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["Human Tafazzin (TAZ) Gene Variants Database. Submitted by laboratories, by families, published, found in exome databases and in ClinVar",{"$nulls":11},"2019-August-23"]
[null,"Reference sequences:     NCBI Reference Sequence  NM_000116.3     and     Ensembl ENST00000299328  TAZ-001 "]
[null,null,"protein NP_000107;  UniProtKB/Swiss-Prot: Q16635.1"]
[null,"** mRNA:  from beginning of transcript as in  NM_000116.4 of 15-MAR-2015 in GenBank Refseq"]
[]
["These splice variants listed on some reports are NOT the reference sequence - they lack some exons:  NM_181311.3 ∆5 (skips exon 5);   NM_181312.3 ∆7 (skips exon 7);   NM_181313.3  ∆5∆7 (skips exons 5 & 7)"]
[]
["TABLE 1 contains PATHOGENIC and LIKELY PATHOGENIC VARIANTS.   Repeat entries represent unrelated families."]
["TABLES 2 and 3 contain VUS, BENIGN and INTRONIC VARIANTS.  Repeated findings are combined."]
[]
["Nomenclature/numbering follow Human Genome Variation Society HGVS recommendations  [http://www.hgvs.org/mutnomen/] :"]
["c.22_23dupA means:  \"c.\" = coding sequence;  duplicated A is between (old) nucleotides 22 and 23"]
["p.Ser8Lysfs*22 means:  \"p.\" = protein;  frameshift starting in Ser8 which is changed to Lys, and with a Termination * 22 codons counting from the 1st changed amino acid."]
["r. = mRNA         r.spl = mRNA splicing         r. Ex2del? = predict Exon 2 skipped          r.Ex10del = Exon 10 skipped in mRNA (experimental support)"]
[" CL = tetralinoleoylcardiolipin / MLCL = monolysocardiolipin "]
[]
["ClinVar  ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence.   http://www.ncbi.nlm.nih.gov/clinvar/  "]
["EXAC  Exome Aggregation Consortium.  The data set provided on this website spans 60706 unrelated individuals sequenced as part of various disease-specific and population genetic studies.  http://exac.broadinstitute.org"]
["Exome Server:  The goal of the NHLBI GO Exome Sequencing Project (ESP) is to discover novel genes and mechanisms contributing to heart, lung and blood disorders.  http://evs.gs.washington.edu/EVS/"]
["dbSNP  Single Nucleotide Polymorphism database (dbSNP) is a public-domain archive for a broad collection of simple genetic polymorphisms.   http://www.ncbi.nlm.nih.gov/SNP/"]
["MAF :  minor allele frequency"]
["TGP  1000 Genomes Project  A Deep Catalog of Human Genetic Variation.  http://www.1000genomes.org"]
["SIFT prediction is based on the degree of conservation of amino acid residues in sequence alignments derived from closely related sequences.  http://sift.jcvi.org"]
["PolyPhen-2 (Polymorphism Phenotyping v2) is a tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward"]
[null," physical and comparative considerations.  http://genetics.bwh.harvard.edu/pph2/"]
["Conservation:  from tafazzin alignments.  Vertebrates (mammals, birds, reptiles, amphibians, fish); invertebrates (arthropods, non arthropods).  Source:  ILG"]
[]
["Location  Genome release  37 numbering","Genome release  38 numbering","SNP #","Coding region changes.  Numbering  from AUG","Product prediction","Fam #","Reference","Effect on human cardiolipin, including ratio","Yeast TAZ model:    CL, MLCL &  mutation classification                (c) Refs. 49, 61, 88","Human acyl transferase motif","Software predictions: SIFT (<0.05 deleterious) PolyPhen2 (>0.85 deleterious).       Experimental info","Comments","Additional variants in other genes","Link","Link","Link","Link","Link"]
[]
[]
["Exon 1"]
["X:153640189",154411852,null,"c.9_10dupG","p.His4Alafs*130","1-1","Ref. 1 #1; Ref. 80;  HGMD CI994454; Ref. 113","MLCL5/CL6 ",null,null,"null","[a] de novo   from mother",null,"Ref. 1 #1","Ref. 80","Ref.113"]
["X:153640219_241","154411882_904",null,"c.39_60del22","p.Pro14Alafs*19 [+ mtDNA variant]","1-11","Ref. 95 Pt. 1","MLCL5/CL6",null,null,"null","[a]  familial","Mitochondrial: m.1555A>G in 12S rRNA, homoplasmic. \"Deafness assoc\" but is not deaf. No aminoglycoside ab","Ref. 95#1"]
["X:153640231",154411894,null,"c.51G>A       TGG > TGA","p.Trp17*","1-2","Ref. 5; Ref. 80;  HGMD M115020;  ","MLCL5/CL6 ",null,null,"null","[a]  familial",null,"Ref. 5","Ref. 80"]
["X:153640231",154411894,null,"c.51G>A       TGG > TGA","p.Trp17*","1-3","Ref. 14;  HGMD M115020",null,null,null,"null","[a]  familial",null,"Ref. 14"]
["X:153640231",154411894,null,"c.51G>T       TGG>TGC","p.Trp17Cys","1-12","Ref. 83",{"$nulls":4},"[a] germline",null,"Ref.83"]
["X:153640234",154411896,null,"c.53_54delCC","p.Leu19Glyfs*114","1-4","Ref. 3 #1; Ref. 17; Ref. 21 #11; Ref. 74; HGMD CD972175","MLCL5/CL6",null,null,"Null.  Confirmed in mRNA ","[a]     ",null,"Ref. 3 #1","Ref. 17","Ref. 21 #11","Ref.74"]
["X:153640262_64",54411925,null,"c.82_84del GTG","p.Val28del","1-6","Ref. 5; Ref. 74;   HGMD CD115047","MLCL5/CL6",null,null,null,"[a, b] de novo fr mother. ",null,"Ref. 5","Ref.74"]
["X:153640263",54411926,null,"c.83T>A        GTG > GAG","p.Val28Glu","1-10","Ref. 75; Ref. 82",null,null,null,"SIFT 0; PPH 0.99","[a, b] familial mosaicism",null,"Ref. 75","Ref. 82"]
["X:153640266",154411929,null,"c.86G>A       GGC > GAC","p.Gly29Asp","1-9","Ref. 68 Pt.1",null,null,null,"SIFT 0; PPH 0.999","[a, b] familial",null,"Ref. 68"]
[]
[]
["Intron 1"]
["X:153640263",154411953,null,"c.109+1G>C    GT > CT","r.[109+1_+54ins]; p.Lys37Ser_Tyr38ins18","1-a","Ref. 45, #III-1, III-2, III-3; Ref. 52",{"$nulls":4},"[a] de novo;  maternal gonadal mosaicism",null,"Ref. 45"]
["X:153640263",154411953,null,"c.109+1G>C    GT > CT","r.[109+1_+54ins]; p.Lys37Ser_Tyr38ins18","1-i","Ref. 101; Ref 107 (TAZ 2)",{"$nulls":4},"[a] LVNC, systolic dysfunction;  deceased; family history ",null,"Ref.101","Ref.107"]
["X:153640267",154411957,null,"c.109+5G>A  GTGAG>GTGAA","r.[109+1_+54ins]; p.Lys37Ser_Tyr38ins18","1-b","Ref. 3 #2; Ref. 17; Ref. 21 #5; Ref. 115; HGMD CS971712","CL 6 ",null,null,"mRNA tested: major product 18 addnl codons;   + minor prod exon1 frameshift.","[a] de novo. ",null,"Ref. 3 #2","Ref. 17","Ref. 21 #5","Ref.115"]
["X:153640267",154411957,null,"c.109+5G>C  GTGAG>GTGAC","r.[109+1_+54ins]; p.Lys37Ser_Tyr38ins18","1-c","Ref. 3 #3; Ref. 21 #8; Ref. 27 #2; Ref. 83 ","CL 6 ",null,null,"same as above ","[a]  Familial.  ClinVar Nov 1997 pathogenic  Allele ID 26145",null,"Ref. 3 #3","Ref. 21 #8","Ref. 27 #2","Ref.83"]
["X:153640268",154411958,null,"c.109+6T>C","r.spl","1-g","Ref. 68  Pt.2",null,null,null,"mRNA sequenced -- mis-splicing confirmed","[a] familial",null,"Ref. 68"]
["X:153640268",154411958,null,"c.109+6T>G","r.spl","1-j","Ref. 103, pt 2; Ref. 107 (TAZ 5); Ref. 113","MLCL5/CL6",null,null,"Mis-splicing: major product in frame, 18 intron 1 codons;  minor product lacks 28 exon 1 bp","[a] family history",null,"Ref.103","Ref.107","Ref.113"]
["X:153640422",154412084,null,"c.110-2A>G      AG > GG","r.spl   Ex2del","1-d","Ref. 3 #4; Ref. 4; Ref. 83; Ref. 115","MLCL/CL = 14.32 or 23.84 or 36.51",null,null,"mRNA: Major prod del. exon 2 remains in frame; minor prod alt splice -> f-shift ","[a]  familial.  ClinVar Mar 2001. Pathogenic. Allele ID 26148",null,"Ref. 3 #4","Ref. 4","Ref. 83","Ref.115"]
["X:153640422",154412084,null,"c.110-2A>G      AG > GG","r.spl   Ex2del","1-h","Ref. 4; Ref. 83",{"$nulls":4},"[a] ClinVar Mar 2001. Pathogenic. Allele ID 26148",null,"Ref. 4","Ref. 83"]
["X:153640422",154412084,null,"c.110-2A>G      AG > GG","r.spl   Ex2del?","1-e","Ref. 6 #BSD;  Ref. 83 ",{"$nulls":4},"[a] familial.  ClinVar Mar 2001. Pathogenic. Allele ID 26148",null,"Ref. 6 #BSD","Ref.83"]
["X:153640423",154412085,null,"c.110-1G>C      AG > AC","r.spl   Ex2del?","1-f","Ref. 7 #2; Ref. 22 #5;  ","MLCL5/CL6",null,null,null,"[a]",null,"Ref. 7 #2","Ref. 22 #5"]
[]
[]
["Exon 2"]
["X:153640431",154412094,null,"c.118A>G      AAC -> GAC","p.Asn40Asp","2-1","Ref. 5; Ref. 79; Ref. 80;  HGMD CM115021","MLCL elev,              CL normal in fresh blood","y.Asn48Asp MLCL normal; 37°C expr30%",null,"SIFT 0.01;  PPH 0.27;  no significant splicing effect predicted","[b] familial",null,"Ref. 5","Ref. 79","Ref. 80"]
["X:153640437",154412100,null,"c.124delC    CTGA >TGA","p.Leu42*","2-2","Ref. 4; Ref. 21 #13; Ref. 74; Ref. 115; HGMD CD013982","MLCL/CL =  15.25",null,null,"null","[a] familial",null,"Ref. 4","Ref. 21 #13","Ref.74","Ref.115"]
["X:153640437",154412100,null,"c.124delC    CTGA >TGA","p.Leu42*","2-3","Ref. 6 #BSH;  HGMD CD013982","CL 6 ",null,null,"null","[a] familial",null,"Ref. 6 #BSH"]
["X:153640440",154412103,null,"c.127A>C     ACC > CCC","p.Thr43Pro","2-4","Ref. 41;  HGMD CM092126",null,null,null,"SIFT 0.25; PPH 0.898","[b]",null,"Ref. 41"]
["X:153640447_9","154412110_12",null,"c.134_136delinsCC","p.His45ProfsX38","2-35","Ref. 97, BTHS 5",null,null,null,"null","[a]   familial",null,"Ref. 97"]
["X:153640453_66","154412116_128",null,"c.140_152del13  [GGGAGGTGCTGTA]del","p.Arg47Thrfs*32","2-5","Ref. 2#BM; Ref. 17; Ref. 21#7; Ref. 23#3; Ref. 74;  HGMD CD972176","CL 6 ",null,null,"Null - confirmed in mRNA","[a]  de novo fr grandfather",null,"Ref. 2 #BM","Ref. 17","Ref. 21 #7","Ref. 23 #3","Ref.74"]
["X:153640456",154412119,null,"c.143delGG","p.Glu48Aspfs85*","2-28","Ref. 70 fam 2","MLCL5/CL6",null,null,"null","[a] germline",null,"Ref. 70"]
["X:153640458",154412121,null,"c.145delG","p.Val49Cysfs34*","2-43","Ref. 83",null,null,null,"null","[a] ClinVar Allele ID 510930;  Jan 22, 2016.  Germline",null,"Ref.83"]
["X:153640462",154412125,null,"c.149T>C      CTG > CCG","p.Leu50Pro","2-6","Ref. 15;   HGMD CM115023",null,null,null,"SIFT 0; PPH 0.999","[a, b]",null,"Ref. 15"]
["X:153640462",154412125,null,"c.149T>C      CTG > CCG","p.Leu50Pro","2-7","Ref. 4;   HGMD CM115023",null,null,null,"SIFT 0; PPH 0.999","[a, b]",null,"Ref. 4"]
["X:153640462",154412125,null,"c.149T>C      CTG > CCG","p.Leu50Pro","2-8","Ref. 38  M.09.00436; HGMD CM115023","MLCL5/CL6",null,null,"SIFT 0; PPH 0.999","[a, b]",null,"Ref. 38"]
["X:153640466",154412129,"rs104894941","c.153C>G      TAC > TAG","p.Tyr51*","2-9","Ref. 40; Ref. 2 #V22; Ref. 7 #5; Ref. 22 #1; Ref. 83; Ref. 115  ","MLCL/CL = 20",null,null,"null","[a] familial.  ClinVar May 2004. Pathogenic. Allele ID 26140",null,"Ref. 2 #V22","Ref. 7 #5","Ref. 22 #1","Ref. 40","Ref. 83","Ref.115"]
["X:153640466",154412129,"rs104894941","c.153C>G      TAC > TAG","p.Tyr51*","2-10","Ref. 4; Ref. 35; Ref. 83  ",null,null,null,"null","[a] Familial. Same as above",null,"Ref. 4","Ref. 35","Ref. 83"]
["X:153640467 ",154412130,"rs794729166","c.154G > T","p.Glu52*","2-41","Ref. 83   ",null,null,null,"null","[a]  ClinVar May 2013. Pathogenic.  Allele ID 198552  germline",null,"Ref. 83"]
["X:153640469_70",154412133,null,"c.157dupC    CTC > CCTC","p.Leu53Profs*81(in exon 5 of FL)","2-11","Ref. 18; Ref. 107 (sporadic 1);  HGMD CI062289",null,null,null,"null","[a] de novo",null,"Ref. 18","Ref.107"]
["X:153640470_74","154412134_38",null,"c.158_162del TCATC","p.Leu53Argfs*79 (in exon 5 of FL)","2-31","Ref. 80  Case #8","MLCL5/CL6",null,null," fs*118 in delta 5","[a] familial",null,"Ref.80"]
["X:153640474",154412137,null,"c.161T>A      ATC > AAC","p.Ile54Asn","2-12","Ref. 15; Ref. 115;  HGMD CM115037  Moved to Pathogenic due to MLCL/CL confirming test","MLCL/CL = 18.37",null,null,"SIFT 0; PPH 0.998","[b] familial",null,"Ref. 15","Ref.115"]
["X:153640476",154412139,null,"c.163G>T    GAG > TAG","p.Glu55*","2-13","Ref. 4; HGMD CM115024",null,null,null,"null","[a]",null,"Ref. 4"]
["X:153640477_491","154412140_154",null,"c.164_178del15","p.Glu55Ala (delKRGP)","2-45","Ref. 20","MLCL/CL = 8.21",null,null,"in frame deletion","[a] mother carrier",null,"Ref.20"]
["X:153640483",154412146,null,"c.170G>T     CGA > CTA","p.Arg57Leu","2-14","Ref. 7 #1; Ref. 79; Ref. 88","MLCL elev,              CL normal, in fresh blood","y.Lys65Leu;    37°C expr30%; protein unstable;  CL/MLCL",null,"SIFT 0; PPH 0.997","[a, b] familial",null,"Ref. 7 #1","Ref. 79","Ref. 88"]
["X:153640483",154412146,null,"c.170G>T     CGA > CTA","p.Arg57Leu","2-15","Ref. 7 #7","CL 6 ","same as above",null,"SIFT 0; PPH 0.997","[a, b]",null,"Ref. 7 #7"]
["X:153640484",154412147,null,"c.171delA","p.Gly58Alafs*25","2-16","Ref. 3 #5; Ref. 17; Ref. 21 #15; Ref. 27 #3; Ref. 74; Ref. 115;  HGMD CD972177","MLCL/CL = 27.41",null,null,"Confirmed in mRNA","[a] de novo fr grandfather. ",null,"Ref. 3 #5","Ref. 17","Ref. 21 #15","Ref. 27 #3","Ref.74","Ref.115"]
["X:153640498",154412161,null,"c.185C>T     CCC > CTC","c.Pro62Leu","2-17","Ref. 14;   HGMD CD972177",null,null,null,"SIFT 0; PPH 0.999","[b] mammals conserved; other vert 20/27",null,"Ref. 14"]
["X:153640520",154412183,null,"c.207C>G     CAC > CAG","p.His69Gln","2-18","Ref. 2 #3; Ref. 47; Ref. 80;  HGMD CM970423; Ref. 88; Ref. 111; Ref. 115","MLCL5/CL6","y.His77Gln  MLCL; catalytically null",1,"SIFT 0; PPH 0.996","[a, b] familial",null,"Ref. 2 #3","Ref. 47","Ref. 88","Ref. 80","Ref.111","Ref.115"]
["X:153640520",154412183,null,"c.207C>G     CAC > CAG","p.His69Gln","2-19","Ref. 20; HGMD CM970423; Ref. 111",null,"same as above",1,"SIFT 0; PPH 0.996","[a, b] familial",null,"Ref. 20","Ref.111"]
["X:153640521",154412184,"rs397515738","c.208C>T      CAG > TAG","p.Gln70*","2-33","Ref. 83",null,null,1,"null","[a] ClinVar May 2015  Allele ID 51424 Germline  Likely pathogenic.",null,"Ref.83"]
["X:153640521",154412184,"rs397515738","c.208C>T      CAG >TAG","p.Gln70* [+ TTN likely pathogenic variant]","2-20","Ref. 37, 2012-a;  Ref. 83",null,null,1,"null","[a]  ClinVar May 2013. Likely pathogenic. Allele ID 51424  Germline","TTN: NM_133378 c.3034C>T, p.Arg1012X. Likely pathogenic. ClinVar  May 2015 Allele ID 56064   rs397517547","Ref.37","Ref.83"]
["X:153640524",154412187,null,"c.211T>C      TCC > CCC","p.Ser71Pro","2-21","Ref. 4;   HGMD CM115025",null,"y.Ser79Pro  MLCL; catalytically null",1,"SIFT 0;  PPH 0.996","[b]",null,"Ref. 4"]
["X:153640524",154412187,null,"c.211T>C      TCC > CCC","p.Ser71Pro","2-22","Ref. 14;  HGMD CM115025",null,"same as above",1,"SIFT 0;  PPH 0.996","[b]",null,"Ref. 14"]
["X:153640529",154412192,null,"c.216C>A      TGC >TGA","p.Cys72*","2-30","Ref. 30","MLCL/CL = 12.98",null,1,null,"[a] germline",null,"Ref. 30"]
["X:153640535",154412198,null,"c.222C>A      GAC > GAA","p.Asp74Glu","2-32","Ref. 4",null,null,1,"SIFT 0; PPH 1","[a, b]",null,"Ref. 4"]
["X:153640535",154412198,null,"c.222C>G     GAC > GAG","p.Asp74Glu","2-27","Ref. 20",null,null,1,"SIFT 0; PPH 1","[a, b]  familial",null,"Ref. 20"]
["X:153640536",154412199,null,"c.223G>C     GAC > CAC","p.Asp75His","2-23","Ref. 20; Ref. 115","MLCL/CL = 28.04",null,null,"SIFT 0; PPH 1","[a, b] de novo fr mother",null,"Ref. 20","Ref.115"]
["X:153640536",154412199,null,"c.223G>A     GAC > AAC","p.Asp75Asn","2-40","Ref. 20",null,null,null,"SIFT delet; PPH delet","[a, b]  familial",null,"Ref. 20"]
["X: 153640540",154412203,"rs878853654","c.227C>G","p.Pro76Arg","2-34","Ref. 83 ",null,null,null,"SIFT not tolerated","[a] de novo.  ClinVar Feb 10, 2016  Likely pathogenic, Allele ID 243780",null,"Ref. 83"]
["X:153640540",154412203,null,"c.227delC","p.Pro76Leufs*7","2-29","Ref. 71",null,null,null,"null","[a] germline",null,"Ref. 71"]
["X:153640543 ",154412206,"rs794729173","c.230A>G","p.His77Arg","2-42","Ref. 83",null,null,null,"SIFT0.15; PPH 0.994","[a]  ClinVar Aug 2011. Likely pathogenic. Allele ID 198553. ",null,"Ref. 83"]
["X:153640549",154412212,null,"c.236G >A     TGG > TAG","p.Trp79*","2-24","Ref. 4; Ref. 17; Ref. 21 #9; Ref. 74; Ref. 115","MLCL/CL = 22.05",null,null,"Seen in mRNA","[a] de novo fr gr'grandfather. Familial ",null,"Ref. 4","Ref. 17","Ref. 21 #9","Ref.74","Ref.115"]
["X:153640551",154412214,null,"c.238G>A  Ggtacc > Agtacc     [r.238G>A     GGG > AGG]","r.[238+1_+36ins]; p.Gly80Ser_Ile81ins12  [predicted gly 80 arg]","2-25","Ref. 16, Ref. 74, Ref. 115","MLCL/CL =  24.21","y.Ala88Arg  MLCL;  protease degrad; In absence of protease:  MLCL; no CL increase",null,"mRNA: r[238+1_+36ins]; major product 12 additional intron-derived codons","[a] Familial   ",null,"Ref. 16","Ref.74","Ref.115"]
["X:153640551",154412214,null,"c.238G>A  Ggtacc > Agtacc     [r.238G>A     GGG > AGG]","r.[238+1_+36ins]; p.Gly80Ser_Ile81ins12  [predicted gly 80 arg]","2-26","Ref. 38, case A.92863",null,"same as above",null," Predict same effect as entry above","[a]",null,"Ref. 38"]
["X:153640551",154412214,null,"c.238G>A  Ggtacc > Agtacc     [r.238G>A     GGG > AGG]","r.[238+1_+36ins]; p.Gly80Ser_Ile81ins12  [predicted gly 80 arg]","2-36","Ref. 20",null,"same as above",null," Predict same effect as entry above","[a]",null,"Ref. 20"]
["X:153640551",154412214,null,"c.238G>A  Ggtacc > Cgtacc    [r.238G>A     GGG > CGG]","predicted gly80arg or r.[238+1_+36ins], p.Gly80Arg_Ile81ins12  ","2-44","Ref. 109",{"$nulls":4},"[a]",null,"Ref.109"]
[]
["Intron 2  "]
["X:153640550_557","154412216_223",null,"c.238+2_238+9del","r.spl","2-d","Ref. 83",{"$nulls":4},"[a]  germline",null,"Ref.83"]
["X:153640553",154412216,null,"c.238+2T>G   GT > GG","r.[110_238del]; p.Lys37_Gly80del","2-a","Ref. 3 #6; Ref. 17; Ref. 21 #18; Ref. 28 #4; Ref. 74; Ref. 115;  HGMD CI025470; CS971714","MLCL/CL = 22.26",null,null," mRNA tested: major prod ∆ 2; minor product 12 addnl codons in-frame","[a]  familial",null,"Ref. 3 #6","Ref. 17","Ref. 21 #18","Ref. 28 #4","Ref. 74","Ref.115"]
["X:153641543",154413206,null,"c.238-1G>A    AG > AA","r.spl   Ex3del?","2-b","Ref. 2 #K; Ref. 40;  Ref. 83  ","CL 6 ",null,null,null,"[a] ClinVar Apr 1996. Pathogenic.  Allele ID 26139 ",null,"Ref. 2 #K","Ref. 40","Ref.83"]
["X:153641543",154413206,null,"c.239-1G>C    AG > AC","r.spl   Ex3del?","2-c","Ref. 40 #GW; Ref. 2 #GW; Ref. 7 #2; Ref. 22 #5; Ref. 23 #4; Ref. 29; Ref. 83 ","MLCL5/CL6",null,null,null,"[a] Familial.  ClinVar Apr 1996. Pathogenic. Allele ID 26141",null,"Ref. 2 #GW","Ref. 7 #2","Ref. 22 #5","Ref. 23 #4","Ref. 29","Ref.83"]
[]
[]
["Exon 3"]
["X:153641544",154413207,null,"c.239G>A      GGG > GAG","p.Gly80Glu or r.spl","3-1","Ref. 5; Ref. 38 M.09.00546;    HGMD CM115061",null,"y.Ala88Glu  MLCL; complex labile, In absence of protease: CL and MLCL",null,"SIFT 0; PPH 1.","[b]   Familial.   ",null,"Ref. 5","Ref. 16"]
["X:153641544","154413207_8",null,"c.239_240insC","p.Ile81Aspfs*53 (in exon 5 of FL)","3-2","Ref. 22 #2; Ref. 23 #4","CL 6 ",null,null,"fs*74 in delta 5","[a] ",null,"Ref. 22 #2","Ref. 23 #4"]
["X:153641550",154413213,null,"c.245T>C      CTG > CCG","p.Leu82Pro","3-3","Ref. 4; Ref. 17",null,"y.Leu90Pro  MLCL;  functional hypomorphic",null,"SIFT 0; PPH 0.5","[a, b] de novo fr grandmother",null,"Ref. 4","Ref. 17"]
["X:153641558",154413221,null,"c.253insC      CGC > CCG","p.Arg85Profs*54","3-30","Ref. 94","MALE: MLCL5/CL6 FEMALE normal CL/ML/CL",null,null,"null","[a]  familial.  MALE sib full syndrome;  FEMALE mild presentation",null,"Ref. 94"]
["X:153641569",154413232,null,"c.264G>A      TGG > TGA","p.Trp88*","3-27","Ref. 56",null,null,null,"null","[a]  Familial",null,"Ref. 56"]
["X:153641585",154413248,"rs104894942","c.280C>T      CGT > TGT","p.Arg94Cys","3-5","Ref. 3 #7; Ref. 17; Ref. 74;  Ref. 83 ; Ref. 115","MLCL/CL = 27.25","y.Arg102Cys  MLCL; catalytically null",2,"SIFT 0; PPH 0.959","[a, b] de novo fr grandfather.  ClinVar Jan 2014. Pathogenic.  Allele ID 198554",null,"Ref. 3 #7","Ref. 17","Ref. 74","Ref. 83","Ref.115"]
["X:153641585",154413248,"rs104894942","c.280C>T      CGT > TGT","p.Arg94Cys","3-6","Ref. 4; Ref. 83 ",null,"same as above",2,"SIFT 0; PPH 0.959","[a, b]  ClinVar Jan 2014. Pathogenic.  Allele ID 198554",null,"Ref. 4","Ref. 83"]
["X:153641585",154413248,"rs104894942","c.280C>T      CGT > TGT","p.Arg94Cys","3-9","Ref. 5; Ref. 83 ",null,"same as above",2,"SIFT 0; PPH 0.959","[a, b]  familial. ClinVar Jan 2014. Pathogenic.  Allele ID 198554",null,"Ref. 5","Ref. 83"]
["X:153641585",154413248,"rs104894942","c.280C>T      CGT > TGT","p.Arg94Cys","3-12","Ref. 30; Ref. 83 ",null,"same as above",2,"SIFT 0; PPH 0.959","[a, b]  ClinVar Jan 2014. Pathogenic.  Allele ID 198554",null,"Ref. 30","Ref. 83"]
["X:153641585",154413248,"rs104894942","c.280C>T      CGT > TGT","p.Arg94Cys","3-13","Ref. 4; Ref.74;  Ref. 83","MLCL5/CL6","same as above",2,"SIFT 0; PPH 0.959","[a, b] Familial; same as above"," ","Ref. 4","Ref. 74","Ref. 83"]
["X:153641585",154413248,"rs104894942","c.280C>T      CGT > TGT","p.Arg94Cys","3-19","Ref. 58; Ref.83 ",null,"same as above",2,"SIFT 0; PPH 0.959","[a, b]  familial. ClinVar Jan 2014. Pathogenic.  Allele ID 198554",null,"Ref. 58","Ref. 83"]
["X:153641585",154413248,"rs104894942","c.280C>T      CGT > TGT","p.Arg94Cys","3-23","Ref. 68 Pt.3; Ref. 83",null,"same as above",2,"SIFT 0; PPH 0.959","[a, b]  Familial. ClinVar Jan 2014. Pathogenic.  Allele ID 198554",null,"Ref. 68","Ref. 83"]
["X:153641585 ",154413248,"rs104894942","c.280C>T      CGT > TGT","p.Arg94Cys","3-33","Ref. 83 ",null,"same as above",2,"SIFT 0; PPH 0.959","ClinVar Jan 2014. Germline. Pathogenic.  Allele ID 198554. With report",null,"Ref. 83"]
["X:153641585 ",154413248,"rs104894942","c.280C>T      CGT > TGT","p.Arg94Cys","3-31","Ref. 95 Pt 2; Ref. 113","MLCL5/CL6","same as above",2,"SIFT 0; PPH 0.959","[a]de novo fr mother. ClinVar Jan 2014. Pathogenic.  Allele ID 198554",null,"Ref. 95","Ref.113"]
["X:153641585",154413248,null,"c.280C >G     CGT > GGT","p.Arg94Gly","3-7","Ref. 4",null,null,2,"SIFT 0; PPH 0.794","[a, b] de novo fr grandparent",null,"Ref. 4"]
["X:153641585",154413248,null,"c.280C >G     CGT > GGT","p.Arg94Gly","3-8","Ref. 47","MLCL5/CL6",null,2,"SIFT 0; PPH 0.794","[a, b] de novo fr grandparent",null,"Ref. 47"]
["X:153641585 ",154413248,"rs104894942","c.280C>A      CGT > AGT","p.Arg94Ser","3-10","Ref. 9;   Ref. 83 ",null,"y.Arg102Ser  MLCL; catalytically null",2,"SIFT 0; PPH 0.736","[a, b] ClinVar Jan 2002. Pathogenic. Allele ID 26149",null,"Ref. 9","Ref. 83"]
["X:153641585 ",154413248,"rs104894942","c.280C>A      CGT > AGT","p.Arg94Ser","3-25","Ref. 20; Ref. 70 fam 3; Ref. 83 ","MLCL5/CL6","same as above",2,"SIFT 0; PPH 0.736","same as above",null,"Ref. 70","Ref. 20","Ref. 83"]
["X:153641586",154413249,null,"c.281G>A      CGT > CAT","p.Arg94His","3-14","Ref. 4; Ref. 25; HGMD CM062008",null,null,2,"SIFT 0;  PPH 0.945","[a, b]  familial",null,"Ref. 4","Ref. 25"]
["X:153641586",154413249,null,"c.281G>A      CGT > CAT","p.Arg94His","3-15","Ref. 15;   HGMD CM062008",null,null,2,"SIFT 0;  PPH 0.945","[a, b]  familial",null,"Ref. 15"]
["X:153641586",154413249,null,"c.281G>A      CGT > CAT","p.Arg94His","3-16","Ref. 38 (A.91738); HGMD CM062008",null,null,2,"SIFT 0;  PPH 0.945","[a, b]",null,"Ref. 38"]
["X:153641586",154413249,null,"c.281G>A      CGT > CAT","p.Arg94His","3-17","Ref. 49;   HGMD CM062008","MLCL5/CL6",null,2,"SIFT 0;  PPH 0.945","[a, b]",null,"Ref. 49"]
["X:153641586",154413249,null,"c.281G>A      CGT > CAT","p.Arg94His","3-18","Ref. 48;   HGMD CM062008","MLCL5/CL6",null,2,"SIFT 0;  PPH 0.945","[a, b]  de novo from grandparent",null,"Ref. 48"]
["X:153641586",154413249,null,"c.281G>A      CGT > CAT","p.Arg94His","3-24","Ref. 69;  HGMD CM062008",null,null,2,"SIFT 0;  PPH 0.945","[a, b]",null,"Ref. 69"]
["X:153641586",154413249,null,"c.281G>A      CGT > CAT","p.Arg94His","3-26","Ref. 70 fam 4","MLCL5/CL6",null,2,"SIFT 0;  PPH 0.945","[a, b] de novo from mother",null,"Ref. 70"]
["X:153641586",154413249,null,"c.281G>A      CGT > CAT","p.Arg94His","3-28","Ref. 20",null,null,2,"SIFT 0;  PPH 0.945","[a, b]  familial",null,"Ref. 20"]
["X:153641586",154413249,null,"c.281G>A      CGT > CAT","p.Arg94His","3-29","Ref. 87","MLCL5/CL6",null,2,"SIFT 0;  PPH 0.945","[a, b] diagnosed by exome",null,"Ref. 87"]
["X:153641586",154413249,null,"c.281G>A      CGT > CAT","p.Arg94His","3-35","Ref. 83",null,null,2,"SIFT 0;  PPH 0.945","[a, b] ",null,"Ref.83"]
["X:153641586",154413249,null,"c.281G>CT    CGT > CTT","p.Arg94Leu","3-20","Ref. 4; Ref. 115",null,null,2,"SIFT 0;  PPH 0.945","[a, b] ",null,"Ref.4","Ref.115"]
["X:153641586",154413249,null,"c.281G>CT    CGT > CTT","p.Arg94Leu","3-32","Ref. 83  ClinVar 2016 Allele ID 404531",null,null,2,"SIFT 0; PPH 0.591","[a] germline",null,"Ref.83"]
["X:153641586",154413249,null,"c.281G>CT    CGT > CTT","p.Arg94Leu","3-36","Ref. 83",null,null,2,"SIFT 0; PPH 0.591","[a] germline",null,"Ref.83"]
["X:153641586",154413249,null,"c.281G>C     CGT > CCT","p.Arg94Pro","3-34","Ref. 20",null,null,2,"SIFT not tolerated","[a] germline","NEBL  GLY202ARG  VUS heterozy","Ref. 20"]
["X:153641589",154413252,null,"c.284dupG   TGgtg > TGGgtg","p.Thr96Aspfs*37","3-21","Ref. 66","MLCL5/CL6",null,null,"null","[a]",null,"Ref. 66"]
[]
[]
["Intron 3"]
[]
["X:153641590",154413253,null,"c.284+1G>C","r. spl.","3-a","Ref. 38   M.11.01741","MLCL5/CL6",null,null,null,"[a]",null,"Ref. 38"]
["X:153641592",154413255,null,"c.284+3G>T  ","r.spl   [+ MYH7 VUS]","3-b","Ref. 30   M.11.04631","MLCL5/CL6",null,null,"Missplice confirmed in RNA","[a]  ","MYH7 NM_000257 c.2945T>C, p.Met982Thr  VUS ClinVar  Nov 2016 Allele ID 52111.     rs145532615","Ref. 30"]
["X:153641594",154413257,null,"c.284+5G>A","r.spl","3-d","Ref. 56",{"$nulls":4},"[a] de novo from mother"]
["X:153641699",154413362,null,"c.284+110G>A","r.[284+1_+111]ins;  p.Thr96X","3-c","Ref. 8; Ref. 17; Ref. 83; Ref. 99",null,null,null,"RT-PCR confirmed.  Alternate GC splice signal also used in normals at low frequency (Ref.17)","[a]   ClinVar Nov 2001. Germline. Pathogenic. Allele ID 26146",null,"Ref. 8","Ref. 17","Ref. 83","Ref. 99"]
["X:153641699",154413362,null,"c.284+110G>A","r.[284+1_+111]ins;  p.Thr96*","3-e","Ref. 88;  Ref. 83  ",{"$nulls":4},"[a] de novo in mother.   ClinVar Nov 2001. Pathogenic. Allele ID 26146",null,"Ref. 88","Ref. 83"]
["X:153641818",154413481,null,"c.285-1G>C","r.spl","3-f","Ref. 98",{"$nulls":4},"[a] familial",null,"Ref. 98"]
[]
[]
[]
["Exon 4"]
["X:153641819",154413482,null,"c.285G>A     TGG > TGA","p.Trp95*","4-1","Ref. 4",null,null,null,"null","[a, b] ",null,"Ref. 4"]
["X:153641828",154413491,null,"c.294delT/insAGGGGTCCTAA    ","frameshift     [+SCN5A var.]","4-2","Ref. 15;  Ref. 20",null,null,null,"null","[a]","SCN5A  c.1573A>G; genotype G/G; p.His558Arg  exon 12  autosomal dom.","Ref. 15","Ref. 20"]
["X:153641836",154413499,null,"c.302G>T     GAC > TAC","p.Asp101Tyr","4-3","Ref. 23 #5;   HGMD CM115026","CL 6 ",null,null,"SIFT 0;  PPH 0.64","[a, b]",null,"Ref. 23"]
["X:153641836",154413499,null,"c.302A>T     GAC > GTC","p.Asp101Val","4-4","Ref. 4;   HGMD CM115026",null,"y.Asn109Val  MLCL;  functional hypomorphic",null,"SIFT 0;  PPH 0.64","[a, b]",null,"Ref. 4"]
["X:153641841",154413504,"rs397515740","c.307T>C     TGC > CGC","p.Cys103Arg [+MYH7 path var.]","4-5","Ref. 37,  2012-b;    Ref. 83 ",null,null,null,"SIFT 0; PPH 0.877","[a, b] Familial.  ClinVar Jun 2012. Likely pathogenic.  Allele ID 51426","MYH7 NM_000257 c.5588G>A Arg1863Gln Likely path ClinVar  Jun 2015, Allele ID 52246,  rs45520836","Ref. 37","Ref. 83"]
["X:153641844",154413507," rs397515741","c.310T>G     TTC  >GTC","p.Phe104Val","4-6","Ref. 4;  HGMD CM115027",null,"y.Phe112Val  MLCL; catalytically null",null,"SIFT 0;  PPH 0.82","[a, b] de novo fr mother",null,"Ref. 4"]
["X:153641844",154413507,null,"c.310T>C     TTC > CTC","p.Phe104Leu","4-7","Ref. 37     2011-a; Ref.83 ",null,null,null,"SIFT 0.04; PPH 0.6","[a, b]  ClinVar Mar 2012. Germline. Pathogenic. Allele ID 51427",null,"Ref. 37","Ref. 83"]
["X:153641861_67","154413524_29",null,"c.327_332delCTCCCA","p.Ser110_His111del","4-8","Ref. 4",{"$nulls":4},"[a, b] Familial.  Ser110 invariant",null,"Ref. 4"]
["X:153641862",154413525,"rs397515739 ","c.328T>C     TCC > CCC","p.Ser110Pro","4-9","Ref. 4; Ref. 83; Ref. 114 ",null,"y.Ala118Pro  MLCL; catalytically null",null,"SIFT 0,05; PPH 0.034","[a, b] de novo fr mother.  ClinVar Jan 2012. Likely pathogenic.  Allele ID 51425",null,"Ref. 4","Ref. 83","Ref.114"]
["X:153641862",154413525,"rs397515739 ","c.328T>C     TCC > CCC","p.Ser110Pro","4-10","Ref.37,  ( 2012-c);   Ref.83 ",null,"same as above",null,"SIFT 0,05; PPH 0.034","[a, b] ClinVar Jan 2012. Germline. Likely pathogenic.  Allele ID 51425",null,"Ref. 37","Ref. 83"]
["X:153641871_73",154413534,null,"c.337_339delTTC","p.Phe113del","4-12","Ref. 14",{"$nulls":4},"[a]",null,"Ref. 14"]
["X:153641871_73",154413534,null,"c.337_339delTTC","p.Phe113del","4-13","Ref. 30    B1208022","MLCL5/CL6",null,null,null,"[a]",null,"Ref. 30"]
["X:153641880",154413543,null,"c.346G>C     GGC > CGC","p.Gly116Arg","4-14","Ref. 38  M.09.01949; Ref. 115;    HGMD CM115029","MLCL5/CL6",null,null,"SIFT 0; PPH 0.99","[a, b] ",null,"Ref. 38",null,"Ref.115"]
["X:153641881",154413544,"rs727504327","c.347G>A      GGC > GAC","p.Gly116Asp","4-15","Ref. 4; Ref. 83 ",null,"y.Gly124Asp  MLCL; catalytically null ",null,"SIFT 0.01; PPH 0.979","[a, b]  Familial.  ClinVar Aug 2012. Likely pathogenic.  Allele ID 178191. ",null,"Ref. 4","Ref. 83"]
["X:153641881",154413544,"rs727504327","c.347G>A      GGC > GAC","p.Gly116Asp","4-16","Ref. 37,  2008-a; Ref. 83 ",null,"same as above",null,"SIFT 0.01; PPH 0.979","[a, b] ClinVar Aug 2012. Germline. Likely pathogenic.  Allele ID 178191 ",null,"Ref. 37","Ref. 83"]
["X:153641882",154413545,null,"c.348delC      GG(C)","p.Lys117>SerfsX22","4-33","Ref. 110",null,null,null,"null","[a] germline",null,"Ref.110"]
["X:153641883",154413546,null,"c.349A>G      AAG > GAG","p.Lys117Glu","4-17","Ref. 4;   HGMD CM11503",null,"y.Gln125Glu  MLCL; complex labile",null,"SIFT 0.07;  PPH 0.87","[a, b] de novo fr mother",null,"Ref. 4"]
["X:153641886",154413549," rs104894937","c.352T>C      TGT > CGT","p.Cys118Arg","4-18","Ref. 6 #BSG; Ref. 21 #1; Ref. 83 ","CL 6 ",null,null,"SIFT 0; PPH 0.998; ","[a, b]   ClinVar Mar 2001. Germline. Pathogenic. Allele ID 26147",null,"Ref. 6 #BSG","Ref. 21 #1","Ref. 83"]
["X:153641886",154413549," rs104894937","c.352T>C      TGT > CGT","p.Cys118Arg","4-19","Ref. 4;  ; Ref. 83  ",null,null,null,"SIFT 0; PPH 0.998; ","[a, b] Familial.  Same as above",null,"Ref. 4","Ref. 83"]
["X:153641890",154413553,null,"c.356T>G      GTG > GGG","p.Val119Gly","4-29","Ref. 70 fam 5","MLCL5/CL6",null,null,"SIFT 0;  PPH 0.96","[a] Familial",null,"Ref. 70"]
["X:153641892",154413555,null,"c.358C>A      CCT > ACT","p.Pro120Thr","4-20","Ref. 30   M.11.02955","MLCL5/CL6",null,null,"SIFT 0;  PPH 0.999","[a]",null,"Ref. 30"]
["X:153641901",154413564,null,"c.367C>T      CGA > TGA","p.Arg123*","4-21","Ref. 4;    HGMD CM067040",null,null,null,"null","[a]  familial",null,"Ref. 4"]
["X:153641901",154413564,null,"c.367C>T      CGA > TGA","p.Arg123*","4-22","Ref. 4;.Ref. 74; HGMD CM067040","MLCL5/CL6",null,null,"null","[a]  familial",null,"Ref. 4","Ref. 74"]
["X:153641901",154413564,null,"c.367C>T      CGA > TGA","p.Arg123*","4-23","Ref. 15;  HGMD CM067040",null,null,null,"null","[a]",null,"Ref. 15"]
["X:153641901",154413564,null,"c.367C>T      CGA > TGA","p.Arg123*","4-24","Ref. 29;  HGMD CM067040","MLCL5/CL6",null,null,"null","[a]",null,"Ref. 29"]
["X:153641901",154413564,null,"c.367C>T      CGA > TGA","p.Arg123*","4-28","Ref. 66;  HGMD CM067040",null,null,null,"null","[a]  familial",null,"Ref. 66"]
["X:153641901",154413564,null,"c.367C>T      CGA > TGA","p.Arg123*","4-30","Ref. 97, BTHS 3  ",null,null,null,"null","[a] familial",null,"Ref. 97"]
["X:153641901",154413564,null,"c.367C>T      CGA > TGA","p.Arg123*","4-31","Ref. 103 pt 3","MLCL5/CL6",null,null,"null","[a] familial",null,"Ref.103"]
[null,null,null,"c.367C>T      CGA > TGA","p.Arg123*","4-34","Ref. 83",null,null,null,"null","[a] germline",null,"Ref.83"]
["X:153641902_909","154413565_72",null,"c.368_368+5delinsCACAGGCCTGTGTCC","skip exon 4 or retention intron4","4-32","Ref. 112","MLCL5/CL6",null,null,"null","[a]","[a] The ins CACAGGCCTGTGTCC is derived from TNF receptor RELT","Ref.112"]
["X:153641904",154413567," rs782404246","c.370G>A      GGA > AGA","p.Gly124Arg","4-25","Ref. 4;    HGMD CM115031",null,null,null,"SIFT 0.05;  PPH 0.38;  SplicePort donor score reduced","[b]",null,"Ref. 4"]
["X:153641904",154413567," rs782404246","c.370G>C      GGA > CGA","p.Gly124Arg","4-26","Ref. 4;    HGMD CM115031",null,null,null,"SIFT 0.05;  PPH 0.38","[a]  familial",null,"Ref. 4"]
["X:153641904",154413567,null,"c.370G>T      GGA > TGA","p.Gly124*","4-27","Ref. 4; Ref. 21 #16","CL 6 ",null,null,"Null + Splicing effect prediction","[a]  familial",null,"Ref. 4","Ref. 21 #16"]
[null,null,null,"c.370G>T      GGA > TGA","p.Gly124*","4-35","Ref. 83",{"$nulls":4},"[a]",null,"Ref.83"]
[]
[]
[]
["Intron 4"]
["X:153642436",154414099,null,"c.371-2A>G   ","r.spl","4a","Ref. 55;   LOVD TAZ_00059",{"$nulls":4},"[a]",null,"Ref. 55"]
[]
[]
["Exon 5","See VUS tab",null,"c.371 - c.460","p.124 - p.153"]
[]
["intron 5"]
["X: 153642528","X:154414191","rs878853655","c.460+1G>A","r.spl","5-b","Ref. 83",{"$nulls":4},"[a] ClinVar Nov 2015. Allele ID 243781. Germline. Likely pathogenic",null,"Ref. 83"]
["X:153647880","X:154419541","rs876661038","c.461-2A>G","r.spl      (splice before exon 6)","5-a","Ref. 83",{"$nulls":4},"[a] ClinVar May 2015. Germline.  Allele ID 232141  Pathogenic",null,"Ref. 83"]
[]
[]
["Exon 6"]
["X:153647888",154419558,null,"c.476A>C     CAG > CCG","p.Gln159Pro","6-22","Ref. 101; Ref. 107 (TAZ6)",null,null,null,"SIFT 0.001; PPH 0.993","[a] familial, systolic dysfunction",null,"Ref.101","Ref.107"]
["X:153647890",154419560,null,"c.478A>T      AAG > TAG","p.Lys160*","6-1","Ref. 5;   HGMD CM115022",null,null,null,"null","[a]  familial",null,"Ref. 5"]
["X:153647890",154419560,null,"c.478A>T      AAG > TAG","p.Lys160*","6-11","Ref. 70 fam 6","MLCL5/CL6",null,null,"null","[a] mother not tested",null,"Ref. 70"]
["X:153647900",154419561,null,"c.478del A     AAG > AGG","p.Lys160Argfs*24","6-2","Ref. 14",null,null,null,"null","[a]",null,"Ref. 14"]
["X:153647901",154419562,null,"c.480delG","p.Met162Trpfs*60","6-21","Ref. 83",null,null,null,"null","[a] germline; ClinVar 2016 Allele ID 433956",null,"Ref.83"]
["X:153647903",154419563,null,"c.481G>A     GGG > AGG","p.Gly161Arg","6-3","Ref. 4; Ref. 115;  HGMD CM115033","MLCL/CL = 17.04","y.Ser140Arg  MLCL complex labile. In absence of protease:  MLCL; no CL increase",null,"SIFT 0; PPH 0.992","[b]",null,"Ref. 4","Ref.115"]
["X:153647903",153647904,null,"c.481_482ins20","p.Gly161Glufs*30","6-15","Ref. 56; .96a; 96b",null,null,null,"null","[a]  familial",null,"Ref. 56","Ref. 96a","Ref. 96b"]
["X:153647908",154419569,null,"c.487dupG","p.Asp163GlyfsX40","6-23","Ref. 83",null,null,null,"null","[a] Germline. ClinVar Allele ID 495808.  Dec 2017  w report",null,"Ref.83"]
["X:153647919",154419579,null,"c.497T>A     TTG > TAG","p.Leu166*","6-4","Ref. 4;   HGMD CM115034",null,null,null,"null","[a]  familial",null,"Ref. 4"]
["X:153647926",154419587,null,"c.505C>T","p.Leu169Phe","6-18","Ref. 101;  Ref. 107 (TAZ 4)",null,null,null,"SIFT 0.01; PPH 0.886","[a] LVNC; familial",null,"Ref.101","Ref.107"]
["X:153647926",154419587,null,"c.505C>T","p.Leu169Phe","6-20","ExAC T=0.0000082"]
["X:153647927",154419588,null,"c.506T>A     CTC > CAC","p.Leu169His","6-5","Ref. 14;   HGMD CM115040",null,"y.Leu148His  MLCL; complex labile.When protease absent: CL and MLCL. Increased MLCL to CL transacylase activity",null,"SIFT  0.01;  PPH 1","[b]",null,"Ref. 14"]
["X:153647928",154419589,null,"c.507C>T     CTC > CTT","p.Leu169=","6-6","Ref. 51",{"$nulls":4},"Minigene assay indicates mis-splicing",null,"Ref. 51"]
["X:153647938",154419599,null,"c.517delG    GAC > ACT","Asp173Thrfs*11","6-7","Ref. 4; Ref. 17; Ref. 21 #4; Ref. 74","MLCL5/CL6",null,null,"Null;  mRNA sequenced ","[a]  Germline.  De novo from grandparent",null,"Ref. 4","Ref. 17","Ref. 21 #4","Ref. 74"]
["X:153647941",154419602,null,"c.520T>G     TGG > GGG","p.Trp174Gly $ see note at Ref 59","6-10","Ref. 59 $",null,null,null,"SIFT 0; PPH 0.998","[b]  familial",null,"Ref. 59"]
["X:153647947 ",154419608,"rs794729174 ","c.526C>T     CAT > TAT","p.His176Tyr","6-17","Ref. 83; Ref. 115 ","MLCL/CL = 17.26",null,3,"SIFT: 0;  PPH 0.996;  Only His tolerated","[a]  ClinVar Feb 2012. Pathogenic. Germline. Allele ID 198555 ",null,"Ref. 83","Ref.115"]
["X:153647947",154419608,null,"c.526C>T     CAT > TAT","p.His176Tyr [+ KCNE3 p.Arg99His]","6-19","Ref. 101; Ref. 107 (sporadic 2)",null,null,3,"SIFT 0; PPH 0.999","[a] fetal demise; no family history","KCNE3 p.Arg99His","Ref.101","Ref.107"]
["X:153647948",154419609,null,"c.527A>G    CAT > CGT","p.His176Arg","6-14","Ref. 20",null,null,3,"SIFT 0; PPH 1","[a]"]
["X:153647948",154419609,null,"c.527A>G    CAT > CGT","p.His176Arg","6-16","Ref. 97  BTHS 1 & 2 twins",null,null,3,"SIFT 0; PPH 2","[a] familial",null,"Ref. 97"]
["X:153647951",154419614,null,"c.532T>A      TTC > ATC","p.Phe178Ile","6-8","Ref. 2 #FW;   HGMD CM970425",null,"y.Tyr187Ile  MLCL; catalytically null",3,"SIFT 0; PPH 0.95","[a]  familial",null,"Ref. 2 #FW"]
["X:153647951",154419614,null,"c.532T>C     TTC > CTC","p.Phe178Leu","6-12","Ref. 72",null,null,3,"SIFT 0;  PPH 0.73","[b]",null,"Ref. 72"]
["X:153647957",154419618,null,"c.536delC    (CCA G> CAG)","p.Pro179Glnfs*5","6-9","Ref. 10;    HGMD CD030165",null,null,3,"mRNA tested: product including exon 6 + product skipping exon 6","[a]  familial",null,"Ref. 10"]
[]
[]
[]
["Intron 6"]
["X:153647963",154419624,null,"c.541+1G>T       GT > TT","r.spl   Ex.6del?","6-a","Ref. 4;          HGMD CS115043",{"$nulls":4},"[a] Germline",null,"Ref. 4"]
["X:153647963",154419624,null,"c.541+1G>A       GT > AT","r.spl   Ex.6del?","6-b","Ref. 31 #2;   HGMD CS068232",{"$nulls":4},"[a]  no info in paper",null,"Ref. 31 #2"]
["X: 153648084",154419745,"rs794729167  see row 214","c.541+122G>A  in non-canonical transcript  delta 7 NM_181312.3","Change in transcript NM_000116  is c.581G>A; p.Trp194*",null,"Ref. 83",{"$nulls":4},"[a]  ClinVar May 31, 2012  Var ID 202093"]
["X:153648037_49","154419698_154419710",null,"c.542-7_547 delTCACCAGGGAAAG","r.spl   Ex.6del?","6-c","Ref.14;         HGMD CD115052",null,null,null,"NULL: Deletion straddles intron-exon  junction","[a]  Familial",null,"Ref. 14"]
["X:153648041",154419702,"rs781795144","c.542-3  C>G","r.spl","6-d","Ref. 83",{"$nulls":4},"[a] de novo. ClinVar Allele ID 481484",null,"Ref.83"]
[]
[]
["Exon 7"]
["X:153648050",154419711,null,"c.548T>G      GTG > GGG","p.Val183Gly","7-1","Ref. 1 #2;   HGMD CM994450",null,"y.Val192Gly  MLCL; catalytically null",null,"SIFT 0; PPH 0.958","[b]  Familial",null,"Ref. 1 #2"]
["X:153648055",154419716,null,"c.553A>G   new exonic splice donor at codon Met185","r.[541+1_542-1ins; r.553_583del]; p.Lys182Glnfs*4","7-2","Ref. 65","MLCL5/CL6   in lymphoblasts",null,null," mRNA study & sequencing confirm mis-splicing & frameshift","[a]  familial",null,"Ref. 65"]
["X:153648055",154419716,null,"c.553A>G   new exonic splice donor at codon Met185","r.[541+1_542-1ins; r.553_583del]; p.Lys182Glnfs*4","7-12","Ref. 30;  Ref. 79","MLCL elev,              CL normal, fresh blood. Ratio 0.103",null,null,"\"","[a]  Familial",null,"Ref. 30","Ref. 79"]
["X:153648055",154419716,null,"c.553A>G   new exonic splice donor at codon Met185","r.[541+1_542-1ins; r.553_583del]; p.Lys182Glnfs*4","7-13","Ref. 73  incorrectly reported as Met155",null,null,null,"\"","[a, b] No family info in abstract",null,"Ref. 73"]
["X:153648055",154419716,null,"c.553A>G      ATG > GTG     new exonic splice donor","reported as p.Met185Val","7-15","Ref. 101; Ref. 107 (TAZ 3)",null,null,null,"\"","[a] familial",null,"Ref.101","Ref.107"]
["X:153648064",154419725,null,"c.562G>T      GAA > TAA   c.578A>T      AAG > ATG","p.Glu188*                 p.Lys193Met","7-3","Ref. 11;  ExAC 3Afr/8,433; 0 hemiz",null,null,null,"null","[a] familial",null,"Ref. 11"]
["X:153648081_82","154419743_4",null,"c.580_581dupT","p.Trp194Leufs*9","7-4","Ref. 40 #OAT; Ref. 2 #OAT;  ","CL 6 ",null,null,"null","[a]  ClinVar Apr 1996. Familial. Pathogenic.   Allele ID 26142",null,"Ref. 2 #OAT","Ref. 40","Ref. 83"]
["X:153648081_82","154419743_4",null,"c.580_581dupT","p.Trp194Leufs*9","7-5","Ref. 29 #910158","MLCL5/CL6",null,null,"null","[a] no family info",null,"Ref. 29 #910158",null,"Ref. 83"]
["X:153648082",154419744,"rs794729167","c.581G>A","p.Trp194*","7-6","Ref. 30; Ref. 72,  M.11.03013;  Ref. 83 ",null,null,null,"null","[a]  ClinVar May 2012. Pathogenic. Allele ID 198556. No family info",null,"Ref. 30","Ref. 72","Ref. 83"]
["X:153648082",154419744,"rs794729167","c.581G>A","p.Trp194*","7-14","Ref. 83; Ref. 115","MLCL/CL = 34",null,null,"null","[a]  ClinVar May 2012. Germline. Pathogenic. Allele ID 198556",null,"Ref. 83","Ref.115"]
["X:153648084",154419746,null,"c.583G>T","p.Gly195*","7-9","Ref. 60",null,null,null,"null","[a]  familial",null,"Ref. 60"]
[]
[]
[]
["Intron 7"]
["X:153648086",154419747,null,"c.583+1G>T    GT > TT","r.spl","7-e","Ref. 20",{"$nulls":4},"[a]  famiial",null,"Ref. 20"]
["X:153648087",154419748,null,"c.583+2T>C    GT > GC","r.spl    Ex.7del?","7-a","Ref. 4;    HGMD CS115044",{"$nulls":4},"[a]  familial",null,"Ref. 4"]
["X:153648090",154419751,"rs74315448","c.583+5G>A  GTAAGG>GTAAAG","r.spl","7-b","Ref. 30, Case A.91549; Ref. 47","MLCL5/CL6",null,null,null,"[a]  familial",null,"Ref. 30"]
["X:153648090",154419751,"rs74315448","c.583+5G>A  GTAAGG>GTAAAG","r.spl","7-c","Ref. 4; Ref. 115","MLCL/CL = 3.9",null,null,null,"[a]  de novo fr grandparent",null,"Ref. 4","Ref.115"]
["X:153648090",154419751,"rs74315448","c.583+5G>A  GTAAGG>GTAAAG","r.spl  [+KCNE2 VUS]","7-d","Ref. 20",{"$nulls":4},"[a]  Mom not tested","KCNE2 NM_172201 c.170T>C,  Ile57Thr, VUS ClinVar Sept 2016 Allele ID 21093,   rs74315448","Ref. 20"]
["X:153648090",154419751,"rs74315448","c.583+5G>A  GTAAGG>GTAAAG",null,"7-f","Ref. 104",null,null,null,"null","[a] familial",null,"Ref. 104"]
[]
[]
["Exon 8"]
["X:153648371",154420032,null,"c.584G>T    GGA > GTA","p.Gly195Val","8-38","Ref. 68 Pt.4",null,null,null,"SIFT 0; p 0.999.  Normal splicing","[a, b]  de novo fr grandparent.  ",null,"Ref. 68"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg [+ chrom. 2 aberration]","8-1","Ref. 3 #9; Ref. 28 #2; Ref.83",null,null,null,"SIFT 0; PPH 0.972. ","[a, b]  de novo from mother.  ClinVar Oct 2010. Pathogenic. Allele ID 26144 ","46XY,inv(2) (p11q13)","Ref. 3 #9","Ref. 28 #2","Ref. 83"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-2","Ref. 4; Ref. 83 ",null,null,null,"same as above","[a, b] Familial  ClinVar Oct 2010. Pathogenic. Allele ID 26144 ",null,"Ref. 4","Ref. 83"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-3","Ref. 4; Ref. 83 ",null,null,null,"same as above","[a, b] mom status unknown",null,"Ref. 4","Ref. 83"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-4","Ref. 4; Ref. 83 ",null,null,null,"same as above","[a, b]  familial.  ClinVar Oct 2010. Pathogenic. Allele ID 26144 ",null,"Ref. 4","Ref. 83"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-5","Ref. 1 #3; Ref. 47;  Ref. 83 ",null,null,null,"same as above","[a, b]  familial.  same as above",null,"Ref. 1 #3","Ref. 83"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-6","Ref. 1 #4;  Ref. 83 ",null,null,null,"same as above","[a, b]  familial. same as above",null,"Ref. 1 #4","Ref. 83"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-7","Ref. 2 #MF; Ref. 83 ",null,null,null,"same as above","[a, b]  familial. same as above",null,"Ref. 2 #MF","Ref. 83"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-8","Ref.12; 74; Ref. 83 ","MLCL5/CL6",null,null,"same as above","[a, b]  familial. same as above",null,"Ref. 12","Ref. 74","Ref. 83","Ref.115"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-9","Ref. 5; Ref. 83; Ref. 80 ","MLCL5/CL6","16.0; 8.8; n/a",null,"same as above","[a, b]  familial. same as above",null,"Ref. 5","Ref. 83","Ref.80","Ref.115"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-10","Ref.15; 74; Ref. 83 ","MLCL5/CL6",null,null,"same as above","[a, b]  familial. same as above",null,"Ref. 15","Ref. 74","Ref. 83","Ref.115"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-11","Ref. 20; Ref. 83 ",null,null,null,"same as above","[a, b]  familial. same as above",null,"Ref. 20","Ref. 83"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-12","Ref. 31 #1; Ref. 83 ",null,null,null,"same as above","[a, b]  familial. same as above",null,"Ref. 31 #1","Ref. 83"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-13","Ref. 20; 74; Ref. 83 ","MLCL5/CL6",null,null,"same as above","[a, b]  familial. same as above",null,"Ref. 20","Ref. 74","Ref. 83"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-40","Ref. 70 fam 9; Ref. 83 ","MLCL5/CL6",null,null,"same as above","[a, b]  ClinVar Oct 2010. Pathogenic. Allele ID 26144 ",null,"Ref. 70","Ref. 83"]
["X:153648376",154420037,"rs132630277","c.589G>A    GGG > AGG","p.Gly197Arg","8-45","Ref. 101;  Ref. 107 (sporadic 3)",null,null,null,"same as above","[a] no family history",null,"Ref.101","Ref.107"]
["X:153648376",154420037,null,"c.589G>T    GGG > TGG","p.Gly197Trp","8-14","Ref 14",null,null,null,"SIFT 0; PPH 0.999","[a, b]",null,"Ref. 14"]
["X:153648376",154420037,null,"c.589G>T    GGG > TGG","p.Gly197Trp","8-41","Ref. 70 fam 10","MLCL5/CL6",null,null,"SIFT 0; PPH 0.999","[a, b] germline",null,"Ref. 70"]
["X:153648377",154420038,null,"c.590G>T    GGG > GTG","p.Gly197Val","8-15","Ref. 7 #3; Ref. 22 #4;  HGMD CM024251; CM970426","CL 6 ",null,null,"SIFT 0; PPH 0.889","[a, b]",null,"Ref. 7 #3","Ref. 22 #4"]
["X:153648377",154420038,"rs397515746","c.590G>A    GGG > GAG","p.Gly197Glu [+ TAZ p.Lys264Arg]","8-16","Ref. 3 #8; Ref. 27 #5; Ref. 67;  Ref. 83 ",null,null,null,"SIFT 0; PPH 0.97.  ","[a, b]  ClinVar Jul 2012. Likely pathogenic. Allele ID 51434","Also TAZ exon 11: p.Lys264Arg","Ref. 3 #8","Ref. 27 #5","Ref. 83"]
["X:153648377",154420038,"rs397515746","c.590G>A    GGG > GAG","p.Gly197Glu","8-17","Ref. 15;  Ref. 83 ",null,null,null,"same as above","[a, b] same as above",null,"Ref. 15","Ref. 83"]
["X:153648377",154420038,"rs397515746","c.590G>A    GGG > GAG","p.Gly197Glu","8-18","Ref. 37   2012-d; Ref. 83",null,null,null,"same as above","[a, b] Germline",null,"Ref. 37","Ref. 83"]
["X:153648389",154420050,"not in SNP","c.602C>T  in NM_000116     (publ as c.469 C>T, p.Leu157Phe, in NM_181313)","p.Ala201>Val [+SDHA var.; +DTNA var]","8-49","Ref. 105",null,null,null,"SIFT toler; PPH2 likely pathogenic score 0.98","[a] familial","SDHA c.1351_1355delCGCCT, p.Arg451 fs;   DTNA c.1736G>A, p.Ser588Asn","Ref.105"]
["X:153648390_92","154420051_3",null,"c.603_605delTGA","p.Glu202del","8-19","Ref. 30; Ref. 46",{"$nulls":4},"[a]",null,"Ref. 30"]
["X:153648392_95","154420053_6",null,"c.605_608delAGTG","p.Glu202Valfs*15 [+ LDB3 VUS]","8-20","Ref. 33,  case III-10; Ref. 83 ",null,null,null,"null","[a] familial.  ClinVar May 2007. Pathogenic. Allele ID 26150","LDB3  NM_007078 c.1049C>T, p.Thr350Ile, VUS ClinVar Jan 2016  Allele ID 224405;  rs200796750","Ref. 33","Ref. 83"]
["X:153648409 ",154420070,"not in SNP","c.622A>G    ATC > GTC","p.Ile208Val ","8-46","Ref. 100",null,null,4,"SIFT predict tolerated.  Semi-conserved position:  Val frequent in vertebrates other than primates.","[a] familial.  Young adult w palpitations.  Mother shown as affected,  deceased",null,"Ref. 100"]
["X:153648413",154420074,null,"c.626T>A     ATC > AAC","p.Ile209Asn","8-21","Ref. 3 #10*; Ref. 21 #12; Ref. 67;  Ref. 115;  HGMD CM970428","MLCL/CL = 18.85","y.Val223Asn  MLCL; aggreg prone, protease degrad",4,"SIFT 0; PPH 1.00","[a, b]  familial",null,"Ref. 3 #10","Ref. 21 #12","Ref.115"]
["X:153648413",154420074,null,"c.626T>A     ATC > AAC","p.Ile209Asn","8-22","Ref. 47",null,"same as above",4,"SIFT 0; PPH 1.00","[a, b] familial",null,"Ref. 47"]
["X:153648416",154420077,null,"c.629T>G    CTG > CGG","p.Leu210Arg","8-23","Ref. 1 #5; Ref.38  Case A.93271;   HGMD CM9944","CL 6 ","y.Val224Arg  MLCL; aggreg prone, protease degrad",4,"SIFT 0;  PPH 1","[a, b] de novo fr mother",null,"Ref. 1","Ref. 38"]
["X:153648421",154420082,null,"c.634delC    CCCC > CCC","p.Leu212Cysfs*6","8-24","Ref. 2 #MH; Ref. 29 #0010379","MLCL5/CL6",null,4,"null","[a, b] Familial. ClinVar 1997 Pathogenic.  Allele ID 26143",null,"Ref. 2 #MH","Ref. 29 #0010379"]
["X:153648422",154420083,null,"c.635T>C    CTG > CCG","p.Leu212Pro","8-25","Ref. 3; Ref. 21;   HGMD M970429","CL 6 ","y.Ile226Pro  MLCL; aggreg prone, protease degrad",4,"SIFT 0.05; PPH 0.993","[a, b]  Familial",null,"Ref. 3","Ref. 21"]
["X:153648426",154420087,null,"c.639G>A","p.Trp213*","8-50","Ref. 83",null,null,null,"null","[a] Germline. ClinVar Allele ID 495811  Feb 19, 2018 w interpretation",null,"Ref.83"]
["X:153648428",154420089,null,"c.641A>G    CAT > CGT","p.His214Arg","8-35","Ref. 66","MLCL/CL =  70",null,null,"SIFT 0.16; PPH. 0.76","[a, b]",null,"Ref. 66"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-26","Ref. 4;    HGMD CM024152",null,"y.Gly230Arg  MLCL; aberrant assembly",null,"SIFT 0.03; PPH 0.999.  Missplicing predicted","[a, b]  Familial",null,"Ref. 4"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-27","Ref. 4",null,"same as above",null,"same as above","[a, b]  ",null,"Ref. 4"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-28","Ref. 4",null,"same as above",null,"same as above","[a, b]  Familial",null,"Ref. 4"]
["X:153648433",154420094,null,"c.646G>A/C GGA>A/CGA","p.Gly216Arg","8-29","Ref. 2 #FT",null,"same as above",null,"same as above","[a, b]  Familial",null,"Ref. 2 #FT"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-30","Ref. 2 #BV; Ref. 7 #6; Ref. 22 #4;  ","CL 6 ","same as above",null,"same as above","[a, b]  Familial",null,"Ref. 2 #BV","Ref. 7 #6","Ref. 22 #4"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-31","Ref. 14",null,"same as above",null,"same as above","[a, b]  ",null,"Ref. 14"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-32","Ref. 15",null,"same as above",null,"same as above","[a, b]  ",null,"Ref. 15"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-33","Ref. 48","MLCL5/CL6","same as above",null,"same as above","[a, b]  de novo from mother",null,"Ref. 48"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-34","Ref. 50;  Ref.107(TAZ7)",null,"same as above",null,"same as above","[a, b]  mother carrier",null,"Ref. 50","Ref.107"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-36","Ref. 63","MLCL5/CL6","same as above",null,"same as above","[a, b] familial",null,"Ref. 63"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-37","Ref. 56",null,"same as above",null,"same as above","[a, b]  ",null,"Ref. 56"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-42","Ref. 70 fam 11","MLCL5/CL6","same as above",null,"same as above","[a, b]  Familial",null,"Ref. 70"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-43","Ref. 76",null,"same as above",null,"same as above","[a, b]  Familial",null,"Ref. 76"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-44","Ref. 83",null,"same as above",null,"same as above","[a, b] ClinVar Apr 4, 2017. Germline.  Allele ID 415753 ",null,"Ref. 83"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-47","Ref.103, pt 1",null,"same as above",null,"same as above","[a, b] germline",null,"Ref.103"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg [+ SCN5A variant]","8-48","Ref. 20",null,"same as above",null,"same as above","[a, b]  ","SCN5A  c.103G>A  Gly35Ser   (VUS)","Ref. 20"]
["X:153648433",154420094,null,"c.646G>A    GGA > AGA","p.Gly216Arg","8-51","Ref.107 (sporadic 4)",null,"same as above",null,"same as above","[a, b]  de novo",null,"Ref.107"]
[]
["Intron 8"]
["X:153648549",154420211,"rs587776741 ","c.647-1G>C      AG > AC","r.[647_699del]; p.Gly215Glufs*104","8-a","Ref. 13; Ref. 18; Ref. 83",null,null,null,"mRNA tested: exon 9 skipped ","[a]  familial.  ClinVar Dec 2002. Pathogenic.  Allele ID 26151",null,"Ref. 13","Ref. 18","Ref. 83","Ref.107"]
[]
[]
["Exon 9"]
["X: 153648551",154420212,null,"c.647G>A","p.Gly216Glu","9-15","Ref. 83",{"$nulls":4},"[a] germline",null,"Ref.83"]
["X:153648551",154420212,"rs727504431","c.647G>T   GGA > GTA","p.Gly216Val","9-8","Ref. 37; Ref. 83 ",null,null,null,"SIFT none tolerated; PPH 0.999. ","[b]  ClinVar Jan 2012. Likely pathogenic. Allele ID 178206  . Germline",null,"Ref. 37","Ref. 83"]
["X:153648557_58","154420219_20",null,"c.654_655dupGAAT","p.Asp219Glufs*1","9-1","Ref. 14; Ref. 87 (note)","MLCL5/CL6",null,null,"null","[a]",null,"Ref. 14","Ref. 87"]
["X:153648561_64","154420223_26",null,"c.658_661dup (dupGTCC)","p.Leu221Argfs*4","9-10","Ref. 70 fam 13","MLCL5/CL6",null,null,"null","[a] de novo from mother",null,"Ref. 70"]
["X:153648582_96","154420243_56",null,"c.678_691del14","p.Tyr227Trpfs*79","9-9","Ref. 66",null,null,null,"null","[a] germline",null,"Ref. 66"]
["X:153648584",154420245,null,"c.680dupA","p.Tyr227*","9-13","Ref. 83",null,null,null,"null","[a] germline. ClinVar allele ID 439513 Moved to Pathogenic due to frameshift",null,"Ref. 83"]
["X:153648588_89","154420249_50",null,"c.684_685insC","p.Phe227_Pro228fs*81","9-12","Ref. 93",null,null,null,"null","[a]  WES mito cohort; 3MGA",null,"Ref. 93"]
["X:153648590_94","154420251_55",null,"c.686_690delCCCGC","p.Pro229Leufs*79","9-11","Ref. 78",null,null,null,"null","[a]  Familial",null,"Ref. 78"]
["X:153648592",154420253,null,"c.688delC  ","p.Arg230Alafs*9","9-3","Ref. 3 #12; Ref. 28 #1;   HGMD CD972179",null,null,null,"null","[a]",null,"Ref. 3 #12","Ref. 28 #1"]
["X:153648598",154420253,null,"c.694G>T     GGA > TGA","p.Gly232*","9-4","Ref. 15;   HGMD CM115038",null,null,null,"null","[a]",null,"Ref. 15"]
["X:153648601",154420262,null,"c.697C>T     CAG > TAG","p.Gln233*","9-5","Ref. 3 #13; Ref. 27 #1; Ref. 106; Ref. 115;  HGMD CM970430","MLCL/CL = 54.06",null,null,"null","[a]  familial",null,"Ref. 3 #13","Ref. 27 #1","Ref.106","Ref.115"]
["X:153648601",154420262,null,"c.697C>T     CAG > TAG","p.Gln233*","9-6","Ref. 15;  HGMD CM970430",null,null,null,"null","[a]  Familial",null,"Ref. 15"]
["X:153648601",154420262,null,"c.697C>T     CAG > TAG","p.Gln233*","9-14","Ref. 83",null,null,null,"null","[a] germline",null,"Ref.83"]
[]
[]
[]
["Intron 9"]
["X:153648604",154420265,null,"c.699+1G>T     GT > TT","r.[647_699del]; p.Gly215Glufs*104","9-a","Ref. 4; Ref. 21 #14; Ref.74; Ref. 115","MLCL/CL =  9.92",null,null,"confirmed mRNA: exon 9 skipped","[a] de novo fr grandfather; familial",null,"Ref. 4","Ref. 21 #14","Ref. 74","Ref.115"]
["X:153648604",154420265,"rs1057518416","c.699+1G>A     GT >AT","r.spl","9-e","Ref. 83",{"$nulls":4},"[a] ClinVar Nov 2016 Allele ID 360548 Pathogenic. Germline",null,"Ref. 83"]
["X:153648995",154420656,null,"c.700-2A>C      AG > CG","r.spl    Ex.10del?","9-b","Ref. 29;    HGMD CM970430","MLCL5/CL6",null,null,null,"[a]",null,"Ref. 29"]
["X:153648996",154420657,"rs397515747","c.700-1G>A      AG > AA","r.spl","9-c","Ref. 37,  2009-a; Ref. 83  ",{"$nulls":4},"[a]  ClinVar Sep 2012. Germline. Allele ID 51435",null,"Ref. 37","Ref. 83"]
["X:153648996",154420657,"rs397515747","c.700-1G>A      AG > AA","r.spl","9-d","Ref. 70 fam 14; Ref. 83 ","MLCL5/CL6",null,null,null,"[a]  Familial;  same as above",null,"Ref. 70","Ref. 83"]
[]
[]
["Exon 10"]
["X:153648999_9000",154420661,null,"c.703dupA","p.Ile235Asnfs*76","10-1","Ref. 4; Ref. 21 #14; Ref. 74; Ref. 115","MLCL/CL = 32.23; 23.58",null,null,"Null.  mRNA sequenced","[a] familial   ",null,"Ref. 3 #14","Ref. 28 #5&6","Ref. 74","Ref.115"]
["X:153649007_8","154420668_9","rs727504394","c.710_711delTG","p.Val237Alafs*73","10-2","Ref. 36; Ref. 83",null,null,5,"null","[a]  ClinVar Jun 2011. Germline. Pathogenic.  Allele ID 178197",null,"Ref. 36","Ref. 83"]
["X:153649007_8","154420668_9","rs727504394","c.710_711delTG","p.Val237Alafs*73","10-3","Ref.37 (2011-b);  Ref. 83",null,null,5,"null","[a]  same as above. Germline.",null,"Ref. 37","Ref. 83"]
["X:153649007_8","154420668_9","rs727504394","c.710_711delTG","p.Val237Alafs*73","10-23","Ref. 97 (BTHS 4)",null,null,5,"null","[a] familial",null,"Ref. 97"]
["X:153649015",154420676,"rs387907218","c.718G>A    GGG > AGG","p.Gly240Arg","10-4","Ref. 2 #SWH; Ref. 83 ",null,"y.Gly261Arg  MLCL normal.    37°C expr80%; CL/MLCL",5,"SIFT 0; PPH 0.999.  ","[a]  familial. ClinVar Oct 1997. Pathogenic. Allele ID 44181",null,"Ref. 2 #SWH","Ref. 83"]
["X:153649015",154420676,"rs387907218","c.718G>A    GGG > AGG","p.Gly240Arg","10-20","Ref. 2 #DF; Ref. 86; Ref. 83 ",null,"same as above",5,"same as above","[a] germline",null,"Ref. 2","Ref. 86","Ref. 83"]
["X:153649015",154420676,"rs387907218","c.718G>A    GGG > AGG","p.Gly240Arg","10-5","Ref. 11; Ref. 83 ",null,"same as above",5,"same as above","[a] germline",null,"Ref. 11","Ref. 83"]
["X:153649015 ",154420676,"rs387907218","c.718G>A    GGG > AGG","p.Gly240Arg","10-6","Ref. 4; Ref. 21 #19; Ref. 83  ","CL 6 ","same as above",5,"same as above","[a] germline",null,"Ref. 4","Ref. 21 #19","Ref. 83"]
["X:153649015",154420676,"rs387907218","c.718G>A    GGG > AGG","p.Gly240Arg","10-7","Ref. 20;  Ref. 83 ","His CL is near normal ","same as above",5,"same as above","[a] germline",null,"Ref. 20","Ref. 83"]
["X:153649015",154420676,"rs387907218","c.718G>A    GGG > AGG","p.Gly240Arg","10-19","Ref. 56; Ref. 83",null,"same as above",5,"same as above","[a] germline",null,"Ref. 56","Ref. 83"]
["X:153649015",154420676,"rs387907218","c.718G>A    GGG > AGG","p.Gly240Arg","10-24","Ref. 86",null,"same as above",5,"same as above","[a] germline",null,"Red. 86"]
["X:153649015",154420676,"rs387907218","c.718G>A    GGG > AGG","p.Gly240Arg","10-26","Ref. 102, pt 13",null,"same as above",5,"same as above","[a] germline",null,"Ref. 102"]
["X:153649015",154420676,"rs387907218","c.718G>C    GGG > CGG","p.Gly240Arg","10-14","Ref. 62; Ref. 37 (2011-c); Ref. 83 ",null,"same as above",5,"same as above","[a] Familial.  ClinVar Oct 1997 & 2012. Pathogenic. Allele ID 51436",null,"Ref. 62","Ref. 83"]
["X:153649015",154420676,"rs387907218","c.718G>A  GGG > AGG","p.Gly240Arg","10-27","Ref. 108",null,"same as above",5,"same as above","[a] germline   (Finland)",null,"Ref.108"]
["X:153649015",154420676,"rs387907218","c.718G>A  GGG > AGG","p.Gly240Arg","10-28","Ref. 83",null,"same as above",5,"same as above","[a] germline",null,"Ref.83"]
["X:153649015",154420676,"rs387907218","c.718G>A  GGG > AGG","p.Gly240Arg","10-30","Ref. 83",null,null,5,"same as above","[a] germline",null,"Ref.83"]
["X:153649015",154420676,"rs387907218","c.718G>A  GGG > AGG","p.Gly240Arg","10-31","Ref. 83",null,null,5,"same as above","[a] germline",null,"Ref.83"]
["X:153649022_48","154420703_29",null,"c.725_751del","p.Pro242_Glu250del (in frame)","10-22","Ref. 92",null,null,5,null,"[a] de novo fr mother",null,"Ref. 92"]
["X:153649032","154420713_14",null,"c.735_736insCCCT","p.Leu246Profs*66","10-9","Ref. 14",null,null,5,"null","[a]   Familial",null,"Ref. 14"]
["X:153649035","154420716_17",null,"c.738_739insG","p.Pro247fs*64","10-17","Ref. 20",null,null,5,"null","[a]",null,"Ref. 20"]
["X:153649044_045","154420725_26  ","rs794729172","c.747_747delCGinsA","p.Glu250Serfs*17 [+RBM20 VUS]","10-18","Ref. 20",null,null,5,"null","[a] de novo fr mother","RBM20 NM_001134363  c.1364C>T   p.Ser455Leu VUS ClinVar Mar 2016 Allele ID 53139   rs189569984 ","Ref. 20"]
["X:153649044","154420725_26",null,"c.747_748ins19CGGGCGCCGGCGGCTCTCC","p.Glu250Argfs*67","10-10","Ref. 4",null,null,5,"null","[a]  Familial",null,"Ref. 4"]
["X:153649045",154420726,null,"c.748G>T    GAG > TAG","p.Glu250*","10-11","Ref. 4; Ref.74; Ref. 115;  HGMD CM115035","MLCL/CL = 21.82",null,5,"mRNA sequenced;  null","[a] de novo fr grandmother",null,"Ref. 4","Ref. 74","Ref.115"]
["X:153649048","154420729","rs372689133","c.751C>T    CGG > TGG","p,Arg251Trp","10-29","ExAC database "]
["X:153649070",154420731,null,"c.773C>A    TCG > TAG","p.Ser258*","10-12","Ref. 38     M.09.03541","MLCL5/CL6",null,null,"null","[a]",null,"Ref. 38"]
["X:153649070",154420731,null,"c.773C>A    TCG > TAG","p.Ser258*","10-13","Ref. 56",null,null,null,"null","[a]",null,"Ref. 56"]
["X:153649071_72","154420732_33",null,"c.774_775insGCTCC","p.Val760Profs*9 (+ 3 LAMA2 variants)","10-25","Ref. 20",null,null,null,"null","[a]","LAMA2: c.2059C>G, Gln687Glu (not in gnomad & ClinVar);  c. 5688C>T, His1896= (S Asian 0.9%, 5 homozyg, rs573779258); c. 6788C>T, Thr2263Met (Afr 1%), rs56209257","Ref. 20"]
[]
["Intron 10"]
["X:153649075",154420736,null,"c.777+1G>A     GT > AT","r.spl    Ex.10del?","10-a","Ref. 4;    HGMD CS115045","MLCL5/CL6",null,null,"null","[a]  200 controls [Ref. 6]   familial",null,"Ref. 4"]
["X:153649076",154420737,null,"c.777+2T>A     GT > GA","r.[700_777del]; p.Lys234_Ala259del","10-b","Ref. 6 #BSL; Ref. 34;   HGMD CS013971",null,null,null,"mRNA tested: exon 10 skipped. Ref.34","[a] germline",null,"Ref. 6 #BSL","Ref. 34"]
["X:153649244",154420905,null,"c.778-63_51del","r.?","10-d","Ref. 15",null,null,null,"null","[a]",null,"Ref. 15"]
["153649218-153649235","X:154420879-154420896","rs397515749 ","c.778-24_778-7delinsA","r.?","10-h","Ref. 37; Ref. 83; Ref. 115","MLCL/CL = 22.5",null,null,"null","[a] ClinVar Mar 2011. VUS.  Allele ID 51438  Moved to Pathogenic due to MLCL/CL ratio",null,"Ref.37","Ref.83","Ref.115"]
["X:153649138_150","154420843_855","rs876661112","c.778-2A>G     AG > GG","r.spl    Ex.11del?","10-c","Ref. 4;    HGMD CS115046",null,null,null,"null","[a] Familial",null,"Ref. 4"]
["X:153649244  ",154420905,"rs87666111. Reported as NM_181313.3 ∆5∆7 (TAZ) : c.646-2A>G","In NM_000116:  c.778-2A>G     AG > GG","r.spl    [+ NEXN VUS]","10-f","Ref. 20; Ref. 83",null,null,null,"null","[a] ClinVar Feb 10, 2016.  Allele ID 232160","NEXN NM_144573, c.1788T>G, p.Ser596Arg, VUS   ClinVar Jan 2016 Allele ID 57061    rs199738750","Ref. 83","Ref. 20"]
["X:153649244",154420905,"rs876661112","c.778-2A>G     AG > GG","r.spl","10-g","Ref. 83 ClinVar Allele ID 232160 ",null,null,null,"null","[a] Germline. ClinVar 2017 Allele ID 232160",null,"Ref.83"]
["X:153649245",154420906,null,"c.778-1G>T","r.spl","10-e","Ref. 70 fam 16","MLCL5/CL6",null,null,"null","[a] family history; mother not tested",null,"Ref. 70"]
[]
[]
["Exon 11"]
["X:153649262",154420923,null,"c.798-801delGACG","p.Asp268Serfs*9","11-1","Ref. 39;   HGMD HD080018",null,null,null,"null","[a]",null,"Ref. 39"]
["X:153649264",154420925,null,"c.800C>A       ACG > AAG","p.Thr267Lys","11-12","Ref. 90",null,null,null,"SIFT not tolerated","[a]  familial segregation",null,"Ref. 90"]
["X:153649264",154420925,null,"c.800C>T       ACG > ATG","p.Thr267Met","11-14","Ref. 83 ClinVar Allele ID 510932 Moved VUS to Path due to different same site mutn ",null,null,null,"SIFT not tolerated","[a] Germline",null,"Ref.83"]
["X:153649264_82","154420925_43",null,"c.800_818delinsGGG","p.Thr267Argfs*6","11-11","Ref. 4",null,null,null,"null","[a]  de novo fr mother",null,"Ref. 4"]
["X:153649287   ",154420948,"rs397515750","c.823C>T     CAG > TAG","p.Gln275*","11-2","Ref. 4;  Ref. 83 ",null,null,null,"null","[a]  ClinVar Apr 2008. Likely pathogenic.  Allele ID 51439",null,"Ref. 4","Ref. 83"]
["X:153649287  ",154420948,"rs397515750","c.823C>T     CAG > TAG","p.Gln275*","11-3","Ref. 37 (2008-b); Ref. 83 ",null,null,null,"null","[a]  Germline",null,"Ref. 37","Ref. 83"]
["X:153649300",154420961,null,"c.836delC                          (reported as NM_181312.3 ∆7 var :c.794delC)","p.Thr279 Ilefs*60 (p.Thr265Ilefs in ∆7)","11-13","Ref. 83  ClinVar 2017 Allele ID 427120  ",null,null,null,"null","[a]  germline",null,"Ref.83"]
["X:153649301",154420962,null,"c.837_838delTC","p.Gln280Glyfs*30","11-4","Ref. 30; Ref. 47","MLCL5/CL6",null,null,"null","[a]  Familial",null,"Ref. 30","Ref. 47"]
["X:153649337","154420998_9",null,"c.873_874insCCTGG","p.Arg292Leufs*49","11-5","Ref.4; Ref. 19; Ref. 74; Ref. 115;  HGMD CI073779","MLCL/CL =  2.67; 4.75",null,null,"null;  confirmed in mRNA","[a] de novo fr grandparent.  Familial",null,"Ref. 4","Ref. 19","Ref. 74","Ref.115"]
["X:153649337",154420998,null,"c.873delG","p.Arg292Aspfs*47","11-6","Ref. 24;    HGMD CD087576",null,null,null,"null","[a]  mother not tested",null,"Ref. 24"]
[]
[]
[]
["3' UTR",null,null,"Controls for 697 bp after termination. ",null,null,"Ref. 4"]
[]
[]
["NO MUTATION DETECTED",{"$nulls":4},"N-1","Ref. 70 fam 15","MLCL5/CL6",null,null,null,"[a]",null,"Ref. 70"]
[{"$nulls":5},"N-2","Ref. 97 BTHS6",{"$nulls":4},"[a]",null,"Ref. 97"]
[]
["LARGE DELETIONS"]
[null,null,null,"c.(461-?)_(879+?)del","Ex6_Ex11del","D-1","Ref. 4",null,null,null,"null","[a] de novo fr grandfather",null,"Ref. 4"]
[null,null,null,"c.(?-265)_(879+?)del","complete deletion","D-2","Ref. 4",null,null,null,"null","[a]  familial",null,"Ref. 4"]
[null,null,null,"c.(239-?)_(460+?)del","Ex3_Ex5del","D-3","Ref. 20",null,null,null,"null","[a] de novo  from mother",null,"Ref. 20"]
[null,null,null,"c.(1-?)_(370+?)del","Ex1_Ex4del    p.0   ","D-4","Ref. 20",null,null,null,"null","[a]",null,"Ref. 20"]
[null,null,null,"c.(778_879+?)del","Ex11_3'UTRdel","D-5","Ref. 4",null,null,null,"null","[a]",null,"Ref. 4"]
[null,null,null,"c.-1,100-+12,600del","complete deletion","D-6","Ref. 43",null,null,null,"null","[a]",null,"Ref. 43"]
[null,null,null,"incomplete description","deletion","D-7","Ref. 20",null,null,null,"null","[a] Mother likely carrier",null,"Ref. 20"]
[null,null,null,"Ex1_Ex4del","Ex1_Ex4del, p=0  X:153640181 - 153641904 (GRCh37)","D-24","Ref. 115","MLCL/CL = 57.73",null,null,"null","[a]  Familial.  ClinVar Jan 2010 Allele ID 176309   likely path",null,"Ref. 37","Ref. 83","Ref. 43","Ref.115"]
[null,null,null,"Ex1_Ex4del","Ex1_Ex4del, p=0  X:153640181 - 153641904 (GRCh37)","D-10","Ref. 37,  2010-a; Ref. 83; Ref. 115",null,null,null,"null","[a] familial",null,"Ref.37","Ref.83","Ref.115"]
[null,null,null,"Ex1_Ex5 del","Ex1_Ex5 del","D-19","Ref. 20",null,null,null,"null","[a]  inherited",null,"Ref. 20"]
[null,null,null,"Ex1_Ex5 del","Ex1_Ex5 del","D-8","Ref. 20",null,null,null,"null","[a] Mother not tested",null,"Ref. 20"]
[null,null,null,"Ex1_Ex5del","Ex1_Ex5del  [+ several DMD variants]","D-11","Ref. 20",null,null,null,"null","[a] Mother likely carrier due to family history","DMD NM_004006. c.6463C>T p.Arg2155Trp.  Benign/likely benign   Also 6 other DMD SNPs. ClinVar Jun2016 Allele ID 100641,    rs1800273","Ref. 20"]
[null,null,null,"Ex1_Ex5 del","Ex1_Ex5 del","D-15","Ref. 70 fam 1","MLCL5/CL6",null,null,"null","[a]",null,"Ref. 70"]
[null,null,null,"Ex1_Ex5 del","Ex1_Ex5 del","D-20","Ref. 20; Ref. 115","MLCL/CL = 40.86",null,null,"null","[a]",null,"Ref. 20","Ref.115"]
[null,null,null,"Ex2_ex11del","Ex2_ex11del","D23","Ref.20",null,null,null,"null","[a]",null,"Ref.20"]
[null,null,null,"c.460+357_c. 879+1,979 del","Ex6_Ex11","D-12","Ref. 66","MLCL5/CL6",null,null,"null","[a]  Familial",null,"Ref. 66"]
[null,null,null,"c.460+2103_2141del38;  c.460+2255_c.812del","Ex6_Ex11","D-13","Ref. 66",null,null,null,"null","[a]  Familial",null,"Ref. 66"]
[null,null,null,"Ex6_Ex11del","Ex6_Ex11del","D-16","Ref. 70 fam 7","MLCL5/CL6",null,null,"null","[a]  Familial",null,"Ref. 70"]
[null,null,null,"Ex6_Ex11del","Ex6_Ex11del","D-17","Ref. 70 fam 8","MLCL5/CL6",null,null,"null","[a] de novo from mother",null,"Ref. 70"]
[null,null,null,"Ex8_Ex9 del","Ex8_Ex9 del","D-18","Ref. 70 fam 12","MLCL5/CL6",null,null,"null","[a]  Familial",null,"Ref. 70"]
[null,null,null,"Ex9 del","153648475-153648608","D-24","Ref. 109",null,null,null,"null","[a]",null,"Ref.109"]
[null,null,null,"incomplete description","TAZ gene deletion","D-14","Ref. 64",null,null,null,"null","[a] family hist sib died young",null,"Ref. 64"]
[null,null,null,"partial deletion","incomplete description","D-21","Ref. 70, Ref. 85","MLCL5/CL6",null,null,"null","[a] de novo ???",null,"Ref. 70","Ref. 85"]
[null,"brother of below",null,"NM_006730.2(DNASE1L1)c.-517_NM_000116.3(TAZ)c.461-3518delinsKP_123427 ","Ex1_Ex5 del","D-22a","Ref. 81","MLCL/CL = 5.51",null,null,"null","[a] de novo in maternal cell line.  D-22a & D-22b are brothers. Mom has 3 cell lines",null,"Ref. 81"]
[null,"brother of above",null,"NM_000116.3(TAZ)c.-72_109+51del","Ex 1 del","D-22b","Ref. 81",null,null,null,"null","[a] de novo in maternal cell line.  D-22a & D-22b are brothers. Mom has 3 cell lines",null,"Ref. 81"]
[]
[]
[]
["CHROMOSOMAL CHANGES"]
[]
[null,null,null,"Ring X with Xq28 deletion mosaic + deletion TAZ exons 1-5.",null,"C-1","Ref. 44; Ref. 70","MLCL5/CL6",null,null,null,"[a] FEMALE",null,"Ref. 44","Ref. 70"]
[]
[]
[]
["COMMENTS"]
["[a]",null,null,"Considered non-functional: STOP codons, frameshifts, splicing alterations, large deletions. Likely pathogenic: de novo (new mutation)"]
["[b]",null,null,"Amino acid is either evolutionarily invariant (in alignment of >70 vertebrates & >65  invertebrates) or highly conserved."]
["[c]",null,null,"Yeast tafazzin amino acid numbering that corresponds to that of the human mutation. Human mutations were introduced into yeast for functional studies & CL/MLCL measurement.  Ref. 49 & 61",{"$nulls":9},"Ref. .49","Ref. 61"]
[]
[]
[]
["References for Tafazzin (TAZ) Variants Table:"]
[null,"PMID"]
["Ref #1",10484795,"Cantlay, AM, Shokrollabi, K, Allen, JT, Lunt, PW, Newbury-Ecob, RA, Steward, CG.  (1999)  Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.  J Pediatr. 1999 "]
[null,null,"     Sep;135(3):311-5.  (PubMed Abstract) (Detection method:  nucleotide sequencing of cloned PCR fragments.) "]
[]
["Ref #2",9382096,"D'Adamo, P, Fassone, L, Gedeon, A, Janssen, EAM, Bione, S, Bolhuis, PA, Barth, PG, Wilson, M, Haan, E, Orstavik, KH, Patton, MA,Green, AJ, Zammarchi, E,Donati, MA,Toniolo, D.  (1997) The X-"]
[null,null,"linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.  Am J Hum Genet. 1997 Oct;61(4):862-7. (PubMed Abstract)  (Detection method:  nucleotide sequencing of duplicate PCR products, both orientations.) "]
[]
["Ref #3",9345098,"Johnston, J, Kelley, RI, Feigenbaum, A, Cox, GF, Iyer, GS, Funanage, VL, Proujansky, R.  (1997)  Mutation characterization and genotype-phenotype correlation in Barth syndrome.   Am J Hum "]
[null,null,"Genet. 1997 Nov;61(5):1053-8.  (PubMed Abstract) (Detection method:  nucleotide sequencing, direct on PCR products from genomic DNA and of cloned fragments from RT-PCR.) "]
[null,null,"* Erratum for Proband #10:  mutation is p.Ile209Asn (not Ile209Asp) "]
[]
["Ref #4","direct submission","Kirwin, S, Gonzalez, IL.  Direct submission.  A I duPont Hospital for Children, Molecular Diagnostics Laboratory, 1600 Rockland Road, Wilmington, Delaware 19899, USA.  (Detection method:  duplicate PCR on genomic "]
[null,null,"DNA, whole gene sequencing in both orientations (except the 5 kb intron 5). "]
[null,null," "]
["Ref #5","direct submission","Steward, CG. Direct submission.  Bristol Royal Hospital for Sick Children, Dept. of Paediatric Oncology/BMT, Level 6, Upper Maudlin Street, Bristol, BS2 8BJ, UNITED KINGDOM"]
[]
["Ref #6",11238270,"Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA.  (2001)  Novel gene mutations in patients with left ventricular noncompaction  "]
[null,null,"or Barth syndrome.  Circulation. 2001 Mar 6;103(9):1256-63 (PubMed Abstract) (Detection method:  SSCP followed by fragment excision from gels and direct sequencing of all normal and abnormal conformers.) "]
[]
["Ref #7",14764526,"Kuijpers, TW, Maianski, NA, Tool, ATJ, Becker, K, Plecko, B, Valianpour, F, Wanders, RJA, Pereira, R, Van Hove, J, Verhoeven, AJ, Roos, D, Baas, F, Barth, PG.  (2004)  Neutrophils in Barth syndrome "]
[null,null,"(BTHS) avidly bind annexin-V in the absence of apoptosis.  Blood 15 May 2004, 103(10):3915-3923. (PubMed Abstract)"]
[]
["Ref #8",11735032,"Sakamoto O, Ohura T, Katsushima Y, Fujiwara I, Ogawa E, Miyabayashi S, Iinuma K.  (2001)  A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice "]
[null,null,"donor site with variant GC consensus and elongation of the upstream exon.  Hum Genet. 2001 Nov;109(5):559-63. Epub 2001 Oct 13. (PubMed Abstract) (Detection method:  Entire sequence of gene:  no exonic/splice signal "]
[null,null,"mutation (Katsushima, Y, 2002).  This paper:  RT-PCR on mRNA followed by cloning and nucleotide sequencing.  Amplification of genomic DNA spanning exons 3-4 and direct sequencing.  Also restriction analysis of genomic PCR products.  "]
[]
["Ref #9",12032589,"Sakamoto O, Kitoh T, Ohura T, Ohya N, Iinuma K.  (2002)  Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.  J Hum Genet. 2002;47(5):229-31. (PubMed Abstract)"]
[]
["Ref #10",12529714,"Vesel S, Stopar-Obreza M, Trebusak-Podkrajsek K, Jazbec J, Podnar T, Battelino T.  (2003)  A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.  Eur J Hum Genet. 2003 Jan;11(1):97-101 (PubMed  Abstract)"]
[]
["Ref #11",11896212,"Bissler JJ, Tsoras M, Goring HH, Hug P, Chuck G, Tombragel E, McGraw C, Schlotman J, Ralston MA, Hug G.  (2002)  Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and "]
[null,null,"ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.  Lab Invest. 2002 Mar;82(3):335-44. (PubMed Abstract)"]
[]
["Ref #12",9382097,"Bleyl SB,  Mumford BR, Thomson V, Carey JC, Pysher TJ, Chin TK, Ward K.  (1997)  Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.  Am J "]
[null,null,"Med Genet. 1997 Oct;61(4):868-72. (PubMed Abstract) (Detection method:  SSCP,  fragment excision, re-PCR of abnormal fragment, nucleotide sequencing.  Additionally: segregation analysis in large pedigree by"]
[null,null,"linkage analysis.) "]
[]
["Ref #13",12468278,"Chen R, Tsuji T, Ichida F, Bowles KR, Yu X, Watanabe S, Hirono K, Tsubata S, Hamamichi Y, Ohta J, Imai Y, Bowles NE, Miyawaki T, Towbin JA.  Noncompaction study collaborators.  (2002)  "]
[null,null,"Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.  Mol Genet Metab. 2002 Dec;77(4):319-25.(PubMed Abstract) (Detection method:  SSCP followed by excision of normal and "]
[null,null,"abnormal conformers and nucleotide sequencing.  Also direct genomic DNA sequencing of all males.  RT-PCR analysis of mRNA.). "]
[]
["Ref #14","direct submission","Medizinisch Genetisches Zentrum (MGZ), Direct submission. Bayerstrasse 3-5,  80335 München,  GERMANY.  (Detection method:  DHPLC followed by sequencing if needed.)"]
[]
["Ref #15","direct submission","John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Houston, TX, USA.  Direct submission by Bowles, KR,  Ph.D., FACMG.  (Detection method:  Sequencing of genomic DNA in both orientations.)"]
[]
["Ref #16",17224687,"Miller, TE, You, L, Benke, PJ, Bishopric, N.  University of Miami School of Medicine, Miami, FL.  (2005)  Rapid screening of complex genetic disorders associated with heart disease using direct whole blood  "]
[null,null,"RT-PCR.  JACC Volume 45, Issue 3, Supplement 1, Pages A1-A555  (1 February 2005). (PubMed Abstract)"]
[]
["Ref #17",15793838,"Gonzalez, IL.  (2005)  Barth Syndrome:  TAZ gene mutations, mRNAs, and Evolution.  Am J Med Genet A. 2005 May 1;134(4):409-14. (PubMed Abstract)"]
[]
["Ref #18",16427346,"Xing Y, Ichida F, Matsuoka T, Isobe T, Ikemoto Y, Higaki T, Tsuji T, Haneda N, Kuwabara A, Chen R, Futatani T, Tsubata S, Watanabe S, Watanabe K, Hirono K, Uese K, Miyawaki T, Bowles KR, Bowles "]
[null,null,"NE, Towbin JA.  (2006)  Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.  Mol Genet Metab. 2006 May;88(1):71-7. (PubMed Abstract)  (Detection method:  SSCP followed by "]
[null,null,"excision of normal and aberrant bands and nucleotide sequencing.) "]
[]
["Ref #19",17241629,"Kirwin, SM, Vinette, KM, Schwartz, SB, Funanage, VL, Gonzalez, IL.  (2007)  Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.  Fertil Steril. 2007 Apr;87(4):976.e5-7. Epub 2007 Jan 22. (PubMed Abstract)"]
[]
["Ref #20","direct submission","Reported by family."]
[]
["Ref #21",14662265,"Schlame, M, Kelley, RI, Feigenbaum, A, Towbin, JA, Heerdt, PM, Schieble, T, Wanders, RJA, DiMauro, S, Blanck, TJJ.  (2003)  Phospholipid abnormalities in children with Barth syndrome.   J Am Coll "]
[null,null,"Cardiol. 2003 Dec 3;42(11):1994-9. (PubMed Abstract)"]
[]
["Ref #22",12410207,"Valianpour, F, Wanders, RJA, Overmars, H, Vreken, P. van Gennip, AH, Baas, F, Plecko, B, Santer, R, Becker, K, Barth, PG.  (2002)  Cardiolipin deficiency in X-linked cardioskeletal myopathy and "]
[null,null,"neutropenia (Barth syndrome MIM 302060):  A study in cultured skin fibroblasts.   J Pediatr. 2002 Nov;141(5):729-33.  (PubMed Abstract)"]
[]
["Ref #23",11118295,"Vreken, P, Valianpour, F, Nijitmans, LG, Grivell, LA, Plecko, B, Wanders, RJA. Parth, P.  (2000)  Defective remodeling of cardiolipin and phosphatidylglycerol in Barth Syndrome.  Biochem Biophys Res Commun. 2000 Dec 20;279(2):378-82 (PubMed Abstract)"]
[]
["Ref #24",19037987,"Sweeney, RT, Davis, GJ, Noonan, JA.  (2008)  Cardiomyopathy of unknown etiology: Barth syndrome unrecognized.  Congenit Heart Dis. 3(6):443-448  (PubMed Abstract)"]
[]
["Ref #25",16548007,"Brady AN, Shehata BM, Fernhoff PM.  (2006)  X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.  Prenat Diagn. 2006 May;26(5):462-5. (PubMed Abstract)"]
[]
["Ref #26",16020776,"Saunders MA, Slatkin M, Garner C, Hammer MF, Nachman MW.  (2005)  The extent of linkage disequilibrium caused by selection on G6PD in humans.  Genetics. 2005 Nov;171(3):1219-29.  (PubMed Abstract)"]
[]
["Ref #27",1719174,"Kelley, RI, Cheatham, JP, Clark, BJ, Nigro, MA, Powell, BR, Sherwood, GW, Sladky, JT, et al.  (1991)  X-linked cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.  J "]
[null,null,"Pediatr 1991 Nov;119(5):738-47. (PubMed Abstract)"]
[]
["Ref #28",8042670,"Christodoulou, J, McInnes, RR, Jay, V, Wilson, G, Becker, LE, Lehotay, DC, Platt, B-A, et al.  (1994)  Barth syndrome: Clinical observations and genetic linkage studies.  Am J Med Genet. 1994 Apr "]
[null,null,"15;50(3):255-64. (PubMed Abstract)"]
[]
["Ref #29",16873891,"van Werkhoven, MA, Thorburn, DR, Gedeon, AK, Pitt, JJ.  (2006)  Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth syndrome.  J Lipid Res 47(10):2346-51. (PubMed Abstract)"]
[]
["Ref #30","direct submission","Julie Honeychurch / Maggie Williams, Direct submission, Bristol Genetics Laboratory, Southmead Hospital, Bristol BS10 5NB, UK. (Detection method: DNA bi-directional sequencing)"]
[]
["Ref #31",16906470,"Donati, MA, et al.,  (2006)  Barth syndrome presenting with acute metabolic decompensation in the neonatal period.  J Inherit Metab Dis. 2006 Oct;29(5):684. Epub 2006 Aug 12.  (PubMed Abstract)  (Detection method: DNA sequencing, duplicates, both orientations)  "]
[]
["Ref #32",19700766,"Xu Y, Zhang S, Malhotra A, Edelman-Novemsky I, Ma J Kruppa A, Cernicica C, Blais S, Neubert TA, Ren M, Schlame M.  (2009)  Characterization of tafazzin splice variants from humans and"]
[null,null,"fruitflies.  JBC 284(42): 29230-9. (PubMed Abstract)"]
[]
["Ref #33",17394203,"Marziliano, N,  et al.  (2007)  Barth Syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 Genes.  Am J Med Genet Part A. 2007 May 1;143(9):907-15  "]
[null,null," (Detection method: bidirectional sequencing of PCR amplicons) (PubMed Abstract)"]
[]
["Ref #34",15172004,"Kenton AB, et al.  (2004)  Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK binding protein-12. Mol Genet Metab 82:162-166.  (PubMed Abstract)  "]
[null,null,"(Method used:  RT-PCR & sequencing study of transcript) "]
[]
["Ref #35",17846786,"Yen TY, et al.  (2007)  Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.  Eur J Pediatr. 2008 Aug;167(8):941-4. Epub 2007 Sep 11.  (PubMed Abstract)"]
[]
["Ref #36","direct submission","John Christodoulou, Direct submission. Western Sydney Genetics Program, Westmead, NSW, AUSTRALIA"]
[]
["Ref #37","direct submission","Laboratory for Molecular Medicine,  Direct submission.  Harvard Partners Center for Genetics and Genomics, Cambridge, MA, USA"]
[]
["Ref #38","direct submission","Melanie Pennock / Maggie Williams, Direct submission. Bristol Genetics Laboratory, Southmead Hospital, Bristol BS10 5NB, UK. "]
[]
["Ref #39",18846664,"Tikhomirov E, Averyanova N, Basargina E, Degtyareva T.  (2008)  Report on pg. 315-316 in \"Novel human pathological mutations,\" Hum Genet. 124:293–324. (PubMed Abstract) "]
[]
["Ref #40",8630491,"Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D.  (1996)  A novel gene, G4.5, is responsible for Barth syndrome. Nat Genet. 1996 Apr;12(4):385-389. (PubMed Abstract)"]
[]
["Ref #41",19261493,"Bachou T, Giannakopoulos A, Trapali C, Vazeou A, Kattamis A.  (2009)  A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome.  Blood Cells Mol Dis. 2009 May-Jun;42(3):262-4. Epub 2009 Mar 3.  (PubMed Abstract)"]
[]
["Ref #42",19438153,"Cortez-Dias N, Varela MG, Sargento L, Brito D, Almeida A, Cerqueira R, Lanca V, Fernandes AR, Tavares P, Pereira RA, Fernandes A, Madeira H.  (2009)   "]
[null,null,"Left ventricular non-compaction: a new mutation predisposing to reverse remodeling?  Rev Port Cardiol. 2009 Feb;28(2):185-194. (PubMed Abstract)"]
[]
["Ref #43",19396829,"Singh HR, Yang Z, Siddiqui S, Pena LS, Westerfield BH, Fan Y, Towbin JA, Vatta M.  (2009)  A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome."]
[null,null,"Am J Med Genet A. 2009 May;149A(5):1082-1085 (PubMed Abstract)"]
[]
["Ref #44",22410210,"Cosson L, Toutain A, Simard G, Kulik W, Gabor M, Guichet A, Blasco H, Maakaroun-Vermese Z, Vaillant M-C, Le Caignec C, Chantepie A, Labarthe F.  (2012)  Barth syndrome in a female patient.  "]
[null,null,"Mol Genet Metab. 2012 May;106(1):115-20. Epub 2012 Jan 24.  (PubMed Abstract)\n"]
[]
["Ref #45",20303308,"Chang B et al.  (2010)  Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.  "]
[null,null,"Mol Genet Metab. 2010 Jun;100(2):198-203. Epub 2010 Mar 2.  (PubMed Abstract)"]
[]
["Ref #46",20981509,"Aljishi E, Ali F.  (2010)  Barth syndrome: An X-linked cardiomyopathy with a novel mutation.  Indian J Pediatr. 2010 Dec;77(12):1432-3. Epub 2010 Oct 28.  (PubMed Abstract)"]
[]
["Ref #47",20812380,"Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, Kulik W, Wanders R, Pennock M, Williams M, Cresswell JL, Gonzalez IL, Brennan P.  (2010)"]
[null,null,"Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.  Prenat Diagn. 2010 Oct;30(10):970-6.  (PubMed Abstract)"]
[]
["Ref #48","direct submission","van Slegtenhorst M.  (2011)  Direct submission.   Clinical Genetics, Erasmus MC Rotterdam, THE NETHERLANDS"]
[]
["Ref #49",21300850,"Claypool SM, Whited K, Srijumnong S, Han X, Koehler CM.  (2011)  Barth syndrome mutations that cause tafazzin complex lability.  J Cell Biol. 2011 Feb 7;192(3):447-62.  (PubMed Abstract)"]
[]
["Ref #50",21932011,"Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T.  (2011)  Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and "]
[null,null,"isolated noncompaction of the ventricular myocardium.  Eur J Pediatr. 2011 Nov;170(11):1481-4. Epub 2011 Sep 20.  (PubMed Abstract)\n"]
[]
["Ref #51","n/a","Taylor M, Slavov D, Salcedo E, Zhu X, Ferguson D, Jirikowik J, Di Lenarda A, Sinagra G, Mestroni L.  (2011)  Tafazzin gene mutations are uncommon causes of"]
[null,null," dilated cardiomyopathy in adults.  Cardiogenetics 2011.  1(1):9-12    LISTED IN VUS"]
[]
["Ref #52",21987083,"Momoi N, Chang B, Takeda I, Aoyagi Y, Endo K, Ichida F.  (2011)  Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction."]
[null,null,"Eur J Pediatr. 2012 Mar;171(3):515-20. Epub 2011 Oct 7.  (PubMed Abstract)"]
[]
["Ref #53","From database","Ensembl Genome Server    http://useast.ensembl.org/index.html; ",null,null,null," database SNP   http://www.ncbi.nlm.nih.gov/snp/",null,"1000 Genomes"]
[]
["Ref #54","From database","NHLBI Exome server  http://evs.gs.washington.edu/EVS/"]
[]
["Ref #55","From database","Leiden Open Variation Database  http://www.genomed.org/LOVD/CM/variants.php?select_db=TAZ&action=view&view=0001707%2C0000034%2C0"]
[]
["Ref #56","direct submission","Anthony Krentz,   Direct submission.  PreventionGenetics, Marshfield, WI, USA   "]
[]
["Ref #57","From database","SNP   (Single Nucleotide Polymorphism)   database  http://www.ncbi.nlm.nih.gov/snp/"]
[]
["Ref #58",22999963,"Sabater-Molina M, Guillén-Navarro E, García-Molina E, Ballesta-Martínez MJ, Escudero F, Ruiz-Espejo F. Barth syndrome in adulthood: a clinical case. Rev Esp Cardiol (Engl Ed). 2013 Jan;66(1):68-70. Epub 2012 Sep 21"]
[]
["Ref #59","n/a","Bijarnia-Mahay S, Borkar M, Kotecha U, Saxena R, Verma IC. Molecular diagnosis of Barth syndrome – first case report from India. J Inherit Metab Dis 2012 35Suppl 1 P-119.tiff"]
[null,null,"$ MUTATION OF PATIENT IS INCORRECTLY REFERRED TO cDNA VARIANT 2. Correct in NM_000116 is c.520T>G, p.Trp174Gly"]
[]
["Ref #60",23031367,"Ronvelia D, Greenwood J, Platt J, Hakim S, Zaragoza MV  Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and "]
[null,null,"heart failure in an infant and left ventricular noncompaction in his great-uncle.  Mol Genet Metab. 2012 Sep 18. pii: S1096-7192(12)00354-X. doi: 10.1016/j.ymgme.2012.09.013. [Epub ahead of print]"]
[]
["Ref #61",23100323,"Whited K, Baile MG, Currier P, Claypool SM. Seven functional classes of Barth syndrome mutation. Hum Mol Genet. 2012 Oct 24. [Epub ahead of print]"]
[]
["Ref #62",23345479,"Man E, Lafferty KA, Funke BH, Lun KS, Chan SY, Chau AK, Chung BH.  NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy. "]
[null,null,"BMJ Case Rep. 2013 Jan 22;2013"]
[]
["Ref #63",22090233,"Karkucinska-Wieckowska  A, Trubicka J, Bozena W, Kokoszynska K, et al. Left ventricular noncompaction (LVNC) and low mitochondrial membrane "]
[null,null,"potential are specific for Barth syndrome.   J Inherit Metab Dis. 2013 Nov;36(6):929-37  "]
[]
["Ref #64",18781126,"McCanta A, Chang A, Weiner K.  Cardiomyopathy in a child with neutropenia and motor delay.  Curr Opin Pediatr 20(5):605-7.  2008"]
[]
["Ref #65",23606313,"Fan Y, Steller J, Gonzalez IL, Kulik W, et al.  2013.  A novel exonic splicing mutation in the TAZ (G4.5) gene in a case with atypical Barth syndrome. J Inherit Metab Dis Reports 11:99-106"]
[]
["Ref #66",23409742,"Ferri L, Donati MA, Funghini S, Malvagia S, et al.  New clinical and molecular insights on Barth syndrome. Orphanet J Rare Dis. 2013 Feb 14;8(1):27. "]
[]
["Ref #67",23523468,"Gonzalvez F, D'Aurelio M, Boutant M, Moustapha A, Puech J-P, Landes T, Arnauré L, et al.  2013.  Barth syndrome: Cellular compensation of mitochondrial"]
[null,null,"dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to Tafazzin gene mutation. Biochim Biophys Acta. 2013 Aug;1832(8):1194-206"]
[]
["Ref #68",24093814,"Mazurova S, Tesarova M, Magner M, Houstkova H, Hansikova H, Augustinova J, Tomek V, Vondrackova A, Zeman J, Honzik T.  Novel mutations in the TAZ gene"]
[null,null,"in patients with Barth syndrome   Prague Medical Report 114 (2013) No. 3 p.139-152"]
[]
["Ref #69","direct submission","Belén Pérez,  Direct submission.  Centro de Diagnóstico de Enfermedades Moleculares, Univ. Autónoma de Madrid, Madrid, SPAIN"]
[]
["Ref #70",23656970,"Rigaud C, Lebre A-S, Touraine R, Beaupain B, et al. 2013  Natural history of Barth syndrome: A national cohort of 22 patients. Orphanet J Rare Dis. 2013 May 8"]
[]
["Ref #71",23678274,"Kim GB, Kwon BS, Bae EJ, Noh CI, Seong M-W, Park SS.  2013  A novel mutation of the TAZ gene in Barth syndrome:  Acute exacerbation after"]
[null,null,"contrast dye injection.  J Korean Med Sci  28:784-787"]
[]
["Ref #72","direct submission","Ewa Pronicka & Joanna Trubicka,  Direct submission,  Dept of Medical Genetics, The Children's Memorial Health Institute, Warsaw, POLAND. "]
[]
["Ref #73","n/a","Villard, E, et al. 2010.  Analysis of TAZ (tafazzin) and LDB3 (LIM domain-binding3/Cypher/ZASP) genes in Left ventricular non compaction.  Archives of Cardiovascular Diseases "]
[null,null,"Supplements 2, 22-38.  (page 27)",null,"TAZ mutation reported as Met155Val:  should be \"predicted Met 185Val\" .  Is now known to be exonic splice mutation (Ref 65)"]
[]
["Ref #74",24342716,"Kirwin S, Manolakos A, Barnett SS, Gonzalez IL  2013.  Tafazzin splice variants and mutations in Barth syndrome. Mol Genet Metab. 2014 Jan;111(1):26-32"]
[]
["Ref #75","direct submission","Barbara Zapała, Teresa Staszel, Iwona Wybrańska, Beata Kieć-Wilk,   Direct submission.  Departament of Clinical Biochemistry"]
[null,null,"Jagiellonian University Medical College,  Krákow, POLAND. "]
[]
["Ref #76",24887148,"Folsi et al., 2014. Cardiomyopathy in a male patient with neutropenia and growth delay.  Ital J Pediatr. 2014 May 12"]
[]
["Ref #77",23792436,"Dudek J, Cheng I-F, Balleininger M, et al. 2013  Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem "]
[null,null,"cell model of Barth syndrome.  Stem Cell Research 11, 806-819"]
[]
["Ref #78","direct submission","Surita Meldau, Medical Scientist (M.Sc Med)   Direct submission 2014.  IMD Laboratory, Chemical Pathology, National Health Service, SOUTH AFRICA. "]
[]
["Ref #79",25112388,"Bowron A1, Honeychurch J, Williams M, Tsai-Goodman B, Clayton N, Jones L, Shortland GJ, Qureshi SA, Heales SJ, Steward CG.2014.  "]
[null,null,"Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.  J Inherit Metab Dis. 2014 Aug 12. [Epub ahead of print]"]
[]
["Ref #80",19648820,"Hastings R1, Steward C, Tsai-Goodman B, Newbury-Ecob R.  Dysmorphology of Barth syndrome.  Clin Dysmorphol. 2009 Oct;18(4):185-7"]
[]
["Ref #81",25782672,"Ferri L, Donati MA, Funghini S, Cavicchi C, Pensato V, Gellera C, Natacci F, Spaccini L, Gasperini S, Vaz FM, Cooper DN, Guerrini R, Morrone A. 2014."]
[null,null," Intraindividual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. Eur J Hum Genet. 2015 Dec;23(12):1708-12."]
[]
["Ref #82",25776009,"Zapala B, Platek T, Wybrańska I.  2015.  A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome."]
[null,null,"Ann Hum Genet. 2015 May;79(3):218-24"]
[]
["Ref #83","NCBI database","ClinVar    http://www.ncbi.nlm.nih.gov/clinvar/"]
[]
["Ref #84","n/a","Borkar M, Bijarnia-Mahay, et al. 2015  Identification of a novel TAZ gene mutation in a family with X-linked dilated cardiomyopathy "]
[null,null,"Barth Syndrome.  Journal of Inborn Errors of Metabolism and Screening 1-5.  DOI: 10.1177/232640981 4567131.Typos in paper - mutation is Trp174Gly in exon 6"]
[]
["Ref #85","n/a","Walther-Louvier U, Schlegel H, Mercier M, Carneiro M, Echenne B, Voisin M, Chabrier S, Boyer S, Touraine R, Rivier F.  2010."]
[null,null,"P309 - Le Syndrome de Barth: a propos d'un cas.  Poster at 2nd Congress of the Pediatrics Societies, June 16-19, 2010"]
[null,null,"Archives de Pédiatrie 17(6) S1. p.127"]
[]
["Ref #86",4685904,"Lindenbaum RH, Andrews PS, Khan ASSI 1973  Two cases of endocardial fibroelastosis -  possible X-linked determination.  British"]
[null,null,"Heart Journal 35:38-40."]
[]
["Ref #87",26724946,"Thiels, C, Fleger, M, Huemer, M, Rodenburg, RJ, Vaz, FM, et al. 2016.  Atypical clinical presentations of TAZ mutations: "]
[null,null," An underdiagnosed cause of growth retardation?  JIMD Rep. 2016;29:89-93      NOTE:  MUTATION OF PATIENT 1 SHOULD BE  p.Asp219Glufs*1"]
[]
["Ref #88",26908608,"Lu Y-W et al. 2016.  Defining functional classes of Barth syndrome mutation in humans. Hum Mol Genet. 2016 May 1;25(9):1754-70 "]
[]
["Ref #89","direct submission","Morrone, A, Direct submission.  Molecular and Cell Biology Laboratory, Meyer Children’s Hospital, ITALY.  "]
[]
["Ref #90",27124939,"Brión, M, de Castro López MJ, Santori M, Pérez Muñuzuri A, López Abel B, Baña Souto AM, Martínez Soto AM, Couce ML.  2016."]
[null,null,"Prospective and retrospective diagnosis of Barth syndrome aided by next-generation sequencing.  Am J Clin Pathol. 2016 Apr;145(4):507-13  [Epub ahead of print] 145(4):507-513"]
[null,null,"NOTE:  MUTATION OF PATIENT IS INCORRECTLY REFERRED TO cDNA VARIANT 2 in the article. Correct ref sequence NM-000116, c.800, p.Thr267Lys"]
[]
["Ref #91",27220577,"Xiang, H et al. 2016. The pathogenic gene screening in a cardiomyopathy pedigree of Yunnan province.  Zhonghua Xin Xue Guan Bing Za Zhi. 2016 May 24;44(5):416-20"]
[null,null,"NOTE:  PATIENT VARIANT IS INCORRECTLY REFERRED TO cDNA VARIANT ∆5∆7 in the article. Correct in NM_000116 is c.715A>G; p.Ile239Val.."]
[null,null,"TAZ VARIANT LIKELY BENIGN , listed in \"BENIGN\" tab.    PHENOTYPE MAY BE DUE TO EITHER MYH7 OR TTN VARIANT, OR BOTH."]
[]
["Ref #92","27358708","Yoo, TY et al.  2016.  Identification of a novel de novo mutation in the TAZ gene of a Korean patient with Barth syndrome.  J Cardiovasc Ultrasound  24(2):153-157"]
[]
["Ref #93",27290639,"Pronicka, E. et al. 2016 New perspective in diagnostics of mitochondrial disorders: Two years' experience with whole exome "]
[null,null,"sequencing at a national paediatric centre.  J Transl Med. 2016 Jun 12;14(1):174"]
[]
["Ref #94","n/a","Avdjieva-Tzavella D, Tododrova A, Kathom H, et al. 2016 Barth syndrome in male and female siblings caused by a novel mutation in the TAZ gene. Genetic Counseling 27(4):495-501."]
[]
["Ref #95",28123175,"Borna NN et al. 2017  A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy. J Hum Genet. 2017 Jan 26"]
[]
["Ref #96a",28108107,"Woiewodski L, Ezon D, Cooper J, Feingold B 2017. Barth Syndrome with Late-Onset Cardiomyopathy: A missed opportunity for diagnosis. J Pediatr. 2017 Jan 18  "]
[]
["Ref #96b",28318529,"Finsterer J, Stollberger C.  2017.  Acquired noncompaction in Barth syndrome due to the TAZ mutation c.481-482ins20.  Journal of Pediatrics  March 15, 2017\n\nc.481_482ins20"]
[]
["Ref #97",28183324,"Wang J, et al. 2017  Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.   "]
[null,null,"Orphanet Journal of Rare Diseases 12:26"]
[]
["Ref #98",28289596,"Bakšienė M et al.  2016 A novel intronic splice site Tafazzin gene mutation detected prenatally in a family with Barth syndrome."]
[null,null,"British Medical Jurnal 19(2):95-100"]
[]
["Ref #99",11808885,"Katsushima Y, et al. 2002.  Normal pituitary function in a Japanese patient with Barth syndrome.  Eur J Pediatr. 161:67-68."]
[]
["Ref #100",28498465,"Zhao Y et al. 2017 Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.  "]
[null,null,"Int J Mol Med.  Published on line 2017, 2017 May 11"]
[]
["Ref#101",28855170,"Wang C et al. 2017. A wide and specific spectrum of genetic variants and Genotype-Phenotype correlations revealed by Next-Generation sequencing"]
[null,null,"in patients with Left Ventricular Noncompaction.  J Am Heart Assoc. 2017;6:e006210. DOI: 10. 1161/JAHA.117.006210."]
[]
["Ref#102",29129703,"Seo S H et al. 2017 Application of multigene panel sequencing in patients with prolonged rate-corrected QT interval and no pathogenic "]
[null,null,"variants detected in KCNQ1, KCNH2, and SCN5A.  Ann Lab Med 2018; 38(1): 54-58 "]
[]
["Ref#103",29249525,"Imai-Okazaki A, et al.2017.  Bath syndrome: Different approaches to diagnosis.  J Pediatr Dec 15. pii: S0022-3476(17)31329-X"]
[]
["Ref#104",29476731,"Sudrie-Arnaud B et al. 2018.  Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation"]
[null,null,"Clinica Chimica Acta 481 (2018) 1–8 "]
[]
["Ref#105","n/a","Tsuji N et al.  2018 Barth syndrome associated with triple mutation.  Pediatrics International (2018) 0, 1-3 "]
[null,null,"PATIENT VARIANT IS INCORRECTLY REFERRED TO cDNA VARIANT ∆5∆7 in the article.  Database listing is c.602C>T, p.Leu157Val"]
[]
["Ref#106",16970891,"Ances, BM et al.  2006.  Stroke associated with Barth syndrome.   J Child Neurol. 2006 Sep;21(9):805-7."]
[null,null,"Article contains patient phenotype only"]
[]
["Ref#107",30122738,"Hirono K, et al.  2018  Clinical and echocardiographic impact of tafazzin variants on dilated cardiomyopathy phenotype in left"]
[null,null,"ventricular non-compaction patients in early infancy. Circ. J. 2018 Aug 18.  doi 10.1253/circl.CJ-18-0470. [Epub ahead of print]"]
[]
["Ref#108",30384889,"Vasilescu C. et al.  2018  Genetic basis of severe childhood-onset cardiomyopathies.  Journal of the American College of Cardiology"]
[null,null,"72(19):2324-2338."]
[]
["Ref#109","n/a","Communicated by Dr. Saskia Wortmann-Hagemann, Technische Universität München, Institute of Human Genetics, Munich, Germany"]
[]
["Ref#110",30695891,"Nie CX et al  Barth syndrome in a case.   Zhonghua Er Ke Za Zhi. 2019 Feb 2;57(2):146-147.  Article in Chinese "]
[]
["Ref#111",27268057,"Abe M, et al. Mechanism for remodeling of the Acyl chain composition of cardiolipin catalyzed by saccharomyces cerevisiae tafazzin   2016.  "]
[null,null,"JBC 291(30):15491-15592",null,"NOTE:  the reported mutation is the yeast equivalent of human His69Gln"]
[]
["Ref#112","n/a","Communicated by Dr. Colin Steward, 2018.   Emeritus Professor of Paediatric Stem Cell Transplantation, University of Bristol, Bristol, UK"]
[]
["Ref#113",30642647,"Imai-Okazaki A, et al.  International Journal of Cardiology 2019.  279:115-121.  Cardiomyopathy in children with mitochondrial disease: "]
[null,null," Prognosis and genetic background."]
[]
["Ref#114",28062634,"Peake RWA, & KP Daly  2017.  Clinical Chemistry 63:1.  433-444.  Dilated cardiomyopathy in a 2-year-old infant"]
[null,null,"(updated phenotype of boy born ~2000)"]
[]
["Ref#115",26845103,"Thompson WR, et al.  2016.  New targets for monitoring and therapy in Barth syndrome.  Genetics in Medicine 18(10):1001-10"]
[]
[]
[]
[]
["Contact:  Iris L. Gonzalez, Ph.D.   [iris.taz1@barthsyndrome.org] "]

{"sheet":"2 VUS 2018-01","index":1,"n_rows":103,"n_cols":14,"rows_kept":103,"cut":false,"hidden":false,"merged":[],"flags":["formulas_cached_only"]}
["TABLE 2:  VARIANTS OF UNKNOWN SIGNIFICANCE (VUS), (patients, genome, exome databases)",{"$nulls":10},"2019-August-23"]
[null,null,"Reference sequences:     NCBI Reference Sequence  NM_000116.3     and     Ensembl ENST00000299328  TAZ-001 "]
[null,null,null,"protein NP_000107;  UniProtKB/Swiss-Prot: Q16635.1"]
["These splice variants listed on some reports are NOT the reference sequence - they lack some exons:  NM_181311.3 ∆5 (skips exon 5);   NM_181312.3 ∆7 (skips exon 7);   NM_181313.3  ∆5∆7 (skips exons 5 & 7)"]
[]
["TABLE 1 contains PATHOGENIC and LIKELY PATHOGENIC VARIANTS.   Repeat entries represent unrelated families."]
["TABLES 2 and 3 contain VUS, BENIGN and INTRONIC VARIANTS.  Repeated findings are combined."]
[]
["ClinVar  ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence.   http://www.ncbi.nlm.nih.gov/clinvar/  "]
["EXAC  Exome Aggregation Consortium.  The data set provided on this website spans 60706 unrelated individuals sequenced as part of various disease-specific and population genetic studies.  http://exac.broadinstitute.org"]
["Exome Server:  The goal of the NHLBI GO Exome Sequencing Project (ESP) is to discover novel genes and mechanisms contributing to heart, lung and blood disorders.  http://evs.gs.washington.edu/EVS/"]
["dbSNP  Single Nucleotide Polymorphism database (dbSNP) is a public-domain archive for a broad collection of simple genetic polymorphisms.   http://www.ncbi.nlm.nih.gov/SNP/"]
["MAF :  minor allele frequency"]
["TGP  1000 Genomes Project  A Deep Catalog of Human Genetic Variation.  http://www.1000genomes.org"]
["SIFT prediction is based on the degree of conservation of amino acid residues in sequence alignments derived from closely related sequences.  http://sift.jcvi.org"]
["PolyPhen-2 (Polymorphism Phenotyping v2) is a tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward"]
[null," physical and comparative considerations.  http://genetics.bwh.harvard.edu/pph2/"]
["Conservation:  from tafazzin alignments.  Vertebrates (mammals, birds, reptiles, amphibians, fish); invertebrates (arthropods, non arthropods).  Source:  ILG"]
[]
["AMINO ACID SUBSTITUTION VARIANTS WITH UNKNOWN EFFECTS (VUS)  (found in patients or in genome and exome databases):"]
[null,"dbSNP  rs #","Genome Assembly Release 37","Genome Assembly Release 38","cDNA","Predicted protein variation","Where found & population frequency","ClinVar","Conservation","SIFT prediction                    <0.05 deleteriouos (from tolerability table & from CONDEL)","PolyPhen2 prediction  >0.85 deleterious","SplicePort prediction","Acyltransfer-ase motif","Additional variant in another gene"]
[]
["Exon 1","rs397515737","X:153640193","X:154411856","c.13G>T","p.Val5Leu","ExAC freq: 2/29870; Eur 2/14510;  0 hemizyg.  Ref 37; Ref.83 ","ClinVar Oct 2011. VUS.  Allele ID 51423","Vertebrates 100% Val;  inverts have Ile","Tolerated 0.14",0.984,"No effect"]
["Exon 1","rs34828643 ","153640197_198","154411860_861","c.17_18insA","fs*","SNP freq n/a","Not in ClinVar"]
[]
["Exon 2","rs782760784","X:153640447","X:154412110","c.134A>G","p.His45Arg","EXAC freq 1 hemizyg/65,049","Not in ClinVar","Vertebrates: 96%","Tolerated",null,"No effect"]
["Exon 2","rs794729166","X:153640467","X:154412130","c.154G>A","p.Glu52Lys","not in ExAC","ClinVar Nov 2016 Allele ID 424569","Vertebrates highly conserved","Predict tolerated"]
[]
["Exon 3","rs376769286","X:153641558","X:154413221","c.253C>T   ","p.Arg85Cys","ExAC: 2/85980; 0 hemizyg. ",null,"Vertebrates highly conserved","Not tolerated;  0","probably-damaging:0.999","Acceptor slightly improved; donor too"]
["Exon 3","rs782196269 ","X:153641559 ","X:154413222","c.254G>A","p.Arg85His","ExAC 1/85963; 0 hemizyg",null,"Same as above","Tolerated;  0.05",0.515,"Acceptor improved;  donor score reduced"]
["Exon 3","rs782402941 ","X:153641572","X:154413235","c.267C>A or G","p.Asn89Lys","EXAC  T=0.000032",null,"Mammals: 100% cons; other vert: highly cons. ",null,null,"Acceptor slight down;  donor reduced"]
["intron 3",null,"X:153641592","X:154413255","c.284+3G>C",null,null,"ClinVar Allele ID 587184.  Germline"]
["intron 3",null,"X: 153641593","X: 154413256","c.284+4A>T",null,null,"ClinVar AlleleID 653450   Germline"]
[]
["Exon 4","not in SNP","X:153641859 ","X:154413522","c.325C>T","p.His109Tyr","not in exac or snp","ClinVar 2017; var ID 432711","Vertebrates highly conserved","Predict all tolerated"]
["Exon 4","rs781894772 ","X:153641869 ","X:154413532","c.335T>C","p.Phe112Ser","EXAC  C=0.00000824",null,"Vertebrates & arthropods: 100% cons; non-arthro inverts: highly  cons",null,null,"No effect"]
["Intron 4","rs397515742","X:153642425","X:154414088","c.371-13C>G ",null,"Ref. 37; Ref.83 ","ClinVar Dec 2011. VUS. Allele ID 51428 "]
["Intron 4",null,"X:153642432","X:154414095","c.371-6C>A",null,"Ref.83","ClinVar allele ID 615236  Jul 2017  germline"]
[]
["Exon 5",null,"X: 153642483","X: 154414146","c.416A>T","p.Asp139Val","Ref. 83"," ClinVar 2019 allele ID 649886 Germline"]
["Exon 5","not in SNP","X:153642485","X:154414148_52","c.418_422del ACAGGinsA","p.Arg142ThrfsX41","ExAC 1/79840;  1 hemizyg  LOW CONFIDENCE","Not in ClinVar.  rs782253789"]
["Exon 5","rs727503454","X:153642486","X:154414149","c.419C>T","p.Thr140Ile","Ref. 83;  not in ExAC","ClinVar Jan  2014. VUS.  Allele ID 176913 ","Not all primates","Tolerated;  0.36",0,"Acceptor much reduced; donor small reduction"]
["Exon 5","rs782253789","X:153642492_95  ","X:154414155_58","c.425_428delGGCA  or  c.419_422delCAGG","p.Arg142ThrfsX41","not in ExAC   Ref. 83","ClinVar Feb 24, 2017. Likely path. Var ID 423852","Should only manifest in FL variant"]
[]
["Intron 5","rs878853655","X:153642528","X:154414191 ","c.460+1G>A","spl","Ref.83","ClinVar Oct 2016.  Allele ID 243781  Germline"]
["Intron 5","rs878853655","X:153642528","X:154414191 ","c.460+1G>A","spl","Ref.83","ClinVar 2019.  Allele ID 243781 Germline"," "]
[]
["exon 6",null,"X: 153647890","X: 154419551","c.469G>A","p.Val157Ile","Ref.83","ClinVar allele ID \n649887  Germline"]
["Exon 6","rs782498534 ","X:153647928","X:154419589","c.507C>T","p.Leu169=","Ref. 51  Minigene assay shows mis-splicing;  ExAC 1/87673; 1 hemizyg",{"$nulls":4},"Acceptor reduced; donor much reduced.  "]
["Exon 6","rs397515744","X:153647956","X:154419617","c.535C>G   ","p.Pro179Ala [+MYBPC3 VUS]","Ref. 37; Ref. 83 ","ClinVar Mar 2013. VUS. Allele ID 51431  ","Vertebrates and inverts 100% cons.","None tolerated;  0.01 ",0.998,"Both acceptor & donor scores  increased","motif 3","MYBPC3 ClinVar Jan 2016  VUS   NM_000256 c.355G>A, p.Glu119Lys Allele ID 51891; rs397516025 - & two TTN VUSs"]
["Exon 6","rs397515744","X:153647956","X:154419617","c.535C>G   ","p.Pro179Ala ","Ref. 83","ClinVar Allele ID 51431 Nov 2017 w interpretation","Vertebrates and inverts 100% cons.","None tolerated;  0.01 ",0.998,"Both acceptor & donor scores  increased","motif 3"]
[]
["Exon 7","rs375663114","X:153648064","X:154419725","c.562G>A  ","p.Glu188Lys","ExAC 3/87324;  0 hemizyg.  ","Not in ClinVar","Vertebrates highly conserved","Tolerated;  0.28","probably-damaging: 1.0","Ex 7 acceptor reduced; donor abolished"]
["Exon 7","rs375663114","X:153648064","X:154419725","c.562G>A  ","p.Glu188Lys","Ref.83","ClinVar 2019  Allele ID 649888"]
["Exon 7","rs876661034","X: 153648074","X: 154419735","c.572G>A","p.Arg191His","See ClinVar details","ClinVar Apr 2015  VUS  Allele ID 232149","100% conserved vertebrates & invertebrates","Tolerated",null,"Donor score improved"]
["exon 7",null,"X: 153648078","X: 154419739","c.576C>G","p.Phe192Leu","Ref.83","ClinVar allele ID\n649889  Germline"]
["Exon 7","rs878853656","X: 153648085","X: 154419746","c.583G>A","p.Gly195Arg","See ClinVar details","ClinVar Mar5, 2016  VUS  Allele ID 243782","100% conserved vertebrates & invertebrates","Only Gly tolerated",null,"Donor score much reduced"]
[]
[]
["Intron 7","rs397515745 ","X:153648364","X:154420025","c.584-7T>C",null,"Ref. 37; Ref.83;  EXAC 2/87753; 1 hemizyg;  ","ClinVar Jul 2012, Var ID42263. VUS. ",null,null,null,"Ex7 acc & donor score normal.  Ex8 acc higher; donor score reduced"]
[]
["Exon 8","rs371236390","X:153648380","X:154420041","c.593G>A    ","p.Arg198His","ExAC Afr 1/87759; 1 hemizyg. Afr","Not in ClinVar","Vertebrates 100%;  inverts have 2 Asn","Not tolerated;  0","probably-damaging:0.989","Ex8 acc & donor normal; ex 9 acc normal"]
["Exon 8","rs781893396","X:153648393","X:154420054","c.606G>C","p.Glu202Asp","ExAC S Asian 2/87761; 1 hemizyg","ClinVar VUS. Germline. Allele ID 573735. Jun 2018","Vertebrates 100%;  inverts have 5 Asp","Tolerated;  0.18",0.63,"Ex 8 signals improved; ex 9 signals ="]
["Exon 8","rs782671998","X:153648400 ","X:154420061","c.613C>T","p.Leu205Phe","SNP MAF  T=0.0003/1","Not in ClinVar","Mammals 100%; other vert lower %","Tolerated: 0.05",0.999,"Donor score much reduced"]
["Exon 8","rs782162647","X:153648415","X:154420076","c.628C>G","p.Leu210Val","ExAC 1/87758;  1 hemizyg","Not in ClinVar","Vertebrates 100% except 2 reptiles","Tolerated;  0.88",0.998,"Signals normal"]
[]
["Exon 9","rs140751478","X:153648561","X:154420222","c.657C>G","p.Asp219Glu","ExAC 1/87732;  1 hemizyg","Not in ClinVar","Vertebrates 100%;  inverts not cons","Tolerated;  0.37",0.995,"Exon 9 acc & donor scores reduced"]
["Exon 9","rs781788918","X:153648571","X:154420232","c.667A>C","p.Asn223His","ExAC  EUR 1/87738; 1 hemizyg","Not in ClinVar","Vertebrates 100%;  inverts 100% except 2","Not tolerated; 0.04",0.956,"Exon 9 acc & donor scores reduced"]
["Exon 9 ","rs375151766","X:153648578","X:154420239","c.674C>T    ","p.Pro225Leu","ExAC 5/87735;  2 hemizyg.   EUR & S Asian","ClinVar Feb 2014. VUS.  Allele ID 198557","Mammals highly conserved","Not tolerated;  0.01","Possibly-damaging:0.918  ","Exon 9 acceptor slight up, donor slight down"]
["Exon 9 ","rs375151766","X:153648578","X:154420239","c.674C>T    ","p.Pro225Leu","Ref.83","ClinVar Feb 2019. VUS.  Allele ID 198557","Mammals highly conserved","Not tolerated;  0.01","Possibly-damaging:0.918  "]
["Exon 9","rs781905229 ","X:153648583","X:154420244","c.679T>C","p.Tyr227His","ExAC  1/87734;  1 hemizyg",null,"Vertebrates & inverts 100%","Tolerated;  0.01",0.942,"Signals slight reduction"]
["Exon 9","rs782498126","X:153648586","X:154420247","c.682T>C","p.Phe228Leu","ExAC  1/87730;  1 hemizyg",null,"Mammals 100.; Other verts different","Tolerated;  0.35",0.025,"Acceptor small reduction;  donor score reduced"]
["Exon 9","rs782655300","X:153648593","X:154420254","c.689G>A","p.Arg230His","ExAC  1/87723;  0 hemizyg",null,"Mammals 100%.  Other verts highly conserved","Not tolerated; 0.08",0.996,"Acceptor small reduction; donor slight reduction"]
["Exon 9","rs782655300","X:153648593","X:154420254","c.689G>A","p.Arg230His","ExAC  1/87723;  0 hemizyg","ClinVar allele ID 649891  Germline 2019"]
[]
["Intron 9","rs782731479","X: 153648992","X: 154420653","c.700-5C>T",null,"EXAC 1/87682, 1 hemizyg.; Ref. 83  ","ClinVar Jan 2015  VUS. Allele ID 224586",null,null,null,"Acceptor reduced 50%"]
[]
["Exon 10","rs372689133 ","X:153649048","X:154420709","c.751C>G"," p.Arg251Gly","Not in EXAC","Only found in SNP","Mammals highly conserved","Tolerated",null,"No major changes"]
["Exon 10","rs782655300 ","X:153649048",154420254,"c.751C>T","p.Arg251Trp"," ExAC  2/87674; 0 hemizyg;  Ref. 83","ClinVar Mar 2014. 2015 VUS. Allele ID 198559","Mammals highly conserved","Not tolerated; 0.06",0.993,"Acceptor reduced; donor ="]
["Exon 10","rs782655300 ","X:153649048",154420254,"c.751C>T","p.Arg251Trp","Ref.83","ClinVar Mar 2018 VUS. Allele ID 198559","Mammals highly conserved","Not tolerated; 0.06",0.993,"Acceptor reduced; donor ="]
["Exon 10","rs782655300 ","X:153649048",154420254,"c.751C>T","p.Arg251Trp","Ref.83","ClinVar Mar 2019 VUS. Allele ID 198559","Mammals highly conserved","Not tolerated; 0.07",1.993,"Acceptor reduced; donor ="]
["Exon 10","rs397515748 ","X:153649049","X:154420710","c.752G>T   ","p.Arg251Leu           {+ TNNT2 VUS]","Ref. 37;  Ref.83 ","ClinVar Jan 2015, VUS. Allele ID 51437  ","Mammals highly conserved","Tolerated;  0.2",0.987,"Acceptor reduced; donor =",null,"TNNT2  VUS  ClinVar Dec 2015  NM_001001430 c.325C>T; NP_001001430 p.His109Tyr; Allele ID 52802; rs397516460.  "]
["Exon 10",null,"X:153649051 - 153649060","X:154420712 - 154420721","c.754_763delCTCCGGGCGG","p.Leu252Argfs*12","Ref. 83 see report","ClinVar 3/30/2017 Allele ID 470627","Classified VUS b/c it is not known if/how the last 41 aas affect TAZ function"]
["Exon 10","rs782653725  ","X:153649055","X:154420716","c.758G>A","p.Arg253Gln","ExAC  1/87659;  0 hemizyg;  Ref. 83","ClinVar Apr 2015   VUS. Allele ID 232152","Vertebrates highly conserved","Not tolerated; 0.04",0.978,"Both signals reduced"]
["Exon 10","rs782653725  ","X:153649055","X:154420716","c.758G>A","p.Arg253Gln","Ref.83","ClinVar  2018a  VUS. Allele ID 232152","Vertebrates highly conserved","Not tolerated; 0.04"]
["Exon 10","rs782653725  ","X:153649055","X:154420716","c.758G>A","p.Arg253Gln","Ref.83","ClinVar  2018b  VUS. Allele ID 232152","Vertebrates highly conserved","Not tolerated; 0.04"]
["Exon 10","rs200909606  ","X:153649058","X:154420719","c.761C>T","p.Ala254Val","ExAC  11/87653;  4 hemizyg;  Ref. 83","CinVar Aug 11, 2017 Allele ID 446585","Mammals highly conserved;  other verts low conserv","Tolerated; 0.23",0.137,"Acc slight increase; donor small reduction"]
["Exon 10  ","rs782498694  ","X:153649060","X:154420721","c.763G>A","p.Glu255Lys"," ExAC  1/87650; 0 hemizyg; Ref. 83","ClinVar Feb 2014. VUS. Allele ID 198560","Mammals 100%; other verts high conserv","Tolerated; 0.5 ",0.98,"Both signals increased"]
["Exon 10  ","rs782498694  ","X:153649060","X:154420721","c.763G>A","p.Glu255Lys","Ref. 83","ClinVar 2015 Allele ID 471415  germline","Mammals 100%; other verts high conserv","Tolerated; 0.5 ",0.98]
["Exon 10  ","rs782498694  ","X:153649060","X:154420721","c.763G>A","p.Glu255Lys","Ref. 83","ClinVar 2019 Allele ID 471415 germline","Mammals 100%; other verts high conserv","Tolerated; 0.5 ",0.98]
[]
["Intron 10","rs782175712","X:153649080","X:154420741","c.777+6T>C","splice region","EXAC  2/87390;  0 hemizyg","ClinVar Apr 2018  allele ID 575373  germline",null,null,null,"Donor 10 score much reduced"]
[]
["Exon 11  ","rs782746355","X:153649243","X:154420904","c.779T>G","p.Val260Gly"," ExAC  3/83087;  0 hemizyg","ClinVar Aug 2013. VUS. Allele ID 198561","Mammals highly conserved; other verts low conserv","All variations tolerated;  0.37",0.026,"Acceptor score reduced 1.489->0.93"]
["Exon 11",null,"X:153649254","X:154420915","c.790A>G  (NM_181313.3(TAZ):c.658A>G)","p.Lys264Glu  (NM_181313.3, p.Lys220Glu)","Ref. 83","ClinVar 2019; VUS, Allele ID 424452","Vertebrates 100% cons;  inverts less cons","Tolerated"]
["Exon 11",null,"X:153649254","X:154420915","c.790A>G  (NM_181313.3(TAZ):c.658A>G)","p.Lys264Glu  (NM_181313.3, p.Lys220Glu)","Ref. 83","ClinVar 2018; VUS, Allele ID 424452","Vertebrates 100% cons;  inverts less cons","Tolerated"]
["Exon 11",null,"X:153649254","X:154420915","c.790A>G  (NM_181313.3(TAZ):c.658A>G)","p.Lys264Glu  (NM_181313.3, p.Lys220Glu)","Ref. 83","ClinVar Sep 2017; VUS, Allele ID 424452","Vertebrates 100% cons;  inverts less cons","Tolerated"]
["Exon 11",null,"X:153649255","X:154420916","c.791A>G  ","p.Lys264Arg  (& p.Gly197Glu )","Ref. 3 #8; Ref. 27 #5; Ref. 67",null,"Vertebrates 100% cons;  inverts less cons","Tolerated"]
["Exon 11","rs994087698","X:153649258","X:154420919","c.794C>T","p.Ala265Val","Ref. 83","ClinVar 7/11/2017; VUS  Allele ID 446586","Vertebrates 108/129; inverts not cons","All tolerated except Trp"]
["Exon 11","not in SNP","X:153649277","X:154420938","c.813A>T     ","p.Gln271His","Ref. 4",null,"Vertebrates highly conserved","Not tolerated; 0.01",0.997,"Acceptor score slight down"]
["Exon 11","rs782523340 ","X:153649314","X:154420975","c.850C>T","p.Leu284Phe","ExAC  1/83518;  1 hemizyg","ClinVar  Dec 2015 VUS. Allele ID 232147 ","Vertebrates 100%","None tolerated; 0.04",0.997,"Acceptor score slight up"]
["Exon 11","rs782226498","X:153649325","X:154420986","c.861C>A","p.His287Gln","ExAC  1/82,151;  0 hemizyg",null,"Mammals highly conserved; other verts not conserved","Tolerated;   0.56",0.002,"Acceptor score  ="]
["Exon 11","rs397515750","X:153649338","X:154420999","c.874A>G","p.Arg292Gly","ExAC  1/79087;  0 hemizyg","ExAC ","mammals highly conserved; other verts not conserved","Not tolerated;  0",0.014,"splice score not affected"]

{"sheet":"3 BENIGN & INTRONIC 2017-06","index":2,"n_rows":181,"n_cols":14,"rows_kept":181,"cut":false,"hidden":false,"merged":[],"flags":["formulas_cached_only"]}
["TABLE 3  BENIGN AND INTRONIC VARIANTS",{"$nulls":8},"2019-August-23"]
[]
["TABLE 1 contains PATHOGENIC and LIKELY PATHOGENIC VARIANTS.   Repeat entries represent unrelated families."]
["TABLES 2 and 3 contain VUS, BENIGN and INTRONIC VARIANTS.  Repeated findings are combined."]
[]
["ClinVar  ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence.   http://www.ncbi.nlm.nih.gov/clinvar/  "]
["ExAC  Exome Aggregation Consortium.  The data set provided on this website spans 60706 unrelated individuals sequenced as part of various disease-specific and population genetic studies.  http://exac.broadinstitute.org"]
["Exome Server:  The goal of the NHLBI GO Exome Sequencing Project (ESP) is to discover novel genes and mechanisms contributing to heart, lung and blood disorders.  http://evs.gs.washington.edu/EVS/"]
["dbSNP  Single Nucleotide Polymorphism database (dbSNP) is a public-domain archive for a broad collection of simple genetic polymorphisms.   http://www.ncbi.nlm.nih.gov/SNP/"]
["MAF :  minor allele frequency"]
["TGP  1000 Genomes Project  A Deep Catalog of Human Genetic Variation.  http://www.1000genomes.org"]
["SIFT prediction is based on the degree of conservation of amino acid residues in sequence alignments derived from closely related sequences.  http://sift.jcvi.org"]
["PolyPhen-2 (Polymorphism Phenotyping v2) is a tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward"]
[null," physical and comparative considerations.  http://genetics.bwh.harvard.edu/pph2/"]
["Conservation:  from tafazzin alignments.  Vertebrates (mammals, birds, reptiles, amphibians, fish); invertebrates (arthropods, non arthropods).  Source:  ILG"]
[]
["BENIGN, LIKELY BENIGN, & INTRONIC  (found in patients and in genome and exome databases):"]
[null,"dbSNP  rs #","Genome Assembly Release 37","Genome Assembly Release 38","cDNA","Predicted protein variation","Where found & population frequency","Pathogenicity, ClinVar","Conservation & other variants","SIFT prediction                    <0.05 deleteriouos (from tolerability table & from CONDEL)","PolyPhen2 prediction  >0.85 deleterious","Splicing prediction by SplicePort","Additional variants in other genes"]
[]
["5'UTR","rs11388353 ","X:153640060-153640061","X:154411724-154411725","c.-119 (or '-121_-119) insert/del T",null,"ExAC 5786/6746 alleles. 3249 homozy, 1111 hemizy","ClinVar Allele ID 348271 benign"]
["5'UTR","rs113130344","X:153640093","X:154411756","c.-88G > C",null,"ExAC 28/6688; 13 hemizyg.  Ref.4; Ref.14.","ClinVar Jun 2016.  Allele ID 352795"]
["5'UTR","rs36033282","X:153640097 ","X:154411760","c.-84C>G",null,"n/a"]
["5'UTR","rs34707549","X:153640102:153640103","X:154411765","c.-79_-78insG",null,"n/a"]
["5'UTR","rs4898379","X:153640107 ","X:154411770","c.-74C>A",null,"ExAC  A=0.000037"]
["5'UTR","rs12845665","X:153640129 ","X:154411792","c.-52C>T",null,"n/a"]
["5'UTR","rs35224300","X:153640129:153640130","X:154411792-154411794","c.-52_-50delCCCinsCC;  or delCCCinsTT",null,"n/a"]
["5'UTR","rs12845666","X:153640130 ","X:154411793","c.-51C>T",null,"n/a"]
["5'UTR","rs781847896","X:153640133 ","X:154411796","c.-48A>C",null,"ExAC  C=0.000013"]
["5'UTR","rs12845669 ","X:153640138","X:154411801","c.-43C>T",null,"ExAC SouthAsian 1/7181;  0 hemizyg"]
["5'UTR  ","rs200432484","X:153640142","X:154411805","c.-39C>T",null,"ExAC 3/7415;  East Asian 3/223;  0 hemizyg"]
["5'UTR","rs782667788","X:153640145 ","X:154411808","c.-36G>C",null,"TGP  MAF C=0.0005/2"]
["5'UTR","rs782537698 ","X:153640146 ","X:154411809","c.-35G>A, C, T",null,"ExAC 1/7832"]
["5'UTR","rs34567955","X:153640159","X:154411822","c.-22delG",null,"dbSNP MAF n/a"]
["5'UTR","rs727504330","X:153640164","X:154411827","c.-17C>T",null,"SNP MAF n/a","ClinVar Mar-2011 Likely benign. Allele ID 178192"]
["5'UTR","rs727504330","X:153640168","X:154411831","c.-13G>A;  c.-13G>C",null,"ExAC  A=0.0000089;  C=0.000017;  G=0.9999"]
["5'UTR  ","rs782614882","X:153640173","X:154411836","c.-8G>C",null,"ExAC  C=0.0000087"]
["5'UTR","rs782183024","X:153640177","X:154411840","c.-4G>A",null,"ExAC  A=0.0000086"]
[]
["Exon 1","rs12845698","X:153640181 ","X:154411844","c.1A>T","p.Met1Leu","n/a   not in ExAC","sequencing error?"]
["Exon 1","rs12833757","X:153640182 ","X:154411845","c.2T>G","p.Met1Arg","n/a   not in ExAC","sequencing error?"]
["Exon 1","rs782329160","X:153640192","X:154411855","c.12C>A","p.His4Gln","ExAC 1/28980 (Afr 1/2816); 0 hemizyg",null,"mammals highly conserved","Tolerated  0.4",0.018,"No splice effect predicted"]
["Exon 1","rs782245384 ","X:153640198","X:154411861","c.18G>T","p.Lys6Asn","ExAC  2/32713;  Eur 2/16079;   0 hemizyg",null,"mammals highly conserved","Tolerated 0.16",0.991,"No splice effect predicted"]
["Exon 1","rs34828643","X:153640197:153640198","X:154411861-154411860","c.17_18insA ","p.Trp7Valfs","n/d   ","not found in ClinVar"]
["Exon 1","rs782387580","X:153640200","X:154411863","c.20G>C","p.Trp7Ser","ExAC  1/33829; east Asian 1/2978;   0 hemizyg",null,"vertebrates 100%","None tolerated  0",0.994,"No splice effect predicted"]
["Exon 1","rs781958696","X:153640201","X:154411864","c.21G>T","p.Trp7Cys","ExAC 1/34030; 0 hemizyg",null,"vertebrates 100%","None tolerated  0",0.996,"No splice effect predicted"]
["Exon 1","rs782099548","X:153640202","X:154411865","c.22C>T","p.Pro8Ser","ExAC 1/34565; 0 hemizyg",null,"vertebrates 100%","Tolerated 0.07",0.996,"No splice effect predicted"]
["Exon 1","rs782316788","X:153640208","X:154411871","c.28C>T","p.Pro10Ser","SNP   MAF n/a",null,"vertebrates 100%","None tolerated  0",0.996,"No splice effect predicted"]
["Exon 1","rs781941217","X:153640209","X:154411872","c.29C>G","p.Pro10Arg","ExAC  G=0.0000083",null,"vertebrates 100%","None tolerated  0"]
["Exon 1","rs782158312","X:153640213","X:154411876","c.33G>C","p.Ala11=","SNP   MAF n/a"]
["Exon 1","rs397515743","X:153640228","X:154411891","c.48C>G   ","p.Thr16=       [+ MYBPC3 VUS]","Ref.83;   ExAC 1 Afr/4863; 1/50156;  0 hemizyg. ","ClinVar July 2010   likely benign.  Allele ID 51430  ",{"$nulls":4},"MYBPC3 NM_000256.3 c.3677G>; p.Arg1226Leu  ClinVar Oct 2013   VUS  Allele ID 51902  rs397516034"]
["Exon 1","rs781846964","X:153640234","X:154411897","c.54C>T","p.Thr18=","SNP    MAF n/a"]
["Exon 1","rs112148852","X:153640242","X:154411905","c.62G>T  ","p.Ser21Ile","SNP  MAF n/a  (2015)","not in ExAC & ClinVar","vertebrates 100%","Not  tolerated  0",0.991,"Improved donor score"]
["Exon 1","rs782123597","X:153640249","X:154411912","c.69C>T","p.Val23=","ExAC 1/54400;  0 hemizyg",{"$nulls":4},"No splice effect predicted"]
["Exon 1","rs782716787","X:153640259","X:154411922","c.79T>C","p.Leu27=","ExAC 1/55076;  0 hemizyg",{"$nulls":4},"No splice effect predicted"]
[]
["Intron 1","rs781836148","X:153640304","X:154411967","c.109+15G>A",null,"ExAC 3/51521; Latino 3/6415;  0 hemizyg","listed as in DNase1L1"]
["Intron 1","rs397515736","X:153640317","X:154411980","c.109+28C>T [p.Pro46Leu in NM_001303465 TAZ var 5]",null,"Ref. 83 ","ClinVar 5/2012 likely benign.  Allele ID 51422"]
["Intron 1","rs62617809","X:153640406","X:154412069","c.110-17 C>T",null,"ExAC 13463/67113;  4540 homozyg, 1127 hemizyg","ClinVar Mar 2011.  benign. Allele ID 45455",null,null,null,"mRNA study: no effect on splicing"]
["Intron 1","rs782099193 ","X:153640417 ","X:154412080","c.110-6C>G",null,"ExAC 1/67631;  1 hemizyg",{"$nulls":4},"No significant effect"]
["Intron 1","rs782099193 ","X:153640417 ","X:154412080","c.110-6C>T",null,"ExAC 1/67,361; 0 hemizy",{"$nulls":4},"No significant effect"]
["Intron 1","rs781935358","X:153640418 ","X:154412081","c.110-5G>T",null,"ExAC 1/67434;  0 hemizyg",{"$nulls":4},"Increased acceptor score"]
[]
["Exon 2","rs368329470","X:153640436","X:154412099","c.123C>T","p.His41=","ExAC 3/66512;  1 hemizyg",{"$nulls":4},"No splice effect predicted"]
["Exon 2","rs781869867","X:153640460","X:154412123","c.147G>A","p.Val49=","ExAC 1/61925;  1 hemizyg",{"$nulls":4},"No splice effect predicted"]
["Exon 2","rs782470471 ","X:153640511","X:154412174","c.198G>A","p.Val66=","ExAC 1/44752;  0 hemizyg",{"$nulls":4},"No significant effect"]
["Exon 2",null,"X:153640529","X:154412192","c.216C>T","p.Cys72=","not in ExAC","ClinVar Feb 16, 2018 Allele ID 515227   germline"]
["Exon 2","rs782223969","X:153640544","X:154412207","c.231T>C","p.His77=","ExAC 1/37867;  0 hemizyg",{"$nulls":4},"No significant effect"]
[]
["Intron 2","rs781786197 ","X:153640557","X:154412220","c.238+6C>T",null,"ExAC 1/35235; 0 hemizyg",{"$nulls":4},"Increased donor score"]
["Intron 2","rs199809512","X:153641517","X:154413180","c.239-26G>A",null,"ExAC 30/85853;  2 hemizyg. "]
[]
["Exon 3","rs782364420","X:153641545","X:154413208","c.240G>A","p.Gly80=","ExAC 1/86083;  1 hemizyg","Not in ClinVar",null,null,null,"Splice minimal change"]
["Exon 3","rs782402941","X:153641572","X:154413235","c.267C>T","p.Asn89=","ExAC 4/85480;  1 hemizyg",{"$nulls":4},"SplicePort acceptor score reduced; donor site lost"]
["Exon 3","rs781986219 ","X:153641575","X:154413238","c.270G>A","p.Leu90=","ExAC 4/85284;  0 hemizyg",{"$nulls":4},"SplicePort acceptor reduced; donor reduced"]
[]
["Intron 3","rs41313420","X:153641619","X:154413282","c.284+30C>T",null,"ExAC 429/71166;  1 homozyg, 154 hemizyg;  Ref.4: 2 cases"]
[]
["Exon 4","rs143525004","X:153641855","X:154413518","c.321G>A","p.Glu107=","NHLBI Exome AA  1/3834;  EA  0;  ",{"$nulls":4},"SplicePort:  no significant changes"]
["Exon 4   ","rs200405157 ","X:153641865","X:154413528","c.331C>T ","p.His111Tyr  [+ MYH7 path/VUS in a patient]","Ref.37; Ref. 83;   ExAC   EUR  4/47683  All popul: 4/87310 ","ClinVar Nov 2013. Likely benign. Allele ID 176911","vertebrates low conservation ","All variants tolerated; 1","benign  0.209","Acceptor improved; donor slight increase","MYH7 NM_000257 c.1106G>A; p.Arg369Gln. ClinVar Oct 2014  likely path/ VUS Allele ID 175646  rs397516089"]
["Exon 4","rs782564325","X:153641885","X:154413548","c.351G>A","p.Lys117=","ExAC 1/87058;  1 hemizyg",{"$nulls":4},"SplicePort acceptor reduced; donor already high score increased"]
[]
["Intron 4","rs181382694","X:153642166","X:154413829","c.370+262A>C",null,"Ref. 4"]
["Intron 4","not in snp","X:153642236","X:154413899","c.370+332G>A  = c.371-202",null,"Ref. 4   freq = 0.4% "]
["Intron 4","rs5986977","X:153642297","X:154413960","c.371-141G>A",null,"Ref. 4 "]
[]
["c",null,null,"X:154413944-154414116  MIR repetitive DNA 173 bp"]
["Exon 5    ","rs782404246  ","X:153642438 ","X:154414101","c.371G>A","p.Gly124Glu","ExAC  A=0.0000164",{"$nulls":4},"Significantly reduced acceptor score"]
["Exon 5    ","rs146934311","X:153642450","X:154414113","c.383T>C","p.Phe128Ser","ExAC 521/78,935 =  6.6%;  98 hemizyg, 9 homozyg.  Ref.42; Ref.48; Ref.83  ","ClinVar benign 2015.  Allele ID 51429","only in higher primates","All variation tolerated;  0.73",0.01,"SplicePort  lousy acceptor improved; donor slight reduction"]
["Exon 5","not in snp","X:153642472","X:154414135","c.405A>G","p.Lys135=","Ref. 4",{"$nulls":4},"SplicePort: ex5 poor acceptor is worse;  donor reduced"]
["Exon 5","rs782240044","X:153642474","X:154414137","c.407G>T","p.Gly136Val","ExAC 1/80705;  0 hemizyg",null,"100% conserved in primates","Tolerated   0.13",0.867,"Poor acceptor score reduced; donor some reduction"]
["Exon 5","rs782401618","X:153642504","X:154414167","c.437G>T","p.Gly146Val","ExAC 1/77810;  0 hemizyg",null,"100% in primates except Callicebus","Tolerated;  0.09",0.05,"Acceptor minimal improvement;  donor noted reduction"]
["Exon 5","rs781958108 ","X:153642509","X:154414172","c.442G>A","p.Gly148Arg","ExAC 1/76588;  0 hemizyg",null,"100% primates but missing in Saimiri","All tolerated;  0.03",0,"Both acceptor and donor scores much reduced"]
["Exon 5","rs782103839","X:153642523","X:154414186","c.456G>C","p.Glu152Asp","ExAC 1/73322;  0 hemizyg",null,"100% primates but missing in Saimiri & Callithrix","All tolerated;  0.006",0.006,"Low acceptor score same;  donor improved"]
[]
["Intron 5","rs370847003","X:153645605 ","X:154417266","c.461-2,277G > C",null,"Ref. 26"]
["Intron 5",null,"X:153645713","X:154417374","c.461-2,169G > T",null,"Ref. 26"]
["Intron 5","rs138096034","X:153645842","X:154417503","c.461-2,040A > C",null,"Ref. 26 "]
["Intron 5","rs188840482 ","X:153646292","X:154417953","c.461-1,590A > G",null,"Ref. 26"]
["Intron 5","not in SNP","X:153647141 ","X:154418803","c.461-740G > A",null,"Ref. 26"]
["Intron 5","rs112760522","X:153647836","X:154419497","c.461-46C > T",null,"ExAC 378/86209; Ref.4; Ref. 26"]
["Intron 5","rs377500295","X:153647875","X:154419536","c.461-7C>T",null,"ExAC 1/87348"]
[]
["Exon 6","rs782173851 ","X:153647890 ","X:154419551","c.469G>A","p.Val157Ile","Not in ExAC & ClinVar",null,"100 % cons vertebrates & inverts","tolerated",null,"No significant scores change"]
["Exon 6","rs782791051   ","X:153647901","X:154419562","c.480G>A","p.Lys160=","ExAC  A=0.0000082",{"$nulls":4},"No significant scores change"]
["Exon 6","not in SNP","X:153647925","X:154419586","c.504G>A","p.Lys168=","Not in ExAC","ClinVar June 2016.   Allele ID 352158 ",null,null,null,"No significant scores change"]
["Exon 6","rs782644330 ","X:153647931","X:154419592","c.510C>T","p.Asn170=","ExAC 8/87675; 2 hemizyg",{"$nulls":4},"SplicePort acceptor about =; donor reduced"]
["Exon 6","rs782218877","X:153647955","X:154419616","c.534C>T","p.Phe178=","ExAC 1/87656;  0 hemizyg",{"$nulls":4},"SplicePort signals slight reduction"]
[]
["Intron 6","rs782486640 ","X:153647970","X:154419631","c.541+8G>A","intron splice region","ExAC 1/87619;  1 hemizyg",{"$nulls":4},"Scores not changed"]
["Intron 6 ","rs373841640","X:153648024","X:154419685","c.542-20C>T","intron splice region","ExAC 38/87563;  Ref.83 ","ClinVar Apr 2013. Benign. Allele ID 143091"]
["Intron 6","rs782479968   ","X:153648025","X:154419686","c.542-19C>G",null,"ExAC  G=0.0000164"]
["Intron 6","rs782754202  ","X:153648028 ","X:154419689","c.542-16T>C",null,"ExAC  C=0.0000164"]
["Intron 6","rs781795144","X:153648041","X:154419702","c.542-3C>T","intron splice region","ExAC 1/87499",{"$nulls":4},"Score for acceptor 7 reduced"]
[]
["Exon 7","rs782471244 ","X:153648045","X:154419706","c.543G>A","p.Gly181= & splice region","ExAC 11/87490; 1 hemizyg",{"$nulls":4},"SplicePort both signals increased"]
["Exon 7","rs36005334","X:153648063","X:154419724","c.561 C>T   ","p.Ser187=","SNP 74C/2T homozyygote",{"$nulls":4},"SplicePort acceptor small reduction;  donor abolished"]
["Exon 7","rs141773967","X:153648069","X:154419730","c.567C>T     ","p.Phe189=","ExAC 4/87304 (4 Afr in 8429; 1 hemizyg)",{"$nulls":4},"SplicePort acceptor reduced; donor low score reduced further"]
[]
["Intron 7","rs782504208","X:153648091","X:154419752","c.583+6G>T","intron splice region","ExAC 1/86986; 0 hemizyg",{"$nulls":4},"Scores for acceptor & donor 7 are significantly increased"]
["Intron 7","rs370536414","X:153648095","X:154419756","c.583+10G>A",null,"ExAC Eur 2/47552;  0 hemizyg","ClinVar Jan 2010. Likely benign. Allele ID 51432 ",null,null,null,"SplicePort donor ex7 reduced 0.1 to 0.06; "]
["Intron 7","not in SNP","X:153648109","X:154419770","c.583+24A > T",null,"Ref. 4  freq = 0.4%. ExAC 2/86656;  2 hemi"]
["Intron 7","rs781795756 ","X:153648110","X:154419771","c.583+25C>T",null,"SNP-TGP  freq T=0.0003/1"]
["Intron 7","rs73571581","X:153648233 ","X:154419894","c.583+148G > A (c.584-138)",null,"Ref.4  freq = 2.8%;  TGP 4.3%; Ref.26  4/52"]
["Intron 7","rs782192927","X: 153648364","X: 154420025","c.584-7delT",null,"Ref. 83","ClinVar Nov 2, 2015, Allele ID 222884  Likely benign"]
[]
["Exon 8","rs782339790 ","X:153648375","X:154420036","c.588C>T","p.Ile196=","ExAC 1/87757;  0 hemizyg",{"$nulls":4},"SplicePort acceptor reducd;  low donor much reduced"]
["Exon 8","rs150583937","X:153648378","X:154420039","c.591G>T    ","p.Gly197=","ExAC 1/87,759;  0 hemizyg",{"$nulls":4},"SplicePort acc slight reduction; donor increased"]
["Exon 8","rs150583937","X:153648378","X:154420039","c.591G>A  ","p.Gly197=","ExAC 1/87,759;  1 hemizyg",{"$nulls":4},"exon 8 donor score significantly increased"]
["Exon 8","rs1057523172","X:153648381","X:154420042","c.594C>A","p.Arg198=",null,"ClinVar Aug 2016.  Allele ID 378004",null,null,null,"exon 8 donor score significantly increased"]
["Exon 8","rs587781186 ","X:153648421","X:154420082","c.634C>T","p.Leu212=","Ref.83; SNP MAF n/a","ClinVar July 2011. Benign.  Allele ID 143092",null,null,null,"SplicePort donor score much reduced"]
["Exon 8","rs374146054","X:153648432","X:154420093","c.645C>T    ","p.Val215=","NHLBI Exome EA 1/6727  AA 0   zygosity?",{"$nulls":4},"SplicePort  acceptor imcreased; donor negative reduced 0.159 to -0.037"]
[]
["Intron 8","rs782779700 ","X:153648441","X:154420102","c.646+8T>C","splice region","ExAC 1/87750; 1 hemizyg  Afr",{"$nulls":4},"donor 8 score signif reduced"]
["Intron 8","rs191527230","X:153648447","X:154420108","c.646+14C>T",null,"Ref. 83;  ExAC 74/87745; 17 hemizyg.","ClinVar Feb 2014. Benign. Allele ID 143093",null,null,null,"SplicePort both signals small reduction"]
["Intron 8","rs73638278","X:153648509","X:154420170","c.647-42C >T (=c.646+76)",null,"ExAC most Afr 252/87731;  53 hemi, 2 homo  Ref. 4 freq 1%;  Ref. 26 "]
["intron 8","rs200674881","X:153648522","X:154420183","c.647-29C>T",null,"ExAC 40/87729; 12 hemizyg"]
[]
["Exon 9","rs140751478","X:153648561","X:154420222","c.657C>T   ","p.Asp.219=","Ref. 83;  ExAC 6/87732; 1 hemizyg","ClinVar Mar 2008. Likely benign. Allele ID 178190  ",null,null,null,"SplicePort both signals slight reduction"]
["Exon 9","rs372610945","X:153648564","X:154420225","c.660C>T   ","p.Val220=","ExAC 6/87732; 1 hemizyg","ClinVar Jul 2016.  Allele ID404500",null,null,null,"SplicePort all signals normal"]
["Exon 9 ","rs201046790","X:153648579","X:154420240","c.675G>A","p.Pro225=","ExAC  78/87734; 50 hemizyg.   TGP A=0.0005/2","ClinVar Jun2016  Allele ID 352159  likely benign ",null,null,null,"SplicePort both signals increeased"]
["Exon 9","rs781816017  ","X:153648594","X:154420255","c.690C>A","p.Arg230=","ExAC  1/87724;  1 hemizyg ",{"$nulls":4},"SplicePort  acceptor increased; donor reduced"]
["Exon 9","rs782491717 ","X:153648600 ","X:154420261","c.696A>G","p.Gly232=","ExAC  G=0.0000164",{"$nulls":4},"donor 9 score much reduced"]
[]
["Intron 9","rs781987702","X:153648613","X:154420274","c.699+10G>A","splice region","ExAC 1/87699"]
["Intron 9","rs782137770","X:153648620","X:154420281","c.699+17G>A","splice region","ExAC 1/87689"]
["Intron 9","rs782411951 ","X:153648622","X:154420283","c.699+19C>T","splice region","ExAC 1/87686"]
["Intron 9","rs369956751","X:153648626","X:154420287","c.699+23C>T","splice region","ESP T=1/C=10562;  ExAC 2/87676"]
["Intron 9","rs782251890","X:153648627","X:154420288","c.699+24G>A","splice region","ExAC: 1/87683"]
["Intron 9","rs782390449 ","X:153648628","X:154420289","c.699+25G>C","splice region","ExAC: 1/87671"]
["Intron 9","rs200164202","X:153648950","X:154420611","c.700-47G>A","splice region","ESP A=13/G=10550;  ExAC 26/87507"]
["Intron 9","rs781995935","X:153648974 ","X:154420635","c.700-23C>A","splice region","MAF ?"]
["Intron 9","rs782074602 ","X:153648983","X:154420644","c.700-14C>T","splice region","MAF ?"]
["Intron 9","rs782731479","X:153648992","X:154420653","c.700-5C>T","splice region","ExAC 1/87682"]
[]
["Exon 10","not in SNP, ExAC, ClinVar","X:153649012","X:154420673","c.715A>G [Numbering in abstract was for ∆5∆7]","p.Ile239Val [+ TTN VUS;  + MYH7 path var column M & N]","REF. 91 Xiang 2016 article",null,"Mammals 100% cons;  other verts: Val is 50%","SIFT:  tolerated",null,"No splice effect predicted","TTN NM_133378 c.604 A>G; p.Lys202Glu, VUS Not in ClinVar or SNP","MYH7 NM_000257 c.730 T>C; p.Phe244Leu.  ClinVar Aug 2013, Allele ID 179684 Pathogenic rs730880849"]
["Exon 10","rs781794488 ","X:153649014","X:154420675","c.717C>T","p.Ile239=","ExAC  1/87719;  0 hemizyg",{"$nulls":4},"SplicePort  both signals reduced"]
["Exon 10","rs376379156","X:153649044","X:154420705","c.747C>G","p.Leu249=","ExAC  11/87692; 5 hemizyg",{"$nulls":4},"SplicePort both signals increased"]
["Exon 10 ","rs376379156","X:153649044","X:154420705","c.747C>T","p.Leu249=","ExAC  5/876921; 2 hemizyg;  ",{"$nulls":4},"SplicePort  acc reduced 25%; donor score reduced 50%"]
["Exon 10","rs368990588","X:153649068","X:154420729","c.771G>A","p.Lys257=","ExAC  1/87594;  0 hemizyg",{"$nulls":4},"SplicePort  acc small reduction;  donor ="]
["Exon 10","rs782273950","X:153649071","X:154420732","c.774G>A","p.Ser258=","ExAC  2/87562;  1 hemizyg",{"$nulls":4},"SplicePort  both signals a bit increased"]
[]
["Intron 10","rs782175712 ","X:X:153649080","X:154420757","c.777+6T>C","splice region","ExAC  C=0.00001647",{"$nulls":4},"Score f donor 10 drastically reduced"]
["Intron 10","rs781980174  ","X:153649096 ","X:154420757","c.777+22C>A","splice region","ExAC 1/86961"]
["Intron 10","rs372488219","X:153649097 ","X:154420758","c.777+23C>T",null,"ExAC 2/86909"]
["Intron 10","rs781949737","X:153649186 ","X:154420847","c.778-56G>A",null,"MAF TGP A=0.0003/1"]
["Intron 10","rs375743043","X:153649206 ","X:154420867","c.778-36C>T",null,"MAF n/a"]
["Intron 10","rs781874054","X:153649211","X:154420872","c.778-31G>A",null,"MAF n/a"]
["Intron 10","rs782476182 ","X:153649212","X:154420873","c.778-30G>A",null,"MAF n/a"]
["Intron 10","not in SNP","X:153649235","X:154420896","c.778-7C>G",null,"Not in ExAC or ClinVar"]
[]
["Exon 11","not in SNP","X:153649254","X:154420915","c.791A>G     ","p.Lys264Arg. & TAZ exon 8  p.Gly197Glu pathogenic","Ref. 4",null,"mammals 100% cons","Tolerated;  0.07",0.696,"Acceptor score increased"]
["Exon 11","rs781792950","X:153649265","X:154420926","c.801G>A","p.Thr267=","ExAC  1/84476;  1 hemizyg",{"$nulls":4},"SplicePort acceptor almost ="]
["Exon 11","rs782525982  ","X:153649271 ","X:154420932","c.807C>A","p.Phe269Leu","ExAC 1/84794",null,"vertebrates 100 % cons","All variants tolerated",null,"Acceptor 11score  decreased"]
["Exon 11","rs782686968 ","X:153649280","X:154420941","c.816G>A","p.Glu272=","ExAC  1/84956;  0 hemizyg",{"$nulls":4},"SplicePort acceptor increased"]
["Exon 11","rs782240231","X:153649310","X:154420971","c.846G>A","p.Glu282=","ExAC  2/83848;  1 hemizyg",{"$nulls":4},"SplicePort  acceptor slight decrease"]
["Exon 11","rs782595182 ","X:153649319 ","X:154420980","c.855C>T","p.His285=","ExAC  T=0.0000164",{"$nulls":4},"Splice scores not affected"]
["Exon 11","rs35902788","X:153649337","X:154420998","c.873G>A","p.Gly291=","ExAC  324/79416;  112 hemizyg.  Ref.4;  Ref. 83 ","ClinVar Mar 2012. Benign. Allele ID 51440.  Reported by multiple labs ",null,"same codon as rodent",null,"Acceptor score ="]
["Exon 11","rs397515750","X:153649338","X:154420999","c.874A>G","p.Arg292Gly","ExAC  1/79087;  0 hemizyg",null,"mammals highly conserved; other verts not conserved","Not tolerated;  0",0.014,"Splice score not affected"]
[]
["3'UTR","rs370478053","X:153649368","X:154421029","25 b after Term   C>A",null,"ExAC 1/66337;  1 hemi.  "]
["3'UTR","rs743547","X:153659814","X:154421474","471 b after Term   C>G",null,"Freq:  8.6 %"]

{"sheet":"exon 5 compiled","index":3,"n_rows":21,"n_cols":14,"rows_kept":21,"cut":false,"hidden":false,"merged":[],"flags":["formulas_cached_only"]}
["2019-August-23"]
[]
[null,"dbSNP  rs #","Genome Assembly Release 37","Genome Assembly Release 38","cDNA","Predicted protein variation","Where found & population frequency","ClinVar","Conservation","SIFT prediction                    <0.05 deleteriouos (from tolerability table & from CONDEL)","PolyPhen2 prediction  >0.85 deleterious","SplicePort prediction","Acyltransfer-ase motif","Additional variant in another gene"]
[]
["VUS SECTION"]
["Exon 5","not in SNP","X:153642485","X:154414148_52","c.418_422del ACAGGinsA","p.Arg142ThrfsX41","ExAC 1/79840;  1 hemizyg  LOW CONFIDENCE","Not in ClinVar.  rs782253789"]
["Exon 5","rs727503454","X:153642486","X:154414149","c.419C>T","p.Thr140Ile","Ref. 83;  not in ExAC","ClinVar Jan  2014. VUS.  Allele ID 176913 ","Not all primates","Tolerated;  0.36",0,"Acceptor much reduced; donor small reduction"]
["Exon 5","rs782253789","X:153642492_95  ","X:154414155_58","c.425_428delGGCA  or  c.419_422delCAGG","p.Arg142ThrfsX41","not in ExAC   Ref. 83","ClinVar Feb 24, 2017. Likely path. Var ID 423852","Should only manifest in FL variant"]
[]
[]
["BENIGN SECTION"]
[]
[]
["Exon 5    ",null,null,"X:154413944-154414116  MIR repetitive DNA 173 bp"]
["Exon 5    ","rs782404246  ","X:153642438 ","X:154414101","c.371G>A","p.Gly124Glu","ExAC  A=0.0000164",{"$nulls":4},"Significantly reduced acceptor score"]
["Exon 5    ","rs146934311","X:153642450","X:154414113","c.383T>C","p.Phe128Ser","ExAC 521/78,935 =  6.6%;  98 hemizyg, 9 homozyg.  ","ClinVar benign 2015.  Allele ID 51429","would only affect higher primates","All variation tolerated;  0.73",0.01,"SplicePort:  lousy acceptor improved; donor slight reduction"]
["Exon 5","not in snp","X:153642472","X:154414135","c.405A>G","p.Lys135=","Ref. 4",{"$nulls":4},"SplicePort: ex5 poor acceptor is worse;  donor reduced"]
["Exon 5","rs782240044","X:153642474","X:154414137","c.407G>T","p.Gly136Val","ExAC 1/80705;  0 hemizyg",null,"100% conserved in primates","Tolerated   0.13",0.867,"Poor acceptor score reduced; donor some reduction"]
["Exon 5","rs782401618","X:153642504","X:154414167","c.437G>T","p.Gly146Val","ExAC 1/77810;  0 hemizyg",null,"100% in primates except Callicebus","Tolerated;  0.09",0.05,"Acceptor minimal improvement;  donor noted reduction"]
["Exon 5","rs781958108 ","X:153642509","X:154414172","c.442G>A","p.Gly148Arg","ExAC 1/76588;  0 hemizyg",null,"100% primates but missing in Saimiri","All tolerated;  0.03",0,"Both acceptor and donor scores much reduced"]
["Exon 5","rs782103839","X:153642523","X:154414186","c.456G>C","p.Glu152Asp","ExAC 1/73322;  0 hemizyg",null,"100% primates but missing in Saimiri & Callithrix","All tolerated;  0.006",0.006,"Low acceptor score same;  donor improved"]

{"sheet":"COSMIC","index":4,"n_rows":148,"n_cols":11,"rows_kept":148,"cut":false,"hidden":false,"merged":[],"flags":["formulas_cached_only"]}
["COSMIC: ","CATALOGUE OF SOMATIC MUTATIONS IN CANCER -- http://cancer.sanger.ac.uk/cosmic",{"$nulls":7},"2019-August-23"]
[]
["COSMIC","mutations","confirmed somatic",null,null,"BTHS DATABASE"]
[{"$nulls":5},"hotspot"]
["exon","cDNA","protein",{"$nulls":4},"CpG ?","Seen by"]
[]
[1,"c.18G>A","Lys6=","COSM4732255",null,"Lys6Asn",null,"n","EXAC","ExAC  2/32713;  Eur 2/16079;   0 hemizyg."]
[]
[1,"c.21G>T","Trp7Cys","COSM5742498",null,"Trp7Cys","Trp7Ser","n","EXAC, SNP","ExAC 1/34030; 0 hemizyg"]
[{"$nulls":5},"Trp7Valfs*"]
[]
[1,"c.48C>T","Thr16=","COSM3694446",null,"Thr16=",null,"n","a lab","ClinVar July 2010   likely benign.  Allele ID 51430  "]
[]
[1,"c.65G>A","Ser22Asn","COSM4108122",null,null,null,"y"]
[]
[1,"c.67G>A","Val23 Ile","COSM6044432",null,"Val23=",null,"y","ExAC"]
[]
[1,"c.96C>A ","Ser32Arg","COSM5657566",null,null,null,"n"]
[]
[1,"c.106A>G","Thr36Ala","COSM5029653",null,null,null,"n"]
[]
[1,"c.108C>T","Thr36=","COSM6797082",null,null,null,"n"]
[]
[null,"c.109A>G","Lys37Glu","COSS2746099"]
[]
[null,"c.117G>T","Met39Ile","COSM7161808"]
[]
[2,"c.122A>T","His41Leu","COSM3973461",null,"His41=",null,"n","ExAC;  a lab"]
[]
[2,"c.141G>A","Arg47=","COSM3559752",null,null,null,"n"]
[]
[2,"c.154G>A","Glu52Lys ","COSM5646111",null,"Glu52*",null,"y","a lab","GeneDx 2015   ClinVar May 2013. Pathogenic.  Allele ID 198552","several unrelated"]
[]
[2,"c.162C>T","Ile54=","COSM1118011",null,"Ile 54Asn",null,"n","a lab","2 sibs - 1 deceased"]
[]
[2,"c.170G>A","Arg57Gln","COSM1315357",null,"Arg57Leu",null,"y","a lab","s"]
[]
[2,"c.172G>A","Gly58Ser","COSM6797078",null,"Gly58Alafs*25",null,"y","a lab","de novo fr g'father"]
[]
[2,"c.199T>C","Ser67Pro ","COSM5656289",null,null,null,"n"]
[]
[2,"c.223G>T","Asp75Tyr","COSM6252756",null,"Asp75His","p.Asp75Asn","y","labs","I fam de novo; 1 fam 3 affected"]
[]
[2,"c.232C>A","Leu78Ile","COSM1118013",null,"--",null,"n"]
[]
[3,"c.253C>T","Arg85Cys","COSM4481760",null,"Arg85Cys","p.Arg85His","y","EXAC","ExAC: 2/85980; 0 hemizyg.  "]
[{"$nulls":5},"Arg85Profs*54",null,null,"lab","1 male & 1 female sib"]
[]
[3,"c.256C>A","His86Asn","COSM1580273",null,"--",null,"n"]
[]
[3,"c.282T>C","Arg94 =","COSM315799  ",null,"Arg94Cys (9x) ","Arg94His (9x)","y","multiple labs","at least 6 unrelated are de novo"]
[{"$nulls":5},"Arg94Ser (2x)","Arg94Gly (2x)"]
[{"$nulls":5},"Arg94Leu 1x)"]
[4,"c.289C>A","Pro97Thr","COSM6118057",null,null,null,"n"]
[]
[4,"c.316A>T","Lys106*","COSM5906601",null,null,null,"n"]
[]
[4,"c.317A>G","Lys106Arg","COSM6576621",null,null,null,"n"]
[]
[4,"c.368G>T","Arg123Leu","COSM356608",null,"Arg123* (6x)",null,"y","multiple labs","6 unrelated families"]
[]
[5,"c.379T>C","Phe127Leu","COSM5494318",null,null,null,"n"]
[]
[5,"c.384C>T","Phe128=","COSM6565484",null,"Phe128Ser (>100x)",null,"n","multiple labs","frequent variant"]
[]
[5,"c.396T>C","Asn132=","COSM5351649",null,null,null,"n"]
[]
[5,"c.397G>A","Glu133Lys","COSM5540126",null,null,null,"n"]
[]
[5,"c.403A>G","Lys135Glu ","COSM1228538",null,"Lys135=",null,"n","MDL"]
[]
[5,"c.412C>G","Leu138Val","COSM4769941",null,null,null,"n"]
[]
[5,"c.452G>A","Arg151Lys","COSM1490689"]
[]
[6,"c.469G>A","Val157 Ile","COSM5742500",null,"Val157Ile",null,"y","SNP"]
[]
[null,"c.521G>C","Trp174Ser","COSM6840412"]
[]
[6,"c.529A>G","Ile177Val","COSM1194330",null,null,null,"n"]
[]
[7,"c.551A>G","Asn184Ser","COSM1118016 ",null,null,null,"n"]
[]
[7,"c.560C>T","Ser187Phe","COSM756818",null,"Ser187=",null,"n","SNP","SNP 74C/2T homozyygote"]
[]
[7,"c.562G>T","Glu188Lys","COSM1118017 ",null,"Glu188Lys (EXAC)","Glu188*  (lab)  ","y","EXAC & lab","large pedigree w 4 died"]
[]
[null,"c.604G>A","Glu202Lys","COSM7100169"]
[]
[7,"c.621C>A","Pro207=","COSM6797081",null,null,null,"n"]
[]
[8,"c.629T>C ","Leu210Pro","COSM1118018 ",null,"Leu210Val (EXAC)","Leu210Arg (lab)","y?","EXAC & lab"," de novo fr mother"]
[]
[8,"c.633C>A","Pro211=","COSM3673365",null,null,null,"n"]
[]
[8,"c.637T>C","Trp213Arg","COSM6118056",null,null,null,"n"]
[]
[8,"c.645C>T","Val215=","COSM3034256",null,"Val215=",null,"y","EXAC)","NHLBI Exome EA 1/6727  AA 0   zygosity?"]
[]
[9,"ATG>ATA","Met217Ile","COSM1315359 ",null,"--",null,"n"]
[]
[9,"c.657C>T","Asp219=","COSM1466815",null,"Asp219Glu (EXAC)","Asp.219= (EXAC & lab)","y","EXAC & lab"]
[{"$nulls":5},"Asp219Glufs*1(lab)"]
[]
[9,"c.661C>T","Leu221Phe","COSM3034258",null,"Leu221Argfs*4 ",null,"n","a lab","de novo (mother mosaic? >2 boys)"]
[]
[9,"c.673C>G","Pro225Ala","COSM3964957",null,null,null,"y"]
[]
[9,"c.674C>T","Pro225Leu","COSM3034259",null,"Pro225Leu","ClinVar Feb 2014. VUS.  Allele ID 198557","y","EXAC & lab","ExAC 5/87735;  2 hemizyg.   EUR & S Asian"]
[]
[9,"c.675G>A","Pro225=","COSM6797080",null,"Pro225=",null,"y","EXAC & lab"]
[]
[9,"c.678C>A","Pro226=","COSM1288351",null,null,null,"n"]
[]
[9,"c.683T>C","Phe228Ser","COSM3681689",null,"Phe228Leu",null,"n","EXAC","ExAC  1/87730;  1 hemizyg"]
[]
[9,"c.685C>T","Pro229Ser","COSM3034260",null,"Pro229Leufs*79",null,"n","a lab","familial"]
[]
[null,"c.714G>C","Leu238=","COSM7100171"]
[]
[10,"c.718G>A","Gly240Arg","COSM5877445",null,"Gly240Arg",null,"y","labs","9 families"]
[]
[10,"c.725C>T","Pro242Leu","COSM3559755",null,"Pro242_Glu250del (in frame)",null,"n","a lab","de novo fr mother"]
[]
[10,"c.747C>A","Leu249=","COSM3694448",null,"Leu249=",null,"y","EXAC & lab","ExAC  11/87692; 5 hemizyg"]
[]
[null,"c.745C>T","Leu249Phe","COSM5455857"]
[]
[10,"c.751C>G","Arg251Gly","COSM488165",null,".Arg251Gly","p.Arg251Trp","y","EXAC & lab"]
[]
[10,"c.752G>A","Arg251Gln","COSM1715861",null,null,null,"y"]
[]
[10,"c.771G>T","Lys257Asn","COSM1138109",null,"Lys257=",null,"n","EXAC","ExAC  1/87594;  0 hemizyg  "]
[]
[10,"c.773C>T","Ser258Leu ","COSM3694449",null,"Ser258=","Ser258*","y","EXAC & labs","ExAC  2/87562;  1 hemizyg;  2 unrelated families"]
[]
[11,"c.783G>C","Glu261Asp","COSM5788744",null,null,null,"n"]
[]
[11,"c.788G>A","Arg263Gln","COSM6527453",null,null,null,"y"]
[]
[11,"c.799A>G","Thr267Ala ","COSM1466816",null,"Thr267= EXAC & lab)","Thr267Lys (lab)","y","EXAC & labs","unrelated families"]
[{"$nulls":5},"Thr267Argfs*6 (lab)",null,null,null," de novo fr mother"]
[]
[11,"c.811C>T","Gln271*","COSM1715862 ",null,"Gln271His","VUS","n","MDL"]
[]
[11,"c.827A>C","His276Pro","COSM4970732",null,null,null,"n"]
[]
[11,"c.855C>T","His285=","COSM7332821","s"]