### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CELF2)
# charset = UTF-8

## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{name}}"	"{{chromosome}}"	"{{chrom_band}}"	"{{imprinting}}"	"{{refseq_genomic}}"	"{{refseq_UD}}"	"{{reference}}"	"{{url_homepage}}"	"{{url_external}}"	"{{allow_download}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{show_orphanet}}"	"{{note_index}}"	"{{note_listing}}"	"{{refseq}}"	"{{refseq_url}}"	"{{disclaimer}}"	"{{disclaimer_text}}"	"{{header}}"	"{{header_align}}"	"{{footer}}"	"{{footer_align}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{updated_by}}"	"{{updated_date}}"
"CELF2"	"CUGBP, Elav-like family member 2"	"10"	"p13"	"unknown"	"NC_000010.10"	"UD_132319291099"	""	"https://www.LOVD.nl/CELF2"	""	"1"	"2550"	"10659"	"602538"	"1"	"1"	"1"	"1"	"MANE select NM_001326342.2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2022-04-07 09:24:45"	"00000"	"2026-01-20 18:57:21"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00004944"	"CELF2"	"transcript variant 1"	"004"	"NM_001025076.2"	""	"NP_001020247.1"	""	""	""	"-307"	"7737"	"1473"	"11206993"	"11378674"	""	"0000-00-00 00:00:00"	""	""
"00025563"	"CELF2"	"transcript variant 3"	"004"	"NM_001025077.2"	""	"NP_001020248.1"	""	""	""	"-92"	"9149"	"1527"	"11047259"	"11378674"	"00006"	"2020-10-19 13:47:48"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"06905"	"DEE97"	"encephalopathy, developmental and epileptic, type 97"	"AD"	"619561"	""	""	""	"00006"	"2022-04-07 09:18:03"	""	""
"06906"	"DEE"	"encephalopathy, developmental and epileptic"	""	""	""	""	""	"00006"	"2022-04-07 09:24:23"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"CELF2"	"06905"
"CELF2"	"06906"


## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00301343"	""	""	""	"1"	""	"03677"	"{PMID:Itai 2021:33131106}, {DOI:Itai 2021:10.1002/humu.24130}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"China"	""	"0"	""	""	""	"Pat1"
"00301344"	""	""	""	"1"	""	"03677"	"{PMID:Itai 2021:33131106}, {DOI:Itai 2021:10.1002/humu.24130}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Malaysia"	""	"0"	""	""	""	"Pat2"
"00301345"	""	""	""	"1"	""	"03677"	"{PMID:Itai 2021:33131106}, {DOI:Itai 2021:10.1002/humu.24130}"	"2-generation family, 1 affected, unaffected heterozygous carrier father/mosaic mother"	"F"	"no"	"Japan"	""	"0"	""	""	""	"Pat3"
"00301346"	""	""	""	"1"	""	"03677"	"{PMID:Itai 2021:33131106}, {DOI:Itai 2021:10.1002/humu.24130}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Romania"	""	"0"	""	""	""	"Pat4"
"00307405"	""	""	""	"1"	""	"03677"	"{PMID:Itai 2021:33131106}, {DOI:Itai 2021:10.1002/humu.24130}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Switzerland"	""	"0"	""	""	"Europe"	"Pat5"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00301343"	"00198"
"00301344"	"00198"
"00301345"	"00198"
"00301346"	"00198"
"00307405"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 06905, 06906
## Count = 5
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000230494"	"00198"	"00301343"	"03677"	"Isolated (sporadic)"	"01y08m"	"12m-eye-tracking, 12m-social smile; no speech, no two-word sentences; 7m-stable head and neck, never crawled; 2y-sitting alone, never walked; intellectual disability; no autistic features; 7.5m onset early infantile epileptic encephalopathy; no dysmorphology; no cardiac features; hypotonia; tremor; mild thoracic scoliosis; nystagmus, astigmatism; swallowing issue; MRI brain normal"	"00y07m"	""	""	""	"ItaiToshiyuki"	""	""	""	"DEE97"	"seizure"	""
"0000230503"	"00198"	"00301344"	"03677"	"Isolated (sporadic)"	"11y"	"never eye-tracking, never social smile; no speech, no two-word sentences; 2y-stable head and neck, 20m-rolling over, 3y-crawled; 2y-sitting alone, 4y-walked; intellectual disability; autistic features; 2.5m onset early infantile epileptic encephalopathy; no dysmorphology; no cardiac features; no motor/neurological findings; no involuntary movement; no skeletal anomalies; myopia; MRI brain normal"	"00y02m"	""	""	""	""	""	""	""	"DEE97"	"epileptic encephalopathy"	""
"0000230504"	"00198"	"00301345"	"03677"	"Isolated (sporadic)"	"01y09m"	"eye-tracking; speech, two-word sentences; stable head and neck control, rolling-over, crawled; sitting alone, walked; intellectual disability; autistic features; 4m onset West syndrome; no dysmorphology; no cardiac features; no motor/neurological findings; hand wringing; no skeletal anomalies; MRI brain normal"	"00y04m"	""	""	""	"ItaiToshiyuki"	""	""	""	"DEE97"	"West syndrome"	""
"0000230505"	"00198"	"00301346"	"03677"	"Isolated (sporadic)"	"05y"	"16m-eye-tracking; no speech, no two-word sentences; 16m-stable head and neck, 2y-rolling over, 3y-crawled; never sitting alone, never walked; intellectual disability; autistic features; 4m onset early infantile epileptic encephalopathy; no dysmorphology; no cardiac features; hypotonia; no involuntary movement; no skeletal anomalies; visual perceptual disorder; elevated lactate; MRI brain abnormal"	"00y00m05d"	""	""	""	""	""	""	""	"DEE97"	""	""
"0000238235"	"00198"	"00307405"	"03677"	"Isolated (sporadic)"	"33y"	"<4y limited speech, <7y two-word sentences; 7m-sitting alone, 11m-walked; intellectual disability; autistic features; no epilepsy; no dysmorphology; mild mitral valve prolapse; no motor/neurological findings; no involuntary movement; mild scoliosis"	"04y?"	""	""	""	""	""	""	""	"DEE97"	"intellectual disability"	""


## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000302467"	"00301343"	"1"	"03677"	"03677"	"2020-05-15 08:05:49"	""	""	"SEQ-NG-I"	"DNA"	""	"ItaiToshiyuki"
"0000304552"	"00301344"	"1"	"03677"	"03677"	"2020-06-12 13:23:49"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000304553"	"00301345"	"1"	"03677"	"03677"	"2020-06-12 13:26:26"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000304554"	"00301346"	"1"	"03677"	"03677"	"2020-06-12 13:32:45"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000315084"	"00307405"	"1"	"03677"	"03677"	"2020-10-07 04:22:16"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{geneid}}"
"0000302467"	"CELF2"
"0000304552"	"CELF2"
"0000304553"	"CELF2"
"0000304554"	"CELF2"
"0000315084"	"CELF2"


## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 20
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"	"{{VariantOnGenome/ClinicalClassification}}"	"{{VariantOnGenome/ClinicalClassification/Method}}"
"0000321427"	"0"	"50"	"10"	"11367916"	"11367919"	"del"	"0"	"01804"	"CELF2_000002"	"g.11367916_11367919del"	""	""	""	"CELF2(NM_006561.3):c.1409_1412del (p.(Lys471ArgfsTer4))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11325953_11325956del"	""	"VUS"	""
"0000612298"	"0"	"70"	"10"	"11371008"	"11371008"	"subst"	"0"	"01943"	"CELF2_000006"	"g.11371008C>T"	""	""	""	"CELF2(NM_001025077.2):c.1519C>T (p.P507S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11329045C>T"	""	"likely pathogenic"	""
"0000668018"	"0"	"90"	"10"	"11371008"	"11371008"	"subst"	"0"	"03677"	"CELF2_000006"	"g.11371008C>T"	""	"{PMID:Itai 2021:33131106}, {DOI:Itai 2021:10.1002/humu.24130}"	""	"NM_006561.3:c.1558C>T"	""	"De novo"	""	""	"0"	""	""	"g.11329045C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000668019"	"0"	"90"	"10"	"11371008"	"11371008"	"subst"	"0"	"03677"	"CELF2_000006"	"g.11371008C>T"	""	"{PMID:Itai 2021:33131106}, {DOI:Itai 2021:10.1002/humu.24130}"	""	"NM_006561.3:c.1558C>T"	""	"De novo"	""	""	"0"	""	""	"g.11329045C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000668020"	"21"	"90"	"10"	"11370966"	"11370966"	"subst"	"0"	"03677"	"CELF2_000007"	"g.11370966C>G"	""	"{PMID:Itai 2021:33131106}, {DOI:Itai 2021:10.1002/humu.24130}"	""	"NM_006561.3:c.1516C>G"	"mosaicism in mother (0.03-0.18 different tissues)"	"Germline"	""	""	"0"	""	""	"g.11329003C>G"	""	"pathogenic (dominant)"	"ACMG"
"0000668025"	"0"	"90"	"10"	"11371012"	"11371012"	"dup"	"0"	"03677"	"CELF2_000008"	"g.11371012dup"	""	"{PMID:Itai 2021:33131106}, {DOI:Itai 2021:10.1002/humu.24130}"	""	"NM_006561.3:c.1562dupA"	""	"De novo"	""	""	"0"	""	""	"g.11329049dup"	""	"pathogenic (dominant)"	"ACMG"
"0000697154"	"0"	"70"	"10"	"11259387"	"11259387"	"subst"	"0"	"03677"	"CELF2_000009"	"g.11259387G>C"	""	"{PMID:Itai 2021:33131106}, {DOI:Itai 2021:10.1002/humu.24130}"	""	"NM_006561.3:c.272-1G>C"	""	"De novo"	""	""	"0"	""	""	"g.11217424G>C"	""	"pathogenic (dominant)"	""
"0000722689"	"0"	"50"	"10"	"11363319"	"11363334"	"dup"	"0"	"02329"	"CELF2_000004"	"g.11363319_11363334dup"	""	""	""	"CELF2(NM_001025077.3):c.1225_1240dupCAGCAGAGCGCTGCAG (p.G414Afs*45)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888983"	"0"	"70"	"10"	"11207642"	"11207642"	"subst"	"0"	"02329"	"CELF2_000010"	"g.11207642A>T"	""	""	""	"CELF2(NM_001326330.2):c.175A>T (p.K59*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000913223"	"0"	"50"	"10"	"11330462"	"11330462"	"subst"	"0.000817073"	"02325"	"CELF2_000011"	"g.11330462A>G"	""	""	""	"CELF2(NM_006561.4):c.923A>G (p.N308S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978884"	"0"	"30"	"10"	"11207584"	"11207584"	"subst"	"0.000259947"	"01804"	"CELF2_000012"	"g.11207584C>T"	""	""	""	"CELF2(NM_001326338.2):c.-62C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998119"	"0"	"50"	"10"	"11312752"	"11312752"	"subst"	"0"	"01804"	"CELF2_000013"	"g.11312752A>C"	""	""	""	"CELF2(NM_006561.3):c.742A>C (p.(Thr248Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037706"	"0"	"30"	"10"	"10643702"	"10643703"	"del"	"0"	"01804"	"CELF2_000014"	"g.10643702_10643703del"	""	""	""	"CELF2(NM_001326317.2):c.-94-80717_-94-80716del"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037707"	"0"	"50"	"10"	"10838871"	"10838871"	"subst"	"0"	"01804"	"CELF2_000015"	"g.10838871G>A"	""	""	""	"CELF2(NM_001326325.2):c.16+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037708"	"0"	"50"	"10"	"10888054"	"10888054"	"subst"	"0"	"01804"	"CELF2_000016"	"g.10888054C>A"	""	""	""	"CELF2(NM_001326325.2):c.45C>A (p.(Cys15*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037726"	"0"	"30"	"10"	"11368252"	"11368253"	"ins"	"0"	"01804"	"CELF2_000017"	"g.11368252_11368253insGTA"	""	""	""	"CELF2(NM_001326342.2):c.1438+310_1438+311insGTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001046221"	"0"	"50"	"10"	"11330490"	"11330490"	"del"	"0"	"02325"	"CELF2_000018"	"g.11330490del"	""	""	""	"CELF2(NM_006561.4):c.951delC (p.S317Rfs*23)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053500"	"0"	"50"	"10"	"10888024"	"10888024"	"subst"	"0"	"01804"	"CELF2_000019"	"g.10888024A>G"	""	""	""	"CELF2(NM_001326325.2):c.17-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001065196"	"0"	"50"	"10"	"10888122"	"10888122"	"subst"	"0"	"02325"	"CELF2_000020"	"g.10888122A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001065197"	"0"	"70"	"10"	"11370967"	"11370967"	"subst"	"0"	"02325"	"CELF2_000021"	"g.11370967G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes CELF2
## Count = 40
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"
"0000321427"	"00004944"	"50"	"1319"	"0"	"1322"	"0"	"c.1319_1322del"	"r.(?)"	"p.(Lys440ArgfsTer4)"	""
"0000321427"	"00025563"	"50"	"1373"	"0"	"1376"	"0"	"c.1373_1376del"	"r.(?)"	"p.(Lys458ArgfsTer4)"	""
"0000612298"	"00004944"	"70"	"1465"	"0"	"1465"	"0"	"c.1465C>T"	"r.(?)"	"p.(Pro489Ser)"	""
"0000612298"	"00025563"	"70"	"1519"	"0"	"1519"	"0"	"c.1519C>T"	"r.(?)"	"p.(Pro507Ser)"	""
"0000668018"	"00004944"	"90"	"1465"	"0"	"1465"	"0"	"c.1465C>T"	"r.(?)"	"p.(Pro489Ser)"	"13"
"0000668018"	"00025563"	"90"	"1519"	"0"	"1519"	"0"	"c.1519C>T"	"r.(?)"	"p.(Pro507Ser)"	""
"0000668019"	"00004944"	"90"	"1465"	"0"	"1465"	"0"	"c.1465C>T"	"r.(?)"	"p.(Pro489Ser)"	"13"
"0000668019"	"00025563"	"90"	"1519"	"0"	"1519"	"0"	"c.1519C>T"	"r.(?)"	"p.(Pro507Ser)"	""
"0000668020"	"00004944"	"90"	"1423"	"0"	"1423"	"0"	"c.1423C>G"	"r.(?)"	"p.(Arg475Gly)"	"13"
"0000668020"	"00025563"	"90"	"1477"	"0"	"1477"	"0"	"c.1477C>G"	"r.(?)"	"p.(Arg493Gly)"	""
"0000668025"	"00004944"	"90"	"1469"	"0"	"1469"	"0"	"c.1469dup"	"r.(?)"	"p.(Tyr490*)"	"13"
"0000668025"	"00025563"	"90"	"1523"	"0"	"1523"	"0"	"c.1523dup"	"r.(?)"	"p.(Tyr508*)"	""
"0000697154"	"00004944"	"70"	"179"	"-1"	"179"	"-1"	"c.179-1G>C"	"r.spl"	"p.?"	""
"0000697154"	"00025563"	"70"	"251"	"-1"	"251"	"-1"	"c.251-1G>C"	"r.spl"	"p.?"	""
"0000722689"	"00004944"	"50"	"1171"	"0"	"1186"	"0"	"c.1171_1186dup"	"r.(?)"	"p.(Gly396AlafsTer45)"	""
"0000722689"	"00025563"	"50"	"1225"	"0"	"1240"	"0"	"c.1225_1240dup"	"r.(?)"	"p.(Gly414AlafsTer45)"	""
"0000888983"	"00004944"	"70"	"175"	"0"	"175"	"0"	"c.175A>T"	"r.(?)"	"p.(Lys59*)"	""
"0000888983"	"00025563"	"70"	"247"	"0"	"247"	"0"	"c.247A>T"	"r.(?)"	"p.(Lys83*)"	""
"0000913223"	"00004944"	"50"	"830"	"0"	"830"	"0"	"c.830A>G"	"r.(?)"	"p.(Asn277Ser)"	""
"0000913223"	"00025563"	"50"	"902"	"0"	"902"	"0"	"c.902A>G"	"r.(?)"	"p.(Asn301Ser)"	""
"0000978884"	"00004944"	"30"	"117"	"0"	"117"	"0"	"c.117C>T"	"r.(?)"	"p.(Tyr39=)"	""
"0000978884"	"00025563"	"30"	"189"	"0"	"189"	"0"	"c.189C>T"	"r.(?)"	"p.(=)"	""
"0000998119"	"00004944"	"50"	"649"	"0"	"649"	"0"	"c.649A>C"	"r.(?)"	"p.(Thr217Pro)"	""
"0000998119"	"00025563"	"50"	"721"	"0"	"721"	"0"	"c.721A>C"	"r.(?)"	"p.(Thr241Pro)"	""
"0001037706"	"00004944"	"30"	"-563598"	"0"	"-563597"	"0"	"c.-563598_-563597del"	"r.(?)"	"p.(=)"	""
"0001037706"	"00025563"	"30"	"-403649"	"0"	"-403648"	"0"	"c.-403649_-403648del"	"r.(?)"	"p.(=)"	""
"0001037707"	"00004944"	"50"	"-368429"	"0"	"-368429"	"0"	"c.-368429G>A"	"r.(?)"	"p.(=)"	""
"0001037707"	"00025563"	"50"	"-208480"	"0"	"-208480"	"0"	"c.-208480G>A"	"r.(?)"	"p.(=)"	""
"0001037708"	"00004944"	"50"	"-319246"	"0"	"-319246"	"0"	"c.-319246C>A"	"r.(?)"	"p.(=)"	""
"0001037708"	"00025563"	"50"	"-159297"	"0"	"-159297"	"0"	"c.-159297C>A"	"r.(?)"	"p.(=)"	""
"0001037726"	"00004944"	"30"	"1345"	"310"	"1345"	"311"	"c.1345+310_1345+311insGTA"	"r.(=)"	"p.(=)"	""
"0001037726"	"00025563"	"30"	"1399"	"310"	"1399"	"311"	"c.1399+310_1399+311insGTA"	"r.(=)"	"p.(=)"	""
"0001046221"	"00004944"	"50"	"858"	"0"	"858"	"0"	"c.858del"	"r.(?)"	"p.(Ser286Argfs*23)"	""
"0001046221"	"00025563"	"50"	"930"	"0"	"930"	"0"	"c.930del"	"r.(?)"	"p.(Ser310Argfs*23)"	""
"0001053500"	"00004944"	"50"	"-319276"	"0"	"-319276"	"0"	"c.-319276A>G"	"r.(?)"	"p.(=)"	""
"0001053500"	"00025563"	"50"	"-159327"	"0"	"-159327"	"0"	"c.-159327A>G"	"r.(?)"	"p.(=)"	""
"0001065196"	"00004944"	"50"	"-319178"	"0"	"-319178"	"0"	"c.-319178A>G"	"r.(?)"	"p.(=)"	""
"0001065196"	"00025563"	"50"	"-159229"	"0"	"-159229"	"0"	"c.-159229A>G"	"r.(?)"	"p.(=)"	""
"0001065197"	"00004944"	"70"	"1424"	"0"	"1424"	"0"	"c.1424G>A"	"r.(?)"	"p.(Arg475His)"	""
"0001065197"	"00025563"	"70"	"1478"	"0"	"1478"	"0"	"c.1478G>A"	"r.(?)"	"p.(Arg493His)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000302467"	"0000668018"
"0000304552"	"0000668019"
"0000304553"	"0000668020"
"0000304554"	"0000668025"
"0000315084"	"0000697154"