### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LHB) # 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}}" "LHB" "luteinizing hormone beta polypeptide" "19" "q13.3" "unknown" "NG_011464.1" "UD_132118410499" "" "https://www.LOVD.nl/LHB" "" "1" "6584" "3972" "152780" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/LHB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-19 16:49:52" "00000" "2023-01-11 15:44:22" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00011102" "LHB" "luteinizing hormone beta polypeptide" "001" "NM_000894.2" "" "NP_000885.1" "" "" "" "-9" "514" "426" "49520347" "49519237" "" "0000-00-00 00:00:00" "" "" ## 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" "01784" "HH23" "hypogonadism, hypogonadotropic, type 23, with/without anosmia (HH23)" "AR" "228300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-19 16:49:01" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LHB" "01784" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00385989" "" "" "" "1" "" "00006" "{PMID:Weiss 1992:1727547}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "United States" "" "0" "" "" "" "patient" "00385990" "" "" "" "1" "" "00006" "{PMID:Furui 1994:7904610}" "" "F" "" "Japan" "" "0" "" "" "" "Pat1" "00385991" "" "" "" "1" "" "00006" "{PMID:Furui 1994:7904610}" "" "F" "" "Japan" "" "0" "" "" "" "Pat2" "00385992" "" "" "" "1" "" "00006" "{PMID:Furui 1994:7904610}" "" "F" "" "Japan" "" "0" "" "" "" "Pat3" "00385993" "" "" "" "1" "" "00006" "{PMID:Raivio 1996:8784083}" "" "" "" "Finland" "" "0" "" "" "" "cases" "00385994" "" "" "" "1" "" "00006" "{PMID:Valdes-Socin 2004:15602022}" "" "M" "" "Cameroon" "" "0" "" "" "" "patient" "00385995" "" "" "" "3" "" "00006" "{PMID:Lofrano-Porto 2007:17761593}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Brazil" "" "0" "" "" "" "family" "00385996" "" "" "" "1" "" "00006" "{PMID:Achard 2009:19890128}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Morocco" "" "0" "" "" "" "patient" "00385997" "" "" "" "2" "" "00006" "{PMID:Basciani 2012:22723313}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "Chile" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00385989" "00198" "00385990" "05370" "00385991" "05370" "00385992" "05370" "00385993" "00198" "00385994" "00198" "00385995" "00198" "00385996" "00198" "00385997" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01784, 05370 ## Count = 9 "{{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}}" "0000279792" "00198" "00385989" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., delayed puberty" "" "" "" "" "" "" "" "" "" "delayed puberty" "" "0000279793" "05370" "00385990" "00006" "Familial, autosomal recessive" "" "see paper; ..., infertility, immunologically anomalous LH" "" "" "" "" "" "" "" "" "" "infertility" "" "0000279794" "05370" "00385991" "00006" "Familial, autosomal recessive" "" "see paper; ..., infertility, immunologically anomalous LH" "" "" "" "" "" "" "" "" "" "infertility" "" "0000279795" "05370" "00385992" "00006" "Familial, autosomal recessive" "" "see paper; ..., infertility, immunologically anomalous LH" "" "" "" "" "" "" "" "" "" "infertility" "" "0000279797" "00198" "00385993" "00006" "Unknown" "" "see paper; ..., smaller testicular volumes, shorter stature, slower growth rate, lower serum insulin-like growth factor I-binding protein-3 level" "" "" "" "" "" "" "" "" "" "" "" "0000279798" "00198" "00385994" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., sexual infantilism, hypogonadism, length 191 cm, weight 100 kg, arm span 205 cm, eunuchoid habitus, gynecomastia, juvenile voice" "" "" "" "" "" "" "" "" "" "hypogonadism" "" "0000279799" "00198" "00385995" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hypogonadism" "" "0000279800" "00198" "00385996" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadotropic hypogonadism" "" "" "" "" "" "" "" "" "" "hypogonadotropic hypogonadism" "" "0000279801" "00198" "00385997" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadism" "" "" "" "" "" "" "" "" "" "hypogonadism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000387217" "00385989" "1" "00006" "00006" "2021-10-19 16:55:25" "" "" "SEQ" "DNA" "" "" "0000387218" "00385990" "1" "00006" "00006" "2021-10-19 17:11:35" "" "" "SEQ" "DNA" "" "" "0000387219" "00385991" "1" "00006" "00006" "2021-10-19 17:11:35" "" "" "SEQ" "DNA" "" "" "0000387220" "00385992" "1" "00006" "00006" "2021-10-19 17:11:35" "" "" "SEQ" "DNA" "" "" "0000387221" "00385993" "1" "00006" "00006" "2021-10-19 17:11:35" "" "" "SEQ" "DNA" "" "" "0000387222" "00385994" "1" "00006" "00006" "2021-10-19 17:46:25" "" "" "SEQ" "DNA" "" "" "0000387223" "00385995" "1" "00006" "00006" "2021-10-19 17:54:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000387224" "00385996" "1" "00006" "00006" "2021-10-19 18:00:39" "" "" "SEQ" "DNA" "" "" "0000387225" "00385997" "1" "00006" "00006" "2021-10-19 18:33:23" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000387217" "LHB" "0000387218" "LHB" "0000387219" "LHB" "0000387220" "LHB" "0000387221" "LHB" "0000387222" "LHB" "0000387223" "LHB" "0000387224" "LHB" "0000387225" "LHB" ## 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 = 33 "{{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}}" "0000248240" "0" "10" "19" "49519997" "49519997" "subst" "0.573212" "02325" "LHB_000009" "g.49519997A>G" "" "" "" "LHB(NM_000894.2):c.16-26T>C, LHB(NM_000894.3):c.16-26T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49016740A>G" "" "benign" "" "0000250943" "0" "10" "19" "49519997" "49519997" "subst" "0.573212" "02326" "LHB_000009" "g.49519997A>G" "" "" "" "LHB(NM_000894.2):c.16-26T>C, LHB(NM_000894.3):c.16-26T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49016740A>G" "" "benign" "" "0000251095" "0" "10" "19" "49519883" "49519883" "subst" "0.0481499" "02326" "LHB_000004" "g.49519883A>G" "" "" "" "LHB(NM_000894.2):c.104T>C (p.I35T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49016626A>G" "" "benign" "" "0000251165" "0" "10" "19" "49519905" "49519905" "subst" "0.0650626" "02326" "LHB_000005" "g.49519905A>G" "" "" "" "LHB(NM_000894.2):c.82T>C (p.W28R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49016648A>G" "" "benign" "" "0000282209" "0" "10" "19" "49519873" "49519873" "subst" "0.563657" "02325" "LHB_000003" "g.49519873G>C" "" "" "" "LHB(NM_000894.2):c.114C>G (p.V38=), LHB(NM_000894.3):c.114C>G (p.V38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49016616G>C" "" "benign" "" "0000282210" "0" "10" "19" "49519855" "49519855" "subst" "0.51781" "02325" "LHB_000002" "g.49519855T>G" "" "" "" "LHB(NM_000894.2):c.132A>C (p.P44=), LHB(NM_000894.3):c.132A>C (p.P44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49016598T>G" "" "benign" "" "0000282211" "0" "10" "19" "49520315" "49520315" "subst" "0.490473" "02325" "LHB_000008" "g.49520315T>C" "" "" "" "LHB(NM_000894.3):c.15+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49017058T>C" "" "benign" "" "0000282212" "0" "10" "19" "49519786" "49519786" "del" "0.579421" "02325" "LHB_000001" "g.49519786del" "" "" "" "LHB(NM_000894.3):c.183+18delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49016529del" "" "benign" "" "0000285972" "0" "10" "19" "49519873" "49519873" "subst" "0.563657" "02326" "LHB_000003" "g.49519873G>C" "" "" "" "LHB(NM_000894.2):c.114C>G (p.V38=), LHB(NM_000894.3):c.114C>G (p.V38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49016616G>C" "" "benign" "" "0000285973" "0" "10" "19" "49519855" "49519855" "subst" "0.51781" "02326" "LHB_000002" "g.49519855T>G" "" "" "" "LHB(NM_000894.2):c.132A>C (p.P44=), LHB(NM_000894.3):c.132A>C (p.P44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49016598T>G" "" "benign" "" "0000285974" "0" "10" "19" "49520037" "49520037" "subst" "0.00694528" "02326" "LHB_000007" "g.49520037C>T" "" "" "" "LHB(NM_000894.2):c.16-66G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49016780C>T" "" "benign" "" "0000285975" "0" "10" "19" "49519942" "49519942" "subst" "0.0099283" "02326" "LHB_000006" "g.49519942C>T" "" "" "" "LHB(NM_000894.2):c.45G>A (p.M15I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49016685C>T" "" "benign" "" "0000567943" "0" "10" "19" "49519466" "49519466" "subst" "0.609595" "02325" "LHB_000010" "g.49519466A>G" "" "" "" "LHB(NM_000894.3):c.285T>C (p.G95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49016209A>G" "" "benign" "" "0000567944" "0" "10" "19" "49519793" "49519793" "subst" "0.581597" "02325" "LHB_000011" "g.49519793A>G" "" "" "" "LHB(NM_000894.2):c.183+11T>C, LHB(NM_000894.3):c.183+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49016536A>G" "" "benign" "" "0000567945" "0" "10" "19" "49519793" "49519793" "subst" "0.581597" "02326" "LHB_000011" "g.49519793A>G" "" "" "" "LHB(NM_000894.2):c.183+11T>C, LHB(NM_000894.3):c.183+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49016536A>G" "" "benign" "" "0000567946" "0" "90" "19" "49520335" "49520335" "subst" "0" "02327" "LHB_000012" "g.49520335C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49017078C>A" "" "pathogenic" "" "0000692856" "0" "90" "19" "49519897" "49519897" "del" "0" "02327" "LHB_000013" "g.49519897del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727475" "0" "30" "19" "49494551" "49494551" "subst" "0.00165919" "01943" "GYS1_000013" "g.49494551C>T" "" "" "" "GYS1(NM_002103.4):c.300+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808977" "0" "30" "19" "49494552" "49494552" "subst" "0.000118475" "01943" "GYS1_000015" "g.49494552G>A" "" "" "" "GYS1(NM_002103.4):c.300+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815098" "3" "90" "19" "49519530" "49519530" "subst" "0" "00006" "LHB_000014" "g.49519530T>C" "" "{PMID:Weiss 1992:1727547}" "" "161A>G (Gln54Arg)" "3 heterozygous carrier maternal uncles infertile" "Germline" "" "" "0" "" "" "g.49016273T>C" "" "pathogenic (!)" "" "0000815099" "3" "50" "19" "49519905" "49519905" "subst" "0.0650626" "00006" "LHB_000005" "g.49519905A>G" "" "{PMID:Furui 1994:7904610}" "" "T>C (Trp8Arg)" "two linked variants" "Germline" "" "" "0" "" "" "g.49016648A>G" "" "pathogenic (!)" "" "0000815100" "3" "50" "19" "49519883" "49519883" "subst" "0.0481499" "00006" "LHB_000004" "g.49519883A>G" "" "{PMID:Furui 1994:7904610}" "" "T>C (Ile15Thr)" "two linked variants" "Germline" "" "" "0" "" "" "g.49016626A>G" "" "pathogenic (!)" "" "0000815101" "3" "50" "19" "49519905" "49519905" "subst" "0.0650626" "00006" "LHB_000005" "g.49519905A>G" "" "{PMID:Furui 1994:7904610}" "" "T>C (Trp8Arg)" "two linked variants" "Germline" "" "" "0" "" "" "g.49016648A>G" "" "pathogenic (!)" "" "0000815102" "3" "50" "19" "49519883" "49519883" "subst" "0.0481499" "00006" "LHB_000004" "g.49519883A>G" "" "{PMID:Furui 1994:7904610}" "" "T>C (Ile15Thr)" "two linked variants" "Germline" "" "" "0" "" "" "g.49016626A>G" "" "pathogenic (!)" "" "0000815103" "3" "50" "19" "49519905" "49519905" "subst" "0.0650626" "00006" "LHB_000005" "g.49519905A>G" "" "{PMID:Furui 1994:7904610}" "" "T>C (Trp8Arg)" "two linked variants" "Germline" "" "" "0" "" "" "g.49016648A>G" "" "pathogenic (!)" "" "0000815104" "3" "50" "19" "49519883" "49519883" "subst" "0.0481499" "00006" "LHB_000004" "g.49519883A>G" "" "{PMID:Furui 1994:7904610}" "" "T>C (Ile15Thr)" "two linked variants" "Germline" "" "" "0" "" "" "g.49016626A>G" "" "pathogenic (!)" "" "0000815105" "1" "50" "19" "49519905" "49519905" "subst" "0.0650626" "00006" "LHB_000005" "g.49519905A>G" "" "{PMID:Raivio 1996:8784083}" "" "T>C (Trp8Arg)" "two linked variants" "Germline" "" "" "0" "" "" "g.49016648A>G" "" "association" "" "0000815106" "1" "50" "19" "49519883" "49519883" "subst" "0.0481499" "00006" "LHB_000004" "g.49519883A>G" "" "{PMID:Raivio 1996:8784083}" "" "T>C (Ile15Thr)" "two linked variants" "Germline" "" "" "0" "" "" "g.49016626A>G" "" "association" "" "0000815107" "3" "90" "19" "49519820" "49519820" "subst" "1.22992E-5" "00006" "LHB_000015" "g.49519820C>T" "" "{PMID:Valdes-Socin 2004:15602022}" "" "Gly36Asp" "" "Germline" "" "" "0" "" "" "g.49016563C>T" "" "pathogenic (recessive)" "" "0000815108" "3" "90" "19" "49519803" "49519803" "subst" "0" "00006" "LHB_000016" "g.49519803C>G" "" "{PMID:Lofrano-Porto 2007:17761593}" "" "IVS2+1G>C" "" "Germline" "yes" "" "0" "" "" "g.49016546C>G" "" "pathogenic (recessive)" "" "0000815109" "3" "90" "19" "49519892" "49519900" "del" "0" "00006" "LHB_000017" "g.49519892_49519900del" "" "{PMID:Achard 2009:19890128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49016635_49016643del" "" "pathogenic (recessive)" "" "0000815110" "11" "90" "19" "49519958" "49519969" "del" "0" "00006" "LHB_000018" "g.49519958_49519969del" "" "{PMID:Basciani 2012:22723313}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49016701_49016712del" "" "pathogenic (recessive)" "" "0000815111" "21" "90" "19" "49519803" "49519803" "subst" "0" "00006" "LHB_000019" "g.49519803C>A" "" "{PMID:Basciani 2012:22723313}" "" "IVS2+1G>T" "" "Germline" "yes" "" "0" "" "" "g.49016546C>A" "" "pathogenic (recessive)" "" ## 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 LHB ## Count = 33 "{{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}}" "0000248240" "00011102" "10" "16" "-26" "16" "-26" "c.16-26T>C" "r.(=)" "p.(=)" "" "0000250943" "00011102" "10" "16" "-26" "16" "-26" "c.16-26T>C" "r.(=)" "p.(=)" "" "0000251095" "00011102" "10" "104" "0" "104" "0" "c.104T>C" "r.(?)" "p.(Ile35Thr)" "" "0000251165" "00011102" "10" "82" "0" "82" "0" "c.82T>C" "r.(?)" "p.(Trp28Arg)" "" "0000282209" "00011102" "10" "114" "0" "114" "0" "c.114C>G" "r.(?)" "p.(Val38=)" "" "0000282210" "00011102" "10" "132" "0" "132" "0" "c.132A>C" "r.(?)" "p.(Pro44=)" "" "0000282211" "00011102" "10" "15" "9" "15" "9" "c.15+9A>G" "r.(=)" "p.(=)" "" "0000282212" "00011102" "10" "183" "18" "183" "18" "c.183+18del" "r.(=)" "p.(=)" "" "0000285972" "00011102" "10" "114" "0" "114" "0" "c.114C>G" "r.(?)" "p.(Val38=)" "" "0000285973" "00011102" "10" "132" "0" "132" "0" "c.132A>C" "r.(?)" "p.(Pro44=)" "" "0000285974" "00011102" "10" "16" "-66" "16" "-66" "c.16-66G>A" "r.(=)" "p.(=)" "" "0000285975" "00011102" "10" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Met15Ile)" "" "0000567943" "00011102" "10" "285" "0" "285" "0" "c.285T>C" "r.(?)" "p.(Gly95=)" "" "0000567944" "00011102" "10" "183" "11" "183" "11" "c.183+11T>C" "r.(=)" "p.(=)" "" "0000567945" "00011102" "10" "183" "11" "183" "11" "c.183+11T>C" "r.(=)" "p.(=)" "" "0000567946" "00011102" "90" "4" "0" "4" "0" "c.4G>T" "r.(?)" "p.(Glu2Ter)" "" "0000692856" "00011102" "90" "93" "0" "93" "0" "c.93del" "r.(?)" "p.(Ile32SerfsTer30)" "" "0000727475" "00011102" "30" "25200" "0" "25200" "0" "c.*24774G>A" "r.(=)" "p.(=)" "" "0000808977" "00011102" "30" "25199" "0" "25199" "0" "c.*24773C>T" "r.(=)" "p.(=)" "" "0000815098" "00011102" "90" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(Gln74Arg)" "" "0000815099" "00011102" "50" "82" "0" "82" "0" "c.82T>C" "r.(?)" "p.(Trp28Arg)" "" "0000815100" "00011102" "50" "104" "0" "104" "0" "c.104T>C" "r.(?)" "p.(Ile35Thr)" "" "0000815101" "00011102" "50" "82" "0" "82" "0" "c.82T>C" "r.(?)" "p.(Trp28Arg)" "" "0000815102" "00011102" "50" "104" "0" "104" "0" "c.104T>C" "r.(?)" "p.(Ile35Thr)" "" "0000815103" "00011102" "50" "82" "0" "82" "0" "c.82T>C" "r.(?)" "p.(Trp28Arg)" "" "0000815104" "00011102" "50" "104" "0" "104" "0" "c.104T>C" "r.(?)" "p.(Ile35Thr)" "" "0000815105" "00011102" "50" "82" "0" "82" "0" "c.82T>C" "r.(?)" "p.(Trp28Arg)" "" "0000815106" "00011102" "50" "104" "0" "104" "0" "c.104T>C" "r.(?)" "p.(Ile35Thr)" "" "0000815107" "00011102" "90" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Gly56Asp)" "" "0000815108" "00011102" "90" "183" "1" "183" "1" "c.183+1G>C" "r.183_184ins[c;183+2_184-1]" "p.?" "" "0000815109" "00011102" "90" "88" "0" "96" "0" "c.88_96del" "r.(?)" "p.(His30_Ile32del)" "" "0000815110" "00011102" "90" "28" "0" "39" "0" "c.28_39del" "r.(?)" "p.(Leu10_Leu13del)" "" "0000815111" "00011102" "90" "183" "1" "183" "1" "c.183+1G>T" "r.183_184ins[u;183+2_184-1]" "p.?" "2i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000387217" "0000815098" "0000387218" "0000815099" "0000387218" "0000815100" "0000387219" "0000815101" "0000387219" "0000815102" "0000387220" "0000815103" "0000387220" "0000815104" "0000387221" "0000815105" "0000387221" "0000815106" "0000387222" "0000815107" "0000387223" "0000815108" "0000387224" "0000815109" "0000387225" "0000815110" "0000387225" "0000815111"