### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GH1) # 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}}" "GH1" "growth hormone 1" "17" "q22-q24" "unknown" "NG_011676.1" "UD_132084440871" "" "https://www.LOVD.nl/GH1" "" "1" "4261" "2688" "139250" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/GH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-11-08 20:33:01" "00006" "2025-10-24 22:46:28" ## 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}}" "00008493" "GH1" "transcript variant 1" "005" "NM_000515.3" "" "NP_000506.2" "" "" "" "-62" "760" "654" "61996198" "61994563" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01007" "IGHD1A" "growth hormone deficiency, isolated, type IA (IGHD-1A)" "AR" "262400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01008" "IGHD1B" "growth hormone deficiency, isolated, type IB (IGHD-1B)" "" "612781" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01009" "IGHD2" "growth hormone deficiency, isolated, type II (IGHD-2)" "AD" "173100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01010" "Kowarski" "Kowarski syndrome" "AR" "262650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "GH1" "01007" "GH1" "01008" "GH1" "01009" "GH1" "01010" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00132792" "" "" "" "5" "" "00006" "{PMID:Moseley 2002:11836331}" "4-generation family, 5 affecteds (2F, 3M)" "F;M" "no" "Switzerland" "" "0" "" "" "" "11836331-Fam" "00449782" "" "" "" "1" "" "04689" "" "" "" "" "" "" "" "" "" "" "" "00459486" "" "" "" "4" "" "04787" "" "" "M" "yes" "Pakistan" "" "" "" "" "" "NAD-03 IV:3" "00466696" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat17" "00467622" "" "" "" "2" "" "00006" "{PMID:Elmas 2019:30426380}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "FamPat2" "00467623" "" "" "00467622" "1" "" "00006" "{PMID:Elmas 2019:30426380}" "brother" "M" "yes" "Turkey" "" "0" "" "" "" "FamPat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00132792" "01009" "00449782" "01009" "00459486" "01007" "00466696" "04184" "00467622" "00198" "00467623" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01007, 01008, 01009, 01010, 04184 ## Count = 6 "{{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}}" "0000105557" "01009" "00132792" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000338927" "01009" "00449782" "04689" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000347562" "01007" "00459486" "04787" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "IGHD1A" "growth hormone deficiency" "" "0000352059" "04184" "00466696" "00006" "Unknown" "12y" "see paper; ..., growth hormone deficiency; height SDS-2.53; birth weight SDS-1.6, length SDS-0.65" "" "" "" "" "" "" "" "" "" "short stature" "" "0000352834" "00198" "00467622" "00006" "Isolated (sporadic)" "5y10m" "see paper; ..., endocrine system disorders; speech disability, lack of eye contact, mild learning disability, perinatal asphyxia, short stature; MRI empty sella; no cardiac anomalies" "12m" "" "" "" "" "" "" "" "IGHD2" "" "" "0000352835" "00198" "00467623" "00006" "Familial, autosomal dominant" "4y3m" "see paper; ..., endocrine system disorders; speech disability, lack of eye contact, autistic behaviors, mild learning disability, perinatal asphyxia, short stature; MRI empty sella; no cardiac anomalies" "12m" "" "" "" "" "" "" "" "IGHD2" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133627" "00132792" "1" "00006" "00006" "2017-11-08 20:40:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000451377" "00449782" "1" "04689" "04689" "2024-05-15 08:53:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000461111" "00459486" "1" "04787" "04787" "2025-01-06 07:03:55" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000468360" "00466696" "1" "00006" "00006" "2025-09-23 14:50:33" "" "" "SEQ-NG" "DNA" "" "WES" "0000469287" "00467622" "1" "00006" "00006" "2025-10-24 22:46:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469288" "00467623" "1" "00006" "00006" "2025-10-24 22:46:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000133627" "GH1" "0000451377" "GH1" ## 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 = 86 "{{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}}" "0000222865" "1" "90" "17" "61995492" "61995492" "subst" "0" "00006" "GH1_000001" "g.61995492T>C" "" "{PMID:Moseley 2002:11836331}" "MboII-" "E3+5A>G" "effect confirmed by in vitro expression cloning, analysing 173A>C, 174A>C/G, 175G>C, 177A>C, 177A>G as well" "Germline" "yes" "" "0" "" "" "g.63918132T>C" "" "pathogenic" "" "0000562639" "0" "30" "17" "61994708" "61994708" "subst" "0.000410459" "01804" "GH1_000002" "g.61994708G>C" "" "" "" "GH1(NM_000515.3):c.615C>G (p.(Ile205Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63917348G>C" "" "likely benign" "" "0000562640" "0" "50" "17" "61994708" "61994708" "subst" "0.000410459" "02327" "GH1_000002" "g.61994708G>C" "" "" "" "GH1(NM_000515.3):c.615C>G (p.(Ile205Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63917348G>C" "" "VUS" "" "0000562641" "0" "30" "17" "61994777" "61994777" "subst" "0.000211413" "01804" "GH1_000003" "g.61994777T>C" "" "" "" "GH1(NM_000515.3):c.546A>G (p.(Leu182=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63917417T>C" "" "likely benign" "" "0000562642" "0" "30" "17" "61994842" "61994842" "subst" "1.62629E-5" "01804" "GH1_000004" "g.61994842T>G" "" "" "" "GH1(NM_000515.3):c.481A>C (p.(Thr161Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63917482T>G" "" "likely benign" "" "0000562643" "0" "30" "17" "61995108" "61995108" "subst" "0.00041422" "01804" "GH1_000005" "g.61995108C>T" "" "" "" "GH1(NM_000515.3):c.456+12G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63917748C>T" "" "likely benign" "" "0000562644" "0" "10" "17" "61995129" "61995129" "subst" "0.00810552" "01804" "GH1_000006" "g.61995129C>T" "" "" "" "GH1(NM_000515.3):c.447G>A (p.(Thr149=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63917769C>T" "" "benign" "" "0000562645" "0" "10" "17" "61995170" "61995170" "subst" "0.00570166" "01804" "GH1_000007" "g.61995170C>T" "" "" "" "GH1(NM_000515.3):c.406G>A (p.(Val136Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63917810C>T" "" "benign" "" "0000562646" "0" "10" "17" "61995213" "61995213" "subst" "0.000718869" "01804" "GH1_000008" "g.61995213A>T" "" "" "" "GH1(NM_000515.3):c.363T>A (p.(Ser121Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63917853A>T" "" "benign" "" "0000562647" "0" "50" "17" "61995230" "61995230" "subst" "8.12282E-6" "01804" "GH1_000009" "g.61995230C>T" "" "" "" "GH1(NM_000515.3):c.346G>A (p.(Val116Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63917870C>T" "" "VUS" "" "0000562648" "0" "30" "17" "61995300" "61995300" "subst" "0.000787907" "01804" "GH1_000010" "g.61995300G>C" "" "" "" "GH1(NM_000515.3):c.292-16C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63917940G>C" "" "likely benign" "" "0000562649" "0" "50" "17" "61995399" "61995399" "subst" "4.06114E-6" "01804" "GH1_000011" "g.61995399C>A" "" "" "" "GH1(NM_000515.3):c.269G>T (p.(Arg90Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63918039C>A" "" "VUS" "" "0000562651" "0" "30" "17" "61995860" "61995860" "subst" "9.75182E-5" "01804" "GH1_000013" "g.61995860C>T" "" "" "" "GH1(NM_000515.3):c.17G>A (p.(Arg6Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63918500C>T" "" "likely benign" "" "0000562652" "0" "30" "17" "61995861" "61995861" "subst" "0.000853319" "01804" "GH1_000014" "g.61995861G>T" "" "" "" "GH1(NM_000515.3):c.16C>A (p.(Arg6=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63918501G>T" "" "likely benign" "" "0000562653" "0" "30" "17" "61995862" "61995862" "subst" "0.00104426" "01804" "GH1_000015" "g.61995862G>A" "" "" "" "GH1(NM_000515.3):c.15C>T (p.(Ser5=)), GH1(NM_000515.4):c.15C>T (p.S5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63918502G>A" "" "likely benign" "" "0000562654" "0" "30" "17" "61996130" "61996130" "subst" "0.0142382" "01804" "GH1_000016" "g.61996130T>C" "" "" "" "GH1(NM_000515.3):c.7A>G (p.(Thr3Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63918770T>C" "" "likely benign" "" "0000658228" "0" "90" "17" "61995376" "61995376" "subst" "0" "02327" "GH1_000017" "g.61995376C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63918016C>T" "" "pathogenic" "" "0000703980" "0" "30" "17" "61995725" "61995725" "subst" "0.00108425" "03779" "GH1_000018" "g.61995725A>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs61735357" "0" "" "" "" "" "likely benign" "" "0000726606" "0" "30" "17" "61994782" "61994782" "subst" "4.06567E-6" "01804" "GH1_000019" "g.61994782C>T" "" "" "" "GH1(NM_000515.3):c.541G>A (p.(Ala181Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726608" "0" "30" "17" "61996130" "61996130" "subst" "0.00021245" "01804" "GH1_000021" "g.61996130T>G" "" "" "" "GH1(NM_000515.3):c.7A>C (p.(Thr3Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808202" "0" "30" "17" "61995862" "61995862" "subst" "0.00104426" "01943" "GH1_000015" "g.61995862G>A" "" "" "" "GH1(NM_000515.3):c.15C>T (p.(Ser5=)), GH1(NM_000515.4):c.15C>T (p.S5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865411" "0" "30" "17" "61994684" "61994684" "subst" "1.21889E-5" "01804" "GH1_000022" "g.61994684G>A" "" "" "" "GH1(NM_000515.3):c.639C>T (p.(Gly213=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865412" "0" "30" "17" "61994690" "61994690" "subst" "1.21895E-5" "01804" "GH1_000023" "g.61994690C>T" "" "" "" "GH1(NM_000515.3):c.633G>A (p.(Val211=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865413" "0" "90" "17" "61994712" "61994712" "subst" "2.03202E-5" "01804" "GH1_000024" "g.61994712C>T" "" "" "" "GH1(NM_000515.3):c.611G>A (p.(Arg204His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865414" "0" "30" "17" "61994726" "61994726" "subst" "0.0002439" "01804" "GH1_000025" "g.61994726G>C" "" "" "" "GH1(NM_000515.3):c.597C>G (p.(Val199=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865415" "0" "50" "17" "61994736" "61994736" "subst" "8.13035E-6" "02329" "GH1_000026" "g.61994736A>G" "" "" "" "GH1(NM_000515.4):c.587T>C (p.M196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865416" "0" "30" "17" "61994845" "61994845" "subst" "8.53818E-5" "01804" "GH1_000027" "g.61994845G>A" "" "" "" "GH1(NM_000515.3):c.478C>T (p.(Arg160Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865417" "0" "30" "17" "61995101" "61995101" "subst" "0.00627467" "01804" "GH1_000028" "g.61995101C>A" "" "" "" "GH1(NM_000515.3):c.456+19G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865418" "0" "10" "17" "61995102" "61995102" "subst" "0.00147827" "01804" "GH1_000029" "g.61995102C>A" "" "" "" "GH1(NM_000515.3):c.456+18G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865419" "0" "30" "17" "61995189" "61995189" "subst" "5.6856E-5" "01804" "GH1_000030" "g.61995189G>A" "" "" "" "GH1(NM_000515.3):c.387C>T (p.(Tyr129=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865420" "0" "50" "17" "61995206" "61995206" "subst" "0" "01804" "GH1_000031" "g.61995206C>G" "" "" "" "GH1(NM_000515.3):c.370G>C (p.(Ala124Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865421" "0" "30" "17" "61995207" "61995207" "subst" "1.21838E-5" "01804" "GH1_000032" "g.61995207G>A" "" "" "" "GH1(NM_000515.3):c.369C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865422" "0" "30" "17" "61995243" "61995243" "subst" "0.00010965" "01804" "GH1_000033" "g.61995243C>T" "" "" "" "GH1(NM_000515.3):c.333G>A (p.(Ser111=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865423" "0" "30" "17" "61995251" "61995251" "subst" "0" "01804" "GH1_000020" "g.61995251T>G" "" "" "" "GH1(NM_000515.3):c.325A>C (p.(Ile109Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865424" "0" "30" "17" "61995299" "61995299" "subst" "6.09191E-5" "01804" "GH1_000034" "g.61995299C>T" "" "" "" "GH1(NM_000515.3):c.292-15G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865425" "0" "90" "17" "61995414" "61995414" "subst" "0" "01804" "GH1_000035" "g.61995414G>A" "" "" "" "GH1(NM_000515.3):c.254C>T (p.(Pro85Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865426" "0" "50" "17" "61995415" "61995415" "subst" "0" "01804" "GH1_000036" "g.61995415G>C" "" "" "" "GH1(NM_000515.3):c.253C>G (p.(Pro85Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865427" "0" "50" "17" "61995451" "61995451" "subst" "0.000170592" "01804" "GH1_000037" "g.61995451T>C" "" "" "" "GH1(NM_000515.3):c.217A>G (p.(Asn73Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865428" "0" "30" "17" "61995511" "61995511" "subst" "4.87599E-5" "01804" "GH1_000038" "g.61995511G>C" "" "" "" "GH1(NM_000515.3):c.172-15C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865429" "0" "30" "17" "61995721" "61995721" "subst" "4.06085E-5" "01804" "GH1_000039" "g.61995721G>A" "" "" "" "GH1(NM_000515.3):c.156C>T (p.(Asp52=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865430" "0" "30" "17" "61995725" "61995725" "subst" "0.00108425" "01804" "GH1_000018" "g.61995725A>T" "" "" "" "GH1(NM_000515.3):c.152T>A (p.(Phe51Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865431" "0" "30" "17" "61995727" "61995727" "subst" "0.0010883" "01804" "GH1_000040" "g.61995727G>T" "" "" "" "GH1(NM_000515.3):c.150C>A (p.(Ala50=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865432" "0" "50" "17" "61995753" "61995753" "subst" "0" "01804" "GH1_000041" "g.61995753G>T" "" "" "" "GH1(NM_000515.3):c.124C>A (p.(Arg42Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865433" "0" "10" "17" "61995761" "61995761" "subst" "0.002071" "01804" "GH1_000042" "g.61995761G>A" "" "" "" "GH1(NM_000515.3):c.116C>T (p.(Ala39Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000878264" "0" "50" "17" "61994845" "61994845" "subst" "8.53818E-5" "03779" "GH1_000027" "g.61994845G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs377600944" "0" "" "" "" "" "VUS" "" "0000882147" "0" "50" "17" "61995802" "61995802" "subst" "0" "03779" "GH1_000051" "g.61995802A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000894163" "0" "50" "17" "61994843" "61994843" "subst" "4.0657E-5" "01804" "GH1_000043" "g.61994843C>A" "" "" "" "GH1(NM_000515.3):c.480G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894164" "0" "50" "17" "61994857" "61994857" "subst" "6.91175E-5" "01804" "GH1_000044" "g.61994857C>A" "" "" "" "GH1(NM_000515.3):c.466G>T (p.(Asp156Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894165" "0" "30" "17" "61994864" "61994864" "subst" "1.62629E-5" "01804" "GH1_000045" "g.61994864C>T" "" "" "" "GH1(NM_000515.3):c.459G>A (p.(Arg153=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894166" "0" "90" "17" "61995189" "61995189" "del" "0" "01804" "GH1_000046" "g.61995189del" "" "" "" "GH1(NM_000515.3):c.387del (p.(Tyr129*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894167" "0" "50" "17" "61995248" "61995248" "subst" "0.000113707" "01804" "GH1_000047" "g.61995248G>C" "" "" "" "GH1(NM_000515.3):c.328C>G (p.(Gln110Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894168" "0" "50" "17" "61995399" "61995399" "subst" "4.06114E-6" "01804" "GH1_000048" "g.61995399C>T" "" "" "" "GH1(NM_000515.3):c.269G>A (p.(Arg90Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894169" "0" "30" "17" "61995743" "61995743" "subst" "0.000129949" "01804" "GH1_000049" "g.61995743C>T" "" "" "" "GH1(NM_000515.3):c.134G>A (p.(Arg45His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894170" "0" "50" "17" "61995746" "61995746" "subst" "0" "02327" "GH1_000050" "g.61995746T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894171" "0" "30" "17" "61995856" "61995856" "subst" "0.00011376" "01804" "GH1_000052" "g.61995856C>T" "" "" "" "GH1(NM_000515.3):c.21G>A (p.(Thr7=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914945" "0" "50" "17" "61995188" "61995188" "subst" "6.90372E-5" "01804" "GH1_000053" "g.61995188C>T" "" "" "" "GH1(NM_000515.3):c.388G>A (p.(Gly130Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914946" "0" "30" "17" "61996121" "61996121" "subst" "6.50512E-5" "01804" "GH1_000054" "g.61996121G>A" "" "" "" "GH1(NM_000515.3):c.10+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926621" "0" "50" "17" "61994712" "61994712" "subst" "0" "01804" "GH1_000055" "g.61994712C>A" "" "" "" "GH1(NM_000515.3):c.611G>T (p.(Arg204Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926622" "0" "50" "17" "61995447" "61995447" "subst" "4.06161E-6" "01804" "GH1_000056" "g.61995447G>A" "" "" "" "GH1(NM_000515.3):c.221C>T (p.(Pro74Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926623" "0" "50" "17" "61995733" "61995733" "subst" "0" "01804" "GH1_000057" "g.61995733C>G" "" "" "" "GH1(NM_000515.3):c.144G>C (p.(Gln48His)), GH1(NM_000515.5):c.144G>C (p.Q48H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930869" "0" "50" "17" "61994732" "61994732" "subst" "0" "01804" "GH1_000058" "g.61994732G>T" "" "" "" "GH1(NM_000515.3):c.591C>A (p.(Asp197Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930870" "0" "30" "17" "61995101" "61995101" "subst" "0.000150267" "01804" "GH1_000059" "g.61995101C>T" "" "" "" "GH1(NM_000515.3):c.456+19G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930871" "0" "50" "17" "61995782" "61995782" "subst" "8.12163E-6" "02325" "GH1_000060" "g.61995782A>G" "" "" "" "GH1(NM_000515.5):c.95T>C (p.L32S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951011" "0" "50" "17" "61994701" "61994701" "subst" "8.12684E-6" "01804" "GH1_000061" "g.61994701A>G" "" "" "" "GH1(NM_000515.3):c.622T>C (p.(Cys208Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951012" "0" "50" "17" "61995511" "61995511" "subst" "0" "01804" "GH1_000062" "g.61995511G>A" "" "" "" "GH1(NM_000515.3):c.172-15C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951013" "0" "50" "17" "61995763" "61995763" "subst" "1.21828E-5" "01804" "GH1_000063" "g.61995763G>C" "" "" "" "GH1(NM_000515.3):c.114C>G (p.(Asn38Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969157" "0" "30" "17" "61995282" "61995282" "subst" "2.03056E-5" "01804" "GH1_000064" "g.61995282G>A" "" "" "" "GH1(NM_000515.3):c.294C>T (p.(Asn98=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969158" "0" "50" "17" "61995753" "61995753" "subst" "0.000121824" "02329" "GH1_000065" "g.61995753G>A" "" "" "" "GH1(NM_000515.5):c.124C>T (p.R42C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982710" "0" "30" "17" "61995103" "61995103" "subst" "0" "01804" "GH1_000066" "g.61995103C>A" "" "" "" "GH1(NM_000515.3):c.456+17G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982711" "0" "50" "17" "61995733" "61995733" "subst" "0" "02329" "GH1_000057" "g.61995733C>G" "" "" "" "GH1(NM_000515.3):c.144G>C (p.(Gln48His)), GH1(NM_000515.5):c.144G>C (p.Q48H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985240" "0" "70" "17" "61994697" "61994697" "subst" "0" "04689" "GH1_000067" "g.61994697C>T" "" "" "" "g.61994697G>A" "" "De novo" "" "" "0" "" "" "g.63917337C>T" "" "likely pathogenic" "" "0001003556" "0" "50" "17" "61994776" "61994776" "subst" "4.0656E-5" "02325" "GH1_000068" "g.61994776G>A" "" "" "" "GH1(NM_000515.5):c.547C>T (p.L183F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003557" "0" "30" "17" "61995449" "61995449" "subst" "4.06157E-6" "01804" "GH1_000069" "g.61995449G>A" "" "" "" "GH1(NM_000515.3):c.219C>T (p.(Asn73=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003558" "0" "30" "17" "61995511" "61995511" "subst" "0" "01804" "GH1_000070" "g.61995511G>T" "" "" "" "GH1(NM_000515.3):c.172-15C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015599" "0" "50" "17" "61994844" "61994844" "subst" "0" "01804" "GH1_000071" "g.61994844C>A" "" "" "" "GH1(NM_000515.3):c.479G>T (p.(Arg160Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015600" "0" "50" "17" "61994847" "61994847" "subst" "0" "01804" "GH1_000072" "g.61994847G>T" "" "" "" "GH1(NM_000515.3):c.476C>A (p.(Pro159His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015601" "0" "30" "17" "61995195" "61995195" "subst" "3.65479E-5" "01804" "GH1_000073" "g.61995195C>T" "" "" "" "GH1(NM_000515.3):c.381G>A (p.(Leu127=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015602" "0" "50" "17" "61995822" "61995822" "subst" "0.000166523" "01804" "GH1_000074" "g.61995822G>A" "" "" "" "GH1(NM_000515.3):c.55C>T (p.(Pro19Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020219" "0" "70" "17" "61995120" "61995120" "subst" "4.06095E-6" "04787" "GH1_000075" "g.61995120C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.63917760C>T" "" "VUS" "ACMG" "0001027030" "0" "50" "17" "61995274" "61995274" "subst" "0" "01804" "GH1_000076" "g.61995274A>G" "" "" "" "GH1(NM_000515.3):c.302T>C (p.(Leu101Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027031" "0" "50" "17" "61995827" "61995827" "subst" "0" "02329" "GH1_000077" "g.61995827C>T" "" "" "" "GH1(NM_000515.5):c.50G>A (p.C17Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027032" "0" "30" "17" "61995880" "61995880" "subst" "0.000312904" "01804" "GH1_000078" "g.61995880A>G" "" "" "" "GH1(NM_000515.3):c.11-14T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046662" "0" "30" "17" "61994855" "61994855" "subst" "0.000239882" "01804" "GH1_000079" "g.61994855A>G" "" "" "" "GH1(NM_000515.3):c.468T>C (p.(Asp156=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048182" "0" "10" "17" "61994845" "61994845" "subst" "8.53818E-5" "00006" "GH1_000027" "g.61994845G>A" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.63917485G>A" "" "benign" "" "0001049551" "0" "90" "17" "61995248" "61995248" "subst" "0.000113707" "00006" "GH1_000047" "g.61995248G>C" "" "{PMID:Elmas 2019:30426380}" "" "" "" "De novo" "" "" "0" "" "" "g.63917888G>C" "" "pathogenic (dominant)" "" "0001049552" "0" "90" "17" "61995248" "61995248" "subst" "0.000113707" "00006" "GH1_000047" "g.61995248G>C" "" "{PMID:Elmas 2019:30426380}" "" "" "" "De novo" "" "" "0" "" "" "g.63917888G>C" "" "pathogenic (dominant)" "" ## 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 GH1 ## Count = 86 "{{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}}" "0000222865" "00008493" "90" "176" "0" "176" "0" "c.176A>G" "r.[172_216del, 172_291del]" "p.[Glu58_Gln72del, Glu58_Ser97del]" "3" "0000562639" "00008493" "30" "615" "0" "615" "0" "c.615C>G" "r.(?)" "p.(Ile205Met)" "" "0000562640" "00008493" "50" "615" "0" "615" "0" "c.615C>G" "r.(?)" "p.(Ile205Met)" "" "0000562641" "00008493" "30" "546" "0" "546" "0" "c.546A>G" "r.(?)" "p.(Leu182=)" "" "0000562642" "00008493" "30" "481" "0" "481" "0" "c.481A>C" "r.(?)" "p.(Thr161Pro)" "" "0000562643" "00008493" "30" "456" "12" "456" "12" "c.456+12G>A" "r.(=)" "p.(=)" "" "0000562644" "00008493" "10" "447" "0" "447" "0" "c.447G>A" "r.(?)" "p.(Thr149=)" "" "0000562645" "00008493" "10" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Val136Ile)" "" "0000562646" "00008493" "10" "363" "0" "363" "0" "c.363T>A" "r.(?)" "p.(Ser121Arg)" "" "0000562647" "00008493" "50" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Val116Met)" "" "0000562648" "00008493" "30" "292" "-16" "292" "-16" "c.292-16C>G" "r.(=)" "p.(=)" "" "0000562649" "00008493" "50" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Arg90Met)" "" "0000562651" "00008493" "30" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Arg6Gln)" "" "0000562652" "00008493" "30" "16" "0" "16" "0" "c.16C>A" "r.(?)" "p.(Arg6=)" "" "0000562653" "00008493" "30" "15" "0" "15" "0" "c.15C>T" "r.(?)" "p.(Ser5=)" "" "0000562654" "00008493" "30" "7" "0" "7" "0" "c.7A>G" "r.(?)" "p.(Thr3Ala)" "" "0000658228" "00008493" "90" "291" "1" "291" "1" "c.291+1G>A" "r.spl?" "p.?" "" "0000703980" "00008493" "30" "152" "0" "152" "0" "c.152T>A" "r.(?)" "p.(Phe51Tyr)" "" "0000726606" "00008493" "30" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Ala181Thr)" "" "0000726608" "00008493" "30" "7" "0" "7" "0" "c.7A>C" "r.(?)" "p.(Thr3Pro)" "" "0000808202" "00008493" "30" "15" "0" "15" "0" "c.15C>T" "r.(?)" "p.(Ser5=)" "" "0000865411" "00008493" "30" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(Gly213=)" "" "0000865412" "00008493" "30" "633" "0" "633" "0" "c.633G>A" "r.(?)" "p.(Val211=)" "" "0000865413" "00008493" "90" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "0000865414" "00008493" "30" "597" "0" "597" "0" "c.597C>G" "r.(?)" "p.(Val199=)" "" "0000865415" "00008493" "50" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Met196Thr)" "" "0000865416" "00008493" "30" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "" "0000865417" "00008493" "30" "456" "19" "456" "19" "c.456+19G>T" "r.(=)" "p.(=)" "" "0000865418" "00008493" "10" "456" "18" "456" "18" "c.456+18G>T" "r.(=)" "p.(=)" "" "0000865419" "00008493" "30" "387" "0" "387" "0" "c.387C>T" "r.(?)" "p.(Tyr129=)" "" "0000865420" "00008493" "50" "370" "0" "370" "0" "c.370G>C" "r.(?)" "p.(Ala124Pro)" "" "0000865421" "00008493" "30" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Phe123=)" "" "0000865422" "00008493" "30" "333" "0" "333" "0" "c.333G>A" "r.(?)" "p.(Ser111=)" "" "0000865423" "00008493" "30" "325" "0" "325" "0" "c.325A>C" "r.(?)" "p.(Ile109Leu)" "" "0000865424" "00008493" "30" "292" "-15" "292" "-15" "c.292-15G>A" "r.(=)" "p.(=)" "" "0000865425" "00008493" "90" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Pro85Leu)" "" "0000865426" "00008493" "50" "253" "0" "253" "0" "c.253C>G" "r.(?)" "p.(Pro85Ala)" "" "0000865427" "00008493" "50" "217" "0" "217" "0" "c.217A>G" "r.(?)" "p.(Asn73Asp)" "" "0000865428" "00008493" "30" "172" "-15" "172" "-15" "c.172-15C>G" "r.(=)" "p.(=)" "" "0000865429" "00008493" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Asp52=)" "" "0000865430" "00008493" "30" "152" "0" "152" "0" "c.152T>A" "r.(?)" "p.(Phe51Tyr)" "" "0000865431" "00008493" "30" "150" "0" "150" "0" "c.150C>A" "r.(?)" "p.(Ala50=)" "" "0000865432" "00008493" "50" "124" "0" "124" "0" "c.124C>A" "r.(?)" "p.(Arg42Ser)" "" "0000865433" "00008493" "10" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "0000878264" "00008493" "50" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "" "0000882147" "00008493" "50" "75" "0" "75" "0" "c.75T>G" "r.(?)" "p.(Ser25Arg)" "" "0000894163" "00008493" "50" "480" "0" "480" "0" "c.480G>T" "r.(?)" "p.(Arg160=)" "" "0000894164" "00008493" "50" "466" "0" "466" "0" "c.466G>T" "r.(?)" "p.(Asp156Tyr)" "" "0000894165" "00008493" "30" "459" "0" "459" "0" "c.459G>A" "r.(?)" "p.(Arg153=)" "" "0000894166" "00008493" "90" "387" "0" "387" "0" "c.387del" "r.(?)" "p.(Tyr129*)" "" "0000894167" "00008493" "50" "328" "0" "328" "0" "c.328C>G" "r.(?)" "p.(Gln110Glu)" "" "0000894168" "00008493" "50" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Arg90Lys)" "" "0000894169" "00008493" "30" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Arg45His)" "" "0000894170" "00008493" "50" "131" "0" "131" "0" "c.131A>C" "r.(?)" "p.(His44Pro)" "" "0000894171" "00008493" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Thr7=)" "" "0000914945" "00008493" "50" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Gly130Ser)" "" "0000914946" "00008493" "30" "10" "6" "10" "6" "c.10+6C>T" "r.(=)" "p.(=)" "" "0000926621" "00008493" "50" "611" "0" "611" "0" "c.611G>T" "r.(?)" "p.(Arg204Leu)" "" "0000926622" "00008493" "50" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Pro74Leu)" "" "0000926623" "00008493" "50" "144" "0" "144" "0" "c.144G>C" "r.(?)" "p.(Gln48His)" "" "0000930869" "00008493" "50" "591" "0" "591" "0" "c.591C>A" "r.(?)" "p.(Asp197Glu)" "" "0000930870" "00008493" "30" "456" "19" "456" "19" "c.456+19G>A" "r.(=)" "p.(=)" "" "0000930871" "00008493" "50" "95" "0" "95" "0" "c.95T>C" "r.(?)" "p.(Leu32Ser)" "" "0000951011" "00008493" "50" "622" "0" "622" "0" "c.622T>C" "r.(?)" "p.(Cys208Arg)" "" "0000951012" "00008493" "50" "172" "-15" "172" "-15" "c.172-15C>T" "r.(=)" "p.(=)" "" "0000951013" "00008493" "50" "114" "0" "114" "0" "c.114C>G" "r.(?)" "p.(Asn38Lys)" "" "0000969157" "00008493" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(=)" "" "0000969158" "00008493" "50" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Arg42Cys)" "" "0000982710" "00008493" "30" "456" "17" "456" "17" "c.456+17G>T" "r.(=)" "p.(=)" "" "0000982711" "00008493" "50" "144" "0" "144" "0" "c.144G>C" "r.(?)" "p.(Gln48His)" "" "0000985240" "00008493" "70" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0001003556" "00008493" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Leu183Phe)" "" "0001003557" "00008493" "30" "219" "0" "219" "0" "c.219C>T" "r.(?)" "p.(=)" "" "0001003558" "00008493" "30" "172" "-15" "172" "-15" "c.172-15C>A" "r.(=)" "p.(=)" "" "0001015599" "00008493" "50" "479" "0" "479" "0" "c.479G>T" "r.(?)" "p.(Arg160Leu)" "" "0001015600" "00008493" "50" "476" "0" "476" "0" "c.476C>A" "r.(?)" "p.(Pro159His)" "" "0001015601" "00008493" "30" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(=)" "" "0001015602" "00008493" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Pro19Ser)" "" "0001020219" "00008493" "70" "456" "0" "456" "0" "c.456G>A" "r.spl" "p.(?,Gly152=)" "4" "0001027030" "00008493" "50" "302" "0" "302" "0" "c.302T>C" "r.(?)" "p.(Leu101Pro)" "" "0001027031" "00008493" "50" "50" "0" "50" "0" "c.50G>A" "r.(?)" "p.(Cys17Tyr)" "" "0001027032" "00008493" "30" "11" "-14" "11" "-14" "c.11-14T>C" "r.(=)" "p.(=)" "" "0001046662" "00008493" "30" "468" "0" "468" "0" "c.468T>C" "r.(?)" "p.(=)" "" "0001048182" "00008493" "10" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "" "0001049551" "00008493" "90" "328" "0" "328" "0" "c.328C>G" "r.(?)" "p.(Gln110Glu)" "" "0001049552" "00008493" "90" "328" "0" "328" "0" "c.328C>G" "r.(?)" "p.(Gln110Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000133627" "0000222865" "0000451377" "0000985240" "0000461111" "0001020219" "0000468360" "0001048182" "0000469287" "0001049551" "0000469288" "0001049552"