### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HGD) # 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}}" "HGD" "homogentisate 1,2-dioxygenase" "3" "q" "unknown" "NG_011957.1" "UD_129544870600" "" "https://www.LOVD.nl/HGD" "HGD mutation database " "1" "4892" "3081" "607474" "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/HGD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-10-24 00:00:00" "00006" "2021-05-19 12:05:57" "00000" "2025-07-08 13:22:38" ## 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}}" "00009299" "HGD" "homogentisate 1,2-dioxygenase" "001" "NM_000187.3" "" "NP_000178.2" "" "" "" "-460" "1550" "1338" "120401418" "120347015" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "01639" "AKU" "alkaptonuria (AKU)" "AR" "203500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-21 09:53:46" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HGD" "01639" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00293184" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00419518" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9026" "00431385" "" "" "" "1" "" "03676" "" "" "F" "yes" "(Egypt)" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00293184" "00198" "00419518" "00198" "00431385" "01639" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01639 ## Count = 1 "{{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}}" "0000310799" "00198" "00419518" "02300" "Familial, autosomal recessive" "22y" "" "" "" "" "" "" "" "" "" "" "metabolic abnormality" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294352" "00293184" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000420822" "00419518" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000432798" "00431385" "1" "03676" "03676" "2023-02-10 12:34:54" "" "" "SEQ" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000432798" "HGD" ## 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 = 291 "{{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}}" "0000281298" "0" "10" "3" "120389316" "120389316" "subst" "0.740689" "02325" "HGD_000113" "g.120389316T>A" "" "" "" "HGD(NM_000187.4):c.240A>T (p.Q80H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120670469T>A" "" "benign" "" "0000329574" "0" "50" "3" "120352080" "120352080" "subst" "0.000166629" "01804" "HGD_000097" "g.120352080T>C" "" "" "" "HGD(NM_000187.3):c.1102A>G (p.M368V, p.(Met368Val)), HGD(NM_000187.4):c.1102A>G (p.M368V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.120633233T>C" "" "VUS" "" "0000517475" "0" "70" "3" "120352080" "120352080" "subst" "0.000166629" "01943" "HGD_000097" "g.120352080T>C" "" "" "" "HGD(NM_000187.3):c.1102A>G (p.M368V, p.(Met368Val)), HGD(NM_000187.4):c.1102A>G (p.M368V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120633233T>C" "" "likely pathogenic" "" "0000517476" "0" "90" "3" "120352080" "120352080" "subst" "0.000166629" "02325" "HGD_000097" "g.120352080T>C" "" "" "" "HGD(NM_000187.3):c.1102A>G (p.M368V, p.(Met368Val)), HGD(NM_000187.4):c.1102A>G (p.M368V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120633233T>C" "" "pathogenic" "" "0000517477" "0" "70" "3" "120363252" "120363252" "subst" "3.66303E-5" "02327" "HGD_000074" "g.120363252G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120644405G>A" "" "likely pathogenic" "" "0000517478" "0" "70" "3" "120363266" "120363266" "subst" "8.14312E-6" "02327" "HGD_000071" "g.120363266C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120644419C>T" "" "likely pathogenic" "" "0000517479" "0" "50" "3" "120363328" "120363329" "ins" "0.000163607" "02327" "HGD_000121" "g.120363328_120363329insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120644481_120644482insT" "" "VUS" "" "0000517480" "0" "30" "3" "120363375" "120363375" "subst" "0" "02327" "HGD_000162" "g.120363375T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120644528T>C" "" "likely benign" "" "0000517481" "0" "90" "3" "120371438" "120371438" "subst" "1.62847E-5" "02327" "HGD_000024" "g.120371438C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120652591C>A" "" "pathogenic" "" "0000517482" "0" "10" "3" "120389316" "120389316" "subst" "0.740689" "02327" "HGD_000113" "g.120389316T>A" "" "" "" "HGD(NM_000187.4):c.240A>T (p.Q80H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120670469T>A" "" "benign" "" "0000608222" "0" "50" "3" "120369690" "120369690" "subst" "5.28142E-5" "02327" "HGD_000031" "g.120369690G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120650843G>A" "" "VUS" "" "0000651041" "1" "90" "3" "120360507" "120360507" "subst" "5.68685E-5" "03575" "HGD_000079" "g.120360507C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs120074174}" "Germline" "" "rs120074174" "0" "" "" "g.120641660C>T" "" "pathogenic" "" "0000654766" "0" "70" "3" "120363188" "120363188" "subst" "0.000105868" "02327" "HGD_000156" "g.120363188C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120644341C>T" "" "likely pathogenic" "" "0000654767" "0" "70" "3" "120363283" "120363283" "subst" "0" "02327" "HGD_000281" "g.120363283A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120644436A>C" "" "likely pathogenic" "" "0000688896" "0" "90" "3" "120369688" "120369688" "subst" "1.62508E-5" "02327" "HGD_000032" "g.120369688C>T" "" "" "" "HGD(NM_000187.3):c.367G>A (p.G123R), HGD(NM_000187.4):c.367G>A (p.G123R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719132" "0" "50" "3" "120369688" "120369688" "subst" "1.62508E-5" "01943" "HGD_000032" "g.120369688C>T" "" "" "" "HGD(NM_000187.3):c.367G>A (p.G123R), HGD(NM_000187.4):c.367G>A (p.G123R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786045" "0" "90" "3" "0" "0" "" "0" "00006" "HGD_000000" "g.?" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000786046" "0" "95" "3" "0" "0" "" "0" "00006" "HGD_000200" "g.?" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "ex1,2,3,4 del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000786047" "0" "95" "3" "120400958" "120400958" "subst" "0" "00006" "HGD_000235" "g.120400958T>C" "" "submitted, Dr. Alexander Kuzin, Bychkov (2021) - data and classification copied from {DB:HGD}" "" "M1V?" "" "Germline" "" "" "0" "" "" "g.120682111T>C" "" "pathogenic (recessive)" "" "0000786048" "0" "97" "3" "120400951" "120400951" "subst" "0.000365758" "00006" "HGD_000001" "g.120400951T>G" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "E3A" "" "Germline" "" "rs200412910" "0" "" "" "g.120682104T>G" "" "pathogenic (recessive)" "" "0000786049" "0" "99" "3" "120400948" "120400948" "subst" "4.06418E-6" "00006" "HGD_000003" "g.120400948A>T" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "L4*" "" "Germline" "" "rs786204422" "0" "" "" "g.120682101A>T" "" "pathogenic (recessive)" "" "0000786050" "0" "97" "3" "120400948" "120400948" "subst" "0" "00006" "HGD_000002" "g.120400948A>G" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "L4S" "" "Germline" "" "" "0" "" "" "g.120682101A>G" "" "pathogenic (recessive)" "" "0000786051" "0" "97" "3" "120396773" "120396773" "subst" "0" "00006" "HGD_000248" "g.120396773T>G" "" "submitted, Dr. Ni-Chung Lee - data and classification copied from {DB:HGD}" "" "in1 pseudoexon" "" "Germline" "" "" "0" "" "" "g.120677926T>G" "" "pathogenic (recessive)" "" "0000786052" "0" "35" "3" "120394885" "120394885" "subst" "0" "00006" "HGD_000126" "g.120394885G>C" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs1-175C>G" "" "Germline" "" "rs17140398" "0" "" "" "g.120676038G>C" "" "likely benign" "" "0000786053" "0" "99" "3" "120394711" "120394711" "subst" "2.84812E-5" "00006" "HGD_000004" "g.120394711C>T" "" "Muller (1999) - data and classification copied from {DB:HGD}" "" "ivs1-1G>A" "" "Germline" "" "rs397515347" "0" "" "" "g.120675864C>T" "" "pathogenic (recessive)" "" "0000786054" "0" "95" "3" "120394335" "120394983" "del" "0" "00006" "HGD_000164" "g.120394335_120394983del" "" "Habbal (2014) - data and classification copied from {DB:HGD}" "" "ex2 del" "" "Germline" "" "rs1553721650" "0" "" "" "g.120675488_120676136del" "" "pathogenic (recessive)" "" "0000786055" "0" "99" "3" "120394694" "120394695" "delins" "0" "00006" "HGD_000005" "g.120394694_120394695delinsAAT" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "G11fs (F10fs)" "" "Germline" "" "" "0" "" "" "g.120675847_120675848delinsAAT" "" "pathogenic (recessive)" "" "0000786056" "0" "97" "3" "120394689" "120394689" "subst" "4.06762E-6" "00006" "HGD_000167" "g.120394689C>T" "" "Usher (2015) - data and classification copied from {DB:HGD}" "" "E13K" "" "Germline" "" "" "0" "" "" "g.120675842C>T" "" "pathogenic (recessive)" "" "0000786057" "0" "97" "3" "120394674" "120394674" "subst" "0" "00006" "HGD_000168" "g.120394674C>T" "" "Usher (2015) - data and classification copied from {DB:HGD}" "" "D18N" "" "Germline" "" "" "0" "" "" "g.120675827C>T" "" "pathogenic (recessive)" "" "0000786058" "0" "95" "3" "120394674" "120394674" "subst" "0" "00006" "HGD_000194" "g.120394674C>A" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "D18Y" "" "Germline" "" "" "0" "" "" "g.120675827C>A" "" "pathogenic (recessive)" "" "0000786059" "0" "97" "3" "120394652" "120394652" "subst" "0" "00006" "HGD_000006" "g.120394652A>G" "" "Felbor (1999) - data and classification copied from {DB:HGD}" "" "L25P" "" "Germline" "" "" "0" "" "" "g.120675805A>G" "" "pathogenic (recessive)" "" "0000786060" "0" "99" "3" "120394641" "120394641" "del" "0" "00006" "HGD_000182" "g.120394641del" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "Q29fs" "" "Germline" "" "" "0" "" "" "g.120675794del" "" "pathogenic (recessive)" "" "0000786061" "0" "99" "3" "120394638" "120394638" "subst" "0" "00006" "HGD_000150" "g.120394638C>T" "" "Sakthivel (2014) - data and classification copied from {DB:HGD}" "" "ivs2+1G>A" "" "Germline" "" "" "0" "" "" "g.120675791C>T" "" "pathogenic (recessive)" "" "0000786062" "0" "99" "3" "120393870" "120394634" "del" "0" "00006" "HGD_000176" "g.120393870_120394634del" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "in2 del" "" "Germline" "" "" "0" "" "" "g.120675023_120675787del" "" "pathogenic (recessive)" "" "0000786063" "0" "35" "3" "120394604" "120394604" "subst" "0.157449" "00006" "HGD_000107" "g.120394604T>A" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "ivs2+35A>T" "" "Germline" "" "rs2733825" "0" "" "" "g.120675757T>A" "" "likely benign" "" "0000786064" "0" "35" "3" "120394521" "120394521" "subst" "0" "00006" "HGD_000127" "g.120394521T>C" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs2+118A>G" "" "Germline" "" "rs17140396" "0" "" "" "g.120675674T>C" "" "likely benign" "" "0000786065" "0" "35" "3" "120394054" "120394054" "" "0" "00006" "HGD_000108" "g.120394054A=" "" "Granadino (1997) - data and classification copied from {DB:HGD}" "" "ivs2-218A>T" "" "Germline" "" "" "0" "" "" "g.120675207A=" "" "likely benign" "" "0000786066" "0" "97" "3" "120393826" "120393826" "subst" "0" "00006" "HGD_000007" "g.120393826T>C" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "Q33R" "" "Germline" "" "" "0" "" "" "g.120674979T>C" "" "pathogenic (recessive)" "" "0000786067" "0" "99" "3" "120393805" "120393805" "subst" "0" "00006" "HGD_000160" "g.120393805T>G" "" "Nemethova (2016) - data and classification copied from {DB:HGD}" "" "Y40S" "" "Germline" "" "" "0" "" "" "g.120674958T>G" "" "pathogenic (recessive)" "" "0000786068" "0" "99" "3" "120393800" "120393800" "del" "0" "00006" "HGD_000165" "g.120393800del" "" "Li (2014) - data and classification copied from {DB:HGD}" "" "E42fs" "" "Germline" "" "" "0" "" "" "g.120674953del" "" "pathogenic (recessive)" "" "0000786069" "0" "99" "3" "120393799" "120393799" "subst" "4.47096E-5" "00006" "HGD_000008" "g.120393799T>G" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "E42A" "" "Germline" "" "rs373921680" "0" "" "" "g.120674952T>G" "" "pathogenic (recessive)" "" "0000786070" "0" "95" "3" "120393797" "120393797" "subst" "0" "00006" "HGD_000230" "g.120393797G>C" "" "submitted, Dr. Alexander Kuzin, Bychkov (2021) - data and classification copied from {DB:HGD}" "" "Q43E" "" "Germline" "" "" "0" "" "" "g.120674950G>C" "" "pathogenic (recessive)" "" "0000786071" "0" "97" "3" "120393794" "120393794" "subst" "0" "00006" "HGD_000009" "g.120393794G>A" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "L44F" "" "Germline" "" "rs1049246177" "0" "" "" "g.120674947G>A" "" "pathogenic (recessive)" "" "0000786072" "0" "95" "3" "120393793" "120393793" "subst" "0" "00006" "HGD_000226" "g.120393793A>G" "" "submitted, Dr. Alexander Kuzin, Bychkov (2021) - data and classification copied from {DB:HGD}" "" "L44P" "" "Germline" "" "" "0" "" "" "g.120674946A>G" "" "pathogenic (recessive)" "" "0000786073" "0" "97" "3" "120393784" "120393784" "subst" "0" "00006" "HGD_000010" "g.120393784G>A" "" "Zatkova (2000a) - data and classification copied from {DB:HGD}" "" "S47L" "" "Germline" "" "rs369517993" "0" "" "" "g.120674937G>A" "" "pathogenic (recessive)" "" "0000786074" "0" "97" "3" "120393767" "120393767" "subst" "4.06464E-6" "00006" "HGD_000011" "g.120393767G>A" "" "Rodriguez (2000) - data and classification copied from {DB:HGD}" "" "R53W" "" "Germline" "" "rs759435977" "0" "" "" "g.120674920G>A" "" "pathogenic (recessive)" "" "0000786075" "0" "97" "3" "120393766" "120393766" "subst" "4.06454E-5" "00006" "HGD_000152" "g.120393766C>T" "" "Nemethova (2016); Usher (2015) - data and classification copied from {DB:HGD}" "" "R53Q" "" "Germline" "" "rs200808744" "0" "" "" "g.120674919C>T" "" "pathogenic (recessive)" "" "0000786076" "0" "97" "3" "120393753" "120393753" "subst" "0" "00006" "HGD_000012" "g.120393753C>G" "" "Grasko (2009) - data and classification copied from {DB:HGD}" "" "K57N" "" "Germline" "" "" "0" "" "" "g.120674906C>G" "" "pathogenic (recessive)" "" "0000786077" "0" "95" "3" "120393750" "120393750" "subst" "0" "00006" "HGD_000227" "g.120393750T>A" "" "submitted, Dr. Alexander Kuzin - data and classification copied from {DB:HGD}" "" "R58S" "" "Germline" "" "" "0" "" "" "g.120674903T>A" "" "pathogenic (recessive)" "" "0000786078" "0" "99" "3" "120393750" "120393750" "del" "0" "00006" "HGD_000013" "g.120393750del" "" "de Bernabe (1999b) - data and classification copied from {DB:HGD}" "" "S59fs (R58fs)" "" "Germline" "" "rs1210546039" "0" "" "" "g.120674903del" "" "pathogenic (recessive)" "" "0000786079" "0" "35" "3" "120393634" "120393634" "subst" "0" "00006" "HGD_000128" "g.120393634A>T" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs3+114T>A" "" "Germline" "" "" "0" "" "" "g.120674787A>T" "" "likely benign" "" "0000786080" "0" "35" "3" "120389491" "120389491" "" "0" "00006" "HGD_000109" "g.120389491A=" "" "data and classification copied from {DB:HGD}" "" "ivs3-112C>T" "" "Germline" "" "" "0" "" "" "g.120670644A=" "" "likely benign" "" "0000786081" "0" "35" "3" "120389431" "120389431" "" "0" "00006" "HGD_000112" "g.120389431G=" "" "data and classification copied from {DB:HGD}" "" "ivs3-52A>C" "" "Germline" "" "rs376858353" "0" "" "" "g.120670584G=" "" "likely benign" "" "0000786082" "0" "35" "3" "120389429" "120389429" "subst" "0.0319808" "00006" "HGD_000111" "g.120389429G>A" "" "data and classification copied from {DB:HGD}" "" "ivs3-50C>T" "" "Germline" "" "rs145728491" "0" "" "" "g.120670582G>A" "" "likely benign" "" "0000786083" "0" "35" "3" "120389414" "120389414" "subst" "0" "00006" "HGD_000110" "g.120389414A>C" "" "data and classification copied from {DB:HGD}" "" "ivs3-35T>G" "" "Germline" "" "" "0" "" "" "g.120670567A>C" "" "likely benign" "" "0000786084" "0" "99" "3" "120389381" "120389381" "subst" "4.06779E-6" "00006" "HGD_000015" "g.120389381T>C" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "ivs3-2A>G" "" "Germline" "" "rs762524252" "0" "" "" "g.120670534T>C" "" "pathogenic (recessive)" "" "0000786085" "0" "10" "3" "0" "0" "" "0" "00006" "HGD_000115" "g.?" "" "Granadino (1997) - data and classification copied from {DB:HGD}" "" "HGO-1, D3S4496" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000786086" "0" "10" "3" "0" "0" "" "0" "00006" "HGD_000114" "g.?" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "HGO-3, D3S4556" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000786087" "0" "99" "3" "120389378" "120389378" "subst" "0" "00006" "HGD_000016" "g.120389378A>C" "" "de Bernabe (1999a) - data and classification copied from {DB:HGD}" "" "W60G" "" "Germline" "" "" "0" "" "" "g.120670531A>C" "" "pathogenic (recessive)" "" "0000786088" "0" "99" "3" "120389377" "120389377" "subst" "0" "00006" "HGD_000017" "g.120389377C>T" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "W60*" "" "Germline" "" "rs1057516467" "0" "" "" "g.120670530C>T" "" "pathogenic (recessive)" "" "0000786089" "0" "99" "3" "120389376" "120389376" "subst" "0" "00006" "HGD_000202" "g.120389376C>T" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "W60*" "" "Germline" "" "" "0" "" "" "g.120670529C>T" "" "pathogenic (recessive)" "" "0000786090" "0" "97" "3" "120389374" "120389374" "subst" "4.06676E-6" "00006" "HGD_000018" "g.120389374A>G" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "L61P" "" "Germline" "" "rs1324654414" "0" "" "" "g.120670527A>G" "" "pathogenic (recessive)" "" "0000786091" "0" "95" "3" "120389372" "120389372" "subst" "0" "00006" "HGD_000224" "g.120389372A>T" "" "submitted, Dr. Alexander Kuzin - data and classification copied from {DB:HGD}" "" "Y62N" "" "Germline" "" "" "0" "" "" "g.120670525A>T" "" "pathogenic (recessive)" "" "0000786092" "0" "99" "3" "120389369" "120389372" "dup" "0" "00006" "HGD_000175" "g.120389369_120389372dup" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "R63fs" "" "Germline" "" "" "0" "" "" "g.120670522_120670525dup" "" "pathogenic (recessive)" "" "0000786093" "0" "99" "3" "120389371" "120389371" "subst" "0" "00006" "HGD_000019" "g.120389371T>C" "" "de Bernabe (1999a) - data and classification copied from {DB:HGD}" "" "Y62C" "" "Germline" "" "" "0" "" "" "g.120670524T>C" "" "pathogenic (recessive)" "" "0000786094" "0" "97" "3" "120389367" "120389367" "subst" "0" "00006" "HGD_000239" "g.120389367C>T" "" "Kisa (2021) - data and classification copied from {DB:HGD}" "" "R63R" "" "Germline" "" "" "0" "" "" "g.120670520C>T" "" "pathogenic (recessive)" "" "0000786095" "0" "99" "3" "120389367" "120389367" "subst" "4.0663E-6" "00006" "HGD_000244" "g.120389367C>A" "" "Noorian 2018 - data and classification copied from {DB:HGD}" "" "R63S" "" "Germline" "" "rs1390061303" "0" "" "" "g.120670520C>A" "" "pathogenic (recessive)" "" "0000786096" "0" "97" "3" "120389339" "120389339" "subst" "0" "00006" "HGD_000020" "g.120389339A>G" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "F73L" "" "Germline" "" "" "0" "" "" "g.120670492A>G" "" "pathogenic (recessive)" "" "0000786097" "0" "97" "3" "120389335" "120389335" "subst" "0.000999797" "00006" "HGD_000256" "g.120389335T>A" "" "Hu (2012) - data and classification copied from {DB:HGD}" "" "E74V" "" "Germline" "" "rs141965690" "0" "" "" "g.120670488T>A" "" "pathogenic (recessive)" "" "0000786098" "0" "33" "3" "120389316" "120389316" "subst" "0.740689" "00006" "HGD_000113" "g.120389316T>A" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "H80Q" "" "Germline" "" "rs2255543" "0" "" "" "g.120670469T>A" "" "likely benign" "" "0000786099" "0" "15" "3" "120389296" "120389296" "subst" "0.000821011" "00006" "HGD_000129" "g.120389296T>G" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "E87A" "" "Germline" "" "rs35702995" "0" "" "" "g.120670449T>G" "" "benign" "" "0000786100" "0" "97" "3" "120389282" "120389282" "subst" "0" "00006" "HGD_000021" "g.120389282G>T" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "P92T" "" "Germline" "" "" "0" "" "" "g.120670435G>T" "" "pathogenic (recessive)" "" "0000786101" "0" "35" "3" "120389243" "120389243" "subst" "0.0204229" "00006" "HGD_000116" "g.120389243T>C" "" "de Bernabe (1999b) - data and classification copied from {DB:HGD}" "" "ivs4+31A>G" "" "Germline" "" "rs1800722" "0" "" "" "g.120670396T>C" "" "likely benign" "" "0000786102" "0" "35" "3" "120371643" "120371643" "" "0" "00006" "HGD_000130" "g.120371643A=" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs4-145C>T" "" "Germline" "" "" "0" "" "" "g.120652796A=" "" "likely benign" "" "0000786103" "0" "35" "3" "0" "0" "" "0" "00006" "HGD_000117" "g.?" "" "data and classification copied from {DB:HGD}" "" "ivs4-14insA" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000786104" "0" "35" "3" "120371502" "120371502" "" "0" "00006" "HGD_000118" "g.120371502G=" "" "data and classification copied from {DB:HGD}" "" "ivs4-4T>C" "" "Germline" "" "" "0" "" "" "g.120652655G=" "" "likely benign" "" "0000786105" "0" "99" "3" "0" "0" "" "0" "00006" "HGD_000197" "g.?" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "ex5,6 del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000786106" "0" "97" "3" "120371492" "120371492" "subst" "0" "00006" "HGD_000022" "g.120371492A>G" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "W97R" "" "Germline" "" "" "0" "" "" "g.120652645A>G" "" "pathogenic (recessive)" "" "0000786107" "0" "99" "3" "120371492" "120371492" "subst" "0" "00006" "HGD_000023" "g.120371492A>C" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "W97G" "" "Germline" "" "" "0" "" "" "g.120652645A>C" "" "pathogenic (recessive)" "" "0000786108" "0" "99" "3" "120371490" "120371490" "subst" "0" "00006" "HGD_000243" "g.120371490C>T" "" "clinvar database - data and classification copied from {DB:HGD}" "" "W97*" "" "Germline" "" "rs766714128" "0" "" "" "g.120652643C>T" "" "pathogenic (recessive)" "" "0000786109" "0" "99" "3" "120371490" "120371490" "subst" "0" "00006" "HGD_000177" "g.120371490C>G" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "W97C" "" "Germline" "" "" "0" "" "" "g.120652643C>G" "" "pathogenic (recessive)" "" "0000786110" "0" "99" "3" "120371482" "120371482" "subst" "0" "00006" "HGD_000220" "g.120371482A>G" "" "submitted, Dr. Andrea Zatkova - data and classification copied from {DB:HGD}" "" "F100S" "" "Germline" "" "" "0" "" "" "g.120652635A>G" "" "pathogenic (recessive)" "" "0000786111" "0" "97" "3" "120371447" "120371447" "subst" "0" "00006" "HGD_000242" "g.120371447A>C" "" "Kisa (2021) - data and classification copied from {DB:HGD}" "" "P112V" "" "Germline" "" "" "0" "" "" "g.120652600A>C" "" "pathogenic (recessive)" "" "0000786112" "0" "99" "3" "120371438" "120371438" "subst" "0" "00006" "HGD_000025" "g.120371438C>T" "" "Muller (1999) - data and classification copied from {DB:HGD}" "" "ivs5+1G>A" "" "Germline" "" "rs397515518" "0" "" "" "g.120652591C>T" "" "pathogenic (recessive)" "" "0000786113" "0" "99" "3" "120371438" "120371438" "subst" "1.62847E-5" "00006" "HGD_000024" "g.120371438C>A" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "ivs5+1G>T" "" "Germline" "" "rs397515518" "0" "" "" "g.120652591C>A" "" "pathogenic (recessive)" "" "0000786114" "0" "99" "3" "120371436" "120371436" "subst" "1.22133E-5" "00006" "HGD_000166" "g.120371436T>G" "" "Li (2014) - data and classification copied from {DB:HGD}" "" "ivs5+3A>C" "" "Germline" "" "rs1182670238" "0" "" "" "g.120652589T>G" "" "pathogenic (recessive)" "" "0000786115" "0" "35" "3" "120371414" "120371414" "" "0" "00006" "HGD_000119" "g.120371414G=" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "ivs5+25T>C" "" "Germline" "" "rs2551607" "0" "" "" "g.120652567G=" "" "likely benign" "" "0000786116" "0" "97" "3" "120369723" "120369723" "subst" "0.00109328" "00006" "HGD_000192" "g.120369723C>T" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "ivs5-11G>A" "" "Germline" "" "rs143223637" "0" "" "" "g.120650876C>T" "" "pathogenic (recessive)" "" "0000786117" "0" "97" "3" "120369712" "120369712" "subst" "8.12724E-6" "00006" "HGD_000146" "g.120369712C>G" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "G115R" "" "Germline" "" "rs755734596" "0" "" "" "g.120650865C>G" "" "pathogenic (recessive)" "" "0000786118" "0" "97" "3" "120369708" "120369708" "subst" "4.46962E-5" "00006" "HGD_000026" "g.120369708A>G" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "L116P" "" "Germline" "" "rs569846003" "0" "" "" "g.120650861A>G" "" "pathogenic (recessive)" "" "0000786119" "0" "99" "3" "120369698" "120369698" "dup" "0" "00006" "HGD_000027" "g.120369698dup" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "C120fs" "" "Germline" "" "" "0" "" "" "g.120650851dup" "" "pathogenic (recessive)" "" "0000786120" "0" "97" "3" "120369696" "120369696" "subst" "3.65657E-5" "00006" "HGD_000028" "g.120369696C>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "C120F" "" "Germline" "" "rs752153829" "0" "" "" "g.120650849C>A" "" "pathogenic (recessive)" "" "0000786121" "0" "97" "3" "120369695" "120369695" "subst" "0" "00006" "HGD_000029" "g.120369695A>C" "" "Goicoechea de Jorge (2002) - data and classification copied from {DB:HGD}" "" "C120W" "" "Germline" "" "rs149165166" "0" "" "" "g.120650848A>C" "" "pathogenic (recessive)" "" "0000786122" "0" "97" "3" "120369693" "120369693" "subst" "0" "00006" "HGD_000250" "g.120369693C>T" "" "Danda (2020) - data and classification copied from {DB:HGD}" "" "G121E" "" "Germline" "" "" "0" "" "" "g.120650846C>T" "" "pathogenic (recessive)" "" "0000786123" "0" "99" "3" "120369690" "120369690" "subst" "0" "00006" "HGD_000030" "g.120369690G>T" "" "de Bernabe (1999a) - data and classification copied from {DB:HGD}" "" "A122D" "" "Germline" "" "" "0" "" "" "g.120650843G>T" "" "pathogenic (recessive)" "" "0000786124" "0" "97" "3" "120369690" "120369690" "subst" "5.28142E-5" "00006" "HGD_000031" "g.120369690G>A" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "A122V" "" "Germline" "" "rs544956641" "0" "" "" "g.120650843G>A" "" "pathogenic (recessive)" "" "0000786125" "0" "97" "3" "120369688" "120369688" "subst" "1.62508E-5" "00006" "HGD_000032" "g.120369688C>T" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "G123R" "" "Germline" "" "rs564979861" "0" "" "" "g.120650841C>T" "" "pathogenic (recessive)" "" "0000786126" "0" "97" "3" "120369687" "120369687" "subst" "0" "00006" "HGD_000033" "g.120369687C>G" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "G123A" "" "Germline" "" "" "0" "" "" "g.120650840C>G" "" "pathogenic (recessive)" "" "0000786127" "0" "95" "3" "120369683" "120369683" "subst" "0.0233195" "00006" "HGD_000222" "g.120369683G>A" "" "submitted, Dr. Alexander Kuzin - data and classification copied from {DB:HGD}" "" "D124D" "" "Germline" "" "rs140977117" "0" "" "" "g.120650836G>A" "" "pathogenic (recessive)" "" "0000786128" "0" "99" "3" "120369679" "120369680" "del" "0" "00006" "HGD_000034" "g.120369679_120369680del" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "K126fs" "" "Germline" "" "" "0" "" "" "g.120650832_120650833del" "" "pathogenic (recessive)" "" "0000786129" "0" "97" "3" "120369648" "120369648" "subst" "0" "00006" "HGD_000035" "g.120369648A>T" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "F136Y" "" "Germline" "" "" "0" "" "" "g.120650801A>T" "" "pathogenic (recessive)" "" "0000786130" "0" "97" "3" "120369645" "120369645" "subst" "0" "00006" "HGD_000036" "g.120369645A>G" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "L137P" "" "Germline" "" "" "0" "" "" "g.120650798A>G" "" "pathogenic (recessive)" "" "0000786131" "0" "95" "3" "120369642" "120369642" "subst" "0" "00006" "HGD_000232" "g.120369642C>T" "" "submitted, Dr. Alexander Kuzin, Bychkov (2021) - data and classification copied from {DB:HGD}" "" "C138Y" "" "Germline" "" "" "0" "" "" "g.120650795C>T" "" "pathogenic (recessive)" "" "0000786132" "0" "99" "3" "120369587" "120369643" "del" "0" "00006" "HGD_000037" "g.120369587_120369643del" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "G115fs (?), c.413_434+35del57" "" "Germline" "" "rs762629587" "0" "" "" "g.120650740_120650796del" "" "pathogenic (recessive)" "" "0000786133" "0" "97" "3" "120369626" "120369626" "" "0" "00006" "HGD_000038" "g.120369626C>Y" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "E143D" "" "Germline" "" "" "0" "" "" "g.120650779C>Y" "" "pathogenic (recessive)" "" "0000786134" "0" "99" "3" "120369622" "120369622" "subst" "0" "00006" "HGD_000039" "g.120369622T>A" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "R145*" "" "Germline" "" "" "0" "" "" "g.120650775T>A" "" "pathogenic (recessive)" "" "0000786135" "0" "35" "3" "120369575" "120369575" "" "0" "00006" "HGD_000120" "g.120369575T=" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "ivs6+46C>A" "" "Germline" "" "rs3817627" "0" "" "" "g.120650728T=" "" "likely benign" "" "0000786136" "0" "95" "3" "120366753" "120366753" "subst" "0" "00006" "HGD_000155" "g.120366753A>G" "" "Nemethova (2016) - data and classification copied from {DB:HGD}" "" "F147S" "" "Germline" "" "" "0" "" "" "g.120647906A>G" "" "pathogenic (recessive)" "" "0000786137" "0" "97" "3" "120366746" "120366746" "subst" "0" "00006" "HGD_000040" "g.120366746A>T" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "N149K" "" "Germline" "" "" "0" "" "" "g.120647899A>T" "" "pathogenic (recessive)" "" "0000786138" "0" "95" "3" "120366744" "120366744" "subst" "0" "00006" "HGD_000181" "g.120366744G>A" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "S150L" "" "Germline" "" "" "0" "" "" "g.120647897G>A" "" "pathogenic (recessive)" "" "0000786139" "0" "99" "3" "120366739" "120366739" "subst" "0" "00006" "HGD_000174" "g.120366739C>T" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "G152R" "" "Germline" "" "" "0" "" "" "g.120647892C>T" "" "pathogenic (recessive)" "" "0000786140" "0" "97" "3" "120366738" "120366738" "subst" "0" "00006" "HGD_000041" "g.120366738C>G" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "G152A" "" "Germline" "" "rs1553717936" "0" "" "" "g.120647891C>G" "" "pathogenic (recessive)" "" "0000786141" "0" "99" "3" "120366739" "120366739" "dup" "0" "00006" "HGD_000042" "g.120366739dup" "" "Gehrig (1997) - data and classification copied from {DB:HGD}" "" "D153fs (G152fs)" "" "Germline" "" "rs397515346" "0" "" "" "g.120647892dup" "" "pathogenic (recessive)" "" "0000786142" "0" "99" "3" "120366736" "120366736" "subst" "0" "00006" "HGD_000205" "g.120366736C>T" "" "submitted, Dr. Jeannette Usher - data and classification copied from {DB:HGD}" "" "D153N" "" "Germline" "" "" "0" "" "" "g.120647889C>T" "" "pathogenic (recessive)" "" "0000786143" "0" "99" "3" "120366735" "120366735" "subst" "0" "00006" "HGD_000043" "g.120366735T>C" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "D153G" "" "Germline" "" "" "0" "" "" "g.120647888T>C" "" "pathogenic (recessive)" "" "0000786144" "0" "99" "3" "120366724" "120366724" "subst" "0" "00006" "HGD_000206" "g.120366724C>A" "" "submitted, Dr. Jeannette Usher - data and classification copied from {DB:HGD}" "" "V157F" "" "Germline" "" "" "0" "" "" "g.120647877C>A" "" "pathogenic (recessive)" "" "0000786145" "0" "99" "3" "120366723" "120366723" "subst" "0" "00006" "HGD_000158" "g.120366723C>G" "" "Yang (2013) - data and classification copied from {DB:HGD}" "" "ivs7+1G>C" "" "Germline" "" "" "0" "" "" "g.120647876C>G" "" "pathogenic (recessive)" "" "0000786146" "0" "99" "3" "120366722" "120366722" "subst" "1.21925E-5" "00006" "HGD_000044" "g.120366722A>G" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "ivs7+2T>C" "" "Germline" "" "rs745333667" "0" "" "" "g.120647875A>G" "" "pathogenic (recessive)" "" "0000786147" "0" "99" "3" "120366719" "120366719" "subst" "0" "00006" "HGD_000045" "g.120366719C>T" "" "Porfirio (2000) - data and classification copied from {DB:HGD}" "" "ivs7+5G>A" "" "Germline" "" "" "0" "" "" "g.120647872C>T" "" "pathogenic (recessive)" "" "0000786148" "0" "99" "3" "120366718" "120366718" "subst" "0" "00006" "HGD_000159" "g.120366718A>G" "" "Nemethova (2016) - data and classification copied from {DB:HGD}" "" "ivs7+6T>C" "" "Germline" "" "" "0" "" "" "g.120647871A>G" "" "pathogenic (recessive)" "" "0000786149" "0" "35" "3" "120366700" "120366700" "subst" "4.06511E-6" "00006" "HGD_000131" "g.120366700G>T" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs7+24C>A" "" "Germline" "" "rs756912701" "0" "" "" "g.120647853G>T" "" "likely benign" "" "0000786150" "0" "95" "3" "120365900" "120365900" "subst" "0" "00006" "HGD_000225" "g.120365900C>T" "" "submitted, Dr. Alexander Kuzin - data and classification copied from {DB:HGD}" "" "ivs7-1G>A" "" "Germline" "" "" "0" "" "" "g.120647053C>T" "" "pathogenic (recessive)" "" "0000786151" "0" "99" "3" "120365899" "120365900" "ins" "0" "00006" "HGD_000046" "g.120365899_120365900insT" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "V157fs" "" "Germline" "" "" "0" "" "" "g.120647052_120647053insT" "" "pathogenic (recessive)" "" "0000786152" "0" "97" "3" "120365875" "120365900" "del" "0" "00006" "HGD_000145" "g.120365875_120365900del" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "V157fs (?), c.470-1_494del25" "" "Germline" "" "" "0" "" "" "g.120647028_120647053del" "" "pathogenic (recessive)" "" "0000786153" "0" "97" "3" "120365896" "120365896" "subst" "0" "00006" "HGD_000047" "g.120365896G>C" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "P158R" "" "Germline" "" "" "0" "" "" "g.120647049G>C" "" "pathogenic (recessive)" "" "0000786154" "0" "97" "3" "120365896" "120365896" "subst" "2.44093E-5" "00006" "HGD_000048" "g.120365896G>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "P158L" "" "Germline" "" "rs375396766" "0" "" "" "g.120647049G>A" "" "pathogenic (recessive)" "" "0000786155" "0" "35" "3" "120365895" "120365895" "subst" "0.000231898" "00006" "HGD_000132" "g.120365895C>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "P158P" "" "Germline" "" "rs2293734" "0" "" "" "g.120647048C>A" "" "likely benign" "" "0000786156" "0" "97" "3" "120365892" "120365892" "" "0" "00006" "HGD_000049" "g.120365892C>Y" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "Q159H" "" "Germline" "" "" "0" "" "" "g.120647045C>Y" "" "pathogenic (recessive)" "" "0000786157" "0" "99" "3" "120365888" "120365888" "subst" "8.94818E-5" "00006" "HGD_000050" "g.120365888C>T" "" "Gehrig (1997) - data and classification copied from {DB:HGD}" "" "G161R" "" "Germline" "" "rs28941783" "0" "" "" "g.120647041C>T" "" "pathogenic (recessive)" "" "0000786158" "0" "97" "3" "120365869" "120365869" "subst" "0" "00006" "HGD_000161" "g.120365869G>A" "" "Nemethova (2016) - data and classification copied from {DB:HGD}" "" "T167I" "" "Germline" "" "" "0" "" "" "g.120647022G>A" "" "pathogenic (recessive)" "" "0000786159" "0" "97" "3" "120365867" "120365867" "subst" "1.62643E-5" "00006" "HGD_000051" "g.120365867C>T" "" "Higashino (1998) - data and classification copied from {DB:HGD}" "" "E168K" "" "Germline" "" "rs375283568" "0" "" "" "g.120647020C>T" "" "pathogenic (recessive)" "" "0000786160" "0" "99" "3" "120365867" "120365867" "subst" "0" "00006" "HGD_000052" "g.120365867C>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "E168*" "" "Germline" "" "" "0" "" "" "g.120647020C>A" "" "pathogenic (recessive)" "" "0000786161" "0" "97" "3" "120365865" "120365865" "subst" "8.132E-6" "00006" "HGD_000053" "g.120365865C>G" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "E168D" "" "Germline" "" "rs780173554" "0" "" "" "g.120647018C>G" "" "pathogenic (recessive)" "" "0000786162" "0" "35" "3" "120365862" "120365862" "subst" "8.13134E-6" "00006" "HGD_000144" "g.120365862A>C" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "F169L" "" "Germline" "" "rs756134838" "0" "" "" "g.120647015A>C" "" "likely benign" "" "0000786163" "0" "95" "3" "120365861" "120365861" "subst" "0" "00006" "HGD_000195" "g.120365861C>T" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "G170S" "" "Germline" "" "" "0" "" "" "g.120647014C>T" "" "pathogenic (recessive)" "" "0000786164" "0" "99" "3" "120365860" "120365860" "subst" "0" "00006" "HGD_000187" "g.120365860C>G" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "G170A" "" "Germline" "" "" "0" "" "" "g.120647013C>G" "" "pathogenic (recessive)" "" "0000786165" "0" "97" "3" "120365856" "120365856" "subst" "0" "00006" "HGD_000054" "g.120365856C>A" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "K171N" "" "Germline" "" "" "0" "" "" "g.120647009C>A" "" "pathogenic (recessive)" "" "0000786166" "0" "97" "3" "120365856" "120365856" "" "0" "00006" "HGD_000054" "g.120365856C>Y" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "K171N" "" "Germline" "" "" "0" "" "" "g.120647009C>Y" "" "pathogenic (recessive)" "" "0000786167" "0" "97" "3" "120365854" "120365854" "subst" "0" "00006" "HGD_000169" "g.120365854A>G" "" "Usher (2015) - data and classification copied from {DB:HGD}" "" "M172T" "" "Germline" "" "" "0" "" "" "g.120647007A>G" "" "pathogenic (recessive)" "" "0000786168" "0" "97" "3" "120365836" "120365836" "subst" "0" "00006" "HGD_000056" "g.120365836T>C" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "E178G" "" "Germline" "" "" "0" "" "" "g.120646989T>C" "" "pathogenic (recessive)" "" "0000786169" "0" "97" "3" "120365835" "120365835" "" "0" "00006" "HGD_000055" "g.120365835C>Y" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "E178D" "" "Germline" "" "" "0" "" "" "g.120646988C>Y" "" "pathogenic (recessive)" "" "0000786170" "0" "95" "3" "120365833" "120365833" "subst" "0" "00006" "HGD_000231" "g.120365833A>C" "" "submitted, Dr. Alexander Kuzin, Bychkov (2021) - data and classification copied from {DB:HGD}" "" "I179S" "" "Germline" "" "rs1031569954" "0" "" "" "g.120646986A>C" "" "pathogenic (recessive)" "" "0000786171" "0" "97" "3" "120365828" "120365828" "subst" "0" "00006" "HGD_000057" "g.120365828C>A" "" "Rodriguez (2000) - data and classification copied from {DB:HGD}" "" "V181F" "" "Germline" "" "" "0" "" "" "g.120646981C>A" "" "pathogenic (recessive)" "" "0000786172" "0" "97" "3" "120365820" "120365820" "subst" "4.0664E-6" "00006" "HGD_000058" "g.120365820C>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "Q183R" "" "Germline" "" "rs759615683" "0" "" "" "g.120646973C>A" "" "pathogenic (recessive)" "" "0000786173" "0" "99" "3" "120365819" "120365819" "subst" "0" "00006" "HGD_000059" "g.120365819C>T" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs8+1G>A" "" "Germline" "" "" "0" "" "" "g.120646972C>T" "" "pathogenic (recessive)" "" "0000786174" "0" "97" "3" "120365819" "120365819" "subst" "0" "00006" "HGD_000240" "g.120365819C>A" "" "Kisa (2021) - data and classification copied from {DB:HGD}" "" "ivs8+1G>T" "" "Germline" "" "" "0" "" "" "g.120646972C>A" "" "pathogenic (recessive)" "" "0000786175" "0" "35" "3" "120365789" "120365789" "subst" "0" "00006" "HGD_000106" "g.120365789G>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs8+31C>T" "" "Germline" "" "" "0" "" "" "g.120646942G>A" "" "likely benign" "" "0000786176" "0" "99" "3" "120365215" "120365215" "subst" "0" "00006" "HGD_000060" "g.120365215T>G" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "ivs8-2A>C" "" "Germline" "" "" "0" "" "" "g.120646368T>G" "" "pathogenic (recessive)" "" "0000786177" "0" "99" "3" "120365215" "120365215" "subst" "0" "00006" "HGD_000180" "g.120365215T>C" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "ivs8-2A>G" "" "Germline" "" "" "0" "" "" "g.120646368T>C" "" "pathogenic (recessive)" "" "0000786178" "0" "97" "3" "120365210" "120365210" "subst" "0" "00006" "HGD_000185" "g.120365210C>T" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "G185R" "" "Germline" "" "" "0" "" "" "g.120646363C>T" "" "pathogenic (recessive)" "" "0000786179" "0" "99" "3" "120365206" "120365206" "subst" "0" "00006" "HGD_000149" "g.120365206A>T" "" "Nemethova (2016) - data and classification copied from {DB:HGD}" "" "M186K" "" "Germline" "" "" "0" "" "" "g.120646359A>T" "" "pathogenic (recessive)" "" "0000786180" "0" "97" "3" "120365204" "120365204" "subst" "0" "00006" "HGD_000061" "g.120365204G>C" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "R187G" "" "Germline" "" "rs756255206" "0" "" "" "g.120646357G>C" "" "pathogenic (recessive)" "" "0000786181" "0" "99" "3" "120365197" "120365197" "subst" "0" "00006" "HGD_000062" "g.120365197C>A" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "S189I" "" "Germline" "" "" "0" "" "" "g.120646350C>A" "" "pathogenic (recessive)" "" "0000786182" "0" "97" "3" "120365176" "120365176" "subst" "1.62635E-5" "00006" "HGD_000249" "g.120365176G>A" "" "submitted, Dr. Ni-Chung Lee - data and classification copied from {DB:HGD}" "" "T196I" "" "Germline" "" "rs781491692" "0" "" "" "g.120646329G>A" "" "pathogenic (recessive)" "" "0000786183" "0" "99" "3" "120365176" "120365176" "del" "0" "00006" "HGD_000063" "g.120365176del" "" "Rodriguez (2000) - data and classification copied from {DB:HGD}" "" "R197fs (T196fs)" "" "Germline" "" "rs1414279737" "0" "" "" "g.120646329del" "" "pathogenic (recessive)" "" "0000786184" "0" "97" "3" "120365174" "120365174" "subst" "0" "00006" "HGD_000141" "g.120365174T>C" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "R197G" "" "Germline" "" "rs1414279737" "0" "" "" "g.120646327T>C" "" "pathogenic (recessive)" "" "0000786185" "0" "97" "3" "120365170" "120365170" "subst" "0" "00006" "HGD_000064" "g.120365170C>T" "" "Mannoni (2004) - data and classification copied from {DB:HGD}" "" "G198D" "" "Germline" "" "" "0" "" "" "g.120646323C>T" "" "pathogenic (recessive)" "" "0000786186" "0" "97" "3" "120365149" "120365149" "subst" "4.06554E-6" "00006" "HGD_000153" "g.120365149C>T" "" "Nemethova (2016) - data and classification copied from {DB:HGD}" "" "G205D" "" "Germline" "" "rs754802510" "0" "" "" "g.120646302C>T" "" "pathogenic (recessive)" "" "0000786187" "0" "99" "3" "120365149" "120365149" "subst" "4.06554E-6" "00006" "HGD_000186" "g.120365149C>A" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "G205V" "" "Germline" "" "rs754802510" "0" "" "" "g.120646302C>A" "" "pathogenic (recessive)" "" "0000786188" "0" "99" "3" "120365116" "120365116" "subst" "4.06478E-6" "00006" "HGD_000065" "g.120365116A>G" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "I216T" "" "Germline" "" "rs767201131" "0" "" "" "g.120646269A>G" "" "pathogenic (recessive)" "" "0000786189" "0" "97" "3" "120365114" "120365114" "subst" "0" "00006" "HGD_000066" "g.120365114C>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "G217W" "" "Germline" "" "" "0" "" "" "g.120646267C>A" "" "pathogenic (recessive)" "" "0000786190" "0" "97" "3" "120365113" "120365113" "subst" "0" "00006" "HGD_000255" "g.120365113C>T" "" "Bychkov (2021) - data and classification copied from {DB:HGD}" "" "ivs9+1G>A" "" "Germline" "" "" "0" "" "" "g.120646266C>T" "" "pathogenic (recessive)" "" "0000786191" "0" "99" "3" "120365112" "120365112" "subst" "0" "00006" "HGD_000211" "g.120365112A>G" "" "submitted, Dr. Andrea Zatkova - data and classification copied from {DB:HGD}" "" "ivs9+2T>C" "" "Germline" "" "rs1057516307" "0" "" "" "g.120646265A>G" "" "pathogenic (recessive)" "" "0000786192" "0" "35" "3" "120365083" "120365083" "subst" "0.00195279" "00006" "HGD_000189" "g.120365083C>T" "" "Usher (2015) - data and classification copied from {DB:HGD}" "" "ivs9+31G>A" "" "Germline" "" "rs376223608" "0" "" "" "g.120646236C>T" "" "likely benign" "" "0000786193" "0" "97" "3" "120365075" "120365075" "subst" "0" "00006" "HGD_000190" "g.120365075A>C" "" "Usher (2015) - data and classification copied from {DB:HGD}" "" "ivs9+39T>G" "" "Germline" "" "" "0" "" "" "g.120646228A>C" "" "pathogenic (recessive)" "" "0000786194" "0" "35" "3" "120365010" "120365010" "subst" "0" "00006" "HGD_000133" "g.120365010G>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs9+104C>T" "" "Germline" "" "rs1862942" "0" "" "" "g.120646163G>A" "" "likely benign" "" "0000786195" "0" "35" "3" "120363376" "120363376" "subst" "0" "00006" "HGD_000134" "g.120363376T>C" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs9-86A>G" "" "Germline" "" "rs2075504" "0" "" "" "g.120644529T>C" "" "likely benign" "" "0000786196" "0" "97" "3" "120363375" "120363375" "subst" "0" "00006" "HGD_000162" "g.120363375T>C" "" "Nemethova (2016); Ascher (2019) - data and classification copied from {DB:HGD}" "" "ivs9-85A>G" "" "Germline" "" "rs2075504" "0" "" "" "g.120644528T>C" "" "pathogenic (recessive)" "" "0000786197" "0" "35" "3" "120363346" "120363346" "subst" "0" "00006" "HGD_000067" "g.120363346C>T" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "ivs9-56G>A" "" "Germline" "" "" "0" "" "" "g.120644499C>T" "" "likely benign" "" "0000786198" "0" "10" "3" "0" "0" "" "0" "00006" "HGD_000121" "g.?" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "ivs9-38insA" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000786199" "0" "35" "3" "120363307" "120363307" "subst" "0" "00006" "HGD_000068" "g.120363307C>T" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "ivs9-17G>A" "" "Germline" "" "" "0" "" "" "g.120644460C>T" "" "likely benign" "" "0000786200" "0" "97" "3" "120363303" "120363303" "subst" "0" "00006" "HGD_000193" "g.120363303A>C" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "ivs9-13T>G" "" "Germline" "" "" "0" "" "" "g.120644456A>C" "" "pathogenic (recessive)" "" "0000786201" "0" "99" "3" "120363291" "120363291" "del" "0" "00006" "HGD_000069" "g.120363291del" "" "Ladjouze-Rezig (2006) - data and classification copied from {DB:HGD}" "" "A218fs (G217fs)" "" "Germline" "" "rs916645169" "0" "" "" "g.120644444del" "" "pathogenic (recessive)" "" "0000786202" "0" "97" "3" "120363284" "120363284" "subst" "0" "00006" "HGD_000070" "g.120363284T>C" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "N219S" "" "Germline" "" "" "0" "" "" "g.120644437T>C" "" "pathogenic (recessive)" "" "0000786203" "0" "97" "3" "120363286" "120363287" "ins" "0" "00006" "HGD_000203" "g.120363286_120363287insATTTTG" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "A218_N219insKI" "" "Germline" "" "" "0" "" "" "g.120644439_120644440insATTTTG" "" "pathogenic (recessive)" "" "0000786204" "0" "97" "3" "120363281" "120363281" "subst" "0" "00006" "HGD_000210" "g.120363281C>A" "" "submitted, Dr. Jeannette Usher - data and classification copied from {DB:HGD}" "" "G220V" "" "Germline" "" "" "0" "" "" "g.120644434C>A" "" "pathogenic (recessive)" "" "0000786205" "0" "97" "3" "120363267" "120363277" "dup" "0" "00006" "HGD_000171" "g.120363267_120363277dup" "" "Usher (2015) - data and classification copied from {DB:HGD}" "" "D226fs" "" "Germline" "" "" "0" "" "" "g.120644420_120644430dup" "" "pathogenic (recessive)" "" "0000786206" "0" "95" "3" "120363275" "120363275" "subst" "0" "00006" "HGD_000233" "g.120363275G>T" "" "submitted, Dr. Alexander Kuzin, Bychkov (2021) - data and classification copied from {DB:HGD}" "" "A222D" "" "Germline" "" "" "0" "" "" "g.120644428G>T" "" "pathogenic (recessive)" "" "0000786207" "0" "97" "3" "120363267" "120363267" "subst" "1.22139E-5" "00006" "HGD_000254" "g.120363267G>A" "" "Mwafi 2021 - data and classification copied from {DB:HGD}" "" "R225C" "" "Germline" "" "rs756789146" "0" "" "" "g.120644420G>A" "" "pathogenic (recessive)" "" "0000786208" "0" "99" "3" "120363266" "120363266" "subst" "8.14312E-6" "00006" "HGD_000071" "g.120363266C>T" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "R225H" "" "Germline" "" "rs562853291" "0" "" "" "g.120644419C>T" "" "pathogenic (recessive)" "" "0000786209" "0" "97" "3" "120363266" "120363266" "subst" "0" "00006" "HGD_000170" "g.120363266C>G" "" "Usher (2015) - data and classification copied from {DB:HGD}" "" "R225P" "" "Germline" "" "rs562853291" "0" "" "" "g.120644419C>G" "" "pathogenic (recessive)" "" "0000786210" "0" "99" "3" "120363266" "120363266" "subst" "0" "00006" "HGD_000072" "g.120363266C>A" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "R225L" "" "Germline" "" "" "0" "" "" "g.120644419C>A" "" "pathogenic (recessive)" "" "0000786211" "0" "97" "3" "120363261" "120363261" "subst" "0" "00006" "HGD_000237" "g.120363261A>G" "" "Kilavuz 2018 - data and classification copied from {DB:HGD}" "" "F227L" "" "Germline" "" "" "0" "" "" "g.120644414A>G" "" "pathogenic (recessive)" "" "0000786212" "0" "99" "3" "120363260" "120363260" "subst" "0" "00006" "HGD_000073" "g.120363260A>G" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "F227S" "" "Germline" "" "" "0" "" "" "g.120644413A>G" "" "pathogenic (recessive)" "" "0000786213" "0" "99" "3" "120363252" "120363252" "subst" "0" "00006" "HGD_000075" "g.120363252G>T" "" "de Bernabe (1999a) - data and classification copied from {DB:HGD}" "" "P230T" "" "Germline" "" "" "0" "" "" "g.120644405G>T" "" "pathogenic (recessive)" "" "0000786214" "0" "99" "3" "120363252" "120363252" "subst" "3.66303E-5" "00006" "HGD_000074" "g.120363252G>A" "" "Fernandez Canon (1996) - data and classification copied from {DB:HGD}" "" "P230S" "" "Germline" "" "rs28942100" "0" "" "" "g.120644405G>A" "" "pathogenic (recessive)" "" "0000786215" "0" "97" "3" "120363207" "120363207" "subst" "0" "00006" "HGD_000172" "g.120363207C>A" "" "Usher (2015) - data and classification copied from {DB:HGD}" "" "V245F" "" "Germline" "" "" "0" "" "" "g.120644360C>A" "" "pathogenic (recessive)" "" "0000786216" "0" "97" "3" "120363198" "120363198" "subst" "0" "00006" "HGD_000151" "g.120363198T>C" "" "Porfirio (2000) - data and classification copied from {DB:HGD}" "" "K248E" "" "Germline" "" "" "0" "" "" "g.120644351T>C" "" "pathogenic (recessive)" "" "0000786217" "0" "95" "3" "120363188" "120363188" "subst" "0.000105868" "00006" "HGD_000156" "g.120363188C>T" "" "Nemethova (2016) - data and classification copied from {DB:HGD}" "" "G251D" "" "Germline" "" "rs781011621" "0" "" "" "g.120644341C>T" "" "pathogenic (recessive)" "" "0000786218" "0" "95" "3" "120363187" "120363187" "subst" "0" "00006" "HGD_000221" "g.120363187G>A" "" "submitted, Dr. Alexander Kuzin, Bychkov (2021) - data and classification copied from {DB:HGD}" "" "G251G" "" "Germline" "" "" "0" "" "" "g.120644340G>A" "" "pathogenic (recessive)" "" "0000786219" "0" "97" "3" "120363167" "120363167" "subst" "4.07544E-6" "00006" "HGD_000077" "g.120363167T>G" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "Q258P" "" "Germline" "" "" "0" "" "" "g.120644320T>G" "" "pathogenic (recessive)" "" "0000786220" "0" "99" "3" "120363165" "120363165" "subst" "0" "00006" "HGD_000188" "g.120363165C>A" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "ivs10+1G>T" "" "Germline" "" "" "0" "" "" "g.120644318C>A" "" "pathogenic (recessive)" "" "0000786221" "0" "97" "3" "120360556" "120360556" "subst" "0" "00006" "HGD_000253" "g.120360556A>T" "" "Danda (2020) - data and classification copied from {DB:HGD}" "" "ivs10-16T>A" "" "Germline" "" "rs995182027" "0" "" "" "g.120641709A>T" "" "pathogenic (recessive)" "" "0000786222" "0" "95" "3" "120360524" "120360524" "subst" "8.12447E-6" "00006" "HGD_000229" "g.120360524T>C" "" "submitted, Dr. Alexander Kuzin - data and classification copied from {DB:HGD}" "" "N264S" "" "Germline" "" "rs1469714335" "0" "" "" "g.120641677T>C" "" "pathogenic (recessive)" "" "0000786223" "0" "95" "3" "0" "0" "" "0" "00006" "HGD_000213" "g.?" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "ex11 del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000786224" "0" "97" "3" "120360528" "120360528" "subst" "0" "00006" "HGD_000209" "g.120360528A>G" "" "submitted, Dr. Jeannette Usher - data and classification copied from {DB:HGD}" "" "F263L" "" "Germline" "" "" "0" "" "" "g.120641681A>G" "" "pathogenic (recessive)" "" "0000786225" "0" "99" "3" "120360515" "120360515" "subst" "0" "00006" "HGD_000179" "g.120360515G>A" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "A267V" "" "Germline" "" "" "0" "" "" "g.120641668G>A" "" "pathogenic (recessive)" "" "0000786226" "0" "97" "3" "120360509" "120360509" "subst" "4.06207E-6" "00006" "HGD_000078" "g.120360509T>C" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "H269R" "" "Germline" "" "rs756522409" "0" "" "" "g.120641662T>C" "" "pathogenic (recessive)" "" "0000786227" "0" "97" "3" "120360507" "120360507" "subst" "5.68685E-5" "00006" "HGD_000079" "g.120360507C>T" "" "Muller (1999) - data and classification copied from {DB:HGD}" "" "G270R" "" "Germline" "" "rs120074174" "0" "" "" "g.120641660C>T" "" "pathogenic (recessive)" "" "0000786228" "0" "97" "3" "120360494" "120360494" "subst" "4.06217E-6" "00006" "HGD_000105" "g.120360494G>A" "" "Gucev (2011) - data and classification copied from {DB:HGD}" "" "P274L" "" "Germline" "" "rs1397264922" "0" "" "" "g.120641647G>A" "" "pathogenic (recessive)" "" "0000786229" "0" "97" "3" "120360487" "120360487" "subst" "0" "00006" "HGD_000142" "g.120360487C>G" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "K276N" "" "Germline" "" "" "0" "" "" "g.120641640C>G" "" "pathogenic (recessive)" "" "0000786230" "0" "15" "3" "120360483" "120360483" "subst" "4.46846E-5" "00006" "HGD_000123" "g.120360483T>C" "" "data and classification copied from {DB:HGD}" "" "N278D" "" "Germline" "" "rs370920635" "0" "" "" "g.120641636T>C" "" "benign" "" "0000786231" "0" "99" "3" "120360455" "120360455" "subst" "0" "00006" "HGD_000080" "g.120360455G>T" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "S287*" "" "Germline" "" "" "0" "" "" "g.120641608G>T" "" "pathogenic (recessive)" "" "0000786232" "0" "99" "3" "120360442" "120360442" "subst" "8.12612E-6" "00006" "HGD_000081" "g.120360442G>T" "" "de Bernabe (1999a) - data and classification copied from {DB:HGD}" "" "D291E" "" "Germline" "" "rs754428438" "0" "" "" "g.120641595G>T" "" "pathogenic (recessive)" "" "0000786233" "0" "97" "3" "120360440" "120360440" "subst" "0" "00006" "HGD_000082" "g.120360440T>C" "" "Rodriguez (2000) - data and classification copied from {DB:HGD}" "" "H292R" "" "Germline" "" "" "0" "" "" "g.120641593T>C" "" "pathogenic (recessive)" "" "0000786234" "0" "35" "3" "120360418" "120360418" "subst" "0.0373577" "00006" "HGD_000122" "g.120360418T>C" "" "de Bernabe (1999b) - data and classification copied from {DB:HGD}" "" "ivs11+18A>G" "" "Germline" "" "rs1800700" "0" "" "" "g.120641571T>C" "" "likely benign" "" "0000786235" "0" "99" "3" "120357409" "120357409" "subst" "0" "00006" "HGD_000083" "g.120357409A>C" "" "Fernandez Canon (1996) - data and classification copied from {DB:HGD}" "" "V300G" "" "Germline" "" "rs120074170" "0" "" "" "g.120638562A>C" "" "pathogenic (recessive)" "" "0000786236" "0" "97" "3" "120357394" "120357394" "subst" "0" "00006" "HGD_000084" "g.120357394G>A" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "S305F" "" "Germline" "" "" "0" "" "" "g.120638547G>A" "" "pathogenic (recessive)" "" "0000786237" "0" "95" "3" "120357382" "120357382" "subst" "0" "00006" "HGD_000162" "g.120357382C>A" "" "Nemethova (2016) - data and classification copied from {DB:HGD}" "" "G309V" "" "Germline" "" "" "0" "" "" "g.120638535C>A" "" "pathogenic (recessive)" "" "0000786238" "0" "97" "3" "120357362" "120357362" "subst" "0" "00006" "HGD_000238" "g.120357362C>T" "" "Akbaba 2020 - data and classification copied from {DB:HGD}" "" "V316I" "" "Germline" "" "" "0" "" "" "g.120638515C>T" "" "pathogenic (recessive)" "" "0000786239" "0" "99" "3" "120357347" "120357347" "subst" "0" "00006" "HGD_000085" "g.120357347G>A" "" "Rodriguez (2000) - data and classification copied from {DB:HGD}" "" "R321*" "" "Germline" "" "" "0" "" "" "g.120638500G>A" "" "pathogenic (recessive)" "" "0000786240" "0" "97" "3" "120357346" "120357346" "subst" "2.03262E-5" "00006" "HGD_000086" "g.120357346C>T" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "R321Q" "" "Germline" "" "rs774374625" "0" "" "" "g.120638499C>T" "" "pathogenic (recessive)" "" "0000786241" "0" "97" "3" "120357344" "120357344" "subst" "0" "00006" "HGD_000087" "g.120357344A>G" "" "Rodriguez (2000) - data and classification copied from {DB:HGD}" "" "W322R" "" "Germline" "" "" "0" "" "" "g.120638497A>G" "" "pathogenic (recessive)" "" "0000786242" "0" "99" "3" "120357343" "120357343" "dup" "0" "00006" "HGD_000139" "g.120357343dup" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "V324fs" "" "Germline" "" "rs34214309" "0" "" "" "g.120638496dup" "" "pathogenic (recessive)" "" "0000786243" "0" "97" "3" "120357322" "120357322" "subst" "0" "00006" "HGD_000157" "g.120357322A>C" "" "Yang (2013) - data and classification copied from {DB:HGD}" "" "F329C" "" "Germline" "" "" "0" "" "" "g.120638475A>C" "" "pathogenic (recessive)" "" "0000786244" "0" "95" "3" "120357318" "120357318" "subst" "0" "00006" "HGD_000191" "g.120357318C>G" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "R330S" "" "Germline" "" "" "0" "" "" "g.120638471C>G" "" "pathogenic (recessive)" "" "0000786245" "0" "99" "3" "120357318" "120357318" "subst" "2.84486E-5" "00006" "HGD_000088" "g.120357318C>A" "" "de Bernabe (1999b) - data and classification copied from {DB:HGD}" "" "R330S" "" "Germline" "" "rs120074171" "0" "" "" "g.120638471C>A" "" "pathogenic (recessive)" "" "0000786246" "0" "99" "3" "120357313" "120357313" "subst" "0" "00006" "HGD_000184" "g.120357313G>C" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "P332R" "" "Germline" "" "" "0" "" "" "g.120638466G>C" "" "pathogenic (recessive)" "" "0000786247" "0" "99" "3" "120357300" "120357300" "subst" "4.06412E-6" "00006" "HGD_000089" "g.120357300A>T" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs12+2T>A" "" "Germline" "" "rs1320184173" "0" "" "" "g.120638453A>T" "" "pathogenic (recessive)" "" "0000786248" "0" "99" "3" "120357296" "120357296" "subst" "0" "00006" "HGD_000212" "g.120357296A>G" "" "Cho a Kim 2018 - data and classification copied from {DB:HGD}" "" "ivs12+6T>C" "" "Germline" "" "" "0" "" "" "g.120638449A>G" "" "pathogenic (recessive)" "" "0000786249" "0" "35" "3" "120352345" "120352345" "subst" "0" "00006" "HGD_000135" "g.120352345T>C" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs12-170A>G" "" "Germline" "" "" "0" "" "" "g.120633498T>C" "" "likely benign" "" "0000786250" "0" "99" "3" "120352177" "120352177" "subst" "0" "00006" "HGD_000090" "g.120352177T>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs12-2A>T" "" "Germline" "" "rs1261269370" "0" "" "" "g.120633330T>A" "" "pathogenic (recessive)" "" "0000786251" "0" "35" "3" "0" "0" "" "0" "00006" "HGD_000124" "g.?" "" "Granadino (1997) - data and classification copied from {DB:HGD}" "" "HGO-2, D3S4497" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000786252" "0" "95" "3" "120350874" "120353885" "del" "0" "00006" "HGD_000196" "g.120350874_120353885del" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "ex13 del" "" "Germline" "" "" "0" "" "" "g.120632027_120635038del" "" "pathogenic (recessive)" "" "0000786253" "0" "97" "3" "120352175" "120352175" "subst" "0" "00006" "HGD_000236" "g.120352175C>T" "" "Kilavuz 2018 - data and classification copied from {DB:HGD}" "" "R336K" "" "Germline" "" "" "0" "" "" "g.120633328C>T" "" "pathogenic (recessive)" "" "0000786254" "0" "99" "3" "120352175" "120352175" "subst" "0" "00006" "HGD_000198" "g.120352175C>G" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "R336T" "" "Germline" "" "" "0" "" "" "g.120633328C>G" "" "pathogenic (recessive)" "" "0000786255" "0" "99" "3" "120352176" "120352176" "dup" "0" "00006" "HGD_000140" "g.120352176dup" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "N337fs" "" "Germline" "" "rs35952153" "0" "" "" "g.120633329dup" "" "pathogenic (recessive)" "" "0000786256" "0" "97" "3" "120352173" "120352173" "subst" "0" "00006" "HGD_000173" "g.120352173T>C" "" "Usher (2015) - data and classification copied from {DB:HGD}" "" "N337D" "" "Germline" "" "" "0" "" "" "g.120633326T>C" "" "pathogenic (recessive)" "" "0000786257" "0" "99" "3" "120352166" "120352166" "del" "0" "00006" "HGD_000091" "g.120352166del" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "M339fs" "" "Germline" "" "" "0" "" "" "g.120633319del" "" "pathogenic (recessive)" "" "0000786258" "0" "99" "3" "120352163" "120352165" "delins" "0" "00006" "HGD_000092" "g.120352163_120352165delinsTA" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "M339fs" "" "Germline" "" "" "0" "" "" "g.120633316_120633318delinsTA" "" "pathogenic (recessive)" "" "0000786259" "0" "97" "3" "120352163" "120352163" "subst" "0" "00006" "HGD_000251" "g.120352163C>A" "" "Danda (2020) - data and classification copied from {DB:HGD}" "" "S340I" "" "Germline" "" "" "0" "" "" "g.120633316C>A" "" "pathogenic (recessive)" "" "0000786260" "0" "97" "3" "120352153" "120352153" "del" "0" "00006" "HGD_000245" "g.120352153del" "" "submitted, Dr. Ni-Chung Lee - data and classification copied from {DB:HGD}" "" "G344fs" "" "Germline" "" "rs1295089623" "0" "" "" "g.120633306del" "" "pathogenic (recessive)" "" "0000786261" "0" "99" "3" "120352148" "120352148" "subst" "0" "00006" "HGD_000207" "g.120352148A>C" "" "submitted, Dr. Jeannette Usher - data and classification copied from {DB:HGD}" "" "L345R" "" "Germline" "" "" "0" "" "" "g.120633301A>C" "" "pathogenic (recessive)" "" "0000786262" "0" "99" "3" "120352145" "120352145" "subst" "8.1283E-6" "00006" "HGD_000183" "g.120352145A>G" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "I346T" "" "Germline" "" "rs1299204471" "0" "" "" "g.120633298A>G" "" "pathogenic (recessive)" "" "0000786263" "0" "97" "3" "120352143" "120352143" "subst" "0" "00006" "HGD_000252" "g.120352143G>A" "" "Danda (2020) - data and classification copied from {DB:HGD}" "" "R347*" "" "Germline" "" "rs781011621" "0" "" "" "g.120633296G>A" "" "pathogenic (recessive)" "" "0000786264" "0" "95" "3" "120352142" "120352142" "subst" "0" "00006" "HGD_000199" "g.120352142C>G" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "R347P" "" "Germline" "" "" "0" "" "" "g.120633295C>G" "" "pathogenic (recessive)" "" "0000786265" "0" "99" "3" "120352133" "120352133" "subst" "0" "00006" "HGD_000201" "g.120352133T>C" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "Y350C" "" "Germline" "" "" "0" "" "" "g.120633286T>C" "" "pathogenic (recessive)" "" "0000786266" "0" "97" "3" "120352125" "120352125" "subst" "0" "00006" "HGD_000154" "g.120352125T>G" "" "Nemethova (2016) - data and classification copied from {DB:HGD}" "" "K353Q" "" "Germline" "" "" "0" "" "" "g.120633278T>G" "" "pathogenic (recessive)" "" "0000786267" "0" "97" "3" "120352107" "120352107" "subst" "0" "00006" "HGD_000093" "g.120352107G>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "P359L" "" "Germline" "" "rs764037565" "0" "" "" "g.120633260G>A" "" "pathogenic (recessive)" "" "0000786268" "0" "97" "3" "120352104" "120352104" "subst" "1.62541E-5" "00006" "HGD_000095" "g.120352104C>G" "" "Porfirio (2000) - data and classification copied from {DB:HGD}" "" "G360R" "" "Germline" "" "rs368717991" "0" "" "" "g.120633257C>G" "" "pathogenic (recessive)" "" "0000786269" "0" "97" "3" "120352103" "120352103" "subst" "0" "00006" "HGD_000094" "g.120352103C>G" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "G360A" "" "Germline" "" "" "0" "" "" "g.120633256C>G" "" "pathogenic (recessive)" "" "0000786270" "0" "97" "3" "120352101" "120352101" "subst" "4.06372E-6" "00006" "HGD_000143" "g.120352101C>T" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "G361R" "" "Germline" "" "rs765219004" "0" "" "" "g.120633254C>T" "" "pathogenic (recessive)" "" "0000786271" "0" "97" "3" "120352098" "120352098" "subst" "0" "00006" "HGD_000246" "g.120352098C>T" "" "submitted, Dr. Ni-Chung Lee - data and classification copied from {DB:HGD}" "" "G362R" "" "Germline" "" "" "0" "" "" "g.120633251C>T" "" "pathogenic (recessive)" "" "0000786272" "0" "97" "3" "120352097" "120352097" "subst" "0" "00006" "HGD_000096" "g.120352097C>T" "" "Phornphutkul (2002) - data and classification copied from {DB:HGD}" "" "G362E" "" "Germline" "" "" "0" "" "" "g.120633250C>T" "" "pathogenic (recessive)" "" "0000786273" "0" "97" "3" "120352082" "120352087" "dup" "0" "00006" "HGD_000257" "g.120352082_120352087dup" "" "Hu (2012) - data and classification copied from {DB:HGD}" "" "S366_T367dup" "" "Germline" "" "" "0" "" "" "g.120633235_120633240dup" "" "pathogenic (recessive)" "" "0000786274" "0" "99" "3" "120352080" "120352080" "subst" "0.000166629" "00006" "HGD_000097" "g.120352080T>C" "" "de Bernabe (1998) - data and classification copied from {DB:HGD}" "" "M368V" "" "Germline" "" "rs120074173" "0" "" "" "g.120633233T>C" "" "pathogenic (recessive)" "" "0000786275" "0" "99" "3" "120352076" "120352076" "dup" "0" "00006" "HGD_000098" "g.120352076dup" "" "Muller (1999) - data and classification copied from {DB:HGD}" "" "H371fs (P370fs)" "" "Germline" "" "rs120074172" "0" "" "" "g.120633229dup" "" "pathogenic (recessive)" "" "0000786276" "0" "99" "3" "120352070" "120352070" "subst" "3.25166E-5" "00006" "HGD_000099" "g.120352070T>C" "" "de Bernabe (1999b) - data and classification copied from {DB:HGD}" "" "H371R" "" "Germline" "" "rs120074172" "0" "" "" "g.120633223T>C" "" "pathogenic (recessive)" "" "0000786277" "0" "95" "3" "120352068" "120352068" "subst" "0" "00006" "HGD_000234" "g.120352068C>T" "" "submitted, Dr. Alexander Kuzin, Bychkov (2021) - data and classification copied from {DB:HGD}" "" "G372R" "" "Germline" "" "" "0" "" "" "g.120633221C>T" "" "pathogenic (recessive)" "" "0000786278" "0" "99" "3" "120352065" "120352067" "del" "0" "00006" "HGD_000178" "g.120352065_120352067del" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "G372_P373delinsAla" "" "Germline" "" "" "0" "" "" "g.120633218_120633220del" "" "pathogenic (recessive)" "" "0000786279" "0" "97" "3" "120352064" "120352064" "subst" "0" "00006" "HGD_000100" "g.120352064G>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "P373L" "" "Germline" "" "rs138558042" "0" "" "" "g.120633217G>A" "" "pathogenic (recessive)" "" "0000786280" "0" "97" "3" "120352062" "120352062" "subst" "0" "00006" "HGD_000148" "g.120352062C>G" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "D374H" "" "Germline" "" "rs981454067" "0" "" "" "g.120633215C>G" "" "pathogenic (recessive)" "" "0000786281" "0" "97" "3" "120352024" "120352027" "del" "0" "00006" "HGD_000247" "g.120352024_120352027del" "" "submitted, Dr. Ni-Chung Lee - data and classification copied from {DB:HGD}" "" "L386fs" "" "Germline" "" "rs772802378" "0" "" "" "g.120633177_120633180del" "" "pathogenic (recessive)" "" "0000786282" "0" "97" "3" "120351993" "120351993" "subst" "4.07451E-6" "00006" "HGD_000241" "g.120351993C>T" "" "Kisa (2021) - data and classification copied from {DB:HGD}" "" "ivs13+1G>A" "" "Germline" "" "" "0" "" "" "g.120633146C>T" "" "pathogenic (recessive)" "" "0000786283" "0" "99" "3" "120351993" "120351993" "subst" "1.62981E-5" "00006" "HGD_000101" "g.120351993C>A" "" "Rodriguez (2000) - data and classification copied from {DB:HGD}" "" "ivs13+1G>T" "" "Germline" "" "rs760206323" "0" "" "" "g.120633146C>A" "" "pathogenic (recessive)" "" "0000786284" "0" "95" "3" "120351986" "120351986" "subst" "0" "00006" "HGD_000228" "g.120351986A>T" "" "submitted, Dr. Alexander Kuzin - data and classification copied from {DB:HGD}" "" "ivs13+8T>A" "" "Germline" "" "" "0" "" "" "g.120633139A>T" "" "pathogenic (recessive)" "" "0000786285" "0" "35" "3" "120351943" "120351943" "subst" "0" "00006" "HGD_000125" "g.120351943T>C" "" "data and classification copied from {DB:HGD}" "" "ivs13+51A>G" "" "Germline" "" "rs112229599" "0" "" "" "g.120633096T>C" "" "likely benign" "" "0000786286" "0" "35" "3" "120351905" "120351905" "subst" "0" "00006" "HGD_000136" "g.120351905G>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs13+89C>T" "" "Germline" "" "" "0" "" "" "g.120633058G>A" "" "likely benign" "" "0000786287" "0" "35" "3" "120351852" "120351852" "subst" "0" "00006" "HGD_000137" "g.120351852C>A" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs13+142G>T" "" "Germline" "" "rs61799339" "0" "" "" "g.120633005C>A" "" "likely benign" "" "0000786288" "0" "35" "3" "120351791" "120351791" "subst" "0" "00006" "HGD_000138" "g.120351791C>T" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "ivs13+203G>A" "" "Germline" "" "rs804974" "0" "" "" "g.120632944C>T" "" "likely benign" "" "0000786289" "0" "95" "3" "120347317" "120347417" "del" "0" "00006" "HGD_000204" "g.120347317_120347417del" "" "Ascher (2019) - data and classification copied from {DB:HGD}" "" "in13ex14 del" "" "Germline" "" "" "0" "" "" "g.120628470_120628570del" "" "pathogenic (recessive)" "" "0000786290" "0" "95" "3" "120347374" "120347374" "subst" "0.0231815" "00006" "HGD_000223" "g.120347374T>G" "" "submitted, Dr. Alexander Kuzin - data and classification copied from {DB:HGD}" "" "A397A" "" "Germline" "" "rs137923025" "0" "" "" "g.120628527T>G" "" "pathogenic (recessive)" "" "0000786291" "0" "97" "3" "120347364" "120347364" "subst" "0" "00006" "HGD_000102" "g.120347364C>G" "" "Mannoni (2004) - data and classification copied from {DB:HGD}" "" "E401Q" "" "Germline" "" "rs767159114" "0" "" "" "g.120628517C>G" "" "pathogenic (recessive)" "" "0000786292" "0" "97" "3" "120347344" "120347344" "subst" "0.00426616" "00006" "HGD_000103" "g.120347344C>T" "" "Ladjouze-Rezig (2006) - data and classification copied from {DB:HGD}" "" "A407A" "" "Germline" "" "rs146206905" "0" "" "" "g.120628497C>T" "" "pathogenic (recessive)" "" "0000786293" "0" "97" "3" "120347273" "120347283" "del" "0" "00006" "HGD_000147" "g.120347273_120347283del" "" "Zatkova (2012) - data and classification copied from {DB:HGD}" "" "K431fs" "" "Germline" "" "" "0" "" "" "g.120628426_120628436del" "" "pathogenic (recessive)" "" "0000786294" "0" "97" "3" "120347229" "120347229" "subst" "3.25031E-5" "00006" "HGD_000104" "g.120347229A>G" "" "Vilboux (2009) - data and classification copied from {DB:HGD}" "" "*446ext" "" "Germline" "" "rs143370662" "0" "" "" "g.120628382A>G" "" "pathogenic (recessive)" "" "0000800903" "0" "70" "3" "120351993" "120351993" "subst" "4.07451E-6" "02327" "HGD_000241" "g.120351993C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800904" "0" "90" "3" "120352080" "120352080" "subst" "0.000166629" "02327" "HGD_000097" "g.120352080T>C" "" "" "" "HGD(NM_000187.3):c.1102A>G (p.M368V, p.(Met368Val)), HGD(NM_000187.4):c.1102A>G (p.M368V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800905" "0" "90" "3" "120365867" "120365867" "subst" "1.62643E-5" "02325" "HGD_000051" "g.120365867C>T" "" "" "" "HGD(NM_000187.4):c.502G>A (p.E168K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800906" "0" "90" "3" "120366722" "120366722" "subst" "1.21925E-5" "02327" "HGD_000044" "g.120366722A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858754" "0" "50" "3" "120357304" "120357304" "subst" "8.12803E-6" "02327" "HGD_000282" "g.120357304T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858755" "0" "70" "3" "120357430" "120357430" "subst" "0" "02327" "HGD_000283" "g.120357430T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858756" "0" "90" "3" "120394638" "120394638" "subst" "0" "01943" "HGD_000284" "g.120394638C>A" "" "" "" "HGD(NM_000187.3):c.87+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000881181" "21" "90" "3" "120394711" "120394711" "subst" "2.84812E-5" "02300" "HGD_000004" "g.120394711C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM2, PP2, PP3, PP4, PP5" "Germline" "" "rs397515347" "0" "" "" "g.120675864C>T" "" "pathogenic (recessive)" "ACMG" "0000881342" "11" "90" "3" "120365888" "120365888" "subst" "8.94818E-5" "02300" "HGD_000050" "g.120365888C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS3, PM2, PP2, PP3, PP4, PP5" "Germline" "" "rs28941783" "0" "" "" "g.120647041C>T" "" "pathogenic (recessive)" "ACMG" "0000885489" "0" "90" "3" "120360509" "120360509" "subst" "4.06207E-6" "02325" "HGD_000078" "g.120360509T>C" "" "" "" "HGD(NM_000187.4):c.806A>G (p.H269R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885490" "0" "30" "3" "120365083" "120365083" "subst" "0.00195279" "02327" "HGD_000189" "g.120365083C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885491" "0" "50" "3" "120394689" "120394689" "subst" "4.06762E-6" "02327" "HGD_000167" "g.120394689C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885492" "0" "90" "3" "120394711" "120394711" "subst" "2.84812E-5" "02327" "HGD_000004" "g.120394711C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000918409" "3" "70" "3" "120352103" "120352103" "subst" "0" "03676" "HGD_000285" "g.120352103C>A" "0.00000658" "" "" "" "The variant has been segregated in both parents and both were heterozygous for it." "Germline" "" "" "0" "" "" "g.120633256C>A" "" "pathogenic (recessive)" "ACMG" "0000928678" "0" "10" "3" "120347374" "120347374" "subst" "0.0231815" "02327" "HGD_000223" "g.120347374T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928679" "0" "90" "3" "120352177" "120352177" "subst" "0" "02327" "HGD_000090" "g.120352177T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928680" "0" "70" "3" "120360507" "120360507" "subst" "5.68685E-5" "02327" "HGD_000079" "g.120360507C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928681" "0" "70" "3" "120365149" "120365149" "subst" "4.06554E-6" "02327" "HGD_000186" "g.120365149C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928682" "0" "10" "3" "120369683" "120369683" "subst" "0.0233195" "02327" "HGD_000222" "g.120369683G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928683" "0" "70" "3" "120371492" "120371492" "subst" "0" "02327" "HGD_000023" "g.120371492A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928684" "0" "50" "3" "120389325" "120389325" "subst" "0.000207265" "02327" "HGD_000286" "g.120389325G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928685" "0" "50" "3" "120393829" "120393829" "subst" "0" "02327" "HGD_000287" "g.120393829G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975509" "0" "90" "3" "120365867" "120365867" "subst" "1.62643E-5" "02327" "HGD_000051" "g.120365867C>T" "" "" "" "HGD(NM_000187.4):c.502G>A (p.E168K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033592" "0" "50" "3" "120365143" "120365143" "subst" "0" "01804" "HGD_000288" "g.120365143T>G" "" "" "" "HGD(NM_000187.4):c.620A>C (p.(His207Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045867" "0" "90" "3" "120369688" "120369688" "subst" "1.62508E-5" "02325" "HGD_000032" "g.120369688C>T" "" "" "" "HGD(NM_000187.3):c.367G>A (p.G123R), HGD(NM_000187.4):c.367G>A (p.G123R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 HGD ## Count = 291 "{{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}}" "0000281298" "00009299" "10" "240" "0" "240" "0" "c.240A>T" "r.(?)" "p.(Gln80His)" "" "0000329574" "00009299" "50" "1102" "0" "1102" "0" "c.1102A>G" "r.(?)" "p.(Met368Val)" "" "0000517475" "00009299" "70" "1102" "0" "1102" "0" "c.1102A>G" "r.(?)" "p.(Met368Val)" "" "0000517476" "00009299" "90" "1102" "0" "1102" "0" "c.1102A>G" "r.(?)" "p.(Met368Val)" "" "0000517477" "00009299" "70" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Pro230Ser)" "" "0000517478" "00009299" "70" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Arg225His)" "" "0000517479" "00009299" "50" "650" "-39" "650" "-38" "c.650-39_650-38insA" "r.(=)" "p.(=)" "" "0000517480" "00009299" "30" "650" "-85" "650" "-85" "c.650-85A>G" "r.(=)" "p.(=)" "" "0000517481" "00009299" "90" "342" "1" "342" "1" "c.342+1G>T" "r.spl?" "p.?" "" "0000517482" "00009299" "10" "240" "0" "240" "0" "c.240A>T" "r.(?)" "p.(Gln80His)" "" "0000608222" "00009299" "50" "365" "0" "365" "0" "c.365C>T" "r.(?)" "p.(Ala122Val)" "" "0000651041" "00009299" "90" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Gly270Arg)" "" "0000654766" "00009299" "70" "752" "0" "752" "0" "c.752G>A" "r.(?)" "p.(Gly251Asp)" "" "0000654767" "00009299" "70" "657" "0" "657" "0" "c.657T>G" "r.(?)" "p.(Asn219Lys)" "" "0000688896" "00009299" "90" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "" "0000719132" "00009299" "50" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "" "0000786045" "00009299" "90" "" "0" "" "0" "c.-460_*212{0}" "r.(?)" "p.(?)" "_1_14_" "0000786046" "00009299" "95" "1" "0" "282" "1" "c.(?_1)_(282+1_283-1)del" "r.(?)" "p.(?)" "_1_4i" "0000786047" "00009299" "95" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000786048" "00009299" "97" "8" "0" "8" "0" "c.8A>C" "r.(?)" "p.(Glu3Ala)" "1" "0000786049" "00009299" "99" "11" "0" "11" "0" "c.11T>A" "r.(?)" "p.(Leu4*)" "1" "0000786050" "00009299" "97" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Leu4Ser)" "1" "0000786051" "00009299" "97" "16" "-2063" "16" "-2063" "c.16-2063A>C" "r.(?)" "p.(Tyr5_Ile6insVal*17)" "1i" "0000786052" "00009299" "35" "16" "-175" "16" "-175" "c.16-175C>G" "r.(?)" "p.(?)" "1i" "0000786053" "00009299" "99" "16" "-1" "16" "-1" "c.16-1G>A" "r.spl" "p.(Tyr6_Gln29del)" "1i" "0000786054" "00009299" "95" "16" "-272" "87" "305" "c.16-272_87+305del" "r.spl" "p.(Tyr6_Gln29del)" "2" "0000786055" "00009299" "99" "31" "0" "32" "0" "c.31_32delinsATT" "r.(?)" "p.(Gly11Ilefs*3)" "2" "0000786056" "00009299" "97" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Glu13Lys)" "2" "0000786057" "00009299" "97" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Asp18Asn)" "2" "0000786058" "00009299" "95" "52" "0" "52" "0" "c.52G>T" "r.(?)" "p.(Asp18Tyr)" "2" "0000786059" "00009299" "97" "74" "0" "74" "0" "c.74T>C" "r.(?)" "p.(Leu25Pro)" "2" "0000786060" "00009299" "99" "85" "0" "85" "0" "c.85del" "r.(?)" "p.(Gln29Argfs*82)" "2" "0000786061" "00009299" "99" "87" "1" "87" "1" "c.87+1G>A" "r.spl" "p.(Tyr6_Gln29del)" "2i" "0000786062" "00009299" "99" "87" "8" "88" "-31" "c.87+8_88-31del" "r.(?)" "p.(?)" "2i" "0000786063" "00009299" "35" "87" "35" "87" "35" "c.87+35A>T" "r.(?)" "p.(?)" "2i" "0000786064" "00009299" "35" "87" "118" "87" "118" "c.87+118A>G" "r.(?)" "p.(?)" "2i" "0000786065" "00009299" "35" "88" "-218" "88" "-218" "c.88-218A>T" "r.(?)" "p.(?)" "2i" "0000786066" "00009299" "97" "98" "0" "98" "0" "c.98A>G" "r.(?)" "p.(Gln33Arg)" "3" "0000786067" "00009299" "99" "119" "0" "119" "0" "c.119A>C" "r.(?)" "p.(Tyr40Ser)" "3" "0000786068" "00009299" "99" "124" "0" "124" "0" "c.124del" "r.(?)" "p.(Glu42Serfs*69)" "3" "0000786069" "00009299" "99" "125" "0" "125" "0" "c.125A>C" "r.(?)" "p.(Glu42Ala)" "3" "0000786070" "00009299" "95" "127" "0" "127" "0" "c.127C>G" "r.(?)" "p.(Gln43Glu)" "3" "0000786071" "00009299" "97" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Leu44Phe)" "3" "0000786072" "00009299" "95" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "3" "0000786073" "00009299" "97" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Ser47Leu)" "3" "0000786074" "00009299" "97" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Trp)" "3" "0000786075" "00009299" "97" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53Gln)" "3" "0000786076" "00009299" "97" "171" "0" "171" "0" "c.171G>C" "r.(?)" "p.(Lys57Asn)" "3" "0000786077" "00009299" "95" "174" "0" "174" "0" "c.174A>T" "r.(?)" "p.(Arg58Ser)" "3" "0000786078" "00009299" "99" "175" "0" "175" "0" "c.175del" "r.(?)" "p.(Ser59Alafs*52)" "3" "0000786079" "00009299" "35" "176" "114" "176" "114" "c.176+114T>A" "r.(?)" "p.(?)" "3i" "0000786080" "00009299" "35" "177" "-112" "177" "-112" "c.177-112C>T" "r.(?)" "p.(?)" "3i" "0000786081" "00009299" "35" "177" "-52" "177" "-52" "c.177-52A>C" "r.(?)" "p.(?)" "3i" "0000786082" "00009299" "35" "177" "-50" "177" "-50" "c.177-50C>T" "r.(?)" "p.(?)" "3i" "0000786083" "00009299" "35" "177" "-35" "177" "-35" "c.177-35T>G" "r.(?)" "p.(?)" "3i" "0000786084" "00009299" "99" "177" "-2" "177" "-2" "c.177-2A>G" "r.spl" "p.(Trp60Leufs*16)" "3i" "0000786085" "00009299" "10" "" "0" "" "0" "c.283--5218_283-5168CT[n]" "r.(?)" "p.(?)" "4i" "0000786086" "00009299" "10" "" "0" "" "0" "c.282+942_282+979TG[n]" "r.(?)" "p.(?)" "4i" "0000786087" "00009299" "99" "178" "0" "178" "0" "c.178T>G" "r.(?)" "p.(Trp60Gly)" "4" "0000786088" "00009299" "99" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Trp60*)" "4" "0000786089" "00009299" "99" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Trp60*)" "4" "0000786090" "00009299" "97" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.(Leu61Pro)" "4" "0000786091" "00009299" "95" "184" "0" "184" "0" "c.184T>A" "r.(?)" "p.(Tyr62Asn)" "4" "0000786092" "00009299" "99" "184" "0" "187" "0" "c.184_187dup" "r.(?)" "p.(Arg63Ilefs*2)" "4" "0000786093" "00009299" "99" "185" "0" "185" "0" "c.185A>G" "r.(?)" "p.(Tyr62Cys)" "4" "0000786094" "00009299" "97" "189" "0" "189" "0" "c.189G>A" "r.(?)" "p.(Arg63=)" "4" "0000786095" "00009299" "99" "189" "0" "189" "0" "c.189G>T" "r.(?)" "p.(Arg63Ser)" "4" "0000786096" "00009299" "97" "217" "0" "217" "0" "c.217T>C" "r.(?)" "p.(Phe73Leu)" "4" "0000786097" "00009299" "97" "221" "0" "221" "0" "c.221A>T" "r.(?)" "p.(Glu74Val)" "4" "0000786098" "00009299" "33" "240" "0" "240" "0" "c.240A>T" "r.(?)" "p.(Gln80His)" "4" "0000786099" "00009299" "15" "260" "0" "260" "0" "c.260A>C" "r.(?)" "p.(Glu87Ala)" "4" "0000786100" "00009299" "97" "274" "0" "274" "0" "c.274C>A" "r.(?)" "p.(Pro92Thr)" "4" "0000786101" "00009299" "35" "282" "31" "282" "31" "c.282+31A>G" "r.(?)" "p.(?)" "4i" "0000786102" "00009299" "35" "283" "-145" "283" "-145" "c.283-145C>T" "r.(?)" "p.(?)" "4i" "0000786103" "00009299" "35" "283" "-13" "283" "-13" "c.283-13dup" "r.(?)" "p.(?)" "4i" "0000786104" "00009299" "35" "283" "-4" "283" "-4" "c.283-4T>C" "r.spl" "p.?" "4i" "0000786105" "00009299" "99" "283" "-9199" "434" "1688" "c.283-9199_434+1688del" "r.(?)" "p.(Leu95Metfs*33)" "4i_6i" "0000786106" "00009299" "97" "289" "0" "289" "0" "c.289T>C" "r.(?)" "p.(Trp97Arg)" "5" "0000786107" "00009299" "99" "289" "0" "289" "0" "c.289T>G" "r.(?)" "p.(Trp97Gly)" "5" "0000786108" "00009299" "99" "291" "0" "291" "0" "c.291G>A" "r.(?)" "p.(Trp97*)" "5" "0000786109" "00009299" "99" "291" "0" "291" "0" "c.291G>C" "r.(?)" "p.(Trp97Cys)" "5" "0000786110" "00009299" "99" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Phe100Ser)" "5" "0000786111" "00009299" "97" "334" "0" "334" "0" "c.334T>G" "r.(?)" "p.(Phe112Val)" "5" "0000786112" "00009299" "99" "342" "1" "342" "1" "c.342+1G>A" "r.spl" "p.(Leu95_Ser114del)" "5i" "0000786113" "00009299" "99" "342" "1" "342" "1" "c.342+1G>T" "r.spl" "p.(Leu95_Ser114del)" "5i" "0000786114" "00009299" "99" "342" "3" "342" "3" "c.342+3A>C" "r.spl" "p.(Leu95_Ser114del)" "5i" "0000786115" "00009299" "35" "342" "25" "342" "25" "c.342+25T>C" "r.(?)" "p.(?)" "5i" "0000786116" "00009299" "97" "343" "-11" "343" "-11" "c.343-11G>A" "r.(?)" "p.(?)" "5i" "0000786117" "00009299" "97" "343" "0" "343" "0" "c.343G>C" "r.(?)" "p.(Gly115Arg)" "6" "0000786118" "00009299" "97" "347" "0" "347" "0" "c.347T>C" "r.(?)" "p.(Leu116Pro)" "6" "0000786119" "00009299" "99" "357" "0" "357" "0" "c.357dupG" "r.(?)" "p.(Cys120Valfs*9)" "6" "0000786120" "00009299" "97" "359" "0" "359" "0" "c.359G>T" "r.(?)" "p.(Cys120Phe)" "6" "0000786121" "00009299" "97" "360" "0" "360" "0" "c.360T>G" "r.(?)" "p.(Cys120Trp)" "6" "0000786122" "00009299" "97" "362" "0" "362" "0" "c.362G>A" "r.(?)" 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"p.(Arg321*)" "12" "0000786240" "00009299" "97" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Arg321Gln)" "12" "0000786241" "00009299" "97" "964" "0" "964" "0" "c.964T>C" "r.(?)" "p.(Trp322Arg)" "12" "0000786242" "00009299" "99" "970" "0" "970" "0" "c.970dup" "r.(?)" "p.(Val324Glyfs*3)" "12" "0000786243" "00009299" "97" "986" "0" "986" "0" "c.986T>G" "r.(?)" "p.(Phe329Cys)" "12" "0000786244" "00009299" "95" "990" "0" "990" "0" "c.990G>C" "r.(?)" "p.(Arg330Ser)" "12" "0000786245" "00009299" "99" "990" "0" "990" "0" "c.990G>T" "r.(?)" "p.(Arg330Ser)" "12" "0000786246" "00009299" "99" "995" "0" "995" "0" "c.995C>G" "r.(?)" "p.(Pro332Arg)" "12" "0000786247" "00009299" "99" "1006" "2" "1006" "2" "c.1006+2T>A" "r.spl" "p.(Asp294Glyfs*4)" "12i" "0000786248" "00009299" "99" "1006" "6" "1006" "6" "c.1006+6T>C" "r.spl" "p.?" "12i" "0000786249" "00009299" "35" "1007" "-170" "1007" "-170" "c.1007-170A>G" "r.(?)" "p.(?)" "12i" "0000786250" "00009299" "99" "1007" "-2" "1007" "-2" "c.1007-2A>T" "r.spl" "p.(Arg336Serfs*5)" "12i" "0000786251" "00009299" "35" "" "0" "" "0" "c.1188+2269_1189-2270[TG[n]TA[n]" "r.(?)" "p.(?)" "13i" "0000786252" "00009299" "95" "1007" "-1709" "1188" "1121" "c.1007-1709_1188+1121del" "r.spl" "p.(Arg336Serfs*5)" "12i_13i" "0000786253" "00009299" "97" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336Lys)" "13" "0000786254" "00009299" "99" "1007" "0" "1007" "0" "c.1007G>C" "r.(?)" "p.(Arg336Thr)" "13" "0000786255" "00009299" "99" "1008" "0" "1008" "0" "c.1008dup" "r.(?)" "p.(Asn337Glufs*5)" "13" "0000786256" "00009299" "97" "1009" "0" "1009" "0" "c.1009A>G" "r.(?)" "p.(Asn337Asp)" "13" "0000786257" "00009299" "99" "1016" "0" "1016" "0" "c.1016del" "r.(?)" "p.(Met339Argfs*30)" "13" "0000786258" "00009299" "99" "1017" "0" "1019" "0" "c.1017_1019delinsTA" "r.(?)" "p.(Met339Ilefs*30)" "13" "0000786259" "00009299" "97" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Ser340Ile)" "13" "0000786260" "00009299" "97" "1031" "0" "1031" "0" "c.1031del" "r.(?)" "p.(Gly344Aspfs*25)" "13" "0000786261" "00009299" "99" "1034" "0" "1034" "0" "c.1034T>G" "r.(?)" "p.(Leu345Arg)" "13" "0000786262" "00009299" "99" "1037" "0" "1037" "0" "c.1037T>C" "r.(?)" "p.(Ile346Thr)" "13" "0000786263" "00009299" "97" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347*)" "13" "0000786264" "00009299" "95" "1040" "0" "1040" "0" "c.1040G>C" "r.(?)" "p.(Arg347Pro)" "13" "0000786265" "00009299" "99" "1049" "0" "1049" "0" "c.1049A>G" "r.(?)" "p.(Tyr350Cys)" "13" "0000786266" "00009299" "97" "1057" "0" "1057" "0" "c.1057A>C" "r.(?)" "p.(Lys353Gln)" "13" "0000786267" "00009299" "97" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Pro359Ser)" "13" "0000786268" "00009299" "97" "1078" "0" "1078" "0" "c.1078G>C" "r.(?)" "p.(Gly360Arg)" "13" "0000786269" "00009299" "97" "1079" "0" "1079" "0" "c.1079G>C" "r.(?)" "p.(Gly360Ala)" "13" "0000786270" "00009299" "97" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Gly361Arg)" "13" "0000786271" "00009299" "97" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Gly362Arg)" "13" "0000786272" "00009299" "97" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Gly362Glu)" "13" "0000786273" "00009299" "97" "1095" "0" "1100" "0" "c.1095_1100dup" "r.(?)" "p.(Ser366_Thr367dup)" "13" "0000786274" "00009299" "99" "1102" "0" "1102" "0" "c.1102A>G" "r.(?)" "p.(Met368Val)" "13" "0000786275" "00009299" "99" "1111" "0" "1111" "0" "c.1111dup" "r.(?)" "p.(His371Profs*4)" "13" "0000786276" "00009299" "99" "1112" "0" "1112" "0" "c.1112A>G" "r.(?)" "p.(His371Arg)" "13" "0000786277" "00009299" "95" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Gly372Arg)" "13" "0000786278" "00009299" "99" "1115" "0" "1117" "0" "c.1115_1117del" "r.(?)" "p.(Gly372_Pro373delinsAla)" "13" "0000786279" "00009299" "97" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Pro373Leu)" "13" "0000786280" "00009299" "97" "1120" "0" "1120" "0" "c.1120G>C" "r.(?)" "p.(Asp374His)" "13" "0000786281" "00009299" "97" "1157" "0" "1160" "0" "c.1157_1160del" "r.(?)" "p.(Leu386Hisfs*18)" "13" "0000786282" "00009299" "97" "1188" "1" "1188" "1" "c.1188+1G>A" "r.spl" "p.?" "13i" "0000786283" "00009299" "99" "1188" "1" "1188" "1" "c.1188+1G>T" "r.spl" "p.(Arg336Serfs*5)" "13i" "0000786284" "00009299" "95" "1188" "8" "1188" "8" "c.1188+8T>A" "r.spl" "p.?" "13i" "0000786285" "00009299" "35" "1188" "51" "1188" "51" "c.1188+51A>G" "r.(?)" "p.(?)" "13i" "0000786286" "00009299" "35" "1188" "89" "1188" "89" "c.1188+89C>T" "r.(?)" "p.(?)" "13i" "0000786287" "00009299" "35" "1188" "142" "1188" "142" "c.1188+142G>T" "r.(?)" "p.(?)" "13i" "0000786288" "00009299" "35" "1188" "203" "1188" "203" "c.1188+203G>A" "r.(?)" "p.(?)" "13i" "0000786289" "00009299" "95" "1189" "-41" "1248" "0" "c.1189-41_1248del" "r.spl" "p.?" "13i_14" "0000786290" "00009299" "95" "1191" "0" "1191" "0" "c.1191A>C" "r.(?)" "p.(Ala397=)" "14" "0000786291" "00009299" "97" "1201" "0" "1201" "0" "c.1201G>C" "r.(?)" "p.(Glu401Gln)" "14" "0000786292" "00009299" "97" "1221" "0" "1221" "0" "c.1221G>A" "r.spl" "p.?" "14" "0000786293" "00009299" "97" "1290" "0" "1300" "0" "c.1290_1300del" "r.(?)" "p.(Lys431Hisfs*11)" "14" "0000786294" "00009299" "97" "1336" "0" "1336" "0" "c.1336T>C" "r.(?)" "p.(*446Argext*24)" "14" "0000800903" "00009299" "70" "1188" "1" "1188" "1" "c.1188+1G>A" "r.spl?" "p.?" "" "0000800904" "00009299" "90" "1102" "0" "1102" "0" "c.1102A>G" "r.(?)" "p.(Met368Val)" "" "0000800905" "00009299" "90" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Glu168Lys)" "" "0000800906" "00009299" "90" "469" "2" "469" "2" "c.469+2T>C" "r.spl?" "p.?" "" "0000858754" "00009299" "50" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(His335Arg)" "" "0000858755" "00009299" "70" "880" "-2" "880" "-2" "c.880-2A>T" "r.spl?" "p.?" "" "0000858756" "00009299" "90" "87" "1" "87" "1" "c.87+1G>T" "r.spl?" "p.?" "" "0000881181" "00009299" "90" "16" "-1" "16" "-1" "c.16-1G>A" "r.spl" "p.?" "" "0000881342" "00009299" "90" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Gly161Arg)" "" "0000885489" "00009299" "90" "806" "0" "806" "0" "c.806A>G" "r.(?)" "p.(His269Arg)" "" "0000885490" "00009299" "30" "649" "31" "649" "31" "c.649+31G>A" "r.(=)" "p.(=)" "" "0000885491" "00009299" "50" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Glu13Lys)" "" "0000885492" "00009299" "90" "16" "-1" "16" "-1" "c.16-1G>A" "r.spl?" "p.?" "" "0000918409" "00009299" "70" "1079" "0" "1079" "0" "c.1079G>T" "r.(?)" "p.(Gly360Val)" "13" "0000928678" "00009299" "10" "1191" "0" "1191" "0" "c.1191A>C" "r.(?)" "p.(Ala397=)" "" "0000928679" "00009299" "90" "1007" "-2" "1007" "-2" "c.1007-2A>T" "r.spl?" "p.?" "" "0000928680" "00009299" "70" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Gly270Arg)" "" "0000928681" "00009299" "70" "614" "0" "614" "0" "c.614G>T" "r.(?)" "p.(Gly205Val)" "" "0000928682" "00009299" "10" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(=)" "" "0000928683" "00009299" "70" "289" "0" "289" "0" "c.289T>G" "r.(?)" "p.(Trp97Gly)" "" "0000928684" "00009299" "50" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(=)" "" "0000928685" "00009299" "50" "95" "0" "95" "0" "c.95C>A" "r.(?)" "p.(Pro32His)" "" "0000975509" "00009299" "90" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Glu168Lys)" "" "0001033592" "00009299" "50" "620" "0" "620" "0" "c.620A>C" "r.(?)" "p.(His207Pro)" "" "0001045867" "00009299" "90" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000294352" "0000651041" "0000420822" "0000881181" "0000420822" "0000881342" "0000432798" "0000918409"