### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HLA-A) # 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}}" "HLA-A" "major histocompatibility complex, class I, A" "6" "p21.3" "unknown" "NG_029217.2" "UD_132368934249" "" "https://www.LOVD.nl/HLA-A" "" "1" "4931" "3105" "142800" "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/HLA-A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-11-01 14:35:07" "00000" "2025-05-05 21:14:00" ## 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}}" "00009426" "HLA-A" "transcript variant 1" "001" "NM_002116.7" "" "NP_002107.3" "" "" "" "-84" "1527" "1098" "29910247" "29913661" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02767" "-" "Susceptibility to severe cutaneous adverse reaction" "" "608579" "" "" "" "00006" "2014-09-25 23:29:40" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HLA-A" "02767" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02767 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 51 "{{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}}" "0000248753" "0" "10" "6" "29911228" "29911228" "subst" "0.565713" "02325" "HLA-A_000023" "g.29911228A>T" "" "" "" "HLA-A(NM_001242758.1):c.527A>T (p.E176V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29943451A>T" "" "benign" "" "0000248772" "0" "10" "6" "29911225" "29911225" "subst" "0.174223" "02325" "HLA-A_000022" "g.29911225A>G" "" "" "" "HLA-A(NM_001242758.1):c.524A>G (p.H175R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29943448A>G" "" "benign" "" "0000248777" "0" "10" "6" "29911064" "29911064" "subst" "0.595972" "02325" "HLA-A_000018" "g.29911064A>G" "" "" "" "HLA-A(NM_001242758.1):c.363A>G (p.I121M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29943287A>G" "" "benign" "" "0000248812" "0" "10" "6" "29911203" "29911203" "subst" "0.243465" "02325" "HLA-A_000021" "g.29911203A>C" "" "" "" "HLA-A(NM_001242758.1):c.502A>C (p.K168Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29943426A>C" "" "benign" "" "0000248884" "0" "10" "6" "29910717" "29910717" "subst" "0.433193" "02325" "HLA-A_000012" "g.29910717A>G" "" "" "" "HLA-A(NM_001242758.1):c.257A>G (p.Q86R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942940A>G" "" "benign" "" "0000248923" "0" "10" "6" "29912348" "29912348" "subst" "0.159162" "02325" "HLA-A_000035" "g.29912348A>G" "" "" "" "HLA-A(NM_001242758.1):c.967A>G (p.T323A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944571A>G" "" "benign" "" "0000248924" "0" "10" "6" "29912856" "29912856" "subst" "0.661036" "02325" "HLA-A_000048" "g.29912856A>T" "" "" "" "HLA-A(NM_001242758.1):c.1033A>T (p.T345S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29945079A>T" "" "benign" "" "0000249084" "0" "10" "6" "29910421" "29910421" "del" "0.120826" "02325" "HLA-A_000047" "g.29910421del" "" "" "" "HLA-A(NM_001242758.1):c.73+18delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942644del" "" "benign" "" "0000249085" "0" "10" "6" "29912398" "29912398" "subst" "0.498041" "02325" "HLA-A_000037" "g.29912398A>G" "" "" "" "HLA-A(NM_001242758.1):c.1012+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944621A>G" "" "benign" "" "0000249086" "0" "10" "6" "29913074" "29913074" "subst" "0.855159" "02325" "HLA-A_000045" "g.29913074A>G" "" "" "" "HLA-A(NM_001242758.1):c.1093+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29945297A>G" "" "benign" "" "0000249087" "0" "10" "6" "29913078" "29913078" "subst" "0.854879" "02325" "HLA-A_000046" "g.29913078A>G" "" "" "" "HLA-A(NM_001242758.1):c.1093+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29945301A>G" "" "benign" "" "0000281308" "0" "10" "6" "29912417" "29912417" "del" "0" "02325" "HLA-A_000038" "g.29912417del" "" "" "" "HLA-A(NM_001242758.1):c.1012+24delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944640del" "" "benign" "" "0000281309" "0" "10" "6" "29912830" "29912830" "subst" "0.852667" "02325" "HLA-A_000039" "g.29912830T>C" "" "" "" "HLA-A(NM_001242758.1):c.1013-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29945053T>C" "" "benign" "" "0000281310" "0" "10" "6" "29912852" "29912852" "subst" "0.661048" "02325" "HLA-A_000040" "g.29912852T>C" "" "" "" "HLA-A(NM_001242758.1):c.1029T>C (p.S343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29945075T>C" "" "benign" "" "0000281311" "0" "10" "6" "29913001" "29913001" "subst" "0.150004" "02325" "HLA-A_000041" "g.29913001T>C" "" "" "" "HLA-A(NM_001242758.1):c.1046-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29945224T>C" "" "benign" "" "0000281312" "0" "10" "6" "29913037" "29913037" "subst" "0.142597" "02325" "HLA-A_000042" "g.29913037G>A" "" "" "" "HLA-A(NM_001242758.1):c.1072G>A (p.V358M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29945260G>A" "" "benign" "" "0000281313" "0" "10" "6" "29913042" "29913042" "subst" "0.882108" "02325" "HLA-A_000043" "g.29913042C>T" "" "" "" "HLA-A(NM_001242758.1):c.1077C>T (p.S359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29945265C>T" "" "benign" "" "0000281314" "0" "10" "6" "29913067" "29913067" "subst" "0.531646" "02325" "HLA-A_000044" "g.29913067T>C" "" "" "" "HLA-A(NM_001242758.1):c.1093+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29945290T>C" "" "benign" "" "0000281315" "0" "10" "6" "29910604" "29910604" "subst" "0.36316" "02325" "HLA-A_000010" "g.29910604C>A" "" "" "" "HLA-A(NM_001242758.1):c.144C>A (p.A48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942827C>A" "" "benign" "" "0000281316" "0" "10" "6" "29910716" "29910716" "subst" "0.38908" "02325" "HLA-A_000011" "g.29910716C>G" "" "" "" "HLA-A(NM_001242758.1):c.256C>G (p.Q86E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942939C>G" "" "benign" "" "0000281317" "0" "10" "6" "29910730" "29910730" "subst" "0.421435" "02325" "HLA-A_000013" "g.29910730T>A" "" "" "" "HLA-A(NM_001242758.1):c.270T>A (p.N90K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942953T>A" "" "benign" "" "0000281318" "0" "10" "6" "29910742" "29910742" "subst" "0.701855" "02325" "HLA-A_000014" "g.29910742G>C" "" "" "" "HLA-A(NM_001242758.1):c.282G>C (p.Q94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942965G>C" "" "benign" "" "0000281319" "0" "10" "6" "29910358" "29910358" "subst" "0.48808" "02325" "HLA-A_000001" "g.29910358C>G" "" "" "" "HLA-A(NM_001242758.1):c.28C>G (p.L10V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942581C>G" "" "benign" "" "0000281320" "0" "10" "6" "29910752" "29910752" "subst" "0.268969" "02325" "HLA-A_000015" "g.29910752G>C" "" "" "" "HLA-A(NM_001242758.1):c.292G>C (p.D98H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942975G>C" "" "benign" "" "0000281321" "0" "10" "6" "29910820" "29910820" "subst" "0.846724" "02325" "HLA-A_000016" "g.29910820G>C" "" "" "" "HLA-A(NM_001242758.1):c.343+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29943043G>C" "" "benign" "" "0000281322" "0" "10" "6" "29911030" "29911030" "subst" "0.161771" "02325" "HLA-A_000017" "g.29911030C>T" "" "" "" "HLA-A(NM_001242758.1):c.344-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29943253C>T" "" "benign" "" "0000281323" "0" "10" "6" "29911114" "29911114" "subst" "0.576759" "02325" "HLA-A_000019" "g.29911114G>A" "" "" "" "HLA-A(NM_001242758.1):c.413G>A (p.R138Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29943337G>A" "" "benign" "" "0000281324" "0" "10" "6" "29910371" "29910371" "subst" "0.123539" "02325" "HLA-A_000002" "g.29910371C>T" "" "" "" "HLA-A(NM_001242758.1):c.41C>T (p.S14L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942594C>T" "" "benign" "" "0000281325" "0" "10" "6" "29911149" "29911149" "subst" "0.127816" "02325" "HLA-A_000020" "g.29911149C>T" "" "" "" "HLA-A(NM_001242758.1):c.448C>T (p.L150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29943372C>T" "" "benign" "" "0000281326" "0" "10" "6" "29910378" "29910378" "subst" "0.256344" "02325" "HLA-A_000003" "g.29910378C>T" "" "" "" "HLA-A(NM_001242758.1):c.48C>T (p.A16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942601C>T" "" "benign" "" "0000281327" "0" "10" "6" "29911256" "29911256" "subst" "0.882347" "02325" "HLA-A_000024" "g.29911256T>G" "" "" "" "HLA-A(NM_001242758.1):c.555T>G (p.D185E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29943479T>G" "" "benign" "" "0000281328" "0" "10" "6" "29911893" "29911893" "subst" "0.388113" "02325" "HLA-A_000025" "g.29911893C>T" "" "" "" "HLA-A(NM_001242758.1):c.620-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944116C>T" "" "benign" "" "0000281329" "0" "10" "6" "29911970" "29911970" "subst" "0.15367" "02325" "HLA-A_000026" "g.29911970G>A" "" "" "" "HLA-A(NM_001242758.1):c.691G>A (p.G231S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944193G>A" "" "benign" "" "0000281330" "0" "10" "6" "29910419" "29910419" "subst" "0.118526" "02325" "HLA-A_000004" "g.29910419G>T" "" "" "" "HLA-A(NM_001242758.1):c.73+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942642G>T" "" "benign" "" "0000281331" "0" "10" "6" "29910522" "29910522" "subst" "0.643409" "02325" "HLA-A_000005" "g.29910522G>C" "" "" "" "HLA-A(NM_001242758.1):c.74-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942745G>C" "" "benign" "" "0000281332" "0" "10" "6" "29910527" "29910527" "subst" "0.402385" "02325" "HLA-A_000006" "g.29910527C>T" "" "" "" "HLA-A(NM_001242758.1):c.74-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942750C>T" "" "benign" "" "0000281333" "0" "10" "6" "29912042" "29912042" "subst" "0.159168" "02325" "HLA-A_000027" "g.29912042G>A" "" "" "" "HLA-A(NM_001242758.1):c.763G>A (p.V255M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944265G>A" "" "benign" "" "0000281334" "0" "10" "6" "29910538" "29910538" "subst" "0.25574" "02325" "HLA-A_000007" "g.29910538C>T" "" "" "" "HLA-A(NM_001242758.1):c.78C>T (p.S26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942761C>T" "" "benign" "" "0000281335" "0" "10" "6" "29912087" "29912087" "subst" "0.15786" "02325" "HLA-A_000028" "g.29912087G>T" "" "" "" "HLA-A(NM_001242758.1):c.808G>T (p.A270S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944310G>T" "" "benign" "" "0000281336" "0" "10" "6" "29912108" "29912108" "subst" "0" "02325" "HLA-A_000029" "g.29912108G>C" "" "" "" "HLA-A(NM_001242758.1):c.829G>C (p.E277Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944331G>C" "" "benign" "" "0000281337" "0" "10" "6" "29912147" "29912147" "subst" "0.277511" "02325" "HLA-A_000030" "g.29912147C>T" "" "" "" "HLA-A(NM_001242758.1):c.868C>T (p.L290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944370C>T" "" "benign" "" "0000281338" "0" "10" "6" "29912188" "29912188" "subst" "0.351686" "02325" "HLA-A_000031" "g.29912188T>C" "" "" "" "HLA-A(NM_001242758.1):c.895+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944411T>C" "" "benign" "" "0000281339" "0" "10" "6" "29912280" "29912280" "subst" "0.661033" "02325" "HLA-A_000032" "g.29912280T>C" "" "" "" "HLA-A(NM_001242758.1):c.899T>C (p.L300P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944503T>C" "" "benign" "" "0000281340" "0" "10" "6" "29912326" "29912326" "subst" "0.0230959" "02325" "HLA-A_000033" "g.29912326G>A" "" "" "" "HLA-A(NM_001242758.1):c.945G>A (p.L315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944549G>A" "" "benign" "" "0000281341" "0" "10" "6" "29912333" "29912333" "subst" "0.516837" "02325" "HLA-A_000034" "g.29912333C>T" "" "" "" "HLA-A(NM_001242758.1):c.952C>T (p.L318F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944556C>T" "" "benign" "" "0000281342" "0" "10" "6" "29910557" "29910557" "subst" "0.0872433" "02325" "HLA-A_000008" "g.29910557T>A" "" "" "" "HLA-A(NM_001242758.1):c.97T>A (p.F33I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942780T>A" "" "benign" "" "0000281343" "0" "10" "6" "29912368" "29912368" "subst" "0.649508" "02325" "HLA-A_000036" "g.29912368C>T" "" "" "" "HLA-A(NM_001242758.1):c.987C>T (p.A329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29944591C>T" "" "benign" "" "0000281344" "0" "10" "6" "29910558" "29910558" "subst" "0.282609" "02325" "HLA-A_000009" "g.29910558T>C" "" "" "" "HLA-A(NM_001242758.1):c.98T>C (p.F33S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29942781T>C" "" "benign" "" "0000528181" "0" "50" "6" "29911320" "29911320" "subst" "0.000374586" "01804" "HLA-A_000049" "g.29911320G>T" "" "" "" "HLA-A(NM_002116.8):c.619G>T (p.(Asp207Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29943543G>T" "" "VUS" "" "0000977141" "0" "50" "6" "29910533" "29910533" "subst" "0" "01804" "HLA-A_000054" "g.29910533G>A" "" "" "" "HLA-A(NM_002116.8):c.74-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035656" "0" "30" "6" "29911326" "29911326" "subst" "0.025054" "01804" "HLA-A_000055" "g.29911326A>G" "" "" "" "HLA-A(NM_002116.8):c.619+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 HLA-A ## Count = 51 "{{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}}" "0000248753" "00009426" "10" "527" "0" "527" "0" "c.527A>T" "r.(?)" "p.(Glu176Val)" "" "0000248772" "00009426" "10" "524" "0" "524" "0" "c.524A>G" "r.(?)" "p.(His175Arg)" "" "0000248777" "00009426" "10" "363" "0" "363" "0" "c.363A>G" "r.(?)" "p.(Ile121Met)" "" "0000248812" "00009426" "10" "502" "0" "502" "0" "c.502A>C" "r.(?)" "p.(Lys168Gln)" "" "0000248884" "00009426" "10" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(Gln86Arg)" "" "0000248923" "00009426" "10" "967" "0" "967" "0" "c.967A>G" "r.(?)" "p.(Thr323Ala)" "" "0000248924" "00009426" "10" "1033" "0" "1033" "0" "c.1033A>T" "r.(?)" "p.(Thr345Ser)" "" "0000249084" "00009426" "10" "73" "18" "73" "18" "c.73+18del" "r.(=)" "p.(=)" "" "0000249085" "00009426" "10" "1012" "5" "1012" "5" "c.1012+5A>G" "r.spl?" "p.?" "" "0000249086" "00009426" "10" "1093" "16" "1093" "16" "c.1093+16A>G" "r.(=)" "p.(=)" "" "0000249087" "00009426" "10" "1093" "20" "1093" "20" "c.1093+20A>G" "r.(=)" "p.(=)" "" "0000281308" "00009426" "10" "1012" "24" "1012" "24" "c.1012+24del" "r.(=)" "p.(=)" "" "0000281309" "00009426" "10" "1013" "-6" "1013" "-6" "c.1013-6T>C" "r.(=)" "p.(=)" "" "0000281310" "00009426" "10" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Ser343=)" "" "0000281311" "00009426" "10" "1046" "-10" "1046" "-10" "c.1046-10T>C" "r.(=)" "p.(=)" "" "0000281312" "00009426" "10" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Val358Met)" "" "0000281313" "00009426" "10" "1077" "0" "1077" "0" "c.1077C>T" "r.(?)" "p.(Ser359=)" "" "0000281314" "00009426" "10" "1093" "9" "1093" "9" "c.1093+9T>C" "r.(=)" "p.(=)" "" "0000281315" "00009426" "10" "144" "0" "144" "0" "c.144C>A" "r.(?)" "p.(Ala48=)" "" "0000281316" "00009426" "10" "256" "0" "256" "0" "c.256C>G" "r.(?)" "p.(Gln86Glu)" "" "0000281317" "00009426" "10" "270" "0" "270" "0" "c.270T>A" "r.(?)" "p.(Asn90Lys)" "" "0000281318" "00009426" "10" "282" "0" "282" "0" "c.282G>C" "r.(?)" "p.(Gln94His)" "" "0000281319" "00009426" "10" "28" "0" "28" "0" "c.28C>G" "r.(?)" "p.(Leu10Val)" "" "0000281320" "00009426" "10" "292" "0" "292" "0" "c.292G>C" "r.(?)" "p.(Asp98His)" "" "0000281321" "00009426" "10" "343" "17" "343" "17" "c.343+17G>C" "r.(=)" "p.(=)" "" "0000281322" "00009426" "10" "344" "-15" "344" "-15" "c.344-15C>T" "r.(=)" "p.(=)" "" "0000281323" "00009426" "10" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "0000281324" "00009426" "10" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Ser14Leu)" "" "0000281325" "00009426" "10" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Leu150=)" "" "0000281326" "00009426" "10" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Ala16=)" "" "0000281327" "00009426" "10" "555" "0" "555" "0" "c.555T>G" "r.(?)" "p.(Asp185Glu)" "" "0000281328" "00009426" "10" "620" "-6" "620" "-6" "c.620-6C>T" "r.(=)" "p.(=)" "" "0000281329" "00009426" "10" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Gly231Ser)" "" "0000281330" "00009426" "10" "73" "16" "73" "16" "c.73+16G>T" "r.(=)" "p.(=)" "" "0000281331" "00009426" "10" "74" "-12" "74" "-12" "c.74-12G>C" "r.(=)" "p.(=)" "" "0000281332" "00009426" "10" "74" "-7" "74" "-7" "c.74-7C>T" "r.(=)" "p.(=)" "" "0000281333" "00009426" "10" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Val255Met)" "" "0000281334" "00009426" "10" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(Ser26=)" "" "0000281335" "00009426" "10" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Ala270Ser)" "" "0000281336" "00009426" "10" "829" "0" "829" "0" "c.829G>C" "r.(?)" "p.(Glu277Gln)" "" "0000281337" "00009426" "10" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Leu290=)" "" "0000281338" "00009426" "10" "895" "14" "895" "14" "c.895+14T>C" "r.(=)" "p.(=)" "" "0000281339" "00009426" "10" "899" "0" "899" "0" "c.899T>C" "r.(?)" "p.(Leu300Pro)" "" "0000281340" "00009426" "10" "945" "0" "945" "0" "c.945G>A" "r.(?)" "p.(Leu315=)" "" "0000281341" "00009426" "10" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Leu318Phe)" "" "0000281342" "00009426" "10" "97" "0" "97" "0" "c.97T>A" "r.(?)" "p.(Phe33Ile)" "" "0000281343" "00009426" "10" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Ala329=)" "" "0000281344" "00009426" "10" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Phe33Ser)" "" "0000528181" "00009426" "50" "619" "0" "619" "0" "c.619G>T" "r.(?)" "p.(Asp207Tyr)" "" "0000977141" "00009426" "50" "74" "-1" "74" "-1" "c.74-1G>A" "r.spl?" "p.?" "" "0001035656" "00009426" "30" "619" "6" "619" "6" "c.619+6A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0