### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AP1B1) # 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}}" "AP1B1" "adaptor-related protein complex 1, beta 1 subunit" "22" "q12.2" "unknown" "NC_000022.10" "UD_132439548843" "" "https://www.LOVD.nl/AP1B1" "" "1" "554" "162" "600157" "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/AP1B1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-23 19:47:30" "00000" "2025-11-01 13:22:20" ## 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}}" "00002623" "AP1B1" "transcript variant 1" "003" "NM_001127.3" "" "NP_001118.3" "" "" "" "-187" "3991" "2850" "29784572" "29723669" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "06535" "KIDAR" "Keratitis-ichthyosis-deafness syndrome, autosomal recessive" "AR" "242150" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AP1B1" "06535" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00266382" "" "" "" "2" "" "00006" "{PMID:Alsaif 2019:31630791}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam1PatII1" "00266383" "" "" "00266382" "1" "" "00006" "{PMID:Alsaif 2019:31630791}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam1PatII2" "00266384" "" "" "" "1" "" "00006" "{PMID:Alsaif 2019:31630791}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam2PatII2" "00269788" "" "" "" "1" "" "00006" "{PMID:Boyden 2019:31630788}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Uruguay" "" "0" "" "" "" "Fam424" "00269789" "" "" "" "1" "" "00006" "{PMID:Boyden 2019:31630788}" "6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "(United States)" "" "0" "" "" "" "Fam1325" "00438574" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0022" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00266382" "00198" "00266383" "00198" "00266384" "00198" "00269788" "00198" "00269789" "00198" "00438574" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 06535, 06906 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000204151" "00198" "00266382" "00006" "Familial, autosomal recessive" "4y4m" "intellectual disability; global developmental delay; enteropathy (early onset); deafness; no neuropathy; ichthyosis; no palmoplantar keratoderma; erythroderma; hepatopathy; sparse hair, wiry texture; MRI brain no cerebral atrophy, no basal ganglia abnormalities" "" "" "" "" "" "" "" "" "" "MEDNIK-like syndrome" "" "0000204152" "00198" "00266383" "00006" "Familial, autosomal recessive" "1y5m" "global developmental delay; enteropathy (later onset); deafness; no neuropathy; ichthyosis; no palmoplantar keratoderma; erythroderma; hepatopathy; sparse hair, wiry texture; MRI brain basal ganglia abnormalities, no cerebral atrophy" "" "" "" "" "" "" "" "" "" "MEDNIK-like syndrome" "" "0000204153" "00198" "00266384" "00006" "Familial, autosomal recessive" "4y6m" "intellectual disability; global developmental delay; no enteropathy; deafness; no neuropathy; ichthyosis; palmoplantar keratoderma; erythroderma; no hepatopathy; sparse hair; nerve conduction study unremarkable" "" "" "" "" "" "" "" "" "" "MEDNIK-like syndrome" "" "0000207581" "00198" "00269788" "00006" "Familial, autosomal recessive" "33y" "ichthyosis, deafness, photophobia" "" "" "" "" "" "" "" "" "" "" "" "0000207582" "00198" "00269789" "00006" "Familial, autosomal recessive" "00y11m" "ichthyosis, deafness, photophobia" "" "" "" "" "" "" "" "" "" "" "" "0000328477" "06906" "00438574" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000267508" "00266382" "1" "00006" "00006" "2019-10-25 11:59:49" "" "" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000267509" "00266383" "1" "00006" "00006" "2019-10-25 11:59:49" "" "" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000267510" "00266384" "1" "00006" "00006" "2019-10-25 11:59:49" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000270940" "00269788" "1" "00006" "00006" "2019-12-06 15:29:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000270941" "00269789" "1" "00006" "00006" "2019-12-06 15:37:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000440056" "00438574" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000267508" "AP1B1" "0000267509" "AP1B1" "0000267510" "AP1B1" "0000270940" "AP1B1" "0000270941" "AP1B1" ## 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 = 29 "{{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}}" "0000346700" "0" "50" "22" "29747702" "29747702" "subst" "0" "02327" "AP1B1_000001" "g.29747702T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29351713T>C" "" "VUS" "" "0000598568" "3" "90" "22" "29759322" "29815475" "del" "0" "00006" "AP1B1_000003" "g.29759322_29815475del" "" "{PMID:Alsaif 2019:31630791}" "" "g.29758984_29815476del" "variant description not clear and due to duplicated sequence/3\'rule varies from c.-187_38-227del[0] to c.-187_143+6del[0]" "Germline" "yes" "" "0" "" "" "g.29363333_29419486del" "" "pathogenic (recessive)" "" "0000598569" "3" "90" "22" "29759322" "29815475" "del" "0" "00006" "AP1B1_000003" "g.29759322_29815475del" "" "{PMID:Alsaif 2019:31630791}" "" "g.29758984_29815476del" "variant description not clear and due to duplicated sequence/3\'rule varies from c.-187_38-227del[0] to c.-187_143+6del[0]" "Germline" "yes" "" "0" "" "" "g.29363333_29419486del" "" "pathogenic (recessive)" "" "0000598570" "3" "90" "22" "29759096" "29759096" "subst" "0" "00006" "AP1B1_000002" "g.29759096C>T" "" "{PMID:Alsaif 2019:31630791}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29363107C>T" "" "pathogenic (recessive)" "" "0000624759" "21" "90" "22" "29754810" "29754810" "subst" "0" "00006" "AP1B1_000004" "g.29754810A>G" "" "{PMID:Boyden 2019:31630788}" "" "" "" "Germline" "" "" "0" "" "" "g.29358821A>G" "" "pathogenic (recessive)" "" "0000624760" "11" "90" "22" "29727885" "29727885" "del" "0" "00006" "AP1B1_000005" "g.29727885del" "" "{PMID:Boyden 2019:31630788}" "" "2335delC" "" "Germline" "" "" "0" "" "" "g.29331896del" "" "pathogenic (recessive)" "" "0000624761" "3" "90" "22" "29727841" "29727841" "subst" "0" "00006" "AP1B1_000006" "g.29727841C>A" "" "{PMID:Boyden 2019:31630788}" "" "" "" "Germline" "" "" "0" "" "" "g.29331852C>A" "" "pathogenic (recessive)" "" "0000658921" "0" "70" "22" "29745356" "29745356" "del" "0" "01943" "AP1B1_000007" "g.29745356del" "" "" "" "AP1B1(NM_001127.3):c.1288delG (p.A430Pfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29349367del" "" "likely pathogenic" "" "0000681844" "0" "50" "22" "29726395" "29726395" "subst" "0.00130655" "01943" "AP1B1_000008" "g.29726395C>T" "" "" "" "AP1B1(NM_001127.3):c.2738G>A (p.R913Q), AP1B1(NM_001127.4):c.2738G>A (p.(Arg913Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693156" "0" "50" "22" "29737551" "29737551" "subst" "0.000422459" "01943" "AP1B1_000009" "g.29737551T>C" "" "" "" "AP1B1(NM_001127.3):c.1735A>G (p.S579G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728095" "0" "30" "22" "29738340" "29738340" "subst" "0.00015041" "01943" "AP1B1_000010" "g.29738340T>C" "" "" "" "AP1B1(NM_001127.3):c.1470A>G (p.K490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728096" "0" "30" "22" "29750746" "29750746" "subst" "4.06075E-5" "01943" "AP1B1_000011" "g.29750746G>A" "" "" "" "AP1B1(NM_001127.3):c.831C>T (p.Y277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809562" "0" "30" "22" "29736816" "29736816" "subst" "0.0014507" "01943" "AP1B1_000012" "g.29736816G>C" "" "" "" "AP1B1(NM_001127.3):c.1827C>G (p.A609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809563" "0" "50" "22" "29737602" "29737602" "subst" "0" "01943" "AP1B1_000013" "g.29737602C>T" "" "" "" "AP1B1(NM_001127.3):c.1684G>A (p.E562K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809564" "0" "30" "22" "29750757" "29750757" "subst" "0.000280185" "01943" "AP1B1_000014" "g.29750757A>G" "" "" "" "AP1B1(NM_001127.3):c.820T>C (p.L274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866809" "0" "30" "22" "29726705" "29726705" "subst" "0.000389591" "01943" "AP1B1_000015" "g.29726705G>A" "" "" "" "AP1B1(NM_001127.3):c.2525-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866810" "0" "30" "22" "29737521" "29737521" "subst" "0.000842765" "01943" "AP1B1_000016" "g.29737521C>T" "" "" "" "AP1B1(NM_001127.3):c.1765G>A (p.V589M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931272" "0" "50" "22" "29730256" "29730256" "subst" "0" "02327" "AP1B1_000017" "g.29730256G>C" "" "" "" "AP1B1(NM_001127.4):c.2307C>G (p.(Asn769Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936376" "0" "50" "22" "29726422" "29726422" "subst" "4.06303E-6" "00006" "AP1B1_000018" "g.29726422T>C" "" "{PMID:Hamdan 2017:29100083}" "" "NM_145730:c.A2690G (N897S)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000984182" "0" "30" "22" "29730245" "29730245" "subst" "3.14364E-5" "01804" "AP1B1_000019" "g.29730245A>G" "" "" "" "AP1B1(NM_001127.4):c.2309+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984183" "0" "30" "22" "29730346" "29730346" "subst" "0.000263978" "01804" "AP1B1_000020" "g.29730346G>A" "" "" "" "AP1B1(NM_001166019.2):c.2143-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043808" "0" "50" "22" "29730345" "29730345" "subst" "1.64958E-5" "01804" "AP1B1_000021" "g.29730345G>A" "" "" "" "AP1B1(NM_001127.4):c.2218C>T (p.(Arg740Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043809" "0" "50" "22" "29746081" "29746081" "subst" "0" "01804" "AP1B1_000022" "g.29746081T>C" "" "" "" "AP1B1(NM_001127.4):c.1214A>G (p.(Tyr405Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043810" "0" "50" "22" "29747191" "29747191" "subst" "2.84453E-5" "01804" "AP1B1_000023" "g.29747191C>T" "" "" "" "AP1B1(NM_001127.4):c.1124G>A (p.(Arg375His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057119" "0" "50" "22" "29726395" "29726395" "subst" "0.00130655" "01804" "AP1B1_000008" "g.29726395C>T" "" "" "" "AP1B1(NM_001127.3):c.2738G>A (p.R913Q), AP1B1(NM_001127.4):c.2738G>A (p.(Arg913Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057120" "0" "50" "22" "29730256" "29730256" "subst" "0" "01804" "AP1B1_000017" "g.29730256G>C" "" "" "" "AP1B1(NM_001127.4):c.2307C>G (p.(Asn769Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057121" "0" "50" "22" "29747228" "29747228" "subst" "1.21832E-5" "01804" "AP1B1_000024" "g.29747228T>C" "" "" "" "AP1B1(NM_001127.4):c.1087A>G (p.(Thr363Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057122" "0" "50" "22" "29752539" "29752539" "subst" "1.21852E-5" "01804" "AP1B1_000025" "g.29752539C>T" "" "" "" "AP1B1(NM_001127.4):c.592G>A (p.(Asp198Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057123" "0" "50" "22" "29754706" "29754706" "subst" "0.000655313" "01804" "AP1B1_000026" "g.29754706G>A" "" "" "" "AP1B1(NM_001127.4):c.525+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 AP1B1 ## Count = 29 "{{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}}" "0000346700" "00002623" "50" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Ile351Val)" "" "0000598568" "00002623" "90" "-187" "0" "38" "-227" "c.-187_38-227del[0]" "r.0" "p.0" "" "0000598569" "00002623" "90" "-187" "0" "143" "6" "c.-187_143+6del[0]" "r.0" "p.0" "" "0000598570" "00002623" "90" "38" "-1" "38" "-1" "c.38-1G>A" "r.40del" "p.Glu14Argfs*5" "" "0000624759" "00002623" "90" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Cys144Arg)" "" "0000624760" "00002623" "90" "2335" "0" "2335" "0" "c.2335del" "r.(?)" "p.(Leu779Serfs*26)" "" "0000624761" "00002623" "90" "2374" "0" "2374" "0" "c.2374G>T" "r.(?)" "p.(Glu792*)" "" "0000658921" "00002623" "70" "1288" "0" "1288" "0" "c.1288del" "r.(?)" "p.(Ala430ProfsTer19)" "" "0000681844" "00002623" "50" "2738" "0" "2738" "0" "c.2738G>A" "r.(?)" "p.(Arg913Gln)" "" "0000693156" "00002623" "50" "1735" "0" "1735" "0" "c.1735A>G" "r.(?)" "p.(Ser579Gly)" "" "0000728095" "00002623" "30" "1470" "0" "1470" "0" "c.1470A>G" "r.(?)" "p.(Lys490=)" "" "0000728096" "00002623" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Tyr277=)" "" "0000809562" "00002623" "30" "1827" "0" "1827" "0" "c.1827C>G" "r.(?)" "p.(Ala609=)" "" "0000809563" "00002623" "50" "1684" "0" "1684" "0" "c.1684G>A" "r.(?)" "p.(Glu562Lys)" "" "0000809564" "00002623" "30" "820" "0" "820" "0" "c.820T>C" "r.(?)" "p.(Leu274=)" "" "0000866809" "00002623" "30" "2525" "-7" "2525" "-7" "c.2525-7C>T" "r.(=)" "p.(=)" "" "0000866810" "00002623" "30" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Val589Met)" "" "0000931272" "00002623" "50" "2307" "0" "2307" "0" "c.2307C>G" "r.(?)" "p.(Asn769Lys)" "" "0000936376" "00002623" "50" "2711" "0" "2711" "0" "c.2711A>G" "r.(?)" "p.(Asn904Ser)" "" "0000984182" "00002623" "30" "2309" "9" "2309" "9" "c.2309+9T>C" "r.(=)" "p.(=)" "" "0000984183" "00002623" "30" "2217" "0" "2217" "0" "c.2217C>T" "r.(?)" "p.(=)" "" "0001043808" "00002623" "50" "2218" "0" "2218" "0" "c.2218C>T" "r.(?)" "p.(Arg740Cys)" "" "0001043809" "00002623" "50" "1214" "0" "1214" "0" "c.1214A>G" "r.(?)" "p.(Tyr405Cys)" "" "0001043810" "00002623" "50" "1124" "0" "1124" "0" "c.1124G>A" "r.(?)" "p.(Arg375His)" "" "0001057119" "00002623" "50" "2738" "0" "2738" "0" "c.2738G>A" "r.(?)" "p.(Arg913Gln)" "" "0001057120" "00002623" "50" "2307" "0" "2307" "0" "c.2307C>G" "r.(?)" "p.(Asn769Lys)" "" "0001057121" "00002623" "50" "1087" "0" "1087" "0" "c.1087A>G" "r.(?)" "p.(Thr363Ala)" "" "0001057122" "00002623" "50" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Asp198Asn)" "" "0001057123" "00002623" "50" "525" "9" "525" "9" "c.525+9C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000267508" "0000598568" "0000267509" "0000598569" "0000267510" "0000598570" "0000270940" "0000624759" "0000270940" "0000624760" "0000270941" "0000624761" "0000440056" "0000936376"