### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAM111A) # 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}}" "FAM111A" "family with sequence similarity 111, member A" "11" "q12.1" "unknown" "NC_000011.9" "UD_132465004323" "" "https://www.LOVD.nl/FAM111A" "" "1" "24725" "63901" "615292" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-08-23 10:06:40" "00000" "2026-03-09 14:59:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00007544" "FAM111A" "transcript variant 1" "004" "NM_022074.3" "" "NP_071357.2" "" "" "" "-224" "3371" "1836" "58912252" "58922512" "" "0000-00-00 00:00:00" "" "" "00025844" "FAM111A" "family with sequence similarity 111 member A (FAM111A), transcript variant 6" "000" "NM_001312909.1" "" "NP_001299838.1" "" "" "" "-728" "3385" "1836" "58910219" "58922512" "00006" "2023-08-03 15:02:52" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01290" "KCS2" "Kenny-Caffey syndrome, type 2" "AD" "127000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02419" "GCLEB" "Gracile bone dysplasia" "AD" "602361" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FAM111A" "01290" "FAM111A" "02419" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00435497" "" "" "" "1" "" "00006" "{PMID:Rots 2023:37196654}" "2-generation family, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat15" "00453415" "" "" "" "2" "" "03578" "{PMID:Bonde 2025:39501122}" "" "F" "yes" "" "" "0" "" "" "" "FamPat1" "00453416" "" "" "00453415" "1" "" "03578" "{PMID:Bonde 2025:39501122}" "" "M" "yes" "" "" "0" "" "" "" "FamPat2" "00468278" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00435497" "05611" "00453415" "01290" "00453416" "01290" "00468278" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01290, 02419, 05611 ## Count = 4 "{{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}}" "0000325684" "05611" "00435497" "00006" "Isolated (sporadic)" "5y" "see paper; ..., pregnancy small for gestational age, C-section; birth 38w+0d; no language/speech delay, 19.5, but inconsistent use of words; consistent use of words 29m; motor delay, 25m-first steps; moderate intellectual disability; autism spectrum disorder; ADHD, aggression, problems in social interaction; no psychosis/schizophrenia; no use psychiatric drugs; sleep apnea; absence seizures and GTC; hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; hypertelorism, synorphys, fine upper lip hair, deep set elanguage/speech delay, prominent upper nasal bridge with downturned nasal tip, short filtrum, prognathism, cheeks full (steroids), hypodontia, microdontia, wide hands, minimal hypermobility elbows, cryptorchidism; no lip/cleft palate; no hypermetropia/myopia; strabismus (exotropia); normal hearing; no recurrent ear infections; congenital heart disease (PDA); neonatal feeding difficulties, admitted to NICU for 8d for feeding difficulties; gastroesophageal reflux; constipation; on ketogenic diet; no skin hyperlaxity; no genitourinary abnormalities; cryptorchidism; admitted for pneumonia and was given dose of antibiotics which showed a \"transformative improvement \" in cognition/behavior after antibiotic administration. Dad describes change as using more words, longer attention span. Only temporary. He then received a steroid transfusion which again showed huge improvement which gradually wears off. He is now on oral prednisone, he gets crushed prednisone every 3 days, shown to have huge improvements to cognition and then he regresses back to his baseline. NYU plan is to bring him back in and do a few rounds of steroid pulse therapy." "" "" "" "" "" "" "" "" "NEDCFSA" "neurodevelopmental delay" "" "0000342078" "01290" "00453415" "03578" "Familial, autosomal recessive" "" "Abnormality of the face, microdontia of primary teeth, high hypermetropia, astigmatism, fully accommodative esotropia, strabismus, short stature, relative macrocephaly, pectus carinatum, thoracic scoliosis, thickened cortex of long bones, stenosis of the medullary cavity of the long bones, slender long bones, delayed skeletal maturation, thin skin, sparse scalp hair, sparse eyebrows, nail dysplasia,high pitched voice, hypernasal speech, pulmonary hypoplasia, anemia, thrombocytosis, reduced circulating growth hormone concentration, decreased response to growth hormone stimulation test" "" "" "" "" "" "" "" "" "" "" "" "0000342079" "01290" "00453416" "03578" "Familial, autosomal recessive" "" "Abnormality of the face, high hypermetropia, astigmatism, fully accommodative esotropia, short stature, dolichocephaly, thickened cortex of long bones, stenosis of the medullary cavity of the long bones, delayed skeletal maturation, hypermelanotic macule, sparse scalp hair, sparse eyebrows, nail dysplasia, high pitched voice, nasal speech, micropenis, cryptorchidism, anemia, thrombocytosis" "" "" "" "" "" "" "" "" "" "" "" "0000353430" "00198" "00468278" "03544" "Isolated (sporadic)" "" "HP:0001954, HP:0004691, HP:0001511, HP:0000158, HP:0000455, HP:0000490, HP:0000319, HP:0001399" "" "" "" "" "" "" "" "" "KCS2" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000436976" "00435497" "1" "00006" "00006" "2023-08-03 13:47:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455026" "00453415" "1" "03578" "03578" "2024-08-23 08:12:01" "00006" "2024-08-23 10:14:03" "RT-PCR;SEQ-NG" "DNA;RNA" "blood" "WES" "0000455027" "00453416" "1" "03578" "03578" "2024-08-23 08:19:20" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000469944" "00468278" "1" "03544" "03544" "2025-11-08 14:47:44" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000455026" "FAM111A" "0000455027" "FAM111A" ## 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 = 31 "{{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}}" "0000544654" "0" "30" "11" "58919380" "58919380" "subst" "0" "01804" "FAM111A_000002" "g.58919380T>C" "" "" "" "FAM111A(NM_001142519.1):c.239T>C (p.(Val80Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59151907T>C" "" "likely benign" "" "0000544656" "0" "10" "11" "58919923" "58919932" "dup" "0" "01943" "FAM111A_000004" "g.58919923_58919932dup" "" "" "" "FAM111A(NM_001142519.1):c.782_791dup (p.(Phe264Leufs*7)), FAM111A(NM_001142520.2):c.782_791dupGCAGATACTT (p.F264Lfs*7), FAM111A(NM_022074.4):c.782_..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59152450_59152459dup" "" "benign" "" "0000544657" "0" "50" "11" "58920304" "58920307" "del" "0" "01804" "FAM111A_000005" "g.58920304_58920307del" "" "" "" "FAM111A(NM_001142519.1):c.1163_1166del (p.(Asp388Alafs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59152831_59152834del" "" "VUS" "" "0000544658" "0" "30" "11" "58920729" "58920729" "subst" "0.000609285" "01943" "FAM111A_000006" "g.58920729A>G" "" "" "" "FAM111A(NM_022074.3):c.1588A>G (p.I530V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59153256A>G" "" "likely benign" "" "0000544659" "0" "30" "11" "58920879" "58920879" "subst" "0" "01804" "FAM111A_000007" "g.58920879T>C" "" "" "" "FAM111A(NM_001142519.1):c.1738T>C (p.(Ser580Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59153406T>C" "" "likely benign" "" "0000613463" "0" "30" "11" "58919879" "58919879" "subst" "0.000609721" "01943" "FAM111A_000008" "g.58919879T>C" "" "" "" "FAM111A(NM_022074.3):c.738T>C (p.N246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59152406T>C" "" "likely benign" "" "0000691093" "0" "50" "11" "58920252" "58920252" "subst" "0.000186848" "02325" "FAM111A_000009" "g.58920252A>T" "" "" "" "FAM111A(NM_001142519.1):c.1111A>T (p.(Thr371Ser)), FAM111A(NM_022074.4):c.1111A>T (p.T371S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723506" "0" "50" "11" "58919505" "58919505" "subst" "1.22072E-5" "01943" "FAM111A_000010" "g.58919505C>T" "" "" "" "FAM111A(NM_001312909.1):c.364C>T (p.Q122*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723507" "0" "30" "11" "58919505" "58919505" "subst" "1.22072E-5" "02327" "FAM111A_000010" "g.58919505C>T" "" "" "" "FAM111A(NM_001312909.1):c.364C>T (p.Q122*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723508" "0" "30" "11" "58919721" "58919721" "subst" "0.00064224" "01804" "FAM111A_000011" "g.58919721T>A" "" "" "" "FAM111A(NM_001142519.1):c.580T>A (p.(Cys194Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805202" "0" "30" "11" "58919451" "58919451" "subst" "0.0023207" "01804" "FAM111A_000012" "g.58919451T>A" "" "" "" "FAM111A(NM_001142519.1):c.310T>A (p.(Leu104Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853038" "0" "10" "11" "58919923" "58919932" "dup" "0" "02326" "FAM111A_000004" "g.58919923_58919932dup" "" "" "" "FAM111A(NM_001142519.1):c.782_791dup (p.(Phe264Leufs*7)), FAM111A(NM_001142520.2):c.782_791dupGCAGATACTT (p.F264Lfs*7), FAM111A(NM_022074.4):c.782_..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862592" "0" "50" "11" "58919627" "58919630" "del" "0" "01804" "FAM111A_000013" "g.58919627_58919630del" "" "" "" "FAM111A(NM_001142519.1):c.483_486del (p.(Lys163Argfs*87))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862593" "0" "30" "11" "58919923" "58919932" "dup" "0" "01804" "FAM111A_000004" "g.58919923_58919932dup" "" "" "" "FAM111A(NM_001142519.1):c.782_791dup (p.(Phe264Leufs*7)), FAM111A(NM_001142520.2):c.782_791dupGCAGATACTT (p.F264Lfs*7), FAM111A(NM_022074.4):c.782_..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931792" "21" "70" "11" "58919422" "58919431" "del" "0" "00006" "FAM111A_000014" "g.58919422_58919431del" "" "{PMID:Rots 2023:37196654}" "" "281_290del10" "" "Germline" "" "" "0" "" "" "g.59151949_59151958del" "" "VUS" "" "0000966447" "0" "50" "11" "58920252" "58920252" "subst" "0.000186848" "01804" "FAM111A_000009" "g.58920252A>T" "" "" "" "FAM111A(NM_001142519.1):c.1111A>T (p.(Thr371Ser)), FAM111A(NM_022074.4):c.1111A>T (p.T371S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979664" "0" "30" "11" "58920294" "58920294" "subst" "0.000158434" "01804" "FAM111A_000015" "g.58920294C>T" "" "" "" "FAM111A(NM_001312909.2):c.1153C>T (p.(His385Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979665" "0" "30" "11" "58920355" "58920355" "subst" "0" "01804" "FAM111A_000016" "g.58920355G>A" "" "" "" "FAM111A(NM_001312909.2):c.1214G>A (p.(Gly405Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979666" "0" "30" "11" "58920492" "58920492" "subst" "0.0352642" "01804" "FAM111A_000017" "g.58920492C>G" "" "" "" "FAM111A(NM_001312909.2):c.1351C>G (p.(Gln451Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979667" "0" "50" "11" "58920882" "58920882" "subst" "8.1248E-6" "01804" "FAM111A_000018" "g.58920882A>G" "" "" "" "FAM111A(NM_001312909.2):c.1741A>G (p.(Ile581Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989999" "3" "90" "11" "58916426" "58916426" "subst" "0" "03578" "FAM111A_000019" "g.58916426G>A" "" "{PMID:Bonde 2025:39501122}" "" "" "fibroblast RNA analyzed; exon skipping; almost complete loss of FAM111A protein in patient-derived fibroblasts" "Germline" "yes" "" "0" "" "" "g.59148953G>A" "" "likely pathogenic (recessive)" "ACMG" "0000990000" "3" "90" "11" "59148953" "59148953" "subst" "0" "03578" "FAM111A_000019" "g.59148953G>A" "" "{PMID:Bonde 2025:39501122}" "" "" "fibroblast RNA analyzed; exon skipping; almost complete loss of FAM111A protein in patient-derived fibroblasts" "Germline" "yes" "" "0" "" "" "g.59148953G>A" "" "likely pathogenic (recessive)" "" "0000999167" "0" "30" "11" "58919369" "58919369" "del" "0" "01804" "FAM111A_000020" "g.58919369del" "" "" "" "FAM111A(NM_022074.3):c.228delG (p.(Thr77fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999168" "0" "50" "11" "58920220" "58920220" "subst" "0" "01804" "FAM111A_000021" "g.58920220T>A" "" "" "" "FAM111A(NM_001312909.2):c.1079T>A (p.(Leu360*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999169" "0" "50" "11" "58920260" "58920260" "subst" "0" "01804" "FAM111A_000022" "g.58920260T>G" "" "" "" "FAM111A(NM_001312909.2):c.1119T>G (p.(Phe373Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013184" "0" "30" "11" "58920427" "58920427" "subst" "8.13107E-6" "03779" "FAM111A_000023" "g.58920427C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs771954122" "0" "" "" "" "" "likely benign" "" "0001026032" "0" "50" "11" "58920855" "58920857" "del" "3.24947E-5" "02325" "FAM111A_000024" "g.58920855_58920857del" "" "" "" "FAM111A(NM_022074.4):c.1714_1716delATT (p.I572del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053893" "0" "30" "11" "58920249" "58920249" "subst" "3.24968E-5" "01804" "FAM111A_000025" "g.58920249G>A" "" "" "" "FAM111A(NM_001312909.2):c.1108G>A (p.(Ala370Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058024" "0" "90" "11" "58920847" "58920847" "subst" "0" "03544" "FAM111A_000026" "g.58920847G>A" "" "" "" "" "" "Germline" "-" "rs587777011" "0" "" "" "g.59153374G>A" "{CV:56810}" "likely pathogenic" "ACMG" "0001065473" "0" "30" "11" "58920766" "58920766" "subst" "6.0934E-5" "01804" "FAM111A_000027" "g.58920766G>A" "" "" "" "FAM111A(NM_001312909.2):c.1625G>A (p.(Gly542Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001070246" "0" "50" "11" "58920969" "58920969" "del" "0" "03779" "FAM111A_000028" "g.58920969del" "" "" "" "" "" "Unknown" "" "rs778664987" "0" "" "" "" "" "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 FAM111A ## Count = 59 "{{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}}" "0000544654" "00007544" "30" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Val80Ala)" "" "0000544654" "00025844" "30" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Val80Ala)" "" "0000544656" "00007544" "10" "782" "0" "791" "0" "c.782_791dup" "r.(?)" "p.(Phe264LeufsTer7)" "" "0000544656" "00025844" "10" "782" "0" "791" "0" "c.782_791dup" "r.(?)" "p.(Phe264LeufsTer7)" "" "0000544657" "00007544" "50" "1163" "0" "1166" "0" "c.1163_1166del" "r.(?)" "p.(Asp388AlafsTer7)" "" "0000544657" "00025844" "50" "1163" "0" "1166" "0" "c.1163_1166del" "r.(?)" "p.(Asp388AlafsTer7)" "" "0000544658" "00007544" "30" "1588" "0" "1588" "0" "c.1588A>G" "r.(?)" "p.(Ile530Val)" "" "0000544658" "00025844" "30" "1588" "0" "1588" "0" "c.1588A>G" "r.(?)" "p.(Ile530Val)" "" "0000544659" "00007544" "30" "1738" "0" "1738" "0" "c.1738T>C" "r.(?)" "p.(Ser580Pro)" "" "0000544659" "00025844" "30" "1738" "0" "1738" "0" "c.1738T>C" "r.(?)" "p.(Ser580Pro)" "" "0000613463" "00007544" "30" "738" "0" "738" "0" "c.738T>C" "r.(?)" "p.(Asn246=)" "" "0000613463" "00025844" "30" "738" "0" "738" "0" "c.738T>C" "r.(?)" "p.(Asn246=)" "" "0000691093" "00007544" "50" "1111" "0" "1111" "0" "c.1111A>T" "r.(?)" "p.(Thr371Ser)" "" "0000691093" "00025844" "50" "1111" "0" "1111" "0" "c.1111A>T" "r.(?)" "p.(Thr371Ser)" "" "0000723506" "00007544" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Gln122*)" "" "0000723506" "00025844" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Gln122*)" "" "0000723507" "00007544" "30" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Gln122*)" "" "0000723507" "00025844" "30" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Gln122*)" "" "0000723508" "00007544" "30" "580" "0" "580" "0" "c.580T>A" "r.(?)" "p.(Cys194Ser)" "" "0000723508" "00025844" "30" "580" "0" "580" "0" "c.580T>A" "r.(?)" "p.(Cys194Ser)" "" "0000805202" "00007544" "30" "310" "0" "310" "0" "c.310T>A" "r.(?)" "p.(Leu104Ile)" "" "0000805202" "00025844" "30" "310" "0" "310" "0" "c.310T>A" "r.(?)" "p.(Leu104Ile)" "" "0000853038" "00007544" "10" "782" "0" "791" "0" "c.782_791dup" "r.(?)" "p.(Phe264LeufsTer7)" "" "0000853038" "00025844" "10" "782" "0" "791" "0" "c.782_791dup" "r.(?)" "p.(Phe264LeufsTer7)" "" "0000862592" "00007544" "50" "486" "0" "489" "0" "c.486_489del" "r.(?)" "p.(Lys163Argfs*87)" "" "0000862592" "00025844" "50" "486" "0" "489" "0" "c.486_489del" "r.(?)" "p.(Lys163Argfs*87)" "" "0000862593" "00007544" "30" "782" "0" "791" "0" "c.782_791dup" "r.(?)" "p.(Phe264LeufsTer7)" "" "0000862593" "00025844" "30" "782" "0" "791" "0" "c.782_791dup" "r.(?)" "p.(Phe264LeufsTer7)" "" "0000931792" "00007544" "70" "281" "0" "290" "0" "c.281_290del" "r.(?)" "p.(Leu94Hisfs*22)" "" "0000931792" "00025844" "70" "281" "0" "290" "0" "c.281_290del" "r.(?)" "p.(Leu94Hisfs*22)" "" "0000966447" "00007544" "50" "1111" "0" "1111" "0" "c.1111A>T" "r.(?)" "p.(Thr371Ser)" "" "0000966447" "00025844" "50" "1111" "0" "1111" "0" "c.1111A>T" "r.(?)" "p.(Thr371Ser)" "" "0000979664" "00007544" "30" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(His385Tyr)" "" "0000979664" "00025844" "30" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(His385Tyr)" "" "0000979665" "00007544" "30" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Gly405Asp)" "" "0000979665" "00025844" "30" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Gly405Asp)" "" "0000979666" "00007544" "30" "1351" "0" "1351" "0" "c.1351C>G" "r.(?)" "p.(Gln451Glu)" "" "0000979666" "00025844" "30" "1351" "0" "1351" "0" "c.1351C>G" "r.(?)" "p.(Gln451Glu)" "" "0000979667" "00007544" "50" "1741" "0" "1741" "0" "c.1741A>G" "r.(?)" "p.(Ile581Val)" "" "0000979667" "00025844" "50" "1741" "0" "1741" "0" "c.1741A>G" "r.(?)" "p.(Ile581Val)" "" "0000989999" "00007544" "90" "81" "0" "81" "0" "c.81G>A" "r.-75_81del" "p.0" "3" "0000989999" "00025844" "90" "81" "0" "81" "0" "c.81G>A" "r.-75_81del" "p.0" "" "0000990000" "00007544" "90" "81" "0" "81" "0" "c.81G>A" "r.-75_81del" "p.0" "3" "0000990000" "00025844" "90" "81" "0" "81" "0" "c.81G>A" "r.-75_81del" "p.0" "" "0000999167" "00007544" "30" "228" "0" "228" "0" "c.228del" "r.(?)" "p.(Thr77Glnfs*6)" "" "0000999167" "00025844" "30" "228" "0" "228" "0" "c.228del" "r.(?)" "p.(Thr77Glnfs*6)" "" "0000999168" "00007544" "50" "1079" "0" "1079" "0" "c.1079T>A" "r.(?)" "p.(Leu360*)" "" "0000999168" "00025844" "50" "1079" "0" "1079" "0" "c.1079T>A" "r.(?)" "p.(Leu360*)" "" "0000999169" "00007544" "50" "1119" "0" "1119" "0" "c.1119T>G" "r.(?)" "p.(Phe373Leu)" "" "0000999169" "00025844" "50" "1119" "0" "1119" "0" "c.1119T>G" "r.(?)" "p.(Phe373Leu)" "" "0001013184" "00025844" "30" "1286" "0" "1286" "0" "c.1286C>T" "r.(?)" "p.(Pro429Leu)" "" "0001026032" "00007544" "50" "1714" "0" "1716" "0" "c.1714_1716del" "r.(?)" "p.(Ile572del)" "" "0001026032" "00025844" "50" "1714" "0" "1716" "0" "c.1714_1716del" "r.(?)" "p.(Ile572del)" "" "0001053893" "00007544" "30" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Ala370Thr)" "" "0001053893" "00025844" "30" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Ala370Thr)" "" "0001058024" "00025844" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.?" "p.(Arg569His)" "6" "0001065473" "00007544" "30" "1625" "0" "1625" "0" "c.1625G>A" "r.(?)" "p.(Gly542Asp)" "" "0001065473" "00025844" "30" "1625" "0" "1625" "0" "c.1625G>A" "r.(?)" "p.(Gly542Asp)" "" "0001070246" "00025844" "50" "1828" "0" "1828" "0" "c.1828del" "r.(?)" "p.(Asp610ThrfsTer10)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000436976" "0000931792" "0000455026" "0000989999" "0000455027" "0000990000" "0000469944" "0001058024"