### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MASP1) # 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}}" "MASP1" "mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)" "3" "q27-q28" "unknown" "NG_029440.1" "UD_130830942960" "" "https://www.LOVD.nl/MASP1" "" "1" "6901" "5648" "600521" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MASP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-06-17 00:00:00" "00006" "2017-07-04 20:58:23" "00000" "2025-07-08 13:22:38" ## 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}}" "00011834" "MASP1" "transcript variant 1" "001" "NM_001879.5" "" "NP_001870.3" "" "" "" "-390" "6086" "2100" "187009810" "186933873" "" "0000-00-00 00:00:00" "" "" "00025597" "MASP1" "transcript variant 2" "003" "NM_139125.3" "" "NP_624302.1" "" "" "" "-390" "3789" "2187" "187009810" "186951870" "00006" "2021-02-08 18:59:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00592" "3MC1" "3MC syndrome, type 1 (3MC1)" "AR" "257920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02963" "HAE3" "angioedema, hereditary, type 3" "AD" "610618" "" "" "" "00006" "2014-09-25 23:29:40" "03256" "2025-04-09 18:11:52" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05896" "3MC" "3MC syndrome (3MC)" "" "" "" "" "" "00006" "2021-02-08 14:53:16" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MASP1" "00139" "MASP1" "00592" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00330805" "" "" "" "1" "" "00006" "{PMID:Munye 2017:28301481}" "" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC27.1" "00330819" "" "" "" "3" "" "00006" "{PMID:Rooryck 2011:21258343}" "5-generation family, 3 affected brothers" "M" "yes" "Greece" "" "0" "" "" "" "FamMC3Pat3.1" "00330820" "" "" "" "2" "" "00006" "{PMID:Rooryck 2011:21258343}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Italy" "" "0" "" "" "" "FamMC5Pat5.1" "00330821" "" "" "00330820" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "brother" "M" "no" "Italy" "" "0" "" "" "" "FamMC5Pat5.2" "00330822" "" "" "" "2" "" "00006" "{PMID:Rooryck 2011:21258343}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "no" "Brazil" "" "0" "" "" "" "FamMC6Pat6.1" "00330823" "" "" "00330822" "1" "" "00006" "{PMID:Rooryck 2011:21258343}" "sister" "M" "no" "Brazil" "" "0" "" "" "" "FamMC6Pat6.2" "00330824" "" "" "" "2" "" "00006" "{PMID:Rooryck 2011:21258343}" "2-generation family, 2 affected (2M), unaffected heterozygous carrier parents" "M" "yes" "Brazil" "" "0" "" "" "" "FamMC7Pat7.1" "00330825" "" "" "" "2" "" "00006" "{PMID:Sirmaci 2010:21035106}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "Fam1Pat1" "00330826" "" "" "00330825" "1" "" "00006" "{PMID:Sirmaci 2010:21035106}" "sister" "F" "" "Turkey" "" "0" "" "" "" "Fam1Pat2" "00330827" "" "" "" "1" "" "00006" "{PMID:Sirmaci 2010:21035106}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "Fam2Pat1" "00359618" "" "" "" "2" "" "03256" "{DOI:Loules 2020:10.3390/jcm911340}" "" "F" "" "Hungary" "" "0" "" "" "" "" "00361999" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat2AB" "00362001" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat4AB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00330805" "05896" "00330819" "05896" "00330820" "05896" "00330821" "05896" "00330822" "05896" "00330823" "05896" "00330824" "05896" "00330825" "05896" "00330826" "05896" "00330827" "05896" "00359618" "02963" "00361999" "04214" "00362001" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00592, 02963, 04214, 05896 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000248998" "05896" "00330805" "00006" "Familial, autosomal recessive" "" "no small stature (<3rd); arched eyebrows; blepharoptosis; epicanthus inversus; hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); cleft lip (bilateral); no cleft palate (unilateral); cleft palate (bilateral); developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; no diastasis recti/umbilical hernia; sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; patent ductus arteriosus; no horseshoe kidney; micropenis; undescended testes; no corneal clouding; no deep set nails; no feeding difficulties" "" "" "" "" "" "" "" "3MC1" "Carnevale syndrome" "0000249012" "05896" "00330819" "00006" "Familial, autosomal recessive" "" "no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC1" "Carnevale syndrome" "0000249013" "05896" "00330820" "00006" "Familial, autosomal recessive" "" "growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC1" "Malpuech syndrome" "0000249014" "05896" "00330821" "00006" "Familial, autosomal recessive" "" "growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC1" "Malpuech syndrome" "0000249015" "05896" "00330822" "00006" "Familial, autosomal recessive" "" "no growth deficiency; no cognitive impairment; no hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; no genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC1" "3MC syndrome" "0000249016" "05896" "00330823" "00006" "Familial, autosomal recessive" "" "no growth deficiency; no cognitive impairment; no hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; caudal appendage; genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC1" "3MC syndrome" "0000249017" "05896" "00330824" "00006" "Familial, autosomal recessive" "" "growth deficiency; no cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; no cardiac defect; no caudal appendage; genital anomaly; no diastasis recti" "" "" "" "" "" "" "" "3MC1" "Michels syndrome" "0000249018" "05896" "00330825" "00006" "Familial, autosomal recessive" "" "see paper; ..., no short stature, mental retardation; arched eyebrows, no telecanthus, hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; deviated or short fingers; limitation elbow movements; no vertebral anomalies; no genital anomalies; vesicorenal anomalies; \tcaudal appendage" "" "" "" "" "" "" "" "3MC1" "3MC syndrome" "0000249019" "05896" "00330826" "00006" "Familial, autosomal recessive" "" "see paper; ..., no short stature, mental retardation; arched eyebrows, telecanthus, hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; no deviated or short fingers; no limitation elbow movements; no vertebral anomalies; no genital anomalies; no vesicorenal anomalies; caudal appendage" "" "" "" "" "" "" "" "3MC1" "3MC syndrome" "0000249020" "05896" "00330827" "00006" "Familial, autosomal recessive" "" "see paper; ..., no short stature, mental retardation; arched eyebrows, telecanthus, no hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; no hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; deviated or short fingers; no limitation elbow movements; no vertebral anomalies; no genital anomalies; vesicorenal anomalies; caudal appendage" "" "" "" "" "" "" "" "3MC1" "3MC syndrome" "0000254891" "02963" "00359618" "03256" "Familial" "" "Proband presenting with a HAE with normal C1 inhibitor and non identified type" "" "" "" "" "" "" "" "" "" "0000257392" "04214" "00361999" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "0000257394" "04214" "00362001" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000332024" "00330805" "1" "00006" "00006" "2021-02-08 15:57:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332038" "00330819" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332039" "00330820" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332040" "00330821" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332041" "00330822" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332042" "00330823" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332043" "00330824" "1" "00006" "00006" "2021-02-08 18:48:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332044" "00330825" "1" "00006" "00006" "2021-02-08 19:18:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332045" "00330826" "1" "00006" "00006" "2021-02-08 19:22:16" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332046" "00330827" "1" "00006" "00006" "2021-02-08 19:26:31" "" "" "SEQ" "DNA" "" "WES" "0000360848" "00359618" "1" "03256" "03256" "2021-04-02 10:26:50" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000363227" "00361999" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363229" "00362001" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000332024" "MASP1" "0000332038" "MASP1" "0000332039" "MASP1" "0000332040" "MASP1" "0000332041" "MASP1" "0000332042" "MASP1" "0000332043" "MASP1" "0000332044" "MASP1" "0000332045" "MASP1" "0000332046" "MASP1" "0000360848" "SERPING1" ## 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 = 68 "{{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}}" "0000248527" "0" "10" "3" "186954285" "186954285" "subst" "0.989864" "02325" "MASP1_000012" "g.186954285A>G" "" "" "" "MASP1(NM_139125.4):c.1374T>C (p.P458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187236497A>G" "" "benign" "" "0000291522" "0" "30" "3" "186961375" "186961375" "subst" "0.000978601" "01943" "MASP1_000014" "g.186961375G>A" "" "" "" "MASP1(NM_001879.5):c.1125C>T (p.H375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187243587G>A" "" "likely benign" "" "0000291523" "0" "50" "3" "186954338" "186954338" "subst" "0" "01943" "MASP1_000013" "g.186954338G>A" "" "" "" "MASP1(NM_139125.3):c.1321C>T (p.R441C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187236550G>A" "" "VUS" "" "0000291524" "0" "50" "3" "186947563" "186947563" "subst" "0.000170626" "01943" "MASP1_000006" "g.186947563C>T" "" "" "" "MASP1(NM_001879.5):c.1426G>A (p.G476R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187229775C>T" "" "VUS" "" "0000291525" "0" "30" "3" "186954138" "186954138" "subst" "0.0017553" "01943" "MASP1_000011" "g.186954138C>T" "" "" "" "MASP1(NM_139125.3):c.1521G>A (p.T507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187236350C>T" "" "likely benign" "" "0000291526" "0" "10" "3" "186953913" "186953913" "subst" "0.00677094" "01943" "MASP1_000010" "g.186953913C>T" "" "" "" "MASP1(NM_139125.3):c.1746G>A (p.P582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187236125C>T" "" "benign" "" "0000291527" "0" "30" "3" "186953906" "186953906" "subst" "1.62816E-5" "01943" "MASP1_000009" "g.186953906G>T" "" "" "" "MASP1(NM_139125.3):c.1753C>A (p.H585N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187236118G>T" "" "likely benign" "" "0000291528" "0" "50" "3" "186940968" "186940968" "subst" "5.27893E-5" "01943" "MASP1_000004" "g.186940968C>A" "" "" "" "MASP1(NM_001879.5):c.1756G>T (p.V586F, p.(Val586Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187223180C>A" "" "VUS" "" "0000291529" "0" "10" "3" "187009412" "187009412" "subst" "0.151224" "01943" "MASP1_000018" "g.187009412G>A" "" "" "" "MASP1(NM_001879.5):c.5+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187291624G>A" "" "benign" "" "0000291530" "0" "90" "3" "186974547" "186974547" "subst" "0" "01943" "MASP1_000017" "g.186974547C>A" "" "" "" "MASP1(NM_001879.5):c.649G>T (p.E217*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187256759C>A" "" "pathogenic" "" "0000291531" "0" "50" "3" "186974465" "186974465" "subst" "0.000312906" "01943" "MASP1_000016" "g.186974465T>C" "" "" "" "MASP1(NM_001879.5):c.731A>G (p.Y244C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187256677T>C" "" "VUS" "" "0000291532" "0" "30" "3" "186969523" "186969523" "subst" "0.00022743" "01943" "MASP1_000015" "g.186969523G>T" "" "" "" "MASP1(NM_001031849.2):c.910C>A (p.(Leu304Ile)), MASP1(NM_001879.5):c.910C>A (p.L304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187251735G>T" "" "likely benign" "" "0000329757" "0" "50" "3" "186953480" "186953480" "subst" "0.00066201" "01804" "MASP1_000008" "g.186953480C>T" "" "" "" "MASP1(NM_139125.3):c.2179G>A (p.(Glu727Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187235692C>T" "" "VUS" "" "0000346177" "0" "50" "3" "186953896" "186953896" "subst" "0" "02327" "MASP1_000019" "g.186953896C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.187236108C>T" "" "VUS" "" "0000518702" "0" "30" "3" "186938818" "186938818" "subst" "0.00112143" "02326" "MASP1_000020" "g.186938818C>T" "" "" "" "MASP1(NM_001879.5):c.1909+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187221030C>T" "" "likely benign" "" "0000518703" "0" "50" "3" "186943232" "186943232" "subst" "0" "01804" "MASP1_000021" "g.186943232G>A" "" "" "" "MASP1(NM_001879.5):c.1621C>T (p.(His541Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187225444G>A" "" "VUS" "" "0000518705" "0" "30" "3" "186944286" "186944286" "subst" "3.74697E-5" "02326" "MASP1_000023" "g.186944286G>A" "" "" "" "MASP1(NM_001879.5):c.1464C>T (p.A488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187226498G>A" "" "likely benign" "" "0000518706" "0" "30" "3" "186944313" "186944313" "subst" "0.00250467" "01943" "MASP1_000024" "g.186944313G>C" "" "" "" "MASP1(NM_001879.5):c.1442-5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187226525G>C" "" "likely benign" "" "0000518707" "0" "30" "3" "186944313" "186944313" "subst" "0.00250467" "01804" "MASP1_000024" "g.186944313G>C" "" "" "" "MASP1(NM_001879.5):c.1442-5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187226525G>C" "" "likely benign" "" "0000518708" "0" "30" "3" "186953932" "186953932" "subst" "0.0453618" "01804" "MASP1_000025" "g.186953932C>A" "" "" "" "MASP1(NM_139125.4):c.1727G>T (p.(Arg576Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187236144C>A" "" "likely benign" "" "0000518709" "0" "50" "3" "186954152" "186954152" "subst" "0.000426652" "01804" "MASP1_000026" "g.186954152G>A" "" "" "" "MASP1(NM_139125.3):c.1507C>T (p.R503C, p.(Arg503Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187236364G>A" "" "VUS" "" "0000518710" "0" "30" "3" "186954264" "186954264" "subst" "0.000284301" "02326" "MASP1_000027" "g.186954264G>A" "" "" "" "MASP1(NM_139125.3):c.1395C>T (p.A465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187236476G>A" "" "likely benign" "" "0000518712" "0" "30" "3" "186959295" "186959295" "subst" "0.0122552" "01804" "MASP1_000029" "g.186959295C>T" "" "" "" "MASP1(NM_001879.5):c.1277G>A (p.(Gly426Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187241507C>T" "" "likely benign" "" "0000518713" "0" "30" "3" "186961336" "186961336" "subst" "4.06058E-6" "01943" "MASP1_000030" "g.186961336T>C" "" "" "" "MASP1(NM_001879.5):c.1164A>G (p.T388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187243548T>C" "" "likely benign" "" "0000518715" "0" "30" "3" "186965162" "186965162" "subst" "0.0051798" "01943" "MASP1_000032" "g.186965162C>T" "" "" "" "MASP1(NM_001031849.2):c.1102G>A (p.D368N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187247374C>T" "" "likely benign" "" "0000518719" "0" "30" "3" "186969523" "186969523" "subst" "0.00022743" "01804" "MASP1_000015" "g.186969523G>T" "" "" "" "MASP1(NM_001031849.2):c.910C>A (p.(Leu304Ile)), MASP1(NM_001879.5):c.910C>A (p.L304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187251735G>T" "" "likely benign" "" "0000518720" "0" "30" "3" "186971048" "186971048" "subst" "0.00013809" "01943" "MASP1_000035" "g.186971048G>A" "" "" "" "MASP1(NM_001879.5):c.800C>T (p.P267L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187253260G>A" "" "likely benign" "" "0000518721" "0" "50" "3" "186974618" "186974618" "subst" "0" "01943" "MASP1_000036" "g.186974618C>T" "" "" "" "MASP1(NM_001031849.2):c.578G>A (p.(Arg193Lys)), MASP1(NM_001879.5):c.578G>A (p.R193K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187256830C>T" "" "VUS" "" "0000518722" "0" "50" "3" "186978570" "186978570" "subst" "1.6276E-5" "01804" "MASP1_000037" "g.186978570C>T" "" "" "" "MASP1(NM_139125.4):c.506G>A (p.(Arg169His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187260782C>T" "" "VUS" "" "0000518724" "0" "50" "3" "186980366" "186980366" "subst" "6.91535E-5" "01943" "MASP1_000039" "g.186980366C>T" "" "" "" "MASP1(NM_001879.5):c.380G>A (p.R127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187262578C>T" "" "VUS" "" "0000654861" "0" "50" "3" "186943181" "186943181" "subst" "0" "01943" "MASP1_000041" "g.186943181G>C" "" "" "" "MASP1(NM_001879.5):c.1672C>G (p.L558V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.187225393G>C" "" "VUS" "" "0000676902" "0" "30" "3" "186953869" "186953869" "subst" "2.43904E-5" "01943" "MASP1_000042" "g.186953869T>C" "" "" "" "MASP1(NM_139125.3):c.1790A>G (p.N597S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676903" "0" "50" "3" "186954152" "186954152" "subst" "0.000426652" "01943" "MASP1_000026" "g.186954152G>A" "" "" "" "MASP1(NM_139125.3):c.1507C>T (p.R503C, p.(Arg503Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676904" "0" "30" "3" "186961284" "186961284" "subst" "0.000182726" "01943" "MASP1_000043" "g.186961284T>G" "" "" "" "MASP1(NM_001879.5):c.1216A>C (p.N406H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688995" "0" "30" "3" "186938053" "186938053" "subst" "0" "01943" "MASP1_000044" "g.186938053G>C" "" "" "" "MASP1(NM_001879.5):c.1910-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688996" "0" "30" "3" "186953886" "186953886" "subst" "4.88178E-5" "01943" "MASP1_000045" "g.186953886G>A" "" "" "" "MASP1(NM_139125.3):c.1773C>T (p.A591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716630" "3" "90" "3" "187003841" "187003841" "subst" "0" "00006" "MASP1_000046" "g.187003841C>T" "" "{PMID:Munye 2017:28301481}" "" "" "" "Germline" "" "" "0" "" "" "g.187286053C>T" "" "pathogenic (recessive)" "" "0000719305" "0" "50" "3" "186953672" "186953672" "subst" "0" "02329" "MASP1_000040" "g.186953672C>A" "" "" "" "MASP1(NM_139125.4):c.1987G>T (p.D663Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719306" "0" "30" "3" "186961345" "186961345" "subst" "0.000255819" "01943" "MASP1_000052" "g.186961345G>A" "" "" "" "MASP1(NM_001879.5):c.1155C>T (p.N385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729287" "3" "90" "3" "186954170" "186954170" "subst" "0" "00006" "MASP1_000047" "g.186954170G>A" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.187236382G>A" "" "pathogenic (recessive)" "" "0000729288" "3" "90" "3" "186953771" "186953771" "subst" "0" "00006" "MASP1_000048" "g.186953771A>G" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.187235983A>G" "" "pathogenic (recessive)" "" "0000729289" "3" "90" "3" "186953771" "186953771" "subst" "0" "00006" "MASP1_000048" "g.186953771A>G" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.187235983A>G" "" "pathogenic (recessive)" "" "0000729290" "3" "90" "3" "186953662" "186953662" "subst" "0" "00006" "MASP1_000049" "g.186953662C>T" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.187235874C>T" "" "pathogenic (recessive)" "" "0000729291" "3" "90" "3" "186953662" "186953662" "subst" "0" "00006" "MASP1_000049" "g.186953662C>T" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.187235874C>T" "" "pathogenic (recessive)" "" "0000729292" "3" "90" "3" "186953662" "186953662" "subst" "0" "00006" "MASP1_000049" "g.186953662C>T" "" "{PMID:Rooryck 2011:21258343}" "" "" "" "Germline" "" "" "0" "" "" "g.187235874C>T" "" "pathogenic (recessive)" "" "0000729293" "3" "70" "3" "186953600" "186953600" "subst" "0" "00006" "MASP1_000050" "g.186953600C>T" "" "{PMID:Sirmaci 2010:21035106}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000729294" "3" "70" "3" "186953600" "186953600" "subst" "0" "00006" "MASP1_000050" "g.186953600C>T" "" "{PMID:Sirmaci 2010:21035106}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000729295" "3" "90" "3" "186970978" "186970978" "subst" "4.0618E-6" "00006" "MASP1_000051" "g.186970978C>T" "" "{PMID:Sirmaci 2010:21035106}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000763331" "0" "50" "3" "186937920" "186937920" "subst" "0" "03256" "MASP1_000053" "g.186937920A>G" "" "{DOI:Loules 2020:10.3390/jcm9113402 }" "" "" "nlC1-INH-HAE association. Variant c.2039T>C has been found combined with other alleles, as follows BDKRB1, c.844C>T; CPN1, c.1219G>A;p.(Glu407Lys); SERPING1, c.*57C>G; PLAUR, c.2039T>C;p.(Met268Val); TLR4, c.842G>A;p.(Cys281Tyr); MPO, c.1571G>A;p.(Arg524His)" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000763705" "0" "50" "3" "186959295" "186959295" "subst" "0.0122552" "00000" "MASP1_000029" "g.186959295C>T" "" "{PMID:Duvvari 2016:27007659}" "" "1277C>T" "" "Germline" "" "rs28945068" "0" "" "" "g.187241507C>T" "" "VUS" "" "0000763723" "0" "50" "3" "186959295" "186959295" "subst" "0.0122552" "00000" "MASP1_000029" "g.186959295C>T" "" "{PMID:Duvvari 2016:27007659}" "" "1277C>T" "" "Germline" "" "rs28945068" "0" "" "" "g.187241507C>T" "" "VUS" "" "0000763724" "0" "50" "3" "186974474" "186974474" "subst" "4.87539E-5" "00000" "MASP1_000054" "g.186974474G>A" "" "{PMID:Duvvari 2016:27007659}" "" "722G>A" "" "Germline" "" "" "0" "" "" "g.187256686G>A" "" "VUS" "" "0000801104" "0" "30" "3" "186938055" "186938055" "subst" "0.000168886" "01943" "MASP1_000055" "g.186938055T>G" "" "" "" "MASP1(NM_001879.5):c.1910-6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801105" "0" "30" "3" "186944256" "186944256" "subst" "1.64231E-5" "01943" "MASP1_000056" "g.186944256C>T" "" "" "" "MASP1(NM_001879.5):c.1494G>A (p.P498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801106" "0" "90" "3" "186953597" "186953597" "subst" "0" "01943" "MASP1_000057" "g.186953597C>A" "" "" "" "MASP1(NM_139125.3):c.2062G>T (p.G688*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801107" "0" "30" "3" "186961417" "186961417" "subst" "0" "01943" "MASP1_000058" "g.186961417A>G" "" "" "" "MASP1(NM_001879.5):c.1091-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962575" "0" "50" "3" "186974618" "186974618" "subst" "0" "01804" "MASP1_000036" "g.186974618C>T" "" "" "" "MASP1(NM_001031849.2):c.578G>A (p.(Arg193Lys)), MASP1(NM_001879.5):c.578G>A (p.R193K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975704" "0" "50" "3" "186940937" "186940937" "subst" "7.30905E-5" "01804" "MASP1_000060" "g.186940937C>A" "" "" "" "MASP1(NM_001879.6):c.1787G>T (p.(Arg596Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975705" "0" "50" "3" "186954139" "186954139" "subst" "0.000292545" "01804" "MASP1_000061" "g.186954139G>A" "" "" "" "MASP1(NM_139125.4):c.1520C>T (p.(Thr507Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993489" "0" "50" "3" "186940968" "186940968" "subst" "5.27893E-5" "01804" "MASP1_000004" "g.186940968C>A" "" "" "" "MASP1(NM_001879.5):c.1756G>T (p.V586F, p.(Val586Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993490" "0" "50" "3" "186974503" "186974503" "subst" "0" "01804" "MASP1_000062" "g.186974503T>C" "" "" "" "MASP1(NM_139125.3):c.693A>G (p.(Ile231Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020736" "0" "50" "3" "187003801" "187003801" "subst" "2.84768E-5" "03779" "MASP1_000064" "g.187003801C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs746649361" "0" "" "" "" "" "VUS" "" "0001020737" "0" "50" "3" "186953728" "186953728" "subst" "0.00034135" "03779" "MASP1_000063" "g.186953728G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs146714674" "0" "" "" "" "" "VUS" "" "0001033854" "0" "50" "3" "186938911" "186938911" "subst" "6.10844E-5" "01804" "MASP1_000065" "g.186938911C>T" "" "" "" "MASP1(NM_001879.6):c.1821G>A (p.(Pro607=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033855" "0" "50" "3" "186943260" "186943260" "subst" "5.27876E-5" "01804" "MASP1_000066" "g.186943260C>G" "" "" "" "MASP1(NM_001879.6):c.1593G>C (p.(Gln531His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033856" "0" "50" "3" "186954082" "186954082" "subst" "1.62537E-5" "01804" "MASP1_000067" "g.186954082C>T" "" "" "" "MASP1(NM_139125.4):c.1577G>A (p.(Arg526Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033857" "0" "50" "3" "186954284" "186954284" "subst" "5.28103E-5" "01804" "MASP1_000068" "g.186954284C>T" "" "" "" "MASP1(NM_139125.4):c.1375G>A (p.(Gly459Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045896" "0" "70" "3" "186953672" "186953672" "subst" "0" "02327" "MASP1_000040" "g.186953672C>A" "" "" "" "MASP1(NM_139125.4):c.1987G>T (p.D663Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 MASP1 ## Count = 130 "{{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}}" "0000248527" "00011834" "10" "1303" "4984" "1303" "4984" "c.1303+4984T>C" "r.(=)" "p.(=)" "" "0000248527" "00025597" "10" "1374" "0" "1374" "0" "c.1374T>C" "r.(?)" "p.(Pro458=)" "" "0000291522" "00011834" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(His375=)" "" "0000291522" "00025597" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(His375=)" "" "0000291523" "00011834" "50" "1303" "4931" "1303" "4931" "c.1303+4931C>T" "r.(=)" "p.(=)" "" "0000291523" "00025597" "50" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.(Arg441Cys)" "" "0000291524" "00011834" "50" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Gly476Arg)" "" "0000291524" "00025597" "50" "8096" "0" "8096" "0" "c.*5909G>A" "r.(=)" "p.(=)" "" "0000291525" "00011834" "30" "1303" "5131" "1303" "5131" "c.1303+5131G>A" "r.(=)" "p.(=)" "" "0000291525" "00025597" "30" "1521" "0" "1521" "0" "c.1521G>A" "r.(?)" "p.(Thr507=)" "" "0000291526" "00011834" "10" "1303" "5356" "1303" "5356" "c.1303+5356G>A" "r.(=)" "p.(=)" "" "0000291526" "00025597" "10" "1746" "0" "1746" "0" "c.1746G>A" "r.(?)" "p.(Pro582=)" "" "0000291527" "00011834" "30" "1303" "5363" "1303" "5363" "c.1303+5363C>A" "r.(=)" "p.(=)" "" "0000291527" "00025597" "30" "1753" "0" "1753" "0" "c.1753C>A" "r.(?)" "p.(His585Asn)" "" "0000291528" "00011834" "50" "1756" "0" "1756" "0" "c.1756G>T" "r.(?)" "p.(Val586Phe)" "" "0000291528" "00025597" "50" "14691" "0" "14691" "0" "c.*12504G>T" "r.(=)" "p.(=)" "" "0000291529" "00011834" "10" "5" "4" "5" "4" "c.5+4C>T" "r.spl?" "p.?" "" "0000291529" "00025597" "10" "5" "4" "5" "4" "c.5+4C>T" "r.spl?" "p.?" "" "0000291530" "00011834" "90" "649" "0" "649" "0" "c.649G>T" "r.(?)" "p.(Glu217Ter)" "" "0000291530" "00025597" "90" "649" "0" "649" "0" "c.649G>T" "r.(?)" "p.(Glu217Ter)" "" "0000291531" "00011834" "50" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Tyr244Cys)" "" "0000291531" "00025597" "50" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Tyr244Cys)" "" "0000291532" "00011834" "30" "910" "0" "910" "0" "c.910C>A" "r.(?)" "p.(Leu304Ile)" "" "0000291532" "00025597" "30" "910" "0" "910" "0" "c.910C>A" "r.(?)" "p.(Leu304Ile)" "" "0000329757" "00011834" "50" "1303" "5789" "1303" "5789" "c.1303+5789G>A" "r.(=)" "p.(=)" "" "0000329757" "00025597" "50" "2179" "0" "2179" "0" "c.2179G>A" "r.(?)" "p.(Glu727Lys)" "" "0000346177" "00011834" "50" "1303" "5373" "1303" "5373" "c.1303+5373G>A" "r.(=)" "p.(=)" "" "0000346177" "00025597" "50" "1763" "0" "1763" "0" "c.1763G>A" "r.(?)" "p.(Gly588Asp)" "" "0000518702" "00011834" "30" "1909" "5" "1909" "5" "c.1909+5G>A" "r.spl?" "p.?" "" "0000518702" "00025597" "30" "16841" "0" "16841" "0" "c.*14654G>A" "r.(=)" "p.(=)" "" "0000518703" "00011834" "50" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(His541Tyr)" "" "0000518703" "00025597" "50" "12427" "0" "12427" "0" "c.*10240C>T" "r.(=)" "p.(=)" "" "0000518705" "00011834" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Ala488=)" "" "0000518705" "00025597" "30" "11373" "0" "11373" "0" "c.*9186C>T" "r.(=)" "p.(=)" "" "0000518706" "00011834" "30" "1442" "-5" "1442" "-5" "c.1442-5C>G" "r.spl?" "p.?" "" "0000518706" "00025597" "30" "11346" "0" "11346" "0" "c.*9159C>G" "r.(=)" "p.(=)" "" "0000518707" "00011834" "30" "1442" "-5" "1442" "-5" "c.1442-5C>G" "r.spl?" "p.?" "" "0000518707" "00025597" "30" "11346" "0" "11346" "0" "c.*9159C>G" "r.(=)" "p.(=)" "" "0000518708" "00011834" "30" "1303" "5337" "1303" "5337" "c.1303+5337G>T" "r.(=)" "p.(=)" "" "0000518708" "00025597" "30" "1727" "0" "1727" "0" "c.1727G>T" "r.(?)" "p.(Arg576Met)" "" "0000518709" "00011834" "50" "1303" "5117" "1303" "5117" "c.1303+5117C>T" "r.(=)" "p.(=)" "" "0000518709" "00025597" "50" "1507" "0" "1507" "0" "c.1507C>T" "r.(?)" "p.(Arg503Cys)" "" "0000518710" "00011834" "30" "1303" "5005" "1303" "5005" "c.1303+5005C>T" "r.(=)" "p.(=)" "" "0000518710" "00025597" "30" "1395" "0" "1395" "0" "c.1395C>T" "r.(?)" "p.(Ala465=)" "" "0000518712" "00011834" "30" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Gly426Glu)" "" "0000518712" "00025597" "30" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Gly426Glu)" "" "0000518713" "00011834" "30" "1164" "0" "1164" "0" "c.1164A>G" "r.(?)" "p.(Thr388=)" "" "0000518713" "00025597" "30" "1164" "0" "1164" "0" "c.1164A>G" "r.(?)" "p.(Thr388=)" "" "0000518715" "00011834" "30" "1090" "2877" "1090" "2877" "c.1090+2877G>A" "r.(=)" "p.(=)" "" "0000518715" "00025597" "30" "1090" "2877" "1090" "2877" "c.1090+2877G>A" "r.(=)" "p.(=)" "" "0000518719" "00011834" "30" "910" "0" "910" "0" "c.910C>A" "r.(?)" "p.(Leu304Ile)" "" "0000518719" "00025597" "30" "910" "0" "910" "0" "c.910C>A" "r.(?)" "p.(Leu304Ile)" "" "0000518720" "00011834" "30" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Pro267Leu)" "" "0000518720" "00025597" "30" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Pro267Leu)" "" "0000518721" "00011834" "50" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193Lys)" "" "0000518721" "00025597" "50" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193Lys)" "" "0000518722" "00011834" "50" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000518722" "00025597" "50" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000518724" "00011834" "50" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127His)" "" "0000518724" "00025597" "50" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127His)" "" "0000654861" "00011834" "50" "1672" "0" "1672" "0" "c.1672C>G" "r.(?)" "p.(Leu558Val)" "" "0000654861" "00025597" "50" "12478" "0" "12478" "0" "c.*10291C>G" "r.(=)" "p.(=)" "" "0000676902" "00011834" "30" "1303" "5400" "1303" "5400" "c.1303+5400A>G" "r.(=)" "p.(=)" "" "0000676902" "00025597" "30" "1790" "0" "1790" "0" "c.1790A>G" "r.(?)" "p.(Asn597Ser)" "" "0000676903" "00011834" "50" "1303" "5117" "1303" "5117" "c.1303+5117C>T" "r.(=)" "p.(=)" "" "0000676903" "00025597" "50" "1507" "0" "1507" "0" "c.1507C>T" "r.(?)" "p.(Arg503Cys)" "" "0000676904" "00011834" "30" "1216" "0" "1216" "0" "c.1216A>C" "r.(?)" "p.(Asn406His)" "" "0000676904" "00025597" "30" "1216" "0" "1216" "0" "c.1216A>C" "r.(?)" "p.(Asn406His)" "" "0000688995" "00011834" "30" "1910" "-4" "1910" "-4" "c.1910-4C>G" "r.spl?" "p.?" "" "0000688995" "00025597" "30" "17606" "0" "17606" "0" "c.*15419C>G" "r.(=)" "p.(=)" "" "0000688996" "00011834" "30" "1303" "5383" "1303" "5383" "c.1303+5383C>T" "r.(=)" "p.(=)" "" "0000688996" "00025597" "30" "1773" "0" "1773" "0" "c.1773C>T" "r.(?)" "p.(Ala591=)" "" "0000716630" "00011834" "90" "9" "0" "9" "0" "c.9G>A" "r.(?)" "p.(Trp3*)" "" "0000719305" "00011834" "50" "1303" "5597" "1303" "5597" "c.1303+5597G>T" "r.(=)" "p.(=)" "" "0000719305" "00025597" "50" "1987" "0" "1987" "0" "c.1987G>T" "r.(?)" "p.(Asp663Tyr)" "" "0000719306" "00011834" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Asn385=)" "" "0000719306" "00025597" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Asn385=)" "" "0000729287" "00011834" "90" "1303" "5099" "1303" "5099" "c.1303+5099C>T" "r.(?)" "p.(?)" "" "0000729287" "00025597" "90" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(His497Tyr)" "" "0000729288" "00011834" "90" "1303" "5498" "1303" "5498" "c.1303+5498T>C" "r.(?)" "p.(=)" "" "0000729288" "00025597" "90" "1888" "0" "1888" "0" "c.1888T>C" "r.(?)" "p.(Cys630Arg)" "" "0000729289" "00011834" "90" "1303" "5498" "1303" "5498" "c.1303+5498T>C" "r.(?)" "p.(=)" "" "0000729289" "00025597" "90" "1888" "0" "1888" "0" "c.1888T>C" "r.(?)" "p.(Cys630Arg)" "" "0000729290" "00011834" "90" "1303" "5607" "1303" "5607" "c.1303+5607G>A" "r.(?)" "p.(=)" "" "0000729290" "00025597" "90" "1997" "0" "1997" "0" "c.1997G>A" "r.(?)" "p.(Gly666Glu)" "" "0000729291" "00011834" "90" "1303" "5607" "1303" "5607" "c.1303+5607G>A" "r.(?)" "p.(=)" "" "0000729291" "00025597" "90" "1997" "0" "1997" "0" "c.1997G>A" "r.(?)" "p.(Gly666Glu)" "" "0000729292" "00011834" "90" "1303" "5607" "1303" "5607" "c.1303+5607G>A" "r.(?)" "p.(=)" "" "0000729292" "00025597" "90" "1997" "0" "1997" "0" "c.1997G>A" "r.(?)" "p.(Gly666Glu)" "" "0000729293" "00011834" "70" "1303" "5669" "1303" "5669" "c.1303+5669G>A" "r.(?)" "p.(=)" "" "0000729293" "00025597" "70" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Gly687Arg)" "" "0000729294" "00011834" "70" "1303" "5669" "1303" "5669" "c.1303+5669G>A" "r.(?)" "p.(=)" "" "0000729294" "00025597" "70" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Gly687Arg)" "" "0000729295" "00011834" "90" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Trp290*)" "" "0000729295" "00025597" "90" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Trp290*)" "" "0000763331" "00011834" "50" "2039" "0" "2039" "0" "c.2039T>C" "r.(?)" "p.(Val680Ala)" "16" "0000763331" "00025597" "50" "17739" "0" "17739" "0" "c.*15552T>C" "r.(=)" "p.(=)" "" "0000763705" "00011834" "50" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Gly426Glu)" "" "0000763723" "00011834" "50" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Gly426Glu)" "" "0000763724" "00011834" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Pro241Leu)" "" "0000801104" "00011834" "30" "1910" "-6" "1910" "-6" "c.1910-6A>C" "r.(=)" "p.(=)" "" "0000801104" "00025597" "30" "17604" "0" "17604" "0" "c.*15417A>C" "r.(=)" "p.(=)" "" "0000801105" "00011834" "30" "1494" "0" "1494" "0" "c.1494G>A" "r.(?)" "p.(Pro498=)" "" "0000801105" "00025597" "30" "11403" "0" "11403" "0" "c.*9216G>A" "r.(=)" "p.(=)" "" "0000801106" "00011834" "90" "1303" "5672" "1303" "5672" "c.1303+5672G>T" "r.(=)" "p.(=)" "" "0000801106" "00025597" "90" "2062" "0" "2062" "0" "c.2062G>T" "r.(?)" "p.(Gly688*)" "" "0000801107" "00011834" "30" "1091" "-8" "1091" "-8" "c.1091-8T>C" "r.(=)" "p.(=)" "" "0000801107" "00025597" "30" "1091" "-8" "1091" "-8" "c.1091-8T>C" "r.(=)" "p.(=)" "" "0000962575" "00011834" "50" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193Lys)" "" "0000962575" "00025597" "50" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193Lys)" "" "0000975704" "00011834" "50" "1787" "0" "1787" "0" "c.1787G>T" "r.(?)" "p.(Arg596Met)" "" "0000975704" "00025597" "50" "14722" "0" "14722" "0" "c.*12535G>T" "r.(=)" "p.(=)" "" "0000975705" "00011834" "50" "1303" "5130" "1303" "5130" "c.1303+5130C>T" "r.(=)" "p.(=)" "" "0000975705" "00025597" "50" "1520" "0" "1520" "0" "c.1520C>T" "r.(?)" "p.(Thr507Met)" "" "0000993489" "00011834" "50" "1756" "0" "1756" "0" "c.1756G>T" "r.(?)" "p.(Val586Phe)" "" "0000993489" "00025597" "50" "14691" "0" "14691" "0" "c.*12504G>T" "r.(=)" "p.(=)" "" "0000993490" "00011834" "50" "693" "0" "693" "0" "c.693A>G" "r.(?)" "p.(Ile231Met)" "" "0000993490" "00025597" "50" "693" "0" "693" "0" "c.693A>G" "r.(?)" "p.(Ile231Met)" "" "0001020736" "00025597" "50" "49" "0" "49" "0" "c.49G>T" "r.(?)" "p.(Ala17Ser)" "" "0001020737" "00025597" "50" "1931" "0" "1931" "0" "c.1931C>T" "r.(?)" "p.(Thr644Met)" "" "0001033854" "00011834" "50" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(=)" "" "0001033854" "00025597" "50" "16748" "0" "16748" "0" "c.*14561G>A" "r.(=)" "p.(=)" "" "0001033855" "00011834" "50" "1593" "0" "1593" "0" "c.1593G>C" "r.(?)" "p.(Gln531His)" "" "0001033855" "00025597" "50" "12399" "0" "12399" "0" "c.*10212G>C" "r.(=)" "p.(=)" "" "0001033856" "00011834" "50" "1303" "5187" "1303" "5187" "c.1303+5187G>A" "r.(=)" "p.(=)" "" "0001033856" "00025597" "50" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "0001033857" "00011834" "50" "1303" "4985" "1303" "4985" "c.1303+4985G>A" "r.(=)" "p.(=)" "" "0001033857" "00025597" "50" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Gly459Ser)" "" "0001045896" "00011834" "70" "1303" "5597" "1303" "5597" "c.1303+5597G>T" "r.(=)" "p.(=)" "" "0001045896" "00025597" "70" "1987" "0" "1987" "0" "c.1987G>T" "r.(?)" "p.(Asp663Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000332024" "0000716630" "0000332038" "0000729287" "0000332039" "0000729288" "0000332040" "0000729289" "0000332041" "0000729290" "0000332042" "0000729291" "0000332043" "0000729292" "0000332044" "0000729293" "0000332045" "0000729294" "0000332046" "0000729295" "0000360848" "0000763331" "0000363227" "0000763705" "0000363229" "0000763723" "0000363229" "0000763724"