### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BMPR1B) # 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}}" "BMPR1B" "bone morphogenetic protein receptor, type IB" "4" "q23-q24" "unknown" "NG_009245.1" "UD_137872968076" "" "https://www.LOVD.nl/BMPR1B" "" "1" "1077" "658" "603248" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/BMPR1B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-16 18:32:48" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00003436" "BMPR1B" "bone morphogenetic protein receptor, type IB" "001" "NM_001203.2" "" "NP_001194.1" "" "" "" "-274" "5286" "1509" "95679128" "96079601" "" "0000-00-00 00:00:00" "" "" "00023846" "BMPR1B" "transcript variant 1" "005" "NM_001256793.1" "" "NP_001243722.1" "" "" "" "-21" "5376" "1599" "95972830" "96079601" "00006" "2013-10-20 14:26:01" "" "" "00023847" "BMPR1B" "transcript variant 3" "003" "NM_001256792.1" "" "NP_001243721.1" "" "" "" "-170" "5286" "1509" "95917383" "96079601" "00006" "2013-10-20 14:26:02" "" "" "00023848" "BMPR1B" "transcript variant 4" "006" "NM_001256794.1" "" "NP_001243723.1" "" "" "" "-154" "5286" "1509" "96012642" "96079601" "00006" "2013-10-20 14:26:02" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00179" "BDB1" "brachydactyly, type B1 (BDB1)" "AD" "113000" "" "" "" "00115" "2013-08-28 18:20:45" "00006" "2020-09-29 10:08:02" "00184" "BDA2" "brachydactyly, type A2 (BD-A2)" "AD" "112600" "" "" "" "00006" "2013-09-02 22:18:15" "00006" "2021-12-10 21:51:32" "00185" "AMD3" "dysplasia, acromesomelic, type 3, Demirhan" "AR" "609441" "" "" "" "00006" "2013-09-02 22:20:13" "00006" "2021-12-16 18:31:40" "00191" "AMD2A" "dysplasia, acromesomelic, type 2A, Grebe" "AR" "200700" "" "" "" "00006" "2013-09-08 14:51:28" "00006" "2021-12-16 17:35:12" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "04227" "BD" "brachydactyly (BD)" "" "" "" "" "" "00006" "2015-03-14 21:49:37" "" "" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" "06618" "BDA1D" "Brachydactyly, type A1, D" "AD" "616849" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06885" "AMD" "dysplasia, acromesomelic" "" "" "" "" "" "00006" "2021-12-16 18:32:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "BMPR1B" "00184" "BMPR1B" "00185" "BMPR1B" "06618" "BMPR1B" "06885" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00002458" "" "" "" "1" "" "00120" "{PMID:Graul-Neumann 2013:24129431}" "" "F" "yes" "Lebanon" "" "0" "" "" "lebanese" "" "00002459" "" "" "" "1" "" "00120" "{PMID:Graul-Neumann 2013:24129431}" "family, 2 affecteds (IIa, IIb)" "M" "yes" "Pakistan" "" "0" "" "" "pakistani" "" "00002460" "" "" "" "1" "" "00120" "{PMID:Graul-Neumann 2013:24129431}" "family, 2 affecteds (IIa, IIb)" "M" "yes" "Pakistan" "" "0" "" "" "pakistani" "" "00029686" "" "" "" "1" "" "00076" "{PMID:Racacho 2015:25758993}, {DOI:Racacho 2015:10.1038/ejhg.2015.38}" "" "F" "no" "(Canada)" "" "0" "" "" "white" "" "00034378" "" "" "" "2" "" "00076" "{PMID:Racacho 2015:25758993}, {DOI:Racacho 2015:10.1038/ejhg.2015.38}" "2-generation family, affected male with unaffected carrier mother (reduced penetrance?)" "M" "no" "" "" "0" "" "" "African" "" "00081434" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00107535" "" "" "" "7" "" "02147" "{PMID:Yildrim 2018:29581481}" "family, 7 affecteds (3M, 4F), parents first cousins" "M" "yes" "Algeria" ">31y" "0" "Yes" "" "" "FAM53-412" "00133223" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "" "M" "yes" "Algeria" ">43y" "0" "" "" "" "FAM53-401" "00133226" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "" "M" "yes" "Algeria" ">37y" "0" "" "" "" "FAM53-406" "00133227" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "" "F" "yes" "Algeria" ">36y" "0" "" "" "" "FAM53-408" "00133228" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "" "F" "yes" "Algeria" ">62y" "0" "" "" "" "FAM53-302" "00133229" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "brother" "M" "yes" "Algeria" ">43y" "0" "" "" "" "FAM53-409" "00133230" "" "" "00107535" "1" "" "02147" "{PMID:Yildrim 2018:29581481}" "" "M" "yes" "Algeria" ">30y" "0" "" "" "" "FAM53-413" "00293677" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00002458" "00191" "00002459" "00191" "00002460" "00191" "00029686" "00179" "00034378" "04227" "00081434" "05155" "00107535" "00201" "00107535" "04227" "00133223" "00201" "00133223" "04227" "00133226" "00201" "00133226" "04227" "00133227" "00201" "00133227" "04227" "00133228" "04227" "00133229" "00201" "00133229" "04227" "00133230" "00201" "00133230" "04227" "00293677" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00179, 00184, 00185, 00191, 00198, 00201, 04227, 05155, 06618, 06885 ## Count = 18 "{{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}}" "0000001420" "00191" "00002458" "00120" "Familial, autosomal recessive" "" "" "" "2y" "" "" "" "" "" "" "" "" "" "0000001421" "00191" "00002459" "00120" "Familial, autosomal recessive" "" "" "" "15y" "" "" "" "" "" "" "" "" "" "0000001422" "00191" "00002460" "00120" "Familial, autosomal recessive" "" "" "" "19y" "" "" "" "" "" "" "" "" "" "0000025758" "00179" "00029686" "00076" "Isolated (sporadic)" "01y04m" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000027780" "04227" "00034378" "00076" "Isolated (sporadic)" "" "mixed BDA1-arachnodactyly condition" "" "" "" "" "" "" "" "" "" "" "" "0000061036" "05155" "00081434" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum;\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "" "" "0000085328" "04227" "00107535" "02147" "Familial, autosomal recessive" "" "Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), symphalangism of the 3rd finger (HP:0009445), no symphalangism of the 4th finger (-HP:0009857), symphalangism of the 5th finger (HP:0004218), thumb brachydactyly (HP:0009778), short 2nd finger (HP:0009536), 5th finger brachydactyly (HP:0009237), camptodactyly of the 3rd finger (HP:0009471), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173)" "" "" "yeserin@gmail.com" "" "" "" "" "" "" "" "" "0000106396" "00201" "00107535" "02147" "Familial, autosomal recessive" "" "male infertility (HP:0003251), azoospemia (HP:0000027)" "" "" "yeserin@gmail.com" "" "" "" "" "" "SPGF70" "" "" "0000106797" "04227" "00133227" "02147" "Familial, autosomal recessive" "" "Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), symphalangism of the 5th finger (HP:0004218), no thumb brachydactyly (-HP:0009778), crowded carpal bones unknown (?HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), no short 5th toe (-HP:0011917), duplication of the phalanges of the 2nd toe unknown (?HP:0010355), aplasia/hypoplasia of the phalanges of the toes unknown (?HP:0010173)" "" "" "" "" "" "" "" "" "" "" "" "0000106798" "04227" "00133226" "02147" "Familial, autosomal recessive" "" "no symphalangism of the thumb (-HP:0009656), Symphalangism of the 2nd finger (HP:0009545), no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778), no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), no hallux valgus (-HP:0001822), 2-3 toe syndactyly (HP:0004691), short 5th toe (HP:0011917), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173)" "" "" "" "" "" "" "" "" "" "" "" "0000106799" "00201" "00133226" "02147" "Familial, autosomal recessive" "" "male infertility (HP:0003251), azoospemia (HP:0000027)" "" "" "" "" "" "" "" "" "SPGF70" "" "" "0000106800" "04227" "00133223" "02147" "Familial, autosomal recessive" "" "Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), symphalangism of the 3rd finger (HP:0009445), symphalangism of the 4th finger (HP:0009857), no symphalangism of the 5th finger (-HP:0004218), thumb brachydactyly (HP:0009778), 5th finger camptodactyly (HP:0009185), curved phalanges of the 2nd finger (HP:0009549), curved phalanges of the 3rd finger (HP:0009442), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), short 5th toe (HP:0011917), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173)" "" "" "" "" "" "" "" "" "" "" "" "0000106801" "00201" "00133223" "02147" "Familial, autosomal recessive" "" "male infertility (HP:0003251), oligospermia (HP:0000798), asthenospermia (HP:0012207)" "" "" "" "" "" "" "" "" "SPGF70" "" "" "0000106802" "04227" "00133228" "02147" "Familial, autosomal recessive" "" "no symphalangism of the thumb (-HP:0009656), no symphalangism of the 2nd finger (-HP:0009545),no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778), no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), no crowded carpal bones (-HP:0006180), no short hallux (-HP:0010109), no broad hallux (-HP:0010055), no hallux valgus (-HP:0001822), no 2-3 toe syndactyly (-HP:0004691), no camptodactyly of 3rd toe (-HP:0100349), no camptodactyly of the 4th toe (-HP:0100350), no short 5th toe (-HP:0011917), no duplication of the phalanges of the 2nd toe (-HP:0010355), no aplasia/hypoplasia of the phalanges of the toes (-HP:0010173)" "" "" "" "" "" "" "" "" "" "" "" "0000106803" "04227" "00133229" "02147" "Familial, autosomal recessive" "" "no symphalangism of the thumb (-HP:0009656), no symphalangism of the 2nd finger (-HP:0009545),no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778), no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), no short hallux (-HP:0010109), no broad hallux (-HP:0010055), no hallux valgus (-HP:0001822), no 2-3 toe syndactyly (-HP:0004691), no camptodactyly of 3rd toe (-HP:0100349), no camptodactyly of the 4th toe (-HP:0100350), no short 5th toe (-HP:0011917), no duplication of the phalanges of the 2nd toe (-HP:0010355), no aplasia/hypoplasia of the phalanges of the toes (-HP:0010173)" "" "" "" "" "" "" "" "" "" "" "" "0000106804" "00201" "00133229" "02147" "Familial, autosomal recessive" "" "no male infertility (-HP:0003251), no azoospemia (-HP:0000027), no oligospermia (-HP:0000798), no asthenospermia (-HP:0012207), Nonmotile sperm (HP:0012208)" "" "" "" "" "" "" "" "" "" "" "" "0000106805" "04227" "00133230" "02147" "Familial, autosomal recessive" "" "no symphalangism of the thumb (-HP:0009656), no symphalangism of the 2nd finger (-HP:0009545),no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778),no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), no short hallux (-HP:0010109), no broad hallux (-HP:0010055), no hallux valgus (HP:0001822), no 2-3 toe syndactyly (-HP:0004691), camptodactyly of 3rd toe (HP:0100349), camptodactyly of the 4th toe (HP:0100350), no short 5th toe (-HP:0011917), no duplication of the phalanges of the 2nd toe (-HP:0010355), no aplasia/hypoplasia of the phalanges of the toes (-HP:0010173)" "" "" "" "" "" "" "" "" "" "" "" "0000106806" "00201" "00133230" "02147" "Familial, autosomal recessive" "" "male infertility unknown (?HP:0003251), azoospemia unknown (?HP:0000027), oligospermia unknown (?HP:0000798), asthenospermia unknown (?HP:0012207), Nonmotile sperm unknown (?HP:0012208)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002330" "00002458" "1" "00120" "00120" "2013-09-08 18:10:04" "" "" "SEQ" "DNA" "" "" "0000002331" "00002459" "1" "00120" "00120" "2013-09-08 18:10:04" "" "" "SEQ" "DNA" "" "" "0000002332" "00002460" "1" "00120" "00120" "2013-09-08 18:10:04" "" "" "SEQ" "DNA" "" "" "0000029733" "00029686" "1" "00076" "00076" "2015-01-27 17:14:14" "" "" "SEQ" "DNA" "Whole Blood" "" "0000034447" "00034378" "1" "00076" "00076" "2015-01-27 17:28:20" "" "" "SEQ" "DNA" "" "" "0000081571" "00081434" "1" "01783" "01783" "2016-10-14 03:49:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000108007" "00107535" "1" "02147" "02147" "2017-07-12 20:22:48" "" "" "arraySNP;SEQ;SEQ-NG-I" "DNA" "whole blood" "" "0000134058" "00133223" "1" "02147" "02147" "2017-11-13 14:48:28" "" "" "SSCA" "DNA" "Whole blood" "" "0000134061" "00133226" "1" "02147" "02147" "2017-11-13 15:07:55" "" "" "SSCA" "DNA" "Whole blood" "" "0000134062" "00133227" "1" "02147" "02147" "2017-11-13 15:57:47" "" "" "SSCA" "DNA" "Whole blood" "" "0000134063" "00133228" "1" "02147" "02147" "2017-11-13 16:15:31" "" "" "SSCA" "DNA" "Whole blood" "" "0000134064" "00133229" "1" "02147" "02147" "2017-11-13 19:43:06" "" "" "SSCA" "DNA" "Whole blood" "" "0000134065" "00133230" "1" "02147" "02147" "2017-11-13 20:39:16" "" "" "SSCA" "DNA" "Whole blood" "" "0000294845" "00293677" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000002330" "BMPR1B" "0000002331" "BMPR1B" "0000002332" "BMPR1B" "0000029733" "BMPR1B" "0000034447" "BMPR1B" "0000081571" "BMPR1B" "0000134058" "BMPR1B" "0000134058" "PDHA2" "0000134061" "BMPR1B" "0000134061" "PDHA2" "0000134062" "BMPR1B" "0000134062" "PDHA2" "0000134063" "BMPR1B" "0000134063" "PDHA2" "0000134064" "BMPR1B" "0000134064" "PDHA2" "0000134065" "BMPR1B" "0000134065" "PDHA2" ## 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 = 46 "{{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}}" "0000020611" "10" "95" "4" "96035884" "96035884" "subst" "0" "00120" "BMPR1B_000001" "g.96035884T>C" "" "{PMID:Graul-Neumann 2013:24129431}" "" "" "" "Germline" "" "" "0" "" "" "g.95114733T>C" "" "pathogenic" "" "0000020612" "20" "95" "4" "96035884" "96035884" "subst" "0" "00120" "BMPR1B_000001" "g.96035884T>C" "" "{PMID:Graul-Neumann 2013:24129431}" "" "" "" "Germline" "" "" "0" "" "" "g.95114733T>C" "" "pathogenic" "" "0000020613" "10" "95" "4" "96051084" "96051084" "subst" "0" "00120" "BMPR1B_000002" "g.96051084G>A" "" "{PMID:Graul-Neumann 2013:24129431}" "" "" "" "Germline" "" "" "0" "" "" "g.95129933G>A" "" "pathogenic" "" "0000020614" "20" "95" "4" "96051084" "96051084" "subst" "0" "00120" "BMPR1B_000002" "g.96051084G>A" "" "{PMID:Graul-Neumann 2013:24129431}" "" "" "" "Germline" "" "" "0" "" "" "g.95129933G>A" "" "pathogenic" "" "0000020615" "10" "95" "4" "96051084" "96051084" "subst" "0" "00120" "BMPR1B_000002" "g.96051084G>A" "" "{PMID:Graul-Neumann 2013:24129431}" "" "" "" "Germline" "" "" "0" "" "" "g.95129933G>A" "" "pathogenic" "" "0000020616" "20" "95" "4" "96051084" "96051084" "subst" "0" "00120" "BMPR1B_000002" "g.96051084G>A" "" "{PMID:Graul-Neumann 2013:24129431}" "" "" "" "Germline" "" "" "0" "" "" "g.95129933G>A" "" "pathogenic" "" "0000053135" "0" "90" "4" "96052562" "96052562" "subst" "0" "00076" "BMPR1B_000003" "g.96052562A>C" "" "{PMID:Racacho 2015:25758993}, {DOI:Racacho 2015:10.1038/ejhg.2015.38}" "" "" "probably de novo (father not available); not in 200 control chromosomes" "Unknown" "-" "" "0" "" "" "g.95131411A>C" "" "pathogenic" "" "0000053136" "21" "90" "4" "96046133" "96046133" "subst" "0" "00076" "BMPR1B_000004" "g.96046133g>a" "" "{PMID:Racacho 2015:25758993}, {DOI:Racacho 2015:10.1038/ejhg.2015.38}" "" "" "not in 200 control chromosomes\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.95124982g>a" "" "pathogenic" "" "0000132234" "0" "50" "4" "96052611" "96052611" "subst" "2.03194E-5" "01783" "BMPR1B_000005" "g.96052611A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.95131460A>G" "" "VUS" "" "0000173833" "3" "90" "4" "96051067" "96051067" "subst" "0" "02147" "BMPR1B_000006" "g.96051067C>T" "4/4 patients" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95129916C>T" "" "pathogenic" "" "0000223732" "3" "90" "4" "96051067" "96051067" "subst" "0" "02147" "BMPR1B_000006" "g.96051067C>T" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95129916C>T" "" "pathogenic" "" "0000223734" "3" "90" "4" "96051067" "96051067" "subst" "0" "02147" "BMPR1B_000006" "g.96051067C>T" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95129916C>T" "" "pathogenic" "" "0000223736" "3" "90" "4" "96051067" "96051067" "subst" "0" "02147" "BMPR1B_000006" "g.96051067C>T" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95129916C>T" "" "pathogenic" "" "0000223738" "0" "90" "4" "96051067" "96051067" "subst" "0" "02147" "BMPR1B_000006" "g.96051067C>T" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95129916C>T" "" "pathogenic" "" "0000223740" "0" "90" "4" "96051067" "96051067" "subst" "0" "02147" "BMPR1B_000006" "g.96051067C>T" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95129916C>T" "" "pathogenic" "" "0000223742" "0" "90" "4" "96051067" "96051067" "subst" "0" "02147" "BMPR1B_000006" "g.96051067C>T" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95129916C>T" "" "pathogenic" "" "0000263734" "0" "50" "4" "96075833" "96075833" "subst" "0.00340108" "01943" "BMPR1B_000009" "g.96075833G>C" "" "" "" "BMPR1B(NM_001203.2):c.*9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95154682G>C" "" "VUS" "" "0000263735" "0" "90" "4" "96052380" "96052380" "subst" "0" "01943" "BMPR1B_000007" "g.96052380G>A" "" "" "" "BMPR1B(NM_001203.2):c.793G>A (p.D265N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95131229G>A" "" "pathogenic" "" "0000344616" "0" "50" "4" "96046145" "96046145" "subst" "1.22158E-5" "02327" "BMPR1B_000010" "g.96046145A>G" "" "" "" "BMPR1B(NM_001203.3):c.458A>G (p.(Gln153Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95124994A>G" "" "VUS" "" "0000523575" "0" "30" "4" "95972917" "95972917" "subst" "0.000380746" "01804" "BMPR1B_000012" "g.95972917A>G" "" "" "" "BMPR1B(NM_001256793.1):c.67A>G (p.(Thr23Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95051766A>G" "" "likely benign" "" "0000523576" "0" "50" "4" "96025586" "96025586" "subst" "0.000370515" "01804" "BMPR1B_000013" "g.96025586G>A" "" "" "" "BMPR1B(NM_001203.2):c.11G>A (p.(Arg4Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95104435G>A" "" "VUS" "" "0000523577" "0" "30" "4" "96036832" "96036832" "subst" "0.00150276" "01804" "BMPR1B_000014" "g.96036832A>G" "" "" "" "BMPR1B(NM_001203.2):c.247-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95115681A>G" "" "likely benign" "" "0000609338" "0" "50" "4" "96036861" "96036861" "subst" "7.73376E-5" "01804" "BMPR1B_000015" "g.96036861G>T" "" "" "" "BMPR1B(NM_001203.2):c.272G>T (p.(Arg91Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95115710G>T" "" "VUS" "" "0000609339" "0" "30" "4" "96075691" "96075691" "subst" "0.00303055" "01804" "BMPR1B_000018" "g.96075691T>C" "" "" "" "BMPR1B(NM_001203.2):c.1384-8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95154540T>C" "" "likely benign" "" "0000621435" "0" "50" "4" "96045029" "96045029" "subst" "0.00128251" "01943" "BMPR1B_000016" "g.96045029G>A" "" "" "" "BMPR1B(NM_001203.2):c.418G>A (p.V140I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95123878G>A" "" "VUS" "" "0000621436" "0" "30" "4" "96052652" "96052652" "subst" "0.000613941" "01943" "BMPR1B_000017" "g.96052652T>A" "" "" "" "BMPR1B(NM_001203.2):c.1065T>A (p.V355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95131501T>A" "" "likely benign" "" "0000651534" "1" "30" "4" "96025667" "96025667" "subst" "0.000166786" "03575" "BMPR1B_000019" "g.96025667G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200035802}" "Germline" "" "rs200035802" "0" "" "" "g.95104516G>A" "" "likely benign" "" "0000677341" "0" "50" "4" "95972851" "95972851" "subst" "4.85964E-5" "01943" "BMPR1B_000020" "g.95972851A>G" "" "" "" "BMPR1B(NM_001256793.1):c.1A>G (p.M1?), BMPR1B(NM_001256793.2):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677342" "0" "30" "4" "96045041" "96045041" "subst" "0.000272866" "01943" "BMPR1B_000021" "g.96045041T>C" "" "" "" "BMPR1B(NM_001203.2):c.430T>C (p.L144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677343" "0" "50" "4" "96046151" "96046151" "subst" "0" "01804" "BMPR1B_000022" "g.96046151C>G" "" "" "" "BMPR1B(NM_001203.2):c.464C>G (p.(Thr155Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677344" "0" "50" "4" "96051098" "96051098" "subst" "0.000938841" "01804" "BMPR1B_000023" "g.96051098G>A" "" "" "" "BMPR1B(NM_001203.2):c.671G>A (p.(Arg224His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720047" "0" "50" "4" "96069934" "96069934" "subst" "0.00102371" "01943" "BMPR1B_000024" "g.96069934G>A" "" "" "" "BMPR1B(NM_001203.2):c.1112G>A (p.R371Q, p.(Arg371Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886454" "0" "30" "4" "96025646" "96025646" "subst" "0" "01804" "BMPR1B_000025" "g.96025646C>T" "" "" "" "BMPR1B(NM_001203.2):c.71C>T (p.(Thr24Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886455" "0" "30" "4" "96045056" "96045056" "subst" "0.00197122" "02325" "BMPR1B_000026" "g.96045056C>T" "" "" "" "BMPR1B(NM_001203.3):c.445C>T (p.R149W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976428" "0" "50" "4" "96051153" "96051153" "subst" "7.31339E-5" "01804" "BMPR1B_000027" "g.96051153C>G" "" "" "" "BMPR1B(NM_001203.3):c.726C>G (p.(Phe242Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976429" "0" "50" "4" "96052494" "96052494" "subst" "2.03166E-5" "01804" "BMPR1B_000028" "g.96052494A>C" "" "" "" "BMPR1B(NM_001203.3):c.907A>C (p.(Lys303Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994509" "0" "50" "4" "96025568" "96025568" "subst" "4.07385E-6" "01804" "BMPR1B_000029" "g.96025568T>C" "" "" "" "BMPR1B(NM_001203.2):c.-8T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994510" "0" "30" "4" "96051106" "96051106" "subst" "1.21913E-5" "01804" "BMPR1B_000030" "g.96051106A>G" "" "" "" "BMPR1B(NM_001203.2):c.679A>G (p.(Lys227Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994511" "0" "50" "4" "96069934" "96069934" "subst" "0.00102371" "01804" "BMPR1B_000024" "g.96069934G>A" "" "" "" "BMPR1B(NM_001203.2):c.1112G>A (p.R371Q, p.(Arg371Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994512" "0" "50" "4" "96069996" "96069996" "subst" "0" "01804" "BMPR1B_000031" "g.96069996T>C" "" "" "" "BMPR1B(NM_001203.2):c.1174T>C (p.(Phe392Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034738" "0" "50" "4" "95972851" "95972851" "subst" "4.85964E-5" "01804" "BMPR1B_000020" "g.95972851A>G" "" "" "" "BMPR1B(NM_001256793.1):c.1A>G (p.M1?), BMPR1B(NM_001256793.2):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034739" "0" "50" "4" "96035971" "96035971" "subst" "0" "01804" "BMPR1B_000032" "g.96035971C>T" "" "" "" "BMPR1B(NM_001203.3):c.244C>T (p.(Arg82Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034740" "0" "50" "4" "96046145" "96046145" "subst" "1.22158E-5" "01804" "BMPR1B_000010" "g.96046145A>G" "" "" "" "BMPR1B(NM_001203.3):c.458A>G (p.(Gln153Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034741" "0" "70" "4" "96046214" "96046214" "subst" "1.63067E-5" "01804" "BMPR1B_000033" "g.96046214T>C" "" "" "" "BMPR1B(NM_001203.3):c.527T>C (p.(Leu176Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034742" "0" "50" "4" "96051172" "96051172" "subst" "7.31523E-5" "01804" "BMPR1B_000034" "g.96051172C>G" "" "" "" "BMPR1B(NM_001203.3):c.745C>G (p.(Gln249Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034743" "0" "50" "4" "96069915" "96069915" "subst" "0" "01804" "BMPR1B_000035" "g.96069915G>C" "" "" "" "BMPR1B(NM_001203.3):c.1093G>C (p.(Asp365His))" "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 BMPR1B ## Count = 142 "{{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}}" "0000020611" "00003436" "95" "157" "0" "157" "0" "c.157T>C" "r.(?)" "p.(Cys53Arg)" "5" "0000020612" "00003436" "95" "157" "0" "157" "0" "c.157T>C" "r.(?)" "p.(Cys53Arg)" "5" "0000020613" "00003436" "95" "657" "0" "657" "0" "c.657G>A" "r.(?)" "p.(Trp219*)" "9" "0000020614" "00003436" "95" "657" "0" "657" "0" "c.657G>A" "r.(?)" "p.(Trp219*)" "9" "0000020615" "00003436" "95" "657" "0" "657" "0" "c.657G>A" "r.(?)" "p.(Trp219*)" "9" "0000020616" "00003436" "95" "657" "0" "657" "0" "c.657G>A" "r.(?)" "p.(Trp219*)" "9" "0000053135" "00003436" "90" "975" "0" "975" "0" "c.975A>C" "r.(?)" "p.(Lys325Asn)" "10" "0000053136" "00023846" "90" "537" "-1" "537" "-1" "c.537-1g>a" "r.spl" "p.?" "" "0000053136" "00023847" "90" "447" "-1" "447" "-1" "c.447-1g>a" "r.spl" "p.?" "" "0000053136" "00023848" "90" "447" "-1" "447" "-1" "c.447-1g>a" "r.spl" "p.?" "" "0000053136" "00003436" "90" "447" "-1" "447" "-1" "c.447-1g>a" "r.spl" "p.?" "" "0000132234" "00023846" "50" "1114" "0" "1114" "0" "c.1114A>G" "r.1024a>g" "p.(Lys372Glu)" "" "0000132234" "00023847" "50" "1024" "0" "1024" "0" "c.1024A>G" "r.1024a>g" "p.(Lys342Glu)" "" "0000132234" "00023848" "50" "1024" "0" "1024" "0" "c.1024A>G" "r.1024a>g" "p.(Lys342Glu)" "" "0000132234" "00003436" "50" "1024" "0" "1024" "0" "c.1024A>G" "r.(1024a>g)" "p.(Lys342Glu)" "10" "0000173833" "00003436" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Cys)" "9" "0000223732" "00003436" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Cys)" "9" "0000223734" "00003436" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Cys)" "9" "0000223736" "00003436" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Cys)" "9" "0000223738" "00003436" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Cys)" "9" "0000223740" "00003436" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Cys)" "9" "0000223742" "00003436" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Cys)" "9" "0000263734" "00023846" "50" "1608" "0" "1608" "0" "c.*9G>C" "r.(=)" "p.(=)" "" "0000263734" "00023847" "50" "1518" "0" "1518" "0" "c.*9G>C" "r.(=)" "p.(=)" "" "0000263734" "00023848" "50" "1518" "0" "1518" "0" "c.*9G>C" "r.(=)" "p.(=)" "" "0000263734" "00003436" "50" "1518" "0" "1518" "0" "c.*9G>C" "r.(=)" "p.(=)" "" "0000263735" "00023846" "90" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Asp295Asn)" "" "0000263735" "00023847" "90" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Asp265Asn)" "" "0000263735" "00023848" "90" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Asp265Asn)" "" "0000263735" "00003436" "90" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Asp265Asn)" "" "0000344616" "00023846" "50" "548" "0" "548" "0" "c.548A>G" "r.(?)" "p.(Gln183Arg)" "" "0000344616" "00023847" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Gln153Arg)" "" "0000344616" "00023848" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Gln153Arg)" "" "0000344616" "00003436" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Gln153Arg)" "" "0000523575" "00023846" "30" "67" "0" "67" "0" "c.67A>G" "r.(?)" "p.(Thr23Ala)" "" "0000523575" "00023847" "30" "-17" "-52642" "-17" "-52642" "c.-17-52642A>G" "r.(=)" "p.(=)" "" "0000523575" "00023848" "30" "-39879" "0" "-39879" "0" "c.-39879A>G" "r.(?)" "p.(=)" "" "0000523575" "00003436" "30" "-17" "-52642" "-17" "-52642" "c.-17-52642A>G" "r.(=)" "p.(=)" "" "0000523576" "00023846" "50" "101" "0" "101" "0" "c.101G>A" "r.(?)" "p.(Arg34Gln)" "" "0000523576" "00023847" "50" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4Gln)" "" "0000523576" "00023848" "50" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4Gln)" "" "0000523576" "00003436" "50" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4Gln)" "" "0000523577" "00023846" "30" "337" "-4" "337" "-4" "c.337-4A>G" "r.spl?" "p.?" "" "0000523577" "00023847" "30" "247" "-4" "247" "-4" "c.247-4A>G" "r.spl?" "p.?" "" "0000523577" "00023848" "30" "247" "-4" "247" "-4" "c.247-4A>G" "r.spl?" "p.?" "" "0000523577" "00003436" "30" "247" "-4" "247" "-4" "c.247-4A>G" "r.spl?" "p.?" "" "0000609338" "00023846" "50" "362" "0" "362" "0" "c.362G>T" "r.(?)" "p.(Arg121Ile)" "" "0000609338" "00023847" "50" "272" "0" "272" "0" "c.272G>T" "r.(?)" "p.(Arg91Ile)" "" "0000609338" "00023848" "50" "272" "0" "272" "0" "c.272G>T" "r.(?)" "p.(Arg91Ile)" "" "0000609338" "00003436" "50" "272" "0" "272" "0" "c.272G>T" "r.(?)" "p.(Arg91Ile)" "" "0000609339" "00023846" "30" "1474" "-8" "1474" "-8" "c.1474-8T>C" "r.(=)" "p.(=)" "" "0000609339" "00023847" "30" "1384" "-8" "1384" "-8" "c.1384-8T>C" "r.(=)" "p.(=)" "" "0000609339" "00023848" "30" "1384" "-8" "1384" "-8" "c.1384-8T>C" "r.(=)" "p.(=)" "" "0000609339" "00003436" "30" "1384" "-8" "1384" "-8" "c.1384-8T>C" "r.(=)" "p.(=)" "" "0000621435" "00023846" "50" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Val170Ile)" "" "0000621435" "00023847" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Val140Ile)" "" "0000621435" "00023848" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Val140Ile)" "" "0000621435" "00003436" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Val140Ile)" "" "0000621436" "00023846" "30" "1155" "0" "1155" "0" "c.1155T>A" "r.(?)" "p.(Val385=)" "" "0000621436" "00023847" "30" "1065" "0" "1065" "0" "c.1065T>A" "r.(?)" "p.(Val355=)" "" "0000621436" "00023848" "30" "1065" "0" "1065" "0" "c.1065T>A" "r.(?)" "p.(Val355=)" "" "0000621436" "00003436" "30" "1065" "0" "1065" "0" "c.1065T>A" "r.(?)" "p.(Val355=)" "" "0000651534" "00023846" "30" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" "" "0000651534" "00023847" "30" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Arg31His)" "" "0000651534" "00023848" "30" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Arg31His)" "" "0000651534" "00003436" "30" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Arg31His)" "" "0000677341" "00023846" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000677341" "00023847" "50" "-17" "-52708" "-17" "-52708" "c.-17-52708A>G" "r.(=)" "p.(=)" "" "0000677341" "00023848" "50" "-39945" "0" "-39945" "0" "c.-39945A>G" "r.(?)" "p.(=)" "" "0000677341" "00003436" "50" "-17" "-52708" "-17" "-52708" "c.-17-52708A>G" "r.(=)" "p.(=)" "" "0000677342" "00023846" "30" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Leu174=)" "" "0000677342" "00023847" "30" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Leu144=)" "" "0000677342" "00023848" "30" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Leu144=)" "" "0000677342" "00003436" "30" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Leu144=)" "" "0000677343" "00023846" "50" "554" "0" "554" "0" "c.554C>G" "r.(?)" "p.(Thr185Ser)" "" "0000677343" "00023847" "50" "464" "0" "464" "0" "c.464C>G" "r.(?)" "p.(Thr155Ser)" "" "0000677343" "00023848" "50" "464" "0" "464" "0" "c.464C>G" "r.(?)" "p.(Thr155Ser)" "" "0000677343" "00003436" "50" "464" "0" "464" "0" "c.464C>G" "r.(?)" "p.(Thr155Ser)" "" "0000677344" "00023846" "50" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Arg254His)" "" "0000677344" "00023847" "50" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Arg224His)" "" "0000677344" "00023848" "50" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Arg224His)" "" "0000677344" "00003436" "50" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Arg224His)" "" "0000720047" "00023846" "50" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Arg401Gln)" "" "0000720047" "00023847" "50" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "" "0000720047" "00023848" "50" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "" "0000720047" "00003436" "50" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "" "0000886454" "00023846" "30" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Thr54Ile)" "" "0000886454" "00023847" "30" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Thr24Ile)" "" "0000886454" "00023848" "30" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Thr24Ile)" "" "0000886454" "00003436" "30" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Thr24Ile)" "" "0000886455" "00023846" "30" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Trp)" "" "0000886455" "00023847" "30" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" "" "0000886455" "00023848" "30" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" "" "0000886455" "00003436" "30" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" "" "0000976428" "00023846" "50" "816" "0" "816" "0" "c.816C>G" "r.(?)" "p.(Phe272Leu)" "" "0000976428" "00023847" "50" "726" "0" "726" "0" "c.726C>G" "r.(?)" "p.(Phe242Leu)" "" "0000976428" "00023848" "50" "726" "0" "726" "0" "c.726C>G" "r.(?)" "p.(Phe242Leu)" "" "0000976428" "00003436" "50" "726" "0" "726" "0" "c.726C>G" "r.(?)" "p.(Phe242Leu)" "" "0000976429" "00023846" "50" "997" "0" "997" "0" "c.997A>C" "r.(?)" "p.(Lys333Gln)" "" "0000976429" "00023847" "50" "907" "0" "907" "0" "c.907A>C" "r.(?)" "p.(Lys303Gln)" "" "0000976429" "00023848" "50" "907" "0" "907" "0" "c.907A>C" "r.(?)" "p.(Lys303Gln)" "" "0000976429" "00003436" "50" "907" "0" "907" "0" "c.907A>C" "r.(?)" "p.(Lys303Gln)" "" "0000994509" "00023846" "50" "83" "0" "83" "0" "c.83T>C" "r.(?)" "p.(Leu28Pro)" "" "0000994509" "00023847" "50" "-8" "0" "-8" "0" "c.-8T>C" "r.(?)" "p.(=)" "" "0000994509" "00023848" "50" "-8" "0" "-8" "0" "c.-8T>C" "r.(?)" "p.(=)" "" "0000994509" "00003436" "50" "-8" "0" "-8" "0" "c.-8T>C" "r.(?)" "p.(=)" "" "0000994510" "00023846" "30" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Lys257Glu)" "" "0000994510" "00023847" "30" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Lys227Glu)" "" "0000994510" "00023848" "30" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Lys227Glu)" "" "0000994510" "00003436" "30" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Lys227Glu)" "" "0000994511" "00023846" "50" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Arg401Gln)" "" "0000994511" "00023847" "50" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "" "0000994511" "00023848" "50" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "" "0000994511" "00003436" "50" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "" "0000994512" "00023846" "50" "1264" "0" "1264" "0" "c.1264T>C" "r.(?)" "p.(Phe422Leu)" "" "0000994512" "00023847" "50" "1174" "0" "1174" "0" "c.1174T>C" "r.(?)" "p.(Phe392Leu)" "" "0000994512" "00023848" "50" "1174" "0" "1174" "0" "c.1174T>C" "r.(?)" "p.(Phe392Leu)" "" "0000994512" "00003436" "50" "1174" "0" "1174" "0" "c.1174T>C" "r.(?)" "p.(Phe392Leu)" "" "0001034738" "00023846" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0001034738" "00023847" "50" "-17" "-52708" "-17" "-52708" "c.-17-52708A>G" "r.(=)" "p.(=)" "" "0001034738" "00023848" "50" "-39945" "0" "-39945" "0" "c.-39945A>G" "r.(?)" "p.(=)" "" "0001034738" "00003436" "50" "-17" "-52708" "-17" "-52708" "c.-17-52708A>G" "r.(=)" "p.(=)" "" "0001034739" "00023846" "50" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Arg112Trp)" "" "0001034739" "00023847" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" "0001034739" "00023848" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" "0001034739" "00003436" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" "0001034740" "00023846" "50" "548" "0" "548" "0" "c.548A>G" "r.(?)" "p.(Gln183Arg)" "" "0001034740" "00023847" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Gln153Arg)" "" "0001034740" "00023848" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Gln153Arg)" "" "0001034740" "00003436" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Gln153Arg)" "" "0001034741" "00023846" "70" "617" "0" "617" "0" "c.617T>C" "r.(?)" "p.(Leu206Pro)" "" "0001034741" "00023847" "70" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Leu176Pro)" "" "0001034741" "00023848" "70" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Leu176Pro)" "" "0001034741" "00003436" "70" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Leu176Pro)" "" "0001034742" "00023846" "50" "835" "0" "835" "0" "c.835C>G" "r.(?)" "p.(Gln279Glu)" "" "0001034742" "00023847" "50" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Gln249Glu)" "" "0001034742" "00023848" "50" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Gln249Glu)" "" "0001034742" "00003436" "50" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Gln249Glu)" "" "0001034743" "00023846" "50" "1183" "0" "1183" "0" "c.1183G>C" "r.(?)" "p.(Asp395His)" "" "0001034743" "00023847" "50" "1093" "0" "1093" "0" "c.1093G>C" "r.(?)" "p.(Asp365His)" "" "0001034743" "00023848" "50" "1093" "0" "1093" "0" "c.1093G>C" "r.(?)" "p.(Asp365His)" "" "0001034743" "00003436" "50" "1093" "0" "1093" "0" "c.1093G>C" "r.(?)" "p.(Asp365His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000002330" "0000020611" "0000002330" "0000020612" "0000002331" "0000020613" "0000002331" "0000020614" "0000002332" "0000020615" "0000002332" "0000020616" "0000029733" "0000053135" "0000034447" "0000053136" "0000081571" "0000132234" "0000108007" "0000173833" "0000134058" "0000223732" "0000134061" "0000223734" "0000134062" "0000223736" "0000134063" "0000223738" "0000134064" "0000223740" "0000134065" "0000223742" "0000294845" "0000651534"