### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GPR56)
# 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}}"
"GPR56" "G protein-coupled receptor 56" "16" "q13" "unknown" "NC_000016.9" "UD_132118345406" "" "https://www.LOVD.nl/ADGRG1" "" "1" "4512" "" "604110" "1" "1" "1" "1" "NOTE: gene name changed from GPR56 to ADGRG1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from GPR56 to ADGRG1" "-1" "" "-1" "00008" "2012-06-25 00:00:00" "00006" "2020-08-23 13:08:26" "00000" "2024-08-28 13:16:32"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000236" "GPR56" "transcript variant 1" "001" "NM_005682.5" "" "NP_005673.3" "" "" "" "-292" "3532" "2082" "57653910" "57698944" "00008" "2012-06-25 11:33:58" "" ""
## 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"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02612" "BFPP" "Polymicrogyria, bilateral frontoparietal" "AR" "606854" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04073" "BPPR" "polymicrogyria, bilateral perisylvian, autosomal recessive" "" "615752" "" "" "" "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 = 3
"{{geneid}}" "{{diseaseid}}"
"GPR56" "00139"
"GPR56" "02612"
"GPR56" "04073"
## 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}}"
"00269878" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00291503" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291504" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291505" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291506" "" "" "" "179" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291507" "" "" "" "70" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291508" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304524" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304525" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00307932" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "simplex case" "F" "" "" "" "0" "" "" "" "17DG0762"
"00387863" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, third cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8900239"
"00403854" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF011"
"00453025" "" "" "" "3" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "4-generation family, 3 affected (F, 2M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam2"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 13
"{{individualid}}" "{{diseaseid}}"
"00269878" "00198"
"00291503" "00198"
"00291504" "00198"
"00291505" "00198"
"00291506" "00198"
"00291507" "00198"
"00291508" "00198"
"00304524" "00198"
"00304525" "00198"
"00307932" "00139"
"00387863" "00139"
"00403854" "05611"
"00453025" "05611"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02612, 04073, 05611
## Count = 5
"{{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}}"
"0000207674" "00198" "00269878" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Seizures (HP:0001250); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" ""
"0000233355" "00139" "00307932" "00006" "Familial, autosomal recessive" "2y3m" "see paper; ..., Global developmental delay; Neonatal hypotonia, Feeding difficulties, Abnormality of the cerebral white matter" "" "" "" "" "" "" "" "" "" "intellectual diability" ""
"0000281431" "00139" "00387863" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000296534" "05611" "00403854" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
"0000341670" "05611" "00453025" "03566" "Familial, autosomal recessive" "" "severe intellectual disability, global motor delay, developmental delay, ataxic gait, absent or delayed language, hypotonia, aggressive behaviour" "" "" "" "" "" "" "" "" "BFPP" "neurodevelopmental disorder" ""
## 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}}"
"0000271031" "00269878" "1" "01807" "01807" "2019-12-10 12:31:22" "" "" "SEQ" "DNA" "" ""
"0000292671" "00291503" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292672" "00291504" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292673" "00291505" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292674" "00291506" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292675" "00291507" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292676" "00291508" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305653" "00304524" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305654" "00304525" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000309076" "00307932" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES"
"0000389094" "00387863" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000405092" "00403854" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000454636" "00453025" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000309076" "GPR56"
## 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 = 81
"{{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}}"
"0000253666" "0" "10" "16" "57689805" "57689805" "subst" "0.200793" "01943" "GPR56_000044" "g.57689805A>C" "" "" "" "GPR56(NM_005682.6):c.918A>C (p.Q306H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57655893A>C" "" "benign" ""
"0000255305" "0" "30" "16" "57695887" "57695887" "subst" "0.00136184" "01943" "GPR56_000037" "g.57695887A>G" "" "" "" "GPR56(NM_001145772.2):c.1933+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57661975A>G" "" "likely benign" ""
"0000256364" "0" "50" "16" "57685489" "57685489" "subst" "0" "01943" "GPR56_000005" "g.57685489A>G" "" "" "" "GPR56(NM_001145772.2):c.442A>G (p.N148D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57651577A>G" "" "VUS" ""
"0000258960" "0" "10" "16" "57691265" "57691265" "subst" "0.407947" "02325" "GPR56_000021" "g.57691265C>A" "" "" "" "ADGRG1(NM_001145774.3):c.1168-20C>A, GPR56(NM_005682.6):c.1168-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57657353C>A" "" "benign" ""
"0000258961" "0" "10" "16" "57695604" "57695604" "subst" "0.255224" "02325" "GPR56_000033" "g.57695604C>T" "" "" "" "ADGRG1(NM_001145774.3):c.1665-5C>T, GPR56(NM_005682.6):c.1683-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57661692C>T" "" "benign" ""
"0000258962" "0" "10" "16" "57689883" "57689883" "subst" "0.758884" "02325" "GPR56_000017" "g.57689883T>C" "" "" "" "ADGRG1(NM_001145774.3):c.996T>C (p.T332=), ADGRG1(NM_005682.6):c.996T>C (p.T332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57655971T>C" "" "benign" ""
"0000261994" "0" "30" "16" "57685179" "57685179" "subst" "0.000848676" "01943" "GPR56_000002" "g.57685179C>T" "" "" "" "ADGRG1(NM_001145772.2):c.132C>T (p.S44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57651267C>T" "" "likely benign" ""
"0000261995" "0" "30" "16" "57693376" "57693376" "subst" "0.00404862" "01943" "GPR56_000026" "g.57693376C>T" "" "" "" "ADGRG1(NM_005682.6):c.1356C>T (p.A452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57659464C>T" "" "likely benign" ""
"0000261996" "0" "30" "16" "57694717" "57694717" "subst" "0" "01943" "GPR56_000032" "g.57694717G>A" "" "" "" "ADGRG1(NM_001145772.2):c.1593G>A (p.V531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57660805G>A" "" "likely benign" ""
"0000261997" "0" "30" "16" "57685221" "57685221" "subst" "0.000584729" "01943" "GPR56_000003" "g.57685221C>T" "" "" "" "ADGRG1(NM_005682.6):c.174C>T (p.I58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57651309C>T" "" "likely benign" ""
"0000261998" "0" "30" "16" "57697416" "57697416" "subst" "0" "01943" "GPR56_000039" "g.57697416C>T" "" "" "" "ADGRG1(NM_005682.6):c.2004C>T (p.G668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57663504C>T" "" "likely benign" ""
"0000261999" "0" "10" "16" "57687131" "57687131" "subst" "0.00118638" "01943" "GPR56_000007" "g.57687131C>T" "" "" "" "ADGRG1(NM_001145772.2):c.504C>T (p.A168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57653219C>T" "" "benign" ""
"0000262000" "0" "30" "16" "57687239" "57687239" "subst" "0.000878661" "01943" "GPR56_000008" "g.57687239C>T" "" "" "" "ADGRG1(NM_001145772.2):c.612C>T (p.P204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57653327C>T" "" "likely benign" ""
"0000262001" "0" "30" "16" "57687907" "57687907" "subst" "8.12367E-6" "01943" "GPR56_000010" "g.57687907G>A" "" "" "" "ADGRG1(NM_001145772.2):c.630G>A (p.Q210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57653995G>A" "" "likely benign" ""
"0000262002" "0" "50" "16" "57687980" "57687980" "subst" "2.03141E-5" "01943" "GPR56_000012" "g.57687980G>A" "" "" "" "ADGRG1(NM_001145772.2):c.703G>A (p.A235T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57654068G>A" "" "VUS" ""
"0000262003" "0" "10" "16" "57689883" "57689883" "subst" "0.758884" "01943" "GPR56_000017" "g.57689883T>C" "" "" "" "ADGRG1(NM_001145774.3):c.996T>C (p.T332=), ADGRG1(NM_005682.6):c.996T>C (p.T332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57655971T>C" "" "benign" ""
"0000288667" "0" "10" "16" "57697513" "57697513" "subst" "0.00851748" "01943" "GPR56_000040" "g.57697513C>A" "" "" "" "GPR56(NM_005682.6):c.*19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57663601C>A" "" "benign" ""
"0000288668" "0" "30" "16" "57689912" "57689912" "subst" "0.00202628" "01943" "GPR56_000019" "g.57689912G>A" "" "" "" "GPR56(NM_005682.6):c.1017+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57656000G>A" "" "likely benign" ""
"0000288669" "0" "50" "16" "57690434" "57690434" "subst" "0" "01943" "GPR56_000020" "g.57690434C>G" "" "" "" "GPR56(NM_005682.6):c.1072C>G (p.P358A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57656522C>G" "" "VUS" ""
"0000288670" "0" "10" "16" "57691265" "57691265" "subst" "0.407947" "01943" "GPR56_000021" "g.57691265C>A" "" "" "" "ADGRG1(NM_001145774.3):c.1168-20C>A, GPR56(NM_005682.6):c.1168-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57657353C>A" "" "benign" ""
"0000288671" "0" "30" "16" "57691305" "57691305" "subst" "0.000223388" "01943" "GPR56_000022" "g.57691305C>T" "" "" "" "ADGRG1(NM_005682.6):c.1188C>T (p.D396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57657393C>T" "" "likely benign" ""
"0000288672" "0" "10" "16" "57691409" "57691409" "subst" "0.0239183" "01943" "GPR56_000023" "g.57691409G>A" "" "" "" "GPR56(NM_001145770.1):c.1286+6G>A (p.(=)), GPR56(NM_005682.6):c.1286+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57657497G>A" "" "benign" ""
"0000288673" "0" "30" "16" "57693319" "57693319" "subst" "0.00026817" "01943" "GPR56_000024" "g.57693319G>A" "" "" "" "ADGRG1(NM_005682.6):c.1299G>A (p.P433=), ADGRG1(NM_201525.4):c.1287-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57659407G>A" "" "likely benign" ""
"0000288674" "0" "50" "16" "57693335" "57693335" "subst" "8.22443E-6" "01943" "GPR56_000025" "g.57693335C>T" "" "" "" "GPR56(NM_005682.6):c.1315C>T (p.R439W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57659423C>T" "" "VUS" ""
"0000288675" "0" "10" "16" "57693498" "57693498" "subst" "0.0330609" "01943" "GPR56_000028" "g.57693498T>C" "" "" "" "GPR56(NM_005682.6):c.1478T>C (p.M493T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57659586T>C" "" "benign" ""
"0000288676" "0" "90" "16" "57693506" "57693506" "subst" "4.06319E-6" "01943" "GPR56_000029" "g.57693506G>A" "" "" "" "GPR56(NM_005682.6):c.1486G>A (p.E496K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57659594G>A" "" "pathogenic" ""
"0000288677" "0" "10" "16" "57693608" "57693608" "subst" "0.0351175" "01943" "GPR56_000031" "g.57693608G>C" "" "" "" "GPR56(NM_005682.6):c.1573+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57659696G>C" "" "benign" ""
"0000288678" "0" "10" "16" "57695604" "57695604" "subst" "0.255224" "01943" "GPR56_000033" "g.57695604C>T" "" "" "" "ADGRG1(NM_001145774.3):c.1665-5C>T, GPR56(NM_005682.6):c.1683-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57661692C>T" "" "benign" ""
"0000288679" "0" "90" "16" "57695619" "57695619" "subst" "4.1196E-6" "01943" "GPR56_000034" "g.57695619C>T" "" "" "" "GPR56(NM_005682.6):c.1693C>T (p.R565W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57661707C>T" "" "pathogenic" ""
"0000288680" "0" "90" "16" "57695724" "57695724" "subst" "0.000101534" "01943" "GPR56_000035" "g.57695724C>T" "" "" "" "GPR56(NM_005682.6):c.1798C>T (p.R600C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57661812C>T" "" "pathogenic" ""
"0000288681" "0" "10" "16" "57697345" "57697345" "subst" "0.001136" "01943" "GPR56_000038" "g.57697345G>A" "" "" "" "GPR56(NM_005682.6):c.1952-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57663433G>A" "" "benign" ""
"0000288682" "0" "30" "16" "57685261" "57685261" "subst" "0.000621274" "01943" "GPR56_000004" "g.57685261C>T" "" "" "" "GPR56(NM_001145772.2):c.214C>T (p.P72S), GPR56(NM_201525.2):c.214C>T (p.(Pro72Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57651349C>T" "" "likely benign" ""
"0000288683" "0" "30" "16" "57684225" "57684225" "subst" "0.00028832" "01943" "GPR56_000001" "g.57684225C>T" "" "" "" "GPR56(NM_005682.6):c.26C>T (p.T9M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57650313C>T" "" "likely benign" ""
"0000288684" "0" "10" "16" "57687317" "57687317" "dup" "0" "01943" "GPR56_000009" "g.57687317dup" "" "" "" "ADGRG1(NM_005682.6):c.620+70dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57653405dup" "" "benign" ""
"0000288685" "0" "50" "16" "57687918" "57687918" "subst" "0.000824432" "01943" "GPR56_000011" "g.57687918C>T" "" "" "" "GPR56(NM_005682.6):c.641C>T (p.S214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57654006C>T" "" "VUS" ""
"0000288686" "0" "90" "16" "57688016" "57688022" "del" "0" "01943" "GPR56_000013" "g.57688016_57688022del" "" "" "" "GPR56(NM_005682.6):c.739_745delCAGGACC (p.Q247Cfs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57654104_57654110del" "" "pathogenic" ""
"0000288687" "0" "50" "16" "57689385" "57689386" "delins" "0" "01943" "GPR56_000015" "g.57689385_57689386delinsGC" "" "" "" "GPR56(NM_005682.6):c.843_844delCGinsGC (p.S281_G282delinsRR)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57655473_57655474delinsGC" "" "VUS" ""
"0000288688" "0" "10" "16" "57689385" "57689385" "subst" "0.593376" "01943" "GPR56_000014" "g.57689385C>G" "" "" "" "GPR56(NM_005682.6):c.843C>G (p.S281R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57655473C>G" "" "benign" ""
"0000288689" "0" "30" "16" "57689386" "57689386" "subst" "0.00405206" "01943" "GPR56_000016" "g.57689386G>C" "" "" "" "GPR56(NM_001145770.1):c.844G>C (p.(Gly282Arg)), GPR56(NM_005682.6):c.844G>C (p.G282R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57655474G>C" "" "likely benign" ""
"0000324805" "0" "50" "16" "57685534" "57685534" "subst" "1.23093E-5" "01804" "GPR56_000006" "g.57685534A>C" "" "" "" "ADGRG1(NM_001145772.2):c.487A>C (p.S163R), GPR56(NM_001145770.1):c.487A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57651622A>C" "" "VUS" ""
"0000324806" "0" "50" "16" "57689386" "57689386" "subst" "0.00405206" "01804" "GPR56_000016" "g.57689386G>C" "" "" "" "GPR56(NM_001145770.1):c.844G>C (p.(Gly282Arg)), GPR56(NM_005682.6):c.844G>C (p.G282R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57655474G>C" "" "VUS" ""
"0000324807" "0" "30" "16" "57693432" "57693432" "subst" "0" "01804" "GPR56_000027" "g.57693432C>T" "" "" "" "GPR56(NM_001145770.1):c.1394C>T (p.(Ser465Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57659520C>T" "" "likely benign" ""
"0000324810" "0" "50" "16" "57702264" "57702264" "subst" "0" "01804" "GPR97_000001" "g.57702264C>T" "" "" "" "GPR97(NM_170776.4):c.5C>T (p.(Ala2Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57668352C>T" "" "VUS" ""
"0000343367" "0" "90" "16" "57685282" "57685282" "subst" "4.06072E-6" "02327" "GPR56_000041" "g.57685282C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57651370C>T" "" "pathogenic" ""
"0000347149" "0" "50" "16" "57691325" "57691325" "subst" "0" "02327" "GPR56_000042" "g.57691325T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57657413T>C" "" "VUS" ""
"0000558606" "0" "30" "16" "57685238" "57685238" "subst" "2.43637E-5" "01943" "GPR56_000045" "g.57685238C>T" "" "" "" "ADGRG1(NM_001145772.2):c.191C>T (p.A64V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57651326C>T" "" "likely benign" ""
"0000558607" "0" "30" "16" "57685388" "57685388" "subst" "1.21827E-5" "01943" "GPR56_000046" "g.57685388A>G" "" "" "" "ADGRG1(NM_001145772.2):c.341A>G (p.D114G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57651476A>G" "" "likely benign" ""
"0000558608" "0" "30" "16" "57685534" "57685534" "subst" "1.23093E-5" "01943" "GPR56_000006" "g.57685534A>C" "" "" "" "ADGRG1(NM_001145772.2):c.487A>C (p.S163R), GPR56(NM_001145770.1):c.487A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57651622A>C" "" "likely benign" ""
"0000558609" "0" "30" "16" "57687232" "57687232" "subst" "0" "01943" "GPR56_000047" "g.57687232C>A" "" "" "" "ADGRG1(NM_001145772.2):c.605C>A (p.A202D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57653320C>A" "" "likely benign" ""
"0000558612" "0" "30" "16" "57690177" "57690177" "subst" "8.12189E-6" "01804" "GPR56_000049" "g.57690177C>T" "" "" "" "GPR56(NM_001145770.1):c.1057C>T (p.(Pro353Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57656265C>T" "" "likely benign" ""
"0000558613" "0" "30" "16" "57691280" "57691280" "subst" "0" "01804" "GPR56_000050" "g.57691280G>T" "" "" "" "GPR56(NM_001145770.1):c.1168-5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57657368G>T" "" "likely benign" ""
"0000558614" "0" "30" "16" "57691409" "57691409" "subst" "0.0239183" "01804" "GPR56_000023" "g.57691409G>A" "" "" "" "GPR56(NM_001145770.1):c.1286+6G>A (p.(=)), GPR56(NM_005682.6):c.1286+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57657497G>A" "" "likely benign" ""
"0000558615" "0" "30" "16" "57695754" "57695754" "subst" "0.000393902" "01943" "GPR56_000051" "g.57695754C>T" "" "" "" "ADGRG1(NM_001145772.2):c.1810C>T (p.L604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57661842C>T" "" "likely benign" ""
"0000558616" "0" "30" "16" "57695762" "57695762" "subst" "0" "01943" "GPR56_000052" "g.57695762G>A" "" "" "" "ADGRG1(NM_005682.6):c.1836G>A (p.L612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57661850G>A" "" "likely benign" ""
"0000558617" "0" "30" "16" "57697413" "57697413" "subst" "0.00029018" "01943" "GPR56_000053" "g.57697413T>C" "" "" "" "ADGRG1(NM_001145772.2):c.1983T>C (p.G661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57663501T>C" "" "likely benign" ""
"0000616056" "0" "30" "16" "57693461" "57693461" "subst" "0" "01804" "GPR56_000055" "g.57693461T>C" "" "" "" "GPR56(NM_001145770.1):c.1423T>C (p.(Phe475Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57659549T>C" "" "likely benign" ""
"0000624878" "3" "70" "16" "57697382" "57697382" "subst" "0" "01807" "GPR56_000056" "g.57697382G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.57663470G>A" "" "likely pathogenic" ""
"0000649360" "1" "90" "16" "57685159" "57685159" "subst" "0" "03575" "GPR56_000057" "g.57685159C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908462}" "Germline" "" "rs121908462" "0" "" "" "g.57651247C>T" "" "pathogenic" ""
"0000649361" "1" "90" "16" "57685312" "57685312" "subst" "0" "03575" "GPR56_000058" "g.57685312C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783658}" "Germline" "" "rs587783658" "0" "" "" "g.57651400C>T" "" "pathogenic" ""
"0000649362" "1" "90" "16" "57688016" "57688022" "del" "0" "03575" "GPR56_000013" "g.57688016_57688022del" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs587776625}" "Germline" "" "rs587776625" "0" "" "" "g.57654104_57654110del" "" "pathogenic" ""
"0000649363" "1" "10" "16" "57691409" "57691409" "subst" "0.0239183" "03575" "GPR56_000023" "g.57691409G>A" "179/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "179 heterozygous; {DB:CLININrs74326170}" "Germline" "" "rs74326170" "0" "" "" "g.57657497G>A" "" "benign" ""
"0000649364" "1" "30" "16" "57693498" "57693498" "subst" "0.0330609" "03575" "GPR56_000028" "g.57693498T>C" "70/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "70 heterozygous; {DB:CLININrs17379472}" "Germline" "" "rs17379472" "0" "" "" "g.57659586T>C" "" "likely benign" ""
"0000649365" "1" "70" "16" "57695619" "57695619" "subst" "4.1196E-6" "03575" "GPR56_000034" "g.57695619C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908464}" "Germline" "" "rs121908464" "0" "" "" "g.57661707C>T" "" "likely pathogenic" ""
"0000669341" "3" "10" "16" "57691409" "57691409" "subst" "0.0239183" "03575" "GPR56_000023" "g.57691409G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs74326170}" "Germline" "" "rs74326170" "0" "" "" "g.57657497G>A" "" "benign" ""
"0000669342" "3" "30" "16" "57693498" "57693498" "subst" "0.0330609" "03575" "GPR56_000028" "g.57693498T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs17379472}" "Germline" "" "rs17379472" "0" "" "" "g.57659586T>C" "" "likely benign" ""
"0000680613" "0" "30" "16" "57685444" "57685444" "subst" "1.6248E-5" "01943" "GPR56_000060" "g.57685444C>T" "" "" "" "ADGRG1(NM_001145772.2):c.397C>T (p.P133S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000680614" "0" "50" "16" "57691278" "57691278" "subst" "0" "01804" "GPR56_000061" "g.57691278G>A" "" "" "" "GPR56(NM_001145770.1):c.1168-7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000680615" "0" "30" "16" "57693318" "57693318" "subst" "3.71394E-5" "01804" "GPR56_000062" "g.57693318C>T" "" "" "" "GPR56(NM_001145770.1):c.1287-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000683539" "3" "70" "16" "57689887" "57689887" "subst" "0" "00006" "GPR56_000063" "g.57689887C>T" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM2" "Germline" "" "" "0" "" "" "g.57655975C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000725874" "0" "90" "16" "57688039" "57688039" "del" "0" "01943" "GPR56_000064" "g.57688039del" "" "" "" "ADGRG1(NM_001145772.2):c.762delG (p.Q255Rfs*68)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000725875" "0" "30" "16" "57691387" "57691387" "subst" "0.000572798" "01943" "GPR56_000065" "g.57691387G>A" "" "" "" "ADGRG1(NM_001145772.2):c.1270G>A (p.A424T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807481" "0" "30" "16" "57684210" "57684210" "subst" "0" "01943" "GPR56_000066" "g.57684210A>G" "" "" "" "ADGRG1(NM_001145772.2):c.11A>G (p.Q4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807482" "0" "50" "16" "57695809" "57695811" "del" "0" "01943" "GPR56_000067" "g.57695809_57695811del" "" "" "" "ADGRG1(NM_001145772.2):c.1865_1867delTCT (p.F622del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000817887" "3" "90" "16" "57695794" "57695794" "subst" "0" "00006" "GPR56_000068" "g.57695794G>A" "" "{PMID:Hu 2019:29302074}" "" "NM_001145774:c.1850G>A" "" "Germline" "" "" "0" "" "" "g.57661882G>A" "" "pathogenic (recessive)" "ACMG"
"0000841153" "3" "90" "16" "57697382" "57697382" "subst" "0" "00006" "GPR56_000056" "g.57697382G>A" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.57663470G>A" "" "pathogenic (recessive)" ""
"0000854571" "0" "30" "16" "57695841" "57695841" "subst" "1.21903E-5" "01943" "GPR56_000036" "g.57695841G>A" "" "" "" "ADGRG1(NM_001145772.2):c.1897G>A (p.V633I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000914655" "0" "50" "16" "57689380" "57689380" "subst" "7.72301E-5" "02325" "GPR56_000069" "g.57689380C>T" "" "" "" "ADGRG1(NM_005682.7):c.838C>T (p.R280W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981963" "0" "30" "16" "57693319" "57693319" "subst" "0.00026817" "01804" "GPR56_000024" "g.57693319G>A" "" "" "" "ADGRG1(NM_005682.6):c.1299G>A (p.P433=), ADGRG1(NM_201525.4):c.1287-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000989525" "3" "90" "16" "57693446" "57693446" "subst" "4.09353E-5" "03566" "GPR56_000070" "g.57693446C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "1423C>T (Arg476*)" "" "Germline" "yes" "" "0" "" "" "g.57659534C>T" "" "pathogenic (recessive)" ""
"0001002442" "0" "30" "16" "57685261" "57685261" "subst" "0.000621274" "01804" "GPR56_000004" "g.57685261C>T" "" "" "" "GPR56(NM_001145772.2):c.214C>T (p.P72S), GPR56(NM_201525.2):c.214C>T (p.(Pro72Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002443" "0" "50" "16" "57685369" "57685369" "subst" "3.65476E-5" "01804" "GPR56_000071" "g.57685369C>T" "" "" "" "GPR56(NM_005682.5):c.322C>T (p.(Arg108Cys))" "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 GPR56
## Count = 81
"{{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}}"
"0000253666" "00000236" "10" "918" "0" "918" "0" "c.918A>C" "r.(?)" "p.(Gln306His)" ""
"0000255305" "00000236" "30" "1951" "10" "1951" "10" "c.1951+10A>G" "r.(=)" "p.(=)" ""
"0000256364" "00000236" "50" "442" "0" "442" "0" "c.442A>G" "r.(?)" "p.(Asn148Asp)" ""
"0000258960" "00000236" "10" "1168" "-20" "1168" "-20" "c.1168-20C>A" "r.(=)" "p.(=)" ""
"0000258961" "00000236" "10" "1683" "-5" "1683" "-5" "c.1683-5C>T" "r.spl?" "p.?" ""
"0000258962" "00000236" "10" "996" "0" "996" "0" "c.996T>C" "r.(?)" "p.(Thr332=)" ""
"0000261994" "00000236" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Ser44=)" ""
"0000261995" "00000236" "30" "1356" "0" "1356" "0" "c.1356C>T" "r.(?)" "p.(Ala452=)" ""
"0000261996" "00000236" "30" "1611" "0" "1611" "0" "c.1611G>A" "r.(?)" "p.(Val537=)" ""
"0000261997" "00000236" "30" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(Ile58=)" ""
"0000261998" "00000236" "30" "2004" "0" "2004" "0" "c.2004C>T" "r.(?)" "p.(Gly668=)" ""
"0000261999" "00000236" "10" "504" "0" "504" "0" "c.504C>T" "r.(?)" "p.(Ala168=)" ""
"0000262000" "00000236" "30" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(Pro204=)" ""
"0000262001" "00000236" "30" "630" "0" "630" "0" "c.630G>A" "r.(?)" "p.(Gln210=)" ""
"0000262002" "00000236" "50" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Ala235Thr)" ""
"0000262003" "00000236" "10" "996" "0" "996" "0" "c.996T>C" "r.(?)" "p.(Thr332=)" ""
"0000288667" "00000236" "10" "2101" "0" "2101" "0" "c.*19C>A" "r.(=)" "p.(=)" ""
"0000288668" "00000236" "30" "1017" "8" "1017" "8" "c.1017+8G>A" "r.(=)" "p.(=)" ""
"0000288669" "00000236" "50" "1072" "0" "1072" "0" "c.1072C>G" "r.(?)" "p.(Pro358Ala)" ""
"0000288670" "00000236" "10" "1168" "-20" "1168" "-20" "c.1168-20C>A" "r.(=)" "p.(=)" ""
"0000288671" "00000236" "30" "1188" "0" "1188" "0" "c.1188C>T" "r.(?)" "p.(Asp396=)" ""
"0000288672" "00000236" "10" "1286" "6" "1286" "6" "c.1286+6G>A" "r.(=)" "p.(=)" ""
"0000288673" "00000236" "30" "1299" "0" "1299" "0" "c.1299G>A" "r.(?)" "p.(Pro433=)" ""
"0000288674" "00000236" "50" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" ""
"0000288675" "00000236" "10" "1478" "0" "1478" "0" "c.1478T>C" "r.(?)" "p.(Met493Thr)" ""
"0000288676" "00000236" "90" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Glu496Lys)" ""
"0000288677" "00000236" "10" "1573" "15" "1573" "15" "c.1573+15G>C" "r.(=)" "p.(=)" ""
"0000288678" "00000236" "10" "1683" "-5" "1683" "-5" "c.1683-5C>T" "r.spl?" "p.?" ""
"0000288679" "00000236" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Trp)" ""
"0000288680" "00000236" "90" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(Arg600Cys)" ""
"0000288681" "00000236" "10" "1952" "-19" "1952" "-19" "c.1952-19G>A" "r.(=)" "p.(=)" ""
"0000288682" "00000236" "30" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Pro72Ser)" ""
"0000288683" "00000236" "30" "26" "0" "26" "0" "c.26C>T" "r.(?)" "p.(Thr9Met)" ""
"0000288684" "00000236" "10" "620" "70" "620" "70" "c.620+70dup" "r.(=)" "p.(=)" ""
"0000288685" "00000236" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Ser214Leu)" ""
"0000288686" "00000236" "90" "739" "0" "745" "0" "c.739_745del" "r.(?)" "p.(Gln247CysfsTer74)" ""
"0000288687" "00000236" "50" "843" "0" "844" "0" "c.843_844delinsGC" "r.(?)" "p.(Ser281_Gly282delinsArgArg)" ""
"0000288688" "00000236" "10" "843" "0" "843" "0" "c.843C>G" "r.(?)" "p.(Ser281Arg)" ""
"0000288689" "00000236" "30" "844" "0" "844" "0" "c.844G>C" "r.(?)" "p.(Gly282Arg)" ""
"0000324805" "00000236" "50" "487" "0" "487" "0" "c.487A>C" "r.(?)" "p.(Ser163Arg)" ""
"0000324806" "00000236" "50" "844" "0" "844" "0" "c.844G>C" "r.(?)" "p.(Gly282Arg)" ""
"0000324807" "00000236" "30" "1412" "0" "1412" "0" "c.1412C>T" "r.(?)" "p.(Ser471Phe)" ""
"0000324810" "00000236" "50" "6852" "0" "6852" "0" "c.*4770C>T" "r.(=)" "p.(=)" ""
"0000343367" "00000236" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" ""
"0000347149" "00000236" "50" "1208" "0" "1208" "0" "c.1208T>C" "r.(?)" "p.(Leu403Pro)" ""
"0000558606" "00000236" "30" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" ""
"0000558607" "00000236" "30" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(Asp114Gly)" ""
"0000558608" "00000236" "30" "487" "0" "487" "0" "c.487A>C" "r.(?)" "p.(Ser163Arg)" ""
"0000558609" "00000236" "30" "605" "0" "605" "0" "c.605C>A" "r.(?)" "p.(Ala202Asp)" ""
"0000558612" "00000236" "30" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Pro353Ser)" ""
"0000558613" "00000236" "30" "1168" "-5" "1168" "-5" "c.1168-5G>T" "r.spl?" "p.?" ""
"0000558614" "00000236" "30" "1286" "6" "1286" "6" "c.1286+6G>A" "r.(=)" "p.(=)" ""
"0000558615" "00000236" "30" "1828" "0" "1828" "0" "c.1828C>T" "r.(?)" "p.(Leu610=)" ""
"0000558616" "00000236" "30" "1836" "0" "1836" "0" "c.1836G>A" "r.(?)" "p.(Leu612=)" ""
"0000558617" "00000236" "30" "2001" "0" "2001" "0" "c.2001T>C" "r.(?)" "p.(Gly667=)" ""
"0000616056" "00000236" "30" "1441" "0" "1441" "0" "c.1441T>C" "r.(?)" "p.(Phe481Leu)" ""
"0000624878" "00000236" "70" "1970" "0" "1970" "0" "c.1970G>A" "r.(?)" "p.(Trp657Ter)" ""
"0000649360" "00000236" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Trp)" ""
"0000649361" "00000236" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(His89Tyr)" ""
"0000649362" "00000236" "90" "739" "0" "745" "0" "c.739_745del" "r.(?)" "p.(Gln247Cysfs*74)" ""
"0000649363" "00000236" "10" "1286" "6" "1286" "6" "c.1286+6G>A" "r.(=)" "p.(=)" ""
"0000649364" "00000236" "30" "1478" "0" "1478" "0" "c.1478T>C" "r.(?)" "p.(Met493Thr)" ""
"0000649365" "00000236" "70" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Trp)" ""
"0000669341" "00000236" "10" "1286" "6" "1286" "6" "c.1286+6G>A" "r.(=)" "p.(=)" ""
"0000669342" "00000236" "30" "1478" "0" "1478" "0" "c.1478T>C" "r.(?)" "p.(Met493Thr)" ""
"0000680613" "00000236" "30" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Pro133Ser)" ""
"0000680614" "00000236" "50" "1168" "-7" "1168" "-7" "c.1168-7G>A" "r.(=)" "p.(=)" ""
"0000680615" "00000236" "30" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Pro433Leu)" ""
"0000683539" "00000236" "70" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334*)" ""
"0000725874" "00000236" "90" "762" "0" "762" "0" "c.762del" "r.(?)" "p.(Gln255Argfs*68)" ""
"0000725875" "00000236" "30" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Ala424Thr)" ""
"0000807481" "00000236" "30" "11" "0" "11" "0" "c.11A>G" "r.(?)" "p.(Gln4Arg)" ""
"0000807482" "00000236" "50" "1883" "0" "1885" "0" "c.1883_1885del" "r.(?)" "p.(Phe628del)" ""
"0000817887" "00000236" "90" "1868" "0" "1868" "0" "c.1868G>A" "r.(?)" "p.(Trp623Ter)" ""
"0000841153" "00000236" "90" "1970" "0" "1970" "0" "c.1970G>A" "r.(?)" "p.(Trp657Ter)" ""
"0000854571" "00000236" "30" "1915" "0" "1915" "0" "c.1915G>A" "r.(?)" "p.(Val639Ile)" ""
"0000914655" "00000236" "50" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Arg280Trp)" ""
"0000981963" "00000236" "30" "1299" "0" "1299" "0" "c.1299G>A" "r.(?)" "p.(Pro433=)" ""
"0000989525" "00000236" "90" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476Ter)" ""
"0001002442" "00000236" "30" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Pro72Ser)" ""
"0001002443" "00000236" "50" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Cys)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 13
"{{screeningid}}" "{{variantid}}"
"0000271031" "0000624878"
"0000292671" "0000649360"
"0000292672" "0000649361"
"0000292673" "0000649362"
"0000292674" "0000649363"
"0000292675" "0000649364"
"0000292676" "0000649365"
"0000305653" "0000669341"
"0000305654" "0000669342"
"0000309076" "0000683539"
"0000389094" "0000817887"
"0000405092" "0000841153"
"0000454636" "0000989525"