### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PCDHGB4) # 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}}" "PCDHGB4" "protocadherin gamma subfamily B, 4" "5" "q31" "unknown" "NC_000005.9" "UD_136017916454" "" "https://www.LOVD.nl/PCDHGB4" "" "1" "8711" "8641" "603058" "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/PCDHGB4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-21 09:48:21" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00015798" "PCDHGB4" "transcript variant 1" "001" "NM_003736.2" "" "NP_003727.1" "" "" "" "1" "4578" "2772" "140767452" "140892546" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02770" "RPIAD" "ribose-5-phosphate isomerase deficiency (RPIAD)" "AR" "608611" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-08-25 17:21:16" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050182" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00164983" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00164997" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00226142" "" "" "" "1" "" "03219" "{PMID:Shukla 2019:31247379}, {DOI:Shukla 2019:10.1016/j.ejmg.2019.103708}" "3-generation family, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "FamPatIII1" "00265203" "" "" "" "1" "" "00006" "{PMID:Kiselev 2019:31297131}" "" "F" "" "Sweden" "" "0" "" "" "" "Pat" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00050182" "00198" "00050575" "00198" "00164983" "00091" "00164997" "00091" "00226142" "02770" "00265203" "05121" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00198, 02770, 05121 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000036794" "00198" "00050182" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000203031" "05121" "00265203" "00006" "Unknown" "53y" "see paper; ..., cardiomyopathy, limb-girdle type muscular dystrophy" "44y" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000233444" "02770" "00226142" "03219" "Familial, autosomal recessive" "" "see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; no nystagmus; ataxia; spasticity; exaggerated deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; retinitis pigmentosa; cerebral white matter abnormalities; no hearing loss; EEG slow right frontal discharge with epileptiform activity" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050127" "00050182" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000165851" "00164983" "1" "02509" "02509" "2018-06-20 13:10:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000165867" "00164997" "1" "02509" "02509" "2018-06-20 15:13:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000227218" "00226142" "1" "03219" "03219" "2019-02-28 07:37:43" "" "" "-" "DNA" "" "" "0000266323" "00265203" "1" "00006" "00006" "2019-09-14 13:39:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000050127" "PCDHGA10" "0000266323" "MYOF" ## 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}}" "0000079079" "3" "90" "5" "140794930" "140794930" "subst" "0.00345575" "00006" "PCDHGA1_000001" "g.140794930C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.141415363C>T" "" "pathogenic" "" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000296796" "0" "10" "5" "140720516" "140720516" "subst" "0.474722" "02325" "PCDHGA1_000003" "g.140720516C>G" "" "" "" "PCDHGA1(NM_018912.3):c.2421+7844C>G, PCDHGA2(NM_018915.4):c.1978C>G (p.L660V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000305148" "0" "30" "5" "140856424" "140856424" "subst" "4.07834E-6" "01943" "PCDHGA1_000040" "g.140856424C>G" "" "" "" "PCDHGC3(NM_002588.4):c.741C>G (p.S247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000330606" "0" "50" "5" "140720358" "140720358" "subst" "0.00729342" "01804" "PCDHGA1_000002" "g.140720358A>G" "" "" "" "PCDHGA2(NM_018915.3):c.1820A>G (p.(His607Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330607" "0" "50" "5" "140724723" "140724723" "subst" "0" "01804" "PCDHGA1_000004" "g.140724723G>T" "" "" "" "PCDHGA3(NM_018916.3):c.1123G>T (p.(Asp375Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330608" "0" "50" "5" "140725322" "140725322" "subst" "8.12282E-6" "01804" "PCDHGA1_000005" "g.140725322C>T" "" "" "" "PCDHGA1(NM_018912.2):c.2421+12650C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330611" "0" "50" "5" "140741548" "140741548" "subst" "0.000224711" "01804" "PCDHGA1_000008" "g.140741548C>A" "" "" "" "PCDHGB2(NM_018923.2):c.1846C>A (p.(Leu616Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330612" "0" "50" "5" "140750024" "140750024" "subst" "0" "01804" "PCDHGA1_000009" "g.140750024G>T" "" "" "" "PCDHGA1(NM_018912.2):c.2421+37352G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330614" "0" "50" "5" "140751866" "140751866" "subst" "0.0023293" "01804" "PCDHGA1_000011" "g.140751866G>T" "" "" "" "PCDHGA1(NM_018912.2):c.2421+39194G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330615" "0" "50" "5" "140752393" "140752393" "subst" "0.000504631" "01804" "PCDHGA1_000012" "g.140752393C>T" "" "" "" "PCDHGB3(NM_032097.1):c.2432C>T (p.(Pro811Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330616" "0" "50" "5" "140762533" "140762533" "subst" "0.00136313" "01804" "PCDHGA1_000013" "g.140762533C>A" "" "" "" "PCDHGA7(NM_018920.3):c.67C>A (p.(Pro23Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330617" "0" "50" "5" "140762659" "140762659" "subst" "0.000451128" "01804" "PCDHGA1_000014" "g.140762659C>T" "" "" "" "PCDHGA7(NM_018920.3):c.193C>T (p.(Arg65Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330619" "0" "50" "5" "140763469" "140763469" "subst" "6.49836E-5" "01804" "PCDHGA1_000015" "g.140763469A>C" "" "" "" "PCDHGA7(NM_018920.3):c.1003A>C (p.(Ile335Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330620" "0" "50" "5" "140768227" "140768227" "subst" "1.21837E-5" "01804" "PCDHGA1_000016" "g.140768227C>A" "" "" "" "PCDHGB4(NM_003736.2):c.776C>A (p.(Thr259Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330621" "0" "50" "5" "140768785" "140768785" "subst" "0" "01804" "PCDHGA1_000017" "g.140768785A>C" "" "" "" "PCDHGB4(NM_003736.2):c.1334A>C (p.(Asp445Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330622" "0" "50" "5" "140768982" "140768982" "subst" "8.14392E-6" "01804" "PCDHGA1_000018" "g.140768982G>A" "" "" "" "PCDHGB4(NM_003736.2):c.1531G>A (p.(Val511Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330626" "0" "50" "5" "140772659" "140772659" "subst" "0" "01804" "PCDHGA1_000022" "g.140772659G>C" "" "" "" "PCDHGA1(NM_018912.2):c.2421+59987G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330627" "0" "50" "5" "140773812" "140773812" "subst" "0.00214074" "01804" "PCDHGA1_000023" "g.140773812G>A" "" "" "" "PCDHGA8(NM_014004.2):c.1432G>A (p.(Asp478Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330628" "0" "50" "5" "140778094" "140778094" "subst" "0.00268843" "01804" "PCDHGA1_000024" "g.140778094A>C" "" "" "" "PCDHGB5(NM_018925.2):c.400A>C (p.(Thr134Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330629" "0" "50" "5" "140778962" "140778962" "subst" "0.00652721" "01804" "PCDHGA1_000025" "g.140778962G>A" "" "" "" "PCDHGB5(NM_018925.2):c.1268G>A (p.(Arg423Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330630" "0" "50" "5" "140787962" "140787962" "subst" "0.0124231" "01804" "PCDHGA1_000026" "g.140787962A>G" "" "" "" "PCDHGB6(NM_018926.2):c.193A>G (p.(Lys65Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330631" "0" "50" "5" "140788804" "140788804" "subst" "8.12203E-5" "01804" "PCDHGA1_000027" "g.140788804A>G" "" "" "" "PCDHGA1(NM_018912.2):c.2421+76132A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330632" "0" "50" "5" "140789185" "140789185" "subst" "2.43756E-5" "01804" "PCDHGA1_000028" "g.140789185G>T" "" "" "" "PCDHGA1(NM_018912.2):c.2421+76513G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330633" "0" "50" "5" "140789686" "140789686" "subst" "4.11858E-6" "01804" "PCDHGA1_000029" "g.140789686C>T" "" "" "" "PCDHGA1(NM_018912.2):c.2421+77014C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330634" "0" "50" "5" "140794752" "140794752" "subst" "2.03522E-5" "01804" "PCDHGA1_000030" "g.140794752C>G" "" "" "" "PCDHGA1(NM_018912.2):c.2422-79622C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330636" "0" "50" "5" "140798879" "140798879" "subst" "0.00136483" "01804" "PCDHGA1_000032" "g.140798879G>C" "" "" "" "PCDHGA1(NM_018912.2):c.2422-75495G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330637" "0" "50" "5" "140798959" "140798959" "subst" "0" "01804" "PCDHGA1_000033" "g.140798959C>A" "" "" "" "PCDHGA1(NM_018912.2):c.2422-75415C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330638" "0" "50" "5" "140799269" "140799269" "subst" "0.00269862" "01804" "PCDHGA1_000034" "g.140799269G>A" "" "" "" "PCDHGB7(NM_018927.3):c.1843G>A (p.(Gly615Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330641" "0" "50" "5" "140802002" "140802002" "subst" "0.00142293" "01804" "PCDHGA1_000037" "g.140802002A>G" "" "" "" "PCDHGA11(NM_018914.2):c.1208A>G (p.(Tyr403Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330643" "0" "50" "5" "140810536" "140810536" "subst" "0.000322352" "01804" "PCDHGA1_000039" "g.140810536T>C" "" "" "" "PCDHGA1(NM_018912.2):c.2422-63838T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330644" "0" "50" "5" "140866992" "140866992" "subst" "2.43683E-5" "01804" "PCDHGA1_000041" "g.140866992G>A" "" "" "" "PCDHGA1(NM_018912.2):c.2422-7382G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330645" "0" "50" "5" "140870306" "140870306" "subst" "0" "01804" "PCDHGA1_000042" "g.140870306G>A" "" "" "" "PCDHGA1(NM_018912.2):c.2422-4068G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330646" "0" "50" "5" "140896509" "140896509" "subst" "0" "01804" "DIAPH1_000005" "g.140896509A>G" "" "" "" "DIAPH1(NM_001079812.2):c.3701T>C (p.(Met1234Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000347393" "0" "30" "5" "140896444" "140896444" "subst" "0" "02327" "DIAPH1_000020" "g.140896444T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000369608" "0" "90" "5" "140767492" "140767497" "del" "0.0608808" "02509" "PCDHGB4_000001" "g.140767492_140767497del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.141387928_141387933del" "" "pathogenic" "" "0000369635" "0" "70" "5" "140767495" "140767500" "del" "0" "02509" "PCDHGB4_000001" "g.140767495_140767500del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.141387928_141387933del" "" "likely pathogenic" "" "0000524536" "0" "50" "5" "140710540" "140710540" "subst" "1.21824E-5" "01943" "PCDHGA1_000044" "g.140710540G>T" "" "" "" "PCDHGA1(NM_018912.2):c.289G>T (p.A97S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000524538" "0" "30" "5" "140711970" "140711970" "subst" "8.53034E-5" "01943" "PCDHGA1_000046" "g.140711970C>T" "" "" "" "PCDHGA1(NM_018912.2):c.1719C>T (p.T573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524544" "0" "30" "5" "140755334" "140755334" "subst" "0.00038986" "01943" "PCDHGA1_000052" "g.140755334A>T" "" "" "" "PCDHGA6(NM_018919.2):c.1684A>T (p.I562F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524546" "0" "30" "5" "140769008" "140769031" "del" "0" "01804" "PCDHGA1_000054" "g.140769008_140769031del" "" "" "" "PCDHGB4(NM_003736.2):c.1545_1568del (p.(Ala517_Arg524del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524549" "0" "30" "5" "140778580" "140778580" "subst" "0.0116937" "01804" "PCDHGA1_000057" "g.140778580G>A" "" "" "" "PCDHGB5(NM_018925.2):c.886G>A (p.(Glu296Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524552" "0" "30" "5" "140779777" "140779777" "subst" "0.000836541" "01804" "PCDHGA1_000060" "g.140779777A>C" "" "" "" "PCDHGB5(NM_018925.2):c.2083A>C (p.(Ile695Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524553" "0" "30" "5" "140782951" "140782951" "subst" "0.000276162" "01804" "PCDHGA1_000061" "g.140782951A>C" "" "" "" "PCDHGA9(NM_018921.2):c.432A>C (p.(Glu144Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524555" "0" "30" "5" "140788731" "140788731" "subst" "0.00334246" "01804" "PCDHGA1_000063" "g.140788731C>T" "" "" "" "PCDHGB6(NM_018926.2):c.962C>T (p.(Ala321Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524556" "0" "50" "5" "140792965" "140792965" "subst" "4.06177E-6" "01804" "PCDHGA1_000064" "g.140792965A>G" "" "" "" "PCDHGA10(NM_018913.2):c.223A>G (p.(Arg75Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000524561" "0" "50" "5" "140802466" "140802468" "del" "0" "01804" "PCDHGA1_000069" "g.140802466_140802468del" "" "" "" "PCDHGA11(NM_018914.2):c.1670_1672del (p.(Asp558del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000524562" "0" "30" "5" "140802855" "140802857" "del" "0" "01804" "PCDHGA1_000070" "g.140802855_140802857del" "" "" "" "PCDHGA11(NM_018914.2):c.2060_2062del (p.(Ser688del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524563" "0" "30" "5" "140810421" "140810421" "subst" "0" "01943" "PCDHGA1_000071" "g.140810421G>A" "" "" "" "PCDHGA12(NM_003735.3):c.95G>A (p.R32H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524564" "0" "50" "5" "140890702" "140890702" "subst" "0.000365215" "01804" "DIAPH1_000030" "g.140890702G>A" "" "" "" "PCDHGA1(NM_018912.2):c.2758G>A (p.(Gly920Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000596969" "0" "50" "5" "140885037" "140885037" "subst" "0" "00006" "PCDHGA1_000072" "g.140885037C>T" "" "{PMID:Kiselev 2019:31297131}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000609535" "0" "50" "5" "140732226" "140732226" "subst" "0.000141793" "01943" "PCDHGA1_000073" "g.140732226T>C" "" "" "" "PCDHGB1(NM_018922.2):c.2399T>C (p.L800S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000609536" "0" "50" "5" "140784999" "140785003" "dup" "0" "01943" "PCDHGA1_000074" "g.140784999_140785003dup" "" "" "" "PCDHGA9(NM_032089.1):c.2480_2484dupGTTTT (p.*829Vfs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000609537" "0" "50" "5" "140884973" "140884973" "subst" "1.23069E-5" "01943" "PCDHGA1_000075" "g.140884973G>A" "" "" "" "PCDHGB1(NM_018922.2):c.2482G>A (p.D828N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683657" "3" "30" "5" "140792774" "140792774" "subst" "0.000415936" "00006" "PCDHGA1_000077" "g.140792774C>G" "" "{PMID:Shukla 2019:31247379}, {DOI:Shukla 2019:10.1016/j.ejmg.2019.103708}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000720225" "0" "30" "5" "140741031" "140741031" "subst" "4.06088E-6" "01943" "PCDHGA1_000078" "g.140741031C>T" "" "" "" "PCDHGB2(NM_018923.2):c.1329C>T (p.S443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720226" "0" "30" "5" "140783164" "140783164" "subst" "2.44159E-5" "01943" "PCDHGA1_000079" "g.140783164G>T" "" "" "" "PCDHGA9(NM_018921.2):c.645G>T (p.S215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801927" "0" "50" "5" "140767629" "140767629" "subst" "0" "01943" "PCDHGA1_000080" "g.140767629G>C" "" "" "" "PCDHGB4(NM_003736.2):c.178G>C (p.E60Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801928" "0" "30" "5" "140769731" "140769731" "subst" "4.87333E-5" "01943" "PCDHGA1_000081" "g.140769731G>A" "" "" "" "PCDHGB4(NM_003736.2):c.2280G>A (p.T760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850805" "0" "30" "5" "140753671" "140753671" "subst" "0.000158279" "01943" "PCDHGA1_000083" "g.140753671T>G" "" "" "" "PCDHGA6(NM_018919.2):c.21T>G (p.H7Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850806" "0" "50" "5" "140867006" "140867006" "subst" "0.000138087" "01943" "PCDHGA1_000085" "g.140867006T>A" "" "" "" "PCDHGC4(NM_018928.2):c.2266T>A (p.S756T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859785" "0" "50" "5" "140741215" "140741215" "subst" "0" "01943" "PCDHGA1_000082" "g.140741215G>A" "" "" "" "PCDHGB2(NM_018923.2):c.1513G>A (p.V505M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859786" "0" "30" "5" "140783500" "140783500" "subst" "4.06167E-6" "01943" "PCDHGA1_000084" "g.140783500G>T" "" "" "" "PCDHGA9(NM_018921.2):c.981G>T (p.L327F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886648" "0" "30" "5" "140896472" "140896472" "subst" "0.00220118" "02326" "DIAPH1_000106" "g.140896472C>T" "" "" "" "DIAPH1(NM_005219.5):c.3765G>A (p.E1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976603" "0" "50" "5" "140725143" "140725143" "subst" "0.000105579" "01804" "PCDHGA1_000087" "g.140725143T>A" "" "" "" "PCDHGA3(NM_018916.4):c.1543T>A (p.(Tyr515Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976604" "0" "30" "5" "140725648" "140725648" "subst" "0.00262369" "01804" "PCDHGA1_000088" "g.140725648A>T" "" "" "" "PCDHGA3(NM_018916.4):c.2048A>T (p.(Lys683Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976605" "0" "50" "5" "140890595" "140890595" "subst" "4.1024E-6" "01804" "DIAPH1_000121" "g.140890595T>G" "" "" "" "PCDHGC4(NM_018928.3):c.2672T>G (p.(Leu891Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994711" "0" "50" "5" "140772582" "140772582" "subst" "1.62551E-5" "01804" "PCDHGA1_000089" "g.140772582T>A" "" "" "" "PCDHGA8(NM_032088.1):c.202T>A (p.(Ser68Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994712" "0" "30" "5" "140773791" "140773791" "subst" "0.000284336" "01804" "PCDHGA1_000090" "g.140773791A>G" "" "" "" "PCDHGA8(NM_032088.1):c.1411A>G (p.(Ile471Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994713" "0" "50" "5" "140774072" "140774072" "subst" "4.06108E-6" "01804" "PCDHGA1_000091" "g.140774072C>A" "" "" "" "PCDHGA8(NM_032088.1):c.1692C>A (p.(Tyr564*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994714" "0" "30" "5" "140812178" "140812178" "subst" "0.00050378" "01804" "PCDHGA1_000092" "g.140812178T>G" "" "" "" "PCDHGA12(NM_003735.2):c.1852T>G (p.(Ser618Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034945" "0" "50" "5" "140730262" "140730262" "del" "0" "01804" "PCDHGA1_000093" "g.140730262del" "" "" "" "PCDHGB1(NM_018922.3):c.435del (p.(Val147*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034946" "0" "30" "5" "140731049" "140731059" "delins" "0" "01804" "PCDHGA1_000094" "g.140731049_140731059delinsAGGGAGCAGAA" "" "" "" "PCDHGB1(NM_018922.3):c.1222_1232delinsAGGGAGCAGAA (p.(Thr411Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034947" "0" "30" "5" "140731059" "140731059" "subst" "0.00663562" "01804" "PCDHGA1_000095" "g.140731059C>A" "" "" "" "PCDHGB1(NM_018922.3):c.1232C>A (p.(Thr411Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034948" "0" "50" "5" "140865466" "140865466" "subst" "8.12757E-6" "01804" "PCDHGA1_000096" "g.140865466C>G" "" "" "" "PCDHGC4(NM_018928.3):c.726C>G (p.(Phe242Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034949" "0" "50" "5" "140866037" "140866037" "subst" "0" "01804" "PCDHGA1_000097" "g.140866037C>T" "" "" "" "PCDHGC4(NM_018928.3):c.1297C>T (p.(Pro433Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034950" "0" "30" "5" "140874422" "140874422" "subst" "0.000812361" "01804" "PCDHGA1_000098" "g.140874422G>A" "" "" "" "PCDHGC4(NM_018928.3):c.2491G>A (p.(Gly831Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052129" "0" "50" "5" "140711206" "140711206" "subst" "6.09791E-5" "01804" "PCDHGA1_000099" "g.140711206G>C" "" "" "" "PCDHGA1(NM_018912.3):c.955G>C (p.(Val319Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052130" "0" "50" "5" "140711225" "140711225" "subst" "1.62686E-5" "01804" "PCDHGA1_000100" "g.140711225C>T" "" "" "" "PCDHGA1(NM_018912.3):c.974C>T (p.(Ala325Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052131" "0" "70" "5" "140866769" "140866769" "subst" "4.06088E-6" "01804" "PCDHGA1_000101" "g.140866769C>T" "" "" "" "PCDHGC4(NM_018928.3):c.2029C>T (p.(Arg677*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001052132" "0" "50" "5" "140890603" "140890603" "subst" "4.10256E-5" "01804" "DIAPH1_000131" "g.140890603G>A" "" "" "" "PCDHGC4(NM_018928.3):c.2680G>A (p.(Val894Met))" "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 PCDHGB4 ## 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}}" "0000079079" "00015798" "00" "2397" "25082" "2397" "25082" "c.2397+25082C>T" "r.(=)" "p.(=)" "" "0000079500" "00015798" "00" "-8388608" "0" "4829317" "0" "c.-16938928_*4826545dup" "" "" "" "0000296796" "00015798" "10" "-46936" "0" "-46936" "0" "c.-46936C>G" "r.(?)" "p.(=)" "" "0000305148" "00015798" "30" "2398" "-17950" "2398" "-17950" "c.2398-17950C>G" "r.(=)" "p.(=)" "" "0000330606" "00015798" "50" "-47094" "0" "-47094" "0" "c.-47094A>G" "r.(?)" "p.(=)" "" "0000330607" "00015798" "50" "-42729" "0" "-42729" "0" "c.-42729G>T" "r.(?)" "p.(=)" "" "0000330608" "00015798" "50" "-42130" "0" "-42130" "0" "c.-42130C>T" "r.(?)" "p.(=)" "" "0000330611" "00015798" "50" "-25904" "0" "-25904" "0" "c.-25904C>A" "r.(?)" "p.(=)" "" "0000330612" "00015798" "50" "-17428" "0" "-17428" "0" "c.-17428G>T" "r.(?)" "p.(=)" "" "0000330614" "00015798" "50" "-15586" "0" "-15586" "0" "c.-15586G>T" "r.(?)" "p.(=)" "" "0000330615" "00015798" "50" "-15059" "0" "-15059" "0" "c.-15059C>T" "r.(?)" "p.(=)" "" "0000330616" "00015798" "50" "-4919" "0" "-4919" "0" "c.-4919C>A" "r.(?)" "p.(=)" "" "0000330617" "00015798" "50" "-4793" "0" "-4793" "0" "c.-4793C>T" "r.(?)" "p.(=)" "" "0000330619" "00015798" "50" "-3983" "0" "-3983" "0" "c.-3983A>C" "r.(?)" "p.(=)" "" "0000330620" "00015798" "50" "776" "0" "776" "0" "c.776C>A" "r.(?)" "p.(Thr259Asn)" "" "0000330621" "00015798" "50" "1334" "0" "1334" "0" "c.1334A>C" "r.(?)" "p.(Asp445Ala)" "" "0000330622" "00015798" "50" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Val511Met)" "" "0000330626" "00015798" "50" "2397" "2811" "2397" "2811" "c.2397+2811G>C" "r.(=)" "p.(=)" "" "0000330627" "00015798" "50" "2397" "3964" "2397" "3964" "c.2397+3964G>A" "r.(=)" "p.(=)" "" "0000330628" "00015798" "50" "2397" "8246" "2397" "8246" "c.2397+8246A>C" "r.(=)" "p.(=)" "" "0000330629" "00015798" "50" "2397" "9114" "2397" "9114" "c.2397+9114G>A" "r.(=)" "p.(=)" "" "0000330630" "00015798" "50" "2397" "18114" "2397" "18114" "c.2397+18114A>G" "r.(=)" "p.(=)" "" "0000330631" "00015798" "50" "2397" "18956" "2397" "18956" "c.2397+18956A>G" "r.(=)" "p.(=)" "" "0000330632" "00015798" "50" "2397" "19337" "2397" "19337" "c.2397+19337G>T" "r.(=)" "p.(=)" "" "0000330633" "00015798" "50" "2397" "19838" "2397" "19838" "c.2397+19838C>T" "r.(=)" "p.(=)" "" "0000330634" "00015798" "50" "2397" "24904" "2397" "24904" "c.2397+24904C>G" "r.(=)" "p.(=)" "" "0000330636" "00015798" "50" "2397" "29031" "2397" "29031" "c.2397+29031G>C" "r.(=)" "p.(=)" "" "0000330637" "00015798" "50" "2397" "29111" "2397" "29111" "c.2397+29111C>A" "r.(=)" "p.(=)" "" "0000330638" "00015798" "50" "2397" "29421" "2397" "29421" "c.2397+29421G>A" "r.(=)" "p.(=)" "" "0000330641" "00015798" "50" "2397" "32154" "2397" "32154" "c.2397+32154A>G" "r.(=)" "p.(=)" "" "0000330643" "00015798" "50" "2397" "40688" "2397" "40688" "c.2397+40688T>C" "r.(=)" "p.(=)" "" "0000330644" "00015798" "50" "2398" "-7382" "2398" "-7382" "c.2398-7382G>A" "r.(=)" "p.(=)" "" "0000330645" "00015798" "50" "2398" "-4068" "2398" "-4068" "c.2398-4068G>A" "r.(=)" "p.(=)" "" "0000330646" "00015798" "50" "8541" "0" "8541" "0" "c.*5769A>G" "r.(=)" "p.(=)" "" "0000347393" "00015798" "30" "8476" "0" "8476" "0" "c.*5704T>A" "r.(=)" "p.(=)" "" "0000369608" "00015798" "90" "44" "0" "49" "0" "c.44_49del" "r.(44_49del)" "p.(Pro15_Val16del)" "1" "0000369635" "00015798" "70" "44" "0" "49" "0" "c.44_49del" "r.(44_49del)" "p.(Pro15_Val16del)" "1" "0000524536" "00015798" "50" "-56912" "0" "-56912" "0" "c.-56912G>T" "r.(?)" "p.(=)" "" "0000524538" "00015798" "30" "-55482" "0" "-55482" "0" "c.-55482C>T" "r.(?)" "p.(=)" "" "0000524544" "00015798" "30" "-12118" "0" "-12118" "0" "c.-12118A>T" "r.(?)" "p.(=)" "" "0000524546" "00015798" "30" "1557" "0" "1580" "0" "c.1557_1580del" "r.(?)" "p.(Asp519_Phe526del)" "" "0000524549" "00015798" "30" "2397" "8732" "2397" "8732" "c.2397+8732G>A" "r.(=)" "p.(=)" "" "0000524552" "00015798" "30" "2397" "9929" "2397" "9929" "c.2397+9929A>C" "r.(=)" "p.(=)" "" "0000524553" "00015798" "30" "2397" "13103" "2397" "13103" "c.2397+13103A>C" "r.(=)" "p.(=)" "" "0000524555" "00015798" "30" "2397" "18883" "2397" "18883" "c.2397+18883C>T" "r.(=)" "p.(=)" "" "0000524556" "00015798" "50" "2397" "23117" "2397" "23117" "c.2397+23117A>G" "r.(=)" "p.(=)" "" "0000524561" "00015798" "50" "2397" "32618" "2397" "32620" "c.2397+32618_2397+32620del" "r.(=)" "p.(=)" "" "0000524562" "00015798" "30" "2397" "33007" "2397" "33009" "c.2397+33007_2397+33009del" "r.(=)" "p.(=)" "" "0000524563" "00015798" "30" "2397" "40573" "2397" "40573" "c.2397+40573G>A" "r.(=)" "p.(=)" "" "0000524564" "00015798" "50" "2734" "0" "2734" "0" "c.2734G>A" "r.(?)" "p.(Gly912Ser)" "" "0000596969" "00015798" "50" "2534" "0" "2534" "0" "c.2534C>T" "r.(?)" "p.(Ala845Val)" "" "0000609535" "00015798" "50" "-35226" "0" "-35226" "0" "c.-35226T>C" "r.(?)" "p.(=)" "" "0000609536" "00015798" "50" "2397" "15151" "2397" "15155" "c.2397+15151_2397+15155dup" "r.(=)" "p.(=)" "" "0000609537" "00015798" "50" "2470" "0" "2470" "0" "c.2470G>A" "r.(?)" "p.(Asp824Asn)" "" "0000683657" "00015798" "30" "2397" "22926" "2397" "22926" "c.2397+22926C>G" "r.(=)" "p.(=)" "" "0000720225" "00015798" "30" "-26421" "0" "-26421" "0" "c.-26421C>T" "r.(?)" "p.(=)" "" "0000720226" "00015798" "30" "2397" "13316" "2397" "13316" "c.2397+13316G>T" "r.(=)" "p.(=)" "" "0000801927" "00015798" "50" "178" "0" "178" "0" "c.178G>C" "r.(?)" "p.(Glu60Gln)" "" "0000801928" "00015798" "30" "2280" "0" "2280" "0" "c.2280G>A" "r.(?)" "p.(Thr760=)" "" "0000850805" "00015798" "30" "-13781" "0" "-13781" "0" "c.-13781T>G" "r.(?)" "p.(=)" "" "0000850806" "00015798" "50" "2398" "-7368" "2398" "-7368" "c.2398-7368T>A" "r.(=)" "p.(=)" "" "0000859785" "00015798" "50" "-26237" "0" "-26237" "0" "c.-26237G>A" "r.(?)" "p.(=)" "" "0000859786" "00015798" "30" "2397" "13652" "2397" "13652" "c.2397+13652G>T" "r.(=)" "p.(=)" "" "0000886648" "00015798" "30" "8504" "0" "8504" "0" "c.*5732C>T" "r.(=)" "p.(=)" "" "0000976603" "00015798" "50" "-42309" "0" "-42309" "0" "c.-42309T>A" "r.(?)" "p.(=)" "" "0000976604" "00015798" "30" "-41804" "0" "-41804" "0" "c.-41804A>T" "r.(?)" "p.(=)" "" "0000976605" "00015798" "50" "2627" "0" "2627" "0" "c.2627T>G" "r.(?)" "p.(Leu876Arg)" "" "0000994711" "00015798" "50" "2397" "2734" "2397" "2734" "c.2397+2734T>A" "r.(=)" "p.(=)" "" "0000994712" "00015798" "30" "2397" "3943" "2397" "3943" "c.2397+3943A>G" "r.(=)" "p.(=)" "" "0000994713" "00015798" "50" "2397" "4224" "2397" "4224" "c.2397+4224C>A" "r.(=)" "p.(=)" "" "0000994714" "00015798" "30" "2397" "42330" "2397" "42330" "c.2397+42330T>G" "r.(=)" "p.(=)" "" "0001034945" "00015798" "50" "-37190" "0" "-37190" "0" "c.-37190del" "r.(?)" "p.(=)" "" "0001034946" "00015798" "30" "-36403" "0" "-36393" "0" "c.-36403_-36393delinsAGGGAGCAGAA" "r.(?)" "p.(=)" "" "0001034947" "00015798" "30" "-36393" "0" "-36393" "0" "c.-36393C>A" "r.(?)" "p.(=)" "" "0001034948" "00015798" "50" "2398" "-8908" "2398" "-8908" "c.2398-8908C>G" "r.(=)" "p.(=)" "" "0001034949" "00015798" "50" "2398" "-8337" "2398" "-8337" "c.2398-8337C>T" "r.(=)" "p.(=)" "" "0001034950" "00015798" "30" "2446" "0" "2446" "0" "c.2446G>A" "r.(?)" "p.(Gly816Ser)" "" "0001052129" "00015798" "50" "-56246" "0" "-56246" "0" "c.-56246G>C" "r.(?)" "p.(=)" "" "0001052130" "00015798" "50" "-56227" "0" "-56227" "0" "c.-56227C>T" "r.(?)" "p.(=)" "" "0001052131" "00015798" "70" "2398" "-7605" "2398" "-7605" "c.2398-7605C>T" "r.(=)" "p.(=)" "" "0001052132" "00015798" "50" "2635" "0" "2635" "0" "c.2635G>A" "r.(?)" "p.(Val879Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000050127" "0000079079" "0000050520" "0000079500" "0000165851" "0000369608" "0000165867" "0000369635" "0000227218" "0000683657" "0000266323" "0000596969"