### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PADI6) # 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}}" "PADI6" "peptidyl arginine deiminase, type VI" "1" "p36.13" "unknown" "NC_000001.10" "UD_134711228345" "" "https://www.LOVD.nl/PADI6" "" "1" "20449" "353238" "610363" "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/PADI6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-12-27 11:59:52" "00006" "2024-12-27 12:10:11" ## 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}}" "00015596" "PADI6" "peptidyl arginine deiminase, type VI" "001" "NM_207421.3" "" "NP_997304.3" "" "" "" "1" "2347" "2086" "17698741" "17728195" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00231" "BWS" "Beckwith-Wiedemann syndrome (BWS)" "AD" "130650" "" "" "" "00006" "2013-10-09 19:27:53" "00006" "2021-12-10 21:51:32" "05380" "PREMBL2" "lethality, embryonic, preimplantation, type 2 (PREMBL-2)" "AR" "617234" "" "autosomal recessive" "" "00006" "2018-01-26 10:17:36" "00006" "2021-12-10 21:51:32" "05382" "PREMBL" "lethality, embryonic, preimplantation (PREMBL)" "" "" "" "" "" "00006" "2018-01-26 10:25:12" "" "" "07114" "MLID" "multilocus imprinting disturbances" "" "" "" "" "" "00006" "2024-11-11 09:01:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PADI6" "05380" "PADI6" "05382" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00151816" "" "" "" "1" "" "02374" "" "3-generation family, one affected (F), unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "1469" "00151817" "" "" "" "3" "" "00006" "{PMID:Xu 2016:27545678}, {DOI:Xu 2016:10.1016/j.ajhg.2016.06.024}" "3-generation family, 3 affected sisters (3F), unaffected heterozygous carrier parents/sibs, homozygous brother" "F" "yes" "China" "" "0" "" "" "" "27545678-Fam1PatIV5" "00151818" "" "" "" "1" "" "00006" "{PMID:Xu 2016:27545678}, {DOI:Xu 2016:10.1016/j.ajhg.2016.06.024}" "1-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "27545678-Fam2" "00151819" "" "" "" "1" "" "00006" "{PMID:Xu 2016:27545678}, {DOI:Xu 2016:10.1016/j.ajhg.2016.06.024}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "27545678-Fam3" "00301347" "" "" "" "1" "" "00663" "" "" "F" "no" "Germany" "" "0" "" "" "" "14218" "00457422" "" "" "" "2" "" "00006" "{PMID:Begemann 2018:29574422}" "mother of affected child; no DNA child" "F" "" "" "" "0" "" "" "" "Fam9" "00457423" "" "" "" "2" "" "00006" "{PMID:Begemann 2018:29574422}" "mother of affected child" "F" "" "" "" "0" "" "" "" "Fam10" "00457424" "" "" "" "2" "" "00006" "{PMID:Begemann 2018:29574422}" "mother of affected child" "F" "" "" "" "0" "" "" "" "Fam11" "00457425" "" "" "" "2" "" "00006" "{PMID:Begemann 2018:29574422}" "mother of affected child" "F" "" "" "" "0" "" "" "" "Fam12" "00457434" "" "" "00457423" "1" "" "00006" "{PMID:Begemann 2018:29574422}" "son" "M" "" "" "" "0" "" "" "" "Fam10Pat" "00457435" "" "" "00457424" "1" "" "00006" "{PMID:Begemann 2018:29574422}" "son" "M" "" "" "" "0" "" "" "" "Fam11Pat" "00457436" "" "" "00457425" "1" "" "00006" "{PMID:Begemann 2018:29574422}" "son" "M" "" "Germany" "" "0" "" "" "" "Fam12Pat" "00458504" "" "" "" "1" "" "04780" "" "" "" "" "" "" "" "" "" "" "" "00458505" "" "" "" "1" "" "04780" "" "" "" "" "" "" "" "" "" "" "" "00458506" "" "" "" "1" "" "04780" "" "" "F" "" "" "" "" "" "" "" "" "00458507" "" "" "" "1" "" "04780" "" "" "F" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00151816" "00198" "00151817" "05382" "00151818" "05382" "00151819" "05382" "00301347" "00231" "00457422" "07114" "00457423" "07114" "00457424" "07114" "00457425" "07114" "00457434" "07114" "00457435" "07114" "00457436" "07114" "00458504" "05382" "00458505" "05382" "00458506" "05382" "00458507" "05382" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00231, 05380, 05382, 07114 ## Count = 16 "{{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}}" "0000124185" "00198" "00151816" "02374" "Unknown" "" "recurrent reproductive losses, 1 molar pregnancy" "" "" "" "" "" "" "" "" "" "" "" "0000124186" "05382" "00151817" "00006" "Familial, autosomal recessive" "34y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000124187" "05382" "00151818" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124188" "05382" "00151819" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000228540" "00231" "00301347" "00663" "Unknown" "38y" "recurrent miscarriages, MLID in children" "" "" "" "" "" "" "" "" "" "" "" "0000345886" "07114" "00457422" "00006" "Unknown" "" "see paper; ..., affected is only chaild" "" "" "" "" "" "" "" "" "" "healthy" "" "0000345887" "07114" "00457423" "00006" "Unknown" "" "see paper; ..., affected is only chaild" "" "" "" "" "" "" "" "" "" "healthy" "" "0000345888" "07114" "00457424" "00006" "Unknown" "" "see paper; ..., 2 healthy children" "" "" "" "" "" "" "" "" "" "healthy" "" "0000345889" "07114" "00457425" "00006" "Unknown" "" "see paper; ..., affected is only chaild" "" "" "" "" "" "" "" "" "" "healthy" "" "0000345898" "07114" "00457434" "00006" "Unknown" "" "see paper; ..., 39w-birth weight 90th-97th centile; macrosomia, macroglossia, asymmetry, naevus flammeus, ear creases, developmental delay" "" "" "" "" "" "" "" "" "" "Beckwith Wiedemann syndrome (multilocus imprinting disturbances)" "" "0000345899" "07114" "00457435" "00006" "Unknown" "" "see paper; ..., pre- and postnatal growth restriction and asymmetry; referred Silver Russell syndrome (NH-CSS negative 3/6), no relative macrocephaly, no feeding difficulties, no protruding forehead; developmental delay" "" "" "" "" "" "" "" "" "" "Silver Russell syndrome (multilocus imprinting disturbances)" "" "0000345900" "07114" "00457436" "00006" "Unknown" "" "see paper; ..., birth at term; Silver Russell syndrome (NH-CSS 4/6): no feeding difficulties, no asymmetry" "" "" "" "" "" "" "" "" "" "Silver Russell syndrome (multilocus imprinting disturbances)" "" "0000346942" "05382" "00458504" "04780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000346943" "05382" "00458505" "04780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000346944" "05382" "00458506" "04780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000346945" "05382" "00458507" "04780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000152673" "00151816" "1" "02374" "02374" "2018-01-25 22:32:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000152674" "00151817" "1" "00006" "00006" "2018-01-26 10:33:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000152675" "00151818" "1" "00006" "00006" "2018-01-26 10:42:28" "" "" "SEQ" "DNA" "" "" "0000152676" "00151819" "1" "00006" "00006" "2018-01-26 10:47:59" "" "" "SEQ" "DNA" "" "" "0000302468" "00301347" "1" "00663" "00663" "2020-05-15 08:30:57" "" "" "SEQ-NG" "DNA" "lymphocytes" "" "0000459043" "00457422" "1" "00006" "00006" "2024-11-11 15:11:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459044" "00457423" "1" "00006" "00006" "2024-11-11 15:11:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459045" "00457424" "1" "00006" "00006" "2024-11-11 15:11:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459046" "00457425" "1" "00006" "00006" "2024-11-11 15:11:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459055" "00457434" "1" "00006" "00006" "2024-11-11 15:36:28" "" "" "SEQ-NG" "DNA" "" "" "0000459056" "00457435" "1" "00006" "00006" "2024-11-11 15:36:28" "" "" "SEQ-NG" "DNA" "" "" "0000459057" "00457436" "1" "00006" "00006" "2024-11-11 15:36:28" "" "" "SEQ-NG" "DNA" "" "" "0000460126" "00458504" "1" "04780" "04780" "2024-12-15 12:12:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000460127" "00458505" "1" "04780" "04780" "2024-12-15 12:26:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000460128" "00458506" "1" "04780" "04780" "2024-12-15 12:30:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000460129" "00458507" "1" "04780" "04780" "2024-12-15 12:35:10" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000152673" "PADI6" "0000152674" "PADI6" "0000152675" "PADI6" "0000152676" "PADI6" "0000302468" "PADI6" "0000460126" "PADI6" "0000460127" "PADI6" "0000460128" "PADI6" "0000460129" "PADI6" ## 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 = 25 "{{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}}" "0000351498" "1" "90" "1" "17725285" "17725285" "subst" "0" "02374" "PADI6_000001" "g.17725285A>G" "" "" "" "chr1:17725285" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000351499" "2" "90" "1" "17727894" "17727894" "subst" "8.12394E-6" "02374" "PADI6_000002" "g.17727894G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.17401398G>A" "" "pathogenic (recessive)" "" "0000351500" "3" "90" "1" "17720537" "17720537" "subst" "0" "00006" "PADI6_000003" "g.17720537C>T" "" "{PMID:Xu 2016:27545678}, {DOI:Xu 2016:10.1016/j.ajhg.2016.06.024}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17394041C>T" "" "pathogenic (recessive)" "" "0000351502" "11" "90" "1" "17727858" "17727859" "del" "0" "00006" "PADI6_000004" "g.17727858_17727859del" "" "{PMID:Xu 2016:27545678}, {DOI:Xu 2016:10.1016/j.ajhg.2016.06.024}" "" "delAG" "" "Germline" "" "" "0" "" "" "g.17401362_17401363del" "" "pathogenic (recessive)" "" "0000351503" "21" "70" "1" "17708541" "17708541" "subst" "2.84294E-5" "00006" "PADI6_000005" "g.17708541T>A" "" "{PMID:Xu 2016:27545678}, {DOI:Xu 2016:10.1016/j.ajhg.2016.06.024}" "" "" "" "Germline" "" "" "0" "" "" "g.17382046T>A" "" "pathogenic (recessive)" "" "0000351504" "11" "70" "1" "17722159" "17722159" "subst" "0" "00006" "PADI6_000006" "g.17722159G>A" "" "{PMID:Xu 2016:27545678}, {DOI:Xu 2016:10.1016/j.ajhg.2016.06.024}" "" "" "" "Germline" "" "" "0" "" "" "g.17395663G>A" "" "pathogenic (recessive)" "" "0000351505" "21" "90" "1" "17718616" "17718616" "subst" "0" "00006" "PADI6_000007" "g.17718616C>T" "" "{PMID:Xu 2016:27545678}, {DOI:Xu 2016:10.1016/j.ajhg.2016.06.024}" "" "" "" "Germline" "" "" "0" "" "" "g.17392121C>T" "" "pathogenic (recessive)" "" "0000665756" "0" "70" "1" "17727918" "17727918" "subst" "0" "00663" "PADI6_000008" "g.17727918G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17401422G>A" "" "VUS" "" "0001016754" "1" "90" "1" "17715315" "17715315" "subst" "2.03355E-5" "00006" "PADI6_000009" "g.17715315G>A" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline/De novo (untested)" "" "rs755969432" "0" "normal epigenotype" "" "g.17388820G>A" "" "pathogenic (!)" "" "0001016755" "1" "90" "1" "17720520" "17720520" "subst" "4.06105E-6" "00006" "PADI6_000014" "g.17720520T>C" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline/De novo (untested)" "" "" "0" "normal epigenotype" "" "g.17394024T>C" "" "pathogenic (!)" "" "0001016756" "1" "90" "1" "17718693" "17718693" "subst" "0" "00006" "PADI6_000013" "g.17718693A>G" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline/De novo (untested)" "" "" "0" "normal epigenotype" "" "g.17392197A>G" "" "pathogenic (!)" "" "0001016757" "1" "90" "1" "17706480" "17706480" "subst" "0" "00006" "PADI6_000012" "g.17706480A>G" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline/De novo (untested)" "" "" "0" "normal epigenotype" "" "g.17379985A>G" "" "pathogenic (!)" "" "0001016767" "21" "10" "1" "0" "0" "" "" "00006" "PADI6_000000" "g.=" "" "{PMID:Begemann 2018:29574422}" "" "" "mother carries variants affecting embryonic imprinting" "Germline" "" "" "0" "" "" "g.=" "" "benign (!)" "" "0001016768" "21" "10" "1" "0" "0" "" "" "00006" "PADI6_000000" "g.=" "" "{PMID:Begemann 2018:29574422}" "" "" "mother carries variants affecting embryonic imprinting" "Germline" "" "" "0" "" "" "g.=" "" "benign (!)" "" "0001016775" "2" "90" "1" "17720911" "17720911" "subst" "4.07083E-5" "00006" "PADI6_000010" "g.17720911C>T" "" "{PMID:Begemann 2018:29574422}" "" "" "variant affects embryonic imprinting" "Germline" "" "rs759006424" "0" "normal epigenotype" "" "g.17394415C>T" "" "pathogenic (!)" "" "0001016776" "21" "50" "1" "17723587" "17723587" "subst" "0.000524237" "00006" "PADI6_000011" "g.17723587G>A" "" "{PMID:Begemann 2018:29574422}" "" "" "variant may affect embryonic imprinting" "Germline" "" "rs150981529" "0" "multilocus imprinting disturbances; hypomethylation KCNQ1OT1, GRB10, H19, MEST, IGF2R, IGF1R" "" "g.17397091G>A" "" "VUS (!)" "" "0001016777" "2" "50" "1" "17723587" "17723587" "subst" "0.000524237" "00006" "PADI6_000011" "g.17723587G>A" "" "{PMID:Begemann 2018:29574422}" "" "" "variant may affect embryonic imprinting" "Germline" "" "rs150981529" "0" "normal epigenotype" "" "g.17397091G>A" "" "VUS (!)" "" "0001019088" "11" "90" "1" "17708460" "17708460" "subst" "0" "04780" "PADI6_000015" "g.17708460A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17381965A>G" "" "likely pathogenic" "ACMG" "0001019089" "21" "70" "1" "17715315" "17715315" "subst" "0" "04780" "PADI6_000016" "g.17715315G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17388820G>T" "" "VUS" "ACMG" "0001019090" "10" "90" "1" "17720526" "17720526" "del" "0" "04780" "PADI6_000017" "g.17720526del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17394030del" "" "likely pathogenic" "ACMG" "0001019091" "21" "70" "1" "17720857" "17720857" "subst" "0" "04780" "PADI6_000018" "g.17720857C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17394361C>A" "" "VUS" "ACMG" "0001019092" "10" "90" "1" "17708460" "17708460" "subst" "0" "04780" "PADI6_000015" "g.17708460A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17381965A>G" "" "likely pathogenic" "ACMG" "0001019093" "21" "70" "1" "17721512" "17721512" "subst" "0" "04780" "PADI6_000019" "g.17721512C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17395016C>T" "" "VUS" "ACMG" "0001019094" "0" "90" "1" "17701994" "17701994" "subst" "0" "04780" "PADI6_000020" "g.17701994G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17375499G>T" "" "likely pathogenic" "ACMG" "0001019095" "0" "90" "1" "17721496" "17721496" "subst" "0" "04780" "PADI6_000021" "g.17721496C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17395000C>T" "" "likely pathogenic (recessive)" "ACMG" ## 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 PADI6 ## Count = 25 "{{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}}" "0000351498" "00015596" "90" "1793" "0" "1793" "0" "c.1793A>G" "r.(?)" "p.(Asn598Ser)" "16" "0000351499" "00015596" "90" "2045" "0" "2045" "0" "c.2045G>A" "r.(?)" "p.(Arg682Gln)" "17" "0000351500" "00015596" "90" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Gln381*)" "10" "0000351502" "00015596" "90" "2009" "0" "2010" "0" "c.2009_2010del" "r.(?)" "p.(Glu670Glyfs*48)" "16" "0000351503" "00015596" "70" "633" "0" "633" "0" "c.633T>A" "r.(?)" "p.(His211Gln)" "6" "0000351504" "00015596" "70" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Gly540Arg)" "13" "0000351505" "00015596" "90" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Gln324*)" "9" "0000665756" "00015596" "70" "2069" "0" "2069" "0" "c.2069G>A" "r.(?)" "p.(Trp690*)" "" "0001016754" "00015596" "90" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "" "0001016755" "00015596" "90" "1124" "0" "1124" "0" "c.1124T>C" "r.(?)" "p.(Leu375Ser)" "" "0001016756" "00015596" "90" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Asp349Gly)" "" "0001016757" "00015596" "90" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Lys145Glu)" "" "0001016767" "00015596" "10" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "" "0001016768" "00015596" "10" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "" "0001016775" "00015596" "90" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Pro433Leu)" "" "0001016776" "00015596" "50" "1639" "0" "1639" "0" "c.1639G>A" "r.(?)" "p.(Asp547Asn)" "" "0001016777" "00015596" "50" "1639" "0" "1639" "0" "c.1639G>A" "r.(?)" "p.(Asp547Asn)" "" "0001019088" "00015596" "90" "554" "-2" "554" "-2" "c.554-2A>G" "r.spl" "p.?" "" "0001019089" "00015596" "70" "902" "0" "902" "0" "c.902G>T" "r.(?)" "p.(Arg301Leu)" "" "0001019090" "00015596" "90" "1130" "0" "1130" "0" "c.1130del" "r.(?)" "p.(Leu377ProfsTer14)" "" "0001019091" "00015596" "70" "1244" "0" "1244" "0" "c.1244C>A" "r.(?)" "p.(Ser415Tyr)" "" "0001019092" "00015596" "90" "554" "-2" "554" "-2" "c.554-2A>G" "r.spl" "p.?" "" "0001019093" "00015596" "70" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Pro468Leu)" "" "0001019094" "00015596" "90" "367" "0" "367" "0" "c.367G>T" "r.(?)" "p.(Glu123Ter)" "" "0001019095" "00015596" "90" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Gln463Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000152673" "0000351498" "0000152673" "0000351499" "0000152674" "0000351500" "0000152675" "0000351502" "0000152675" "0000351503" "0000152676" "0000351504" "0000152676" "0000351505" "0000302468" "0000665756" "0000459043" "0001016754" "0000459043" "0001016775" "0000459044" "0001016755" "0000459044" "0001016777" "0000459045" "0001016756" "0000459046" "0001016757" "0000459055" "0001016776" "0000459056" "0001016767" "0000459057" "0001016768" "0000460126" "0001019088" "0000460126" "0001019089" "0000460127" "0001019090" "0000460127" "0001019091" "0000460128" "0001019092" "0000460128" "0001019093" "0000460129" "0001019094" "0000460129" "0001019095"