### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CFC1) # 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}}" "CFC1" "cripto, FRL-1, cryptic family 1" "2" "q21.2" "unknown" "NG_008148.1" "UD_134408413717" "" "https://www.LOVD.nl/CFC1" "" "1" "18292" "55997" "605194" "1" "1" "1" "1" "We gratefully acknowledge Aimée Paulussen for acting as a curator untill 2016. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-21 12:27:08" "00000" "2025-02-07 18:57:27" ## 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}}" "00005030" "CFC1" "transcript variant 1" "003" "NM_032545.3" "" "NP_115934.1" "" "" "" "-288" "1384" "672" "131357148" "131349738" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02546" "HTX2" "heterotaxy, visceral, autosomal, type 2 (HTX-2, situs ambiguus)" "AD" "605376" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CFC1" "02546" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02546 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 46 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000270024" "0" "30" "2" "131350606" "131350606" "subst" "0.000140489" "02326" "CFC1_000004" "g.131350606G>A" "" "" "" "CFC1(NM_032545.3):c.516C>T (p.A172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130593033G>A" "" "likely benign" "" "0000270025" "0" "30" "2" "131350534" "131350534" "subst" "0.0229962" "02326" "CFC1_000002" "g.131350534G>T" "" "" "" "CFC1(NM_032545.3):c.588C>A (p.P196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130592961G>T" "" "likely benign" "" "0000273274" "0" "10" "2" "131355106" "131355106" "subst" "0" "01943" "CFC1_000005" "g.131355106C>T" "" "" "" "CFC1(NM_032545.3):c.433G>A (p.A145T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130597533C>T" "" "benign" "" "0000273275" "0" "90" "2" "131350600" "131350600" "del" "0" "01943" "CFC1_000003" "g.131350600del" "" "" "" "CFC1(NM_001270420.1):c.407del (p.(Ala136Glyfs*61)), CFC1(NM_032545.3):c.522delC (p.A175Rfs*56), CFC1(NM_032545.4):c.522delC (p.A175Rfs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130593027del" "" "pathogenic" "" "0000273276" "0" "30" "2" "131350456" "131350456" "subst" "9.9453E-5" "01943" "CFC1_000001" "g.131350456G>T" "" "" "" "CFC1(NM_032545.3):c.666C>A (p.R222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130592883G>T" "" "likely benign" "" "0000327236" "0" "50" "2" "131356247" "131356247" "subst" "0" "01804" "CFC1_000006" "g.131356247T>A" "" "" "" "CFC1(NM_032545.3):c.215A>T (p.(Glu72Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130598674T>A" "" "VUS" "" "0000509194" "0" "30" "2" "131350411" "131350411" "subst" "0" "02327" "CFC1_000007" "g.131350411C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130592838C>T" "" "likely benign" "" "0000509195" "0" "30" "2" "131350415" "131350415" "subst" "0.000133404" "02327" "CFC1_000008" "g.131350415A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130592842A>G" "" "likely benign" "" "0000509196" "0" "70" "2" "131350482" "131350482" "subst" "0" "02327" "CFC1_000009" "g.131350482A>G" "" "" "" "CFC1(NM_032545.3):c.640T>C (p.C214R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130592909A>G" "" "likely pathogenic" "" "0000509197" "0" "30" "2" "131350516" "131350516" "subst" "0" "02327" "CFC1_000010" "g.131350516C>G" "" "" "" "CFC1(NM_001270420.2):c.491G>C (p.(Trp164Ser)), CFC1(NM_032545.3):c.606G>C (p.L202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130592943C>G" "" "likely benign" "" "0000509198" "0" "30" "2" "131350516" "131350516" "subst" "0" "02326" "CFC1_000010" "g.131350516C>G" "" "" "" "CFC1(NM_001270420.2):c.491G>C (p.(Trp164Ser)), CFC1(NM_032545.3):c.606G>C (p.L202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130592943C>G" "" "likely benign" "" "0000509200" "0" "30" "2" "131350534" "131350534" "subst" "0.0229962" "02327" "CFC1_000002" "g.131350534G>T" "" "" "" "CFC1(NM_032545.3):c.588C>A (p.P196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130592961G>T" "" "likely benign" "" "0000509201" "0" "50" "2" "131350599" "131350599" "subst" "0" "02327" "CFC1_000011" "g.131350599C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130593026C>T" "" "VUS" "" "0000509202" "0" "50" "2" "131350600" "131350601" "del" "0" "01804" "CFC1_000012" "g.131350600_131350601del" "" "" "" "CFC1(NM_001270420.1):c.410_411del (p.(Arg137ProfsTer49))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130593027_130593028del" "" "VUS" "" "0000509203" "0" "50" "2" "131350600" "131350600" "del" "0" "01804" "CFC1_000003" "g.131350600del" "" "" "" "CFC1(NM_001270420.1):c.407del (p.(Ala136Glyfs*61)), CFC1(NM_032545.3):c.522delC (p.A175Rfs*56), CFC1(NM_032545.4):c.522delC (p.A175Rfs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130593027del" "" "VUS" "" "0000509205" "0" "70" "2" "131350600" "131350600" "del" "0" "02326" "CFC1_000003" "g.131350600del" "" "" "" "CFC1(NM_001270420.1):c.407del (p.(Ala136Glyfs*61)), CFC1(NM_032545.3):c.522delC (p.A175Rfs*56), CFC1(NM_032545.4):c.522delC (p.A175Rfs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130593027del" "" "likely pathogenic" "" "0000509206" "0" "30" "2" "131350613" "131350613" "subst" "0" "02327" "CFC1_000013" "g.131350613G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130593040G>C" "" "likely benign" "" "0000509207" "0" "50" "2" "131350638" "131350638" "subst" "0" "02327" "CFC1_000014" "g.131350638A>G" "" "" "" "CFC1(NM_032545.3):c.484T>C (p.F162L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130593065A>G" "" "VUS" "" "0000509208" "0" "30" "2" "131355053" "131355053" "subst" "0" "02327" "CFC1_000015" "g.131355053A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130597480A>T" "" "likely benign" "" "0000509210" "0" "30" "2" "131355253" "131355253" "subst" "0" "02327" "CFC1_000016" "g.131355253C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130597680C>G" "" "likely benign" "" "0000509211" "0" "50" "2" "131355511" "131355511" "subst" "0" "02327" "CFC1_000017" "g.131355511C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130597938C>G" "" "VUS" "" "0000509212" "0" "30" "2" "131355524" "131355524" "subst" "0" "02327" "CFC1_000018" "g.131355524G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130597951G>A" "" "likely benign" "" "0000509213" "0" "30" "2" "131355559" "131355559" "subst" "0" "02327" "CFC1_000019" "g.131355559C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130597986C>T" "" "likely benign" "" "0000509214" "0" "30" "2" "131355590" "131355590" "subst" "0" "02327" "CFC1_000020" "g.131355590C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598017C>G" "" "likely benign" "" "0000509215" "0" "10" "2" "131355591" "131355591" "subst" "0" "02327" "CFC1_000021" "g.131355591C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598018C>T" "" "benign" "" "0000509216" "0" "30" "2" "131356197" "131356197" "subst" "0" "02327" "CFC1_000022" "g.131356197G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598624G>C" "" "likely benign" "" "0000509217" "0" "50" "2" "131356230" "131356230" "subst" "0" "02327" "CFC1_000023" "g.131356230G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598657G>A" "" "VUS" "" "0000509218" "0" "30" "2" "131356237" "131356237" "subst" "0" "02327" "CFC1_000024" "g.131356237G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598664G>T" "" "likely benign" "" "0000509219" "0" "30" "2" "131356266" "131356266" "subst" "0" "02327" "CFC1_000025" "g.131356266C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598693C>G" "" "likely benign" "" "0000509220" "0" "30" "2" "131356270" "131356270" "subst" "4.16934E-6" "02327" "CFC1_000026" "g.131356270G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598697G>A" "" "likely benign" "" "0000509221" "0" "10" "2" "131356322" "131356322" "subst" "0.0134965" "01804" "CFC1_000027" "g.131356322C>T" "" "" "" "CFC1(NM_001270420.1):c.140G>A (p.(Arg47Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598749C>T" "" "benign" "" "0000509222" "0" "30" "2" "131356322" "131356322" "subst" "0.0134965" "02327" "CFC1_000027" "g.131356322C>T" "" "" "" "CFC1(NM_001270420.1):c.140G>A (p.(Arg47Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598749C>T" "" "likely benign" "" "0000509223" "0" "50" "2" "131356483" "131356483" "subst" "1.52462E-5" "02327" "CFC1_000028" "g.131356483T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598910T>C" "" "VUS" "" "0000509224" "0" "30" "2" "131356493" "131356493" "subst" "0.00675597" "02327" "CFC1_000029" "g.131356493A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598920A>G" "" "likely benign" "" "0000509225" "0" "50" "2" "131356493" "131356495" "delins" "0" "02327" "CFC1_000030" "g.131356493_131356495delinsGTG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598920_130598922delinsGTG" "" "VUS" "" "0000509227" "0" "10" "2" "131356495" "131356495" "subst" "0.0126149" "02325" "CFC1_000031" "g.131356495T>G" "" "" "" "CFC1(NM_032545.4):c.61A>C (p.N21H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598922T>G" "" "benign" "" "0000509228" "0" "30" "2" "131356557" "131356557" "subst" "0.0206076" "02327" "CFC1_000032" "g.131356557G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598984G>A" "" "likely benign" "" "0000509229" "0" "30" "2" "131356594" "131356594" "subst" "0" "02327" "CFC1_000033" "g.131356594C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130599021C>T" "" "likely benign" "" "0000509230" "0" "50" "2" "131356832" "131356832" "subst" "0" "02327" "CFC1_000034" "g.131356832C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130599259C>G" "" "VUS" "" "0000606095" "0" "30" "2" "131356495" "131356495" "subst" "0.0126149" "02327" "CFC1_000031" "g.131356495T>G" "" "" "" "CFC1(NM_032545.4):c.61A>C (p.N21H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598922T>G" "" "likely benign" "" "0000620728" "0" "50" "2" "131356365" "131356365" "subst" "1.65274E-5" "02326" "CFC1_000035" "g.131356365C>T" "" "" "" "CFC1(NM_032545.3):c.97G>A (p.G33S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130598792C>T" "" "VUS" "" "0000676012" "0" "10" "2" "131350638" "131350638" "subst" "0" "02326" "CFC1_000014" "g.131350638A>G" "" "" "" "CFC1(NM_032545.3):c.484T>C (p.F162L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688316" "0" "50" "2" "131350482" "131350482" "subst" "0" "02326" "CFC1_000009" "g.131350482A>G" "" "" "" "CFC1(NM_032545.3):c.640T>C (p.C214R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717837" "0" "50" "2" "131356317" "131356326" "del" "0" "02326" "CFC1_000036" "g.131356317_131356326del" "" "" "" "CFC1(NM_032545.3):c.141_150delACAGTCACCG (p.Q48Sfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974282" "0" "30" "2" "131350516" "131350516" "subst" "0" "01804" "CFC1_000010" "g.131350516C>G" "" "" "" "CFC1(NM_001270420.2):c.491G>C (p.(Trp164Ser)), CFC1(NM_032545.3):c.606G>C (p.L202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024231" "0" "50" "2" "131350600" "131350600" "del" "0" "02325" "CFC1_000003" "g.131350600del" "" "" "" "CFC1(NM_001270420.1):c.407del (p.(Ala136Glyfs*61)), CFC1(NM_032545.3):c.522delC (p.A175Rfs*56), CFC1(NM_032545.4):c.522delC (p.A175Rfs*56)" "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 CFC1 ## Count = 46 "{{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}}" "{{VariantOnTranscript/Variant/Type}}" "0000270024" "00005030" "30" "516" "0" "516" "0" "c.516C>T" "r.(?)" "p.(Ala172=)" "" "" "0000270025" "00005030" "30" "588" "0" "588" "0" "c.588C>A" "r.(?)" "p.(Pro196=)" "" "" "0000273274" "00005030" "10" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Ala145Thr)" "" "" "0000273275" "00005030" "90" "522" "0" "522" "0" "c.522del" "r.(?)" "p.(Ala175ArgfsTer56)" "" "" "0000273276" "00005030" "30" "666" "0" "666" "0" "c.666C>A" "r.(?)" "p.(Arg222=)" "" "" "0000327236" "00005030" "50" "215" "0" "215" "0" "c.215A>T" "r.(?)" "p.(Glu72Val)" "" "" "0000509194" "00005030" "30" "711" "0" "711" "0" "c.*39G>A" "r.(=)" "p.(=)" "" "" "0000509195" "00005030" "30" "707" "0" "707" "0" "c.*35T>C" "r.(=)" "p.(=)" "" "" "0000509196" "00005030" "70" "640" "0" "640" "0" "c.640T>C" "r.(?)" "p.(Cys214Arg)" "" "" "0000509197" "00005030" "30" "606" "0" "606" "0" "c.606G>C" "r.(?)" "p.(Leu202=)" "" "" "0000509198" "00005030" "30" "606" "0" "606" "0" "c.606G>C" "r.(?)" "p.(Leu202=)" "" "" "0000509200" "00005030" "30" "588" "0" "588" "0" "c.588C>A" "r.(?)" "p.(Pro196=)" "" "" "0000509201" "00005030" "50" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Ala175Thr)" "" "" "0000509202" "00005030" "50" "525" "0" "526" "0" "c.525_526del" "r.(?)" "p.(Pro176GlnfsTer59)" "" "" "0000509203" "00005030" "50" "522" "0" "522" "0" "c.522del" "r.(?)" "p.(Ala175ArgfsTer56)" "" "" "0000509205" "00005030" "70" "522" "0" "522" "0" "c.522del" "r.(?)" "p.(Ala175ArgfsTer56)" "" "" "0000509206" "00005030" "30" "509" "0" "509" "0" "c.509C>G" "r.(?)" "p.(Pro170Arg)" "" "" "0000509207" "00005030" "50" "484" "0" "484" "0" "c.484T>C" "r.(?)" "p.(Phe162Leu)" "" "" "0000509208" "00005030" "30" "472" "14" "472" "14" "c.472+14T>A" "r.(=)" "p.(=)" "" "" "0000509210" "00005030" "30" "363" "-77" "363" "-77" "c.363-77G>C" "r.(=)" "p.(=)" "" "" "0000509211" "00005030" "50" "292" "0" "292" "0" "c.292G>C" "r.(?)" "p.(Val98Leu)" "" "" "0000509212" "00005030" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Asn93=)" "" "" "0000509213" "00005030" "30" "248" "-4" "248" "-4" "c.248-4G>A" "r.spl?" "p.?" "" "" "0000509214" "00005030" "30" "248" "-35" "248" "-35" "c.248-35G>C" "r.(=)" "p.(=)" "" "" "0000509215" "00005030" "10" "248" "-36" "248" "-36" "c.248-36G>A" "r.(=)" "p.(=)" "" "" "0000509216" "00005030" "30" "247" "18" "247" "18" "c.247+18C>G" "r.(=)" "p.(=)" "" "" "0000509217" "00005030" "50" "232" "0" "232" "0" "c.232C>T" "r.(?)" "p.(Arg78Trp)" "" "" "0000509218" "00005030" "30" "225" "0" "225" "0" "c.225C>A" "r.(?)" "p.(Pro75=)" "" "" "0000509219" "00005030" "30" "196" "0" "196" "0" "c.196G>C" "r.(?)" "p.(Glu66Gln)" "" "" "0000509220" "00005030" "30" "192" "0" "192" "0" "c.192C>T" "r.(?)" "p.(Ser64=)" "" "" "0000509221" "00005030" "10" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47Gln)" "" "" "0000509222" "00005030" "30" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47Gln)" "" "" "0000509223" "00005030" "50" "73" "0" "73" "0" "c.73A>G" "r.(?)" "p.(Ser25Gly)" "" "" "0000509224" "00005030" "30" "63" "0" "63" "0" "c.63T>C" "r.(?)" "p.(Asn21=)" "" "" "0000509225" "00005030" "50" "61" "0" "63" "0" "c.61_63delinsCAC" "r.(?)" "p.(Asn21His)" "" "" "0000509227" "00005030" "10" "61" "0" "61" "0" "c.61A>C" "r.(?)" "p.(Asn21His)" "" "" "0000509228" "00005030" "30" "24" "-25" "24" "-25" "c.24-25C>T" "r.(=)" "p.(=)" "" "" "0000509229" "00005030" "30" "24" "-62" "24" "-62" "c.24-62G>A" "r.(=)" "p.(=)" "" "" "0000509230" "00005030" "50" "23" "6" "23" "6" "c.23+6G>C" "r.(=)" "p.(=)" "" "" "0000606095" "00005030" "30" "61" "0" "61" "0" "c.61A>C" "r.(?)" "p.(Asn21His)" "" "" "0000620728" "00005030" "50" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Gly33Ser)" "" "" "0000676012" "00005030" "10" "484" "0" "484" "0" "c.484T>C" "r.(?)" "p.(Phe162Leu)" "" "" "0000688316" "00005030" "50" "640" "0" "640" "0" "c.640T>C" "r.(?)" "p.(Cys214Arg)" "" "" "0000717837" "00005030" "50" "141" "0" "150" "0" "c.141_150del" "r.(?)" "p.(Gln48Serfs*11)" "" "" "0000974282" "00005030" "30" "606" "0" "606" "0" "c.606G>C" "r.(?)" "p.(Leu202=)" "" "" "0001024231" "00005030" "50" "522" "0" "522" "0" "c.522del" "r.(?)" "p.(Ala175ArgfsTer56)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0