### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GDF6)
# 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}}"
"GDF6" "growth differentiation factor 6" "8" "q22.1" "unknown" "NG_008981.1" "UD_132085343536" "" "https://www.LOVD.nl/GDF6" "" "1" "4221" "392255" "601147" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GDF6_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-01-28 13:53:20" "00000" "2025-07-08 13:22:38"
## 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}}"
"00008434" "GDF6" "growth differentiation factor 6" "001" "NM_001001557.2" "" "NP_001001557.1" "" "" "" "-100" "3601" "1368" "97173020" "97154558" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{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"
"00356" "MCOP" "microphthalmia (MCOP)" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2015-12-07 07:11:25"
"01244" "KFS1" "Klippel-Feil syndrome, type 1, autosomal dominant (KFS1)" "AD" "118100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03250" "MCOP4" "microphthalmia, isolated, type 4 (MCOP4)" "" "613094" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-28 13:50:35"
"03397" "MCOPCB6" "microphthalmia, isolated, with coloboma, type 6 (MCOPCB6)" "AD;DD" "613703" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-28 13:49:58"
"03908" "LCA17" "Leber congenital amaurosis, type 17 (LCA17)" "AR" "615360" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-28 13:48:52"
"04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" ""
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" ""
"05430" "MCOPCB" "microphthalmia, isolated, with coloboma (MCOPCB)" "" "" "" "" "" "00006" "2018-05-23 11:14:23" "" ""
"05892" "SYNS" "synostoses, multiple syndrome (SYNS)" "" "" "" "" "" "00006" "2021-01-28 13:51:24" "00006" "2021-12-10 21:51:32"
"05893" "SYNS4" "synostoses, multiple syndrome, type 4 (SYNS4)" "AD" "617898" "" "" "" "00006" "2021-01-28 13:52:10" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 9
"{{geneid}}" "{{diseaseid}}"
"GDF6" "00356"
"GDF6" "01244"
"GDF6" "03250"
"GDF6" "03397"
"GDF6" "03908"
"GDF6" "04210"
"GDF6" "05430"
"GDF6" "05892"
"GDF6" "05893"
## Individuals ## Do not remove or alter this header ##
## Count = 18
"{{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}}"
"00314702" "" "" "" "1" "" "00006" "{PMID:Slavotinek 2015:25457163}" "" "M" "" "United States" "" "0" "" "" "white" ""
"00332231" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB301"
"00335191" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "2615"
"00363784" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "F" "" "China" "" "0" "" "" "" "G539"
"00363785" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "F" "" "China" "" "0" "" "" "" "G479"
"00363786" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "F" "" "China" "" "0" "" "" "" "G629"
"00377808" "" "" "" "1" "" "00000" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "" "" "Mexico" "" "0" "" "" "Mexican-mestizo" ""
"00377811" "" "" "" "1" "" "00000" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "" "" "Mexico" "" "0" "" "" "Mexican-mestizo" ""
"00377812" "" "" "" "1" "" "00000" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "" "" "Mexico" "" "0" "" "" "Mexican-mestizo" ""
"00377814" "" "" "" "1" "" "00000" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "" "" "Mexico" "" "0" "" "" "Mexican-mestizo" ""
"00382091" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "208"
"00386170" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-125, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-282"
"00386201" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-320"
"00386280" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-71, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-188"
"00407687" "" "" "" "1" "" "00000" "{PMID:Asai-Coakwell 2013:23307924}" "pedigree I" "F" "" "Canada" "" "0" "" "" "" "I-II:1"
"00407688" "" "" "" "1" "" "00000" "{PMID:Asai-Coakwell 2013:23307924}" "pedigree II" "F" "" "Canada" "" "0" "" "" "" "II-II:1"
"00407689" "" "" "" "1" "" "00000" "{PMID:Asai-Coakwell 2013:23307924}" "pedigree III" "F" "" "Canada" "" "0" "" "" "" "III-II:1"
"00407690" "" "" "" "1" "" "00000" "{PMID:Asai-Coakwell 2013:23307924}" "pedigree IV" "F" "" "Canada" "" "0" "" "" "" "IV-II:1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 18
"{{individualid}}" "{{diseaseid}}"
"00314702" "00198"
"00332231" "04214"
"00335191" "00198"
"00363784" "04267"
"00363785" "04267"
"00363786" "04267"
"00377808" "04214"
"00377811" "04214"
"00377812" "04214"
"00377814" "04214"
"00382091" "01244"
"00386170" "04214"
"00386201" "04214"
"00386280" "04214"
"00407687" "04214"
"00407688" "04214"
"00407689" "04214"
"00407690" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00356, 01244, 03250, 03397, 03908, 04210, 04214, 04267, 05430, 05892, 05893
## Count = 18
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000238504" "00198" "00314702" "00006" "Isolated (sporadic)" "" "bilateral anophthalmia" "" "" "" "" "" "" "" "" "" "developmental eye defects" ""
"0000250418" "04214" "00332231" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000252906" "00198" "00335191" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cataract, myopia" ""
"0000259131" "04267" "00363784" "00000" "Unknown" "49y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" ""
"0000259132" "04267" "00363785" "00000" "Unknown" "30y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" ""
"0000259133" "04267" "00363786" "00000" "Unknown" "53y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" ""
"0000272954" "04214" "00377808" "00000" "Familial" "" "Microphthalmia OD Septum pellucidum agenesis,cortical atrophy optic nerve atrophy OS" "" "" "" "" "" "" "" "" "" "microphthalmia anophthalmia coloboma (MAC)" ""
"0000272957" "04214" "00377811" "00000" "Familial" "" "Bilateral microphthalmia Cleft lip and palate" "" "" "" "" "" "" "" "" "" "microphthalmia anophthalmia coloboma (MAC)" ""
"0000272958" "04214" "00377812" "00000" "Familial" "" "Bilateral anophthalmia None" "" "" "" "" "" "" "" "" "" "microphthalmia anophthalmia coloboma (MAC)" ""
"0000272960" "04214" "00377814" "00000" "Familial" "" "Bilateral nanophthalmia None" "" "" "" "" "" "" "" "" "" "microphthalmia anophthalmia coloboma (MAC)" ""
"0000275933" "01244" "00382091" "00000" "Familial, autosomal dominant" "" "microphthalmia, anophthalmia, and coloboma; MIM, 118100" "" "" "" "" "" "" "" "" "" "MIM, 118100" ""
"0000279973" "04214" "00386170" "00000" "Familial, autosomal dominant" "33y" "" "" "33y" "" "" "" "" "" "" "cone-rod dystrophy" "Best macular dystrophy" ""
"0000280004" "04214" "00386201" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000280083" "04214" "00386280" "00000" "Familial, autosomal recessive" "48y" "" "" "5y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" ""
"0000299834" "04214" "00407687" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity: hand motions, extinguished electroretinogram, no systemic phenotypes; radiological imaging necessary to detect milder GDF6-induced skeletal disease: negative" "" "" "" "luciferase reporter analysis demonstrates significantly decreased transactivation by transfected variants" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000299835" "04214" "00407688" "00000" "Familial, autosomal recessive" "" "" "" "" "" "luciferase reporter analysis demonstrates significantly decreased (69% decrease) transactivation by transfected variants" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000299836" "04214" "00407689" "00000" "Familial, autosomal recessive" "" "" "" "" "" "luciferase reporter analysis demonstrates significantly decreased transactivation by transfected variants (56% decrease)" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000299837" "04214" "00407690" "00000" "Familial, autosomal recessive" "" "" "" "" "" "luciferase reporter analysis demonstrates significantly decreased transactivation by transfected variants" "" "" "" "" "Leber congenital amaurosis" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 18
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000315875" "00314702" "1" "00006" "00006" "2020-10-14 10:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000333451" "00332231" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000336420" "00335191" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000365012" "00363784" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000365013" "00363785" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000365014" "00363786" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000379012" "00377808" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "Blood" ""
"0000379015" "00377811" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "Blood" ""
"0000379016" "00377812" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "Blood" ""
"0000379018" "00377814" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "Blood" ""
"0000383307" "00382091" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000387399" "00386170" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387430" "00386201" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387509" "00386280" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000408939" "00407687" "1" "00000" "03840" "2022-04-07 18:49:55" "" "" "SEQ" "DNA" "blood" ""
"0000408940" "00407688" "1" "00000" "03840" "2022-04-07 18:49:55" "" "" "SEQ" "DNA" "blood" ""
"0000408941" "00407689" "1" "00000" "03840" "2022-04-07 18:49:55" "" "" "SEQ" "DNA" "blood" ""
"0000408942" "00407690" "1" "00000" "03840" "2022-04-07 18:49:55" "" "" "SEQ" "DNA" "blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 18
"{{screeningid}}" "{{geneid}}"
"0000315875" "GDF6"
"0000336420" "GDF6"
"0000336420" "VSX2"
"0000365012" "GDF6"
"0000365013" "GDF6"
"0000365014" "GDF6"
"0000379012" "GDF6"
"0000379015" "GDF6"
"0000379016" "GDF6"
"0000379018" "GDF6"
"0000383307" "GDF6"
"0000387399" "GUCY2D"
"0000387430" "ABCA4"
"0000387509" "RDH12"
"0000408939" "GDF6"
"0000408940" "GDF6"
"0000408941" "GDF6"
"0000408942" "GDF6"
## 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 = 65
"{{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}}"
"0000277058" "0" "10" "8" "97157151" "97157151" "subst" "5.16641E-5" "02330" "GDF6_000004" "g.97157151C>T" "" "" "" "GDF6(NM_001001557.4):c.1008G>A (p.T336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96144923C>T" "" "benign" ""
"0000277059" "0" "30" "8" "97172809" "97172809" "subst" "0.00050729" "02330" "GDF6_000010" "g.97172809C>G" "" "" "" "GDF6(NM_001001557.3):c.112G>C (p.G38R), GDF6(NM_001001557.4):c.112G>C (p.G38R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96160581C>G" "" "likely benign" ""
"0000277060" "0" "30" "8" "97156855" "97156855" "subst" "0.000167073" "02330" "GDF6_000002" "g.97156855G>A" "" "" "" "GDF6(NM_001001557.4):c.1304C>T (p.A435V, p.(Ala435Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96144627G>A" "" "likely benign" ""
"0000277061" "0" "10" "8" "97157289" "97157289" "subst" "0" "02330" "GDF6_000006" "g.97157289G>A" "" "" "" "GDF6(NM_001001557.4):c.870C>T (p.F290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96145061G>A" "" "benign" ""
"0000288283" "0" "90" "8" "97156872" "97156872" "subst" "0" "01943" "GDF6_000003" "g.97156872G>T" "" "" "" "GDF6(NM_001001557.3):c.1287C>A (p.S429R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96144644G>T" "" "pathogenic" ""
"0000288284" "0" "30" "8" "97172897" "97172897" "subst" "0.000228532" "01943" "GDF6_000012" "g.97172897G>C" "" "" "" "GDF6(NM_001001557.3):c.24C>G (p.L8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96160669G>C" "" "likely benign" ""
"0000288285" "0" "10" "8" "97172666" "97172666" "subst" "0.00135485" "01943" "GDF6_000008" "g.97172666C>A" "" "" "" "GDF6(NM_001001557.3):c.255G>T (p.P85=), GDF6(NM_001001557.4):c.255G>T (p.P85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96160438C>A" "" "benign" ""
"0000288286" "0" "10" "8" "97172487" "97172487" "subst" "0.062372" "01943" "GDF6_000007" "g.97172487G>T" "" "" "" "GDF6(NM_001001557.3):c.406+28C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96160259G>T" "" "benign" ""
"0000288287" "0" "30" "8" "97157223" "97157223" "subst" "0.0334019" "01943" "GDF6_000005" "g.97157223C>G" "" "" "" "GDF6(NM_001001557.3):c.936G>C (p.S312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96144995C>G" "" "likely benign" ""
"0000332210" "0" "50" "8" "97156837" "97156837" "subst" "2.85376E-5" "01804" "GDF6_000001" "g.97156837T>C" "" "" "" "GDF6(NM_001001557.2):c.1322A>G (p.(Tyr441Cys)), GDF6(NM_001001557.4):c.1322A>G (p.Y441C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96144609T>C" "" "VUS" ""
"0000341253" "0" "50" "8" "97157564" "97157564" "subst" "5.11831E-5" "02327" "GDF6_000013" "g.97157564C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96145336C>T" "" "VUS" ""
"0000535515" "0" "30" "8" "97156891" "97156891" "subst" "0" "02327" "GDF6_000014" "g.97156891G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96144663G>A" "" "likely benign" ""
"0000535519" "0" "30" "8" "97157499" "97157499" "subst" "0" "01943" "GDF6_000016" "g.97157499G>T" "" "" "" "GDF6(NM_001001557.3):c.660C>A (p.G220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96145271G>T" "" "likely benign" ""
"0000535520" "0" "50" "8" "97157512" "97157512" "subst" "0" "02327" "GDF6_000017" "g.97157512T>C" "" "" "" "GDF6(NM_001001557.2):c.647A>G (p.(Asp216Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96145284T>C" "" "VUS" ""
"0000535521" "0" "30" "8" "97157534" "97157534" "subst" "8.02349E-6" "01804" "GDF6_000018" "g.97157534G>A" "" "" "" "GDF6(NM_001001557.2):c.625C>T (p.(Pro209Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96145306G>A" "" "likely benign" ""
"0000535522" "0" "30" "8" "97157676" "97157676" "subst" "9.75056E-5" "01943" "GDF6_000019" "g.97157676C>A" "" "" "" "GDF6(NM_001001557.3):c.483G>T (p.L161=), GDF6(NM_001001557.4):c.483G>T (p.L161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96145448C>A" "" "likely benign" ""
"0000535523" "0" "10" "8" "97157691" "97157691" "subst" "4.38985E-6" "02330" "GDF6_000020" "g.97157691T>C" "" "" "" "GDF6(NM_001001557.4):c.468A>G (p.S156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96145463T>C" "" "benign" ""
"0000535525" "0" "10" "8" "97172666" "97172666" "subst" "0.00135485" "02330" "GDF6_000008" "g.97172666C>A" "" "" "" "GDF6(NM_001001557.3):c.255G>T (p.P85=), GDF6(NM_001001557.4):c.255G>T (p.P85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96160438C>A" "" "benign" ""
"0000535526" "0" "30" "8" "97172809" "97172809" "subst" "0.00050729" "01943" "GDF6_000010" "g.97172809C>G" "" "" "" "GDF6(NM_001001557.3):c.112G>C (p.G38R), GDF6(NM_001001557.4):c.112G>C (p.G38R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96160581C>G" "" "likely benign" ""
"0000535527" "0" "30" "8" "97172811" "97172811" "subst" "0" "01943" "GDF6_000022" "g.97172811A>C" "" "" "" "GDF6(NM_001001557.3):c.110T>G (p.L37R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96160583A>C" "" "likely benign" ""
"0000611727" "0" "30" "8" "97157307" "97157307" "subst" "0.000609888" "02330" "GDF6_000023" "g.97157307G>C" "" "" "" "GDF6(NM_001001557.4):c.852C>G (p.S284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96145079G>C" "" "likely benign" ""
"0000611728" "0" "10" "8" "97157676" "97157676" "subst" "9.75056E-5" "02330" "GDF6_000019" "g.97157676C>A" "" "" "" "GDF6(NM_001001557.3):c.483G>T (p.L161=), GDF6(NM_001001557.4):c.483G>T (p.L161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96145448C>A" "" "benign" ""
"0000611729" "0" "30" "8" "97157739" "97157739" "subst" "4.37897E-6" "01943" "GDF6_000024" "g.97157739G>A" "" "" "" "GDF6(NM_001001557.3):c.420C>T (p.H140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96145511G>A" "" "likely benign" ""
"0000678457" "0" "50" "8" "97157543" "97157543" "subst" "0" "01943" "GDF6_000025" "g.97157543C>T" "" "" "" "GDF6(NM_001001557.3):c.616G>A (p.G206R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000697977" "0" "90" "8" "97157413" "97157413" "subst" "0.00193111" "00006" "GDF6_000015" "g.97157413G>T" "" "{PMID:Slavotinek 2015:25457163}" "" "" "" "De novo" "" "" "0" "" "" "g.96145185G>T" "" "pathogenic (dominant)" ""
"0000722119" "0" "50" "8" "97157656" "97157657" "del" "0" "02327" "GDF6_000026" "g.97157656_97157657del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000731049" "0" "50" "8" "97157413" "97157413" "subst" "0.00193111" "00000" "GDF6_000015" "g.97157413G>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs121909352" "0" "" "" "g.96145185G>T" "" "VUS" ""
"0000735792" "0" "50" "8" "97157564" "97157564" "subst" "5.11831E-5" "00000" "GDF6_000013" "g.97157564C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.96145336C>T" "" "VUS" ""
"0000765962" "0" "70" "8" "97156871" "97156871" "subst" "0" "00000" "GDF6_000027" "g.97156871T>C" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.96144643T>C" "" "likely pathogenic" ""
"0000765963" "0" "70" "8" "97156888" "97156888" "subst" "0.000191267" "00000" "GDF6_000028" "g.97156888T>C" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.96144660T>C" "" "likely pathogenic" ""
"0000765964" "0" "70" "8" "97172785" "97172785" "subst" "1.23336E-5" "00000" "GDF6_000029" "g.97172785G>A" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.96160557G>A" "" "likely pathogenic" ""
"0000792032" "0" "70" "8" "97157699" "97157699" "subst" "6.57445E-5" "00000" "GDF6_000030" "g.97157699T>G" "" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "c.460A>c" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000792035" "0" "90" "8" "97157413" "97157413" "subst" "0.00193111" "00000" "GDF6_000015" "g.97157413G>T" "not in 400 controls" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "c.746c>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792036" "0" "90" "8" "97157413" "97157413" "subst" "0.00193111" "00000" "GDF6_000015" "g.97157413G>T" "" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "c.746c>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792038" "0" "90" "8" "97157413" "97157413" "subst" "0.00193111" "00000" "GDF6_000015" "g.97157413G>T" "not in 400 controls" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "c.746c>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000797368" "0" "70" "8" "97157413" "97157413" "subst" "0.00193111" "00000" "GDF6_000015" "g.97157413G>T" "" "{PMID:Patel 2019:30653986}" "" "c.746C-->A; p.Ala249Glu" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.96145185G>T" "" "likely pathogenic" ""
"0000803770" "0" "50" "8" "97156837" "97156837" "subst" "2.85376E-5" "02325" "GDF6_000001" "g.97156837T>C" "" "" "" "GDF6(NM_001001557.2):c.1322A>G (p.(Tyr441Cys)), GDF6(NM_001001557.4):c.1322A>G (p.Y441C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803771" "0" "30" "8" "97157394" "97157394" "subst" "0" "02330" "GDF6_000031" "g.97157394C>A" "" "" "" "GDF6(NM_001001557.4):c.765G>T (p.P255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803772" "0" "50" "8" "97157705" "97157705" "subst" "4.3807E-6" "02325" "GDF6_000032" "g.97157705C>T" "" "" "" "GDF6(NM_001001557.4):c.454G>A (p.V152M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803773" "0" "50" "8" "97172673" "97172673" "subst" "0" "01943" "GDF6_000033" "g.97172673T>A" "" "" "" "GDF6(NM_001001557.3):c.248A>T (p.Q83L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000815424" "0" "50" "8" "97157137" "97157137" "subst" "1.27101E-5" "00000" "GDF6_000034" "g.97157137C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "GDF6:NM_001001557 c.G1022A, p.R341H" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.96144909C>T" "" "VUS" "ACMG"
"0000815545" "0" "70" "8" "97157413" "97157413" "subst" "0.00193111" "00000" "GDF6_000015" "g.97157413G>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "GDF6:NM_001001557 c.C746A, p.A249E" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.96145185G>T" "" "likely pathogenic" "ACMG"
"0000815597" "0" "50" "8" "97156855" "97156855" "subst" "0.000167073" "00000" "GDF6_000002" "g.97156855G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "GDF6:NM_001001557 c.C1304T, p.A435V" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.96144627G>A" "" "VUS" "ACMG"
"0000845960" "0" "70" "8" "97172752" "97172752" "subst" "6.62712E-5" "00000" "GDF6_000036" "g.97172752C>G" "" "{PMID:Asai-Coakwell 2013:23307924}" "" "GDF6 c.169G>C, p.D57H" "heterozygous" "Germline" "yes" "" "0" "" "" "g.96160524C>G" "" "likely pathogenic" ""
"0000845961" "0" "70" "8" "97157413" "97157413" "subst" "0.00193111" "00000" "GDF6_000015" "g.97157413G>T" "" "{PMID:Asai-Coakwell 2013:23307924}" "" "GDF6 c.746A>C, p.A249E" "error in annotation, should be c.746C>A and not c.746A>C; heterozygous" "Germline" "yes" "" "0" "" "" "g.96145185G>T" "" "likely pathogenic" ""
"0000845962" "0" "70" "8" "97157283" "97157283" "subst" "0" "00000" "GDF6_000035" "g.97157283C>G" "" "{PMID:Asai-Coakwell 2013:23307924}" "" "GDF6 c.876G>A, p.E292D" "error in annotation, should be c.876G>C and not c.876G>A; heterozygous" "Germline" "yes" "" "0" "" "" "g.96145055C>G" "" "likely pathogenic" ""
"0000845963" "0" "70" "8" "97157564" "97157564" "subst" "5.11831E-5" "00000" "GDF6_000013" "g.97157564C>T" "" "{PMID:Asai-Coakwell 2013:23307924}" "" "GDF6 c.595G>A, p.A199T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.96145336C>T" "" "likely pathogenic" ""
"0000845964" "0" "70" "8" "97157413" "97157413" "subst" "0.00193111" "00000" "GDF6_000015" "g.97157413G>T" "" "{PMID:Asai-Coakwell 2013:23307924}" "" "GDF6 c.746A>C, p.A249E" "error in annotation, should be c.746C>A and not c.746A>C; heterozygous" "Germline" "yes" "" "0" "" "" "g.96145185G>T" "" "likely pathogenic" ""
"0000852024" "0" "30" "8" "97156989" "97156989" "subst" "0" "01943" "GDF6_000037" "g.97156989C>T" "" "" "" "GDF6(NM_001001557.3):c.1170G>A (p.P390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861306" "0" "50" "8" "97157615" "97157615" "subst" "4.38299E-5" "01943" "GDF6_000038" "g.97157615C>G" "" "" "" "GDF6(NM_001001557.3):c.544G>C (p.G182R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000888483" "0" "50" "8" "97157512" "97157512" "subst" "0" "01804" "GDF6_000017" "g.97157512T>C" "" "" "" "GDF6(NM_001001557.2):c.647A>G (p.(Asp216Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000912996" "0" "30" "8" "97172565" "97172565" "subst" "0.00142965" "01804" "GDF6_000039" "g.97172565T>C" "" "" "" "GDF6(NM_001001557.2):c.356A>G (p.(Gln119Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000965080" "0" "50" "8" "97157524" "97157524" "subst" "0" "02327" "GDF6_000040" "g.97157524C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978303" "0" "50" "8" "97157359" "97157359" "subst" "0" "01804" "GDF6_000041" "g.97157359C>A" "" "" "" "GDF6(NM_001001557.4):c.800G>T (p.(Arg267Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978304" "0" "30" "8" "97157758" "97157758" "subst" "0" "01804" "GDF6_000042" "g.97157758A>G" "" "" "" "GDF6(NM_001001557.4):c.407-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000997361" "0" "70" "8" "97156880" "97156880" "subst" "0" "01804" "GDF6_000043" "g.97156880G>A" "" "" "" "GDF6(NM_001001557.2):c.1279C>T (p.(Pro427Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000997362" "0" "30" "8" "97157120" "97157120" "subst" "0" "01804" "GDF6_000044" "g.97157120C>T" "" "" "" "GDF6(NM_001001557.2):c.1039G>A (p.(Gly347Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000997363" "0" "30" "8" "97157179" "97157179" "subst" "0.000533322" "01804" "GDF6_000045" "g.97157179G>T" "" "" "" "GDF6(NM_001001557.2):c.980C>A (p.(Pro327His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000997364" "0" "50" "8" "97157258" "97157258" "subst" "0" "01804" "GDF6_000046" "g.97157258C>T" "" "" "" "GDF6(NM_001001557.2):c.901G>A (p.(Glu301Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000997365" "0" "30" "8" "97172709" "97172709" "subst" "0" "01804" "GDF6_000047" "g.97172709G>A" "" "" "" "GDF6(NM_001001557.2):c.212C>T (p.(Pro71Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001037091" "0" "50" "8" "97156516" "97156519" "dup" "0" "01804" "GDF6_000048" "g.97156516_97156519dup" "" "" "" "GDF6(NM_001001557.4):c.*315_*318dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001037092" "0" "50" "8" "97156518" "97156519" "del" "0" "01804" "GDF6_000049" "g.97156518_97156519del" "" "" "" "GDF6(NM_001001557.4):c.*317_*318del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001037093" "0" "30" "8" "97156855" "97156855" "subst" "0.000167073" "01804" "GDF6_000002" "g.97156855G>A" "" "" "" "GDF6(NM_001001557.4):c.1304C>T (p.A435V, p.(Ala435Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001037094" "0" "30" "8" "97172796" "97172796" "subst" "0.000213276" "01804" "GDF6_000050" "g.97172796C>A" "" "" "" "GDF6(NM_001001557.4):c.125G>T (p.(Gly42Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001046169" "0" "50" "8" "97157344" "97157344" "subst" "0.000108117" "02325" "GDF6_000051" "g.97157344G>A" "" "" "" "GDF6(NM_001001557.4):c.815C>T (p.P272L)" "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 GDF6
## Count = 65
"{{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}}"
"0000277058" "00008434" "10" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Thr336=)" ""
"0000277059" "00008434" "30" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Gly38Arg)" ""
"0000277060" "00008434" "30" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.(Ala435Val)" ""
"0000277061" "00008434" "10" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Phe290=)" ""
"0000288283" "00008434" "90" "1287" "0" "1287" "0" "c.1287C>A" "r.(?)" "p.(Ser429Arg)" ""
"0000288284" "00008434" "30" "24" "0" "24" "0" "c.24C>G" "r.(?)" "p.(Leu8=)" ""
"0000288285" "00008434" "10" "255" "0" "255" "0" "c.255G>T" "r.(?)" "p.(Pro85=)" ""
"0000288286" "00008434" "10" "406" "28" "406" "28" "c.406+28C>A" "r.(=)" "p.(=)" ""
"0000288287" "00008434" "30" "936" "0" "936" "0" "c.936G>C" "r.(?)" "p.(Ser312=)" ""
"0000332210" "00008434" "50" "1322" "0" "1322" "0" "c.1322A>G" "r.(?)" "p.(Tyr441Cys)" ""
"0000341253" "00008434" "50" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Ala199Thr)" ""
"0000535515" "00008434" "30" "1268" "0" "1268" "0" "c.1268C>T" "r.(?)" "p.(Thr423Ile)" ""
"0000535519" "00008434" "30" "660" "0" "660" "0" "c.660C>A" "r.(?)" "p.(Gly220=)" ""
"0000535520" "00008434" "50" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Asp216Gly)" ""
"0000535521" "00008434" "30" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Pro209Ser)" ""
"0000535522" "00008434" "30" "483" "0" "483" "0" "c.483G>T" "r.(?)" "p.(Leu161=)" ""
"0000535523" "00008434" "10" "468" "0" "468" "0" "c.468A>G" "r.(?)" "p.(Ser156=)" ""
"0000535525" "00008434" "10" "255" "0" "255" "0" "c.255G>T" "r.(?)" "p.(Pro85=)" ""
"0000535526" "00008434" "30" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Gly38Arg)" ""
"0000535527" "00008434" "30" "110" "0" "110" "0" "c.110T>G" "r.(?)" "p.(Leu37Arg)" ""
"0000611727" "00008434" "30" "852" "0" "852" "0" "c.852C>G" "r.(?)" "p.(Ser284=)" ""
"0000611728" "00008434" "10" "483" "0" "483" "0" "c.483G>T" "r.(?)" "p.(Leu161=)" ""
"0000611729" "00008434" "30" "420" "0" "420" "0" "c.420C>T" "r.(?)" "p.(His140=)" ""
"0000678457" "00008434" "50" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Gly206Arg)" ""
"0000697977" "00008434" "90" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Ala249Glu)" ""
"0000722119" "00008434" "50" "504" "0" "505" "0" "c.504_505del" "r.(?)" "p.(Phe169Serfs*269)" ""
"0000731049" "00008434" "50" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Ala249Glu)" ""
"0000735792" "00008434" "50" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Ala199Thr)" ""
"0000765962" "00008434" "70" "1288" "0" "1288" "0" "c.1288A>G" "r.(?)" "p.(Ile430Val)" ""
"0000765963" "00008434" "70" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Lys424Arg)" ""
"0000765964" "00008434" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Cys)" ""
"0000792032" "00008434" "70" "460" "0" "460" "0" "c.460A>C" "r.(?)" "p.(Met154Leu)" "2"
"0000792035" "00008434" "90" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Ala249Glu)" "2"
"0000792036" "00008434" "90" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Ala249Glu)" "2"
"0000792038" "00008434" "90" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Ala249Glu)" "2"
"0000797368" "00008434" "70" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Ala249Glu)" ""
"0000803770" "00008434" "50" "1322" "0" "1322" "0" "c.1322A>G" "r.(?)" "p.(Tyr441Cys)" ""
"0000803771" "00008434" "30" "765" "0" "765" "0" "c.765G>T" "r.(?)" "p.(Pro255=)" ""
"0000803772" "00008434" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Val152Met)" ""
"0000803773" "00008434" "50" "248" "0" "248" "0" "c.248A>T" "r.(?)" "p.(Gln83Leu)" ""
"0000815424" "00008434" "50" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Arg341His)" ""
"0000815545" "00008434" "70" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Ala249Glu)" ""
"0000815597" "00008434" "50" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.(Ala435Val)" ""
"0000845960" "00008434" "70" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.(Asp57His)" ""
"0000845961" "00008434" "70" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Ala249Glu)" ""
"0000845962" "00008434" "70" "876" "0" "876" "0" "c.876G>C" "r.(?)" "p.(Glu292Asp)" ""
"0000845963" "00008434" "70" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Ala199Thr)" ""
"0000845964" "00008434" "70" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Ala249Glu)" ""
"0000852024" "00008434" "30" "1170" "0" "1170" "0" "c.1170G>A" "r.(?)" "p.(Pro390=)" ""
"0000861306" "00008434" "50" "544" "0" "544" "0" "c.544G>C" "r.(?)" "p.(Gly182Arg)" ""
"0000888483" "00008434" "50" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Asp216Gly)" ""
"0000912996" "00008434" "30" "356" "0" "356" "0" "c.356A>G" "r.(?)" "p.(Gln119Arg)" ""
"0000965080" "00008434" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Trp212*)" ""
"0000978303" "00008434" "50" "800" "0" "800" "0" "c.800G>T" "r.(?)" "p.(Arg267Leu)" ""
"0000978304" "00008434" "30" "407" "-6" "407" "-6" "c.407-6T>C" "r.(=)" "p.(=)" ""
"0000997361" "00008434" "70" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Pro427Ser)" ""
"0000997362" "00008434" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Gly347Ser)" ""
"0000997363" "00008434" "30" "980" "0" "980" "0" "c.980C>A" "r.(?)" "p.(Pro327His)" ""
"0000997364" "00008434" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Glu301Lys)" ""
"0000997365" "00008434" "30" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Pro71Leu)" ""
"0001037091" "00008434" "50" "1683" "0" "1686" "0" "c.*315_*318dup" "r.(=)" "p.(=)" ""
"0001037092" "00008434" "50" "1685" "0" "1686" "0" "c.*317_*318del" "r.(=)" "p.(=)" ""
"0001037093" "00008434" "30" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.(Ala435Val)" ""
"0001037094" "00008434" "30" "125" "0" "125" "0" "c.125G>T" "r.(?)" "p.(Gly42Val)" ""
"0001046169" "00008434" "50" "815" "0" "815" "0" "c.815C>T" "r.(?)" "p.(Pro272Leu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 19
"{{screeningid}}" "{{variantid}}"
"0000315875" "0000697977"
"0000333451" "0000731049"
"0000336420" "0000735792"
"0000365012" "0000765962"
"0000365013" "0000765963"
"0000365014" "0000765964"
"0000379012" "0000792032"
"0000379015" "0000792035"
"0000379016" "0000792036"
"0000379018" "0000792038"
"0000383307" "0000797368"
"0000387399" "0000815424"
"0000387430" "0000815597"
"0000387509" "0000815545"
"0000408939" "0000845960"
"0000408939" "0000845961"
"0000408940" "0000845962"
"0000408941" "0000845963"
"0000408942" "0000845964"