### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DDHD2) # 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}}" "DDHD2" "DDHD domain containing 2" "8" "p11.23" "unknown" "NC_000008.10" "UD_136086526093" "" "http://www.LOVD.nl/DDHD2" "" "1" "29106" "23259" "615003" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/DDHD2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-05-27 09:27:19" "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}}" "00024171" "DDHD2" "transcript variant 1" "005" "NM_015214.2" "" "NP_056029.2" "" "" "" "-377" "4332" "2136" "38089009" "38120287" "00006" "2016-09-26 09:07:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "01934" "MPS3B" "mucopolysaccharidosis, type IIIB (MPS-3B)" "AR" "252920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03814" "SPG54" "paraplegia, spastic, type 54, autosomal recessive (SPG-54)" "AR" "615033" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "DDHD2" "00139" "DDHD2" "00325" "DDHD2" "03814" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00050711" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050712" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00081213" "" "" "" "1" "" "01772" "" "4-generation family, 3 affecteds (2F, m), unaffected heterozygous carrier parents, patient WMD-1675-3-3" "M" "yes" "" "" "0" "" "" "" "" "00095118" "" "" "" "1" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "sister of WMD-1675-3-4" "F" "yes" "" "" "0" "added by student Iris van Schaik" "" "" "" "00095119" "" "" "" "4" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "5-generation family, 4 affecteds (4F), unaffected heterozygous carrier parents, patient 1314-I-V-1" "F" "yes" "" "" "0" "added by student Iris van Schaik" "" "" "" "00164642" "" "" "" "2" "" "00006" "{PMID:Schuurs-Hoeijmakers 2013:24123876}" "2-generation family, affected sister/brother, unaffected carrier parents" "F;M" "no" "Netherlands" "" "0" "" "" "" "24123876-FamW10-1338" "00225673" "" "" "" "1" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}, {PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "13DG0583" "00276321" "" "" "" "2" "" "03568" "" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00307940" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "simplex case" "M" "" "" "" "0" "" "" "" "16DG0325" "00361621" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "14DG0478" "00404103" "" "" "" "1" "" "00435" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00442604" "" "" "" "2" "" "03312" "" "2 patients" "" "yes" "Pakistan" "" "0" "" "" "" "ANMD03" "00453032" "" "" "" "1" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, 1 affected, heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam9" "00455822" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat62" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00050711" "00198" "00050712" "00198" "00081213" "03814" "00095118" "03814" "00095119" "03814" "00164642" "00139" "00225673" "00198" "00276321" "01934" "00276321" "03814" "00307940" "00139" "00361621" "00139" "00404103" "03814" "00442604" "03814" "00453032" "05611" "00455822" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00325, 01934, 03814, 05611 ## Count = 14 "{{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}}" "0000037323" "00198" "00050711" "00006" "Unknown" "" "specific learning disability, delayed speech and language development, delayed speech and language development, upper motor neuron abnormality, strabismus, bilateral conductive hearing impairment, dysdiadochokinesis" "" "" "" "" "" "" "" "" "" "" "" "0000037324" "00198" "00050712" "00006" "Unknown" "" "upper motor neuron abnormality, delayed speech and language development, delayed speech and language development, specific learning disability, strabismus, dysdiadochokinesis" "" "" "" "" "" "" "" "" "" "" "" "0000060709" "03814" "00081213" "01772" "Familial, autosomal recessive" "11y" "Strabismus (HP:0000486)\r\nSpasticity (HP:0001257)\r\nDysarthria (HP:0001260)\r\nAbnormality of the cerebellum (HP:0001317)\r\nAstigmatism (HP:0000483)\r\nUrinary bladder sphincter dysfunction (HP:0002839)\r\nPeriventricular leukomalacia (HP:0006970)\r\nIntellectual disability, moderate (HP:0002342)" "00y06m" "" "" "" "" "" "" "" "" "" "" "0000073513" "03814" "00095118" "00006" "Familial, autosomal recessive" "" "Signs at onset: tip-toe walking, Disability stage: can walk unsupported, Skeletal deformities: laterally deviated feet, Mild-moderate intellectual disability" "01y06m" "" "" "" "" "" "" "" "" "" "" "0000073514" "03814" "00095119" "00006" "Familial, autosomal recessive" "" "Spasticity (HP:0001257), Dysarthria (HP:0001260), Gait disturbance (HP:0001288), Abnormality of the cerebellum (HP:0001317), Strabismus (HP:0000486), Babinski sign (-HP:0003487), Impaired vibration sensation at ankles (HP:0006938), Urinary bladder sphincter dysfunction (HP:0002839), Periventricular leukomalacia (HP:0006970), Intellectual disability, moderate (HP:0002342)" "00y03m" "" "" "" "" "" "" "" "" "" "" "0000129679" "00139" "00164642" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000170779" "00198" "00225673" "00006" "Familial, autosomal recessive" "" "see paper; …, syndromic; global developmental delay, Joubert syndrome MRI findings, isolated cerebellar atrophy" "" "11y" "" "" "" "" "" "" "" "intellectual disability" "" "0000210911" "01934" "00276321" "03568" "Familial, autosomal recessive" "02y" "HP:0001250 \r\nHP:0006834 \r\nHP:0031358\r\nHP:0002240\r\nHP:0001263 \r\nHP:0001249 \r\nHP:0000007 \r\nHP:0003676" "00y06m" "" "" "" "" "" "" "" "MPS-3B" "MPS-3B" "" "0000210912" "03814" "00276321" "03568" "Familial, autosomal recessive" "02y" "HP:0001347\r\nHP:0001263\r\nHP:0001258\r\nHP:0001249\r\nHP:0000007\r\nHP:0007340\r\nHP:0003676" "" "" "" "" "" "" "" "" "" "" "" "0000233363" "00139" "00307940" "00006" "Familial, autosomal recessive" "2y3m" "see paper; ..., Global developmental delay, Neonatal hypotonia, Feeding Difficulties, Hypocortisolemia, Seizures; Hypertonia, Hyperreflexia, Hypothyroidism" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000257026" "00139" "00361621" "00006" "Familial, autosomal recessive" "8y" "not syndromic; intellectual disability, spastic paraplegia" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000296692" "03814" "00404103" "00435" "Familial, autosomal recessive" "" "26-y female with progressive weakness and spascticity of both lower limbs, slurred speech, pseudobulbar palsy, cognitive deterioration and bilateral pes cavus" "" "" "" "" "" "" "" "" "SPG54" "SCA, HSP" "" "0000341677" "05611" "00453032" "03566" "Familial, autosomal recessive" "" "delayed psychomotor development, delayed intellectual development, early onset rigidity lower limbs due to hypertonia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000344355" "00198" "00455822" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SPG54" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050656" "00050711" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050657" "00050712" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081325" "00081213" "1" "01772" "01772" "2016-09-22 13:08:14" "" "" "SEQ-NG" "DNA" "" "" "0000095516" "00095118" "1" "00006" "00006" "2016-09-28 13:27:18" "" "" "SEQ-NG" "DNA" "" "" "0000095517" "00095119" "1" "00006" "00006" "2016-09-28 16:26:32" "" "" "SEQ-NG" "DNA" "" "" "0000165506" "00164642" "1" "00006" "00006" "2018-06-02 18:42:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000226740" "00225673" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277468" "00276321" "1" "03568" "03568" "2020-01-30 14:18:48" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000309084" "00307940" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000362849" "00361621" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000405341" "00404103" "1" "00435" "00435" "2022-02-27 13:45:52" "" "" "SEQ" "DNA" "blood" "" "0000444088" "00442604" "1" "03312" "03312" "2023-11-22 06:48:37" "" "" "SEQ-NG-I" "DNA" "Blood" "Reconfirmed by Sanger sequencing" "0000454643" "00453032" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000457438" "00455822" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000050656" "DDHD2" "0000081325" "DDHD2" "0000095516" "DDHD2" "0000095517" "DDHD2" "0000165506" "DDHD2" "0000226740" "DDHD2" "0000309084" "DDHD2" "0000362849" "DDHD2" "0000405341" "DDHD2" "0000444088" "DDHD2" ## 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 = 62 "{{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}}" "0000079636" "11" "90" "8" "38111143" "38111143" "subst" "8.12203E-6" "00006" "DDHD2_000002" "g.38111143A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.38253625A>G" "" "pathogenic" "" "0000079637" "11" "90" "8" "38111143" "38111143" "subst" "8.12203E-6" "00006" "DDHD2_000002" "g.38111143A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.38253625A>G" "" "pathogenic" "" "0000079700" "21" "90" "8" "38111197" "38111197" "subst" "0" "00006" "DDHD2_000001" "g.38111197A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.38253679A>G" "" "pathogenic" "" "0000079701" "21" "90" "8" "38111197" "38111197" "subst" "0" "00006" "DDHD2_000001" "g.38111197A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.38253679A>G" "" "pathogenic" "" "0000130421" "3" "70" "8" "38103473" "38103473" "subst" "0" "01772" "DDHD2_000003" "g.38103473C>G" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38245955C>G" "" "likely pathogenic" "" "0000154085" "3" "70" "8" "38103473" "38103473" "subst" "0" "00006" "DDHD2_000003" "g.38103473C>G" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "" "" "Germline" "" "" "0" "" "" "g.38245955C>G" "" "likely pathogenic" "" "0000154086" "3" "90" "8" "38103270" "38103270" "subst" "4.0663E-6" "00006" "DDHD2_000004" "g.38103270C>T" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "" "" "Germline" "" "" "0" "" "" "g.38245752C>T" "" "pathogenic" "" "0000254528" "0" "30" "8" "38103275" "38103275" "subst" "0.000333233" "01943" "DDHD2_000010" "g.38103275A>C" "" "" "" "DDHD2(NM_015214.2):c.864A>C (p.I288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38245757A>C" "" "likely benign" "" "0000267296" "0" "50" "8" "38110309" "38110309" "subst" "1.21855E-5" "02325" "DDHD2_000022" "g.38110309C>T" "" "" "" "DDHD2(NM_015214.3):c.1687C>T (p.P563S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38252791C>T" "" "VUS" "" "0000274902" "0" "90" "8" "38103466" "38103466" "subst" "0" "01943" "DDHD2_000014" "g.38103466T>A" "" "" "" "DDHD2(NM_015214.2):c.1055T>A (p.L352*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38245948T>A" "" "pathogenic" "" "0000274903" "0" "30" "8" "38105273" "38105273" "subst" "0.000608917" "01943" "DDHD2_000016" "g.38105273C>T" "" "" "" "DDHD2(NM_015214.2):c.1168C>T (p.L390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38247755C>T" "" "likely benign" "" "0000274904" "0" "30" "8" "38109471" "38109471" "subst" "4.46748E-5" "01943" "DDHD2_000018" "g.38109471C>T" "" "" "" "DDHD2(NM_015214.2):c.1386C>T (p.N462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38251953C>T" "" "likely benign" "" "0000274905" "0" "50" "8" "38109665" "38109665" "subst" "3.2541E-5" "01943" "DDHD2_000020" "g.38109665C>T" "" "" "" "DDHD2(NM_015214.2):c.1477C>T (p.P493S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38252147C>T" "" "VUS" "" "0000274906" "0" "10" "8" "38110215" "38110215" "subst" "0.209819" "01943" "DDHD2_000021" "g.38110215T>C" "" "" "" "DDHD2(NM_015214.2):c.1618-25T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38252697T>C" "" "benign" "" "0000274907" "0" "50" "8" "38111154" "38111154" "subst" "1.21831E-5" "01943" "DDHD2_000024" "g.38111154C>T" "" "" "" "DDHD2(NM_015214.2):c.1972C>T (p.R658C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38253636C>T" "" "VUS" "" "0000274908" "0" "50" "8" "38111160" "38111160" "subst" "6.09142E-5" "01943" "DDHD2_000025" "g.38111160G>C" "" "" "" "DDHD2(NM_001362912.1):c.1978G>C (p.D660H), DDHD2(NM_015214.2):c.1978G>C (p.D660H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38253642G>C" "" "VUS" "" "0000274909" "0" "30" "8" "38111229" "38111229" "subst" "0.00270913" "01943" "DDHD2_000026" "g.38111229T>A" "" "" "" "DDHD2(NM_015214.2):c.2047T>A (p.C683S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38253711T>A" "" "likely benign" "" "0000274910" "0" "10" "8" "38103239" "38103239" "subst" "0.215214" "01943" "DDHD2_000009" "g.38103239T>A" "" "" "" "DDHD2(NM_015214.2):c.849-21T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38245721T>A" "" "benign" "" "0000274911" "0" "30" "8" "38103310" "38103310" "subst" "0.000178734" "01943" "DDHD2_000011" "g.38103310C>T" "" "" "" "DDHD2(NM_015214.2):c.899C>T (p.T300I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38245792C>T" "" "likely benign" "" "0000274912" "0" "10" "8" "38103323" "38103323" "subst" "0.000849014" "01943" "DDHD2_000012" "g.38103323T>A" "" "" "" "DDHD2(NM_015214.2):c.912T>A (p.I304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38245805T>A" "" "benign" "" "0000274913" "0" "30" "8" "38103341" "38103341" "subst" "0.000178764" "01943" "DDHD2_000013" "g.38103341C>T" "" "" "" "DDHD2(NM_015214.2):c.930C>T (p.Y310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38245823C>T" "" "likely benign" "" "0000332096" "0" "50" "8" "38091917" "38091917" "subst" "0.0011905" "01804" "DDHD2_000005" "g.38091917G>T" "" "" "" "DDHD2(NM_001164232.1):c.226G>T (p.(Gly76Cys)), DDHD2(NM_001362912.1):c.226G>T (p.G76C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38234399G>T" "" "VUS" "" "0000332097" "0" "50" "8" "38091918" "38091918" "subst" "0.00117718" "01804" "DDHD2_000006" "g.38091918G>A" "" "" "" "DDHD2(NM_001164232.1):c.227G>A (p.(Gly76Asp)), DDHD2(NM_001362912.1):c.227G>A (p.G76D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38234400G>A" "" "VUS" "" "0000332099" "0" "30" "8" "38105232" "38105232" "subst" "0.00294715" "01804" "DDHD2_000015" "g.38105232A>G" "" "" "" "DDHD2(NM_015214.2):c.1127A>G (p.(Asp376Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38247714A>G" "" "likely benign" "" "0000332100" "0" "50" "8" "38107283" "38107283" "subst" "3.65764E-5" "01804" "DDHD2_000017" "g.38107283A>C" "" "" "" "DDHD2(NM_001164232.1):c.1306A>C (p.(Lys436Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38249765A>C" "" "VUS" "" "0000337924" "0" "10" "8" "38089312" "38089312" "subst" "0" "02327" "DDHD2_000027" "g.38089312C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38231794C>T" "" "benign" "" "0000337927" "0" "90" "8" "38110343" "38110343" "subst" "0" "02327" "DDHD2_000032" "g.38110343G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38252825G>A" "" "pathogenic" "" "0000337928" "0" "10" "8" "38120276" "38120276" "subst" "0" "02327" "PPAPDC1B_000001" "g.38120276C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38262758C>A" "" "benign" "" "0000344171" "0" "70" "8" "38111160" "38111160" "subst" "6.09142E-5" "02327" "DDHD2_000025" "g.38111160G>C" "" "" "" "DDHD2(NM_001362912.1):c.1978G>C (p.D660H), DDHD2(NM_015214.2):c.1978G>C (p.D660H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38253642G>C" "" "likely pathogenic" "" "0000346159" "0" "10" "8" "38110284" "38110284" "subst" "2.03113E-5" "02327" "DDHD2_000031" "g.38110284A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38252766A>G" "" "benign" "" "0000349334" "0" "10" "8" "38095662" "38095662" "subst" "0.203377" "02327" "DDHD2_000028" "g.38095662C>T" "" "" "" "DDHD2(NM_015214.2):c.557C>T (p.T186M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38238144C>T" "" "benign" "" "0000369171" "21" "90" "8" "38117560" "38117560" "del" "0" "00006" "DDHD2_000034" "g.38117560del" "" "{PMID:Schuurs-Hoeijmakers 2013:24123876}" "" "2057delA" "" "Germline" "yes" "" "0" "" "" "g.38260042del" "" "pathogenic" "" "0000369172" "11" "90" "8" "38110557" "38110557" "dup" "0" "00006" "DDHD2_000035" "g.38110557dup" "" "{PMID:Schuurs-Hoeijmakers 2013:24123876}" "" "1804_1805insT" "" "Germline" "yes" "" "0" "" "" "g.38253039dup" "" "pathogenic" "" "0000459764" "3" "90" "8" "38107225" "38110646" "del" "0" "00006" "DDHD2_000036" "g.(38105354_38107225)_(38110646_38111073)del" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}, {PMID:Anazi 2017:27431290}" "" "1249_1891del" "ACMG PVS1, PS4, PM2, PP1" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000534718" "0" "30" "8" "38095662" "38095662" "subst" "0.203377" "01943" "DDHD2_000028" "g.38095662C>T" "" "" "" "DDHD2(NM_015214.2):c.557C>T (p.T186M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38238144C>T" "" "likely benign" "" "0000534719" "0" "30" "8" "38109427" "38109427" "dup" "0" "01804" "DDHD2_000037" "g.38109427dup" "" "" "" "DDHD2(NM_001164232.1):c.1345-6_1345-5insT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38251909dup" "" "likely benign" "" "0000534720" "0" "50" "8" "38109729" "38109729" "subst" "4.06369E-6" "02325" "DDHD2_000038" "g.38109729C>G" "" "" "" "DDHD2(NM_015214.3):c.1541C>G (p.T514S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38252211C>G" "" "VUS" "" "0000534721" "0" "50" "8" "38111164" "38111164" "subst" "0.000117767" "01943" "DDHD2_000039" "g.38111164A>G" "" "" "" "DDHD2(NM_001362912.1):c.1982A>G (p.Y661C), DDHD2(NM_015214.3):c.1982A>G (p.(Tyr661Cys), p.Y661C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38253646A>G" "" "VUS" "" "0000534722" "0" "50" "8" "38111164" "38111164" "subst" "0.000117767" "02329" "DDHD2_000039" "g.38111164A>G" "" "" "" "DDHD2(NM_001362912.1):c.1982A>G (p.Y661C), DDHD2(NM_015214.3):c.1982A>G (p.(Tyr661Cys), p.Y661C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38253646A>G" "" "VUS" "" "0000632327" "3" "70" "8" "38103771" "38103771" "del" "0" "03568" "DDHD2_000040" "g.38103771del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.38246253del" "" "pathogenic" "" "0000656082" "0" "70" "8" "38103337" "38103339" "del" "0" "02325" "DDHD2_000041" "g.38103337_38103339del" "" "" "" "DDHD2(NM_001362912.2):c.926_928delTCT (p.F309del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38245819_38245821del" "" "likely pathogenic" "" "0000656083" "0" "30" "8" "38110506" "38110506" "subst" "7.71806E-5" "01943" "DDHD2_000042" "g.38110506G>A" "" "" "" "DDHD2(NM_001362912.1):c.1752G>A (p.M584I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38252988G>A" "" "likely benign" "" "0000656084" "0" "70" "8" "38111224" "38111224" "subst" "0" "02325" "DDHD2_000043" "g.38111224A>T" "" "" "" "DDHD2(NM_001362912.2):c.2042A>T (p.H681L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38253706A>T" "" "likely pathogenic" "" "0000678381" "0" "30" "8" "38091917" "38091917" "subst" "0.0011905" "01943" "DDHD2_000005" "g.38091917G>T" "" "" "" "DDHD2(NM_001164232.1):c.226G>T (p.(Gly76Cys)), DDHD2(NM_001362912.1):c.226G>T (p.G76C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678382" "0" "30" "8" "38091918" "38091918" "subst" "0.00117718" "01943" "DDHD2_000006" "g.38091918G>A" "" "" "" "DDHD2(NM_001164232.1):c.227G>A (p.(Gly76Asp)), DDHD2(NM_001362912.1):c.227G>A (p.G76D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678383" "0" "90" "8" "38103270" "38103270" "subst" "4.0663E-6" "02325" "DDHD2_000004" "g.38103270C>T" "" "" "" "DDHD2(NM_001362912.2):c.859C>T (p.R287*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000683547" "3" "90" "8" "38110647" "38110647" "dup" "0" "00006" "DDHD2_000044" "g.38110647dup" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM1,PM2" "Germline" "" "" "0" "" "" "g.38253129dup" "" "pathogenic (recessive)" "ACMG" "0000721968" "0" "90" "8" "38092091" "38092091" "subst" "8.37752E-6" "02329" "DDHD2_000008" "g.38092091C>T" "" "" "" "DDHD2(NM_015214.3):c.400C>T (p.Q134*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721969" "0" "90" "8" "38097864" "38097864" "subst" "0" "01943" "DDHD2_000045" "g.38097864C>T" "" "" "" "DDHD2(NM_015214.2):c.694C>T (p.R232*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721970" "0" "50" "8" "38109424" "38109424" "subst" "0" "01943" "DDHD2_000046" "g.38109424C>G" "" "" "" "DDHD2(NM_015214.2):c.1345-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763223" "3" "90" "8" "38107225" "38110646" "del" "0" "00006" "DDHD2_000036" "g.(38105354_38107225)_(38110646_38111073)del" "" "{PMID:Anazi 2017:27431290}" "" "1249_1891del" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000841427" "3" "90" "8" "38111197" "38111197" "subst" "0" "00435" "DDHD2_000001" "g.38111197A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000861203" "0" "30" "8" "38111105" "38111105" "subst" "0" "01943" "DDHD2_000047" "g.38111105T>G" "" "" "" "DDHD2(NM_001164232.1):c.1923T>G (p.V641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861204" "0" "30" "8" "38124761" "38124761" "subst" "0" "01943" "PPAPDC1B_000002" "g.38124761G>A" "" "" "" "PLPP5(NM_001102560.1):c.487C>T (p.P163S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000945931" "3" "70" "8" "38103396" "38103396" "subst" "1.62566E-5" "03312" "DDHD2_000048" "g.38103396C>T" "" "" "" "" "" "Germline" "yes" "rs201258800" "0" "" "" "g.38245878C>T" "VCV000452548.8" "pathogenic" "ACMG" "0000978192" "0" "30" "8" "38103252" "38103252" "subst" "3.66647E-5" "01804" "DDHD2_000049" "g.38103252T>A" "" "" "" "DDHD2(NM_015214.3):c.849-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978193" "0" "50" "8" "38103754" "38103754" "subst" "0" "01804" "DDHD2_000050" "g.38103754C>T" "" "" "" "DDHD2(NM_015214.3):c.1061C>T (p.(Ser354Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989532" "3" "50" "8" "38117568" "38117568" "subst" "4.06739E-6" "03566" "DDHD2_000051" "g.38117568G>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38260050G>T" "" "VUS" "" "0001011941" "1" "90" "8" "38091983" "38091983" "subst" "0" "00006" "DDHD2_000052" "g.38091983C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.38234465C>T" "SUB7801636" "pathogenic (recessive)" "" "0001012003" "2" "90" "8" "38111160" "38111160" "subst" "6.09142E-5" "00006" "DDHD2_000025" "g.38111160G>C" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.38253642G>C" "SUB7801796" "pathogenic (recessive)" "" "0001036950" "0" "50" "8" "38090651" "38090651" "subst" "0.000150266" "01804" "DDHD2_000053" "g.38090651T>G" "" "" "" "DDHD2(NM_015214.3):c.139T>G (p.(Cys47Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036951" "0" "50" "8" "38111164" "38111164" "subst" "0.000117767" "01804" "DDHD2_000039" "g.38111164A>G" "" "" "" "DDHD2(NM_001362912.1):c.1982A>G (p.Y661C), DDHD2(NM_015214.3):c.1982A>G (p.(Tyr661Cys), p.Y661C)" "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 DDHD2 ## Count = 62 "{{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}}" "0000079636" "00024171" "00" "1961" "0" "1961" "0" "c.1961A>G" "r.(?)" "p.(Asn654Ser)" "" "0000079637" "00024171" "00" "1961" "0" "1961" "0" "c.1961A>G" "r.(?)" "p.(Asn654Ser)" "" "0000079700" "00024171" "00" "2015" "0" "2015" "0" "c.2015A>G" "r.(?)" "p.(Asn672Ser)" "" "0000079701" "00024171" "00" "2015" "0" "2015" "0" "c.2015A>G" "r.(?)" "p.(Asn672Ser)" "" "0000130421" "00024171" "70" "1057" "5" "1057" "5" "c.1057+5C>G" "r.spl?" "p.?" "8i" "0000154085" "00024171" "70" "1057" "5" "1057" "5" "c.1057+5C>G" "r.spl?" "p.?" "8i" "0000154086" "00024171" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287*)" "8" "0000254528" "00024171" "30" "864" "0" "864" "0" "c.864A>C" "r.(?)" "p.(Ile288=)" "" "0000267296" "00024171" "50" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Pro563Ser)" "" "0000274902" "00024171" "90" "1055" "0" "1055" "0" "c.1055T>A" "r.(?)" "p.(Leu352Ter)" "" "0000274903" "00024171" "30" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Leu390=)" "" "0000274904" "00024171" "30" "1386" "0" "1386" "0" "c.1386C>T" "r.(?)" "p.(Asn462=)" "" "0000274905" "00024171" "50" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Pro493Ser)" "" "0000274906" "00024171" "10" "1618" "-25" "1618" "-25" "c.1618-25T>C" "r.(=)" "p.(=)" "" "0000274907" "00024171" "50" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Cys)" "" "0000274908" "00024171" "50" "1978" "0" "1978" "0" "c.1978G>C" "r.(?)" "p.(Asp660His)" "" "0000274909" "00024171" "30" "2047" "0" "2047" "0" "c.2047T>A" "r.(?)" "p.(Cys683Ser)" "" "0000274910" "00024171" "10" "849" "-21" "849" "-21" "c.849-21T>A" "r.(=)" "p.(=)" "" "0000274911" "00024171" "30" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Ile)" "" "0000274912" "00024171" "10" "912" "0" "912" "0" "c.912T>A" "r.(?)" "p.(Ile304=)" "" "0000274913" "00024171" "30" "930" "0" "930" "0" "c.930C>T" "r.(?)" "p.(Tyr310=)" "" "0000332096" "00024171" "50" "226" "0" "226" "0" "c.226G>T" "r.(?)" "p.(Gly76Cys)" "" "0000332097" "00024171" "50" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Gly76Asp)" "" "0000332099" "00024171" "30" "1127" "0" "1127" "0" "c.1127A>G" "r.(?)" "p.(Asp376Gly)" "" "0000332100" "00024171" "50" "1306" "0" "1306" "0" "c.1306A>C" "r.(?)" "p.(Lys436Gln)" "" "0000337924" "00024171" "10" "-74" "0" "-74" "0" "c.-74C>T" "r.(?)" "p.(=)" "" "0000337927" "00024171" "90" "1720" "1" "1720" "1" "c.1720+1G>A" "r.spl?" "p.?" "" "0000337928" "00024171" "10" "4321" "0" "4321" "0" "c.*2185C>A" "r.(=)" "p.(=)" "" "0000344171" "00024171" "70" "1978" "0" "1978" "0" "c.1978G>C" "r.(?)" "p.(Asp660His)" "" "0000346159" "00024171" "10" "1662" "0" "1662" "0" "c.1662A>G" "r.(?)" "p.(Gly554=)" "" "0000349334" "00024171" "10" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Thr186Met)" "" "0000369171" "00024171" "90" "2057" "0" "2057" "0" "c.2057del" "r.(?)" "p.(Glu686Glyfs*35)" "" "0000369172" "00024171" "90" "1803" "0" "1803" "0" "c.1803dup" "r.(?)" "p.(Thr602Tyrfs*18)" "" "0000459764" "00024171" "90" "1249" "-1" "1891" "1" "c.(1248+1_1249-1)_(1891+1_1892-1)del" "r.?" "p.(Ala417Metfs*23)" "" "0000534718" "00024171" "30" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Thr186Met)" "" "0000534719" "00024171" "30" "1345" "-3" "1345" "-3" "c.1345-3dup" "r.spl?" "p.?" "" "0000534720" "00024171" "50" "1541" "0" "1541" "0" "c.1541C>G" "r.(?)" "p.(Thr514Ser)" "" "0000534721" "00024171" "50" "1982" "0" "1982" "0" "c.1982A>G" "r.(?)" "p.(Tyr661Cys)" "" "0000534722" "00024171" "50" "1982" "0" "1982" "0" "c.1982A>G" "r.(?)" "p.(Tyr661Cys)" "" "0000632327" "00024171" "70" "1078" "0" "1078" "0" "c.1078del" "r.(?)" "p.(Ile360Serfs*2)" "9" "0000656082" "00024171" "70" "926" "0" "928" "0" "c.926_928del" "r.(?)" "p.(Phe309del)" "" "0000656083" "00024171" "30" "1752" "0" "1752" "0" "c.1752G>A" "r.(?)" "p.(Met584Ile)" "" "0000656084" "00024171" "70" "2042" "0" "2042" "0" "c.2042A>T" "r.(?)" "p.(His681Leu)" "" "0000678381" "00024171" "30" "226" "0" "226" "0" "c.226G>T" "r.(?)" "p.(Gly76Cys)" "" "0000678382" "00024171" "30" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Gly76Asp)" "" "0000678383" "00024171" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Ter)" "" "0000683547" "00024171" "90" "1891" "2" "1891" "2" "c.1891+2dup" "r.spl" "p.?" "" "0000721968" "00024171" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Gln134Ter)" "" "0000721969" "00024171" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232*)" "" "0000721970" "00024171" "50" "1345" "-6" "1345" "-6" "c.1345-6C>G" "r.(=)" "p.(=)" "" "0000763223" "00024171" "90" "1249" "-1" "1891" "1" "c.(1248+1_1249-1)_(1891+1_1892-1)del" "r.?" "p.(Ala417Metfs*23)" "" "0000841427" "00024171" "90" "2015" "0" "2015" "0" "c.2015A>G" "r.(?)" "p.(Asn672Ser)" "16" "0000861203" "00024171" "30" "1923" "0" "1923" "0" "c.1923T>G" "r.(?)" "p.(Val641=)" "" "0000861204" "00024171" "30" "8806" "0" "8806" "0" "c.*6670G>A" "r.(=)" "p.(=)" "" "0000945931" "00024171" "70" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329Ter)" "" "0000978192" "00024171" "30" "849" "-8" "849" "-8" "c.849-8T>A" "r.(=)" "p.(=)" "" "0000978193" "00024171" "50" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Ser354Leu)" "" "0000989532" "00024171" "50" "2065" "0" "2065" "0" "c.2065G>T" "r.(?)" "p.(Asp689Tyr)" "" "0001011941" "00024171" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0001012003" "00024171" "90" "1978" "0" "1978" "0" "c.1978G>C" "r.(?)" "p.(Asp660His)" "" "0001036950" "00024171" "50" "139" "0" "139" "0" "c.139T>G" "r.(?)" "p.(Cys47Gly)" "" "0001036951" "00024171" "50" "1982" "0" "1982" "0" "c.1982A>G" "r.(?)" "p.(Tyr661Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000050656" "0000079636" "0000050656" "0000079700" "0000050657" "0000079637" "0000050657" "0000079701" "0000081325" "0000130421" "0000095516" "0000154085" "0000095517" "0000154086" "0000165506" "0000369171" "0000165506" "0000369172" "0000226740" "0000459764" "0000277468" "0000632327" "0000309084" "0000683547" "0000362849" "0000763223" "0000405341" "0000841427" "0000444088" "0000945931" "0000454643" "0000989532" "0000457438" "0001011941" "0000457438" "0001012003"