### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HYDIN) # 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}}" "HYDIN" "HYDIN, axonemal central pair apparatus protein" "16" "q22.2" "unknown" "NC_000016.9" "UD_136019383311" "" "https://www.LOVD.nl/HYDIN" "" "1" "19368" "54768" "610812" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/HYDIN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-27 14:22:51" "00000" "2025-05-05 21:14:00" ## 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}}" "00023973" "HYDIN" "transcript variant 1" "001" "NM_001270974.1" "" "NP_001257903.1" "" "" "" "-184" "15562" "15366" "71264625" "70841287" "00006" "2014-11-02 20:56:45" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "00414" "PD" "Parkinson disease, susceptibility to" "AD;AR;Mu" "168600" "" "" "" "00006" "2014-06-15 21:26:13" "00006" "2023-10-27 16:16:06" "00505" "CILD5" "dyskinesia, ciliary, primary, type 5 (CILD-5)" "AR" "608647" "" "" "" "00006" "2014-08-16 15:25:33" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "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 = 2 "{{geneid}}" "{{diseaseid}}" "HYDIN" "00332" "HYDIN" "00505" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00018546" "" "" "" "9" "" "00087" "{PMID:Quadri 2014:25294124}" "" "" "" "Italy" "" "0" "" "" "Sardinians" "" "00183324" "" "" "" "1" "" "02596" "" "" "" "" "" "" "0" "" "" "Tunisian" "17GM00371" "00183325" "" "" "" "1" "" "02596" "" "" "" "" "" "" "0" "" "" "Tunisian" "17GM00373" "00183326" "" "" "" "1" "" "02596" "" "" "" "" "" "" "0" "" "" "Tunisian" "17GM01734" "00207896" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "M" "" "Canada" "" "0" "" "" "" "28771251-Pat112" "00271385" "" "" "" "1" "" "00006" "{PMID:Davidson 2013:23849777}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Israel" "" "0" "" "" "European" "FamGC19277" "00291537" "" "" "" "67" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291538" "" "" "" "137" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304533" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304534" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307077" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "no" "" "" "0" "" "" "white" "Pat2" "00374131" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "F" "" "France" "" "0" "" "" "" "" "00424148" "" "" "" "1" "" "04416" "" "" "M" "no" "(China)" "" "" "" "" "Asian" "AY078" "00424149" "" "" "" "1" "cc_by-nc-sa_4.0;1" "04416" "" "" "M" "no" "China" "" "" "" "" "Asian" "AY079" "00454796" "" "" "" "1" "" "00006" "{PMID:Burgoyne 2024:39291810}" "2-generation family, 1 affected, unaffected parents" "F" "" "Finland" "" "0" "" "" "" "S10" "00454797" "" "" "" "2" "" "00006" "{PMID:Burgoyne 2024:39291810}" "2-generation family, 2 affected brothers, unaffected parents" "M" "" "Finland" "" "0" "" "" "" "S6" "00454798" "" "" "00454797" "1" "" "00006" "{PMID:Burgoyne 2024:39291810}" "brother" "M" "" "Finland" "" "0" "" "" "" "S7" "00454799" "" "" "" "1" "" "00006" "{PMID:Burgoyne 2024:39291810}" "2-generation family, 1 affected, unaffected parents" "F" "" "Finland" "" "0" "" "" "" "S8" "00462332" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat17" "00462333" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat18" "00462407" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00018546" "00414" "00183324" "00332" "00183325" "00332" "00183326" "00332" "00207896" "00198" "00271385" "04214" "00271385" "05086" "00291537" "00198" "00291538" "00198" "00304533" "00198" "00304534" "00198" "00307077" "05611" "00374131" "00198" "00424148" "00505" "00424149" "00505" "00454796" "00332" "00454797" "00332" "00454798" "00332" "00454799" "00332" "00462332" "00332" "00462333" "00332" "00462407" "00332" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00332, 00414, 00505, 04214, 05086, 05611 ## 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}}" "0000020324" "00414" "00018546" "00087" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144062" "00332" "00183324" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144063" "00332" "00183325" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144064" "00332" "00183326" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155680" "00198" "00207896" "00006" "Familial, autosomal recessive" "" "Ciliary dyskinesia" "" "" "" "" "" "" "" "" "CILD-5" "" "" "0000207991" "04214" "00271385" "00006" "Familial, autosomal recessive" "48y" "retinitis pigmentosa, respiratory failure from early age, required physiotherapy regularly through school years;20s-night-vision problems, ERG confirmed severe rod and /cone dysfunction, progressive loss peripheral vision and later central vision; visual acuities right 0.25/left 0.5, visual fields constricted to 10, fundus examination revealed widespread retinal degeneration with only sparse bone-spicule pigmentation" "" "" "" "" "" "" "" "" "RP82" "retinitis pigmentosa" "" "0000207992" "05086" "00271385" "00006" "Familial, autosomal recessive" "48y" "primary ciliary dyskinesia, recurrent otitis media progressively affecting hearing" "" "" "" "" "" "" "" "" "CILD5" "hearing loss" "" "0000232895" "05611" "00307077" "00006" "Familial, autosomal recessive" "12y" "birth height 47 cm (-2.28 SD), weight 3,350 g (-0.6 SD), OFC 33 cm (-1.32 SD); height 144.6 cm (-0.82 SD), weight 30 kg (-1.99 SD), OFC 52 cm (-1.01 SD); developmental delay; intellectual disability; speech dealy; attention deficit hyperactivity disorder; learning disorder; hypotonia; no epilepsy; atrial septal defect, mild mitral valve prolapse; pes planus, mild legs asymmetry (5 mm); prominent metopic ridge, bitemporal narrowing, hypertelorism, downslanting palpebral fissures, ptosis, low-set posteriorly rotated ears, wide nasal bridge, prominent and pointed chin, low posterior hairline; 1 cafè au lait spot, 3 hypochromic spots; cryptorchidism; no GER; no recurrent infections; periphery lymphedema; no bleeding, no easy bruising; no hearing problems; cavum setto pellucido; normal abdominal ultrasound" "" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000269342" "00198" "00374131" "00006" "Unknown" "<0d" "17w-fetus, ultrasound Fetal akinesia; autopsy Hydrops, multiple pterygium" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000315478" "00505" "00424149" "04416" "Familial, autosomal recessive" "" "asthenoteratozoospermia, male infertility" "" "" "" "" "" "" "" "" "" "" "" "0000315479" "00505" "00424148" "04416" "Familial, autosomal recessive" "" "asthenoteratozoospermia, male infertility" "" "" "" "" "" "" "" "" "" "" "" "0000343407" "00332" "00454796" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., cilia beating pattern unsyncronized, wavy" "" "" "" "" "" "" "" "" "CILD5" "primary ciliary dyskinesia" "" "0000343408" "00332" "00454797" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., cilia beat frequency 10.8 Hz, cilia beating pattern stiff, static" "" "" "" "" "" "" "" "" "CILD5" "primary ciliary dyskinesia" "" "0000343409" "00332" "00454798" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., cilia beat frequency 0 Hz, cilia beating pattern stiff, static" "" "" "" "" "" "" "" "" "CILD5" "primary ciliary dyskinesia" "" "0000343410" "00332" "00454799" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., cilia beat frequency 0 Hz, cilia beating pattern static" "" "" "" "" "" "" "" "" "CILD5" "primary ciliary dyskinesia" "" "0000349831" "00332" "00462332" "00006" "Unknown" "" "primary ciliary dyskinesia" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349832" "00332" "00462333" "00006" "Unknown" "" "33wg-birth prematurity, primary ciliary dyskinesia" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349906" "00332" "00462407" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000018530" "00018546" "1" "00087" "00087" "2014-07-21 15:09:28" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000184285" "00183324" "1" "02596" "02596" "2018-10-23 00:20:34" "" "" "SEQ-NG" "DNA" "" "" "0000184286" "00183325" "1" "02596" "02596" "2018-10-23 00:24:36" "" "" "SEQ-NG" "DNA" "" "" "0000184287" "00183326" "1" "02596" "02596" "2018-10-23 00:28:38" "" "" "SEQ-NG" "DNA" "" "" "0000208938" "00207896" "1" "00006" "00006" "2018-12-02 17:52:50" "" "" "SEQ" "DNA" "" "WGS" "0000272536" "00271385" "1" "00006" "00006" "2019-12-19 09:19:56" "00006" "2019-12-19 09:34:45" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000292705" "00291537" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292706" "00291538" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305662" "00304533" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305663" "00304534" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308219" "00307077" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375324" "00374131" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000425459" "00424148" "1" "04416" "04416" "2022-11-18 04:34:32" "" "" "SEQ" "DNA" "" "WES" "0000425460" "00424149" "1" "04416" "04416" "2022-11-18 05:11:13" "" "" "SEQ" "DNA" "" "" "0000456407" "00454796" "1" "00006" "00006" "2024-09-27 14:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000456408" "00454797" "1" "00006" "00006" "2024-09-27 14:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000456409" "00454798" "1" "00006" "00006" "2024-09-27 14:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000456410" "00454799" "1" "00006" "00006" "2024-09-27 14:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463964" "00462332" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463965" "00462333" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464039" "00462407" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000018530" "HYDIN" "0000184285" "HYDIN" "0000184286" "HYDIN" "0000184287" "HYDIN" "0000208938" "HYDIN" "0000272536" "ARL2BP" "0000272536" "HYDIN" "0000308219" "MAPK1" "0000375324" "HYDIN" "0000425459" "HYDIN" "0000425460" "HYDIN" ## 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 = 236 "{{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}}" "0000038996" "0" "50" "16" "70998652" "70998652" "subst" "0" "00087" "HYDIN_000001" "g.70998652C>T" "" "{PMID:Quadri 2014:25294124}" "" "" "" "Germline" "" "" "0" "" "" "g.70964749C>T" "" "VUS" "" "0000253668" "0" "10" "16" "70896017" "70896017" "del" "0" "01943" "HYDIN_000015" "g.70896017del" "" "" "" "HYDIN(NM_001270974.2):c.11712delT (p.Q3905Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70862114del" "" "benign" "" "0000254524" "0" "30" "16" "70942706" "70942706" "subst" "0" "01943" "HYDIN_000034" "g.70942706A>T" "" "" "" "HYDIN(NM_001270974.2):c.8063T>A (p.I2688K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70908803A>T" "" "likely benign" "" "0000256209" "0" "50" "16" "71052311" "71052311" "subst" "0" "01943" "HYDIN_000055" "g.71052311A>G" "" "" "" "HYDIN(NM_001270974.2):c.3365T>C (p.L1122P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71018408A>G" "" "VUS" "" "0000256610" "0" "50" "16" "70897059" "70897059" "subst" "0" "01943" "HYDIN_000016" "g.70897059A>G" "" "" "" "HYDIN(NM_001270974.2):c.11498T>C (p.V3833A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70863156A>G" "" "VUS" "" "0000256622" "0" "50" "16" "71101217" "71101217" "subst" "1.2251E-5" "01943" "HYDIN_000064" "g.71101217A>G" "" "" "" "HYDIN(NM_001270974.2):c.2051T>C (p.V684A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71067314A>G" "" "VUS" "" "0000281457" "0" "10" "16" "71100838" "71100838" "subst" "0" "02325" "HYDIN_000063" "g.71100838T>C" "" "" "" "HYDIN(NM_001270974.2):c.2075+355A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71066935T>C" "" "benign" "" "0000281458" "0" "10" "16" "70972595" "70972595" "subst" "0.612156" "02325" "HYDIN_000038" "g.70972595T>C" "" "" "" "HYDIN(NM_001270974.2):c.6917A>G (p.E2306G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70938692T>C" "" "benign" "" "0000281459" "0" "10" "16" "70954915" "70954915" "subst" "0.997211" "02325" "HYDIN_000036" "g.70954915G>T" "" "" "" "HYDIN(NM_001270974.2):c.7364C>A (p.P2455Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70921012G>T" "" "benign" "" "0000289279" "0" "30" "16" "70913352" "70913352" "subst" "0" "01943" "HYDIN_000026" "g.70913352C>T" "" "" "" "HYDIN(NM_001270974.2):c.10405G>A (p.A3469T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70879449C>T" "" "likely benign" "" "0000289280" "0" "30" "16" "70905984" "70905984" "subst" "0.000822774" "01943" "HYDIN_000025" "g.70905984G>A" "" "" "" "HYDIN(NM_001270974.2):c.11047C>T (p.R3683W, p.(Arg3683Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70872081G>A" "" "likely benign" "" "0000289281" "0" "50" "16" "71163665" "71163665" "subst" "2.08316E-5" "01943" "HYDIN_000067" "g.71163665T>C" "" "" "" "HYDIN(NM_001270974.2):c.1105A>G (p.I369V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71129762T>C" "" "VUS" "" "0000289282" "0" "30" "16" "70902610" "70902610" "subst" "0" "01943" "HYDIN_000024" "g.70902610G>A" "" "" "" "HYDIN(NM_001270974.2):c.11173C>T (p.R3725W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70868707G>A" "" "likely benign" "" "0000289283" "0" "30" "16" "70902557" "70902557" "subst" "0" "01943" "HYDIN_000023" "g.70902557G>C" "" "" "" "HYDIN(NM_001270974.2):c.11226C>G (p.V3742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70868654G>C" "" "likely benign" "" "0000289284" "0" "10" "16" "70902527" "70902527" "subst" "0.00127656" "01943" "HYDIN_000022" "g.70902527G>C" "" "" "" "HYDIN(NM_001270974.2):c.11256C>G (p.V3752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70868624G>C" "" "benign" "" "0000289285" "0" "50" "16" "70902514" "70902514" "subst" "0.000345846" "01943" "HYDIN_000021" "g.70902514C>T" "" "" "" "HYDIN(NM_001270974.2):c.11269G>A (p.V3757I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70868611C>T" "" "VUS" "" "0000289286" "0" "50" "16" "70902477" "70902477" "subst" "8.36449E-6" "01943" "HYDIN_000020" "g.70902477C>T" "" "" "" "HYDIN(NM_001270974.2):c.11306G>A (p.R3769Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70868574C>T" "" "VUS" "" "0000289287" "0" "30" "16" "70900215" "70900215" "subst" "0.000292508" "01943" "HYDIN_000019" "g.70900215C>T" "" "" "" "HYDIN(NM_001270974.2):c.11328G>A (p.P3776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70866312C>T" "" "likely benign" "" "0000289288" "0" "50" "16" "70900148" "70900148" "subst" "0" "01943" "HYDIN_000018" "g.70900148C>A" "" "" "" "HYDIN(NM_001270974.2):c.11395G>T (p.D3799Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70866245C>A" "" "VUS" "" "0000289289" "0" "50" "16" "70897087" "70897087" "subst" "0" "01943" "HYDIN_000017" "g.70897087T>C" "" "" "" "HYDIN(NM_001270974.2):c.11472-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70863184T>C" "" "VUS" "" "0000289290" "0" "30" "16" "71163622" "71163622" "subst" "8.12486E-6" "01943" "HYDIN_000066" "g.71163622C>T" "" "" "" "HYDIN(NM_001270974.2):c.1148G>A (p.R383Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71129719C>T" "" "likely benign" "" "0000289291" "0" "30" "16" "70894651" "70894651" "subst" "0" "01943" "HYDIN_000014" "g.70894651C>T" "" "" "" "HYDIN(NM_001270974.2):c.11931G>A (p.L3977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70860748C>T" "" "likely benign" "" "0000289292" "0" "50" "16" "70894603" "70894603" "subst" "0" "01943" "HYDIN_000013" "g.70894603C>A" "" "" "" "HYDIN(NM_001270974.2):c.11979G>T (p.G3993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70860700C>A" "" "VUS" "" "0000289293" "0" "30" "16" "70889125" "70889125" "subst" "8.38054E-5" "01943" "HYDIN_000012" "g.70889125C>T" "" "" "" "HYDIN(NM_001270974.2):c.12349G>A (p.D4117N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70855222C>T" "" "likely benign" "" "0000289294" "0" "30" "16" "70889114" "70889114" "subst" "0.00611659" "01943" "HYDIN_000010" "g.70889114G>A" "" "" "" "HYDIN(NM_001270974.2):c.12360C>T (p.F4120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70855211G>A" "" "likely benign" "" "0000289295" "0" "30" "16" "70889072" "70889072" "subst" "0" "01943" "HYDIN_000009" "g.70889072C>A" "" "" "" "HYDIN(NM_001270974.2):c.12402G>T (p.L4134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70855169C>A" "" "likely benign" "" "0000289296" "0" "30" "16" "71149660" "71149660" "subst" "5.34416E-5" "01943" "HYDIN_000065" "g.71149660G>A" "" "" "" "HYDIN(NM_001270974.2):c.1266C>T (p.T422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71115757G>A" "" "likely benign" "" "0000289298" "0" "30" "16" "70867855" "70867855" "subst" "0.0036029" "01943" "HYDIN_000005" "g.70867855G>C" "" "" "" "HYDIN(NM_001270974.2):c.13614C>G (p.P4538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70833952G>C" "" "likely benign" "" "0000289299" "0" "30" "16" "70862321" "70862321" "subst" "0" "01943" "HYDIN_000004" "g.70862321G>A" "" "" "" "HYDIN(NM_001270974.2):c.14124C>T (p.F4708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70828418G>A" "" "likely benign" "" "0000289300" "0" "50" "16" "70862245" "70862245" "subst" "0" "01943" "HYDIN_000003" "g.70862245T>C" "" "" "" "HYDIN(NM_001270974.2):c.14200A>G (p.I4734V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70828342T>C" "" "VUS" "" "0000289301" "0" "30" "16" "71098642" "71098642" "subst" "0.00254079" "01943" "HYDIN_000062" "g.71098642T>C" "" "" "" "HYDIN(NM_001270974.2):c.2177A>G (p.D726G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71064739T>C" "" "likely benign" "" "0000289302" "0" "30" "16" "71096167" "71096167" "subst" "0.000820565" "01943" "HYDIN_000060" "g.71096167T>A" "" "" "" "HYDIN(NM_001270974.2):c.2281A>T (p.T761S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71062264T>A" "" "likely benign" "" "0000289303" "0" "30" "16" "71096164" "71096164" "subst" "0" "01943" "HYDIN_000059" "g.71096164T>C" "" "" "" "HYDIN(NM_001270974.2):c.2284A>G (p.I762V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71062261T>C" "" "likely benign" "" "0000289304" "0" "30" "16" "71061529" "71061529" "subst" "0.000313996" "01943" "HYDIN_000057" "g.71061529G>A" "" "" "" "HYDIN(NM_001270974.2):c.3018C>T (p.L1006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71027626G>A" "" "likely benign" "" "0000289305" "0" "10" "16" "71059337" "71059337" "subst" "0" "01943" "HYDIN_000056" "g.71059337G>A" "" "" "" "HYDIN(NM_001270974.2):c.3135C>T (p.V1045=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71025434G>A" "" "benign" "" "0000289306" "0" "30" "16" "71022326" "71022326" "subst" "0.016692" "01943" "HYDIN_000054" "g.71022326C>T" "" "" "" "HYDIN(NM_001270974.2):c.3954G>A (p.Q1318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70988423C>T" "" "likely benign" "" "0000289307" "0" "30" "16" "71021849" "71021849" "subst" "0" "01943" "HYDIN_000053" "g.71021849T>C" "" "" "" "HYDIN(NM_001270974.2):c.4172A>G (p.K1391R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70987946T>C" "" "likely benign" "" "0000289308" "0" "10" "16" "71019225" "71019225" "subst" "0" "01943" "HYDIN_000052" "g.71019225G>A" "" "" "" "HYDIN(NM_001270974.2):c.4195C>T (p.L1399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70985322G>A" "" "benign" "" "0000289309" "0" "10" "16" "71015475" "71015475" "subst" "0.000776544" "01943" "HYDIN_000051" "g.71015475C>T" "" "" "" "HYDIN(NM_001270974.2):c.4333-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70981572C>T" "" "benign" "" "0000289310" "0" "30" "16" "71012867" "71012867" "subst" "0" "01943" "HYDIN_000050" "g.71012867C>A" "" "" "" "HYDIN(NM_001270974.2):c.4588G>T (p.D1530Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70978964C>A" "" "likely benign" "" "0000289311" "0" "30" "16" "71009101" "71009101" "subst" "0" "01943" "HYDIN_000049" "g.71009101T>G" "" "" "" "HYDIN(NM_001270974.2):c.4710A>C (p.T1570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70975198T>G" "" "likely benign" "" "0000289312" "0" "30" "16" "71009099" "71009099" "subst" "0" "01943" "HYDIN_000048" "g.71009099G>T" "" "" "" "HYDIN(NM_001270974.2):c.4712C>A (p.T1571N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70975196G>T" "" "likely benign" "" "0000289313" "0" "50" "16" "71007323" "71007323" "subst" "0" "01943" "HYDIN_000047" "g.71007323C>T" "" "" "" "HYDIN(NM_001270974.2):c.5302G>A (p.E1768K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70973420C>T" "" "VUS" "" "0000289314" "0" "50" "16" "71007314" "71007314" "del" "0" "01943" "HYDIN_000046" "g.71007314del" "" "" "" "HYDIN(NM_001270974.2):c.5313delC (p.I1772Ffs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70973411del" "" "VUS" "" "0000289315" "0" "10" "16" "70998792" "70998792" "subst" "0.00149658" "01943" "HYDIN_000045" "g.70998792C>T" "" "" "" "HYDIN(NM_001270974.2):c.5627G>A (p.R1876Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70964889C>T" "" "benign" "" "0000289316" "0" "50" "16" "70998744" "70998744" "subst" "0" "01943" "HYDIN_000044" "g.70998744C>T" "" "" "" "HYDIN(NM_001270974.2):c.5675G>A (p.R1892H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70964841C>T" "" "VUS" "" "0000289317" "0" "30" "16" "70989406" "70989406" "subst" "0.000507141" "01943" "HYDIN_000043" "g.70989406G>A" "" "" "" "HYDIN(NM_001270974.1):c.6188C>T (p.(Ala2063Val)), HYDIN(NM_001270974.2):c.6188C>T (p.A2063V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70955503G>A" "" "likely benign" "" "0000289319" "0" "30" "16" "70977833" "70977833" "subst" "0.000299411" "01943" "HYDIN_000041" "g.70977833G>A" "" "" "" "HYDIN(NM_001270974.2):c.6551C>T (p.P2184L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70943930G>A" "" "likely benign" "" "0000289320" "0" "50" "16" "70977806" "70977806" "subst" "4.10499E-6" "01943" "HYDIN_000040" "g.70977806C>G" "" "" "" "HYDIN(NM_001270974.2):c.6578G>C (p.S2193T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70943903C>G" "" "VUS" "" "0000289321" "0" "30" "16" "70977778" "70977778" "subst" "2.04792E-5" "01943" "HYDIN_000039" "g.70977778G>A" "" "" "" "HYDIN(NM_001270974.2):c.6606C>T (p.T2202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70943875G>A" "" "likely benign" "" "0000289322" "0" "30" "16" "70972532" "70972532" "subst" "0" "01943" "HYDIN_000037" "g.70972532C>G" "" "" "" "HYDIN(NM_001270974.2):c.6980G>C (p.R2327P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70938629C>G" "" "likely benign" "" "0000289323" "0" "30" "16" "70952281" "70952281" "subst" "0" "01943" "HYDIN_000035" "g.70952281C>T" "" "" "" "HYDIN(NM_001270974.2):c.7837G>A (p.A2613T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70918378C>T" "" "likely benign" "" "0000289324" "0" "50" "16" "70942706" "70942714" "del" "0" "01943" "HYDIN_000033" "g.70942706_70942714del" "" "" "" "HYDIN(NM_001270974.2):c.8058_8066delAAAGATAGA (p.E2686_I2688del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70908803_70908811del" "" "VUS" "" "0000289325" "0" "10" "16" "70935093" "70935093" "subst" "0" "01943" "HYDIN_000031" "g.70935093C>T" "" "" "" "HYDIN(NM_001270974.2):c.8862G>A (p.R2954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70901190C>T" "" "benign" "" "0000289326" "0" "30" "16" "70934913" "70934913" "subst" "0" "01943" "HYDIN_000030" "g.70934913C>T" "" "" "" "HYDIN(NM_001270974.2):c.9042G>A (p.R3014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70901010C>T" "" "likely benign" "" "0000289327" "0" "30" "16" "70928402" "70928402" "subst" "0" "01943" "HYDIN_000029" "g.70928402C>T" "" "" "" "HYDIN(NM_001270974.2):c.9198G>A (p.A3066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70894499C>T" "" "likely benign" "" "0000289328" "0" "50" "16" "70925789" "70925789" "subst" "0" "01943" "HYDIN_000028" "g.70925789T>C" "" "" "" "HYDIN(NM_001270974.2):c.9418-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70891886T>C" "" "VUS" "" "0000289329" "0" "30" "16" "70925549" "70925549" "subst" "0" "01943" "HYDIN_000027" "g.70925549G>A" "" "" "" "HYDIN(NM_001270974.2):c.9656C>T (p.A3219V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70891646G>A" "" "likely benign" "" "0000324871" "0" "50" "16" "70867931" "70867931" "subst" "0.00107813" "01804" "HYDIN_000006" "g.70867931C>T" "" "" "" "HYDIN(NM_001270974.1):c.13538G>A (p.(Arg4513His)), HYDIN(NM_001270974.2):c.13538G>A (p.R4513H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70834028C>T" "" "VUS" "" "0000324872" "0" "50" "16" "70874111" "70874111" "subst" "0.00107079" "01804" "HYDIN_000008" "g.70874111C>G" "" "" "" "HYDIN(NM_001270974.1):c.12899G>C (p.(Cys4300Ser)), HYDIN(NM_001270974.2):c.12899G>C (p.C4300S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70840208C>G" "" "VUS" "" "0000324873" "0" "50" "16" "70889114" "70889114" "subst" "0.000792892" "01804" "HYDIN_000011" "g.70889114G>T" "" "" "" "HYDIN(NM_001270974.1):c.12360C>A (p.(Phe4120Leu)), HYDIN(NM_001270974.2):c.12360C>A (p.F4120L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70855211G>T" "" "VUS" "" "0000324874" "0" "50" "16" "70942600" "70942600" "subst" "1.54134E-5" "01804" "HYDIN_000032" "g.70942600G>C" "" "" "" "HYDIN(NM_001270974.1):c.8169C>G (p.(Asp2723Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70908697G>C" "" "VUS" "" "0000324875" "0" "30" "16" "71061573" "71061573" "subst" "0.000719754" "01804" "HYDIN_000058" "g.71061573C>T" "" "" "" "HYDIN(NM_001198542.1):c.*4005G>A (p.(=)), HYDIN(NM_001270974.2):c.2974G>A (p.A992T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71027670C>T" "" "likely benign" "" "0000324876" "0" "50" "16" "71096193" "71096193" "subst" "1.74315E-5" "01804" "HYDIN_000061" "g.71096193G>C" "" "" "" "HYDIN(NM_001198542.1):c.2336C>G (p.(Pro779Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71062290G>C" "" "VUS" "" "0000408302" "3" "70" "16" "71163623" "71163623" "subst" "0" "02596" "HYDIN_000068" "g.71163623G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71129720G>A" "" "likely pathogenic" "" "0000408303" "3" "70" "16" "70852466" "70852466" "subst" "7.36258E-6" "02596" "HYDIN_000069" "g.70852466G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70818563G>A" "" "likely pathogenic" "" "0000408304" "3" "70" "16" "70937809" "70937810" "del" "0" "02596" "HYDIN_000070" "g.70937809_70937810delinsC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70903906_70903907delinsC" "" "likely pathogenic" "" "0000438974" "1" "90" "16" "70913391" "70913391" "subst" "0" "00006" "HYDIN_000071" "g.70913391T>C" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.70879488T>C" "" "pathogenic (recessive)" "" "0000438975" "2" "90" "16" "70937809" "70937810" "del" "0" "00006" "HYDIN_000070" "g.70937809_70937810delinsC" "" "{PMID:Lionel 2018:28771251}" "" "8674C>G;8675delA" "" "Germline" "" "" "0" "" "" "g.70903906_70903907delinsC" "" "pathogenic (recessive)" "" "0000558974" "0" "50" "16" "70834794" "70834794" "subst" "0" "01804" "VAC14_000006" "g.70834794C>A" "" "" "" "VAC14(NM_018052.3):c.10G>T (p.(Glu4Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70800891C>A" "" "VUS" "" "0000558976" "0" "30" "16" "70862193" "70862193" "subst" "0" "01804" "HYDIN_000072" "g.70862193G>A" "" "" "" "HYDIN(NM_001270974.1):c.14252C>T (p.(Thr4751Ile)), HYDIN(NM_001270974.2):c.14252C>T (p.T4751I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70828290G>A" "" "likely benign" "" "0000558978" "0" "50" "16" "70863634" "70863634" "subst" "0.000142888" "01804" "HYDIN_000073" "g.70863634C>A" "" "" "" "HYDIN(NM_001270974.1):c.13999G>T (p.(Gly4667Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70829731C>A" "" "VUS" "" "0000558980" "0" "50" "16" "70866782" "70866782" "subst" "0" "01804" "HYDIN_000075" "g.70866782C>G" "" "" "" "HYDIN(NM_001270974.1):c.13868G>C (p.(Gly4623Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70832879C>G" "" "VUS" "" "0000558981" "0" "30" "16" "70866845" "70866845" "subst" "0" "01804" "HYDIN_000076" "g.70866845C>A" "" "" "" "HYDIN(NM_001270974.1):c.13805G>T (p.(Ser4602Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70832942C>A" "" "likely benign" "" "0000558982" "0" "30" "16" "70867931" "70867931" "subst" "0.00107813" "01943" "HYDIN_000006" "g.70867931C>T" "" "" "" "HYDIN(NM_001270974.1):c.13538G>A (p.(Arg4513His)), HYDIN(NM_001270974.2):c.13538G>A (p.R4513H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70834028C>T" "" "likely benign" "" "0000558983" "0" "50" "16" "70871607" "70871608" "dup" "0" "01943" "HYDIN_000077" "g.70871607_70871608dup" "" "" "" "HYDIN(NM_001270974.2):c.13228_13229dupGG (p.T4411Vfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70837704_70837705dup" "" "VUS" "" "0000558984" "0" "50" "16" "70884439" "70884439" "subst" "0" "01943" "HYDIN_000078" "g.70884439G>A" "" "" "" "HYDIN(NM_001270974.2):c.12563C>T (p.T4188I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70850536G>A" "" "VUS" "" "0000558985" "0" "50" "16" "70891647" "70891647" "subst" "5.27992E-5" "01943" "HYDIN_000079" "g.70891647G>C" "" "" "" "HYDIN(NM_001270974.2):c.12256C>G (p.L4086V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70857744G>C" "" "VUS" "" "0000558986" "0" "50" "16" "70897087" "70897087" "subst" "0" "02329" "HYDIN_000017" "g.70897087T>C" "" "" "" "HYDIN(NM_001270974.2):c.11472-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70863184T>C" "" "VUS" "" "0000558987" "0" "50" "16" "70913529" "70913529" "subst" "0" "01804" "HYDIN_000080" "g.70913529G>C" "" "" "" "HYDIN(NM_001270974.1):c.10346C>G (p.(Ala3449Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70879626G>C" "" "VUS" "" "0000558992" "0" "30" "16" "70975575" "70975575" "subst" "0.00401605" "01804" "HYDIN_000085" "g.70975575T>C" "" "" "" "HYDIN(NM_001270974.1):c.6817A>G (p.(Met2273Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70941672T>C" "" "likely benign" "" "0000558993" "0" "30" "16" "70975667" "70975667" "subst" "0" "01804" "HYDIN_000086" "g.70975667T>C" "" "" "" "HYDIN(NM_001270974.1):c.6725A>G (p.(Gln2242Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70941764T>C" "" "likely benign" "" "0000558995" "0" "50" "16" "70986510" "70986511" "dup" "0" "01943" "HYDIN_000088" "g.70986510_70986511dup" "" "" "" "HYDIN(NM_001270974.2):c.6344_6345dupTC (p.I2116Sfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70952607_70952608dup" "" "VUS" "" "0000558997" "0" "50" "16" "70993631" "70993631" "subst" "0" "01943" "HYDIN_000090" "g.70993631C>T" "" "" "" "HYDIN(NM_001270974.2):c.6061G>A (p.G2021S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70959728C>T" "" "VUS" "" "0000558998" "0" "30" "16" "70993639" "70993639" "subst" "0" "01804" "HYDIN_000091" "g.70993639C>T" "" "" "" "HYDIN(NM_001270974.1):c.6053G>A (p.(Arg2018His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70959736C>T" "" "likely benign" "" "0000558999" "0" "30" "16" "70995975" "70995975" "subst" "0.0137859" "01804" "HYDIN_000092" "g.70995975C>T" "" "" "" "HYDIN(NM_001270974.1):c.5855G>A (p.(Arg1952Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70962072C>T" "" "likely benign" "" "0000559000" "0" "50" "16" "70998745" "70998745" "subst" "0" "02329" "HYDIN_000093" "g.70998745G>A" "" "" "" "HYDIN(NM_001270974.2):c.5674C>T (p.R1892C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70964842G>A" "" "VUS" "" "0000559001" "0" "50" "16" "70998748" "70998748" "del" "0" "02329" "HYDIN_000094" "g.70998748del" "" "" "" "HYDIN(NM_001270974.2):c.5674delC (p.R1892Afs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70964845del" "" "VUS" "" "0000559002" "0" "50" "16" "70998781" "70998781" "subst" "0" "01943" "HYDIN_000095" "g.70998781C>T" "" "" "" "HYDIN(NM_001270974.2):c.5638G>A (p.G1880S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70964878C>T" "" "VUS" "" "0000559003" "0" "30" "16" "71007853" "71007853" "subst" "3.66426E-5" "01943" "HYDIN_000096" "g.71007853C>T" "" "" "" "HYDIN(NM_001270974.2):c.5108G>A (p.R1703H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70973950C>T" "" "likely benign" "" "0000559004" "0" "30" "16" "71012855" "71012855" "subst" "0" "01804" "HYDIN_000097" "g.71012855T>C" "" "" "" "HYDIN(NM_001270974.1):c.4600A>G (p.(Ile1534Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70978952T>C" "" "likely benign" "" "0000559005" "0" "50" "16" "71015341" "71015341" "subst" "0" "01943" "HYDIN_000098" "g.71015341T>C" "" "" "" "HYDIN(NM_001270974.2):c.4463A>G (p.E1488G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70981438T>C" "" "VUS" "" "0000559008" "0" "30" "16" "71054116" "71054116" "subst" "0.00302654" "01804" "HYDIN_000100" "g.71054116T>C" "" "" "" "HYDIN(NM_001270974.1):c.3291A>G (p.(Ile1097Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71020213T>C" "" "likely benign" "" "0000559011" "0" "50" "16" "71103339" "71103339" "subst" "2.05931E-5" "01804" "HYDIN_000102" "g.71103339C>T" "" "" "" "HYDIN(NM_001198542.1):c.1886G>A (p.(Arg629His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71069436C>T" "" "VUS" "" "0000559012" "0" "30" "16" "71113814" "71113814" "subst" "0.000901432" "01804" "HYDIN_000103" "g.71113814G>C" "" "" "" "HYDIN(NM_001198542.1):c.1793C>G (p.(Ala598Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71079911G>C" "" "likely benign" "" "0000559013" "0" "30" "16" "71149617" "71149617" "subst" "0.000235619" "01804" "HYDIN_000104" "g.71149617T>C" "" "" "" "HYDIN(NM_001198542.1):c.1390A>G (p.(Ile464Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71115714T>C" "" "likely benign" "" "0000559015" "0" "30" "16" "71171142" "71171142" "subst" "0.000738591" "01804" "HYDIN_000106" "g.71171142T>C" "" "" "" "HYDIN(NM_001198542.1):c.1036A>G (p.(Ile346Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71137239T>C" "" "likely benign" "" "0000559018" "0" "70" "16" "71209539" "71209539" "subst" "0" "01804" "HYDIN_000107" "g.71209539G>A" "" "" "" "HYDIN(NM_001198542.1):c.568C>T (p.(Arg190Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71175636G>A" "" "likely pathogenic" "" "0000559021" "0" "30" "16" "71264557" "71264557" "subst" "0" "01804" "HYDIN_000110" "g.71264557C>T" "" "" "" "HYDIN(NM_001198542.1):c.34G>A (p.(Glu12Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71230654C>T" "" "likely benign" "" "0000616113" "0" "30" "16" "70852284" "70852284" "subst" "0.000893885" "01943" "HYDIN_000111" "g.70852284G>A" "" "" "" "HYDIN(NM_001270974.2):c.14619C>T (p.I4873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70818381G>A" "" "likely benign" "" "0000616114" "0" "50" "16" "70928377" "70928377" "subst" "0.0012112" "01943" "HYDIN_000113" "g.70928377G>A" "" "" "" "HYDIN(NM_001270974.1):c.9223C>T (p.(Arg3075Cys)), HYDIN(NM_001270974.2):c.9223C>T (p.R3075C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70894474G>A" "" "VUS" "" "0000616115" "0" "50" "16" "70928377" "70928377" "subst" "0.0012112" "01804" "HYDIN_000113" "g.70928377G>A" "" "" "" "HYDIN(NM_001270974.1):c.9223C>T (p.(Arg3075Cys)), HYDIN(NM_001270974.2):c.9223C>T (p.R3075C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70894474G>A" "" "VUS" "" "0000623516" "0" "50" "16" "70896090" "70896090" "subst" "0.00201158" "01943" "HYDIN_000112" "g.70896090C>T" "" "" "" "HYDIN(NM_001270974.2):c.11638G>A (p.D3880N, p.(Asp3880Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70862187C>T" "" "VUS" "" "0000623518" "0" "30" "16" "71103210" "71103210" "subst" "4.07418E-6" "01943" "HYDIN_000115" "g.71103210T>A" "" "" "" "HYDIN(NM_001270974.2):c.1934A>T (p.D645V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71069307T>A" "" "likely benign" "" "0000626466" "3" "90" "16" "71025300" "71025300" "subst" "2.03183E-5" "00006" "HYDIN_000116" "g.71025300C>A" "" "{PMID:Davidson 2013:23849777}" "" "" "variant linked to hearing loss" "Germline" "" "" "0" "" "" "g.70991397C>A" "" "pathogenic (recessive)" "" "0000649394" "1" "30" "16" "70843712" "70843712" "subst" "0.00433349" "03575" "HYDIN_000002" "g.70843712G>A" "67/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "67 heterozygous; {DB:CLININrs79607350}" "Germline" "" "rs79607350" "0" "" "" "g.70809809G>A" "" "likely benign" "" "0000649395" "1" "10" "16" "71220755" "71220755" "subst" "0.0394817" "03575" "HYDIN_000117" "g.71220755A>G" "137/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "137 heterozygous; {DB:CLININrs75270082}" "Germline" "" "rs75270082" "0" "" "" "g.71186852A>G" "" "benign" "" "0000657916" "0" "30" "16" "70873959" "70873962" "dup" "0" "01943" "HYDIN_000118" "g.70873959_70873962dup" "" "" "" "HYDIN(NM_001270974.2):c.13043+7_13043+10dupAGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70840056_70840059dup" "" "likely benign" "" "0000657918" "0" "30" "16" "70894781" "70894781" "subst" "0" "01804" "HYDIN_000120" "g.70894781T>C" "" "" "" "HYDIN(NM_001270974.1):c.11801A>G (p.(Glu3934Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70860878T>C" "" "likely benign" "" "0000657919" "0" "30" "16" "70917931" "70917931" "subst" "0.000676485" "01943" "HYDIN_000121" "g.70917931C>T" "" "" "" "HYDIN(NM_001270974.2):c.9871G>A (p.A3291T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70884028C>T" "" "likely benign" "" "0000657921" "0" "30" "16" "70954797" "70954797" "subst" "0.000916008" "01943" "HYDIN_000123" "g.70954797G>C" "" "" "" "HYDIN(NM_001270974.2):c.7482C>G (p.P2494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70920894G>C" "" "likely benign" "" "0000657922" "0" "50" "16" "70972596" "70972596" "subst" "0" "01943" "HYDIN_000124" "g.70972596C>T" "" "" "" "HYDIN(NM_001270974.2):c.6916G>A (p.E2306K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70938693C>T" "" "VUS" "" "0000657923" "0" "50" "16" "70989406" "70989406" "subst" "0.000507141" "01804" "HYDIN_000043" "g.70989406G>A" "" "" "" "HYDIN(NM_001270974.1):c.6188C>T (p.(Ala2063Val)), HYDIN(NM_001270974.2):c.6188C>T (p.A2063V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70955503G>A" "" "VUS" "" "0000657924" "0" "30" "16" "70989428" "70989428" "subst" "9.98911E-6" "01943" "HYDIN_000125" "g.70989428C>T" "" "" "" "HYDIN(NM_001270974.2):c.6166G>A (p.V2056M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70955525C>T" "" "likely benign" "" "0000657925" "0" "30" "16" "70995976" "70995976" "subst" "0" "01804" "HYDIN_000126" "g.70995976G>C" "" "" "" "HYDIN(NM_001270974.1):c.5854C>G (p.(Arg1952Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70962073G>C" "" "likely benign" "" "0000657926" "0" "30" "16" "71220668" "71220668" "subst" "0.00349521" "01943" "HYDIN_000127" "g.71220668C>T" "" "" "" "HYDIN(NM_001270974.2):c.131G>A (p.R44Q, p.(Arg44Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71186765C>T" "" "likely benign" "" "0000669350" "3" "30" "16" "70843712" "70843712" "subst" "0.00433349" "03575" "HYDIN_000002" "g.70843712G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs79607350}" "Germline" "" "rs79607350" "0" "" "" "g.70809809G>A" "" "likely benign" "" "0000669351" "3" "10" "16" "71220755" "71220755" "subst" "0.0394817" "03575" "HYDIN_000117" "g.71220755A>G" "5/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs75270082}" "Germline" "" "rs75270082" "0" "" "" "g.71186852A>G" "" "benign" "" "0000675089" "0" "50" "16" "70896078" "70896078" "subst" "1.22224E-5" "00006" "HYDIN_000128" "g.70896078C>T" "" "{PMID:Pannone 2020:32721402}, {DOI:Pannone 2020:10.1016/j.ajhg.2020.06.018}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000692122" "0" "30" "16" "70889114" "70889114" "subst" "0.000792892" "01943" "HYDIN_000011" "g.70889114G>T" "" "" "" "HYDIN(NM_001270974.1):c.12360C>A (p.(Phe4120Leu)), HYDIN(NM_001270974.2):c.12360C>A (p.F4120L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692123" "0" "50" "16" "70929967" "70929967" "subst" "8.56821E-5" "01943" "HYDIN_000129" "g.70929967T>C" "" "" "" "HYDIN(NM_001270974.2):c.9065A>G (p.N3022S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692124" "0" "30" "16" "71054161" "71054161" "subst" "9.75927E-5" "01943" "HYDIN_000130" "g.71054161G>A" "" "" "" "HYDIN(NM_001270974.2):c.3246C>T (p.T1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692125" "0" "30" "16" "71103289" "71103289" "subst" "0.00136695" "01943" "HYDIN_000131" "g.71103289G>A" "" "" "" "HYDIN(NM_001270974.2):c.1855C>T (p.H619Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692126" "0" "50" "16" "71163691" "71163691" "subst" "0" "01943" "HYDIN_000132" "g.71163691T>C" "" "" "" "HYDIN(NM_001270974.2):c.1079A>G (p.E360G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725935" "0" "30" "16" "70843794" "70843794" "subst" "1.21834E-5" "01943" "HYDIN_000133" "g.70843794T>G" "" "" "" "HYDIN(NM_001270974.2):c.14775A>C (p.P4925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725936" "0" "70" "16" "70852263" "70852263" "dup" "0" "02329" "HYDIN_000134" "g.70852263dup" "" "" "" "HYDIN(NM_001270974.2):c.14641dupG (p.V4881Gfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725937" "0" "50" "16" "70852334" "70852334" "subst" "0.000145496" "01943" "HYDIN_000135" "g.70852334G>T" "" "" "" "HYDIN(NM_001270974.2):c.14569C>A (p.P4857T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725938" "0" "70" "16" "70894062" "70894062" "subst" "0" "02329" "HYDIN_000136" "g.70894062C>T" "" "" "" "HYDIN(NM_001270974.2):c.12038G>A (p.W4013*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725939" "0" "50" "16" "70894592" "70894592" "subst" "3.91727E-5" "01943" "HYDIN_000137" "g.70894592C>T" "" "" "" "HYDIN(NM_001270974.2):c.11990G>A (p.R3997Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725940" "0" "30" "16" "70896090" "70896090" "subst" "0.00201158" "02326" "HYDIN_000112" "g.70896090C>T" "" "" "" "HYDIN(NM_001270974.2):c.11638G>A (p.D3880N, p.(Asp3880Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725941" "0" "30" "16" "70934922" "70934922" "subst" "2.75131E-5" "01943" "HYDIN_000138" "g.70934922C>T" "" "" "" "HYDIN(NM_001270974.2):c.9033G>A (p.K3011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725942" "0" "50" "16" "70954909" "70954909" "subst" "0.000946569" "01943" "HYDIN_000139" "g.70954909A>G" "" "" "" "HYDIN(NM_001270974.2):c.7370T>C (p.F2457S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725943" "0" "50" "16" "70977716" "70977716" "subst" "0" "01943" "HYDIN_000140" "g.70977716T>C" "" "" "" "HYDIN(NM_001270974.2):c.6668A>G (p.Q2223R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725944" "0" "30" "16" "71008480" "71008480" "subst" "2.0787E-5" "01943" "HYDIN_000141" "g.71008480A>G" "" "" "" "HYDIN(NM_001270974.2):c.4866T>C (p.F1622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725945" "0" "90" "16" "71059297" "71059297" "subst" "0" "01943" "HYDIN_000142" "g.71059297G>A" "" "" "" "HYDIN(NM_001270974.2):c.3175C>T (p.R1059*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725946" "0" "50" "16" "71094568" "71094568" "subst" "0" "02329" "HYDIN_000143" "g.71094568C>T" "" "" "" "HYDIN(NM_001270974.2):c.2377-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725947" "0" "30" "16" "71212896" "71212896" "subst" "8.14133E-6" "01943" "HYDIN_000144" "g.71212896T>C" "" "" "" "HYDIN(NM_001270974.2):c.316A>G (p.I106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725948" "0" "70" "16" "71212917" "71212917" "subst" "0" "02329" "HYDIN_000145" "g.71212917G>A" "" "" "" "HYDIN(NM_001270974.2):c.295C>T (p.Q99*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725949" "0" "30" "16" "71218900" "71218900" "subst" "5.54362E-5" "01943" "HYDIN_000146" "g.71218900T>A" "" "" "" "HYDIN(NM_001270974.2):c.136-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786665" "1" "50" "16" "71022399" "71022399" "subst" "0" "00006" "HYDIN_000147" "g.71022399G>C" "" "{PMID:Lefebvre 2021:32732226}" "" "" "non-concordant phenotype" "Germline" "" "" "0" "" "" "g.70988496G>C" "" "VUS" "" "0000786680" "2" "50" "16" "71052311" "71052311" "subst" "0" "00006" "HYDIN_000055" "g.71052311A>G" "" "{PMID:Lefebvre 2021:32732226}" "" "" "non-concordant phenotype" "Germline" "" "" "0" "" "" "g.71018408A>G" "" "VUS" "" "0000807566" "0" "30" "16" "70852389" "70852389" "subst" "3.74069E-5" "01943" "HYDIN_000148" "g.70852389G>A" "" "" "" "HYDIN(NM_001270974.2):c.14514C>T (p.I4838=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807567" "0" "30" "16" "70883750" "70883750" "subst" "2.03616E-5" "01943" "HYDIN_000149" "g.70883750A>G" "" "" "" "HYDIN(NM_001270974.2):c.12752T>C (p.L4251P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807568" "0" "90" "16" "70884377" "70884377" "subst" "0" "01943" "HYDIN_000150" "g.70884377G>A" "" "" "" "HYDIN(NM_001270974.2):c.12625C>T (p.Q4209*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807569" "0" "30" "16" "70891771" "70891771" "subst" "3.66644E-5" "01943" "HYDIN_000151" "g.70891771G>A" "" "" "" "HYDIN(NM_001270974.2):c.12132C>T (p.I4044=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807570" "0" "30" "16" "70902515" "70902515" "subst" "0.000126124" "01943" "HYDIN_000152" "g.70902515G>A" "" "" "" "HYDIN(NM_001270974.2):c.11268C>T (p.D3756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807571" "0" "30" "16" "70908251" "70908251" "subst" "0" "01943" "HYDIN_000153" "g.70908251G>A" "" "" "" "HYDIN(NM_001270974.2):c.10905C>T (p.F3635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807573" "0" "90" "16" "70925786" "70925793" "dup" "0" "02329" "HYDIN_000154" "g.70925786_70925793dup" "" "" "" "HYDIN(NM_001270974.2):c.9420_9421insTTTAGATT (p.I3141Ffs*44)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807574" "0" "90" "16" "70935052" "70935052" "subst" "4.09092E-6" "02329" "HYDIN_000155" "g.70935052C>T" "" "" "" "HYDIN(NM_001270974.2):c.8903G>A (p.W2968*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807575" "0" "90" "16" "70937809" "70937809" "del" "5.50995E-5" "01943" "HYDIN_000156" "g.70937809del" "" "" "" "HYDIN(NM_001270974.2):c.8675delA (p.Q2892Rfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807576" "0" "50" "16" "70937810" "70937810" "subst" "5.49995E-5" "01943" "HYDIN_000157" "g.70937810G>C" "" "" "" "HYDIN(NM_001270974.2):c.8674C>G (p.Q2892E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807577" "0" "30" "16" "70969871" "70969871" "subst" "0" "01943" "HYDIN_000158" "g.70969871T>G" "" "" "" "HYDIN(NM_001270974.2):c.7142A>C (p.Q2381P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807578" "0" "30" "16" "70972531" "70972531" "subst" "0.000309536" "01943" "HYDIN_000159" "g.70972531G>A" "" "" "" "HYDIN(NM_001270974.2):c.6981C>T (p.R2327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807579" "0" "30" "16" "70977754" "70977754" "subst" "3.6846E-5" "01943" "HYDIN_000160" "g.70977754C>T" "" "" "" "HYDIN(NM_001270974.2):c.6630G>A (p.P2210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807580" "0" "50" "16" "70998647" "70998647" "subst" "0" "01943" "HYDIN_000161" "g.70998647A>T" "" "" "" "HYDIN(NM_001270974.2):c.5772T>A (p.N1924K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807581" "0" "30" "16" "71096189" "71096189" "subst" "0.00014413" "01943" "HYDIN_000162" "g.71096189G>A" "" "" "" "HYDIN(NM_001270974.2):c.2259C>T (p.S753=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854612" "0" "50" "16" "70862193" "70862193" "subst" "0" "01943" "HYDIN_000072" "g.70862193G>A" "" "" "" "HYDIN(NM_001270974.1):c.14252C>T (p.(Thr4751Ile)), HYDIN(NM_001270974.2):c.14252C>T (p.T4751I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854613" "0" "50" "16" "70884561" "70884561" "subst" "0" "02329" "HYDIN_000165" "g.70884561G>C" "" "" "" "HYDIN(NM_001270974.2):c.12444-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854614" "0" "50" "16" "70917997" "70917997" "subst" "0" "01943" "HYDIN_000170" "g.70917997A>C" "" "" "" "HYDIN(NM_001270974.2):c.9805T>G (p.Y3269D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854615" "0" "30" "16" "70923597" "70923597" "subst" "0" "01943" "HYDIN_000171" "g.70923597C>T" "" "" "" "HYDIN(NM_001270974.2):c.9667G>A (p.V3223I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854616" "0" "90" "16" "70937809" "70937809" "del" "5.50995E-5" "02329" "HYDIN_000156" "g.70937809del" "" "" "" "HYDIN(NM_001270974.2):c.8675delA (p.Q2892Rfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854617" "0" "30" "16" "70954944" "70954944" "subst" "0" "01943" "HYDIN_000174" "g.70954944G>C" "" "" "" "HYDIN(NM_001270974.2):c.7335C>G (p.N2445K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854618" "0" "90" "16" "70977714" "70977714" "subst" "2.88346E-5" "02329" "HYDIN_000175" "g.70977714C>T" "" "" "" "HYDIN(NM_001270974.2):c.6669+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854619" "0" "50" "16" "71025240" "71025240" "del" "0" "02329" "HYDIN_000177" "g.71025240del" "" "" "" "HYDIN(NM_001270974.2):c.3845delC (p.A1282Vfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854620" "0" "30" "16" "71052084" "71052084" "subst" "0" "01943" "HYDIN_000178" "g.71052084C>T" "" "" "" "HYDIN(NM_001270974.2):c.3592G>A (p.V1198I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854621" "0" "30" "16" "71061573" "71061573" "subst" "0.000719754" "01943" "HYDIN_000058" "g.71061573C>T" "" "" "" "HYDIN(NM_001198542.1):c.*4005G>A (p.(=)), HYDIN(NM_001270974.2):c.2974G>A (p.A992T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854622" "0" "50" "16" "71061591" "71061591" "subst" "0.00053701" "01943" "HYDIN_000101" "g.71061591C>T" "" "" "" "HYDIN(NM_001270974.2):c.2956G>A (p.V986M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854623" "0" "30" "16" "71098632" "71098632" "subst" "8.13498E-6" "01943" "HYDIN_000180" "g.71098632T>C" "" "" "" "HYDIN(NM_001270974.2):c.2187A>G (p.P729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854624" "0" "50" "16" "71171232" "71171232" "subst" "0" "01943" "HYDIN_000181" "g.71171232A>G" "" "" "" "HYDIN(NM_001270974.2):c.865T>C (p.Y289H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864915" "0" "50" "16" "70852465" "70852465" "subst" "7.3641E-5" "01943" "HYDIN_000163" "g.70852465C>T" "" "" "" "HYDIN(NM_001270974.2):c.14438G>A (p.R4813Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864916" "0" "50" "16" "70874110" "70874110" "subst" "0.00109069" "01943" "HYDIN_000164" "g.70874110G>A" "" "" "" "HYDIN(NM_001270974.2):c.12900C>T (p.C4300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864917" "0" "50" "16" "70874111" "70874111" "subst" "0.00107079" "01943" "HYDIN_000008" "g.70874111C>G" "" "" "" "HYDIN(NM_001270974.1):c.12899G>C (p.(Cys4300Ser)), HYDIN(NM_001270974.2):c.12899G>C (p.C4300S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864918" "0" "30" "16" "70900080" "70900080" "subst" "0.00157813" "01943" "HYDIN_000166" "g.70900080T>G" "" "" "" "HYDIN(NM_001270974.2):c.11463A>C (p.R3821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864919" "0" "30" "16" "70900199" "70900199" "subst" "0.00132687" "01943" "HYDIN_000167" "g.70900199C>T" "" "" "" "HYDIN(NM_001270974.2):c.11344G>A (p.V3782I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864920" "0" "30" "16" "70906092" "70906092" "subst" "0.00156161" "01943" "HYDIN_000168" "g.70906092A>G" "" "" "" "HYDIN(NM_001270974.2):c.10949-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864921" "0" "30" "16" "70908728" "70908728" "subst" "0.00155049" "01943" "HYDIN_000169" "g.70908728T>C" "" "" "" "HYDIN(NM_001270974.2):c.10652A>G (p.H3551R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864922" "0" "50" "16" "70952311" "70952311" "subst" "0.000102069" "01943" "HYDIN_000172" "g.70952311C>T" "" "" "" "HYDIN(NM_001270974.2):c.7807G>A (p.G2603S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864923" "0" "50" "16" "70954687" "70954687" "subst" "0.000600738" "01943" "HYDIN_000173" "g.70954687G>A" "" "" "" "HYDIN(NM_001270974.1):c.7592C>T (p.(Ala2531Val)), HYDIN(NM_001270974.2):c.7592C>T (p.A2531V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864924" "0" "50" "16" "71008123" "71008123" "subst" "0.000253474" "01943" "HYDIN_000176" "g.71008123C>A" "" "" "" "HYDIN(NM_001270974.2):c.4990G>T (p.G1664W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864925" "0" "30" "16" "71061688" "71061688" "subst" "0.000729313" "01943" "HYDIN_000179" "g.71061688C>T" "" "" "" "HYDIN(NM_001270974.2):c.2859G>A (p.Q953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893162" "0" "50" "16" "70925789" "70925789" "subst" "0" "02329" "HYDIN_000028" "g.70925789T>C" "" "" "" "HYDIN(NM_001270974.2):c.9418-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893163" "0" "50" "16" "70928377" "70928377" "subst" "0.0012112" "02329" "HYDIN_000113" "g.70928377G>A" "" "" "" "HYDIN(NM_001270974.1):c.9223C>T (p.(Arg3075Cys)), HYDIN(NM_001270974.2):c.9223C>T (p.R3075C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893164" "0" "50" "16" "70928407" "70928407" "subst" "4.13353E-6" "02325" "HYDIN_000182" "g.70928407C>T" "" "" "" "HYDIN(NM_001270974.2):c.9193G>A (p.E3065K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893165" "0" "50" "16" "70954747" "70954747" "subst" "0.000113881" "02329" "HYDIN_000183" "g.70954747C>T" "" "" "" "HYDIN(NM_001270974.2):c.7532G>A (p.R2511Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893166" "0" "50" "16" "70954787" "70954787" "subst" "6.29633E-5" "02329" "HYDIN_000184" "g.70954787G>A" "" "" "" "HYDIN(NM_001270974.2):c.7492C>T (p.R2498C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893167" "0" "50" "16" "71127770" "71127770" "subst" "0.000337149" "02325" "HYDIN_000185" "g.71127770C>T" "" "" "" "HYDIN(NM_001270974.2):c.1396G>A (p.E466K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893168" "0" "50" "16" "71218830" "71218830" "subst" "4.07256E-6" "02329" "HYDIN_000186" "g.71218830G>T" "" "" "" "HYDIN(NM_001270974.2):c.199C>A (p.R67S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000902222" "1" "90" "16" "70993725" "70993725" "subst" "4.22761E-6" "04416" "HYDIN_000190" "g.70993725T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70959822T>C" "" "likely pathogenic" "" "0000902223" "2" "90" "16" "70989277" "70989277" "subst" "0" "04416" "HYDIN_000189" "g.70989277C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70955374C>T" "" "likely pathogenic" "" "0000902224" "0" "70" "16" "70925698" "70925698" "subst" "0" "04416" "HYDIN_000188" "g.70925698G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70891795G>C" "" "likely benign" "" "0000902225" "2" "70" "16" "70863552" "70863552" "subst" "0.00016557" "04416" "HYDIN_000187" "g.70863552C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70829649C>T" "" "likely pathogenic (recessive)" "" "0000926341" "0" "50" "16" "70954796" "70954796" "subst" "0.000301748" "02325" "HYDIN_000191" "g.70954796C>T" "" "" "" "HYDIN(NM_001270974.2):c.7483G>A (p.D2495N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926342" "0" "50" "16" "71015374" "71015374" "subst" "0" "02325" "HYDIN_000192" "g.71015374T>C" "" "" "" "HYDIN(NM_001270974.2):c.4430A>G (p.H1477R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950718" "0" "50" "16" "70852297" "70852297" "subst" "4.48526E-5" "02325" "HYDIN_000193" "g.70852297C>T" "" "" "" "HYDIN(NM_001270974.2):c.14606G>A (p.R4869Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950719" "0" "50" "16" "70874111" "70874111" "subst" "0.00107079" "02325" "HYDIN_000008" "g.70874111C>G" "" "" "" "HYDIN(NM_001270974.1):c.12899G>C (p.(Cys4300Ser)), HYDIN(NM_001270974.2):c.12899G>C (p.C4300S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950720" "0" "70" "16" "70883687" "70883687" "del" "0" "02329" "HYDIN_000194" "g.70883687del" "" "" "" "HYDIN(NM_001270974.2):c.12817delC (p.L4273Cfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950721" "0" "50" "16" "70941378" "70941378" "subst" "0" "02329" "HYDIN_000195" "g.70941378G>A" "" "" "" "HYDIN(NM_001270974.2):c.8413C>T (p.R2805W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950722" "0" "50" "16" "70977769" "70977769" "subst" "1.22802E-5" "02325" "HYDIN_000196" "g.70977769C>T" "" "" "" "HYDIN(NM_001270974.2):c.6615G>A (p.M2205I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950723" "0" "50" "16" "71163680" "71163680" "dup" "0" "02329" "HYDIN_000197" "g.71163680dup" "" "" "" "HYDIN(NM_001270974.2):c.1095dupT (p.E366*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968481" "0" "50" "16" "70916706" "70916706" "subst" "0.00096671" "02325" "HYDIN_000198" "g.70916706C>T" "" "" "" "HYDIN(NM_001270974.2):c.10072G>A (p.G3358R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968487" "0" "50" "16" "71094424" "71094424" "subst" "1.57257E-5" "02327" "HYDIN_000202" "g.71094424A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982030" "0" "30" "16" "70843810" "70843810" "subst" "0" "01804" "HYDIN_000204" "g.70843810T>G" "" "" "" "HYDIN(NM_001270974.2):c.14759A>C (p.(Tyr4920Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982031" "0" "30" "16" "70852240" "70852240" "subst" "0.000301225" "01804" "HYDIN_000205" "g.70852240C>T" "" "" "" "HYDIN(NM_001270974.2):c.14658+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982032" "0" "30" "16" "70852360" "70852360" "subst" "0.000660329" "01804" "HYDIN_000206" "g.70852360G>A" "" "" "" "HYDIN(NM_001270974.2):c.14543C>T (p.(Ala4848Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982034" "0" "30" "16" "70896090" "70896090" "subst" "0.00201158" "01804" "HYDIN_000112" "g.70896090C>T" "" "" "" "HYDIN(NM_001270974.2):c.11638G>A (p.D3880N, p.(Asp3880Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982035" "0" "30" "16" "70905984" "70905984" "subst" "0.000822774" "01804" "HYDIN_000025" "g.70905984G>A" "" "" "" "HYDIN(NM_001270974.2):c.11047C>T (p.R3683W, p.(Arg3683Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982036" "0" "30" "16" "70954598" "70954600" "del" "0" "01804" "HYDIN_000208" "g.70954598_70954600del" "" "" "" "HYDIN(NM_001270974.2):c.7681_7683del (p.(Glu2561del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982037" "0" "50" "16" "71015477" "71015477" "subst" "0.000102805" "01804" "HYDIN_000209" "g.71015477C>T" "" "" "" "HYDIN(NM_001270974.2):c.4333-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982038" "0" "30" "16" "71094569" "71094569" "subst" "0.000103567" "01804" "HYDIN_000210" "g.71094569G>A" "" "" "" "HYDIN(NM_001270974.2):c.2377-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982039" "0" "50" "16" "71096077" "71096077" "subst" "0" "01804" "HYDIN_000211" "g.71096077G>C" "" "" "" "HYDIN(NM_001270974.2):c.2371C>G (p.(Pro791Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982040" "0" "30" "16" "71220668" "71220668" "subst" "0.00349521" "01804" "HYDIN_000127" "g.71220668C>T" "" "" "" "HYDIN(NM_001270974.2):c.131G>A (p.R44Q, p.(Arg44Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002533" "0" "50" "16" "70894066" "70894066" "subst" "3.55521E-5" "01804" "HYDIN_000212" "g.70894066A>G" "" "" "" "HYDIN(NM_001270974.1):c.12034T>C (p.(Cys4012Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002534" "0" "30" "16" "70954687" "70954687" "subst" "0.000600738" "01804" "HYDIN_000173" "g.70954687G>A" "" "" "" "HYDIN(NM_001270974.1):c.7592C>T (p.(Ala2531Val)), HYDIN(NM_001270974.2):c.7592C>T (p.A2531V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002535" "0" "70" "16" "71103407" "71103407" "subst" "0" "01804" "HYDIN_000213" "g.71103407T>C" "" "" "" "HYDIN(NM_001270974.1):c.1739-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001010075" "10" "90" "16" "70866850" "70866850" "del" "0" "00006" "HYDIN_000214" "g.70866850del" "" "{PMID:Burgoyne 2024:39291810}" "" "13801delG" "significantly reduced expression" "Germline" "" "rs752405406" "0" "" "" "g.70832947del" "" "pathogenic (recessive)" "" "0001010076" "3" "90" "16" "71103347" "71103347" "subst" "0.000412725" "00006" "HYDIN_000216" "g.71103347G>C" "" "{PMID:Burgoyne 2024:39291810}" "" "" "" "Germline" "" "rs760517494" "0" "" "" "g.71069444G>C" "" "pathogenic (recessive)" "" "0001010077" "3" "90" "16" "71103347" "71103347" "subst" "0.000412725" "00006" "HYDIN_000216" "g.71103347G>C" "" "{PMID:Burgoyne 2024:39291810}" "" "" "" "Germline" "" "rs760517494" "0" "" "" "g.71069444G>C" "" "pathogenic (recessive)" "" "0001010078" "3" "90" "16" "71103347" "71103347" "subst" "0.000412725" "00006" "HYDIN_000216" "g.71103347G>C" "" "{PMID:Burgoyne 2024:39291810}" "" "" "" "Germline" "" "rs760517494" "0" "" "" "g.71069444G>C" "" "pathogenic (recessive)" "" "0001010079" "21" "70" "16" "70874111" "70874111" "subst" "0.00107079" "00006" "HYDIN_000008" "g.70874111C>G" "" "{PMID:Burgoyne 2024:39291810}" "" "" "significantly reduced expression" "Germline" "" "rs200169224" "0" "" "" "g.70840208C>G" "" "likely pathogenic (recessive)" "" "0001010080" "10" "50" "16" "70866850" "70866850" "subst" "0.000103467" "00006" "HYDIN_000215" "g.70866850C>G" "" "{PMID:Burgoyne 2024:39291810}" "" "" "significantly reduced expression" "Germline" "" "rs751812896" "0" "" "" "g.70832947C>G" "" "VUS" "" "0001010081" "21" "10" "16" "71054116" "71054116" "subst" "0.00302654" "00006" "HYDIN_000100" "g.71054116T>C" "" "{PMID:Burgoyne 2024:39291810}" "" "" "" "Germline" "" "rs183427172" "0" "" "" "g.71020213T>C" "" "benign" "" "0001026754" "0" "50" "16" "70866783" "70866783" "subst" "0" "02329" "HYDIN_000217" "g.70866783C>A" "" "" "" "HYDIN(NM_001270974.2):c.13867G>T (p.G4623*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026755" "0" "50" "16" "70942195" "70942195" "subst" "0" "02329" "HYDIN_000219" "g.70942195G>A" "" "" "" "HYDIN(NM_001270974.2):c.8356C>T (p.R2786*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026756" "0" "90" "16" "70977714" "70977714" "subst" "2.88346E-5" "02325" "HYDIN_000175" "g.70977714C>T" "" "" "" "HYDIN(NM_001270974.2):c.6669+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027593" "1" "30" "16" "71171094" "71171094" "subst" "7.92959E-5" "00006" "HYDIN_000220" "g.71171094C>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.71137191C>A" "" "likely benign" "" "0001027594" "1" "30" "16" "71171094" "71171094" "subst" "7.92959E-5" "00006" "HYDIN_000220" "g.71171094C>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.71137191C>A" "" "likely benign" "" "0001027605" "2" "70" "16" "70925567" "70925567" "subst" "0" "00006" "HYDIN_000218" "g.70925567G>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.70891664G>C" "" "likely pathogenic (recessive)" "" "0001027606" "2" "70" "16" "70925567" "70925567" "subst" "0" "00006" "HYDIN_000218" "g.70925567G>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.70891664G>C" "" "likely pathogenic (recessive)" "" "0001027683" "0" "30" "16" "70902610" "70902610" "subst" "0" "00006" "HYDIN_000024" "g.70902610G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs79417681" "0" "" "" "g.70868707G>A" "" "likely benign" "" "0001041313" "0" "70" "16" "70862263" "70862264" "dup" "0" "01804" "HYDIN_000221" "g.70862263_70862264dup" "" "" "" "HYDIN(NM_001270974.2):c.14183_14184dup (p.(Lys4729Profs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041314" "0" "30" "16" "70863682" "70863682" "subst" "0" "01804" "HYDIN_000222" "g.70863682G>C" "" "" "" "HYDIN(NM_001270974.2):c.13951C>G (p.(Leu4651Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041315" "0" "50" "16" "70867880" "70867880" "subst" "0.000186802" "01804" "HYDIN_000223" "g.70867880T>A" "" "" "" "HYDIN(NM_001270974.2):c.13589A>T (p.(Asp4530Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041316" "0" "50" "16" "70908238" "70908238" "subst" "8.14326E-6" "01804" "HYDIN_000224" "g.70908238C>T" "" "" "" "HYDIN(NM_001270974.2):c.10918G>A (p.(Glu3640Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041317" "0" "30" "16" "71019149" "71019149" "subst" "0" "01804" "HYDIN_000225" "g.71019149G>T" "" "" "" "HYDIN(NM_001270974.2):c.4271C>A (p.(Thr1424Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041319" "0" "50" "16" "71113854" "71113856" "del" "0" "01804" "HYDIN_000226" "g.71113854_71113856del" "" "" "" "HYDIN(NM_001270974.2):c.1671_1673del (p.(Arg557_Gly558delinsSer))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041320" "0" "70" "16" "71212953" "71212953" "subst" "0" "01804" "HYDIN_000227" "g.71212953T>C" "" "" "" "HYDIN(NM_001270974.2):c.262-3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 HYDIN ## Count = 236 "{{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}}" "0000038996" "00023973" "50" "5767" "0" "5767" "0" "c.5767G>A" "r.(?)" "p.(Glu1923Lys)" "" "0000253668" "00023973" "10" "11712" "0" "11712" "0" "c.11712del" "r.(?)" "p.(Gln3905ArgfsTer5)" "" "0000254524" "00023973" "30" "8063" "0" "8063" "0" "c.8063T>A" "r.(?)" "p.(Ile2688Lys)" "" "0000256209" "00023973" "50" "3365" "0" "3365" "0" "c.3365T>C" "r.(?)" "p.(Leu1122Pro)" "" "0000256610" "00023973" "50" "11498" "0" "11498" "0" "c.11498T>C" "r.(?)" "p.(Val3833Ala)" "" "0000256622" "00023973" "50" "2051" "0" "2051" "0" "c.2051T>C" "r.(?)" "p.(Val684Ala)" "" "0000281457" "00023973" "10" "2075" "355" "2075" "355" "c.2075+355A>G" "r.(=)" "p.(=)" "" "0000281458" "00023973" "10" "6917" "0" "6917" "0" "c.6917A>G" "r.(?)" "p.(Glu2306Gly)" "" "0000281459" "00023973" "10" "7364" "0" "7364" "0" "c.7364C>A" "r.(?)" "p.(Pro2455Gln)" "" "0000289279" "00023973" "30" "10405" "0" "10405" "0" "c.10405G>A" "r.(?)" "p.(Ala3469Thr)" "" "0000289280" "00023973" "30" "11047" "0" "11047" "0" "c.11047C>T" "r.(?)" "p.(Arg3683Trp)" "" "0000289281" "00023973" "50" "1105" "0" "1105" "0" "c.1105A>G" "r.(?)" "p.(Ile369Val)" "" "0000289282" "00023973" "30" "11173" "0" "11173" "0" "c.11173C>T" "r.(?)" "p.(Arg3725Trp)" "" "0000289283" "00023973" "30" "11226" "0" "11226" "0" "c.11226C>G" "r.(?)" "p.(Val3742=)" "" "0000289284" "00023973" "10" "11256" "0" "11256" "0" "c.11256C>G" "r.(?)" "p.(Val3752=)" "" "0000289285" "00023973" "50" "11269" "0" "11269" "0" "c.11269G>A" "r.(?)" "p.(Val3757Ile)" "" "0000289286" "00023973" "50" "11306" "0" "11306" "0" "c.11306G>A" "r.(?)" "p.(Arg3769Gln)" "" "0000289287" "00023973" "30" "11328" "0" "11328" "0" "c.11328G>A" "r.(?)" "p.(Pro3776=)" "" "0000289288" "00023973" "50" "11395" "0" "11395" "0" "c.11395G>T" "r.(?)" "p.(Asp3799Tyr)" "" "0000289289" "00023973" "50" "11472" "-2" "11472" "-2" "c.11472-2A>G" "r.spl?" "p.?" "" "0000289290" "00023973" "30" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383Gln)" "" "0000289291" "00023973" "30" "11931" "0" "11931" "0" "c.11931G>A" "r.(?)" "p.(Leu3977=)" "" "0000289292" "00023973" "50" "11979" "0" "11979" "0" "c.11979G>T" "r.(?)" "p.(Gly3993=)" "" "0000289293" "00023973" "30" "12349" "0" "12349" "0" "c.12349G>A" "r.(?)" "p.(Asp4117Asn)" "" "0000289294" "00023973" "30" "12360" "0" "12360" "0" "c.12360C>T" "r.(?)" "p.(Phe4120=)" "" "0000289295" "00023973" "30" "12402" "0" "12402" "0" "c.12402G>T" "r.(?)" "p.(Leu4134=)" "" "0000289296" "00023973" "30" "1266" "0" "1266" "0" "c.1266C>T" "r.(?)" "p.(Thr422=)" "" "0000289298" "00023973" "30" "13614" "0" "13614" "0" "c.13614C>G" "r.(?)" "p.(Pro4538=)" "" "0000289299" "00023973" "30" "14124" "0" "14124" "0" "c.14124C>T" "r.(?)" "p.(Phe4708=)" "" "0000289300" "00023973" "50" "14200" "0" "14200" "0" "c.14200A>G" "r.(?)" "p.(Ile4734Val)" "" "0000289301" "00023973" "30" "2177" "0" "2177" "0" "c.2177A>G" "r.(?)" "p.(Asp726Gly)" "" "0000289302" "00023973" "30" "2281" "0" "2281" "0" "c.2281A>T" "r.(?)" "p.(Thr761Ser)" "" "0000289303" "00023973" "30" "2284" "0" "2284" "0" "c.2284A>G" "r.(?)" "p.(Ile762Val)" "" "0000289304" "00023973" "30" "3018" "0" "3018" "0" "c.3018C>T" "r.(?)" "p.(Leu1006=)" "" "0000289305" "00023973" "10" "3135" "0" "3135" "0" "c.3135C>T" "r.(?)" "p.(Val1045=)" "" "0000289306" "00023973" "30" "3954" "0" "3954" "0" "c.3954G>A" "r.(?)" "p.(Gln1318=)" "" "0000289307" "00023973" "30" "4172" "0" "4172" "0" "c.4172A>G" "r.(?)" "p.(Lys1391Arg)" "" "0000289308" "00023973" "10" "4195" "0" "4195" "0" "c.4195C>T" "r.(?)" "p.(Leu1399=)" "" "0000289309" "00023973" "10" "4333" "-4" "4333" "-4" "c.4333-4G>A" "r.spl?" "p.?" "" "0000289310" "00023973" "30" "4588" "0" "4588" "0" "c.4588G>T" "r.(?)" "p.(Asp1530Tyr)" "" "0000289311" "00023973" "30" "4710" "0" "4710" "0" "c.4710A>C" "r.(?)" "p.(Thr1570=)" "" "0000289312" "00023973" "30" "4712" "0" "4712" "0" "c.4712C>A" "r.(?)" "p.(Thr1571Asn)" "" "0000289313" "00023973" "50" "5302" "0" "5302" "0" "c.5302G>A" "r.(?)" "p.(Glu1768Lys)" "" "0000289314" "00023973" "50" "5313" "0" "5313" "0" "c.5313del" "r.(?)" "p.(Ile1772PhefsTer15)" "" "0000289315" "00023973" "10" "5627" "0" "5627" "0" "c.5627G>A" "r.(?)" "p.(Arg1876Gln)" "" "0000289316" "00023973" "50" "5675" "0" "5675" "0" "c.5675G>A" "r.(?)" "p.(Arg1892His)" "" "0000289317" "00023973" "30" "6188" "0" "6188" "0" "c.6188C>T" "r.(?)" "p.(Ala2063Val)" "" "0000289319" "00023973" "30" "6551" "0" "6551" "0" "c.6551C>T" "r.(?)" "p.(Pro2184Leu)" "" "0000289320" "00023973" "50" "6578" "0" "6578" "0" "c.6578G>C" "r.(?)" "p.(Ser2193Thr)" "" "0000289321" "00023973" "30" "6606" "0" "6606" "0" "c.6606C>T" "r.(?)" "p.(Thr2202=)" "" "0000289322" "00023973" "30" "6980" "0" "6980" "0" "c.6980G>C" "r.(?)" "p.(Arg2327Pro)" "" "0000289323" "00023973" "30" "7837" "0" "7837" "0" "c.7837G>A" "r.(?)" "p.(Ala2613Thr)" "" "0000289324" "00023973" "50" "8058" "0" "8066" "0" "c.8058_8066del" "r.(?)" "p.(Glu2686_Ile2688del)" "" "0000289325" "00023973" "10" "8862" "0" "8862" "0" "c.8862G>A" "r.(?)" "p.(Arg2954=)" "" "0000289326" "00023973" "30" "9042" "0" "9042" "0" "c.9042G>A" "r.(?)" "p.(Arg3014=)" "" "0000289327" "00023973" "30" "9198" "0" "9198" "0" "c.9198G>A" "r.(?)" "p.(Ala3066=)" "" "0000289328" "00023973" "50" "9418" "-2" "9418" "-2" "c.9418-2A>G" "r.spl?" "p.?" "" "0000289329" "00023973" "30" "9656" "0" "9656" "0" "c.9656C>T" "r.(?)" "p.(Ala3219Val)" "" "0000324871" "00023973" "50" "13538" "0" "13538" "0" "c.13538G>A" "r.(?)" "p.(Arg4513His)" "" "0000324872" "00023973" "50" "12899" "0" "12899" "0" "c.12899G>C" "r.(?)" "p.(Cys4300Ser)" "" "0000324873" "00023973" "50" "12360" "0" "12360" "0" "c.12360C>A" "r.(?)" "p.(Phe4120Leu)" "" "0000324874" "00023973" "50" "8169" "0" "8169" "0" "c.8169C>G" "r.(?)" "p.(Asp2723Glu)" "" "0000324875" "00023973" "30" "2974" "0" "2974" "0" "c.2974G>A" "r.(?)" "p.(Ala992Thr)" "" "0000324876" "00023973" "50" "2255" "0" "2255" "0" "c.2255C>G" "r.(?)" "p.(Pro752Arg)" "" "0000408302" "00023973" "70" "1147" "0" "1147" "0" "c.1147C>T" "r.(?)" "p.(Arg383*)" "9" "0000408303" "00023973" "70" "14437" "0" "14437" "0" "c.14437C>T" "r.(?)" "p.(Arg4813*)" "84" "0000408304" "00023973" "70" "8674" "0" "8675" "0" "c.8674_8675delinsG" "r.(?)" "p.(Gln2892Glyfs*3)" "51" "0000438974" "00023973" "90" "10368" "-2" "10368" "-2" "c.10368-2A>G" "r.spl" "p.?" "" "0000438975" "00023973" "90" "8674" "0" "8675" "0" "c.8674_8675delinsG" "r.(?)" "p.(Gln2892Glyfs*3)" "" "0000558974" "00023973" "50" "22055" "0" "22055" "0" "c.*6689G>T" "r.(=)" "p.(=)" "" "0000558976" "00023973" "30" "14252" "0" "14252" "0" "c.14252C>T" "r.(?)" "p.(Thr4751Ile)" "" "0000558978" "00023973" "50" "13999" "0" "13999" "0" "c.13999G>T" "r.(?)" "p.(Gly4667Cys)" "" "0000558980" "00023973" "50" "13868" "0" "13868" "0" "c.13868G>C" "r.(?)" "p.(Gly4623Ala)" "" "0000558981" "00023973" "30" "13805" "0" "13805" "0" "c.13805G>T" "r.(?)" "p.(Ser4602Ile)" "" "0000558982" "00023973" "30" "13538" "0" "13538" "0" "c.13538G>A" "r.(?)" "p.(Arg4513His)" "" "0000558983" "00023973" "50" "13228" "0" "13229" "0" "c.13228_13229dup" "r.(?)" "p.(Thr4411ValfsTer4)" "" "0000558984" "00023973" "50" "12563" "0" "12563" "0" "c.12563C>T" "r.(?)" "p.(Thr4188Ile)" "" "0000558985" "00023973" "50" "12256" "0" "12256" "0" "c.12256C>G" "r.(?)" "p.(Leu4086Val)" "" "0000558986" "00023973" "50" "11472" "-2" "11472" "-2" "c.11472-2A>G" "r.spl?" "p.?" "" "0000558987" "00023973" "50" "10346" "0" "10346" "0" "c.10346C>G" "r.(?)" "p.(Ala3449Gly)" "" "0000558992" "00023973" "30" "6817" "0" "6817" "0" "c.6817A>G" "r.(?)" "p.(Met2273Val)" "" "0000558993" "00023973" "30" "6725" "0" "6725" "0" "c.6725A>G" "r.(?)" "p.(Gln2242Arg)" "" "0000558995" "00023973" "50" "6344" "0" "6345" "0" "c.6344_6345dup" "r.(?)" "p.(Ile2116SerfsTer2)" "" "0000558997" "00023973" "50" "6061" "0" "6061" "0" "c.6061G>A" "r.(?)" "p.(Gly2021Ser)" "" "0000558998" "00023973" "30" "6053" "0" "6053" "0" "c.6053G>A" "r.(?)" "p.(Arg2018His)" "" "0000558999" "00023973" "30" "5855" "0" "5855" "0" "c.5855G>A" "r.(?)" "p.(Arg1952Gln)" "" "0000559000" "00023973" "50" "5674" "0" "5674" "0" "c.5674C>T" "r.(?)" "p.(Arg1892Cys)" "" "0000559001" "00023973" "50" "5674" "0" "5674" "0" "c.5674del" "r.(?)" "p.(Arg1892AlafsTer18)" "" "0000559002" "00023973" "50" "5638" "0" "5638" "0" "c.5638G>A" "r.(?)" "p.(Gly1880Ser)" "" "0000559003" "00023973" "30" "5108" "0" "5108" "0" "c.5108G>A" "r.(?)" "p.(Arg1703His)" "" "0000559004" "00023973" "30" "4600" "0" "4600" "0" "c.4600A>G" "r.(?)" "p.(Ile1534Val)" "" "0000559005" "00023973" "50" "4463" "0" "4463" "0" "c.4463A>G" "r.(?)" "p.(Glu1488Gly)" "" "0000559008" "00023973" "30" "3291" "0" "3291" "0" "c.3291A>G" "r.(?)" "p.(Ile1097Met)" "" "0000559011" "00023973" "50" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602His)" "" "0000559012" "00023973" "30" "1712" "0" "1712" "0" "c.1712C>G" "r.(?)" "p.(Ala571Gly)" "" "0000559013" "00023973" "30" "1309" "0" "1309" "0" "c.1309A>G" "r.(?)" "p.(Ile437Val)" "" "0000559015" "00023973" "30" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Ile319Val)" "" "0000559018" "00023973" "70" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Ter)" "" "0000559021" "00023973" "30" "-116" "0" "-116" "0" "c.-116G>A" "r.(?)" "p.(=)" "" "0000616113" "00023973" "30" "14619" "0" "14619" "0" "c.14619C>T" "r.(?)" "p.(Ile4873=)" "" "0000616114" "00023973" "50" "9223" "0" "9223" "0" "c.9223C>T" "r.(?)" "p.(Arg3075Cys)" "" "0000616115" "00023973" "50" "9223" "0" "9223" "0" "c.9223C>T" "r.(?)" "p.(Arg3075Cys)" "" "0000623516" "00023973" "50" "11638" "0" "11638" "0" "c.11638G>A" "r.(?)" "p.(Asp3880Asn)" "" "0000623518" "00023973" "30" "1934" "0" "1934" "0" "c.1934A>T" "r.(?)" "p.(Asp645Val)" "" "0000626466" "00023973" "90" "3786" "-1" "3786" "-1" "c.3786-1G>T" "r.3786_3864del" "p.Thr1263Lysfs*2" "24i" "0000649394" "00023973" "30" "14857" "0" "14857" "0" "c.14857C>T" "r.(?)" "p.(Arg4953Trp)" "" "0000649395" "00023973" "10" "44" "0" "44" "0" "c.44T>C" "r.(?)" "p.(Met15Thr)" "" "0000657916" "00023973" "30" "13043" "7" "13043" "10" "c.13043+7_13043+10dup" "r.(=)" "p.(=)" "" "0000657918" "00023973" "30" "11801" "0" "11801" "0" "c.11801A>G" "r.(?)" "p.(Glu3934Gly)" "" "0000657919" "00023973" "30" "9871" "0" "9871" "0" "c.9871G>A" "r.(?)" "p.(Ala3291Thr)" "" "0000657921" "00023973" "30" "7482" "0" "7482" "0" "c.7482C>G" "r.(?)" "p.(Pro2494=)" "" "0000657922" "00023973" "50" "6916" "0" "6916" "0" "c.6916G>A" "r.(?)" "p.(Glu2306Lys)" "" "0000657923" "00023973" "50" "6188" "0" "6188" "0" "c.6188C>T" "r.(?)" "p.(Ala2063Val)" "" "0000657924" "00023973" "30" "6166" "0" "6166" "0" "c.6166G>A" "r.(?)" "p.(Val2056Met)" "" "0000657925" "00023973" "30" "5854" "0" "5854" "0" "c.5854C>G" "r.(?)" "p.(Arg1952Gly)" "" "0000657926" "00023973" "30" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000669350" "00023973" "30" "14857" "0" "14857" "0" "c.14857C>T" "r.(?)" "p.(Arg4953Trp)" "" "0000669351" "00023973" "10" "44" "0" "44" "0" "c.44T>C" "r.(?)" "p.(Met15Thr)" "" "0000675089" "00023973" "50" "11650" "0" "11650" "0" "c.11650G>A" "r.(?)" "p.(Glu3884Lys)" "" "0000692122" "00023973" "30" "12360" "0" "12360" "0" "c.12360C>A" "r.(?)" "p.(Phe4120Leu)" "" "0000692123" "00023973" "50" "9065" "0" "9065" "0" "c.9065A>G" "r.(?)" "p.(Asn3022Ser)" "" "0000692124" "00023973" "30" "3246" "0" "3246" "0" "c.3246C>T" "r.(?)" "p.(Thr1082=)" "" "0000692125" "00023973" "30" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(His619Tyr)" "" "0000692126" "00023973" "50" "1079" "0" "1079" "0" "c.1079A>G" "r.(?)" "p.(Glu360Gly)" "" "0000725935" "00023973" "30" "14775" "0" "14775" "0" "c.14775A>C" "r.(?)" "p.(Pro4925=)" "" "0000725936" "00023973" "70" "14641" "0" "14641" "0" "c.14641dup" "r.(?)" "p.(Val4881Glyfs*12)" "" "0000725937" "00023973" "50" "14569" "0" "14569" "0" "c.14569C>A" "r.(?)" "p.(Pro4857Thr)" "" "0000725938" "00023973" "70" "12038" "0" "12038" "0" "c.12038G>A" "r.(?)" "p.(Trp4013*)" "" "0000725939" "00023973" "50" "11990" "0" "11990" "0" "c.11990G>A" "r.(?)" "p.(Arg3997Gln)" "" "0000725940" "00023973" "30" "11638" "0" "11638" "0" "c.11638G>A" "r.(?)" "p.(Asp3880Asn)" "" "0000725941" "00023973" "30" "9033" "0" "9033" "0" "c.9033G>A" "r.(?)" "p.(Lys3011=)" "" "0000725942" "00023973" "50" "7370" "0" "7370" "0" "c.7370T>C" "r.(?)" "p.(Phe2457Ser)" "" "0000725943" "00023973" "50" "6668" "0" "6668" "0" "c.6668A>G" "r.(?)" "p.(Gln2223Arg)" "" "0000725944" "00023973" "30" "4866" "0" "4866" "0" "c.4866T>C" "r.(?)" "p.(Phe1622=)" "" "0000725945" "00023973" "90" "3175" "0" "3175" "0" "c.3175C>T" "r.(?)" "p.(Arg1059*)" "" "0000725946" "00023973" "50" "2377" "-9" "2377" "-9" "c.2377-9G>A" "r.(=)" "p.(=)" "" "0000725947" "00023973" "30" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Ile106Val)" "" "0000725948" "00023973" "70" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Gln99*)" "" "0000725949" "00023973" "30" "136" "-7" "136" "-7" "c.136-7A>T" "r.(=)" "p.(=)" "" "0000786665" "00023973" "50" "3881" "0" "3881" "0" "c.3881C>G" "r.(?)" "p.(Ser1294Cys)" "" "0000786680" "00023973" "50" "3365" "0" "3365" "0" "c.3365T>C" "r.(?)" "p.(Leu1122Pro)" "" "0000807566" "00023973" "30" "14514" "0" "14514" "0" "c.14514C>T" "r.(?)" "p.(Ile4838=)" "" "0000807567" "00023973" "30" "12752" "0" "12752" "0" "c.12752T>C" "r.(?)" "p.(Leu4251Pro)" "" "0000807568" "00023973" "90" "12625" "0" "12625" "0" "c.12625C>T" "r.(?)" "p.(Gln4209*)" "" "0000807569" "00023973" "30" "12132" "0" "12132" "0" "c.12132C>T" "r.(?)" "p.(Ile4044=)" "" "0000807570" "00023973" "30" "11268" "0" "11268" "0" "c.11268C>T" "r.(?)" "p.(Asp3756=)" "" "0000807571" "00023973" "30" "10905" "0" "10905" "0" "c.10905C>T" "r.(?)" "p.(Phe3635=)" "" "0000807573" "00023973" "90" "9418" "-5" "9420" "0" "c.9418-5_9420dup" "r.spl?" "p.?" "" "0000807574" "00023973" "90" "8903" "0" "8903" "0" "c.8903G>A" "r.(?)" "p.(Trp2968*)" "" "0000807575" "00023973" "90" "8675" "0" "8675" "0" "c.8675del" "r.(?)" "p.(Gln2892ArgfsTer3)" "" "0000807576" "00023973" "50" "8674" "0" "8674" "0" "c.8674C>G" "r.(?)" "p.(Gln2892Glu)" "" "0000807577" "00023973" "30" "7142" "0" "7142" "0" "c.7142A>C" "r.(?)" "p.(Gln2381Pro)" "" "0000807578" "00023973" "30" "6981" "0" "6981" "0" "c.6981C>T" "r.(?)" "p.(Arg2327=)" "" "0000807579" "00023973" "30" "6630" "0" "6630" "0" "c.6630G>A" "r.(?)" "p.(Pro2210=)" "" "0000807580" "00023973" "50" "5772" "0" "5772" "0" "c.5772T>A" "r.(?)" "p.(Asn1924Lys)" "" "0000807581" "00023973" "30" "2259" "0" "2259" "0" "c.2259C>T" "r.(?)" "p.(Ser753=)" "" "0000854612" "00023973" "50" "14252" "0" "14252" "0" "c.14252C>T" "r.(?)" "p.(Thr4751Ile)" "" "0000854613" "00023973" "50" "12444" "-3" "12444" "-3" "c.12444-3C>G" "r.spl?" "p.?" "" "0000854614" "00023973" "50" "9805" "0" "9805" "0" "c.9805T>G" "r.(?)" "p.(Tyr3269Asp)" "" "0000854615" "00023973" "30" "9667" "0" "9667" "0" "c.9667G>A" "r.(?)" "p.(Val3223Ile)" "" "0000854616" "00023973" "90" "8675" "0" "8675" "0" "c.8675del" "r.(?)" "p.(Gln2892ArgfsTer3)" "" "0000854617" "00023973" "30" "7335" "0" "7335" "0" "c.7335C>G" "r.(?)" "p.(Asn2445Lys)" "" "0000854618" "00023973" "90" "6669" "1" "6669" "1" "c.6669+1G>A" "r.spl?" "p.?" "" "0000854619" "00023973" "50" "3845" "0" "3845" "0" "c.3845del" "r.(?)" "p.(Ala1282Valfs*4)" "" "0000854620" "00023973" "30" "3592" "0" "3592" "0" "c.3592G>A" "r.(?)" "p.(Val1198Ile)" "" "0000854621" "00023973" "30" "2974" "0" "2974" "0" "c.2974G>A" "r.(?)" "p.(Ala992Thr)" "" "0000854622" "00023973" "50" "2956" "0" "2956" "0" "c.2956G>A" "r.(?)" "p.(Val986Met)" "" "0000854623" "00023973" "30" "2187" "0" "2187" "0" "c.2187A>G" "r.(?)" "p.(Pro729=)" "" "0000854624" "00023973" "50" "865" "0" "865" "0" "c.865T>C" "r.(?)" "p.(Tyr289His)" "" "0000864915" "00023973" "50" "14438" "0" "14438" "0" "c.14438G>A" "r.(?)" "p.(Arg4813Gln)" "" "0000864916" "00023973" "50" "12900" "0" "12900" "0" "c.12900C>T" "r.(?)" "p.(Cys4300=)" "" "0000864917" "00023973" "50" "12899" "0" "12899" "0" "c.12899G>C" "r.(?)" "p.(Cys4300Ser)" "" "0000864918" "00023973" "30" "11463" "0" "11463" "0" "c.11463A>C" "r.(?)" "p.(Arg3821=)" "" "0000864919" "00023973" "30" "11344" "0" "11344" "0" "c.11344G>A" "r.(?)" "p.(Val3782Ile)" "" "0000864920" "00023973" "30" "10949" "-10" "10949" "-10" "c.10949-10T>C" "r.(=)" "p.(=)" "" "0000864921" "00023973" "30" "10652" "0" "10652" "0" "c.10652A>G" "r.(?)" "p.(His3551Arg)" "" "0000864922" "00023973" "50" "7807" "0" "7807" "0" "c.7807G>A" "r.(?)" "p.(Gly2603Ser)" "" "0000864923" "00023973" "50" "7592" "0" "7592" "0" "c.7592C>T" "r.(?)" "p.(Ala2531Val)" "" "0000864924" "00023973" "50" "4990" "0" "4990" "0" "c.4990G>T" "r.(?)" "p.(Gly1664Trp)" "" "0000864925" "00023973" "30" "2859" "0" "2859" "0" "c.2859G>A" "r.(?)" "p.(Gln953=)" "" "0000893162" "00023973" "50" "9418" "-2" "9418" "-2" "c.9418-2A>G" "r.spl?" "p.?" "" "0000893163" "00023973" "50" "9223" "0" "9223" "0" "c.9223C>T" "r.(?)" "p.(Arg3075Cys)" "" "0000893164" "00023973" "50" "9193" "0" "9193" "0" "c.9193G>A" "r.(?)" "p.(Glu3065Lys)" "" "0000893165" "00023973" "50" "7532" "0" "7532" "0" "c.7532G>A" "r.(?)" "p.(Arg2511Gln)" "" "0000893166" "00023973" "50" "7492" "0" "7492" "0" "c.7492C>T" "r.(?)" "p.(Arg2498Cys)" "" "0000893167" "00023973" "50" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Glu466Lys)" "" "0000893168" "00023973" "50" "199" "0" "199" "0" "c.199C>A" "r.(?)" "p.(Arg67Ser)" "" "0000902222" "00023973" "90" "5969" "-2" "5969" "-2" "c.5969-2A>G" "r.spl" "p.?" "39" "0000902223" "00023973" "90" "6316" "1" "6316" "1" "c.6316+1G>A" "r.spl" "p.?" "40" "0000902224" "00023973" "70" "9507" "0" "9507" "0" "c.9507C>G" "r.(?)" "p.(Asn3169Lys)" "" "0000902225" "00023973" "70" "14081" "0" "14081" "0" "c.14081G>A" "r.(?)" "p.(Arg4694His)" "" "0000926341" "00023973" "50" "7483" "0" "7483" "0" "c.7483G>A" "r.(?)" "p.(Asp2495Asn)" "" "0000926342" "00023973" "50" "4430" "0" "4430" "0" "c.4430A>G" "r.(?)" "p.(His1477Arg)" "" "0000950718" "00023973" "50" "14606" "0" "14606" "0" "c.14606G>A" "r.(?)" "p.(Arg4869Gln)" "" "0000950719" "00023973" "50" "12899" "0" "12899" "0" "c.12899G>C" "r.(?)" "p.(Cys4300Ser)" "" "0000950720" "00023973" "70" "12817" "0" "12817" "0" "c.12817del" "r.(?)" "p.(Leu4273Cysfs*6)" "" "0000950721" "00023973" "50" "8413" "0" "8413" "0" "c.8413C>T" "r.(?)" "p.(Arg2805Trp)" "" "0000950722" "00023973" "50" "6615" "0" "6615" "0" "c.6615G>A" "r.(?)" "p.(Met2205Ile)" "" "0000950723" "00023973" "50" "1095" "0" "1095" "0" "c.1095dup" "r.(?)" "p.(Glu366*)" "" "0000968481" "00023973" "50" "10072" "0" "10072" "0" "c.10072G>A" "r.(?)" "p.(Gly3358Arg)" "" "0000968487" "00023973" "50" "2512" "0" "2512" "0" "c.2512T>G" "r.(?)" "p.(Phe838Val)" "" "0000982030" "00023973" "30" "14759" "0" "14759" "0" "c.14759A>C" "r.(?)" "p.(Tyr4920Ser)" "" "0000982031" "00023973" "30" "14658" "5" "14658" "5" "c.14658+5G>A" "r.spl?" "p.?" "" "0000982032" "00023973" "30" "14543" "0" "14543" "0" "c.14543C>T" "r.(?)" "p.(Ala4848Val)" "" "0000982034" "00023973" "30" "11638" "0" "11638" "0" "c.11638G>A" "r.(?)" "p.(Asp3880Asn)" "" "0000982035" "00023973" "30" "11047" "0" "11047" "0" "c.11047C>T" "r.(?)" "p.(Arg3683Trp)" "" "0000982036" "00023973" "30" "7681" "0" "7683" "0" "c.7681_7683del" "r.(?)" "p.(Glu2561del)" "" "0000982037" "00023973" "50" "4333" "-6" "4333" "-6" "c.4333-6G>A" "r.(=)" "p.(=)" "" "0000982038" "00023973" "30" "2377" "-10" "2377" "-10" "c.2377-10C>T" "r.(=)" "p.(=)" "" "0000982039" "00023973" "50" "2371" "0" "2371" "0" "c.2371C>G" "r.(?)" "p.(Pro791Ala)" "" "0000982040" "00023973" "30" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0001002533" "00023973" "50" "12034" "0" "12034" "0" "c.12034T>C" "r.(?)" "p.(Cys4012Arg)" "" "0001002534" "00023973" "30" "7592" "0" "7592" "0" "c.7592C>T" "r.(?)" "p.(Ala2531Val)" "" "0001002535" "00023973" "70" "1739" "-2" "1739" "-2" "c.1739-2A>G" "r.spl?" "p.?" "" "0001010075" "00023973" "70" "13801" "0" "13801" "0" "c.13801del" "r.13801del" "p.Glu4601ArgfsTer17" "80" "0001010076" "00023973" "90" "1797" "0" "1797" "0" "c.1797C>G" "r.(?)" "p.(Tyr599Ter)" "14" "0001010077" "00023973" "90" "1797" "0" "1797" "0" "c.1797C>G" "r.(?)" "p.(Tyr599Ter)" "14" "0001010078" "00023973" "90" "1797" "0" "1797" "0" "c.1797C>G" "r.(?)" "p.(Tyr599Ter)" "14" "0001010079" "00023973" "70" "12899" "0" "12899" "0" "c.12899G>C" "r.12899g>c" "p.Cys4300Ser" "76" "0001010080" "00023973" "50" "13800" "0" "13800" "0" "c.13800G>C" "r.13800g>c" "p.Lys4600Asn" "80" "0001010081" "00023973" "10" "3291" "0" "3291" "0" "c.3291A>G" "r.3291a>g" "p.Ile1097Met" "22" "0001026754" "00023973" "50" "13867" "0" "13867" "0" "c.13867G>T" "r.(?)" "p.(Gly4623*)" "" "0001026755" "00023973" "50" "8356" "0" "8356" "0" "c.8356C>T" "r.(?)" "p.(Arg2786*)" "" "0001026756" "00023973" "90" "6669" "1" "6669" "1" "c.6669+1G>A" "r.spl?" "p.?" "" "0001027593" "00023973" "30" "1003" "0" "1003" "0" "c.1003G>T" "r.(?)" "p.(Val335Leu)" "" "0001027594" "00023973" "30" "1003" "0" "1003" "0" "c.1003G>T" "r.(?)" "p.(Val335Leu)" "" "0001027605" "00023973" "70" "9638" "0" "9638" "0" "c.9638C>G" "r.(?)" "p.(Pro3213Arg)" "" "0001027606" "00023973" "70" "9638" "0" "9638" "0" "c.9638C>G" "r.(?)" "p.(Pro3213Arg)" "" "0001027683" "00023973" "30" "11173" "0" "11173" "0" "c.11173C>T" "r.(?)" "p.(Arg3725Trp)" "" "0001041313" "00023973" "70" "14183" "0" "14184" "0" "c.14183_14184dup" "r.(?)" "p.(Lys4729Profs*4)" "" "0001041314" "00023973" "30" "13951" "0" "13951" "0" "c.13951C>G" "r.(?)" "p.(Leu4651Val)" "" "0001041315" "00023973" "50" "13589" "0" "13589" "0" "c.13589A>T" "r.(?)" "p.(Asp4530Val)" "" "0001041316" "00023973" "50" "10918" "0" "10918" "0" "c.10918G>A" "r.(?)" "p.(Glu3640Lys)" "" "0001041317" "00023973" "30" "4271" "0" "4271" "0" "c.4271C>A" "r.(?)" "p.(Thr1424Asn)" "" "0001041319" "00023973" "50" "1671" "0" "1673" "0" "c.1671_1673del" "r.(?)" "p.(Arg557_Gly558delinsSerSer)" "" "0001041320" "00023973" "70" "262" "-3" "262" "-3" "c.262-3A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000018530" "0000038996" "0000184285" "0000408302" "0000184286" "0000408303" "0000184287" "0000408304" "0000208938" "0000438974" "0000208938" "0000438975" "0000272536" "0000626466" "0000292705" "0000649394" "0000292706" "0000649395" "0000305662" "0000669350" "0000305663" "0000669351" "0000308219" "0000675089" "0000375324" "0000786665" "0000375324" "0000786680" "0000425459" "0000902222" "0000425459" "0000902223" "0000425460" "0000902224" "0000425460" "0000902225" "0000456407" "0001010075" "0000456407" "0001010079" "0000456407" "0001010080" "0000456407" "0001010081" "0000456408" "0001010076" "0000456409" "0001010077" "0000456410" "0001010078" "0000463964" "0001027593" "0000463964" "0001027605" "0000463965" "0001027594" "0000463965" "0001027606" "0000464039" "0001027683"