### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FHOD3) # 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}}" "FHOD3" "formin homology 2 domain containing 3" "18" "q12" "unknown" "NC_000018.9" "UD_132378697030" "" "https://www.LOVD.nl/FHOD3" "" "1" "26178" "80206" "609691" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-26 15:11:47" "00000" "2026-05-18 13:02:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00007954" "FHOD3" "formin homology 2 domain containing 3" "001" "NM_025135.2" "" "NP_079411.2" "" "" "" "-97" "4845" "4320" "33877702" "34360018" "" "0000-00-00 00:00:00" "" "" "00026082" "FHOD3" "transcript variant 3 (removed from reference sequence) (removed from reference sequence) (removed from reference sequence) (removed from reference sequence) (removed from reference sequence) (removed from reference sequence)" "000" "NM_001281740.2" "" "NP_001268669.1" "" "" "RefSeq select" "-140" "5566" "4869" "1" "1" "00006" "2026-05-04 12:25:28" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00320293" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "AJI1" "00334713" "" "" "" "7" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00478163" "" "" "" "1" "" "00006" "{PMID:Sambuughin 2024:39457051}" "analysis 53 cases with exertional heat illness events" "" "" "United States" "" "0" "" "" "" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00320293" "04172" "00334713" "04214" "00478163" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04172, 04214 ## Count = 1 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000242321" "04172" "00320293" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000321479" "00320293" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000335942" "00334713" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000479810" "00478163" "1" "00006" "00006" "2026-05-04 13:34:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000321479" "CAV3" "0000321479" "FHOD3" ## 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 = 251 "{{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}}" "0000255931" "0" "50" "18" "34261509" "34261509" "subst" "0" "01943" "FHOD3_000003" "g.34261509A>G" "" "" "" "FHOD3(NM_001281740.2):c.1946A>G (p.E649G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36681546A>G" "" "VUS" "" "0000287515" "0" "50" "18" "34349311" "34349311" "subst" "0.000844883" "01943" "FHOD3_000004" "g.34349311G>A" "" "" "" "FHOD3(NM_001281740.2):c.4708G>A (p.V1570I), FHOD3(NM_001281740.3):c.4708G>A (p.V1570I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36769348G>A" "" "VUS" "" "0000290212" "0" "50" "18" "34409122" "34409122" "del" "0" "01943" "KIAA1328_000001" "g.34409122del" "" "" "" "KIAA1328(NM_020776.3):c.21delC (p.S8Pfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36829159del" "" "VUS" "" "0000564730" "0" "30" "18" "34156475" "34156475" "subst" "0.00102538" "01943" "FHOD3_000005" "g.34156475C>T" "" "" "" "FHOD3(NM_001281740.2):c.573C>T (p.T191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36576512C>T" "" "likely benign" "" "0000564731" "0" "30" "18" "34238107" "34238107" "subst" "0.000343929" "01943" "FHOD3_000006" "g.34238107C>G" "" "" "" "FHOD3(NM_001281740.2):c.1791C>G (p.T597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36658144C>G" "" "likely benign" "" "0000564732" "0" "30" "18" "34261475" "34261475" "subst" "0.000431659" "01943" "FHOD3_000002" "g.34261475C>T" "" "" "" "FHOD3(NM_001281740.2):c.1912C>T (p.R638W), FHOD3(NM_001281740.3):c.1912C>T (p.R638W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36681512C>T" "" "likely benign" "" "0000564733" "0" "50" "18" "34273239" "34273239" "subst" "1.63003E-5" "01943" "FHOD3_000007" "g.34273239C>T" "" "" "" "FHOD3(NM_001281740.2):c.2089C>T (p.R697W), FHOD3(NM_025135.5):c.1564C>T (p.R522W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36693276C>T" "" "VUS" "" "0000564734" "0" "30" "18" "34298176" "34298176" "subst" "5.28322E-5" "01943" "FHOD3_000008" "g.34298176C>T" "" "" "" "FHOD3(NM_001281740.2):c.2915C>T (p.P972L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36718213C>T" "" "likely benign" "" "0000617132" "0" "30" "18" "33877930" "33877930" "subst" "0" "02327" "FHOD3_000009" "g.33877930G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36297967G>A" "" "likely benign" "" "0000617133" "0" "30" "18" "34092418" "34092418" "subst" "0" "01943" "FHOD3_000010" "g.34092418G>A" "" "" "" "FHOD3(NM_001281740.2):c.423G>A (p.V141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36512455G>A" "" "likely benign" "" "0000617134" "0" "30" "18" "34156516" "34156516" "del" "0" "01943" "FHOD3_000011" "g.34156516del" "" "" "" "FHOD3(NM_001281740.2):c.606+8delG, FHOD3(NM_025135.5):c.606+8delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36576553del" "" "likely benign" "" "0000617135" "0" "30" "18" "34156516" "34156516" "del" "0" "02327" "FHOD3_000011" "g.34156516del" "" "" "" "FHOD3(NM_001281740.2):c.606+8delG, FHOD3(NM_025135.5):c.606+8delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36576553del" "" "likely benign" "" "0000617136" "0" "50" "18" "34191978" "34191978" "subst" "1.62536E-5" "02327" "FHOD3_000013" "g.34191978G>A" "" "" "" "FHOD3(NM_001281740.3):c.877G>A (p.G293S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36612015G>A" "" "VUS" "" "0000617137" "0" "30" "18" "34205560" "34205560" "subst" "0.000200282" "01943" "FHOD3_000014" "g.34205560C>T" "" "" "" "FHOD3(NM_001281740.2):c.1044C>T (p.S348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36625597C>T" "" "likely benign" "" "0000617138" "0" "50" "18" "34205604" "34205604" "subst" "4.9629E-5" "01943" "FHOD3_000015" "g.34205604G>A" "" "" "" "FHOD3(NM_001281740.2):c.1088G>A (p.R363H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36625641G>A" "" "VUS" "" "0000617139" "0" "30" "18" "34229330" "34229330" "subst" "0" "01943" "FHOD3_000016" "g.34229330A>G" "" "" "" "FHOD3(NM_001281740.2):c.1248A>G (p.E416=), FHOD3(NM_001281740.3):c.1248A>G (p.E416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36649367A>G" "" "likely benign" "" "0000617140" "0" "30" "18" "34232636" "34232636" "subst" "0" "01943" "FHOD3_000017" "g.34232636C>T" "" "" "" "FHOD3(NM_001281740.2):c.1390C>T (p.L464F), FHOD3(NM_001281740.3):c.1390C>T (p.L464F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36652673C>T" "" "likely benign" "" "0000617141" "0" "50" "18" "34232781" "34232781" "subst" "0" "01943" "FHOD3_000018" "g.34232781T>C" "" "" "" "FHOD3(NM_001281740.2):c.1535T>C (p.I512T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36652818T>C" "" "VUS" "" "0000617142" "0" "30" "18" "34238099" "34238099" "subst" "0.000341717" "02327" "FHOD3_000019" "g.34238099C>T" "" "" "" "FHOD3(NM_001281740.2):c.1783C>T (p.P595S), FHOD3(NM_001281740.3):c.1783C>T (p.P595S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36658136C>T" "" "likely benign" "" "0000617143" "0" "30" "18" "34261444" "34261444" "subst" "1.22046E-5" "02327" "FHOD3_000020" "g.34261444A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36681481A>G" "" "likely benign" "" "0000617144" "0" "30" "18" "34261473" "34261473" "subst" "0.00170104" "01943" "FHOD3_000021" "g.34261473G>A" "" "" "" "FHOD3(NM_001281740.2):c.1910G>A (p.R637Q), FHOD3(NM_001281740.3):c.1910G>A (p.R637Q), FHOD3(NM_025135.5):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36681510G>A" "" "likely benign" "" "0000617145" "0" "30" "18" "34289080" "34289080" "subst" "0" "02327" "FHOD3_000023" "g.34289080C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36709117C>G" "" "likely benign" "" "0000617146" "0" "30" "18" "34298045" "34298045" "subst" "5.5953E-5" "02327" "FHOD3_000024" "g.34298045C>T" "" "" "" "FHOD3(NM_001281740.3):c.2784C>T (p.V928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36718082C>T" "" "likely benign" "" "0000617147" "0" "30" "18" "34298372" "34298372" "subst" "0.00141875" "01943" "FHOD3_000025" "g.34298372T>C" "" "" "" "FHOD3(NM_001281740.2):c.3111T>C (p.P1037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36718409T>C" "" "likely benign" "" "0000617148" "0" "30" "18" "34298375" "34298375" "subst" "0.000327421" "01943" "FHOD3_000026" "g.34298375G>C" "" "" "" "FHOD3(NM_001281740.2):c.3114G>C (p.P1038=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36718412G>C" "" "likely benign" "" "0000617149" "0" "30" "18" "34320704" "34320704" "subst" "0.000548308" "01943" "FHOD3_000027" "g.34320704G>A" "" "" "" "FHOD3(NM_001281740.2):c.3662G>A (p.S1221N), FHOD3(NM_001281740.3):c.3662G>A (p.S1221N), FHOD3(NM_025135.5):c.3137G>A (p.S1046N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36740741G>A" "" "likely benign" "" "0000617150" "0" "30" "18" "34320704" "34320704" "subst" "0.000548308" "02327" "FHOD3_000027" "g.34320704G>A" "" "" "" "FHOD3(NM_001281740.2):c.3662G>A (p.S1221N), FHOD3(NM_001281740.3):c.3662G>A (p.S1221N), FHOD3(NM_025135.5):c.3137G>A (p.S1046N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36740741G>A" "" "likely benign" "" "0000617151" "0" "50" "18" "34322798" "34322798" "subst" "4.47365E-5" "01943" "FHOD3_000028" "g.34322798G>T" "" "" "" "FHOD3(NM_001281740.2):c.3858G>T (p.G1286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36742835G>T" "" "VUS" "" "0000617152" "0" "30" "18" "34340626" "34340626" "subst" "4.10647E-6" "02327" "FHOD3_000029" "g.34340626G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36760663G>T" "" "likely benign" "" "0000623843" "0" "30" "18" "34191909" "34191909" "subst" "0.000184401" "01943" "FHOD3_000012" "g.34191909T>C" "" "" "" "FHOD3(NM_001281740.2):c.814-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36611946T>C" "" "likely benign" "" "0000623844" "0" "30" "18" "34273358" "34273358" "subst" "0.00333363" "01943" "FHOD3_000022" "g.34273358C>A" "" "" "" "FHOD3(NM_001281740.2):c.2208C>A (p.S736=), FHOD3(NM_001281740.3):c.2208C>A (p.S736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36693395C>A" "" "likely benign" "" "0000658364" "0" "30" "18" "34205470" "34205470" "subst" "0.00060872" "01943" "FHOD3_000030" "g.34205470C>T" "" "" "" "FHOD3(NM_001281740.2):c.958-4C>T, FHOD3(NM_001281740.3):c.958-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36625507C>T" "" "likely benign" "" "0000658365" "0" "30" "18" "34229358" "34229358" "subst" "0" "01943" "FHOD3_000031" "g.34229358G>A" "" "" "" "FHOD3(NM_001281740.2):c.1276G>A (p.G426S), FHOD3(NM_001281740.3):c.1276G>A (p.G426S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36649395G>A" "" "likely benign" "" "0000658366" "0" "30" "18" "34232735" "34232735" "subst" "0" "01943" "FHOD3_000032" "g.34232735C>T" "" "" "" "FHOD3(NM_001281740.2):c.1489C>T (p.R497W), FHOD3(NM_001281740.3):c.1489C>T (p.R497W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36652772C>T" "" "likely benign" "" "0000658367" "0" "30" "18" "34238062" "34238062" "subst" "5.02849E-5" "01943" "FHOD3_000033" "g.34238062T>C" "" "" "" "FHOD3(NM_001281740.2):c.1746T>C (p.S582=), FHOD3(NM_001281740.3):c.1746T>C (p.S582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36658099T>C" "" "likely benign" "" "0000658368" "0" "30" "18" "34289081" "34289081" "subst" "0.00115614" "01943" "FHOD3_000034" "g.34289081G>A" "" "" "" "FHOD3(NM_001281740.2):c.2260G>A (p.E754K), FHOD3(NM_001281740.3):c.2260G>A (p.E754K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36709118G>A" "" "likely benign" "" "0000658369" "0" "30" "18" "34289305" "34289305" "subst" "4.47398E-5" "01943" "FHOD3_000035" "g.34289305G>A" "" "" "" "FHOD3(NM_001281740.2):c.2484G>A (p.T828=), FHOD3(NM_001281740.3):c.2484G>A (p.T828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36709342G>A" "" "likely benign" "" "0000658370" "0" "30" "18" "34298002" "34298002" "subst" "4.25601E-6" "01943" "FHOD3_000036" "g.34298002C>G" "" "" "" "FHOD3(NM_001281740.2):c.2741C>G (p.A914G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36718039C>G" "" "likely benign" "" "0000658371" "0" "30" "18" "34298372" "34298372" "subst" "0" "01943" "FHOD3_000037" "g.34298372T>A" "" "" "" "FHOD3(NM_001281740.2):c.3111T>A (p.P1037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36718409T>A" "" "likely benign" "" "0000658372" "0" "50" "18" "34298575" "34298575" "subst" "9.3398E-5" "01943" "FHOD3_000038" "g.34298575G>A" "" "" "" "FHOD3(NM_001281740.2):c.3314G>A (p.R1105H), FHOD3(NM_025135.5):c.2789G>A (p.R930H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36718612G>A" "" "VUS" "" "0000658373" "0" "50" "18" "34339106" "34339106" "subst" "0" "01943" "FHOD3_000039" "g.34339106T>C" "" "" "" "FHOD3(NM_001281740.2):c.4449+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36759143T>C" "" "VUS" "" "0000658374" "0" "30" "18" "34340668" "34340668" "subst" "2.86404E-5" "01943" "FHOD3_000040" "g.34340668T>C" "" "" "" "FHOD3(NM_001281740.2):c.4547T>C (p.V1516A), FHOD3(NM_025135.5):c.3998T>C (p.V1333A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36760705T>C" "" "likely benign" "" "0000658375" "0" "30" "18" "34349355" "34349355" "subst" "4.06557E-5" "01943" "FHOD3_000041" "g.34349355G>A" "" "" "" "FHOD3(NM_001281740.2):c.4752G>A (p.R1584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36769392G>A" "" "likely benign" "" "0000681136" "0" "50" "18" "34205526" "34205526" "subst" "7.78614E-5" "01943" "FHOD3_000042" "g.34205526G>A" "" "" "" "FHOD3(NM_001281740.2):c.1010G>A (p.G337E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681137" "0" "50" "18" "34232826" "34232826" "subst" "0" "01943" "FHOD3_000043" "g.34232826C>T" "" "" "" "FHOD3(NM_001281740.2):c.1580C>T (p.S527F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681138" "0" "30" "18" "34238055" "34238055" "subst" "0.00117922" "01943" "FHOD3_000044" "g.34238055A>G" "" "" "" "FHOD3(NM_001281740.2):c.1739A>G (p.N580S), FHOD3(NM_001281740.3):c.1739A>G (p.N580S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681139" "0" "30" "18" "34261542" "34261542" "subst" "0.00111619" "01943" "FHOD3_000045" "g.34261542G>A" "" "" "" "FHOD3(NM_001281740.2):c.1970+9G>A, FHOD3(NM_001281740.3):c.1970+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681140" "0" "30" "18" "34273208" "34273208" "subst" "2.03859E-5" "01943" "FHOD3_000046" "g.34273208C>T" "" "" "" "FHOD3(NM_001281740.2):c.2058C>T (p.H686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681141" "0" "50" "18" "34289205" "34289205" "subst" "0" "01943" "FHOD3_000047" "g.34289205C>G" "" "" "" "FHOD3(NM_001281740.2):c.2384C>G (p.P795R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681142" "0" "30" "18" "34298151" "34298151" "subst" "2.44648E-5" "01943" "FHOD3_000048" "g.34298151G>T" "" "" "" "FHOD3(NM_001281740.1):c.2890G>T (p.(Val964Phe)), FHOD3(NM_001281740.2):c.2890G>T (p.V964F), FHOD3(NM_025135.5):c.2365G>T (p.V789F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692591" "0" "30" "18" "34238099" "34238099" "subst" "0.000341717" "01943" "FHOD3_000019" "g.34238099C>T" "" "" "" "FHOD3(NM_001281740.2):c.1783C>T (p.P595S), FHOD3(NM_001281740.3):c.1783C>T (p.P595S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692592" "0" "50" "18" "34261508" "34261508" "subst" "0" "01943" "FHOD3_000049" "g.34261508G>A" "" "" "" "FHOD3(NM_001281740.2):c.1945G>A (p.E649K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692593" "0" "30" "18" "34267147" "34267147" "subst" "4.14821E-6" "01943" "FHOD3_000050" "g.34267147T>C" "" "" "" "FHOD3(NM_001281740.2):c.2021+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704362" "0" "50" "18" "34261413" "34261413" "subst" "3.25473E-5" "00006" "FHOD3_000051" "g.34261413G>A" "" "{PMID:Isbister 2020:32931854}" "" "NM_001281740.2:c.1850G>A" "" "Germline" "" "" "0" "" "" "g.36681450G>A" "" "VUS" "ACMG" "0000726877" "0" "30" "18" "34233359" "34233359" "subst" "0" "01943" "FHOD3_000052" "g.34233359C>A" "" "" "" "FHOD3(NM_001281740.2):c.1701C>A (p.F567L), FHOD3(NM_001281740.3):c.1701C>A (p.F567L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726878" "0" "30" "18" "34298374" "34298374" "subst" "8.60015E-5" "01943" "FHOD3_000053" "g.34298374C>T" "" "" "" "FHOD3(NM_001281740.2):c.3113C>T (p.P1038L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726879" "0" "50" "18" "34320643" "34320643" "subst" "4.06653E-6" "01943" "FHOD3_000054" "g.34320643G>T" "" "" "" "FHOD3(NM_001281740.2):c.3601G>T (p.D1201Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734854" "0" "30" "18" "34298333" "34298333" "subst" "0.23405" "00000" "FHOD3_000055" "g.34298333A>C" "7/25 families" "{PMID:Maranhao 2015:26352687}" "" "FHOD3:c.2547A>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000808472" "0" "30" "18" "34174806" "34174806" "subst" "0.000593549" "01943" "FHOD3_000056" "g.34174806G>A" "" "" "" "FHOD3(NM_001281740.2):c.663G>A (p.S221=), FHOD3(NM_001281740.3):c.663G>A (p.S221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808473" "0" "30" "18" "34182695" "34182695" "subst" "6.90344E-5" "01943" "FHOD3_000057" "g.34182695G>A" "" "" "" "FHOD3(NM_001281740.2):c.777G>A (p.T259=), FHOD3(NM_025135.5):c.777G>A (p.T259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808474" "0" "30" "18" "34191950" "34191950" "subst" "1.22053E-5" "01943" "FHOD3_000058" "g.34191950C>T" "" "" "" "FHOD3(NM_001281740.2):c.849C>T (p.Y283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808475" "0" "50" "18" "34229291" "34229293" "dup" "0" "02325" "FHOD3_000059" "g.34229291_34229293dup" "" "" "" "FHOD3(NM_025135.5):c.1197-8747_1197-8745dupGGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808476" "0" "30" "18" "34261473" "34261473" "subst" "0.00170104" "02325" "FHOD3_000021" "g.34261473G>A" "" "" "" "FHOD3(NM_001281740.2):c.1910G>A (p.R637Q), FHOD3(NM_001281740.3):c.1910G>A (p.R637Q), FHOD3(NM_025135.5):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808477" "0" "30" "18" "34298143" "34298143" "subst" "7.35252E-5" "01943" "FHOD3_000060" "g.34298143A>G" "" "" "" "FHOD3(NM_001281740.2):c.2882A>G (p.N961S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808478" "0" "50" "18" "34298341" "34298341" "subst" "0" "02325" "FHOD3_000061" "g.34298341C>A" "" "" "" "FHOD3(NM_025135.5):c.2555C>A (p.P852H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808479" "0" "30" "18" "34320704" "34320704" "subst" "0.000548308" "02325" "FHOD3_000027" "g.34320704G>A" "" "" "" "FHOD3(NM_001281740.2):c.3662G>A (p.S1221N), FHOD3(NM_001281740.3):c.3662G>A (p.S1221N), FHOD3(NM_025135.5):c.3137G>A (p.S1046N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808480" "0" "50" "18" "34326996" "34326996" "subst" "0" "02325" "FHOD3_000062" "g.34326996A>G" "" "" "" "FHOD3(NM_025135.5):c.3605A>G (p.H1202R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808481" "0" "50" "18" "34340668" "34340668" "subst" "2.86404E-5" "02325" "FHOD3_000040" "g.34340668T>C" "" "" "" "FHOD3(NM_001281740.2):c.4547T>C (p.V1516A), FHOD3(NM_025135.5):c.3998T>C (p.V1333A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855286" "0" "50" "18" "33935574" "33935574" "subst" "0.000190917" "01943" "FHOD3_000063" "g.33935574C>T" "" "" "" "FHOD3(NM_001281740.1):c.238C>T (p.(Arg80Trp)), FHOD3(NM_001281740.2):c.238C>T (p.R80W), FHOD3(NM_001281740.3):c.238C>T (p.R80W), FHOD3(NM_025135.5)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855287" "0" "50" "18" "33935574" "33935574" "subst" "0.000190917" "02325" "FHOD3_000063" "g.33935574C>T" "" "" "" "FHOD3(NM_001281740.1):c.238C>T (p.(Arg80Trp)), FHOD3(NM_001281740.2):c.238C>T (p.R80W), FHOD3(NM_001281740.3):c.238C>T (p.R80W), FHOD3(NM_025135.5)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855288" "0" "30" "18" "34156439" "34156439" "subst" "4.06673E-6" "01943" "FHOD3_000064" "g.34156439G>A" "" "" "" "FHOD3(NM_001281740.2):c.537G>A (p.V179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855289" "0" "30" "18" "34232743" "34232743" "subst" "0" "01943" "FHOD3_000065" "g.34232743C>T" "" "" "" "FHOD3(NM_001281740.2):c.1497C>T (p.S499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855290" "0" "50" "18" "34339088" "34339088" "subst" "0" "02325" "FHOD3_000068" "g.34339088A>G" "" "" "" "FHOD3(NM_025135.5):c.3901-1483A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865680" "0" "50" "18" "34298521" "34298521" "subst" "5.27932E-5" "01943" "FHOD3_000066" "g.34298521G>A" "" "" "" "FHOD3(NM_001281740.2):c.3260G>A (p.R1087H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865681" "0" "50" "18" "34322791" "34322791" "subst" "2.84541E-5" "02325" "FHOD3_000067" "g.34322791C>A" "" "" "" "FHOD3(NM_025135.5):c.3326C>A (p.A1109D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865682" "0" "30" "18" "34340640" "34340640" "subst" "0.00036034" "01943" "FHOD3_000069" "g.34340640G>A" "" "" "" "FHOD3(NM_001281740.2):c.4519G>A (p.A1507T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865683" "0" "50" "18" "34359413" "34359413" "subst" "2.03548E-5" "02325" "FHOD3_000070" "g.34359413C>T" "" "" "" "FHOD3(NM_025135.5):c.4240C>T (p.R1414*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894518" "0" "50" "18" "33935574" "33935574" "subst" "0.000190917" "02330" "FHOD3_000063" "g.33935574C>T" "" "" "" "FHOD3(NM_001281740.1):c.238C>T (p.(Arg80Trp)), FHOD3(NM_001281740.2):c.238C>T (p.R80W), FHOD3(NM_001281740.3):c.238C>T (p.R80W), FHOD3(NM_025135.5)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894519" "0" "50" "18" "33952644" "33952644" "subst" "6.51508E-5" "02330" "FHOD3_000071" "g.33952644C>T" "" "" "" "FHOD3(NM_001281740.3):c.274C>T (p.R92W), FHOD3(NM_025135.5):c.274C>T (p.R92W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894520" "0" "50" "18" "33952644" "33952644" "subst" "6.51508E-5" "02325" "FHOD3_000071" "g.33952644C>T" "" "" "" "FHOD3(NM_001281740.3):c.274C>T (p.R92W), FHOD3(NM_025135.5):c.274C>T (p.R92W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894521" "0" "10" "18" "34156497" "34156497" "subst" "0.0300741" "02330" "FHOD3_000072" "g.34156497A>G" "" "" "" "FHOD3(NM_001281740.3):c.595A>G (p.I199V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894522" "0" "50" "18" "34174789" "34174789" "subst" "8.53763E-5" "02325" "FHOD3_000073" "g.34174789G>A" "" "" "" "FHOD3(NM_025135.5):c.646G>A (p.V216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894523" "0" "30" "18" "34182695" "34182695" "subst" "6.90344E-5" "02325" "FHOD3_000057" "g.34182695G>A" "" "" "" "FHOD3(NM_001281740.2):c.777G>A (p.T259=), FHOD3(NM_025135.5):c.777G>A (p.T259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894524" "0" "10" "18" "34205520" "34205520" "subst" "0.000486493" "02330" "FHOD3_000074" "g.34205520C>G" "" "" "" "FHOD3(NM_001281740.3):c.1004C>G (p.P335R), FHOD3(NM_025135.5):c.1004C>G (p.P335R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894525" "0" "10" "18" "34205521" "34205521" "subst" "0.00469067" "02330" "FHOD3_000075" "g.34205521C>A" "" "" "" "FHOD3(NM_001281740.3):c.1005C>A (p.P335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894526" "0" "10" "18" "34205551" "34205551" "subst" "0.0616894" "02330" "FHOD3_000076" "g.34205551C>T" "" "" "" "FHOD3(NM_001281740.3):c.1035C>T (p.S345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894527" "0" "50" "18" "34229358" "34229358" "subst" "0" "02325" "FHOD3_000031" "g.34229358G>A" "" "" "" "FHOD3(NM_001281740.2):c.1276G>A (p.G426S), FHOD3(NM_001281740.3):c.1276G>A (p.G426S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894528" "0" "10" "18" "34232543" "34232543" "subst" "0" "02330" "FHOD3_000077" "g.34232543G>A" "" "" "" "FHOD3(NM_001281740.3):c.1297G>A (p.A433T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894529" "0" "10" "18" "34232610" "34232610" "subst" "0" "02330" "FHOD3_000078" "g.34232610C>T" "" "" "" "FHOD3(NM_001281740.3):c.1364C>T (p.S455L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894530" "0" "10" "18" "34232636" "34232636" "subst" "0" "02330" "FHOD3_000017" "g.34232636C>T" "" "" "" "FHOD3(NM_001281740.2):c.1390C>T (p.L464F), FHOD3(NM_001281740.3):c.1390C>T (p.L464F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894531" "0" "10" "18" "34232657" "34232657" "subst" "0" "02330" "FHOD3_000079" "g.34232657G>A" "" "" "" "FHOD3(NM_001281740.3):c.1411G>A (p.G471R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894532" "0" "50" "18" "34232805" "34232805" "subst" "0" "02330" "FHOD3_000080" "g.34232805A>G" "" "" "" "FHOD3(NM_001281740.3):c.1559A>G (p.H520R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894533" "0" "50" "18" "34238130" "34238130" "subst" "0.000320457" "02330" "FHOD3_000081" "g.34238130C>G" "" "" "" "FHOD3(NM_001281740.3):c.1814C>G (p.P605R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894534" "0" "50" "18" "34238132" "34238132" "subst" "0" "02325" "FHOD3_000082" "g.34238132C>A" "" "" "" "FHOD3(NM_001281740.3):c.1816C>A (p.Q606K), FHOD3(NM_025135.5):c.1291C>A (p.Q431K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894535" "0" "10" "18" "34261473" "34261473" "subst" "0.00170104" "02330" "FHOD3_000021" "g.34261473G>A" "" "" "" "FHOD3(NM_001281740.2):c.1910G>A (p.R637Q), FHOD3(NM_001281740.3):c.1910G>A (p.R637Q), FHOD3(NM_025135.5):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894536" "0" "30" "18" "34261475" "34261475" "subst" "0.000431659" "02330" "FHOD3_000002" "g.34261475C>T" "" "" "" "FHOD3(NM_001281740.2):c.1912C>T (p.R638W), FHOD3(NM_001281740.3):c.1912C>T (p.R638W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894537" "0" "10" "18" "34261511" "34261511" "subst" "0.0104342" "02330" "FHOD3_000083" "g.34261511C>T" "" "" "" "FHOD3(NM_001281740.3):c.1948C>T (p.R650W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894538" "0" "10" "18" "34261559" "34261559" "del" "0" "02330" "FHOD3_000084" "g.34261559del" "" "" "" "FHOD3(NM_001281740.3):c.1970+26delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894539" "0" "50" "18" "34267110" "34267114" "del" "0" "02325" "FHOD3_000085" "g.34267110_34267114del" "" "" "" "FHOD3(NM_025135.5):c.1465_1469delAGAGA (p.R489Gfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894540" "0" "50" "18" "34273239" "34273239" "subst" "1.63003E-5" "02327" "FHOD3_000007" "g.34273239C>T" "" "" "" "FHOD3(NM_001281740.2):c.2089C>T (p.R697W), FHOD3(NM_025135.5):c.1564C>T (p.R522W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894541" "0" "10" "18" "34273250" "34273250" "subst" "0.00184216" "02330" "FHOD3_000086" "g.34273250C>T" "" "" "" "FHOD3(NM_001281740.3):c.2100C>T (p.A700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894542" "0" "10" "18" "34273279" "34273279" "subst" "0.133975" "02330" "FHOD3_000087" "g.34273279C>G" "" "" "" "FHOD3(NM_001281740.3):c.2129C>G (p.A710G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894543" "0" "50" "18" "34289069" "34289069" "del" "0" "02330" "FHOD3_000088" "g.34289069del" "" "" "" "FHOD3(NM_001281740.3):c.2248delG (p.D750Ifs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894544" "0" "10" "18" "34289142" "34289142" "subst" "0.0281237" "02330" "FHOD3_000089" "g.34289142A>G" "" "" "" "FHOD3(NM_001281740.3):c.2321A>G (p.Q774R, p.(Gln774Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894545" "0" "10" "18" "34289285" "34289285" "subst" "0.0139874" "02330" "FHOD3_000090" "g.34289285G>T" "" "" "" "FHOD3(NM_001281740.3):c.2464G>T (p.V822F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894546" "0" "10" "18" "34289364" "34289364" "subst" "0.131377" "02330" "FHOD3_000091" "g.34289364G>A" "" "" "" "FHOD3(NM_001281740.3):c.2533+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894547" "0" "10" "18" "34298045" "34298045" "subst" "5.5953E-5" "02330" "FHOD3_000024" "g.34298045C>T" "" "" "" "FHOD3(NM_001281740.3):c.2784C>T (p.V928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894548" "0" "30" "18" "34298151" "34298151" "subst" "2.44648E-5" "02325" "FHOD3_000048" "g.34298151G>T" "" "" "" "FHOD3(NM_001281740.1):c.2890G>T (p.(Val964Phe)), FHOD3(NM_001281740.2):c.2890G>T (p.V964F), FHOD3(NM_025135.5):c.2365G>T (p.V789F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894549" "0" "10" "18" "34298406" "34298406" "subst" "0.000667215" "02330" "FHOD3_000092" "g.34298406G>A" "" "" "" "FHOD3(NM_001281740.3):c.3145G>A (p.V1049I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894550" "0" "50" "18" "34298431" "34298431" "subst" "4.06458E-6" "02325" "FHOD3_000093" "g.34298431C>T" "" "" "" "FHOD3(NM_025135.5):c.2645C>T (p.P882L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894551" "0" "10" "18" "34298542" "34298542" "subst" "0.00257864" "02330" "FHOD3_000094" "g.34298542G>A" "" "" "" "FHOD3(NM_001281740.3):c.3281G>A (p.R1094Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894552" "0" "10" "18" "34310668" "34310668" "subst" "0.350952" "02330" "FHOD3_000095" "g.34310668C>T" "" "" "" "FHOD3(NM_001281740.3):c.3477C>T (p.N1159=), FHOD3(NM_025135.5):c.2952C>T (p.N984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894553" "0" "10" "18" "34320630" "34320630" "subst" "0.0161658" "02330" "FHOD3_000096" "g.34320630G>A" "" "" "" "FHOD3(NM_001281740.3):c.3588G>A (p.T1196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894554" "0" "50" "18" "34322822" "34322822" "subst" "0" "02325" "FHOD3_000097" "g.34322822A>C" "" "" "" "FHOD3(NM_025135.5):c.3354+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894555" "0" "10" "18" "34324091" "34324091" "subst" "0.342112" "02330" "FHOD3_000098" "g.34324091G>A" "" "" "" "FHOD3(NM_001281740.3):c.3976G>A (p.V1326I), FHOD3(NM_025135.5):c.3451G>A (p.V1151I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894556" "0" "10" "18" "34326982" "34326982" "subst" "0.00388772" "02330" "FHOD3_000099" "g.34326982G>A" "" "" "" "FHOD3(NM_001281740.3):c.4116G>A (p.K1372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894557" "0" "10" "18" "34340651" "34340651" "subst" "0.0114033" "02330" "FHOD3_000100" "g.34340651C>T" "" "" "" "FHOD3(NM_001281740.3):c.4530C>T (p.H1510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894558" "0" "10" "18" "34349252" "34349252" "subst" "0.00429385" "02330" "FHOD3_000101" "g.34349252G>C" "" "" "" "FHOD3(NM_001281740.3):c.4649G>C (p.G1550A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915049" "0" "50" "18" "34192029" "34192029" "subst" "5.28696E-5" "02330" "FHOD3_000102" "g.34192029G>A" "" "" "" "FHOD3(NM_001281740.3):c.928G>A (p.D310N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915050" "0" "10" "18" "34205470" "34205470" "subst" "0.00060872" "02330" "FHOD3_000030" "g.34205470C>T" "" "" "" "FHOD3(NM_001281740.2):c.958-4C>T, FHOD3(NM_001281740.3):c.958-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915051" "0" "10" "18" "34205566" "34205566" "subst" "0" "02330" "FHOD3_000103" "g.34205566C>T" "" "" "" "FHOD3(NM_001281740.3):c.1050C>T (p.G350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915052" "0" "50" "18" "34205669" "34205669" "subst" "0" "02329" "FHOD3_000104" "g.34205669G>C" "" "" "" "FHOD3(NM_001281740.3):c.1153G>C (p.A385P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915053" "0" "50" "18" "34261476" "34261476" "subst" "6.51084E-5" "02330" "FHOD3_000105" "g.34261476G>A" "" "" "" "FHOD3(NM_001281740.3):c.1913G>A (p.R638Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915054" "0" "10" "18" "34273314" "34273314" "subst" "0.00305952" "02330" "FHOD3_000106" "g.34273314C>T" "" "" "" "FHOD3(NM_001281740.3):c.2164C>T (p.P722S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915055" "0" "10" "18" "34273358" "34273358" "subst" "0.00333363" "02330" "FHOD3_000022" "g.34273358C>A" "" "" "" "FHOD3(NM_001281740.2):c.2208C>A (p.S736=), FHOD3(NM_001281740.3):c.2208C>A (p.S736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915056" "0" "50" "18" "34297872" "34297872" "subst" "0" "02330" "FHOD3_000107" "g.34297872C>T" "" "" "" "FHOD3(NM_001281740.3):c.2611C>T (p.L871F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915057" "0" "10" "18" "34310668" "34310668" "subst" "0.350952" "02325" "FHOD3_000095" "g.34310668C>T" "" "" "" "FHOD3(NM_001281740.3):c.3477C>T (p.N1159=), FHOD3(NM_025135.5):c.2952C>T (p.N984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915058" "0" "10" "18" "34324091" "34324091" "subst" "0.342112" "02325" "FHOD3_000098" "g.34324091G>A" "" "" "" "FHOD3(NM_001281740.3):c.3976G>A (p.V1326I), FHOD3(NM_025135.5):c.3451G>A (p.V1151I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915059" "0" "10" "18" "34359393" "34359393" "subst" "0.000114119" "02330" "FHOD3_000108" "g.34359393C>T" "" "" "" "FHOD3(NM_001281740.3):c.4787-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926729" "0" "10" "18" "34092519" "34092519" "subst" "0.00146947" "02330" "FHOD3_000109" "g.34092519T>G" "" "" "" "FHOD3(NM_001281740.3):c.511+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926730" "0" "30" "18" "34156465" "34156465" "subst" "0.000463758" "02330" "FHOD3_000110" "g.34156465G>A" "" "" "" "FHOD3(NM_001281740.3):c.563G>A (p.R188H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926731" "0" "50" "18" "34205488" "34205488" "subst" "6.58172E-6" "02330" "FHOD3_000111" "g.34205488C>G" "" "" "" "FHOD3(NM_001281740.3):c.972C>G (p.H324Q), FHOD3(NM_025135.5):c.972C>G (p.H324Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926732" "0" "50" "18" "34229278" "34229278" "subst" "0" "02330" "FHOD3_000112" "g.34229278G>A" "" "" "" "FHOD3(NM_001281740.3):c.1197-1G>A, FHOD3(NM_025135.5):c.1197-8760G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926733" "0" "50" "18" "34229340" "34229340" "subst" "0" "02330" "FHOD3_000113" "g.34229340G>A" "" "" "" "FHOD3(NM_001281740.3):c.1258G>A (p.D420N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926734" "0" "30" "18" "34233356" "34233356" "subst" "0" "02330" "FHOD3_000114" "g.34233356C>G" "" "" "" "FHOD3(NM_001281740.3):c.1698C>G (p.H566Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926735" "0" "10" "18" "34267078" "34267078" "subst" "0.000354516" "02330" "FHOD3_000115" "g.34267078A>G" "" "" "" "FHOD3(NM_001281740.3):c.1971-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926736" "0" "10" "18" "34289305" "34289305" "subst" "4.47398E-5" "02330" "FHOD3_000035" "g.34289305G>A" "" "" "" "FHOD3(NM_001281740.2):c.2484G>A (p.T828=), FHOD3(NM_001281740.3):c.2484G>A (p.T828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926737" "0" "10" "18" "34298168" "34298168" "subst" "0.000854304" "02330" "FHOD3_000116" "g.34298168G>A" "" "" "" "FHOD3(NM_001281740.3):c.2907G>A (p.P969=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926738" "0" "30" "18" "34298575" "34298575" "subst" "9.3398E-5" "02325" "FHOD3_000038" "g.34298575G>A" "" "" "" "FHOD3(NM_001281740.2):c.3314G>A (p.R1105H), FHOD3(NM_025135.5):c.2789G>A (p.R930H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926739" "0" "30" "18" "34320704" "34320704" "subst" "0.000548308" "02330" "FHOD3_000027" "g.34320704G>A" "" "" "" "FHOD3(NM_001281740.2):c.3662G>A (p.S1221N), FHOD3(NM_001281740.3):c.3662G>A (p.S1221N), FHOD3(NM_025135.5):c.3137G>A (p.S1046N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926740" "0" "10" "18" "34320811" "34320811" "subst" "5.92146E-5" "02330" "FHOD3_000117" "g.34320811C>T" "" "" "" "FHOD3(NM_001281740.3):c.3759+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926741" "0" "10" "18" "34340600" "34340600" "subst" "0.000873075" "02330" "FHOD3_000118" "g.34340600G>A" "" "" "" "FHOD3(NM_001281740.3):c.4479G>A (p.A1493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926742" "0" "10" "18" "34349354" "34349354" "subst" "0.0020328" "02330" "FHOD3_000119" "g.34349354G>A" "" "" "" "FHOD3(NM_001281740.3):c.4751G>A (p.R1584K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930953" "0" "50" "18" "34229278" "34229278" "subst" "0" "02325" "FHOD3_000112" "g.34229278G>A" "" "" "" "FHOD3(NM_001281740.3):c.1197-1G>A, FHOD3(NM_025135.5):c.1197-8760G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930954" "0" "50" "18" "34233359" "34233359" "subst" "0" "02330" "FHOD3_000052" "g.34233359C>A" "" "" "" "FHOD3(NM_001281740.2):c.1701C>A (p.F567L), FHOD3(NM_001281740.3):c.1701C>A (p.F567L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930955" "0" "50" "18" "34238132" "34238132" "subst" "0" "02330" "FHOD3_000082" "g.34238132C>A" "" "" "" "FHOD3(NM_001281740.3):c.1816C>A (p.Q606K), FHOD3(NM_025135.5):c.1291C>A (p.Q431K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930956" "0" "30" "18" "34289081" "34289081" "subst" "0.00115614" "02330" "FHOD3_000034" "g.34289081G>A" "" "" "" "FHOD3(NM_001281740.2):c.2260G>A (p.E754K), FHOD3(NM_001281740.3):c.2260G>A (p.E754K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930957" "0" "10" "18" "34289317" "34289317" "subst" "4.0701E-6" "02330" "FHOD3_000120" "g.34289317G>A" "" "" "" "FHOD3(NM_001281740.3):c.2496G>A (p.E832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930958" "0" "10" "18" "34297822" "34297827" "del" "0" "02330" "FHOD3_000121" "g.34297822_34297827del" "" "" "" "FHOD3(NM_001281740.3):c.2561_2566delCAGGTG (p.A854_G855del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930959" "0" "50" "18" "34310709" "34310709" "subst" "6.49831E-5" "02330" "FHOD3_000122" "g.34310709C>T" "" "" "" "FHOD3(NM_001281740.3):c.3518C>T (p.T1173M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951121" "0" "10" "18" "33952655" "33952655" "subst" "0" "02330" "FHOD3_000123" "g.33952655G>A" "" "" "" "FHOD3(NM_001281740.3):c.285G>A (p.K95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951122" "0" "50" "18" "33952675" "33952675" "subst" "4.06729E-6" "02325" "FHOD3_000124" "g.33952675C>T" "" "" "" "FHOD3(NM_025135.5):c.305C>T (p.T102M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951123" "0" "10" "18" "34081914" "34081914" "subst" "4.20147E-5" "02330" "FHOD3_000125" "g.34081914C>T" "" "" "" "FHOD3(NM_001281740.3):c.357C>T (p.S119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951124" "0" "10" "18" "34182699" "34182699" "subst" "4.06068E-6" "02330" "FHOD3_000126" "g.34182699C>T" "" "" "" "FHOD3(NM_001281740.3):c.781C>T (p.L261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951125" "0" "10" "18" "34182713" "34182713" "subst" "1.21838E-5" "02330" "FHOD3_000127" "g.34182713A>G" "" "" "" "FHOD3(NM_001281740.3):c.795A>G (p.A265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951126" "0" "50" "18" "34205488" "34205488" "subst" "6.58172E-6" "02325" "FHOD3_000111" "g.34205488C>G" "" "" "" "FHOD3(NM_001281740.3):c.972C>G (p.H324Q), FHOD3(NM_025135.5):c.972C>G (p.H324Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951127" "0" "10" "18" "34238099" "34238099" "subst" "0.000341717" "02330" "FHOD3_000019" "g.34238099C>T" "" "" "" "FHOD3(NM_001281740.2):c.1783C>T (p.P595S), FHOD3(NM_001281740.3):c.1783C>T (p.P595S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951128" "0" "10" "18" "34238168" "34238168" "subst" "0.000424027" "02330" "FHOD3_000128" "g.34238168C>T" "" "" "" "FHOD3(NM_001281740.3):c.1835+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951129" "0" "50" "18" "34289285" "34289299" "del" "0" "02325" "FHOD3_000129" "g.34289285_34289299del" "" "" "" "FHOD3(NM_025135.5):c.1939_1953delGTCTCGTCCTCCAGC (p.V647_S651del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951130" "0" "50" "18" "34298061" "34298061" "subst" "1.28612E-5" "02330" "FHOD3_000130" "g.34298061C>G" "" "" "" "FHOD3(NM_001281740.3):c.2800C>G (p.R934G), FHOD3(NM_025135.5):c.2275C>G (p.R759G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951131" "0" "50" "18" "34298327" "34298328" "ins" "0" "02329" "FHOD3_000131" "g.34298327_34298328insGC" "" "" "" "FHOD3(NM_001281740.3):c.3066_3067insGC (p.P1023Afs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951132" "0" "50" "18" "34320769" "34320769" "subst" "4.89488E-5" "02330" "FHOD3_000132" "g.34320769G>A" "" "" "" "FHOD3(NM_001281740.3):c.3727G>A (p.A1243T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951133" "0" "50" "18" "34349270" "34349270" "subst" "0.000109667" "02330" "FHOD3_000133" "g.34349270A>G" "" "" "" "FHOD3(NM_001281740.3):c.4667A>G (p.N1556S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969387" "0" "30" "18" "34191951" "34191951" "subst" "2.84761E-5" "02325" "FHOD3_000134" "g.34191951G>A" "" "" "" "FHOD3(NM_025135.5):c.850G>A (p.D284N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969388" "0" "10" "18" "34192019" "34192019" "subst" "0.00120307" "02330" "FHOD3_000135" "g.34192019G>A" "" "" "" "FHOD3(NM_001281740.3):c.918G>A (p.G306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969389" "0" "30" "18" "34205520" "34205520" "subst" "0.000486493" "02325" "FHOD3_000074" "g.34205520C>G" "" "" "" "FHOD3(NM_001281740.3):c.1004C>G (p.P335R), FHOD3(NM_025135.5):c.1004C>G (p.P335R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969390" "0" "10" "18" "34232797" "34232797" "subst" "0" "02330" "FHOD3_000136" "g.34232797C>T" "" "" "" "FHOD3(NM_001281740.3):c.1551C>T (p.Y517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969391" "0" "10" "18" "34232866" "34232866" "subst" "0" "02330" "FHOD3_000137" "g.34232866G>A" "" "" "" "FHOD3(NM_001281740.3):c.1620G>A (p.K540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969392" "0" "10" "18" "34238055" "34238055" "subst" "0.00117922" "02330" "FHOD3_000044" "g.34238055A>G" "" "" "" "FHOD3(NM_001281740.2):c.1739A>G (p.N580S), FHOD3(NM_001281740.3):c.1739A>G (p.N580S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969393" "0" "10" "18" "34273346" "34273346" "subst" "4.47981E-5" "02330" "FHOD3_000138" "g.34273346G>A" "" "" "" "FHOD3(NM_001281740.3):c.2196G>A (p.T732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969394" "0" "10" "18" "34289203" "34289203" "subst" "0.000564742" "02330" "FHOD3_000139" "g.34289203G>A" "" "" "" "FHOD3(NM_001281740.3):c.2382G>A (p.E794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969395" "0" "50" "18" "34298061" "34298061" "subst" "1.28612E-5" "02325" "FHOD3_000130" "g.34298061C>G" "" "" "" "FHOD3(NM_001281740.3):c.2800C>G (p.R934G), FHOD3(NM_025135.5):c.2275C>G (p.R759G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969396" "0" "50" "18" "34298068" "34298068" "subst" "8.53439E-6" "02325" "FHOD3_000140" "g.34298068G>C" "" "" "" "FHOD3(NM_025135.5):c.2282G>C (p.S761T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969397" "0" "10" "18" "34298333" "34298333" "subst" "0.23405" "02330" "FHOD3_000055" "g.34298333A>C" "" "" "" "FHOD3(NM_001281740.3):c.3072A>C (p.P1024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969398" "0" "10" "18" "34298339" "34298339" "subst" "0" "02330" "FHOD3_000141" "g.34298339A>C" "" "" "" "FHOD3(NM_001281740.3):c.3078A>C (p.P1026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969399" "0" "50" "18" "34310715" "34310715" "subst" "0" "02325" "FHOD3_000142" "g.34310715A>C" "" "" "" "FHOD3(NM_025135.5):c.2999A>C (p.K1000T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969400" "0" "30" "18" "34324114" "34324114" "subst" "6.90462E-5" "02325" "FHOD3_000143" "g.34324114C>T" "" "" "" "FHOD3(NM_001281740.3):c.3999C>T (p.S1333=), FHOD3(NM_025135.5):c.3474C>T (p.S1158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969401" "0" "50" "18" "34340632" "34340632" "subst" "0" "02330" "FHOD3_000144" "g.34340632C>T" "" "" "" "FHOD3(NM_001281740.3):c.4511C>T (p.A1504V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969402" "0" "10" "18" "34349311" "34349311" "subst" "0.000844883" "02330" "FHOD3_000004" "g.34349311G>A" "" "" "" "FHOD3(NM_001281740.2):c.4708G>A (p.V1570I), FHOD3(NM_001281740.3):c.4708G>A (p.V1570I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969403" "0" "10" "18" "34359433" "34359433" "subst" "4.07087E-6" "02330" "FHOD3_000145" "g.34359433C>A" "" "" "" "FHOD3(NM_001281740.3):c.4809C>A (p.G1603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983030" "0" "10" "18" "34174730" "34174730" "subst" "0.000170065" "02330" "FHOD3_000146" "g.34174730G>A" "" "" "" "FHOD3(NM_001281740.3):c.607-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983031" "0" "30" "18" "34182725" "34182725" "subst" "8.9343E-5" "02330" "FHOD3_000147" "g.34182725G>A" "" "" "" "FHOD3(NM_001281740.3):c.807G>A (p.V269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983032" "0" "10" "18" "34205479" "34205479" "subst" "0" "02330" "FHOD3_000148" "g.34205479G>A" "" "" "" "FHOD3(NM_001281740.3):c.963G>A (p.A321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983033" "0" "50" "18" "34205696" "34205696" "subst" "1.65489E-5" "02330" "FHOD3_000149" "g.34205696C>G" "" "" "" "FHOD3(NM_001281740.3):c.1180C>G (p.R394G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983034" "0" "50" "18" "34229311" "34229311" "subst" "0" "02330" "FHOD3_000150" "g.34229311C>T" "" "" "" "FHOD3(NM_001281740.3):c.1229C>T (p.T410M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983035" "0" "10" "18" "34229330" "34229330" "subst" "0" "02330" "FHOD3_000016" "g.34229330A>G" "" "" "" "FHOD3(NM_001281740.2):c.1248A>G (p.E416=), FHOD3(NM_001281740.3):c.1248A>G (p.E416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983036" "0" "50" "18" "34232654" "34232654" "subst" "0" "02330" "FHOD3_000151" "g.34232654G>C" "" "" "" "FHOD3(NM_001281740.3):c.1408G>C (p.G470R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983037" "0" "30" "18" "34233383" "34233383" "subst" "0" "02330" "FHOD3_000152" "g.34233383G>A" "" "" "" "FHOD3(NM_001281740.3):c.1721+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983038" "0" "30" "18" "34297994" "34297994" "subst" "3.80769E-5" "02330" "FHOD3_000153" "g.34297994C>T" "" "" "" "FHOD3(NM_001281740.3):c.2733C>T (p.T911=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983039" "0" "50" "18" "34298401" "34298401" "subst" "8.13862E-6" "02325" "FHOD3_000154" "g.34298401C>T" "" "" "" "FHOD3(NM_025135.5):c.2615C>T (p.P872L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983040" "0" "50" "18" "34349300" "34349300" "subst" "8.12315E-6" "02330" "FHOD3_000155" "g.34349300T>C" "" "" "" "FHOD3(NM_001281740.3):c.4697T>C (p.M1566T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004077" "0" "50" "18" "33877859" "33877859" "subst" "0" "02325" "FHOD3_000156" "g.33877859A>G" "" "" "" "FHOD3(NM_025135.5):c.61A>G (p.N21D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004078" "0" "30" "18" "33935574" "33935574" "subst" "0.000190917" "01804" "FHOD3_000063" "g.33935574C>T" "" "" "" "FHOD3(NM_001281740.1):c.238C>T (p.(Arg80Trp)), FHOD3(NM_001281740.2):c.238C>T (p.R80W), FHOD3(NM_001281740.3):c.238C>T (p.R80W), FHOD3(NM_025135.5)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004079" "0" "50" "18" "34205688" "34205688" "subst" "2.05771E-5" "02330" "FHOD3_000157" "g.34205688A>G" "" "" "" "FHOD3(NM_001281740.3):c.1172A>G (p.N391S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004080" "0" "70" "18" "34229370" "34229370" "del" "0" "02330" "FHOD3_000158" "g.34229370del" "" "" "" "FHOD3(NM_001281740.3):c.1286+2delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001004081" "0" "10" "18" "34232735" "34232735" "subst" "0" "02330" "FHOD3_000032" "g.34232735C>T" "" "" "" "FHOD3(NM_001281740.2):c.1489C>T (p.R497W), FHOD3(NM_001281740.3):c.1489C>T (p.R497W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001004082" "0" "30" "18" "34232803" "34232803" "subst" "0" "02325" "FHOD3_000159" "g.34232803C>T" "" "" "" "FHOD3(NM_025135.5):c.1197-5235C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004083" "0" "50" "18" "34298140" "34298140" "subst" "6.13557E-5" "02330" "FHOD3_000160" "g.34298140C>T" "" "" "" "FHOD3(NM_001281740.3):c.2879C>T (p.P960L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004084" "0" "30" "18" "34298151" "34298151" "subst" "2.44648E-5" "01804" "FHOD3_000048" "g.34298151G>T" "" "" "" "FHOD3(NM_001281740.1):c.2890G>T (p.(Val964Phe)), FHOD3(NM_001281740.2):c.2890G>T (p.V964F), FHOD3(NM_025135.5):c.2365G>T (p.V789F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004085" "0" "50" "18" "34298398" "34298398" "subst" "0" "02330" "FHOD3_000161" "g.34298398C>G" "" "" "" "FHOD3(NM_001281740.3):c.3137C>G (p.P1046R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004086" "0" "50" "18" "34298572" "34298572" "subst" "4.87278E-5" "02330" "FHOD3_000162" "g.34298572G>A" "" "" "" "FHOD3(NM_001281740.3):c.3311G>A (p.R1104Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004087" "0" "10" "18" "34339069" "34339069" "subst" "0" "02330" "FHOD3_000163" "g.34339069C>T" "" "" "" "FHOD3(NM_001281740.3):c.4426-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015689" "0" "30" "18" "34156527" "34156527" "subst" "0" "02326" "FHOD3_000164" "g.34156527T>C" "" "" "" "FHOD3(NM_001281740.3):c.606+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015690" "0" "10" "18" "34174806" "34174806" "subst" "0.000593549" "02330" "FHOD3_000056" "g.34174806G>A" "" "" "" "FHOD3(NM_001281740.2):c.663G>A (p.S221=), FHOD3(NM_001281740.3):c.663G>A (p.S221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015691" "0" "50" "18" "34174819" "34174819" "subst" "4.06673E-6" "02325" "FHOD3_000165" "g.34174819C>T" "" "" "" "FHOD3(NM_025135.5):c.676C>T (p.P226S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015692" "0" "30" "18" "34182617" "34182617" "subst" "8.12519E-6" "02326" "FHOD3_000166" "g.34182617G>T" "" "" "" "FHOD3(NM_001281740.3):c.719-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015693" "0" "50" "18" "34205508" "34205508" "subst" "0" "02325" "FHOD3_000167" "g.34205508C>G" "" "" "" "FHOD3(NM_025135.5):c.992C>G (p.T331R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015694" "0" "50" "18" "34205552" "34205552" "subst" "2.6304E-5" "02325" "FHOD3_000168" "g.34205552G>A" "" "" "" "FHOD3(NM_025135.5):c.1036G>A (p.V346M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015695" "0" "10" "18" "34205580" "34205580" "subst" "0.00029771" "02330" "FHOD3_000169" "g.34205580G>A" "" "" "" "FHOD3(NM_001281740.3):c.1064G>A (p.R355Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015696" "0" "30" "18" "34229312" "34229312" "subst" "0" "02325" "FHOD3_000170" "g.34229312G>A" "" "" "" "FHOD3(NM_025135.5):c.1197-8726G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015697" "0" "50" "18" "34233364" "34233364" "subst" "0" "02326" "FHOD3_000171" "g.34233364C>G" "" "" "" "FHOD3(NM_001281740.3):c.1706C>G (p.S569C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015698" "0" "10" "18" "34310641" "34310641" "subst" "4.47296E-5" "02330" "FHOD3_000172" "g.34310641C>T" "" "" "" "FHOD3(NM_001281740.3):c.3450C>T (p.I1150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015699" "0" "30" "18" "34359393" "34359393" "subst" "0.000114119" "02326" "FHOD3_000108" "g.34359393C>T" "" "" "" "FHOD3(NM_001281740.3):c.4787-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027104" "0" "30" "18" "34081902" "34081902" "subst" "1.27561E-5" "02330" "FHOD3_000173" "g.34081902A>G" "" "" "" "FHOD3(NM_001281740.3):c.345A>G (p.L115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027105" "0" "50" "18" "34092404" "34092404" "subst" "4.06332E-6" "02330" "FHOD3_000174" "g.34092404G>A" "" "" "" "FHOD3(NM_001281740.3):c.409G>A (p.D137N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027106" "0" "30" "18" "34156516" "34156516" "del" "0" "02325" "FHOD3_000011" "g.34156516del" "" "" "" "FHOD3(NM_001281740.2):c.606+8delG, FHOD3(NM_025135.5):c.606+8delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027107" "0" "30" "18" "34174816" "34174816" "subst" "0.000662833" "02326" "FHOD3_000175" "g.34174816G>A" "" "" "" "FHOD3(NM_001281740.3):c.673G>A (p.A225T), FHOD3(NM_025135.5):c.673G>A (p.A225T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027108" "0" "50" "18" "34191978" "34191978" "subst" "1.62536E-5" "02326" "FHOD3_000013" "g.34191978G>A" "" "" "" "FHOD3(NM_001281740.3):c.877G>A (p.G293S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027109" "0" "30" "18" "34205457" "34205457" "subst" "8.60437E-5" "02330" "FHOD3_000176" "g.34205457G>A" "" "" "" "FHOD3(NM_001281740.3):c.958-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027110" "0" "30" "18" "34205655" "34205655" "subst" "0.000246271" "02326" "FHOD3_000177" "g.34205655C>T" "" "" "" "FHOD3(NM_001281740.3):c.1139C>T (p.P380L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027111" "0" "10" "18" "34232627" "34232627" "subst" "0" "02330" "FHOD3_000178" "g.34232627G>A" "" "" "" "FHOD3(NM_001281740.3):c.1381G>A (p.G461R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027112" "0" "30" "18" "34238062" "34238062" "subst" "5.02849E-5" "02330" "FHOD3_000033" "g.34238062T>C" "" "" "" "FHOD3(NM_001281740.2):c.1746T>C (p.S582=), FHOD3(NM_001281740.3):c.1746T>C (p.S582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027113" "0" "50" "18" "34238120" "34238120" "subst" "2.71297E-5" "02330" "FHOD3_000179" "g.34238120G>A" "" "" "" "FHOD3(NM_001281740.3):c.1804G>A (p.V602I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027114" "0" "10" "18" "34267086" "34267086" "subst" "2.46384E-5" "02330" "FHOD3_000180" "g.34267086A>G" "" "" "" "FHOD3(NM_001281740.3):c.1971-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027115" "0" "50" "18" "34267143" "34267143" "subst" "0" "02325" "FHOD3_000181" "g.34267143T>C" "" "" "" "FHOD3(NM_025135.5):c.1496+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027116" "0" "50" "18" "34273251" "34273251" "subst" "4.07628E-6" "02326" "FHOD3_000182" "g.34273251G>C" "" "" "" "FHOD3(NM_001281740.3):c.2101G>C (p.D701H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027117" "0" "10" "18" "34273274" "34273274" "subst" "0.000615131" "02326" "FHOD3_000183" "g.34273274G>A" "" "" "" "FHOD3(NM_001281740.3):c.2124G>A (p.S708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027118" "0" "50" "18" "34298062" "34298062" "subst" "2.1412E-5" "02325" "FHOD3_000184" "g.34298062G>A" "" "" "" "FHOD3(NM_025135.5):c.2276G>A (p.R759Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027119" "0" "50" "18" "34298359" "34298359" "subst" "3.5084E-5" "02326" "FHOD3_000185" "g.34298359C>T" "" "" "" "FHOD3(NM_001281740.3):c.3098C>T (p.P1033L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027120" "0" "50" "18" "34320704" "34320704" "subst" "0.000548308" "02326" "FHOD3_000027" "g.34320704G>A" "" "" "" "FHOD3(NM_001281740.2):c.3662G>A (p.S1221N), FHOD3(NM_001281740.3):c.3662G>A (p.S1221N), FHOD3(NM_025135.5):c.3137G>A (p.S1046N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042415" "0" "30" "18" "34174816" "34174816" "subst" "0.000662833" "02325" "FHOD3_000175" "g.34174816G>A" "" "" "" "FHOD3(NM_001281740.3):c.673G>A (p.A225T), FHOD3(NM_025135.5):c.673G>A (p.A225T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042416" "0" "30" "18" "34261542" "34261542" "subst" "0.00111619" "02330" "FHOD3_000045" "g.34261542G>A" "" "" "" "FHOD3(NM_001281740.2):c.1970+9G>A, FHOD3(NM_001281740.3):c.1970+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042417" "0" "50" "18" "34273239" "34273239" "subst" "1.63003E-5" "02325" "FHOD3_000007" "g.34273239C>T" "" "" "" "FHOD3(NM_001281740.2):c.2089C>T (p.R697W), FHOD3(NM_025135.5):c.1564C>T (p.R522W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042418" "0" "30" "18" "34289116" "34289116" "subst" "3.66599E-5" "02330" "FHOD3_000186" "g.34289116G>A" "" "" "" "FHOD3(NM_001281740.3):c.2295G>A (p.A765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042419" "0" "30" "18" "34324114" "34324114" "subst" "6.90462E-5" "02326" "FHOD3_000143" "g.34324114C>T" "" "" "" "FHOD3(NM_001281740.3):c.3999C>T (p.S1333=), FHOD3(NM_025135.5):c.3474C>T (p.S1158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042420" "0" "50" "18" "34335186" "34335186" "subst" "8.14306E-6" "02325" "FHOD3_000187" "g.34335186G>A" "" "" "" "FHOD3(NM_025135.5):c.3812G>A (p.R1271H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042421" "0" "50" "18" "34340696" "34340696" "subst" "0" "02326" "FHOD3_000188" "g.34340696G>C" "" "" "" "FHOD3(NM_001281740.3):c.4575G>C (p.E1525D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046695" "0" "30" "18" "34238130" "34238130" "subst" "0.000320457" "02326" "FHOD3_000081" "g.34238130C>G" "" "" "" "FHOD3(NM_001281740.3):c.1814C>G (p.P605R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046696" "0" "30" "18" "34261473" "34261473" "subst" "0.00170104" "02326" "FHOD3_000021" "g.34261473G>A" "" "" "" "FHOD3(NM_001281740.2):c.1910G>A (p.R637Q), FHOD3(NM_001281740.3):c.1910G>A (p.R637Q), FHOD3(NM_025135.5):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046697" "0" "30" "18" "34261475" "34261475" "subst" "0.000431659" "02326" "FHOD3_000002" "g.34261475C>T" "" "" "" "FHOD3(NM_001281740.2):c.1912C>T (p.R638W), FHOD3(NM_001281740.3):c.1912C>T (p.R638W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046698" "0" "50" "18" "34310768" "34310768" "subst" "0" "02325" "FHOD3_000189" "g.34310768G>T" "" "" "" "FHOD3(NM_025135.5):c.3051+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046699" "0" "50" "18" "34320754" "34320754" "subst" "0" "02325" "FHOD3_000190" "g.34320754C>T" "" "" "" "FHOD3(NM_025135.5):c.3187C>T (p.R1063*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056320" "0" "30" "18" "34289142" "34289142" "subst" "0.0281237" "01804" "FHOD3_000089" "g.34289142A>G" "" "" "" "FHOD3(NM_001281740.3):c.2321A>G (p.Q774R, p.(Gln774Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066974" "0" "30" "18" "34047003" "34047003" "subst" "0" "02325" "FHOD3_000191" "g.34047003C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066975" "0" "30" "18" "34232636" "34232636" "subst" "0" "02325" "FHOD3_000017" "g.34232636C>T" "" "" "" "FHOD3(NM_001281740.2):c.1390C>T (p.L464F), FHOD3(NM_001281740.3):c.1390C>T (p.L464F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066976" "0" "50" "18" "34232668" "34232668" "subst" "0" "02325" "FHOD3_000192" "g.34232668G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066977" "0" "30" "18" "34261475" "34261475" "subst" "0.000431659" "02327" "FHOD3_000002" "g.34261475C>T" "" "" "" "FHOD3(NM_001281740.2):c.1912C>T (p.R638W), FHOD3(NM_001281740.3):c.1912C>T (p.R638W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066978" "0" "30" "18" "34298074" "34298074" "subst" "9.37183E-5" "02325" "FHOD3_000193" "g.34298074A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066979" "0" "50" "18" "34298221" "34298221" "subst" "0" "02325" "FHOD3_000194" "g.34298221C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001075801" "0" "50" "18" "34261476" "34261476" "subst" "6.51084E-5" "00006" "FHOD3_000105" "g.34261476G>A" "" "{PMID:Sambuughin 2024:39457051}" "" "" "combination with other variants not reported" "Germline/De novo (untested)" "" "rs780516974" "0" "" "" "g.36681513G>A" "" "VUS" "" "0001077973" "0" "50" "18" "34298423" "34298423" "subst" "8.12968E-6" "03779" "FHOD3_000195" "g.34298423G>T" "" "" "" "" "" "Unknown" "" "rs764109970" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FHOD3 ## Count = 251 "{{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}}" "0000255931" "00007954" "50" "1421" "0" "1421" "0" "c.1421A>G" "r.(?)" "p.(Glu474Gly)" "" "0000287515" "00007954" "50" "4159" "0" "4159" "0" "c.4159G>A" "r.(?)" "p.(Val1387Ile)" "" "0000290212" "00007954" "50" "53949" "0" "53949" "0" "c.*49629del" "r.(?)" "p.(=)" "" "0000564730" "00007954" "30" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(Thr191=)" "" "0000564731" "00007954" "30" "1266" "0" "1266" "0" "c.1266C>G" "r.(?)" "p.(Thr422=)" "" "0000564732" "00007954" "30" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463Trp)" "" "0000564733" "00007954" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Trp)" "" "0000564734" "00007954" "30" "2390" "0" "2390" "0" "c.2390C>T" "r.(?)" "p.(Pro797Leu)" "" "0000617132" "00007954" "30" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Ala44=)" "" "0000617133" "00007954" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Val141=)" "" "0000617134" "00007954" "30" "606" "8" "606" "8" "c.606+8del" "r.(=)" "p.(=)" "" "0000617135" "00007954" "30" "606" "8" "606" "8" "c.606+8del" "r.(=)" "p.(=)" "" "0000617136" "00007954" "50" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Ser)" "" "0000617137" "00007954" "30" "1044" "0" "1044" "0" "c.1044C>T" "r.(?)" "p.(Ser348=)" "" "0000617138" "00007954" "50" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Arg363His)" "" "0000617139" "00007954" "30" "1197" "-8708" "1197" "-8708" "c.1197-8708A>G" "r.(=)" "p.(=)" "" "0000617140" "00007954" "30" "1197" "-5402" "1197" "-5402" "c.1197-5402C>T" "r.(=)" "p.(=)" "" "0000617141" "00007954" "50" "1197" "-5257" "1197" "-5257" "c.1197-5257T>C" "r.(=)" "p.(=)" "" "0000617142" "00007954" "30" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Pro420Ser)" "" "0000617143" "00007954" "30" "1356" "0" "1356" "0" "c.1356A>G" "r.(?)" "p.(Gln452=)" "" "0000617144" "00007954" "30" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000617145" "00007954" "30" "1734" "0" "1734" "0" "c.1734C>G" "r.(?)" "p.(Pro578=)" "" "0000617146" "00007954" "30" "2259" "0" "2259" "0" "c.2259C>T" "r.(?)" "p.(Val753=)" "" "0000617147" "00007954" "30" "2586" "0" "2586" "0" "c.2586T>C" "r.(?)" "p.(Pro862=)" "" "0000617148" "00007954" "30" "2589" "0" "2589" "0" "c.2589G>C" "r.(?)" "p.(Pro863=)" "" "0000617149" "00007954" "30" "3137" "0" "3137" "0" "c.3137G>A" "r.(?)" "p.(Ser1046Asn)" "" "0000617150" "00007954" "30" "3137" "0" "3137" "0" "c.3137G>A" "r.(?)" "p.(Ser1046Asn)" "" "0000617151" "00007954" "50" "3333" "0" "3333" "0" "c.3333G>T" "r.(?)" "p.(Gly1111=)" "" "0000617152" "00007954" "30" "3956" "0" "3956" "0" "c.3956G>T" "r.(?)" "p.(Ser1319Ile)" "" "0000623843" "00007954" "30" "814" "-6" "814" "-6" "c.814-6T>C" "r.(=)" "p.(=)" "" "0000623844" "00007954" "30" "1683" "0" "1683" "0" "c.1683C>A" "r.(?)" "p.(Ser561=)" "" "0000658364" "00007954" "30" "958" "-4" "958" "-4" "c.958-4C>T" "r.spl?" "p.?" "" "0000658365" "00007954" "30" "1197" "-8680" "1197" "-8680" "c.1197-8680G>A" "r.(=)" "p.(=)" "" "0000658366" "00007954" "30" "1197" "-5303" "1197" "-5303" "c.1197-5303C>T" "r.(=)" "p.(=)" "" "0000658367" "00007954" "30" "1221" "0" "1221" "0" "c.1221T>C" "r.(?)" "p.(Ser407=)" "" "0000658368" "00007954" "30" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Glu579Lys)" "" "0000658369" "00007954" "30" "1959" "0" "1959" "0" "c.1959G>A" "r.(?)" "p.(Thr653=)" "" "0000658370" "00007954" "30" "2216" "0" "2216" "0" "c.2216C>G" "r.(?)" "p.(Ala739Gly)" "" "0000658371" "00007954" "30" "2586" "0" "2586" "0" "c.2586T>A" "r.(?)" "p.(Pro862=)" "" "0000658372" "00007954" "50" "2789" "0" "2789" "0" "c.2789G>A" "r.(?)" "p.(Arg930His)" "" "0000658373" "00007954" "50" "3901" "-1465" "3901" "-1465" "c.3901-1465T>C" "r.(=)" "p.(=)" "" "0000658374" "00007954" "30" "3998" "0" "3998" "0" "c.3998T>C" "r.(?)" "p.(Val1333Ala)" "" "0000658375" "00007954" "30" "4203" "0" "4203" "0" "c.4203G>A" "r.(?)" "p.(Arg1401=)" "" "0000681136" "00007954" "50" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Gly337Glu)" "" "0000681137" "00007954" "50" "1197" "-5212" "1197" "-5212" "c.1197-5212C>T" "r.(=)" "p.(=)" "" "0000681138" "00007954" "30" "1214" "0" "1214" "0" "c.1214A>G" "r.(?)" "p.(Asn405Ser)" "" "0000681139" "00007954" "30" "1445" "9" "1445" "9" "c.1445+9G>A" "r.(=)" "p.(=)" "" "0000681140" "00007954" "30" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(His511=)" "" "0000681141" "00007954" "50" "1859" "0" "1859" "0" "c.1859C>G" "r.(?)" "p.(Pro620Arg)" "" "0000681142" "00007954" "30" "2365" "0" "2365" "0" "c.2365G>T" "r.(?)" "p.(Val789Phe)" "" "0000692591" "00007954" "30" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Pro420Ser)" "" "0000692592" "00007954" "50" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Glu474Lys)" "" "0000692593" "00007954" "30" "1496" "6" "1496" "6" "c.1496+6T>C" "r.(=)" "p.(=)" "" "0000704362" "00007954" "50" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Gly617Asp)" "" "0000726877" "00007954" "30" "1197" "-4679" "1197" "-4679" "c.1197-4679C>A" "r.(=)" "p.(=)" "" "0000726878" "00007954" "30" "2588" "0" "2588" "0" "c.2588C>T" "r.(?)" "p.(Pro863Leu)" "" "0000726879" "00007954" "50" "3076" "0" "3076" "0" "c.3076G>T" "r.(?)" "p.(Asp1026Tyr)" "" "0000734854" "00007954" "30" "2547" "0" "2547" "0" "c.2547A>C" "r.(=)" "p.(=)" "" "0000808472" "00007954" "30" "663" "0" "663" "0" "c.663G>A" "r.(?)" "p.(Ser221=)" "" "0000808473" "00007954" "30" "777" "0" "777" "0" "c.777G>A" "r.(?)" "p.(Thr259=)" "" "0000808474" "00007954" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Tyr283=)" "" "0000808475" "00007954" "50" "1197" "-8747" "1197" "-8745" "c.1197-8747_1197-8745dup" "r.(=)" "p.(=)" "" "0000808476" "00007954" "30" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000808477" "00007954" "30" "2357" "0" "2357" "0" "c.2357A>G" "r.(?)" "p.(Asn786Ser)" "" "0000808478" "00007954" "50" "2555" "0" "2555" "0" "c.2555C>A" "r.(?)" "p.(Pro852His)" "" "0000808479" "00007954" "30" "3137" "0" "3137" "0" "c.3137G>A" "r.(?)" "p.(Ser1046Asn)" "" "0000808480" "00007954" "50" "3605" "0" "3605" "0" "c.3605A>G" "r.(?)" "p.(His1202Arg)" "" "0000808481" "00007954" "50" "3998" "0" "3998" "0" "c.3998T>C" "r.(?)" "p.(Val1333Ala)" "" "0000855286" "00007954" "50" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Arg80Trp)" "" "0000855287" "00007954" "50" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Arg80Trp)" "" "0000855288" "00007954" "30" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Val179=)" "" "0000855289" "00007954" "30" "1197" "-5295" "1197" "-5295" "c.1197-5295C>T" "r.(=)" "p.(=)" "" "0000855290" "00007954" "50" "3901" "-1483" "3901" "-1483" "c.3901-1483A>G" "r.(=)" "p.(=)" "" "0000865680" "00007954" "50" "2735" "0" "2735" "0" "c.2735G>A" "r.(?)" "p.(Arg912His)" "" "0000865681" "00007954" "50" "3326" "0" "3326" "0" "c.3326C>A" "r.(?)" "p.(Ala1109Asp)" "" "0000865682" "00007954" "30" "3970" "0" "3970" "0" "c.3970G>A" "r.(?)" "p.(Ala1324Thr)" "" "0000865683" "00007954" "50" "4240" "0" "4240" "0" "c.4240C>T" "r.(?)" "p.(Arg1414*)" "" "0000894518" "00007954" "50" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Arg80Trp)" "" "0000894519" "00007954" "50" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000894520" "00007954" "50" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000894521" "00007954" "10" "595" "0" "595" "0" "c.595A>G" "r.(?)" "p.(Ile199Val)" "" "0000894522" "00007954" "50" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Val216Ile)" "" "0000894523" "00007954" "30" "777" "0" "777" "0" "c.777G>A" "r.(?)" "p.(Thr259=)" "" "0000894524" "00007954" "10" "1004" "0" "1004" "0" "c.1004C>G" "r.(?)" "p.(Pro335Arg)" "" "0000894525" "00007954" "10" "1005" "0" "1005" "0" "c.1005C>A" "r.(?)" "p.(Pro335=)" "" "0000894526" "00007954" "10" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(Ser345=)" "" "0000894527" "00007954" "50" "1197" "-8680" "1197" "-8680" "c.1197-8680G>A" "r.(=)" "p.(=)" "" "0000894528" "00007954" "10" "1197" "-5495" "1197" "-5495" "c.1197-5495G>A" "r.(=)" "p.(=)" "" "0000894529" "00007954" "10" "1197" "-5428" "1197" "-5428" "c.1197-5428C>T" "r.(=)" "p.(=)" "" "0000894530" "00007954" "10" "1197" "-5402" "1197" "-5402" "c.1197-5402C>T" "r.(=)" "p.(=)" "" "0000894531" "00007954" "10" "1197" "-5381" "1197" "-5381" "c.1197-5381G>A" "r.(=)" "p.(=)" "" "0000894532" "00007954" "50" "1197" "-5233" "1197" "-5233" "c.1197-5233A>G" "r.(=)" "p.(=)" "" "0000894533" "00007954" "50" "1289" "0" "1289" "0" "c.1289C>G" "r.(?)" "p.(Pro430Arg)" "" "0000894534" "00007954" "50" "1291" "0" "1291" "0" "c.1291C>A" "r.(?)" "p.(Gln431Lys)" "" "0000894535" "00007954" "10" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000894536" "00007954" "30" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463Trp)" "" "0000894537" "00007954" "10" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Arg475Trp)" "" "0000894538" "00007954" "10" "1445" "26" "1445" "26" "c.1445+26del" "r.(=)" "p.(=)" "" "0000894539" "00007954" "50" "1465" "0" "1469" "0" "c.1465_1469del" "r.(?)" "p.(Arg489Glyfs*19)" "" "0000894540" "00007954" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Trp)" "" "0000894541" "00007954" "10" "1575" "0" "1575" "0" "c.1575C>T" "r.(?)" "p.(Ala525=)" "" "0000894542" "00007954" "10" "1604" "0" "1604" "0" "c.1604C>G" "r.(?)" "p.(Ala535Gly)" "" "0000894543" "00007954" "50" "1723" "0" "1723" "0" "c.1723del" "r.(?)" "p.(Asp575Ilefs*27)" "" "0000894544" "00007954" "10" "1796" "0" "1796" "0" "c.1796A>G" "r.(?)" "p.(Gln599Arg)" "" "0000894545" "00007954" "10" "1939" "0" "1939" "0" "c.1939G>T" "r.(?)" "p.(Val647Phe)" "" "0000894546" "00007954" "10" "2008" "10" "2008" "10" "c.2008+10G>A" "r.(=)" "p.(=)" "" "0000894547" "00007954" "10" "2259" "0" "2259" "0" "c.2259C>T" "r.(?)" "p.(Val753=)" "" "0000894548" "00007954" "30" "2365" "0" "2365" "0" "c.2365G>T" "r.(?)" "p.(Val789Phe)" "" "0000894549" "00007954" "10" "2620" "0" "2620" "0" "c.2620G>A" "r.(?)" "p.(Val874Ile)" "" "0000894550" "00007954" "50" "2645" "0" "2645" "0" "c.2645C>T" "r.(?)" "p.(Pro882Leu)" "" "0000894551" "00007954" "10" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Arg919Gln)" "" "0000894552" "00007954" "10" "2952" "0" "2952" "0" "c.2952C>T" "r.(?)" "p.(Asn984=)" "" "0000894553" "00007954" "10" "3063" "0" "3063" "0" "c.3063G>A" "r.(?)" "p.(Thr1021=)" "" "0000894554" "00007954" "50" "3354" "3" "3354" "3" "c.3354+3A>C" "r.spl?" "p.?" "" "0000894555" "00007954" "10" "3451" "0" "3451" "0" "c.3451G>A" "r.(?)" "p.(Val1151Ile)" "" "0000894556" "00007954" "10" "3591" "0" "3591" "0" "c.3591G>A" "r.(?)" "p.(Lys1197=)" "" "0000894557" "00007954" "10" "3981" "0" "3981" "0" "c.3981C>T" "r.(?)" "p.(His1327=)" "" "0000894558" "00007954" "10" "4100" "0" "4100" "0" "c.4100G>C" "r.(?)" "p.(Gly1367Ala)" "" "0000915049" "00007954" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Asp310Asn)" "" "0000915050" "00007954" "10" "958" "-4" "958" "-4" "c.958-4C>T" "r.spl?" "p.?" "" "0000915051" "00007954" "10" "1050" "0" "1050" "0" "c.1050C>T" "r.(?)" "p.(Gly350=)" "" "0000915052" "00007954" "50" "1153" "0" "1153" "0" "c.1153G>C" "r.(?)" "p.(Ala385Pro)" "" "0000915053" "00007954" "50" "1388" "0" "1388" "0" "c.1388G>A" "r.(?)" "p.(Arg463Gln)" "" "0000915054" "00007954" "10" "1639" "0" "1639" "0" "c.1639C>T" "r.(?)" "p.(Pro547Ser)" "" "0000915055" "00007954" "10" "1683" "0" "1683" "0" "c.1683C>A" "r.(?)" "p.(Ser561=)" "" "0000915056" "00007954" "50" "2086" "0" "2086" "0" "c.2086C>T" "r.(?)" "p.(Leu696Phe)" "" "0000915057" "00007954" "10" "2952" "0" "2952" "0" "c.2952C>T" "r.(?)" "p.(Asn984=)" "" "0000915058" "00007954" "10" "3451" "0" "3451" "0" "c.3451G>A" "r.(?)" "p.(Val1151Ile)" "" "0000915059" "00007954" "10" "4238" "-18" "4238" "-18" "c.4238-18C>T" "r.(=)" "p.(=)" "" "0000926729" "00007954" "10" "511" "13" "511" "13" "c.511+13T>G" "r.(=)" "p.(=)" "" "0000926730" "00007954" "30" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188His)" "" "0000926731" "00007954" "50" "972" "0" "972" "0" "c.972C>G" "r.(?)" "p.(His324Gln)" "" "0000926732" "00007954" "50" "1197" "-8760" "1197" "-8760" "c.1197-8760G>A" "r.(=)" "p.(=)" "" "0000926733" "00007954" "50" "1197" "-8698" "1197" "-8698" "c.1197-8698G>A" "r.(=)" "p.(=)" "" "0000926734" "00007954" "30" "1197" "-4682" "1197" "-4682" "c.1197-4682C>G" "r.(=)" "p.(=)" "" "0000926735" "00007954" "10" "1446" "-13" "1446" "-13" "c.1446-13A>G" "r.(=)" "p.(=)" "" "0000926736" "00007954" "10" "1959" "0" "1959" "0" "c.1959G>A" "r.(?)" "p.(Thr653=)" "" "0000926737" "00007954" "10" "2382" "0" "2382" "0" "c.2382G>A" "r.(?)" "p.(Pro794=)" "" "0000926738" "00007954" "30" "2789" "0" "2789" "0" "c.2789G>A" "r.(?)" "p.(Arg930His)" "" "0000926739" "00007954" "30" "3137" "0" "3137" "0" "c.3137G>A" "r.(?)" "p.(Ser1046Asn)" "" "0000926740" "00007954" "10" "3234" "10" "3234" "10" "c.3234+10C>T" "r.(=)" "p.(=)" "" "0000926741" "00007954" "10" "3930" "0" "3930" "0" "c.3930G>A" "r.(?)" "p.(Ala1310=)" "" "0000926742" "00007954" "10" "4202" "0" "4202" "0" "c.4202G>A" "r.(?)" "p.(Arg1401Lys)" "" "0000930953" "00007954" "50" "1197" "-8760" "1197" "-8760" "c.1197-8760G>A" "r.(=)" "p.(=)" "" "0000930954" "00007954" "50" "1197" "-4679" "1197" "-4679" "c.1197-4679C>A" "r.(=)" "p.(=)" "" "0000930955" "00007954" "50" "1291" "0" "1291" "0" "c.1291C>A" "r.(?)" "p.(Gln431Lys)" "" "0000930956" "00007954" "30" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Glu579Lys)" "" "0000930957" "00007954" "10" "1971" "0" "1971" "0" "c.1971G>A" "r.(?)" "p.(=)" "" "0000930958" "00007954" "10" "2036" "0" "2041" "0" "c.2036_2041del" "r.(?)" "p.(Ala679_Gly680del)" "" "0000930959" "00007954" "50" "2993" "0" "2993" "0" "c.2993C>T" "r.(?)" "p.(Thr998Met)" "" "0000951121" "00007954" "10" "285" "0" "285" "0" "c.285G>A" "r.(?)" "p.(=)" "" "0000951122" "00007954" "50" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Thr102Met)" "" "0000951123" "00007954" "10" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(=)" "" "0000951124" "00007954" "10" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(=)" "" "0000951125" "00007954" "10" "795" "0" "795" "0" "c.795A>G" "r.(?)" "p.(=)" "" "0000951126" "00007954" "50" "972" "0" "972" "0" "c.972C>G" "r.(?)" "p.(His324Gln)" "" "0000951127" "00007954" "10" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Pro420Ser)" "" "0000951128" "00007954" "10" "1310" "17" "1310" "17" "c.1310+17C>T" "r.(=)" "p.(=)" "" "0000951129" "00007954" "50" "1939" "0" "1953" "0" "c.1939_1953del" "r.(?)" "p.(Val647_Ser651del)" "" "0000951130" "00007954" "50" "2275" "0" "2275" "0" "c.2275C>G" "r.(?)" "p.(Arg759Gly)" "" "0000951131" "00007954" "50" "2541" "0" "2542" "0" "c.2541_2542insGC" "r.(?)" "p.(Pro848Alafs*46)" "" "0000951132" "00007954" "50" "3202" "0" "3202" "0" "c.3202G>A" "r.(?)" "p.(Ala1068Thr)" "" "0000951133" "00007954" "50" "4118" "0" "4118" "0" "c.4118A>G" "r.(?)" "p.(Asn1373Ser)" "" "0000969387" "00007954" "30" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Asp284Asn)" "" "0000969388" "00007954" "10" "918" "0" "918" "0" "c.918G>A" "r.(?)" "p.(=)" "" "0000969389" "00007954" "30" "1004" "0" "1004" "0" "c.1004C>G" "r.(?)" "p.(Pro335Arg)" "" "0000969390" "00007954" "10" "1197" "-5241" "1197" "-5241" "c.1197-5241C>T" "r.(=)" "p.(=)" "" "0000969391" "00007954" "10" "1197" "-5172" "1197" "-5172" "c.1197-5172G>A" "r.(=)" "p.(=)" "" "0000969392" "00007954" "10" "1214" "0" "1214" "0" "c.1214A>G" "r.(?)" "p.(Asn405Ser)" "" "0000969393" "00007954" "10" "1671" "0" "1671" "0" "c.1671G>A" "r.(?)" "p.(=)" "" "0000969394" "00007954" "10" "1857" "0" "1857" "0" "c.1857G>A" "r.(?)" "p.(=)" "" "0000969395" "00007954" "50" "2275" "0" "2275" "0" "c.2275C>G" "r.(?)" "p.(Arg759Gly)" "" "0000969396" "00007954" "50" "2282" "0" "2282" "0" "c.2282G>C" "r.(?)" "p.(Ser761Thr)" "" "0000969397" "00007954" "10" "2547" "0" "2547" "0" "c.2547A>C" "r.(?)" "p.(=)" "" "0000969398" "00007954" "10" "2553" "0" "2553" "0" "c.2553A>C" "r.(?)" "p.(=)" "" "0000969399" "00007954" "50" "2999" "0" "2999" "0" "c.2999A>C" "r.(?)" "p.(Lys1000Thr)" "" "0000969400" "00007954" "30" "3474" "0" "3474" "0" "c.3474C>T" "r.(?)" "p.(=)" "" "0000969401" "00007954" "50" "3962" "0" "3962" "0" "c.3962C>T" "r.(?)" "p.(Ala1321Val)" "" "0000969402" "00007954" "10" "4159" "0" "4159" "0" "c.4159G>A" "r.(?)" "p.(Val1387Ile)" "" "0000969403" "00007954" "10" "4260" "0" "4260" "0" "c.4260C>A" "r.(?)" "p.(=)" "" "0000983030" "00007954" "10" "607" "-20" "607" "-20" "c.607-20G>A" "r.(=)" "p.(=)" "" "0000983031" "00007954" "30" "807" "0" "807" "0" "c.807G>A" "r.(?)" "p.(=)" "" "0000983032" "00007954" "10" "963" "0" "963" "0" "c.963G>A" "r.(?)" "p.(=)" "" "0000983033" "00007954" "50" "1180" "0" "1180" "0" "c.1180C>G" "r.(?)" "p.(Arg394Gly)" "" "0000983034" "00007954" "50" "1197" "-8727" "1197" "-8727" "c.1197-8727C>T" "r.(=)" "p.(=)" "" "0000983035" "00007954" "10" "1197" "-8708" "1197" "-8708" "c.1197-8708A>G" "r.(=)" "p.(=)" "" "0000983036" "00007954" "50" "1197" "-5384" "1197" "-5384" "c.1197-5384G>C" "r.(=)" "p.(=)" "" "0000983037" "00007954" "30" "1197" "-4655" "1197" "-4655" "c.1197-4655G>A" "r.(=)" "p.(=)" "" "0000983038" "00007954" "30" "2208" "0" "2208" "0" "c.2208C>T" "r.(?)" "p.(=)" "" "0000983039" "00007954" "50" "2615" "0" "2615" "0" "c.2615C>T" "r.(?)" "p.(Pro872Leu)" "" "0000983040" "00007954" "50" "4148" "0" "4148" "0" "c.4148T>C" "r.(?)" "p.(Met1383Thr)" "" "0001004077" "00007954" "50" "61" "0" "61" "0" "c.61A>G" "r.(?)" "p.(Asn21Asp)" "" "0001004078" "00007954" "30" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Arg80Trp)" "" "0001004079" "00007954" "50" "1172" "0" "1172" "0" "c.1172A>G" "r.(?)" "p.(Asn391Ser)" "" "0001004080" "00007954" "70" "1197" "-8668" "1197" "-8668" "c.1197-8668del" "r.(=)" "p.(=)" "" "0001004081" "00007954" "10" "1197" "-5303" "1197" "-5303" "c.1197-5303C>T" "r.(=)" "p.(=)" "" "0001004082" "00007954" "30" "1197" "-5235" "1197" "-5235" "c.1197-5235C>T" "r.(=)" "p.(=)" "" "0001004083" "00007954" "50" "2354" "0" "2354" "0" "c.2354C>T" "r.(?)" "p.(Pro785Leu)" "" "0001004084" "00007954" "30" "2365" "0" "2365" "0" "c.2365G>T" "r.(?)" "p.(Val789Phe)" "" "0001004085" "00007954" "50" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "" "0001004086" "00007954" "50" "2786" "0" "2786" "0" "c.2786G>A" "r.(?)" "p.(Arg929Gln)" "" "0001004087" "00007954" "10" "3901" "-1502" "3901" "-1502" "c.3901-1502C>T" "r.(=)" "p.(=)" "" "0001015689" "00007954" "30" "606" "19" "606" "19" "c.606+19T>C" "r.(=)" "p.(=)" "" "0001015690" "00007954" "10" "663" "0" "663" "0" "c.663G>A" "r.(?)" "p.(Ser221=)" "" "0001015691" "00007954" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Pro226Ser)" "" "0001015692" "00007954" "30" "719" "-20" "719" "-20" "c.719-20G>T" "r.(=)" "p.(=)" "" "0001015693" "00007954" "50" "992" "0" "992" "0" "c.992C>G" "r.(?)" "p.(Thr331Arg)" "" "0001015694" "00007954" "50" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Val346Met)" "" "0001015695" "00007954" "10" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355Gln)" "" "0001015696" "00007954" "30" "1197" "-8726" "1197" "-8726" "c.1197-8726G>A" "r.(=)" "p.(=)" "" "0001015697" "00007954" "50" "1197" "-4674" "1197" "-4674" "c.1197-4674C>G" "r.(=)" "p.(=)" "" "0001015698" "00007954" "10" "2925" "0" "2925" "0" "c.2925C>T" "r.(?)" "p.(=)" "" "0001015699" "00007954" "30" "4238" "-18" "4238" "-18" "c.4238-18C>T" "r.(=)" "p.(=)" "" "0001027104" "00007954" "30" "345" "0" "345" "0" "c.345A>G" "r.(?)" "p.(=)" "" "0001027105" "00007954" "50" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "" "0001027106" "00007954" "30" "606" "8" "606" "8" "c.606+8del" "r.(=)" "p.(=)" "" "0001027107" "00007954" "30" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Ala225Thr)" "" "0001027108" "00007954" "50" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Ser)" "" "0001027109" "00007954" "30" "958" "-17" "958" "-17" "c.958-17G>A" "r.(=)" "p.(=)" "" "0001027110" "00007954" "30" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Pro380Leu)" "" "0001027111" "00007954" "10" "1197" "-5411" "1197" "-5411" "c.1197-5411G>A" "r.(=)" "p.(=)" "" "0001027112" "00007954" "30" "1221" "0" "1221" "0" "c.1221T>C" "r.(?)" "p.(Ser407=)" "" "0001027113" "00007954" "50" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Val427Ile)" "" "0001027114" "00007954" "10" "1446" "-5" "1446" "-5" "c.1446-5A>G" "r.spl?" "p.?" "" "0001027115" "00007954" "50" "1496" "2" "1496" "2" "c.1496+2T>C" "r.spl?" "p.?" "" "0001027116" "00007954" "50" "1576" "0" "1576" "0" "c.1576G>C" "r.(?)" "p.(Asp526His)" "" "0001027117" "00007954" "10" "1599" "0" "1599" "0" "c.1599G>A" "r.(?)" "p.(=)" "" "0001027118" "00007954" "50" "2276" "0" "2276" "0" "c.2276G>A" "r.(?)" "p.(Arg759Gln)" "" "0001027119" "00007954" "50" "2573" "0" "2573" "0" "c.2573C>T" "r.(?)" "p.(Pro858Leu)" "" "0001027120" "00007954" "50" "3137" "0" "3137" "0" "c.3137G>A" "r.(?)" "p.(Ser1046Asn)" "" "0001042415" "00007954" "30" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Ala225Thr)" "" "0001042416" "00007954" "30" "1445" "9" "1445" "9" "c.1445+9G>A" "r.(=)" "p.(=)" "" "0001042417" "00007954" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Trp)" "" "0001042418" "00007954" "30" "1770" "0" "1770" "0" "c.1770G>A" "r.(?)" "p.(=)" "" "0001042419" "00007954" "30" "3474" "0" "3474" "0" "c.3474C>T" "r.(?)" "p.(=)" "" "0001042420" "00007954" "50" "3812" "0" "3812" "0" "c.3812G>A" "r.(?)" "p.(Arg1271His)" "" "0001042421" "00007954" "50" "4026" "0" "4026" "0" "c.4026G>C" "r.(?)" "p.(Glu1342Asp)" "" "0001046695" "00007954" "30" "1289" "0" "1289" "0" "c.1289C>G" "r.(?)" "p.(Pro430Arg)" "" "0001046696" "00007954" "30" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0001046697" "00007954" "30" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463Trp)" "" "0001046698" "00007954" "50" "3051" "1" "3051" "1" "c.3051+1G>T" "r.spl?" "p.?" "" "0001046699" "00007954" "50" "3187" "0" "3187" "0" "c.3187C>T" "r.(?)" "p.(Arg1063*)" "" "0001056320" "00007954" "30" "1796" "0" "1796" "0" "c.1796A>G" "r.(?)" "p.(Gln599Arg)" "" "0001066974" "00007954" "30" "338" "-34892" "338" "-34892" "c.338-34892C>T" "r.(=)" "p.(=)" "" "0001066975" "00007954" "30" "1197" "-5402" "1197" "-5402" "c.1197-5402C>T" "r.(=)" "p.(=)" "" "0001066976" "00007954" "50" "1197" "-5370" "1197" "-5370" "c.1197-5370G>A" "r.(=)" "p.(=)" "" "0001066977" "00007954" "30" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463Trp)" "" "0001066978" "00007954" "30" "2288" "0" "2288" "0" "c.2288A>G" "r.(?)" "p.(Lys763Arg)" "" "0001066979" "00007954" "50" "2435" "0" "2435" "0" "c.2435C>T" "r.(?)" "p.(Pro812Leu)" "" "0001075801" "00026082" "50" "1913" "0" "1913" "0" "c.1913G>A" "r.(?)" "p.(Arg638Gln)" "" "0001077973" "00026082" "50" "3162" "0" "3162" "0" "c.3162G>T" "r.(?)" "p.(Leu1054Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000321479" "0000704362" "0000335942" "0000734854" "0000479810" "0001075801"