### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DMXL2) # 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}}" "DMXL2" "Dmx-like 2" "15" "q21.2" "unknown" "NC_000015.9" "UD_132118628489" "" "https://www.LOVD.nl/DMXL2" "" "1" "2938" "23312" "612186" "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" "2026-03-23 16:21:46" "00000" "2026-03-24 16:39:04" ## 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}}" "00006511" "DMXL2" "transcript variant 2" "002" "NM_015263.3" "" "NP_056078.2" "" "" "" "-225" "10371" "9111" "51914967" "51739921" "" "0000-00-00 00:00:00" "" "" "00026074" "DMXL2" "transcript variant 4 (removed from reference sequence)" "000" "NM_001378457.1" "" "NP_001365386.1" "" "" "MANE select" "-226" "10370" "9177" "1" "1" "00006" "2026-03-23 16:20:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04294" "SNHL" "hearing loss, sensorineural (SNHL)" "" "" "" "" "" "00006" "2015-06-22 12:14:54" "00006" "2015-10-23 11:42:37" "04444" "PEPNS" "polyendocrine-polyneuropathy syndrome? (PEPNS)" "AR" "616113" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" "06269" "DFNA71" "?Deafness, autosomal dominant 71" "AD" "617605" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06283" "DEE81" "encephalopathy, developmental and epileptic, type 81" "AR" "618663" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2023-09-29 19:22:48" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "DMXL2" "04444" "DMXL2" "06269" "DMXL2" "06283" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00301710" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "M" "" "" "" "0" "" "" "" "17-4220" "00436675" "" "" "" "1" "" "03177" "" "" "rM" "-" "" "" "" "" "" "" "" "00441510" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "B00APG2" "00441511" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "6586" "00441547" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "33004-4" "00472381" "" "" "" "3" "" "04951" "" "family, 3 affected" "F" "no" "China" "N/A" "0" "" "" "Chinese" "FamPatII:7/III:13/IV:6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00301710" "00198" "00436675" "05597" "00441510" "05086" "00441511" "05086" "00441547" "00000" "00472381" "04294" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04294, 04444, 05086, 05597, 06269, 06283 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000228808" "00198" "00301710" "00006" "Familial, autosomal recessive" "3y" "focal seizures at age 3 months (admitted for 2 months in PICU). Since then, he was noted to have global developmental delay, no eye contact, moderate degree of cerebral atrophy, macrocephaly and dysmorphic features (long face, high forehead, short philtrum and low set ears). Brain MRI revealed moderate degree of cerebral atrophy including atrophy of the brainstem. Parents are healthy first cousins with no similarly affected children." "" "" "" "" "" "" "" "" "" "" "" "0000330948" "05086" "00441510" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000330949" "05086" "00441511" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000357184" "04294" "00472381" "04951" "Familial, autosomal dominant" "18y" "non-syndromic\r\nprogressive\r\nsensorineural" "?" "74y, 47y, 19y" "?" "ambreen321kanwal@gmail.com" "" "" "" "" "Non-syndromic hearing loss" "hearing problems" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000302834" "00301710" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000438159" "00436675" "1" "03177" "03177" "2023-09-29 10:50:58" "" "" "SEQ-NG" "DNA" "" "" "0000442996" "00441510" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442997" "00441511" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443033" "00441547" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474050" "00472381" "1" "04951" "04951" "2026-02-07 22:03:02" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000302834" "DMXL2" ## 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 = 96 "{{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}}" "0000252246" "0" "30" "15" "51868400" "51868400" "del" "0" "02326" "DMXL2_000005" "g.51868400del" "" "" "" "DMXL2(NM_001174116.2):c.88-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51576203del" "" "likely benign" "" "0000275110" "0" "30" "15" "51750732" "51750732" "subst" "0.000480887" "01943" "DMXL2_000001" "g.51750732G>A" "" "" "" "DMXL2(NM_001174116.1):c.8106C>T (p.I2702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51458535G>A" "" "likely benign" "" "0000324113" "0" "50" "15" "51868392" "51868400" "del" "0" "01804" "DMXL2_000002" "g.51868392_51868400del" "" "" "" "DMXL2(NM_001174116.1):c.88-11_88-3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51576195_51576203del" "" "VUS" "" "0000343005" "0" "50" "15" "51829824" "51829824" "subst" "8.13385E-6" "02327" "DMXL2_000004" "g.51829824C>T" "" "" "" "DMXL2(NM_001174116.3):c.1478G>A (p.R493Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51537627C>T" "" "VUS" "" "0000344941" "0" "50" "15" "51828563" "51828563" "subst" "0" "02327" "DMXL2_000003" "g.51828563T>G" "" "" "" "DMXL2(NM_001174116.3):c.2114A>C (p.Q705P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51536366T>G" "" "VUS" "" "0000554761" "0" "30" "15" "51741314" "51741314" "subst" "0.000341164" "01943" "DMXL2_000006" "g.51741314A>G" "" "" "" "DMXL2(NM_001174116.1):c.8981T>C (p.I2994T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51449117A>G" "" "likely benign" "" "0000554762" "0" "30" "15" "51742530" "51742530" "subst" "0.000117929" "01943" "DMXL2_000007" "g.51742530G>A" "" "" "" "DMXL2(NM_001174116.1):c.8700C>T (p.H2900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51450333G>A" "" "likely benign" "" "0000554763" "0" "50" "15" "51755610" "51755610" "subst" "0" "01943" "DMXL2_000008" "g.51755610C>T" "" "" "" "DMXL2(NM_001174116.1):c.7892G>A (p.R2631K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51463413C>T" "" "VUS" "" "0000554765" "0" "50" "15" "51758481" "51758481" "subst" "5.36919E-6" "01943" "DMXL2_000010" "g.51758481C>T" "" "" "" "DMXL2(NM_001174116.1):c.7420G>A (p.V2474I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51466284C>T" "" "VUS" "" "0000554766" "0" "30" "15" "51763563" "51763563" "subst" "0" "02327" "DMXL2_000011" "g.51763563G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51471366G>A" "" "likely benign" "" "0000554768" "0" "30" "15" "51773467" "51773467" "subst" "4.47413E-5" "01943" "DMXL2_000013" "g.51773467C>T" "" "" "" "DMXL2(NM_001174116.1):c.5836G>A (p.G1946R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51481270C>T" "" "likely benign" "" "0000554769" "0" "50" "15" "51778517" "51778517" "subst" "0" "01943" "DMXL2_000014" "g.51778517C>A" "" "" "" "DMXL2(NM_001174116.1):c.5235G>T (p.M1745I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51486320C>A" "" "VUS" "" "0000554770" "0" "10" "15" "51780232" "51780232" "subst" "0.0010799" "01943" "DMXL2_000015" "g.51780232A>C" "" "" "" "DMXL2(NM_001174116.1):c.5136T>G (p.A1712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51488035A>C" "" "benign" "" "0000554771" "0" "50" "15" "51790841" "51790841" "del" "0" "01943" "DMXL2_000016" "g.51790841del" "" "" "" "DMXL2(NM_001174116.1):c.4582delC (p.R1528Vfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51498644del" "" "VUS" "" "0000554772" "0" "30" "15" "51792317" "51792317" "subst" "6.50459E-5" "01943" "DMXL2_000017" "g.51792317G>C" "" "" "" "DMXL2(NM_001174116.1):c.3104C>G (p.P1035R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51500120G>C" "" "likely benign" "" "0000554773" "0" "50" "15" "51828906" "51828906" "subst" "0" "02327" "DMXL2_000018" "g.51828906C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51536709C>A" "" "VUS" "" "0000554774" "0" "30" "15" "51868398" "51868400" "dup" "0" "01943" "DMXL2_000019" "g.51868398_51868400dup" "" "" "" "DMXL2(NM_001174116.1):c.88-5_88-3dupTTT, DMXL2(NM_001174116.3):c.88-5_88-3dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51576201_51576203dup" "" "likely benign" "" "0000615396" "0" "50" "15" "51766538" "51766538" "subst" "2.04392E-5" "01943" "DMXL2_000021" "g.51766538T>C" "" "" "" "DMXL2(NM_001174116.1):c.7213+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51474341T>C" "" "VUS" "" "0000615397" "0" "30" "15" "51773257" "51773257" "subst" "0.00176742" "01943" "DMXL2_000022" "g.51773257C>T" "" "" "" "DMXL2(NM_001174116.1):c.6046G>A (p.D2016N), DMXL2(NM_001174116.3):c.6046G>A (p.D2016N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51481060C>T" "" "likely benign" "" "0000623254" "0" "30" "15" "51791525" "51791525" "subst" "0.000305273" "01943" "DMXL2_000023" "g.51791525G>A" "" "" "" "DMXL2(NM_001174116.1):c.3896C>T (p.S1299L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51499328G>A" "" "likely benign" "" "0000623255" "0" "30" "15" "51792016" "51792016" "subst" "0" "01943" "DMXL2_000024" "g.51792016A>G" "" "" "" "DMXL2(NM_001174116.1):c.3405T>C (p.L1135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51499819A>G" "" "likely benign" "" "0000623256" "0" "30" "15" "51868399" "51868400" "del" "0" "01943" "DMXL2_000020" "g.51868399_51868400del" "" "" "" "DMXL2(NM_001174116.1):c.88-4_88-3delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51576202_51576203del" "" "likely benign" "" "0000623257" "0" "30" "15" "51914720" "51914720" "subst" "0.00429235" "01943" "DMXL2_000025" "g.51914720G>C" "" "" "" "DMXL2(NM_001174116.1):c.23C>G (p.T8S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51622523G>C" "" "likely benign" "" "0000657604" "0" "30" "15" "51766734" "51766734" "subst" "2.44018E-5" "01943" "DMXL2_000026" "g.51766734T>C" "" "" "" "DMXL2(NM_001174116.1):c.7020A>G (p.K2340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51474537T>C" "" "likely benign" "" "0000657605" "0" "50" "15" "51791337" "51791337" "subst" "0" "01804" "DMXL2_000027" "g.51791337G>A" "" "" "" "DMXL2(NM_001174116.1):c.4084C>T (p.(Arg1362*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51499140G>A" "" "VUS" "" "0000666191" "3" "70" "15" "51773050" "51773051" "ins" "0" "00006" "DMXL2_000028" "g.51773050_51773051insTAATCATG" "" "{PMID:Maddirevula 2019:30237576}" "" "NM_001174117.1:c.4349_4350insTTACATGA" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.51480853_51480854insTAATCATG" "" "likely pathogenic (recessive)" "ACMG" "0000680210" "0" "30" "15" "51742476" "51742476" "subst" "8.12209E-6" "01943" "DMXL2_000029" "g.51742476C>T" "" "" "" "DMXL2(NM_001174116.1):c.8754G>A (p.S2918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680211" "0" "30" "15" "51766731" "51766731" "subst" "0.000394428" "01943" "DMXL2_000030" "g.51766731C>T" "" "" "" "DMXL2(NM_001174116.1):c.7023G>A (p.L2341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000703885" "0" "50" "15" "51834646" "51834646" "subst" "4.06782E-6" "03779" "DMXL2_000031" "g.51834646G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs541054530" "0" "" "" "" "" "VUS" "" "0000725176" "0" "50" "15" "51772229" "51772229" "subst" "6.92538E-5" "01943" "DMXL2_000032" "g.51772229C>G" "" "" "" "DMXL2(NM_001174116.1):c.6672G>C (p.L2224F), DMXL2(NM_001378457.1):c.6672G>C (p.(Leu2224Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725177" "0" "30" "15" "51772865" "51772865" "subst" "0.000321167" "01943" "DMXL2_000033" "g.51772865C>T" "" "" "" "DMXL2(NM_001174116.1):c.6438G>A (p.S2146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725178" "0" "30" "15" "51773137" "51773137" "subst" "0.000700178" "01943" "DMXL2_000034" "g.51773137T>G" "" "" "" "DMXL2(NM_001174116.1):c.6166A>C (p.R2056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725179" "0" "30" "15" "51828890" "51828890" "subst" "0.000308993" "01943" "DMXL2_000035" "g.51828890G>C" "" "" "" "DMXL2(NM_001174116.1):c.1787C>G (p.S596C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725180" "0" "50" "15" "51829839" "51829839" "subst" "0.000435225" "01943" "DMXL2_000036" "g.51829839G>A" "" "" "" "DMXL2(NM_001174116.1):c.1463C>T (p.T488M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000797252" "0" "50" "15" "51837898" "51837898" "subst" "4.89093E-5" "03779" "DMXL2_000037" "g.51837898G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs563619175" "0" "" "" "" "" "VUS" "" "0000806756" "0" "50" "15" "51747379" "51747379" "subst" "1.62475E-5" "01804" "DMXL2_000038" "g.51747379T>A" "" "" "" "DMXL2(NM_001174116.1):c.8510A>T (p.(Asn2837Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806757" "0" "50" "15" "51750939" "51750939" "subst" "0.000130082" "01943" "DMXL2_000039" "g.51750939T>A" "" "" "" "DMXL2(NM_001174116.1):c.7980A>T (p.E2660D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806758" "0" "50" "15" "51773257" "51773257" "subst" "0.00176742" "02325" "DMXL2_000022" "g.51773257C>T" "" "" "" "DMXL2(NM_001174116.1):c.6046G>A (p.D2016N), DMXL2(NM_001174116.3):c.6046G>A (p.D2016N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806759" "0" "50" "15" "51773669" "51773669" "subst" "0" "01943" "DMXL2_000040" "g.51773669G>T" "" "" "" "DMXL2(NM_001174116.1):c.5634C>A (p.N1878K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806760" "0" "30" "15" "51791541" "51791541" "subst" "0.000337821" "01943" "DMXL2_000041" "g.51791541C>T" "" "" "" "DMXL2(NM_001174116.1):c.3880G>A (p.A1294T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806761" "0" "50" "15" "51828404" "51828404" "subst" "0" "01943" "DMXL2_000042" "g.51828404T>C" "" "" "" "DMXL2(NM_001174116.1):c.2273A>G (p.N758S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806762" "0" "30" "15" "51828684" "51828684" "subst" "8.15375E-6" "01943" "DMXL2_000043" "g.51828684A>G" "" "" "" "DMXL2(NM_001174116.1):c.1993T>C (p.L665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854078" "0" "50" "15" "51750782" "51750782" "subst" "0" "01943" "DMXL2_000044" "g.51750782G>C" "" "" "" "DMXL2(NM_001174116.1):c.8056C>G (p.Q2686E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854079" "0" "50" "15" "51791234" "51791234" "subst" "0.00158573" "01943" "DMXL2_000046" "g.51791234G>A" "" "" "" "DMXL2(NM_001174116.1):c.4187C>T (p.S1396F), DMXL2(NM_001174116.3):c.4187C>T (p.S1396F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854080" "0" "50" "15" "51799436" "51799436" "subst" "2.45574E-5" "01943" "DMXL2_000047" "g.51799436G>A" "" "" "" "DMXL2(NM_001174116.1):c.2659C>T (p.P887S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854081" "0" "10" "15" "51828636" "51828636" "subst" "0.00131214" "02326" "DMXL2_000049" "g.51828636A>C" "" "" "" "DMXL2(NM_001174116.2):c.2041T>G (p.C681G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854082" "0" "50" "15" "51837898" "51837898" "subst" "4.89093E-5" "01943" "DMXL2_000037" "g.51837898G>C" "" "" "" "DMXL2(NM_001174116.1):c.812C>G (p.T271S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854083" "0" "50" "15" "51868292" "51868292" "subst" "4.09581E-6" "01943" "DMXL2_000052" "g.51868292G>C" "" "" "" "DMXL2(NM_001174116.1):c.174C>G (p.I58M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854084" "0" "30" "15" "51868399" "51868400" "dup" "0" "02325" "DMXL2_000053" "g.51868399_51868400dup" "" "" "" "DMXL2(NM_001174116.3):c.88-4_88-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863893" "0" "30" "15" "51763537" "51763537" "subst" "4.06349E-5" "01943" "DMXL2_000045" "g.51763537G>A" "" "" "" "DMXL2(NM_001174116.1):c.7275C>T (p.L2425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863894" "0" "30" "15" "51828622" "51828622" "subst" "0.00160208" "01943" "DMXL2_000048" "g.51828622T>G" "" "" "" "DMXL2(NM_001174116.1):c.2055A>C (p.S685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863895" "0" "30" "15" "51830641" "51830641" "subst" "0.000209798" "01943" "DMXL2_000050" "g.51830641T>G" "" "" "" "DMXL2(NM_001174116.1):c.1114A>C (p.N372H), DMXL2(NM_001174116.3):c.1114A>C (p.N372H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863896" "0" "30" "15" "51855608" "51855608" "subst" "0" "01943" "DMXL2_000051" "g.51855608A>G" "" "" "" "DMXL2(NM_001174116.1):c.537T>C (p.P179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892144" "0" "50" "15" "51791234" "51791234" "subst" "0.00158573" "02325" "DMXL2_000046" "g.51791234G>A" "" "" "" "DMXL2(NM_001174116.1):c.4187C>T (p.S1396F), DMXL2(NM_001174116.3):c.4187C>T (p.S1396F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892145" "0" "50" "15" "51828563" "51828563" "subst" "0" "02325" "DMXL2_000003" "g.51828563T>G" "" "" "" "DMXL2(NM_001174116.3):c.2114A>C (p.Q705P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892146" "0" "50" "15" "51829043" "51829043" "subst" "1.30568E-5" "02325" "DMXL2_000054" "g.51829043C>T" "" "" "" "DMXL2(NM_001174116.3):c.1634G>A (p.R545Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892147" "0" "50" "15" "51829785" "51829785" "subst" "0" "02327" "DMXL2_000055" "g.51829785G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892148" "0" "50" "15" "51829824" "51829824" "subst" "8.13385E-6" "02325" "DMXL2_000004" "g.51829824C>T" "" "" "" "DMXL2(NM_001174116.3):c.1478G>A (p.R493Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892149" "0" "30" "15" "51868382" "51868400" "dup" "0" "02326" "DMXL2_000056" "g.51868382_51868400dup" "" "" "" "DMXL2(NM_001174116.2):c.88-21_88-3dupTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892150" "0" "30" "15" "51868400" "51868400" "dup" "6.5684E-6" "02325" "DMXL2_000057" "g.51868400dup" "" "" "" "DMXL2(NM_001174116.3):c.88-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914323" "0" "30" "15" "51868385" "51868400" "dup" "0" "02325" "DMXL2_000058" "g.51868385_51868400dup" "" "" "" "DMXL2(NM_001174116.3):c.88-18_88-3dupTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925994" "0" "50" "15" "51809357" "51809357" "subst" "8.94142E-5" "02325" "DMXL2_000059" "g.51809357A>G" "" "" "" "DMXL2(NM_001174116.3):c.2444T>C (p.I815T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930406" "0" "50" "15" "51799444" "51799444" "subst" "2.88884E-5" "02327" "DMXL2_000060" "g.51799444C>T" "" "" "" "DMXL2(NM_001378457.1):c.2651G>A (p.(Arg884His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930407" "0" "50" "15" "51828834" "51828834" "subst" "4.06514E-6" "02325" "DMXL2_000061" "g.51828834T>C" "" "" "" "DMXL2(NM_001174116.3):c.1843A>G (p.K615E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933708" "0" "70" "15" "51790935" "51790936" "ins" "0" "03177" "DMXL2_000062" "g.51790935_51790936insAAAGTTGTACCTAATAGAAATA" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.51498738_51498739insAAAGTTGTACCTAATAGAAATA" "" "VUS" "" "0000944356" "0" "70" "15" "51772335" "51772335" "subst" "0" "00006" "DMXL2_000064" "g.51772335T>C" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51480138T>C" "" "likely pathogenic (dominant)" "" "0000944392" "0" "90" "15" "51742363" "51742363" "subst" "0" "00006" "DMXL2_000063" "g.51742363T>C" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.51450166T>C" "" "VUS" "" "0000944455" "0" "70" "15" "51829779" "51829779" "subst" "1.22026E-5" "00006" "DMXL2_000065" "g.51829779A>G" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51537582A>G" "" "likely pathogenic (dominant)" "" "0000950391" "0" "50" "15" "51829875" "51829875" "subst" "0.000130228" "02325" "DMXL2_000066" "g.51829875G>C" "" "" "" "DMXL2(NM_001174116.3):c.1427C>G (p.T476S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950392" "0" "30" "15" "51868397" "51868400" "dup" "0" "02325" "DMXL2_000067" "g.51868397_51868400dup" "" "" "" "DMXL2(NM_001174116.3):c.88-6_88-3dupTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967851" "0" "50" "15" "51756930" "51756930" "subst" "0" "02325" "DMXL2_000068" "g.51756930C>T" "" "" "" "DMXL2(NM_001174116.3):c.7750G>A (p.A2584T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967852" "0" "50" "15" "51828462" "51828462" "subst" "0.000215528" "02325" "DMXL2_000069" "g.51828462T>C" "" "" "" "DMXL2(NM_001174116.3):c.2215A>G (p.T739A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001520" "0" "30" "15" "51773397" "51773397" "subst" "0" "01804" "DMXL2_000070" "g.51773397A>G" "" "" "" "DMXL2(NM_015263.3):c.5906T>C (p.(Val1969Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001521" "0" "50" "15" "51783863" "51783863" "subst" "0" "01804" "DMXL2_000071" "g.51783863C>G" "" "" "" "DMXL2(NM_001174116.1):c.4865G>C (p.(Arg1622Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001522" "0" "30" "15" "51828480" "51828480" "subst" "8.13035E-6" "01804" "DMXL2_000072" "g.51828480T>C" "" "" "" "DMXL2(NM_015263.3):c.2197A>G (p.(Ile733Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015212" "0" "50" "15" "51791394" "51791394" "subst" "0" "02325" "DMXL2_000073" "g.51791394T>C" "" "" "" "DMXL2(NM_001174116.3):c.4027A>G (p.T1343A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015213" "0" "30" "15" "51830641" "51830641" "subst" "0.000209798" "02325" "DMXL2_000050" "g.51830641T>G" "" "" "" "DMXL2(NM_001174116.1):c.1114A>C (p.N372H), DMXL2(NM_001174116.3):c.1114A>C (p.N372H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015214" "0" "50" "15" "51856433" "51856433" "subst" "0" "02325" "DMXL2_000074" "g.51856433T>C" "" "" "" "DMXL2(NM_001174116.3):c.389A>G (p.D130G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026463" "0" "50" "15" "51741306" "51741306" "subst" "0" "02327" "DMXL2_000075" "g.51741306C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026464" "0" "50" "15" "51773465" "51773479" "del" "0" "02325" "DMXL2_000076" "g.51773465_51773479del" "" "" "" "DMXL2(NM_001174116.3):c.5827_5841delGATGGCAATGGAAGT (p.D1943_S1947del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040431" "0" "50" "15" "51755689" "51755689" "subst" "2.87076E-5" "01804" "DMXL2_000077" "g.51755689G>A" "" "" "" "DMXL2(NM_001378457.1):c.7813C>T (p.(Arg2605Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040432" "0" "50" "15" "51758417" "51758417" "subst" "0" "01804" "DMXL2_000078" "g.51758417G>C" "" "" "" "DMXL2(NM_001378457.1):c.7484C>G (p.(Thr2495Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040433" "0" "50" "15" "51772229" "51772229" "subst" "6.92538E-5" "01804" "DMXL2_000032" "g.51772229C>G" "" "" "" "DMXL2(NM_001174116.1):c.6672G>C (p.L2224F), DMXL2(NM_001378457.1):c.6672G>C (p.(Leu2224Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040434" "0" "50" "15" "51799444" "51799444" "subst" "2.88884E-5" "01804" "DMXL2_000060" "g.51799444C>T" "" "" "" "DMXL2(NM_001378457.1):c.2651G>A (p.(Arg884His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040435" "0" "90" "15" "51827919" "51827932" "del" "0" "02325" "DMXL2_000079" "g.51827919_51827932del" "" "" "" "DMXL2(NM_001174116.3):c.2365_2378delAATCTGAGACTCTA (p.N789Sfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040436" "0" "30" "15" "51828357" "51828357" "subst" "0.000146197" "02325" "DMXL2_000080" "g.51828357A>C" "" "" "" "DMXL2(NM_001174116.3):c.2314+6T>G, DMXL2(NM_001378457.1):c.2314+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040437" "0" "50" "15" "51868396" "51868400" "dup" "0" "01804" "DMXL2_000081" "g.51868396_51868400dup" "" "" "" "DMXL2(NM_001378457.1):c.88-7_88-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040438" "0" "10" "15" "51868398" "51868400" "dup" "0" "02325" "DMXL2_000019" "g.51868398_51868400dup" "" "" "" "DMXL2(NM_001174116.1):c.88-5_88-3dupTTT, DMXL2(NM_001174116.3):c.88-5_88-3dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046497" "0" "30" "15" "51868398" "51868400" "del" "0" "02325" "DMXL2_000082" "g.51868398_51868400del" "" "" "" "DMXL2(NM_001174116.3):c.88-5_88-3delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055130" "0" "50" "15" "51828357" "51828357" "subst" "0.000146197" "01804" "DMXL2_000080" "g.51828357A>C" "" "" "" "DMXL2(NM_001174116.3):c.2314+6T>G, DMXL2(NM_001378457.1):c.2314+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055131" "0" "50" "15" "51828929" "51828929" "subst" "8.13458E-6" "01804" "DMXL2_000083" "g.51828929C>A" "" "" "" "DMXL2(NM_001378457.1):c.1748G>T (p.(Gly583Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055132" "0" "50" "15" "51830521" "51830521" "subst" "0" "01804" "DMXL2_000084" "g.51830521G>C" "" "" "" "DMXL2(NM_001378457.1):c.1234C>G (p.(Arg412Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066220" "0" "50" "15" "51763452" "51763452" "subst" "0.000125988" "02325" "DMXL2_000085" "g.51763452C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066221" "0" "50" "15" "51791978" "51791978" "subst" "4.07422E-6" "01804" "DMXL2_000086" "g.51791978T>C" "" "" "" "DMXL2(NM_001378457.1):c.3443A>G (p.(Tyr1148Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001070731" "20" "50" "15" "51757826" "51757826" "subst" "0.000306122" "04951" "DMXL2_000087" "g.51757826T>C" "" "" "" "NM_001378457.1:c.7543A>G" "" "Germline" "no" "" "0" "" "" "g.51465629T>C" "" "VUS" "ACMG" "0001071219" "0" "30" "15" "51809289" "51809289" "subst" "6.0934E-5" "03779" "chr15_006475" "g.51809289C>T" "" "" "" "" "" "Unknown" "" "rs199866251" "0" "" "" "" "" "likely benign" "" ## 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 DMXL2 ## Count = 96 "{{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}}" "0000252246" "00006511" "30" "88" "-3" "88" "-3" "c.88-3del" "r.spl?" "p.?" "" "0000275110" "00006511" "30" "8103" "0" "8103" "0" "c.8103C>T" "r.(?)" "p.(Ile2701=)" "" "0000324113" "00006511" "50" "88" "-11" "88" "-3" "c.88-11_88-3del" "r.spl?" "p.?" "" "0000343005" "00006511" "50" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493Gln)" "" "0000344941" "00006511" "50" "2114" "0" "2114" "0" "c.2114A>C" "r.(?)" "p.(Gln705Pro)" "" "0000554761" "00006511" "30" "8978" "0" "8978" "0" "c.8978T>C" "r.(?)" "p.(Ile2993Thr)" "" "0000554762" "00006511" "30" "8697" "0" "8697" "0" "c.8697C>T" "r.(?)" "p.(His2899=)" "" "0000554763" "00006511" "50" "7889" "0" "7889" "0" "c.7889G>A" "r.(?)" "p.(Arg2630Lys)" "" "0000554765" "00006511" "50" "7417" "0" "7417" "0" "c.7417G>A" "r.(?)" "p.(Val2473Ile)" "" "0000554766" "00006511" "30" "7246" "0" "7246" "0" "c.7246C>T" "r.(?)" "p.(Arg2416Cys)" "" "0000554768" "00006511" "30" "5836" "0" "5836" "0" "c.5836G>A" "r.(?)" "p.(Gly1946Arg)" "" "0000554769" "00006511" "50" "5235" "0" "5235" "0" "c.5235G>T" "r.(?)" "p.(Met1745Ile)" "" "0000554770" "00006511" "10" "5136" "0" "5136" "0" "c.5136T>G" "r.(?)" "p.(Ala1712=)" "" "0000554771" "00006511" "50" "4582" "0" "4582" "0" "c.4582del" "r.(?)" "p.(Arg1528ValfsTer8)" "" "0000554772" "00006511" "30" "3104" "0" "3104" "0" "c.3104C>G" "r.(?)" "p.(Pro1035Arg)" "" "0000554773" "00006511" "50" "1771" "0" "1771" "0" "c.1771G>T" "r.(?)" "p.(Gly591Ter)" "" "0000554774" "00006511" "30" "88" "-5" "88" "-3" "c.88-5_88-3dup" "r.spl?" "p.?" "" "0000615396" "00006511" "50" "7210" "3" "7210" "3" "c.7210+3A>G" "r.spl?" "p.?" "" "0000615397" "00006511" "30" "6046" "0" "6046" "0" "c.6046G>A" "r.(?)" "p.(Asp2016Asn)" "" "0000623254" "00006511" "30" "3896" "0" "3896" "0" "c.3896C>T" "r.(?)" "p.(Ser1299Leu)" "" "0000623255" "00006511" "30" "3405" "0" "3405" "0" "c.3405T>C" "r.(?)" "p.(Leu1135=)" "" "0000623256" "00006511" "30" "88" "-4" "88" "-3" "c.88-4_88-3del" "r.spl?" "p.?" "" "0000623257" "00006511" "30" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Thr8Ser)" "" "0000657604" "00006511" "30" "7017" "0" "7017" "0" "c.7017A>G" "r.(?)" "p.(Lys2339=)" "" "0000657605" "00006511" "50" "4084" "0" "4084" "0" "c.4084C>T" "r.(?)" "p.(Arg1362Ter)" "" "0000666191" "00006511" "70" "6257" "0" "6258" "0" "c.6257_6258insTTACATGA" "r.(?)" "p.(Glu2086Aspfs*23)" "" "0000680210" "00006511" "30" "8751" "0" "8751" "0" "c.8751G>A" "r.(?)" "p.(Ser2917=)" "" "0000680211" "00006511" "30" "7020" "0" "7020" "0" "c.7020G>A" "r.(?)" "p.(Leu2340=)" "" "0000703885" "00006511" "50" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Thr330Ile)" "" "0000725176" "00006511" "50" "6672" "0" "6672" "0" "c.6672G>C" "r.(?)" "p.(Leu2224Phe)" "" "0000725177" "00006511" "30" "6438" "0" "6438" "0" "c.6438G>A" "r.(?)" "p.(Ser2146=)" "" "0000725178" "00006511" "30" "6166" "0" "6166" "0" "c.6166A>C" "r.(?)" "p.(Arg2056=)" "" "0000725179" "00006511" "30" "1787" "0" "1787" "0" "c.1787C>G" "r.(?)" "p.(Ser596Cys)" "" "0000725180" "00006511" "50" "1463" "0" "1463" "0" "c.1463C>T" "r.(?)" "p.(Thr488Met)" "" "0000797252" "00006511" "50" "812" "0" "812" "0" "c.812C>G" "r.(?)" "p.(Thr271Ser)" "" "0000806756" "00006511" "50" "8507" "0" "8507" "0" "c.8507A>T" "r.(?)" "p.(Asn2836Ile)" "" "0000806757" "00006511" "50" "7977" "0" "7977" "0" "c.7977A>T" "r.(?)" "p.(Glu2659Asp)" "" "0000806758" "00006511" "50" "6046" "0" "6046" "0" "c.6046G>A" "r.(?)" "p.(Asp2016Asn)" "" "0000806759" "00006511" "50" "5634" "0" "5634" "0" "c.5634C>A" "r.(?)" "p.(Asn1878Lys)" "" "0000806760" "00006511" "30" "3880" "0" "3880" "0" "c.3880G>A" "r.(?)" "p.(Ala1294Thr)" "" "0000806761" "00006511" "50" "2273" "0" "2273" "0" "c.2273A>G" "r.(?)" "p.(Asn758Ser)" "" "0000806762" "00006511" "30" "1993" "0" "1993" "0" "c.1993T>C" "r.(?)" "p.(Leu665=)" "" "0000854078" "00006511" "50" "8053" "0" "8053" "0" "c.8053C>G" "r.(?)" "p.(Gln2685Glu)" "" "0000854079" "00006511" "50" "4187" "0" "4187" "0" "c.4187C>T" "r.(?)" "p.(Ser1396Phe)" "" "0000854080" "00006511" "50" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Pro887Ser)" "" "0000854081" "00006511" "10" "2041" "0" "2041" "0" "c.2041T>G" "r.(?)" "p.(Cys681Gly)" "" "0000854082" "00006511" "50" "812" "0" "812" "0" "c.812C>G" "r.(?)" "p.(Thr271Ser)" "" "0000854083" "00006511" "50" "174" "0" "174" "0" "c.174C>G" "r.(?)" "p.(Ile58Met)" "" "0000854084" "00006511" "30" "88" "-4" "88" "-3" "c.88-4_88-3dup" "r.spl?" "p.?" "" "0000863893" "00006511" "30" "7272" "0" "7272" "0" "c.7272C>T" "r.(?)" "p.(Leu2424=)" "" "0000863894" "00006511" "30" "2055" "0" "2055" "0" "c.2055A>C" "r.(?)" "p.(Ser685=)" "" "0000863895" "00006511" "30" "1114" "0" "1114" "0" "c.1114A>C" "r.(?)" "p.(Asn372His)" "" "0000863896" "00006511" "30" "537" "0" "537" "0" "c.537T>C" "r.(?)" "p.(Pro179=)" "" "0000892144" "00006511" "50" "4187" "0" "4187" "0" "c.4187C>T" "r.(?)" "p.(Ser1396Phe)" "" "0000892145" "00006511" "50" "2114" "0" "2114" "0" "c.2114A>C" "r.(?)" "p.(Gln705Pro)" "" "0000892146" "00006511" "50" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545Gln)" "" "0000892147" "00006511" "50" "1517" "0" "1517" "0" "c.1517C>T" "r.(?)" "p.(Pro506Leu)" "" "0000892148" "00006511" "50" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493Gln)" "" "0000892149" "00006511" "30" "88" "-21" "88" "-3" "c.88-21_88-3dup" "r.spl?" "p.?" "" "0000892150" "00006511" "30" "88" "-3" "88" "-3" "c.88-3dup" "r.spl?" "p.?" "" "0000914323" "00006511" "30" "88" "-18" "88" "-3" "c.88-18_88-3dup" "r.spl?" "p.?" "" "0000925994" "00006511" "50" "2444" "0" "2444" "0" "c.2444T>C" "r.(?)" "p.(Ile815Thr)" "" "0000930406" "00006511" "50" "2651" "0" "2651" "0" "c.2651G>A" "r.(?)" "p.(Arg884His)" "" "0000930407" "00006511" "50" "1843" "0" "1843" "0" "c.1843A>G" "r.(?)" "p.(Lys615Glu)" "" "0000933708" "00006511" "70" "4485" "0" "4486" "0" "c.4485_4486insTATTTCTATTAGGTACAACTTT" "r.(?)" "p.(Ile1496Tyrfs*4)" "" "0000944356" "00006511" "70" "6566" "0" "6566" "0" "c.6566A>G" "r.(?)" "p.(Glu2189Gly)" "" "0000944392" "00006511" "90" "8864" "0" "8864" "0" "c.8864A>G" "r.(?)" "p.(Glu2955Gly)" "" "0000944455" "00006511" "70" "1523" "0" "1523" "0" "c.1523T>C" "r.(?)" "p.(Met508Thr)" "" "0000950391" "00006511" "50" "1427" "0" "1427" "0" "c.1427C>G" "r.(?)" "p.(Thr476Ser)" "" "0000950392" "00006511" "30" "88" "-6" "88" "-3" "c.88-6_88-3dup" "r.spl?" "p.?" "" "0000967851" "00006511" "50" "7747" "0" "7747" "0" "c.7747G>A" "r.(?)" "p.(Ala2583Thr)" "" "0000967852" "00006511" "50" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Thr739Ala)" "" "0001001520" "00006511" "30" "5906" "0" "5906" "0" "c.5906T>C" "r.(?)" "p.(Val1969Ala)" "" "0001001521" "00006511" "50" "4865" "0" "4865" "0" "c.4865G>C" "r.(?)" "p.(Arg1622Thr)" "" "0001001522" "00006511" "30" "2197" "0" "2197" "0" "c.2197A>G" "r.(?)" "p.(Ile733Val)" "" "0001015212" "00006511" "50" "4027" "0" "4027" "0" "c.4027A>G" "r.(?)" "p.(Thr1343Ala)" "" "0001015213" "00006511" "30" "1114" "0" "1114" "0" "c.1114A>C" "r.(?)" "p.(Asn372His)" "" "0001015214" "00006511" "50" "389" "0" "389" "0" "c.389A>G" "r.(?)" "p.(Asp130Gly)" "" "0001026463" "00006511" "50" "8986" "0" "8986" "0" "c.8986G>A" "r.(?)" "p.(Gly2996Arg)" "" "0001026464" "00006511" "50" "5827" "0" "5841" "0" "c.5827_5841del" "r.(?)" "p.(Asp1943_Ser1947del)" "" "0001040431" "00006511" "50" "7810" "0" "7810" "0" "c.7810C>T" "r.(?)" "p.(Arg2604Trp)" "" "0001040432" "00006511" "50" "7481" "0" "7481" "0" "c.7481C>G" "r.(?)" "p.(Thr2494Arg)" "" "0001040433" "00006511" "50" "6672" "0" "6672" "0" "c.6672G>C" "r.(?)" "p.(Leu2224Phe)" "" "0001040434" "00006511" "50" "2651" "0" "2651" "0" "c.2651G>A" "r.(?)" "p.(Arg884His)" "" "0001040435" "00006511" "90" "2365" "0" "2378" "0" "c.2365_2378del" "r.(?)" "p.(Asn789Serfs*12)" "" "0001040436" "00006511" "30" "2314" "6" "2314" "6" "c.2314+6T>G" "r.(=)" "p.(=)" "" "0001040437" "00006511" "50" "88" "-7" "88" "-3" "c.88-7_88-3dup" "r.spl?" "p.?" "" "0001040438" "00006511" "10" "88" "-5" "88" "-3" "c.88-5_88-3dup" "r.spl?" "p.?" "" "0001046497" "00006511" "30" "88" "-5" "88" "-3" "c.88-5_88-3del" "r.spl?" "p.?" "" "0001055130" "00006511" "50" "2314" "6" "2314" "6" "c.2314+6T>G" "r.(=)" "p.(=)" "" "0001055131" "00006511" "50" "1748" "0" "1748" "0" "c.1748G>T" "r.(?)" "p.(Gly583Val)" "" "0001055132" "00006511" "50" "1234" "0" "1234" "0" "c.1234C>G" "r.(?)" "p.(Arg412Gly)" "" "0001066220" "00006511" "50" "7357" "0" "7357" "0" "c.7357G>A" "r.(?)" "p.(Glu2453Lys)" "" "0001066221" "00006511" "50" "3443" "0" "3443" "0" "c.3443A>G" "r.(?)" "p.(Tyr1148Cys)" "" "0001070731" "00006511" "50" "7540" "0" "7540" "0" "c.7540A>G" "r.(?)" "p.(Met2514Val)" "" "0001071219" "00026074" "30" "2512" "0" "2512" "0" "c.2512G>A" "r.(?)" "p.(Ala838Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000302834" "0000666191" "0000438159" "0000933708" "0000442996" "0000944455" "0000442997" "0000944356" "0000443033" "0000944392" "0000474050" "0001070731"