### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANO10) # 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}}" "ANO10" "anoctamin 10" "3" "p22.1-p21.33" "unknown" "NG_028216.2" "UD_132118655824" "" "https://www.LOVD.nl/ANO10" "" "1" "25519" "55129" "613726" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ANO10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-26 19:28:35" "00006" "2026-03-06 17:26:39" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002589" "ANO10" "transcript variant 1" "005" "NM_018075.3" "" "NP_060545.3" "" "" "" "-171" "2563" "1983" "43663560" "43407818" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "03408" "SCAR10" "ataxia, spinocerebellar, autosomal recessive, type 10 (SCAR-10)" "AR" "613728" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "07233" "paraplegia" "paraplegia" "" "" "" "" "" "00006" "2026-03-03 14:58:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ANO10" "03408" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00151384" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00293390" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00373294" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "174509" "00374656" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-424" "00397579" "" "" "" "2" "" "00435" "" "2-generation family, 2 affected sisters, unaffected parents" "F" "yes" "Egypt" "" "0" "" "" "Egypt" "FamPat1" "00398060" "" "" "" "1" "" "00435" "" "" "F" "" "Egypt" "" "0" "" "" "Egyptian" "" "00403760" "" "" "00397579" "1" "" "00435" "" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "FamPat2" "00408671" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "yes" "France" "" "0" "" "" "" "Pat14" "00408675" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat30" "00427970" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A006" "00440452" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3167.1" "00460907" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00473153" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam103148Pat299" "00473915" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9900502Pat1434" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00151384" "00198" "00293390" "00198" "00373294" "03408" "00374656" "00198" "00397579" "05356" "00398060" "05356" "00403760" "05356" "00408671" "00198" "00408675" "00198" "00427970" "00198" "00440452" "00198" "00460907" "00198" "00473153" "07233" "00473915" "05356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03408, 05356, 07233 ## Count = 12 "{{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}}" "0000123778" "00198" "00151384" "01807" "Unknown" "" "Ataxia (HP:0001251); Progressive gait ataxia (HP:0007240); Dysarthria (HP:0001260)" "" "" "" "" "" "" "" "" "" "" "" "0000268570" "03408" "00373294" "01164" "Familial, autosomal recessive" "" "Gait ataxia; Limb ataxia" "" "" "" "" "" "" "" "" "36y" "" "" "0000269866" "00198" "00374656" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000290703" "05356" "00397579" "00435" "Familial, autosomal recessive" "38y" "normal pregnancy and delivery; normal developmental milestones; walks with mild support; 34y-insidious illness, progressive limb incoordination, abnormal gait; 35y-dysarthria, staccato speech; no peripheral nerve affection, no sensory system affection, no sphincteric disturbance, no cognitive deterioration, no cranial nerve involvement; limb ataxia, wide base staggering gait, normal sensation, flexor planter response, normal tendon jerks, normal superficial reflexes" "34y" "" "Ataxia" "" "" "" "" "" "SCAR10" "cerebellar ataxia" "" "0000291170" "05356" "00398060" "00435" "Familial, autosomal recessive" "26y" "Developmental history:\r\nThe patient is a product of normal pregnancy and delivery\r\n\r\nSocial history:\r\n6th in birth order and he has 2 sisters and 4 brothers.\r\n\r\nFamily history:\r\no\tHistory of consanguineous marriage (3rd degree, parents are cousins)\r\no\tThere is history of affection of her older brother (age 37 years old). He had similar condition with progressive incoordination in form of unsteadiness of gait, intension tremors, and staccato speech. He now walks with moderate support\r\n\t\r\nHistory of present illness:\r\nAt the age of 19 years, the patient developed an insidious illness, in the form of gait disturbance (ataxia). At age of 20 years he developed dysarthria (staccato speech). At age of 24, she developed intension tremors in both hands. No history of weakness of upper or lower limbs. No sphincteric disturbance. No cognitive deterioration. No cranial nerve involvement. No history of DM. The patient still walks without support.\r\nNeurological examination of the patient (HFA0017-a):\r\nStaccato speech\r\nNormal fundus examination\r\nNo nystagmus\r\nWide base gait\r\nWasting of small muscle of hand.\r\nHypotonia around ankle.\r\nMuscle power: grade 5.\r\nPositive tests of incoordination in both upper and lower limbs.\r\nPositive Rhomorgism.\r\nPreserved deep reflexes in both upper and lower limbs.\r\nIntact abdominal reflexes\r\nEquivocal planter response\r\nIntact superficial sensation.\r\nLost sense of vibration\r\n\r\nInvestigations:\r\nNCS of both UL and LL: axonal neuropathy of LL." "19y" "" "Ataxia" "" "" "" "" "" "Autosomal recessive cerebellar ataxia type 3 (ARCA3)" "Autosomal recessive cerebellar ataxia" "" "0000296459" "05356" "00403760" "00435" "Familial, autosomal recessive" "" "similar phenotype as sister" "30y" "" "" "" "" "" "" "" "SCAR10" "cerebellar ataxia" "" "0000300789" "00198" "00408671" "00006" "Familial, autosomal recessive" "" "" "24y" "" "" "" "" "" "" "" "SCA10" "cerebellar ataxia" "" "0000300793" "00198" "00408675" "00006" "Familial, autosomal recessive" "" "" "29y" "" "" "" "" "" "" "" "SCA10" "cerebellar ataxia" "" "0000318916" "00198" "00427970" "00006" "Familial, autosomal recessive" "48y" "" "" "" "" "" "" "" "" "" "Spinocerebellar ataxia, autosomal recessive 10" "" "" "0000330362" "00198" "00440452" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Autosomal recessive spinocerebellar ataxia-10 (MIM #613728)" "" "" "0000357948" "07233" "00473153" "00006" "Unknown" "32y" "onset 25y, consanguineous parents ,spastic gait, upper and lower muscle weakness, mild lower muscle atrophy, mild pes cavus, normal EMG/NCV with mild neurogenic process, normal CPK, normal cervical, thoracic MRI" "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358710" "05356" "00473915" "00006" "Familial, autosomal recessive" "37y" "onset 18y with ataxic gait; Difficulty climbing steps and writing; Dysarthria; Ataxia." "" "" "" "" "" "" "" "" "" "hereditary ataxia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000152239" "00151384" "0" "01807" "01807" "2018-01-15 20:24:05" "" "" "SEQ" "DNA" "" "" "0000294558" "00293390" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000374528" "00373294" "1" "01164" "01164" "2021-05-12 11:44:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000375850" "00374656" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000398818" "00397579" "1" "00435" "00435" "2021-12-24 20:08:48" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000399303" "00398060" "1" "00435" "00435" "2021-12-30 20:59:29" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000404999" "00403760" "1" "00435" "00006" "2022-02-21 17:43:40" "" "" "SEQ" "DNA" "" "" "0000409933" "00408671" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "" "0000409937" "00408675" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "clincal WES" "0000429383" "00427970" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000441937" "00440452" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462539" "00460907" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000474822" "00473153" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475584" "00473915" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000374528" "ANO10" "0000375850" "ANO10" "0000398818" "ANO10" "0000399303" "ANO10" "0000404999" "ANO10" "0000462539" "ANO10" ## 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 = 79 "{{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}}" "0000245372" "0" "90" "3" "43647221" "43647221" "dup" "0" "01807" "ANO10_000026" "g.43647221dup" "" "" "" "132dupA" "" "Unknown" "" "" "0" "" "" "g.43605729dup" "" "pathogenic" "" "0000245373" "0" "70" "3" "43596772" "43596772" "subst" "0" "01807" "ANO10_000007" "g.43596772G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.43555280G>A" "" "likely pathogenic" "" "0000249363" "0" "30" "3" "43602714" "43602714" "subst" "8.52923E-5" "02325" "ANO10_000008" "g.43602714A>G" "" "" "" "ANO10(NM_001204831.3):c.1474T>C (p.L492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43561222A>G" "" "likely benign" "" "0000255218" "0" "30" "3" "43474086" "43474086" "subst" "0" "01943" "ANO10_000002" "g.43474086A>T" "" "" "" "ANO10(NM_018075.4):c.1914+17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43432594A>T" "" "likely benign" "" "0000255219" "0" "30" "3" "43607242" "43607242" "del" "0" "01943" "ANO10_000016" "g.43607242del" "" "" "" "ANO10(NM_001204831.2):c.1219-6delT, ANO10(NM_001204831.3):c.1219-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43565750del" "" "likely benign" "" "0000256338" "0" "50" "3" "43641977" "43641977" "subst" "0.00012996" "01943" "ANO10_000025" "g.43641977A>C" "" "" "" "ANO10(NM_001204831.2):c.236T>G (p.M79R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600485A>C" "" "VUS" "" "0000256700" "0" "50" "3" "43414218" "43414218" "subst" "5.72978E-5" "01943" "ANO10_000001" "g.43414218A>G" "" "" "" "ANO10(NM_001204831.2):c.*33+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43372726A>G" "" "VUS" "" "0000258864" "0" "10" "3" "43732496" "43732496" "subst" "0.0324183" "02325" "ABHD5_000001" "g.43732496G>A" "" "" "" "ABHD5(NM_016006.6):c.12G>A (p.E4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43691004G>A" "" "benign" "" "0000259090" "0" "10" "3" "43618280" "43618280" "subst" "0.0491325" "02325" "ANO10_000017" "g.43618280T>C" "" "" "" "ANO10(NM_001204831.3):c.1066A>G (p.S356G), ANO10(NM_018075.4):c.1066A>G (p.S356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43576788T>C" "" "benign" "" "0000259091" "0" "10" "3" "43607136" "43607136" "subst" "0.656587" "02325" "ANO10_000011" "g.43607136T>C" "" "" "" "ANO10(NM_001204831.3):c.1293+9A>G, ANO10(NM_018075.4):c.1293+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43565644T>C" "" "benign" "" "0000259092" "0" "10" "3" "43602803" "43602803" "subst" "0.657272" "02325" "ANO10_000009" "g.43602803C>T" "" "" "" "ANO10(NM_001204831.3):c.1385G>A (p.R462Q), ANO10(NM_018075.4):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43561311C>T" "" "benign" "" "0000259093" "0" "10" "3" "43591327" "43591327" "subst" "0.0476161" "02325" "ANO10_000006" "g.43591327G>A" "" "" "" "ANO10(NM_001204831.3):c.1682C>T (p.T561M), ANO10(NM_018075.4):c.1682C>T (p.T561M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43549835G>A" "" "benign" "" "0000259488" "0" "30" "3" "43618366" "43618366" "subst" "0.00324707" "02325" "ANO10_000018" "g.43618366T>C" "" "" "" "ANO10(NM_001204831.2):c.980A>G (p.Y327C), ANO10(NM_001204831.3):c.980A>G (p.Y327C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43576874T>C" "" "likely benign" "" "0000262520" "0" "10" "3" "43618280" "43618280" "subst" "0.0491325" "01943" "ANO10_000017" "g.43618280T>C" "" "" "" "ANO10(NM_001204831.3):c.1066A>G (p.S356G), ANO10(NM_018075.4):c.1066A>G (p.S356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43576788T>C" "" "benign" "" "0000262521" "0" "30" "3" "43607224" "43607224" "subst" "0" "01943" "ANO10_000015" "g.43607224C>A" "" "" "" "ANO10(NM_001204831.2):c.1219-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43565732C>A" "" "likely benign" "" "0000262524" "0" "50" "3" "43607156" "43607156" "subst" "0" "01943" "ANO10_000012" "g.43607156G>C" "" "" "" "ANO10(NM_001204831.2):c.1282C>G (p.L428V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43565664G>C" "" "VUS" "" "0000262525" "0" "10" "3" "43607119" "43607119" "subst" "0.0301372" "01943" "ANO10_000010" "g.43607119G>A" "" "" "" "ANO10(NM_018075.4):c.1293+26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43565627G>A" "" "benign" "" "0000262526" "0" "10" "3" "43607136" "43607136" "subst" "0.656587" "01943" "ANO10_000011" "g.43607136T>C" "" "" "" "ANO10(NM_001204831.3):c.1293+9A>G, ANO10(NM_018075.4):c.1293+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43565644T>C" "" "benign" "" "0000262527" "0" "10" "3" "43602803" "43602803" "subst" "0.657272" "01943" "ANO10_000009" "g.43602803C>T" "" "" "" "ANO10(NM_001204831.3):c.1385G>A (p.R462Q), ANO10(NM_018075.4):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43561311C>T" "" "benign" "" "0000262528" "0" "10" "3" "43591327" "43591327" "subst" "0.0476161" "01943" "ANO10_000006" "g.43591327G>A" "" "" "" "ANO10(NM_001204831.3):c.1682C>T (p.T561M), ANO10(NM_018075.4):c.1682C>T (p.T561M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43549835G>A" "" "benign" "" "0000262529" "0" "30" "3" "43591326" "43591326" "subst" "0.0033987" "01943" "ANO10_000005" "g.43591326C>G" "" "" "" "ANO10(NM_018075.4):c.1683G>C (p.T561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43549834C>G" "" "likely benign" "" "0000262530" "0" "70" "3" "43474174" "43474174" "subst" "0.000407249" "01943" "ANO10_000004" "g.43474174C>T" "" "" "" "ANO10(NM_018075.4):c.1843G>A (p.D615N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43432682C>T" "" "likely pathogenic" "" "0000262531" "0" "50" "3" "43474141" "43474141" "subst" "0" "01943" "ANO10_000003" "g.43474141T>C" "" "" "" "ANO10(NM_018075.4):c.1876A>G (p.R626G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43432649T>C" "" "VUS" "" "0000262532" "0" "30" "3" "43621970" "43621970" "subst" "0.000155001" "01943" "ANO10_000024" "g.43621970C>T" "" "" "" "ANO10(NM_001204831.2):c.473-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43580478C>T" "" "likely benign" "" "0000262533" "0" "10" "3" "43621951" "43621951" "subst" "0.00570847" "01943" "ANO10_000023" "g.43621951G>A" "" "" "" "ANO10(NM_018075.4):c.486C>T (p.L162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43580459G>A" "" "benign" "" "0000262534" "0" "10" "3" "43618558" "43618558" "subst" "0.0179312" "01943" "ANO10_000022" "g.43618558C>T" "" "" "" "ANO10(NM_018075.4):c.788G>A (p.R263H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43577066C>T" "" "benign" "" "0000262535" "0" "30" "3" "43618556" "43618556" "subst" "3.65788E-5" "01943" "ANO10_000021" "g.43618556C>T" "" "" "" "ANO10(NM_001204831.2):c.790G>A (p.G264S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43577064C>T" "" "likely benign" "" "0000262536" "0" "30" "3" "43618422" "43618422" "subst" "8.12935E-6" "01943" "ANO10_000020" "g.43618422G>A" "" "" "" "ANO10(NM_001204831.2):c.924C>T (p.Y308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43576930G>A" "" "likely benign" "" "0000262537" "0" "50" "3" "43618382" "43618382" "subst" "3.25174E-5" "01943" "ANO10_000019" "g.43618382C>T" "" "" "" "ANO10(NM_001204831.2):c.964G>A (p.V322M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43576890C>T" "" "VUS" "" "0000262538" "0" "30" "3" "43618366" "43618366" "subst" "0.00324707" "01943" "ANO10_000018" "g.43618366T>C" "" "" "" "ANO10(NM_001204831.2):c.980A>G (p.Y327C), ANO10(NM_001204831.3):c.980A>G (p.Y327C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43576874T>C" "" "likely benign" "" "0000338090" "0" "30" "3" "43408113" "43408113" "subst" "0" "02327" "ANO10_000027" "g.43408113G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43366621G>A" "" "likely benign" "" "0000338095" "0" "10" "3" "43607136" "43607136" "subst" "0.656587" "02327" "ANO10_000011" "g.43607136T>C" "" "" "" "ANO10(NM_001204831.3):c.1293+9A>G, ANO10(NM_018075.4):c.1293+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43565644T>C" "" "benign" "" "0000338098" "0" "30" "3" "43663472" "43663472" "subst" "0" "02327" "ANO10_000036" "g.43663472A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43621980A>G" "" "likely benign" "" "0000342460" "0" "30" "3" "43618558" "43618558" "subst" "0.0179312" "02327" "ANO10_000022" "g.43618558C>T" "" "" "" "ANO10(NM_018075.4):c.788G>A (p.R263H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43577066C>T" "" "likely benign" "" "0000342946" "0" "10" "3" "43602803" "43602803" "subst" "0.657272" "02327" "ANO10_000009" "g.43602803C>T" "" "" "" "ANO10(NM_001204831.3):c.1385G>A (p.R462Q), ANO10(NM_018075.4):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43561311C>T" "" "benign" "" "0000344841" "0" "90" "3" "43607147" "43607147" "subst" "0" "02327" "ANO10_000029" "g.43607147G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43565655G>A" "" "pathogenic" "" "0000345890" "0" "50" "3" "43618661" "43618661" "subst" "0" "02327" "ANO10_000032" "g.43618661C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43577169C>A" "" "VUS" "" "0000347606" "0" "50" "3" "43474199" "43474199" "subst" "0" "02327" "ANO10_000028" "g.43474199C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43432707C>G" "" "VUS" "" "0000348028" "0" "50" "3" "43618337" "43618337" "subst" "4.06418E-6" "02327" "ANO10_000031" "g.43618337A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43576845A>C" "" "VUS" "" "0000348960" "0" "10" "3" "43618280" "43618280" "subst" "0.0491325" "02327" "ANO10_000017" "g.43618280T>C" "" "" "" "ANO10(NM_001204831.3):c.1066A>G (p.S356G), ANO10(NM_018075.4):c.1066A>G (p.S356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43576788T>C" "" "benign" "" "0000349161" "0" "50" "3" "43641990" "43641990" "subst" "6.90411E-5" "02327" "ANO10_000034" "g.43641990A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600498A>T" "" "VUS" "" "0000349565" "0" "10" "3" "43591327" "43591327" "subst" "0.0476161" "02327" "ANO10_000006" "g.43591327G>A" "" "" "" "ANO10(NM_001204831.3):c.1682C>T (p.T561M), ANO10(NM_018075.4):c.1682C>T (p.T561M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43549835G>A" "" "benign" "" "0000350496" "0" "50" "3" "43618325" "43618325" "subst" "4.06431E-6" "02327" "ANO10_000030" "g.43618325C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43576833C>G" "" "VUS" "" "0000519839" "0" "70" "3" "43474153" "43474153" "subst" "0.000183241" "01943" "ABHD5_000005" "g.43474153T>C" "" "" "" "ANO10(NM_018075.4):c.1864A>G (p.M622V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43432661T>C" "" "likely pathogenic" "" "0000519841" "0" "30" "3" "43591299" "43591299" "subst" "7.72992E-5" "01943" "ABHD5_000006" "g.43591299G>A" "" "" "" "ANO10(NM_001204831.2):c.1710C>T (p.N570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43549807G>A" "" "likely benign" "" "0000519842" "0" "30" "3" "43602807" "43602807" "subst" "0" "01943" "ABHD5_000007" "g.43602807C>T" "" "" "" "ANO10(NM_001204831.2):c.1381G>A (p.V461M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43561315C>T" "" "likely benign" "" "0000519846" "0" "10" "3" "43607241" "43607242" "dup" "0" "01943" "ABHD5_000010" "g.43607241_43607242dup" "" "" "" "ANO10(NM_001204831.2):c.1219-7_1219-6dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43565749_43565750dup" "" "benign" "" "0000519848" "0" "10" "3" "43607242" "43607242" "dup" "0" "01943" "ABHD5_000011" "g.43607242dup" "" "" "" "ANO10(NM_001204831.1):c.1219-6dup (p.(=)), ANO10(NM_001204831.2):c.1219-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43565750dup" "" "benign" "" "0000519849" "0" "30" "3" "43607242" "43607242" "dup" "0" "01804" "ABHD5_000011" "g.43607242dup" "" "" "" "ANO10(NM_001204831.1):c.1219-6dup (p.(=)), ANO10(NM_001204831.2):c.1219-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43565750dup" "" "likely benign" "" "0000519851" "0" "30" "3" "43640014" "43640016" "del" "0" "01943" "ABHD5_000012" "g.43640014_43640016del" "" "" "" "ANO10(NM_001204831.2):c.472+10_472+12delTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43598522_43598524del" "" "likely benign" "" "0000519852" "0" "30" "3" "43647340" "43647340" "subst" "4.06673E-5" "01943" "ABHD5_000013" "g.43647340T>A" "" "" "" "ANO10(NM_001204831.2):c.5A>T (p.K2I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43605848T>A" "" "likely benign" "" "0000519853" "0" "30" "3" "43732510" "43732510" "subst" "0.000816471" "01943" "ABHD5_000014" "g.43732510A>G" "" "" "" "ABHD5(NM_016006.5):c.26A>G (p.D9G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43691018A>G" "" "likely benign" "" "0000651247" "1" "90" "3" "43618202" "43618202" "subst" "0" "03575" "ANO10_000037" "g.43618202C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs144272231}" "Germline" "" "rs144272231" "0" "" "" "g.43576710C>A" "" "pathogenic" "" "0000676987" "0" "30" "3" "43618335" "43618335" "subst" "0.000186971" "01943" "ABHD5_000018" "g.43618335G>A" "" "" "" "ANO10(NM_001346464.1):c.1011C>T (p.F337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719435" "0" "50" "3" "43408418" "43408418" "del" "0" "02329" "ABHD5_000004" "g.43408418del" "" "" "" "ANO10(NM_018075.5):c.1965delG (p.K656Rfs*108)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000785350" "1" "90" "3" "43641875" "43641875" "subst" "4.4726E-5" "01164" "ANO10_000039" "g.43641875C>T" "" "PMID: 30515630" "" "" "ACMG: PVS1, PM3, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000785351" "2" "70" "3" "43474021" "43474300" "del" "0" "01164" "ANO10_000038" "g.43474021_43474300del" "" "" "" "del ex12" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000787201" "3" "50" "3" "43607206" "43607206" "subst" "0.000315254" "00006" "ANO10_000040" "g.43607206T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs762428946" "0" "" "" "g.43565714T>C" "" "VUS" "" "0000831078" "3" "90" "3" "43618183" "43618183" "subst" "4.07312E-6" "00435" "ANO10_000041" "g.43618183C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000831660" "3" "90" "3" "43618183" "43618183" "subst" "0" "00435" "ANO10_000041" "g.43618183C>T" "" "" "" "g.119904G>A" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840981" "3" "90" "3" "43618183" "43618183" "subst" "4.07312E-6" "00435" "ANO10_000041" "g.43618183C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000847149" "1" "90" "3" "43596901" "43596901" "subst" "0" "00006" "ANO10_000042" "g.43596901A>G" "" "{PMID:Thomas 2022:34085946}" "" "c.1537T>" "" "Germline" "" "" "0" "" "" "g.43555409A>G" "" "pathogenic" "ACMG" "0000847153" "3" "90" "3" "43647221" "43647221" "dup" "0" "00006" "ANO10_000026" "g.43647221dup" "" "{PMID:Thomas 2022:34085946}" "" "c.132dupA" "" "Germline" "" "" "0" "" "" "g.43605729dup" "" "pathogenic" "ACMG" "0000847177" "2" "90" "3" "43647221" "43647221" "dup" "0" "00006" "ANO10_000026" "g.43647221dup" "" "{PMID:Thomas 2022:34085946}" "" "c.132dupA" "" "Germline" "" "" "0" "" "" "g.43605729dup" "" "pathogenic" "" "0000850332" "0" "10" "3" "43607241" "43607242" "del" "0" "02325" "ABHD5_000020" "g.43607241_43607242del" "" "" "" "ANO10(NM_001204831.3):c.1219-7_1219-6delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850333" "0" "10" "3" "43607242" "43607242" "del" "0" "02325" "ANO10_000016" "g.43607242del" "" "" "" "ANO10(NM_001204831.2):c.1219-6delT, ANO10(NM_001204831.3):c.1219-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859026" "0" "50" "3" "43642063" "43642063" "subst" "0" "01943" "ABHD5_000021" "g.43642063C>G" "" "" "" "ANO10(NM_001346464.1):c.150G>C (p.L50F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885841" "0" "30" "3" "43618213" "43618213" "subst" "0.000670884" "02326" "ABHD5_000022" "g.43618213C>T" "" "" "" "ANO10(NM_018075.5):c.1133G>A (p.R378Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908856" "3" "90" "3" "43616365" "43616365" "subst" "4.06726E-6" "00006" "ANO10_000043" "g.43616365T>C" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, cryptic splice donor" "Germline" "" "" "0" "" "" "g.43574873T>C" "" "pathogenic (recessive)" "" "0000939879" "1" "70" "3" "43596901" "43596901" "subst" "0" "00006" "ANO10_000042" "g.43596901A>G" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.43555409A>G" "" "likely pathogenic (recessive)" "" "0000939909" "2" "70" "3" "43647221" "43647221" "dup" "0" "00006" "ANO10_000026" "g.43647221dup" "" "{PMID:Nambot 2018:29095811}" "" "132dupA" "" "Germline" "" "" "0" "" "" "g.43605729dup" "" "likely pathogenic (recessive)" "" "0000962782" "0" "10" "3" "43607239" "43607242" "dup" "0" "02329" "ABHD5_000023" "g.43607239_43607242dup" "" "" "" "ANO10(NM_001204831.3):c.1219-9_1219-6dupTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962784" "0" "10" "3" "43607240" "43607242" "dup" "0" "02329" "ABHD5_000024" "g.43607240_43607242dup" "" "" "" "ANO10(NM_001204831.3):c.1219-8_1219-6dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962785" "0" "10" "3" "43607241" "43607242" "del" "0" "02329" "ABHD5_000020" "g.43607241_43607242del" "" "" "" "ANO10(NM_001204831.3):c.1219-7_1219-6delTT, ANO10(NM_001346464.2):c.1219-7_1219-6delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000993668" "0" "50" "3" "43732498" "43732498" "subst" "8.57659E-5" "01804" "ABHD5_000026" "g.43732498A>C" "" "" "" "ABHD5(NM_016006.4):c.14A>C (p.(Glu5Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022066" "0" "70" "3" "43474153" "43474153" "subst" "0.000183241" "04796" "ABHD5_000005" "g.43474153T>C" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.43432661T>C" "" "likely pathogenic" "" "0001051288" "0" "50" "3" "43602826" "43602826" "subst" "0" "01804" "ABHD5_000028" "g.43602826C>G" "" "" "" "ANO10(NM_018075.5):c.1362G>C (p.(Trp454Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069220" "3" "50" "3" "43618184" "43618184" "subst" "0" "00006" "ANO10_000044" "g.43618184C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.43576692C>T" "SCV006074706" "VUS" "ACMG" "0001069977" "3" "90" "3" "43647221" "43647221" "dup" "0" "00006" "ANO10_000026" "g.43647221dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PS3_sup, PM2, PM3" "Germline" "" "" "0" "" "" "g.43605729dup" "SCV001755531" "pathogenic" "ACMG" ## 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 ANO10 ## Count = 79 "{{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}}" "0000245372" "00002589" "90" "132" "0" "132" "0" "c.132dup" "r.(?)" "p.(Asp45Argfs*9)" "" "0000245373" "00002589" "70" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Gln556*)" "" "0000249363" "00002589" "30" "1474" "0" "1474" "0" "c.1474T>C" "r.(?)" "p.(Leu492=)" "" "0000255218" "00002589" "30" "1914" "17" "1914" "17" "c.1914+17T>A" "r.(=)" "p.(=)" "" "0000255219" "00002589" "30" "1219" "-6" "1219" "-6" "c.1219-6del" "r.(=)" "p.(=)" "" "0000256338" "00002589" "50" "236" "0" "236" "0" "c.236T>G" "r.(?)" "p.(Met79Arg)" "" "0000256700" "00002589" "50" "1915" "-5752" "1915" "-5752" "c.1915-5752T>C" "r.(=)" "p.(=)" "" "0000258864" "00002589" "10" "-69107" "0" "-69107" "0" "c.-69107C>T" "r.(?)" "p.(=)" "" "0000259090" "00002589" "10" "1066" "0" "1066" "0" "c.1066A>G" "r.(?)" "p.(Ser356Gly)" "" "0000259091" "00002589" "10" "1293" "9" "1293" "9" "c.1293+9A>G" "r.(=)" "p.(=)" "" "0000259092" "00002589" "10" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000259093" "00002589" "10" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Thr561Met)" "" "0000259488" "00002589" "30" "980" "0" "980" "0" "c.980A>G" "r.(?)" "p.(Tyr327Cys)" "" "0000262520" "00002589" "10" "1066" "0" "1066" "0" "c.1066A>G" "r.(?)" "p.(Ser356Gly)" "" "0000262521" "00002589" "30" "1219" "-5" "1219" "-5" "c.1219-5G>T" "r.spl?" "p.?" "" "0000262524" "00002589" "50" "1282" "0" "1282" "0" "c.1282C>G" "r.(?)" "p.(Leu428Val)" "" "0000262525" "00002589" "10" "1293" "26" "1293" "26" "c.1293+26C>T" "r.(=)" "p.(=)" "" "0000262526" "00002589" "10" "1293" "9" "1293" "9" "c.1293+9A>G" "r.(=)" "p.(=)" "" "0000262527" "00002589" "10" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000262528" "00002589" "10" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Thr561Met)" "" "0000262529" "00002589" "30" "1683" "0" "1683" "0" "c.1683G>C" "r.(?)" "p.(Thr561=)" "" "0000262530" "00002589" "70" "1843" "0" "1843" "0" "c.1843G>A" "r.(?)" "p.(Asp615Asn)" "" "0000262531" "00002589" "50" "1876" "0" "1876" "0" "c.1876A>G" "r.(?)" "p.(Arg626Gly)" "" "0000262532" "00002589" "30" "473" "-6" "473" "-6" "c.473-6G>A" "r.(=)" "p.(=)" "" "0000262533" "00002589" "10" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(Leu162=)" "" "0000262534" "00002589" "10" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263His)" "" "0000262535" "00002589" "30" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Gly264Ser)" "" "0000262536" "00002589" "30" "924" "0" "924" "0" "c.924C>T" "r.(?)" "p.(Tyr308=)" "" "0000262537" "00002589" "50" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Val322Met)" "" "0000262538" "00002589" "30" "980" "0" "980" "0" "c.980A>G" "r.(?)" "p.(Tyr327Cys)" "" "0000338090" "00002589" "30" "2268" "0" "2268" "0" "c.*285C>T" "r.(=)" "p.(=)" "" "0000338095" "00002589" "10" "1293" "9" "1293" "9" "c.1293+9A>G" "r.(=)" "p.(=)" "" "0000338098" "00002589" "30" "-83" "0" "-83" "0" "c.-83T>C" "r.(?)" "p.(=)" "" "0000342460" "00002589" "30" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263His)" "" "0000342946" "00002589" "10" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000344841" "00002589" "90" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Gln431Ter)" "" "0000345890" "00002589" "50" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Gly229Trp)" "" "0000347606" "00002589" "50" "1818" "0" "1818" "0" "c.1818G>C" "r.(?)" "p.(Lys606Asn)" "" "0000348028" "00002589" "50" "1009" "0" "1009" "0" "c.1009T>G" "r.(?)" "p.(Phe337Val)" "" "0000348960" "00002589" "10" "1066" "0" "1066" "0" "c.1066A>G" "r.(?)" "p.(Ser356Gly)" "" "0000349161" "00002589" "50" "223" "0" "223" "0" "c.223T>A" "r.(?)" "p.(Ser75Thr)" "" "0000349565" "00002589" "10" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Thr561Met)" "" "0000350496" "00002589" "50" "1021" "0" "1021" "0" "c.1021G>C" "r.(?)" "p.(Val341Leu)" "" "0000519839" "00002589" "70" "1864" "0" "1864" "0" "c.1864A>G" "r.(?)" "p.(Met622Val)" "" "0000519841" "00002589" "30" "1710" "0" "1710" "0" "c.1710C>T" "r.(?)" "p.(Asn570=)" "" "0000519842" "00002589" "30" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Val461Met)" "" "0000519846" "00002589" "10" "1219" "-7" "1219" "-6" "c.1219-7_1219-6dup" "r.(=)" "p.(=)" "" "0000519848" "00002589" "10" "1219" "-6" "1219" "-6" "c.1219-6dup" "r.(=)" "p.(=)" "" "0000519849" "00002589" "30" "1219" "-6" "1219" "-6" "c.1219-6dup" "r.(=)" "p.(=)" "" "0000519851" "00002589" "30" "472" "10" "472" "12" "c.472+10_472+12del" "r.(=)" "p.(=)" "" "0000519852" "00002589" "30" "5" "0" "5" "0" "c.5A>T" "r.(?)" "p.(Lys2Ile)" "" "0000519853" "00002589" "30" "-69121" "0" "-69121" "0" "c.-69121T>C" "r.(?)" "p.(=)" "" "0000651247" "00002589" "90" "1144" "0" "1144" "0" "c.1144G>T" "r.(?)" "p.(Glu382*)" "" "0000676987" "00002589" "30" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(Phe337=)" "" "0000719435" "00002589" "50" "1965" "0" "1965" "0" "c.1965del" "r.(?)" "p.(Lys656ArgfsTer108)" "" "0000785350" "00002589" "90" "337" "1" "337" "1" "c.337+1G>A" "r.spl?" "p.?" "" "0000785351" "00002589" "70" "1798" "-81" "1914" "82" "c.1798-81_1914+82del" "r.(?)" "p.(His600_Gln638del)" "11i_12i" "0000787201" "00002589" "50" "1232" "0" "1232" "0" "c.1232A>G" "r.(?)" "p.(Asn411Ser)" "8" "0000831078" "00002589" "90" "1162" "1" "1162" "1" "c.1162+1G>A" "r.spl" "p.?" "6i" "0000831660" "00002589" "90" "1162" "1" "1162" "1" "c.1162+1G>A" "r.spl" "p.?" "6" "0000840981" "00002589" "90" "1162" "1" "1162" "1" "c.1162+1G>A" "r.spl" "p.?" "" "0000847149" "00002589" "90" "1537" "0" "1537" "0" "c.1537T>C" "r.(?)" "p.(Cys513Arg)" "" "0000847153" "00002589" "90" "132" "0" "132" "0" "c.132dup" "r.(?)" "p.(Asp45ArgfsTer9)" "" "0000847177" "00002589" "90" "132" "0" "132" "0" "c.132dup" "r.(?)" "p.(Asp45ArgfsTer9)" "" "0000850332" "00002589" "10" "1219" "-7" "1219" "-6" "c.1219-7_1219-6del" "r.(=)" "p.(=)" "" "0000850333" "00002589" "10" "1219" "-6" "1219" "-6" "c.1219-6del" "r.(=)" "p.(=)" "" "0000859026" "00002589" "50" "150" "0" "150" "0" "c.150G>C" "r.(?)" "p.(Leu50Phe)" "" "0000885841" "00002589" "30" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Arg378Gln)" "" "0000908856" "00002589" "90" "1163" "-9" "1163" "-9" "c.1163-9A>G" "r.[1163_1218del,1162_1163ins[1163-8_1163-1]]" "p.[Glu388Valfs*69,Glu388Valfs*3]" "" "0000939879" "00002589" "70" "1537" "0" "1537" "0" "c.1537T>C" "r.(?)" "p.(Cys513Arg)" "10" "0000939909" "00002589" "70" "132" "0" "132" "0" "c.132dup" "r.(?)" "p.(Asp45ArgfsTer9)" "2" "0000962782" "00002589" "10" "1219" "-9" "1219" "-6" "c.1219-9_1219-6dup" "r.(=)" "p.(=)" "" "0000962784" "00002589" "10" "1219" "-8" "1219" "-6" "c.1219-8_1219-6dup" "r.(=)" "p.(=)" "" "0000962785" "00002589" "10" "1219" "-7" "1219" "-6" "c.1219-7_1219-6del" "r.(=)" "p.(=)" "" "0000993668" "00002589" "50" "-69109" "0" "-69109" "0" "c.-69109T>G" "r.(?)" "p.(=)" "" "0001022066" "00002589" "70" "1864" "0" "1864" "0" "c.1864A>G" "r.[1798_1914del,=]" "p.[His600_Gln638del,Met622Val]" "12" "0001051288" "00002589" "50" "1362" "0" "1362" "0" "c.1362G>C" "r.(?)" "p.(Trp454Cys)" "" "0001069220" "00002589" "50" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Glu388Lys)" "" "0001069977" "00002589" "90" "132" "0" "132" "0" "c.132dup" "r.(?)" "p.(Asp45ArgfsTer9)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000152239" "0000245372" "0000152239" "0000245373" "0000294558" "0000651247" "0000374528" "0000785350" "0000374528" "0000785351" "0000375850" "0000787201" "0000398818" "0000831078" "0000399303" "0000831660" "0000404999" "0000840981" "0000409933" "0000847149" "0000409933" "0000847177" "0000409937" "0000847153" "0000429383" "0000908856" "0000441937" "0000939879" "0000441937" "0000939909" "0000462539" "0001022066" "0000474822" "0001069220" "0000475584" "0001069977"