### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NEUROD1) # 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}}" "NEUROD1" "neuronal differentiation 1" "2" "q32" "unknown" "NG_011820.3" "UD_132118822085" "" "https://www.LOVD.nl/NEUROD1" "" "1" "7762" "4760" "601724" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/NEUROD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-01-28 13:57:29" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025595" "NEUROD1" "neuronal differentiation 1" "001" "NM_002500.4" "" "NP_002491.2" "" "" "" "-247" "2755" "1071" "182545392" "182540833" "00006" "2021-01-28 13:56:14" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00151" "NIDDM" "diabetes mellitus, type II (NIDDM)" "AD" "125853" "" "" "" "00001" "2013-06-14 15:56:30" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02584" "MODY6" "diabetes of the young, maturity-onset, type 6 (MODY6)" "" "606394" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-28 13:57:13" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04215" "STGD" "Stargardt disease (STGD)" "" "" "" "" "" "00006" "2015-02-27 20:01:12" "" "" "05593" "MODY" "diabetes of the young, maturity-onset (MODY)" "" "" "" "" "" "00006" "2019-04-18 09:05:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NEUROD1" "00151" "NEUROD1" "02584" "NEUROD1" "05593" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00232368" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232369" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232370" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232371" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232372" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232373" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232374" "" "" "" "187" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232375" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233648" "" "" "" "1007" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00292502" "" "" "" "105" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304760" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00386208" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-329" "00390212" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000249" "00409942" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25477324}" "" "M" "" "United States" "" "0" "" "" "Han Chinese" "III:3" "00409943" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25477324}" "" "F" "" "United States" "" "0" "" "" "Han Chinese" "III:4" "00409944" "" "" "" "1" "" "00000" "{PMID:Orsosz 2015:25684977}" "" "F" "" "Hungary" "" "0" "" "" "" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00232368" "04214" "00232369" "04214" "00232370" "04214" "00232371" "04214" "00232372" "04214" "00232373" "04214" "00232374" "04214" "00232375" "04214" "00233648" "04214" "00292502" "00198" "00304760" "00198" "00386208" "04214" "00390212" "04214" "00409942" "04214" "00409943" "04214" "00409944" "04215" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00151, 00198, 02584, 04214, 04215, 05593 ## Count = 5 "{{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}}" "0000280011" "04214" "00386208" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000283750" "04214" "00390212" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000302056" "04214" "00409942" "00000" "Familial, autosomal recessive" "33y" "best corrected visual acuity right, left eye: 0.6/0.6; anterior segment: not available; fundus: bone-spicule pigmentation in the mid-periphery; optical coherence tomography: increased retinal thickness in the macular region with discontinuous is/os junction; visual field: loss of upper and temporal visual field; electroretinogram: moderately decreased rod and cone responses; body mass index: 20.2; fasting blood glucose, mmol/l: 5.4; hba1c (glycosylated hemoglobin), %: 6.5; no developmental delay; no ataxia; no sensorineural deafness; no seizures" "18y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302057" "04214" "00409943" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: 0.1/0.15; anterior segment: dense subcapsular cataract; fundus: diffused rpe and choroidal atrophy with bone-spicule pigmentation; optical coherence tomography: no clear image because of cataract; visual field: not available; electroretinogram: nonrecordable; body mass index: 18.4; fasting blood glucose, mmol/l: 5.1; hba1c (glycosylated hemoglobin), %: 6.2; no developmental delay; no ataxia; no sensorineural deafness; no seizures" "10y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302058" "04215" "00409944" "00000" "Familial, autosomal recessive" "19y" "neonatal diabetes; normal blood glucose control using insulin supplementation; slowly-progressive blurry vision, constriction of the visual field, difficulties seeing at night or in dim light, beginning in early childhood. Best corrected visual acuity - slow decrease during the exam period, ranging from 20/25 to 15/25; refractive error: no changes: -7.5D spherical with +3.0D cylindrical correction both eyes; visual field: 18y: perimetry showed concentric constriction of the visual field, sparing the central 30 degrees in both eyes; normal color recognition on pseudoisochromatic charts; anterior segment: regular oblique corneal astigmatism; corneal thickness near normal, with a central corneal thickness of 600 µm; no keratoconus; anterior chamber depth and angle: normal; funduscopy: optically clear media throughout the cornea, lens and vitreous; retinal pigmented epithelium: mottling at the posterior pole and diffuse atrophy in the periphery; no bone spicule, no pigment clumping; optic disc slightly pale but near normal appearance; diameter of retinal vessels normal, central foveal spot enlarged, no diabetic retinopathy; fundus autofluorescence: a dark fovea surrounded by a hyperreflective ring, as seen in other hereditary retinal dystrophies; increased autofluorescence of the choroid, mottling of the retinal pigment epithelium in the posterior pole; optical coherence tomography: reduced retinal thickness; outside the fovea, the neurosensory retina lacked the external limiting membrane, photoreceptorouter segment, and photoreceptor inner segment; progressive loss of cone photoreceptors. electroretinography: response not detectable" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000233467" "00232368" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233468" "00232369" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233469" "00232370" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233470" "00232371" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233471" "00232372" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233472" "00232373" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233473" "00232374" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233474" "00232375" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234747" "00233648" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000293670" "00292502" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305889" "00304760" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000387437" "00386208" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000391453" "00390212" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000411205" "00409942" "1" "00000" "03840" "2022-05-14 12:06:33" "" "" "SEQ-NG;SEQ" "DNA" "blood" "Whole exome sequencing" "0000411206" "00409943" "1" "00000" "03840" "2022-05-14 12:06:33" "" "" "SEQ-NG;SEQ" "DNA" "blood" "Whole exome sequencing" "0000411207" "00409944" "1" "00000" "03840" "2022-05-14 13:19:37" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000233467" "NEUROD1" "0000233468" "NEUROD1" "0000233469" "NEUROD1" "0000233470" "NEUROD1" "0000233471" "NEUROD1" "0000233472" "NEUROD1" "0000233473" "NEUROD1" "0000233474" "NEUROD1" "0000234747" "NEUROD1" "0000387437" "NEUROD1" "0000391453" "CERKL" "0000411205" "NEUROD1" "0000411206" "NEUROD1" "0000411207" "NEUROD1" ## 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 = 63 "{{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}}" "0000293063" "0" "30" "2" "182542795" "182542795" "subst" "4.06187E-6" "02330" "NEUROD1_000001" "g.182542795T>G" "" "" "" "NEUROD1(NM_002500.5):c.793A>C (p.T265P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181678068T>G" "" "likely benign" "" "0000296422" "0" "10" "2" "182543455" "182543455" "subst" "0.701349" "02325" "NEUROD1_000007" "g.182543455T>C" "" "" "" "NEUROD1(NM_002500.5):c.133A>G (p.T45A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181678728T>C" "" "benign" "" "0000327996" "0" "30" "2" "182542811" "182542811" "subst" "0.000308649" "01804" "NEUROD1_000002" "g.182542811G>A" "" "" "" "NEUROD1(NM_002500.4):c.777C>T (p.S259=, p.(Ser259=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181678084G>A" "" "likely benign" "" "0000328000" "0" "30" "2" "182542998" "182542998" "subst" "0.019104" "01804" "NEUROD1_000006" "g.182542998G>T" "" "" "" "NEUROD1(NM_002500.4):c.590C>A (p.(Pro197His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181678271G>T" "" "likely benign" "" "0000328001" "0" "30" "2" "182543459" "182543459" "subst" "0.000614996" "01804" "NEUROD1_000008" "g.182543459G>T" "" "" "" "NEUROD1(NM_002500.4):c.129C>A (p.(Leu43=)), NEUROD1(NM_002500.5):c.129C>A (p.L43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181678732G>T" "" "likely benign" "" "0000476175" "0" "50" "2" "182542595" "182542595" "subst" "4.06322E-6" "02591" "NEUROD1_000009" "g.182542595G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs764112638" "0" "" "" "g.181677868G>T" "" "VUS" "" "0000476176" "0" "50" "2" "182542598" "182542598" "subst" "0" "02591" "NEUROD1_000010" "g.182542598T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.181677871T>C" "" "VUS" "" "0000476177" "0" "50" "2" "182542624" "182542624" "subst" "0.000134055" "02591" "NEUROD1_000011" "g.182542624C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs754458532" "0" "" "" "g.181677897C>T" "" "VUS" "" "0000476178" "0" "50" "2" "182542864" "182542864" "subst" "0" "02591" "NEUROD1_000012" "g.182542864C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.181678137C>A" "" "VUS" "" "0000476179" "0" "50" "2" "182543356" "182543356" "subst" "1.62955E-5" "02591" "NEUROD1_000013" "g.182543356C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs748959606" "0" "" "" "g.181678629C>A" "" "VUS" "" "0000476180" "0" "50" "2" "182543356" "182543356" "subst" "4.07388E-6" "02591" "NEUROD1_000014" "g.182543356C>G" "2/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs748959606" "0" "" "" "g.181678629C>G" "" "VUS" "" "0000476181" "0" "50" "2" "182543455" "182543455" "subst" "0.701349" "02591" "NEUROD1_000007" "g.182543455T>C" "187/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "c.133A>G (p.(Thr45Ala))" "" "Germline" "" "rs1801262" "0" "" "" "g.181678728T>C" "" "VUS" "" "0000476182" "0" "50" "2" "182543509" "182543509" "subst" "1.22001E-5" "02591" "NEUROD1_000015" "g.182543509G>A" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs766645933" "0" "" "" "g.181678782G>A" "" "VUS" "" "0000477455" "3" "50" "2" "182543455" "182543455" "subst" "0.701349" "02591" "NEUROD1_000007" "g.182543455T>C" "1007/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "c.133A>G (p.(Thr45Ala))" "" "Germline" "" "rs1801262" "0" "" "" "g.181678728T>C" "" "VUS" "" "0000513627" "0" "50" "2" "182542557" "182542557" "subst" "3.25082E-5" "01804" "NEUROD1_000016" "g.182542557C>T" "" "" "" "NEUROD1(NM_002500.4):c.1031G>A (p.(Arg344Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181677830C>T" "" "VUS" "" "0000513628" "0" "50" "2" "182542615" "182542615" "subst" "0.000199083" "01804" "NEUROD1_000017" "g.182542615G>T" "" "" "" "NEUROD1(NM_002500.4):c.973C>A (p.(Arg325Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181677888G>T" "" "VUS" "" "0000513629" "0" "30" "2" "182542688" "182542688" "subst" "0.000129944" "01804" "NEUROD1_000018" "g.182542688G>A" "" "" "" "NEUROD1(NM_002500.4):c.900C>T (p.(Thr300=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181677961G>A" "" "likely benign" "" "0000513630" "0" "30" "2" "182542715" "182542715" "subst" "8.12196E-6" "01804" "NEUROD1_000019" "g.182542715G>A" "" "" "" "NEUROD1(NM_002500.4):c.873C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181677988G>A" "" "likely benign" "" "0000513631" "0" "30" "2" "182542811" "182542811" "subst" "0.000308649" "01943" "NEUROD1_000002" "g.182542811G>A" "" "" "" "NEUROD1(NM_002500.4):c.777C>T (p.S259=, p.(Ser259=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181678084G>A" "" "likely benign" "" "0000513632" "0" "30" "2" "182542837" "182542837" "subst" "0.000162438" "01804" "NEUROD1_000020" "g.182542837C>A" "" "" "" "NEUROD1(NM_002500.4):c.751G>T (p.(Ala251Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181678110C>A" "" "likely benign" "" "0000513633" "0" "30" "2" "182542850" "182542850" "subst" "0.000117767" "01804" "NEUROD1_000021" "g.182542850C>T" "" "" "" "NEUROD1(NM_002500.4):c.738G>A (p.(Pro246=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181678123C>T" "" "likely benign" "" "0000513634" "0" "50" "2" "182542865" "182542865" "subst" "0.000844697" "01943" "NEUROD1_000022" "g.182542865G>C" "" "" "" "NEUROD1(NM_002500.4):c.723C>G (p.H241Q, p.(His241Gln)), NEUROD1(NM_002500.5):c.723C>G (p.H241Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181678138G>C" "" "VUS" "" "0000513635" "0" "70" "2" "182542972" "182542972" "subst" "3.66125E-5" "01804" "NEUROD1_000023" "g.182542972G>T" "" "" "" "NEUROD1(NM_002500.4):c.616C>A (p.(His206Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181678245G>T" "" "likely pathogenic" "" "0000513636" "0" "90" "2" "182542978" "182542978" "dup" "0" "01804" "NEUROD1_000024" "g.182542978dup" "" "" "" "NEUROD1(NM_002500.4):c.616dup (p.(His206Profs*38))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181678251dup" "" "pathogenic" "" "0000513638" "0" "30" "2" "182543279" "182543279" "subst" "4.06065E-6" "01804" "NEUROD1_000026" "g.182543279G>T" "" "" "" "NEUROD1(NM_002500.4):c.309C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181678552G>T" "" "likely benign" "" "0000513639" "0" "70" "2" "182543313" "182543313" "subst" "8.12447E-6" "01804" "NEUROD1_000027" "g.182543313G>A" "" "" "" "NEUROD1(NM_002500.4):c.275C>T (p.(Thr92Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181678586G>A" "" "likely pathogenic" "" "0000513640" "0" "30" "2" "182543354" "182543354" "subst" "8.14239E-6" "02330" "NEUROD1_000028" "g.182543354A>G" "" "" "" "NEUROD1(NM_002500.5):c.234T>C (p.D78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181678627A>G" "" "likely benign" "" "0000513641" "0" "30" "2" "182543459" "182543459" "subst" "0.000614996" "02330" "NEUROD1_000008" "g.182543459G>T" "" "" "" "NEUROD1(NM_002500.4):c.129C>A (p.(Leu43=)), NEUROD1(NM_002500.5):c.129C>A (p.L43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181678732G>T" "" "likely benign" "" "0000620899" "0" "50" "2" "182542838" "182542838" "subst" "0.000158379" "01943" "NEUROD1_000029" "g.182542838G>T" "" "" "" "NEUROD1(NM_002500.4):c.750C>A (p.S250R, p.(Ser250Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181678111G>T" "" "VUS" "" "0000650359" "1" "30" "2" "182542998" "182542998" "subst" "0.019104" "03575" "NEUROD1_000006" "g.182542998G>T" "105/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "105 heterozygous; {DB:CLININrs8192556}" "Germline" "" "rs8192556" "0" "" "" "g.181678271G>T" "" "likely benign" "" "0000669577" "3" "30" "2" "182542998" "182542998" "subst" "0.019104" "03575" "NEUROD1_000006" "g.182542998G>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs8192556}" "Germline" "" "rs8192556" "0" "" "" "g.181678271G>T" "" "likely benign" "" "0000688578" "0" "50" "2" "182543478" "182543478" "subst" "0" "01943" "NEUROD1_000030" "g.182543478T>G" "" "" "" "NEUROD1(NM_002500.4):c.110A>C (p.D37A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800220" "0" "50" "2" "182542533" "182542533" "subst" "8.12559E-6" "01943" "NEUROD1_000031" "g.182542533G>T" "" "" "" "NEUROD1(NM_002500.4):c.1055C>A (p.A352D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800221" "0" "30" "2" "182542916" "182542916" "subst" "0" "02330" "NEUROD1_000032" "g.182542916A>G" "" "" "" "NEUROD1(NM_002500.5):c.672T>C (p.P224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800222" "0" "30" "2" "182543432" "182543432" "subst" "0" "01943" "NEUROD1_000033" "g.182543432T>C" "" "" "" "NEUROD1(NM_002500.4):c.156A>G (p.S52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815321" "0" "50" "2" "182542575" "182542575" "subst" "8.1283E-5" "00000" "NEUROD1_000034" "g.182542575C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "NEUROD1:NM_002500 c.G1013C, p.S338T" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.181677848C>G" "" "VUS" "ACMG" "0000821534" "0" "70" "2" "182379157" "182765581" "del" "0" "00000" "SNRNP200_000007" "g.182379157_182765581del" "" "{PMID:Turro 2020:32581362}" "" "chr2:g.182379157_182765581del" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000849615" "0" "30" "2" "182542865" "182542865" "subst" "0.000844697" "02330" "NEUROD1_000022" "g.182542865G>C" "" "" "" "NEUROD1(NM_002500.4):c.723C>G (p.H241Q, p.(His241Gln)), NEUROD1(NM_002500.5):c.723C>G (p.H241Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849616" "0" "50" "2" "182542865" "182542865" "subst" "0.000844697" "01804" "NEUROD1_000022" "g.182542865G>C" "" "" "" "NEUROD1(NM_002500.4):c.723C>G (p.H241Q, p.(His241Gln)), NEUROD1(NM_002500.5):c.723C>G (p.H241Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858207" "0" "50" "2" "182542672" "182542672" "subst" "0" "01804" "NEUROD1_000035" "g.182542672C>T" "" "" "" "NEUROD1(NM_002500.4):c.916G>A (p.(Ala306Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858208" "0" "30" "2" "182542802" "182542802" "subst" "4.06128E-6" "01804" "NEUROD1_000036" "g.182542802A>T" "" "" "" "NEUROD1(NM_002500.4):c.786T>A (p.(Thr262=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858209" "0" "30" "2" "182542838" "182542838" "subst" "0.000158379" "01804" "NEUROD1_000029" "g.182542838G>T" "" "" "" "NEUROD1(NM_002500.4):c.750C>A (p.S250R, p.(Ser250Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858210" "0" "50" "2" "182542972" "182542972" "subst" "1.62722E-5" "01804" "NEUROD1_000038" "g.182542972G>C" "" "" "" "NEUROD1(NM_002500.4):c.616C>G (p.(His206Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858211" "0" "50" "2" "182542977" "182542977" "subst" "0" "01804" "NEUROD1_000039" "g.182542977G>C" "" "" "" "NEUROD1(NM_002500.4):c.611C>G (p.(Pro204Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858212" "0" "30" "2" "182543372" "182543372" "subst" "0" "01804" "NEUROD1_000041" "g.182543372C>T" "" "" "" "NEUROD1(NM_002500.4):c.216G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858213" "0" "30" "2" "182543554" "182543554" "subst" "0.000117787" "01804" "NEUROD1_000042" "g.182543554C>G" "" "" "" "NEUROD1(NM_002500.4):c.34G>C (p.(Gly12Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868244" "3" "70" "2" "182542864" "182542864" "subst" "0" "00000" "NEUROD1_000037" "g.182542864C>T" "" "{PMID:Wang 2014:25477324}" "" "NEUROD1 c.724G>A, p.(Val242Ile)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181678137C>T" "" "likely pathogenic" "" "0000868245" "3" "70" "2" "182542864" "182542864" "subst" "0" "00000" "NEUROD1_000037" "g.182542864C>T" "" "{PMID:Wang 2014:25477324}" "" "NEUROD1 c.724G>A, p.(Val242Ile)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181678137C>T" "" "likely pathogenic" "" "0000868246" "3" "70" "2" "182543162" "182543163" "del" "0" "00000" "NEUROD1_000040" "g.182543162_182543163del" "" "{PMID:Orsosz 2015:25684977}" "" "NEUROD1 c.427_428del, p.Asp122Glyfs*12" "error in annotation: first affected amino acid rule shifts it to p.Leu143Alafs*55; homozygous" "Germline" "?" "" "0" "" "" "g.181678435_181678436del" "" "likely pathogenic" "" "0000884627" "0" "30" "2" "182542657" "182542657" "subst" "1.23339E-5" "01804" "NEUROD1_000043" "g.182542657C>T" "" "" "" "NEUROD1(NM_002500.4):c.931G>A (p.(Ala311Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884628" "0" "30" "2" "182542817" "182542817" "subst" "4.06114E-6" "02330" "NEUROD1_000003" "g.182542817A>G" "" "" "" "NEUROD1(NM_002500.5):c.771T>C (p.F257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884629" "0" "90" "2" "182542895" "182542895" "subst" "0" "01804" "NEUROD1_000044" "g.182542895G>T" "" "" "" "NEUROD1(NM_002500.4):c.693C>A (p.(Tyr231*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000884630" "0" "30" "2" "182543231" "182543231" "subst" "2.43635E-5" "01804" "NEUROD1_000045" "g.182543231C>T" "" "" "" "NEUROD1(NM_002500.4):c.357G>A (p.(Ala119=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884631" "0" "50" "2" "182543256" "182543256" "subst" "0" "01804" "NEUROD1_000046" "g.182543256C>T" "" "" "" "NEUROD1(NM_002500.4):c.332G>A (p.(Arg111Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884632" "0" "50" "2" "182543511" "182543511" "subst" "8.1369E-6" "01804" "NEUROD1_000047" "g.182543511C>G" "" "" "" "NEUROD1(NM_002500.4):c.77G>C (p.(Cys26Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911481" "0" "50" "2" "182543133" "182543133" "subst" "0" "01804" "NEUROD1_000048" "g.182543133G>A" "" "" "" "NEUROD1(NM_002500.4):c.455C>T (p.(Ala152Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923530" "0" "50" "2" "182542603" "182542603" "subst" "0" "01804" "NEUROD1_000049" "g.182542603G>A" "" "" "" "NEUROD1(NM_002500.4):c.985C>T (p.(Pro329Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923531" "0" "50" "2" "182542830" "182542830" "subst" "5.27923E-5" "01804" "NEUROD1_000050" "g.182542830A>G" "" "" "" "NEUROD1(NM_002500.4):c.758T>C (p.(Leu253Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974798" "0" "30" "2" "182542923" "182542923" "subst" "0.000134086" "01804" "NEUROD1_000051" "g.182542923T>A" "" "" "" "NEUROD1(NM_002500.4):c.665A>T (p.(Gln222Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974799" "0" "50" "2" "182543157" "182543157" "subst" "0" "01804" "NEUROD1_000052" "g.182543157C>A" "" "" "" "NEUROD1(NM_002500.4):c.431G>T (p.(Arg144Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992284" "0" "50" "2" "182542600" "182542601" "del" "0" "01804" "NEUROD1_000053" "g.182542600_182542601del" "" "" "" "NEUROD1(NM_002500.4):c.987_988delCA (p.(Ile330fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045789" "0" "50" "2" "182542742" "182542742" "subst" "0" "01804" "NEUROD1_000054" "g.182542742G>T" "" "" "" "NEUROD1(NM_002500.4):c.846C>A (p.(Asn282Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045790" "0" "50" "2" "182543263" "182543263" "subst" "0" "01804" "NEUROD1_000055" "g.182543263G>A" "" "" "" "NEUROD1(NM_002500.4):c.325C>T (p.(Arg109Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NEUROD1 ## Count = 63 "{{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}}" "0000293063" "00025595" "30" "793" "0" "793" "0" "c.793A>C" "r.(?)" "p.(Thr265Pro)" "" "0000296422" "00025595" "10" "133" "0" "133" "0" "c.133=" "r.(=)" "p.(Ala45=)" "" "0000327996" "00025595" "30" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Ser259=)" "" "0000328000" "00025595" "30" "590" "0" "590" "0" "c.590C>A" "r.(?)" "p.(Pro197His)" "" "0000328001" "00025595" "30" "129" "0" "129" "0" "c.129C>A" "r.(?)" "p.(Leu43=)" "" "0000476175" "00025595" "50" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "" "0000476176" "00025595" "50" "990" "0" "990" "0" "c.990A>G" "r.(?)" "p.(Ile330Met)" "" "0000476177" "00025595" "50" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Ala322Thr)" "" "0000476178" "00025595" "50" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Val242Phe)" "" "0000476179" "00025595" "50" "232" "0" "232" "0" "c.232G>T" "r.(?)" "p.(Asp78Tyr)" "" "0000476180" "00025595" "50" "232" "0" "232" "0" "c.232G>C" "r.(?)" "p.(Asp78His)" "" "0000476181" "00025595" "50" "133" "0" "133" "0" "c.133A>G" "r.(?)" "p.(Thr45Ala)" "" "0000476182" "00025595" "50" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Leu27Phe)" "" "0000477455" "00025595" "50" "133" "0" "133" "0" "c.133A>G" "r.(?)" "p.(Thr45Ala)" "" "0000513627" "00025595" "50" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344Gln)" "" "0000513628" "00025595" "50" "973" "0" "973" "0" "c.973C>A" "r.(?)" "p.(Arg325Ser)" "" "0000513629" "00025595" "30" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(Thr300=)" "" "0000513630" "00025595" "30" "873" "0" "873" "0" "c.873C>T" "r.(?)" "p.(Ala291=)" "" "0000513631" "00025595" "30" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Ser259=)" "" "0000513632" "00025595" "30" "751" "0" "751" "0" "c.751G>T" "r.(?)" "p.(Ala251Ser)" "" "0000513633" "00025595" "30" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Pro246=)" "" "0000513634" "00025595" "50" "723" "0" "723" "0" "c.723C>G" "r.(?)" "p.(His241Gln)" "" "0000513635" "00025595" "70" "616" "0" "616" "0" "c.616C>A" "r.(?)" "p.(His206Asn)" "" "0000513636" "00025595" "90" "616" "0" "616" "0" "c.616dup" "r.(?)" "p.(His206ProfsTer38)" "" "0000513638" "00025595" "30" "309" "0" "309" "0" "c.309C>A" "r.(?)" "p.(Arg103=)" "" "0000513639" "00025595" "70" "275" "0" "275" "0" "c.275C>T" "r.(?)" "p.(Thr92Ile)" "" "0000513640" "00025595" "30" "234" "0" "234" "0" "c.234T>C" "r.(?)" "p.(Asp78=)" "" "0000513641" "00025595" "30" "129" "0" "129" "0" "c.129C>A" "r.(?)" "p.(Leu43=)" "" "0000620899" "00025595" "50" "750" "0" "750" "0" "c.750C>A" "r.(?)" "p.(Ser250Arg)" "" "0000650359" "00025595" "30" "590" "0" "590" "0" "c.590C>A" "r.(?)" "p.(Pro197His)" "" "0000669577" "00025595" "30" "590" "0" "590" "0" "c.590C>A" "r.(?)" "p.(Pro197His)" "" "0000688578" "00025595" "50" "110" "0" "110" "0" "c.110A>C" "r.(?)" "p.(Asp37Ala)" "" "0000800220" "00025595" "50" "1055" "0" "1055" "0" "c.1055C>A" "r.(?)" "p.(Ala352Asp)" "" "0000800221" "00025595" "30" "672" "0" "672" "0" "c.672T>C" "r.(?)" "p.(Pro224=)" "" "0000800222" "00025595" "30" "156" "0" "156" "0" "c.156A>G" "r.(?)" "p.(Ser52=)" "" "0000815321" "00025595" "50" "1013" "0" "1013" "0" "c.1013G>C" "r.(?)" "p.(Ser338Thr)" "" "0000821534" "00025595" "70" "-220436" "0" "164431" "0" "c.-220436_*163360del" "r.0?" "p.0?" "" "0000849615" "00025595" "30" "723" "0" "723" "0" "c.723C>G" "r.(?)" "p.(His241Gln)" "" "0000849616" "00025595" "50" "723" "0" "723" "0" "c.723C>G" "r.(?)" "p.(His241Gln)" "" "0000858207" "00025595" "50" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000858208" "00025595" "30" "786" "0" "786" "0" "c.786T>A" "r.(?)" "p.(Thr262=)" "" "0000858209" "00025595" "30" "750" "0" "750" "0" "c.750C>A" "r.(?)" "p.(Ser250Arg)" "" "0000858210" "00025595" "50" "616" "0" "616" "0" "c.616C>G" "r.(?)" "p.(His206Asp)" "" "0000858211" "00025595" "50" "611" "0" "611" "0" "c.611C>G" "r.(?)" "p.(Pro204Arg)" "" "0000858212" "00025595" "30" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Glu72=)" "" "0000858213" "00025595" "30" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "" "0000868244" "00025595" "70" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Ile)" "" "0000868245" "00025595" "70" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Ile)" "" "0000868246" "00025595" "70" "427" "0" "428" "0" "c.427_428del" "r.(?)" "p.(Leu143Alafs*55)" "" "0000884627" "00025595" "30" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Ala311Thr)" "" "0000884628" "00025595" "30" "771" "0" "771" "0" "c.771T>C" "r.(?)" "p.(Phe257=)" "" "0000884629" "00025595" "90" "693" "0" "693" "0" "c.693C>A" "r.(?)" "p.(Tyr231*)" "" "0000884630" "00025595" "30" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(Ala119=)" "" "0000884631" "00025595" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111Gln)" "" "0000884632" "00025595" "50" "77" "0" "77" "0" "c.77G>C" "r.(?)" "p.(Cys26Ser)" "" "0000911481" "00025595" "50" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Ala152Val)" "" "0000923530" "00025595" "50" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Pro329Ser)" "" "0000923531" "00025595" "50" "758" "0" "758" "0" "c.758T>C" "r.(?)" "p.(Leu253Pro)" "" "0000974798" "00025595" "30" "665" "0" "665" "0" "c.665A>T" "r.(?)" "p.(Gln222Leu)" "" "0000974799" "00025595" "50" "431" "0" "431" "0" "c.431G>T" "r.(?)" "p.(Arg144Leu)" "" "0000992284" "00025595" "50" "987" "0" "988" "0" "c.987_988del" "r.(?)" "p.(Ile330Argfs*8)" "" "0001045789" "00025595" "50" "846" "0" "846" "0" "c.846C>A" "r.(?)" "p.(Asn282Lys)" "" "0001045790" "00025595" "50" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000233467" "0000476175" "0000233468" "0000476176" "0000233469" "0000476177" "0000233470" "0000476178" "0000233471" "0000476179" "0000233472" "0000476180" "0000233473" "0000476181" "0000233474" "0000476182" "0000234747" "0000477455" "0000293670" "0000650359" "0000305889" "0000669577" "0000387437" "0000815321" "0000391453" "0000821534" "0000411205" "0000868244" "0000411206" "0000868245" "0000411207" "0000868246"