### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYO9A) # 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}}" "MYO9A" "myosin IXA" "15" "q22-q23" "unknown" "NC_000015.9" "UD_136023113957" "" "http://www.LOVD.nl/MYO9A" "" "1" "7608" "4649" "604875" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/MYO9A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-08-28 20:18:02" "00000" "2025-11-01 13:22:20" ## 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}}" "00014184" "MYO9A" "myosin IXA" "001" "NM_006901.3" "" "NP_008832.2" "" "" "" "-491" "8217" "7647" "72410440" "72118351" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "06273" "CMS24" "Myasthenic syndrome, congenital, 24, presynaptic" "AR" "618198" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MYO9A" "06273" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00050580" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "affected, unknown family members" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00301721" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "" "" "" "" "0" "" "" "" "17-2355" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00050580" "00198" "00301721" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 06273 ## Count = 2 "{{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}}" "0000037192" "00198" "00050580" "00006" "Unknown" "" "patent ductus arteriosus, feeding difficulties in infancy, plagiocephaly, asymmetry of the ears, single transverse palmar crease, gingival overgrowth, skin dimples" "" "" "" "" "" "" "" "" "" "" "" "0000228819" "00198" "00301721" "00006" "Familial, autosomal recessive" "<0d" "fetus with no observed movements, and severe ventriculomegaly in both sides with dangling choroid plexus. The rest of the fetal scan was normal" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050525" "00050580" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000302845" "00301721" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000302845" "MYO9A" ## 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 = 41 "{{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}}" "0000079505" "0" "90" "15" "67629083" "72199082" "del" "0" "00006" "MAP2K5_000011" "g.67629083_72199082del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000342781" "0" "50" "15" "72109945" "72109945" "subst" "4.06114E-6" "02327" "NR2E3_000107" "g.72109945C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71817604C>T" "" "VUS" "" "0000555307" "0" "70" "15" "72109904" "72109904" "subst" "0" "02327" "MYO9A_000001" "g.72109904T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71817563T>G" "" "likely pathogenic" "" "0000555308" "0" "50" "15" "72109919" "72109919" "subst" "0" "02330" "MYO9A_000002" "g.72109919C>G" "" "" "" "NR2E3(NM_014249.4):c.1127C>G (p.P376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71817578C>G" "" "VUS" "" "0000555309" "0" "90" "15" "72109963" "72109964" "del" "0" "02327" "MYO9A_000003" "g.72109963_72109964del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71817622_71817623del" "" "pathogenic" "" "0000555310" "0" "50" "15" "72109978" "72109978" "subst" "7.3103E-5" "02327" "MYO9A_000004" "g.72109978G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71817637G>A" "" "VUS" "" "0000555311" "0" "50" "15" "72109990" "72109990" "subst" "4.06279E-5" "02330" "MYO9A_000005" "g.72109990A>G" "" "" "" "NR2E3(NM_014249.4):c.1198A>G (p.M400V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71817649A>G" "" "VUS" "" "0000555312" "0" "50" "15" "72170412" "72170412" "subst" "2.09707E-5" "02327" "MYO9A_000006" "g.72170412T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71878071T>C" "" "VUS" "" "0000555313" "0" "50" "15" "72172797" "72172797" "subst" "8.12843E-6" "01804" "MYO9A_000007" "g.72172797C>T" "" "" "" "MYO9A(NM_006901.3):c.5501G>A (p.(Arg1834His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71880456C>T" "" "VUS" "" "0000555314" "0" "30" "15" "72190309" "72190309" "subst" "0.00138193" "01804" "MYO9A_000008" "g.72190309A>G" "" "" "" "MYO9A(NM_006901.3):c.4535T>C (p.(Met1512Thr)), MYO9A(NM_006901.4):c.4535T>C (p.M1512T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71897968A>G" "" "likely benign" "" "0000555315" "0" "30" "15" "72292260" "72292260" "subst" "0" "01804" "MYO9A_000009" "g.72292260C>T" "" "" "" "MYO9A(NM_006901.3):c.1402G>A (p.(Glu468Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71999919C>T" "" "likely benign" "" "0000555316" "0" "30" "15" "72302776" "72302776" "subst" "0" "01804" "MYO9A_000010" "g.72302776C>T" "" "" "" "MYO9A(NM_006901.3):c.1168G>A (p.(Val390Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72010435C>T" "" "likely benign" "" "0000555317" "0" "50" "15" "72338657" "72338657" "subst" "0" "02327" "MYO9A_000011" "g.72338657A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72046316A>G" "" "VUS" "" "0000666202" "3" "70" "15" "72286860" "72286860" "subst" "4.0942E-6" "00006" "MYO9A_000013" "g.72286860G>A" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.71994519G>A" "" "likely pathogenic (recessive)" "ACMG" "0000725279" "0" "50" "15" "72110013" "72110013" "subst" "4.0821E-6" "01943" "MYO9A_000014" "g.72110013G>A" "" "" "" "NR2E3(NM_014249.3):c.1221G>A (p.M407I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725280" "0" "30" "15" "72190008" "72190008" "subst" "0.00184142" "02326" "MYO9A_000015" "g.72190008G>A" "" "" "" "MYO9A(NM_006901.4):c.4836C>T (p.C1612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725281" "0" "50" "15" "72192242" "72192242" "subst" "0.000646825" "02327" "MYO9A_000016" "g.72192242G>A" "" "" "" "MYO9A(NM_006901.4):c.3256C>T (p.(Arg1086Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725282" "0" "50" "15" "72283487" "72283487" "subst" "8.3275E-6" "02327" "MYO9A_000017" "g.72283487C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806891" "0" "30" "15" "72109968" "72109968" "subst" "4.06111E-6" "02330" "MYO9A_000018" "g.72109968C>T" "" "" "" "NR2E3(NM_014249.4):c.1176C>T (p.R392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806892" "0" "50" "15" "72190048" "72190048" "subst" "0" "01943" "MYO9A_000019" "g.72190048C>G" "" "" "" "MYO9A(NM_006901.4):c.4796G>C (p.R1599P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806893" "0" "30" "15" "72227669" "72227669" "subst" "8.34864E-6" "02326" "MYO9A_000020" "g.72227669G>T" "" "" "" "MYO9A(NM_006901.4):c.2522+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892227" "0" "30" "15" "72190309" "72190309" "subst" "0.00138193" "02326" "MYO9A_000008" "g.72190309A>G" "" "" "" "MYO9A(NM_006901.3):c.4535T>C (p.(Met1512Thr)), MYO9A(NM_006901.4):c.4535T>C (p.M1512T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892228" "0" "50" "15" "72190892" "72190892" "subst" "0" "01804" "MYO9A_000021" "g.72190892G>A" "" "" "" "MYO9A(NM_006901.3):c.3952C>T (p.(Pro1318Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914349" "0" "30" "15" "72252443" "72252443" "subst" "0.000921263" "01804" "MYO9A_000022" "g.72252443T>C" "" "" "" "MYO9A(NM_006901.3):c.1987-6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926024" "0" "30" "15" "72144522" "72144522" "subst" "0.00319577" "01804" "MYO9A_000023" "g.72144522G>C" "" "" "" "MYO9A(NM_006901.3):c.6426C>G (p.(Pro2142=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967917" "0" "50" "15" "72208707" "72208707" "subst" "4.2327E-6" "02329" "MYO9A_000024" "g.72208707T>C" "" "" "" "MYO9A(NM_006901.4):c.2685+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981387" "0" "10" "15" "72172883" "72172883" "subst" "0.0384734" "01804" "MYO9A_000025" "g.72172883G>C" "" "" "" "MYO9A(NM_006901.4):c.5415C>G (p.(His1805Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981388" "0" "10" "15" "72189952" "72189952" "subst" "0.0169639" "01804" "MYO9A_000026" "g.72189952T>A" "" "" "" "MYO9A(NM_006901.4):c.4892A>T (p.(Asn1631Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040534" "0" "30" "15" "72170400" "72170400" "subst" "0.0223308" "01804" "MYO9A_000027" "g.72170400G>A" "" "" "" "MYO9A(NM_006901.4):c.5912C>T (p.(Ser1971Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040535" "0" "30" "15" "72172798" "72172798" "subst" "0.0206999" "01804" "MYO9A_000028" "g.72172798G>A" "" "" "" "MYO9A(NM_006901.4):c.5500C>T (p.(Arg1834Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040536" "0" "30" "15" "72180440" "72180440" "subst" "0.0180965" "01804" "MYO9A_000029" "g.72180440C>T" "" "" "" "MYO9A(NM_006901.4):c.5160G>A (p.(Ser1720=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040537" "0" "50" "15" "72186120" "72186120" "subst" "0.000419915" "01804" "MYO9A_000030" "g.72186120C>T" "" "" "" "MYO9A(NM_006901.4):c.5043-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040538" "0" "30" "15" "72190760" "72190760" "subst" "0.0259154" "01804" "MYO9A_000031" "g.72190760A>G" "" "" "" "MYO9A(NM_006901.4):c.4084T>C (p.(Ser1362Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040539" "0" "30" "15" "72191104" "72191104" "subst" "0.00122768" "01804" "MYO9A_000032" "g.72191104T>C" "" "" "" "MYO9A(NM_006901.4):c.3740A>G (p.(Gln1247Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040540" "0" "50" "15" "72193666" "72193666" "subst" "0" "01804" "MYO9A_000033" "g.72193666G>A" "" "" "" "MYO9A(NM_006901.4):c.3016C>T (p.(Gln1006*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040541" "0" "10" "15" "72260322" "72260322" "subst" "0.00531577" "01804" "MYO9A_000034" "g.72260322G>T" "" "" "" "MYO9A(NM_006901.4):c.1986+3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001055179" "0" "50" "15" "72146865" "72146865" "subst" "4.11221E-5" "01804" "MYO9A_000035" "g.72146865G>A" "" "" "" "MYO9A(NM_006901.4):c.6199C>T (p.(Arg2067Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055180" "0" "50" "15" "72190889" "72190889" "subst" "0.00013054" "01804" "MYO9A_000036" "g.72190889G>A" "" "" "" "MYO9A(NM_006901.4):c.3955C>T (p.(Arg1319Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055181" "0" "50" "15" "72192242" "72192242" "subst" "0.000646825" "01804" "MYO9A_000016" "g.72192242G>A" "" "" "" "MYO9A(NM_006901.4):c.3256C>T (p.(Arg1086Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055182" "0" "50" "15" "72196360" "72196360" "subst" "0.000166893" "01804" "MYO9A_000037" "g.72196360A>T" "" "" "" "MYO9A(NM_006901.4):c.2787T>A (p.(Asp929Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055183" "0" "50" "15" "72302697" "72302697" "subst" "2.03204E-5" "01804" "MYO9A_000038" "g.72302697C>T" "" "" "" "MYO9A(NM_006901.4):c.1247G>A (p.(Arg416Gln))" "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 MYO9A ## Count = 41 "{{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}}" "0000079505" "00014184" "00" "2686" "-1735" "4497485" "0" "c.2686-1735_*4489838del" "r.(?)" "p.(Ala896*)" "" "0000342781" "00014184" "50" "16623" "0" "16623" "0" "c.*8976G>A" "r.(=)" "p.(=)" "" "0000555307" "00014184" "70" "16664" "0" "16664" "0" "c.*9017A>C" "r.(=)" "p.(=)" "" "0000555308" "00014184" "50" "16649" "0" "16649" "0" "c.*9002G>C" "r.(=)" "p.(=)" "" "0000555309" "00014184" "90" "16607" "0" "16608" "0" "c.*8960_*8961del" "r.(=)" "p.(=)" "" "0000555310" "00014184" "50" "16590" "0" "16590" "0" "c.*8943C>T" "r.(=)" "p.(=)" "" "0000555311" "00014184" "50" "16578" "0" "16578" "0" "c.*8931T>C" "r.(=)" "p.(=)" "" "0000555312" "00014184" "50" "5900" "0" "5900" "0" "c.5900A>G" "r.(?)" "p.(Glu1967Gly)" "" "0000555313" "00014184" "50" "5501" "0" "5501" "0" "c.5501G>A" "r.(?)" "p.(Arg1834His)" "" "0000555314" "00014184" "30" "4535" "0" "4535" "0" "c.4535T>C" "r.(?)" "p.(Met1512Thr)" "" "0000555315" "00014184" "30" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Glu468Lys)" "" "0000555316" "00014184" "30" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Val390Met)" "" "0000555317" "00014184" "50" "248" "0" "248" "0" "c.248T>C" "r.(?)" "p.(Val83Ala)" "" "0000666202" "00014184" "70" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513*)" "" "0000725279" "00014184" "50" "16555" "0" "16555" "0" "c.*8908C>T" "r.(=)" "p.(=)" "" "0000725280" "00014184" "30" "4836" "0" "4836" "0" "c.4836C>T" "r.(?)" "p.(Cys1612=)" "" "0000725281" "00014184" "50" "3256" "0" "3256" "0" "c.3256C>T" "r.(?)" "p.(Arg1086Cys)" "" "0000725282" "00014184" "50" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Arg560His)" "" "0000806891" "00014184" "30" "16600" "0" "16600" "0" "c.*8953G>A" "r.(=)" "p.(=)" "" "0000806892" "00014184" "50" "4796" "0" "4796" "0" "c.4796G>C" "r.(?)" "p.(Arg1599Pro)" "" "0000806893" "00014184" "30" "2522" "13" "2522" "13" "c.2522+13C>A" "r.(=)" "p.(=)" "" "0000892227" "00014184" "30" "4535" "0" "4535" "0" "c.4535T>C" "r.(?)" "p.(Met1512Thr)" "" "0000892228" "00014184" "50" "3952" "0" "3952" "0" "c.3952C>T" "r.(?)" "p.(Pro1318Ser)" "" "0000914349" "00014184" "30" "1987" "-6" "1987" "-6" "c.1987-6A>G" "r.(=)" "p.(=)" "" "0000926024" "00014184" "30" "6426" "0" "6426" "0" "c.6426C>G" "r.(?)" "p.(Pro2142=)" "" "0000967917" "00014184" "50" "2685" "4" "2685" "4" "c.2685+4A>G" "r.spl?" "p.?" "" "0000981387" "00014184" "10" "5415" "0" "5415" "0" "c.5415C>G" "r.(?)" "p.(His1805Gln)" "" "0000981388" "00014184" "10" "4892" "0" "4892" "0" "c.4892A>T" "r.(?)" "p.(Asn1631Ile)" "" "0001040534" "00014184" "30" "5912" "0" "5912" "0" "c.5912C>T" "r.(?)" "p.(Ser1971Leu)" "" "0001040535" "00014184" "30" "5500" "0" "5500" "0" "c.5500C>T" "r.(?)" "p.(Arg1834Cys)" "" "0001040536" "00014184" "30" "5160" "0" "5160" "0" "c.5160G>A" "r.(?)" "p.(=)" "" "0001040537" "00014184" "50" "5043" "-1" "5043" "-1" "c.5043-1G>A" "r.spl?" "p.?" "" "0001040538" "00014184" "30" "4084" "0" "4084" "0" "c.4084T>C" "r.(?)" "p.(Ser1362Pro)" "" "0001040539" "00014184" "30" "3740" "0" "3740" "0" "c.3740A>G" "r.(?)" "p.(Gln1247Arg)" "" "0001040540" "00014184" "50" "3016" "0" "3016" "0" "c.3016C>T" "r.(?)" "p.(Gln1006*)" "" "0001040541" "00014184" "10" "1986" "3" "1986" "3" "c.1986+3C>A" "r.spl?" "p.?" "" "0001055179" "00014184" "50" "6199" "0" "6199" "0" "c.6199C>T" "r.(?)" "p.(Arg2067Cys)" "" "0001055180" "00014184" "50" "3955" "0" "3955" "0" "c.3955C>T" "r.(?)" "p.(Arg1319Trp)" "" "0001055181" "00014184" "50" "3256" "0" "3256" "0" "c.3256C>T" "r.(?)" "p.(Arg1086Cys)" "" "0001055182" "00014184" "50" "2787" "0" "2787" "0" "c.2787T>A" "r.(?)" "p.(Asp929Glu)" "" "0001055183" "00014184" "50" "1247" "0" "1247" "0" "c.1247G>A" "r.(?)" "p.(Arg416Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000050525" "0000079505" "0000302845" "0000666202"