### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = M1AP) # 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}}" "M1AP" "meiosis 1 associated protein" "2" "p13.1" "unknown" "NC_000002.11" "UD_145628694814" "" "https://www.LOVD.nl/M1AP" "" "1" "25183" "130951" "" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2020-07-28 17:24:14" "00000" "2025-02-07 18:57:27" ## 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}}" "00024854" "M1AP" "transcript variant 1" "002" "NM_138804.4" "" "NP_620159.2" "" "" "" "-117" "2426" "1593" "74875164" "74785010" "00000" "2017-08-08 15:35:56" "" "" ## 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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "06931" "SPGF48" "spermatogenic failure, type 48" "AR" "619108" "" "" "" "00006" "2022-04-14 21:14:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "M1AP" "00201" "M1AP" "06931" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00307039" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "M" "" "Germany" "" "0" "" "" "" "PatM330" "00307040" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "M" "" "Germany" "" "0" "" "" "" "PatM864" "00307041" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "M" "" "Germany" "" "0" "" "" "" "PatM1792" "00307042" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" "PatM1943" "00307043" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "M" "" "Poland" "" "0" "" "" "" "PatM2062" "00307044" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "M" "" "Portugal" "" "0" "" "" "" "PatY126" "00307045" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "M" "" "Portugal" "" "0" "" "" "" "PatP86" "00307046" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "M" "" "Netherlands" "" "0" "" "" "" "PatRU01691" "00307047" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatMI-0006-P" "00307048" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "M" "" "Turkey" "" "0" "" "" "" "PatT1024" "00307049" "" "" "" "1" "" "00006" "{PMID:Tu 2020:32017041}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "China" "" "0" "" "" "Han Chinese" "Fam1PatII116" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00307039" "00201" "00307040" "00201" "00307041" "00201" "00307042" "00201" "00307043" "00201" "00307044" "00201" "00307045" "00201" "00307046" "00201" "00307047" "00201" "00307048" "00201" "00307049" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 06931 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000232864" "00201" "00307039" "00006" "Familial, autosomal recessive" "38y" "follicle-stimulating hormone 9 (IU/L), luteinizing hormone 5.3 (IU/L), testosterone 14.6 (nmol/L), testicular volume right/left 17/23; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 91/99% spermatocytes, 6/1% spermatogonia, 3/0% Sertoli cell-only, 0/0% tubular shadows), testicular biopsy and sperm extraction negative" "" "" "" "" "" "" "" "" "male infertility" "0000232865" "00201" "00307040" "00006" "Familial, autosomal recessive" "41y" "follicle-stimulating hormone 4.7 (IU/L), luteinizing hormone 1.5 (IU/L), testosterone 9.6 (nmol/L), testicular volume right/left 19/26; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 71/91% spermatocytes, 10/4% spermatogonia, 17/1% Sertoli cell-only, 2/4% tubular shadows), testicular biopsy and sperm extraction negative" "" "" "" "" "" "" "" "" "male infertility" "0000232866" "00201" "00307041" "00006" "Familial, autosomal recessive" "36y" "follicle-stimulating hormone 7.8 (IU/L), luteinizing hormone 5.1 (IU/L), testosterone 10.1 (nmol/L), testicular volume right/left 15/15; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 96/97% spermatocytes, 0/2% spermatogonia, 3/1% Sertoli cell-only, 1/0% tubular shadows), testicular biopsy and sperm extraction negative" "" "" "" "" "" "" "" "" "male infertility" "0000232867" "00201" "00307042" "00006" "Familial, autosomal recessive" "43y" "follicle-stimulating hormone 5.5 (IU/L), luteinizing hormone 3.2 (IU/L), testosterone 43.6 (nmol/L), testicular volume right/left 28/20; cryptozoospermia or azoospermiaa;" "" "" "" "" "" "" "" "" "male infertility" "0000232868" "00201" "00307043" "00006" "Familial, autosomal recessive" "26y" "follicle-stimulating hormone 3.5 (IU/L), luteinizing hormone 3.6 (IU/L), testosterone 18.6 (nmol/L), testicular volume right/left 26/23; cryptozoospermia or azoospermiaa;" "" "" "" "" "" "" "" "" "male infertility" "0000232869" "00201" "00307044" "00006" "Familial, autosomal recessive" "34y" "follicle-stimulating hormone 6.7 (IU/L), luteinizing hormone 3.2 (IU/L), testosterone N/A (nmol/L); azoospermia; maturation arrest at round spermatid stage, (quantification N/A), testicular biopsy and sperm extraction negative" "" "" "" "" "" "" "" "" "male infertility" "0000232870" "00201" "00307045" "00006" "Familial, autosomal recessive" "44y" "follicle-stimulating hormone N/A (IU/L); azoospermia; dispersed Sertoli cells, some tubules contained only spermatogonia, testicular biopsy and sperm extraction negative" "" "" "" "" "" "" "" "" "male infertility" "0000232871" "00201" "00307046" "00006" "Familial, autosomal recessive" "41y" "follicle-stimulating hormone 5 (IU/L), luteinizing hormone 2.0 (IU/L), testosterone 11.3 (nmol/L); azoospermia; predominant meiotic arrest with occasional spermatids, (unilateral testicular biopsy and sperm extraction: 4% tubules with elongating spermatids, 5% round spermatids, 88% spermatocytes, 2% spermatogonia, 0% Sertoli cell-only, 0% tubular shadows), testicular biopsy and sperm extraction positive" "" "" "" "" "" "" "" "" "male infertility" "0000232872" "00201" "00307047" "00006" "Familial, autosomal recessive" "33y" "follicle-stimulating hormone 10.4 (IU/L),, testosterone 15.4 (nmol/L), testicular volume right/left 20/20; azoospermia; predominant meiotic arrest with occasional postmeiotic germ cells (quantification N/A), testicular biopsy and sperm extraction negative" "" "" "" "" "" "" "" "" "male infertility" "0000232873" "00201" "00307048" "00006" "Familial, autosomal recessive" "28y" "follicle-stimulating hormone 8.3 (IU/L), luteinizing hormone 4.4 (IU/L), testosterone 8.8 (nmol/L), testicular volume right/left 15/15; azoospermia; maturation arrest at round spermatid stage, (quantification N/A), testicular biopsy and sperm extraction negative" "" "" "" "" "" "" "" "" "male infertility" "0000232874" "00201" "00307049" "00006" "Familial, autosomal recessive" "34y" "follicle-stimulating hormone 3.65 (IU/L), luteinizing hormone 3.17 (IU/L), testosterone 18.24 (nmol/L), testicular volume right/left 12/12; severe oligozoospermia" "" "" "" "" "" "" "" "CMT2Z" "male infertility" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000308180" "00307039" "1" "00006" "00006" "2020-07-28 18:37:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308181" "00307040" "1" "00006" "00006" "2020-07-28 18:37:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308182" "00307041" "1" "00006" "00006" "2020-07-28 18:37:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308183" "00307042" "1" "00006" "00006" "2020-07-28 18:37:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308184" "00307043" "1" "00006" "00006" "2020-07-28 18:37:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308185" "00307044" "1" "00006" "00006" "2020-07-28 18:37:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308186" "00307045" "1" "00006" "00006" "2020-07-28 18:37:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308187" "00307046" "1" "00006" "00006" "2020-07-28 18:37:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308188" "00307047" "1" "00006" "00006" "2020-07-28 18:37:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308189" "00307048" "1" "00006" "00006" "2020-07-28 18:37:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308190" "00307049" "1" "00006" "00006" "2020-07-28 18:37:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000308180" "M1AP" "0000308181" "M1AP" "0000308182" "M1AP" "0000308183" "M1AP" "0000308184" "M1AP" "0000308185" "M1AP" "0000308186" "M1AP" "0000308187" "M1AP" "0000308188" "M1AP" "0000308189" "M1AP" "0000308190" "M1AP" ## 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 = 16 "{{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}}" "0000675028" "3" "90" "2" "74808894" "74808894" "dup" "0" "00006" "M1AP_000006" "g.74808894dup" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74581767dup" "" "pathogenic (recessive)" "" "0000675029" "3" "90" "2" "74808894" "74808894" "dup" "0" "00006" "M1AP_000006" "g.74808894dup" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74581767dup" "" "pathogenic (recessive)" "" "0000675030" "3" "90" "2" "74808894" "74808894" "dup" "0" "00006" "M1AP_000006" "g.74808894dup" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74581767dup" "" "pathogenic (recessive)" "" "0000675031" "1" "90" "2" "74808894" "74808894" "dup" "0" "00006" "M1AP_000006" "g.74808894dup" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74581767dup" "" "pathogenic (dominant)" "" "0000675032" "3" "90" "2" "74808894" "74808894" "dup" "0" "00006" "M1AP_000006" "g.74808894dup" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74581767dup" "" "pathogenic (dominant)" "" "0000675033" "1" "90" "2" "74808894" "74808894" "dup" "0" "00006" "M1AP_000006" "g.74808894dup" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74581767dup" "" "pathogenic (dominant)" "" "0000675034" "1" "90" "2" "74867255" "74867255" "subst" "0" "00006" "M1AP_000007" "g.74867255A>G" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74640128A>G" "" "pathogenic (dominant)" "" "0000675035" "3" "90" "2" "74808894" "74808894" "dup" "0" "00006" "M1AP_000006" "g.74808894dup" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74581767dup" "" "pathogenic (recessive)" "" "0000675036" "3" "90" "2" "74808894" "74808894" "dup" "0" "00006" "M1AP_000006" "g.74808894dup" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74581767dup" "" "pathogenic (recessive)" "" "0000675037" "3" "90" "2" "74789459" "74789459" "subst" "1.21857E-5" "00006" "M1AP_000005" "g.74789459G>A" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74562332G>A" "" "pathogenic (recessive)" "" "0000675038" "3" "90" "2" "74786002" "74786002" "subst" "0" "00006" "M1AP_000004" "g.74786002C>T" "" "{PMID:Tu 2020:32017041}" "" "" "" "Germline" "" "" "0" "" "" "g.74558875C>T" "" "pathogenic (dominant)" "" "0000675039" "2" "90" "2" "74803718" "74803718" "subst" "0.000223559" "00006" "M1AP_000001" "g.74803718C>T" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74576591C>T" "" "pathogenic (recessive)" "" "0000675040" "2" "90" "2" "74802690" "74802690" "subst" "8.13782E-5" "00006" "M1AP_000002" "g.74802690C>T" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74575563C>T" "" "pathogenic (recessive)" "" "0000675041" "2" "90" "2" "74787411" "74787411" "subst" "8.60548E-6" "00006" "M1AP_000003" "g.74787411A>G" "" "{PMID:Wyrwoll 2020:32673564}, {DOI:Wyrwoll 2020:10.1016/j.ajhg.2020.06.010}" "" "" "" "Germline" "" "" "0" "" "" "g.74560284A>G" "" "pathogenic (recessive)" "" "0000885412" "0" "90" "2" "74808894" "74808894" "dup" "0" "02327" "M1AP_000006" "g.74808894dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024679" "0" "30" "2" "74802711" "74802711" "del" "0" "02325" "M1AP_000008" "g.74802711del" "" "" "" "M1AP(NM_138804.5):c.933-4delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes M1AP ## Count = 16 "{{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}}" "0000675028" "00024854" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Trp226Leufs*4)" "" "0000675029" "00024854" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Trp226Leufs*4)" "" "0000675030" "00024854" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Trp226Leufs*4)" "" "0000675031" "00024854" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Trp226Leufs*4)" "" "0000675032" "00024854" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Trp226Leufs*4)" "" "0000675033" "00024854" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Trp226Leufs*4)" "" "0000675034" "00024854" "90" "148" "0" "148" "0" "c.148T>C" "r.(?)" "p.(Ser50Pro)" "" "0000675035" "00024854" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Trp226Leufs*4)" "" "0000675036" "00024854" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Trp226Leufs*4)" "" "0000675037" "00024854" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Pro389Leu)]" "" "0000675038" "00024854" "90" "1435" "-1" "1435" "-1" "c.1435-1G>A" "r.spl" "p.?" "" "0000675039" "00024854" "90" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Arg266Gln)" "" "0000675040" "00024854" "90" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Gly317Arg)" "" "0000675041" "00024854" "90" "1289" "0" "1289" "0" "c.1289T>C" "r.(?)" "p.(Leu430Pro)" "" "0000885412" "00024854" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Trp226Leufs*4)" "" "0001024679" "00024854" "30" "933" "-4" "933" "-4" "c.933-4del" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000308180" "0000675028" "0000308181" "0000675029" "0000308182" "0000675030" "0000308183" "0000675031" "0000308183" "0000675039" "0000308184" "0000675032" "0000308185" "0000675033" "0000308185" "0000675040" "0000308186" "0000675034" "0000308186" "0000675041" "0000308187" "0000675035" "0000308188" "0000675036" "0000308189" "0000675037" "0000308190" "0000675038"