### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MN1) # 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}}" "MN1" "meningioma (disrupted in balanced translocation) 1" "22" "q12.1" "unknown" "NG_023258.1" "UD_132118424157" "" "https://www.LOVD.nl/MN1" "" "1" "7180" "4330" "156100" "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/MN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-26 15:18:47" "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}}" "00013738" "MN1" "meningioma (disrupted in balanced translocation) 1" "001" "NM_002430.2" "" "NP_002421.3" "" "" "" "-955" "6601" "3963" "28197486" "28144265" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02638" "meningioma" "meningioma, familial, susceptibility to" "AD" "607174" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-26 15:18:15" "05107" "MN" "blood group system, MN locus (MN)" "" "111300" "" "" "" "00006" "2015-12-17 06:37:01" "00006" "2020-06-26 11:11:40" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05883" "CEBALID" "CEBALID syndrome (CEBALID)" "AD" "618774" "" "" "" "00006" "2020-12-04 11:38:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MN1" "02638" "MN1" "05883" ## Individuals ## Do not remove or alter this header ## ## Count = 39 "{{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}}" "00274237" "" "" "" "1" "" "00006" "{PMID:Miyake 2020:31839203}, {DOI:Miyake:10.1016/j.ajhg.2019.11.011}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam1Pat" "00274238" "" "" "" "1" "" "00006" "{PMID:Miyake 2020:31839203}, {DOI:Miyake:10.1016/j.ajhg.2019.11.011}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Japan" "" "0" "" "" "" "Fam2Pat" "00274239" "" "" "" "1" "" "00006" "{PMID:Miyake 2020:31839203}, {DOI:Miyake:10.1016/j.ajhg.2019.11.011}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Japan" "" "0" "" "" "" "Fam3Pat" "00274248" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "Iran;Morocco" "" "0" "" "" "Jewish-Ashkenazi" "Pat1" "00274249" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "F" "" "" "" "0" "" "" "Eurasian" "Pat2" "00274250" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "F" "" "" "" "0" "" "" "" "Pat3" "00274251" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "" "" "0" "" "" "white" "Pat4" "00274252" "" "" "" "3" "" "00006" "{PMID:Mak 2020:31834374}" "3-generation family, affected father/2 sons" "F" "" "Jordan" "" "0" "" "" "" "Pat5" "00274253" "" "" "00274252" "1" "" "00006" "{PMID:Mak 2020:31834374}" "brother Pat5" "M" "" "Jordan" "" "0" "" "" "" "Pat6" "00274254" "" "" "00274252" "1" "" "00006" "{PMID:Mak 2020:31834374}" "father Pat5/6" "M" "" "Jordan" "" "0" "" "" "" "Pat7" "00274255" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "F" "" "" "" "0" "" "" "Middle Eastern" "Pat8" "00274256" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "" "" "0" "" "" "East Asian" "Pat9" "00274257" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "F" "" "China" "" "0" "" "" "Han" "Pat10" "00274258" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "" "" "0" "" "" "Europe" "Pat11" "00274259" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "Netherlands;Norway" "" "0" "" "" "" "Pat12" "00274260" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}, {PMID:Rossi 2017:28330790}" "" "M" "" "Germany;Poland;India" "" "0" "" "" "Asian, East Indian" "Pat13" "00274261" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "Belgium;Germany;United Kingdom (Great Britain)" "" "0" "" "" "" "Pat14" "00274262" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "" "" "0" "" "" "white" "Pat15" "00274263" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}, {PMID:DDDS 2017:28135719}" "" "F" "" "" "" "0" "" "" "white" "Pat16/DDD4K.03983" "00274264" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "United States" "" "0" "" "" "white;Hispanic" "Pat17" "00274265" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "F" "" "" "" "0" "" "" "Hispanic" "Pat18" "00274266" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}, {PMID:DDDS 2017:28135719}" "" "M" "" "" "" "0" "" "" "white" "Pat19/DDD4K.04150" "00274267" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "F" "" "" "" "0" "" "" "white" "Pat20" "00274268" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}, {PMID:Tully 201:22965664}" "" "F" "" "" "" "0" "" "" "white" "Pat21/Pat7" "00274269" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "" "" "0" "" "" "white" "Pat22" "00274270" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "Pat23" "00274271" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "" "" "0" "" "" "white" "Pat24" "00274272" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "" "" "0" "" "" "white;white/Puerto Rico" "Pat25" "00274273" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "M" "" "Netherlands;Turkey" "" "0" "" "" "" "Pat26/DECIPHER 318239" "00274274" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}" "" "F" "" "Germany" "" "0" "" "" "" "Pat27" "00274275" "" "" "" "1" "" "00006" "{PMID:Mak 2020:31834374}, {PMID:Friedman 2006:16909388}, {PMID:Friedman 2009:19917086}" "" "M" "" "" "" "0" "" "" "South Asian, Muslim" "Pat28/Ind7807/DECIPHER 999" "00274353" "" "" "00274350" "1" "" "00006" "{PMID:Johansen 2016:27616480}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam6PatIII9" "00299431" "" "" "" "1" "" "01759" "" "" "F" "no" "Spain" "" "0" "" "" "" "" "00303078" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat120" "00324140" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "172931" "00380223" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "183091" "00391502" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "184511" "00444503" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "M" "" "France" "" "0" "" "" "" "Pat5" "00466175" "" "" "" "1" "" "03820" "" "" "F" "" "Brazil" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 39 "{{individualid}}" "{{diseaseid}}" "00274237" "00198" "00274238" "00198" "00274239" "00198" "00274248" "00198" "00274249" "00198" "00274250" "00198" "00274251" "00198" "00274252" "00198" "00274253" "00198" "00274254" "00198" "00274255" "00198" "00274256" "00198" "00274257" "00198" "00274258" "00198" "00274259" "00198" "00274260" "00198" "00274261" "00198" "00274262" "00198" "00274263" "00198" "00274264" "00198" "00274265" "00198" "00274266" "00198" "00274267" "00198" "00274268" "00198" "00274269" "00198" "00274270" "00198" "00274271" "00198" "00274272" "00198" "00274273" "00198" "00274274" "00198" "00274275" "00198" "00274353" "00198" "00299431" "05107" "00303078" "05521" "00324140" "05611" "00380223" "05883" "00391502" "05883" "00444503" "05611" "00466175" "05883" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02638, 05107, 05521, 05611, 05883 ## Count = 39 "{{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}}" "0000209182" "00198" "00274237" "00006" "Isolated (sporadic)" "06y03m" "height 102.5 cm (-2 SD); weight 15.1 kg (-1.8 SD); OFC 50.7 cm (-0.2 SD); severe developmental delay; speech impairment; febrile convulsions; dolichocephaly; characteristic face; prominent forehead; flat face; thick eyebrow; high, arched eyebrow; widely spaced eyes; posteriorly rotated ears; low-set ears; depressed nasal bridge; depressed nasal ridge; short nose; anteverted nares; no cleft palate (narrow palate); no hypotonia; feeding difficulty; hyperphagia; MRI brain normal (6y4m)" "" "" "" "" "" "" "" "" "CEBALID" "severe developmental delay" "" "0000209183" "00198" "00274238" "00006" "Isolated (sporadic)" "04y08m" "height 100 cm (-1 SD); weight 15.7 kg (mean); OFC 54 cm (+ SD); severe developmental delay; speech impairment; no epilepsy; dolichocephaly; characteristic face; prominent forehead; flat face; thick eyebrow; no high, arched eyebrow; widely spaced eyes; no posteriorly rotated ears; low-set ears; no depressed nasal bridge; depressed nasal ridge; short nose; anteverted nares; no cleft palate; hypotonia; feeding difficulty; hyperphagia; MRI brain polymicrogyria, vermis dysplasia" "" "" "" "" "" "" "" "" "CEBALID" "severe developmental delay" "" "0000209184" "00198" "00274239" "00006" "Isolated (sporadic)" "18y10m" "height 151.2 cm (-1.3 SD); weight 50.4 kg (-0.3 SD); OFC 56.0 cm; severe developmental delay; speech impairment; no epilepsy; platystencephaly; characteristic face; no prominent forehead; flat face; thick eyebrow; high, arched eyebrow; widely spaced eyes; posteriorly rotated ears; low-set ears; depressed nasal bridge; depressed nasal ridge; short nose; anteverted nares; no cleft palate (high arched palate); hypotonia; no feeding difficulty; hyperphagia; MRI brain polymicrogyria" "" "" "" "" "" "" "" "" "CEBALID" "severe developmental delay" "" "0000209191" "00198" "00274248" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe developmental delay" "" "0000209192" "00198" "00274249" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209193" "00198" "00274250" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209194" "00198" "00274251" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209195" "00198" "00274252" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209196" "00198" "00274253" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209197" "00198" "00274254" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209198" "00198" "00274255" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209199" "00198" "00274256" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209200" "00198" "00274257" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209201" "00198" "00274258" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209202" "00198" "00274259" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209203" "00198" "00274260" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209204" "00198" "00274261" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209205" "00198" "00274262" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209206" "00198" "00274263" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209207" "00198" "00274264" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209208" "00198" "00274265" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209209" "00198" "00274266" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209210" "00198" "00274267" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209211" "00198" "00274268" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209212" "00198" "00274269" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209213" "00198" "00274270" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209214" "00198" "00274271" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209215" "00198" "00274272" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209216" "00198" "00274273" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209217" "00198" "00274274" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209218" "00198" "00274275" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000209296" "00198" "00274353" "00006" "Familial, autosomal recessive" "" "head control-1y, sit-5y, walk-7y; no speech; no seizures; head circumference -2SD; hypotonia infancy; hypertonia; intellectual disability; MRI brain normal" "" "" "" "" "" "" "" "" "MRT57" "intellectual disability" "" "0000226741" "05107" "00299431" "01759" "Isolated (sporadic)" "" "Neurodevelopmental disorders with craniofacial anomalies" "" "01y" "" "" "" "" "" "" "MN1 C-terminal truncation syndrome" "Toriello-Carey" "" "0000230161" "05521" "00303078" "00006" "Isolated (sporadic)" "" "Generalized epilepsy, unclassified; age onset unknown" "" "" "" "" "" "" "" "" "" "seizures" "" "0000274075" "05883" "00380223" "01164" "Isolated (sporadic)" "03y" "Abnormality of the head, Microcephaly, Abnormality of the face, Abnormality of the outer ear, Behavioral abnormality, Global developmental delay, Sleep disturbance, Aplasia/Hypoplasia of the cerebrum, Neurodevelopmental delay, Abnormal ear morphology, Decreased head circumference" "" "" "" "" "" "" "" "" "" "" "" "0000284838" "05883" "00391502" "01164" "Isolated (sporadic)" "00y06m" "Muscular hypotonia, Global developmental delay, Motor delay, Abnormality of the nasal bridge, Wide nasal bridge, Prominent forehead, Abnormal eyelid morphology, Low-set ears, Thin upper lip vermilion, Edema, Edema of the dorsum of hands, Anteverted nares, Abnormality of earlobe" "" "" "" "" "" "" "" "" "" "" "" "0000289282" "05611" "00324140" "01164" "Unknown" "00y07m" "(+) Low-set ears,(+) Delayed speech and language development,(+) Seizure,(+) Abnormal facial shape" "" "" "" "" "" "" "" "" "CEBALID" "" "" "0000333756" "05611" "00444503" "00006" "Familial, autosomal dominant" "10y-20y" "Postnatal growth delay (-2.5 SD), microcephaly (-3 SD), global developmental delay, facial dysmorphism, cryptorchidism, inguinal hernia, laryngomalacia, Turricephaly, unilateral pachygyria, patent sagittal suture" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "" "0000351562" "05883" "00466175" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Epilepsy, Intellectual disability, Hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 39 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000275396" "00274237" "1" "00006" "00006" "2019-12-26 15:26:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275397" "00274238" "1" "00006" "00006" "2019-12-26 15:26:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275398" "00274239" "1" "00006" "00006" "2019-12-26 15:26:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275404" "00274248" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES quartet" "0000275405" "00274249" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000275406" "00274250" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275407" "00274251" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275408" "00274252" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES quartet" "0000275409" "00274253" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES quartet" "0000275410" "00274254" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES quartet" "0000275411" "00274255" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275412" "00274256" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275413" "00274257" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000275414" "00274258" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275415" "00274259" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275416" "00274260" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275417" "00274261" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275418" "00274262" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275419" "00274263" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275420" "00274264" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275421" "00274265" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275422" "00274266" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275423" "00274267" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275424" "00274268" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio" "0000275425" "00274269" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275426" "00274270" "1" "00006" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275427" "00274271" "1" "03384" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275428" "00274272" "1" "03384" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio, Autism/ID panel" "0000275429" "00274273" "1" "03384" "00006" "2019-12-27 16:43:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000275430" "00274274" "1" "03384" "00006" "2019-12-27 16:43:23" "" "" "arrayCGH;PCRq" "DNA" "" "CMA" "0000275431" "00274275" "1" "03384" "00006" "2019-12-27 16:43:23" "" "" "arraySNP;FISH" "DNA" "" "CMA (Affymetrix 100K)" "0000275513" "00274353" "1" "00006" "00006" "2019-12-29 15:57:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000300541" "00299431" "1" "01759" "01759" "2020-04-15 11:09:33" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000304203" "00303078" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000325330" "00324140" "1" "01164" "01164" "2020-12-02 17:13:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000381425" "00380223" "1" "01164" "01164" "2021-08-12 15:54:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000392744" "00391502" "1" "01164" "01164" "2021-11-17 11:51:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000446071" "00444503" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "SEQ-NG" "DNA" "" "WES, WGS trio" "0000467833" "00466175" "1" "03820" "03820" "2025-08-06 14:53:43" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{geneid}}" "0000275396" "MN1" "0000275397" "MN1" "0000275398" "MN1" "0000275404" "MN1" "0000275405" "MN1" "0000275406" "MN1" "0000275407" "MN1" "0000275408" "MN1" "0000275409" "MN1" "0000275410" "MN1" "0000275411" "MN1" "0000275412" "MN1" "0000275413" "MN1" "0000275414" "MN1" "0000275415" "MN1" "0000275416" "MN1" "0000275417" "MN1" "0000275418" "MN1" "0000275419" "MN1" "0000275420" "MN1" "0000275421" "MN1" "0000275422" "MN1" "0000275423" "MN1" "0000275424" "MN1" "0000275425" "MN1" "0000275426" "MN1" "0000275427" "MN1" "0000275428" "MN1" "0000275429" "MN1" "0000275430" "MN1" "0000275431" "MN1" "0000275513" "MBOAT7" "0000300541" "MN1" "0000304203" "MN1" "0000325330" "MN1" "0000381425" "MN1" "0000392744" "MN1" ## 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 = 88 "{{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}}" "0000248731" "0" "10" "22" "28194183" "28194183" "subst" "0" "02325" "MN1_000002" "g.28194183A>C" "" "" "" "MN1(NM_002430.3):c.2349T>G (p.G783=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27798195A>C" "" "benign" "" "0000291919" "0" "30" "22" "28194927" "28194927" "subst" "0" "01943" "MN1_000005" "g.28194927C>T" "" "" "" "MN1(NM_002430.2):c.1605G>A (p.Q535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27798939C>T" "" "likely benign" "" "0000291920" "0" "30" "22" "28194912" "28194912" "subst" "0" "01943" "MN1_000004" "g.28194912T>C" "" "" "" "MN1(NM_002430.2):c.1620A>G (p.Q540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27798924T>C" "" "likely benign" "" "0000291921" "0" "30" "22" "28194453" "28194453" "subst" "0.000356804" "01943" "MN1_000003" "g.28194453G>A" "" "" "" "MN1(NM_002430.2):c.2079C>T (p.P693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27798465G>A" "" "likely benign" "" "0000291922" "0" "50" "22" "28192801" "28192801" "subst" "0" "01943" "MN1_000001" "g.28192801G>A" "" "" "" "MN1(NM_002430.2):c.3731C>T (p.T1244M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27796813G>A" "" "VUS" "" "0000328959" "0" "50" "22" "28195117" "28195117" "subst" "0" "01804" "MN1_000006" "g.28195117G>T" "" "" "" "MN1(NM_002430.2):c.1415C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27799129G>T" "" "VUS" "" "0000618509" "0" "70" "22" "28146983" "28146983" "subst" "0" "02329" "MN1_000008" "g.28146983G>A" "" "" "" "MN1(NM_002430.3):c.3883C>T (p.R1295*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27750995G>A" "" "likely pathogenic" "" "0000629400" "0" "90" "22" "28146983" "28146983" "subst" "0" "00006" "MN1_000008" "g.28146983G>A" "" "{PMID:Miyake 2020:31839203}, {DOI:Miyake:10.1016/j.ajhg.2019.11.011}" "" "" "" "De novo" "" "" "0" "" "" "g.27750995G>A" "" "pathogenic (dominant)" "" "0000629401" "0" "90" "22" "28147031" "28147031" "subst" "0" "00006" "MN1_000009" "g.28147031G>A" "" "{PMID:Miyake 2020:31839203}, {DOI:Miyake:10.1016/j.ajhg.2019.11.011}" "" "" "" "De novo" "" "" "0" "" "" "g.27751043G>A" "" "pathogenic (dominant)" "" "0000629402" "0" "90" "22" "28147022" "28147025" "del" "0" "00006" "MN1_000010" "g.28147022_28147025del" "" "{PMID:Miyake 2020:31839203}, {DOI:Miyake:10.1016/j.ajhg.2019.11.011}" "" "" "" "De novo" "" "" "0" "" "" "g.27751034_27751037del" "" "pathogenic (dominant)" "" "0000629408" "0" "90" "22" "28192804" "28192808" "dup" "0" "00006" "MN1_000020" "g.28192804_28192808dup" "" "{PMID:Mak 2020:31834374}" "" "3730_3731insAAGAC (Thr1244Lysfs*78)" "" "De novo" "" "" "0" "" "" "g.27796816_27796820dup" "" "pathogenic (dominant)" "" "0000629409" "0" "90" "22" "28192787" "28192787" "subst" "0" "00006" "MN1_000019" "g.28192787C>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27796799C>A" "" "pathogenic (dominant)" "" "0000629410" "0" "90" "22" "28192754" "28192754" "subst" "0" "00006" "MN1_000018" "g.28192754C>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27796766C>A" "" "pathogenic (dominant)" "" "0000629411" "0" "90" "22" "28147049" "28147049" "subst" "0" "00006" "MN1_000017" "g.28147049G>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27751061G>A" "" "pathogenic (dominant)" "" "0000629412" "11" "90" "22" "28147049" "28147049" "subst" "0" "00006" "MN1_000017" "g.28147049G>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27751061G>A" "" "pathogenic (dominant)" "" "0000629413" "11" "90" "22" "28147049" "28147049" "subst" "0" "00006" "MN1_000017" "g.28147049G>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27751061G>A" "" "pathogenic (dominant)" "" "0000629414" "0" "90" "22" "28147049" "28147049" "subst" "0" "00006" "MN1_000017" "g.28147049G>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "Somatic" "" "" "0" "" "" "g.27751061G>A" "" "pathogenic (dominant)" "" "0000629415" "0" "90" "22" "28147027" "28147027" "del" "0" "00006" "MN1_000016" "g.28147027del" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27751039del" "" "pathogenic (dominant)" "" "0000629416" "0" "90" "22" "28147016" "28147017" "delins" "0" "00006" "MN1_000015" "g.28147016_28147017delinsT" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27751028_27751029delinsT" "" "pathogenic (dominant)" "" "0000629417" "0" "90" "22" "28146988" "28146997" "dup" "0" "00006" "MN1_000007" "g.28146988_28146997dup" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27751000_27751009dup" "" "pathogenic (dominant)" "" "0000629418" "0" "90" "22" "28146983" "28146983" "subst" "0" "00006" "MN1_000008" "g.28146983G>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27750995G>A" "" "pathogenic (dominant)" "" "0000629419" "0" "90" "22" "28146983" "28146983" "subst" "0" "00006" "MN1_000008" "g.28146983G>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27750995G>A" "" "pathogenic (dominant)" "" "0000629420" "0" "90" "22" "28146983" "28146983" "subst" "0" "00006" "MN1_000008" "g.28146983G>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27750995G>A" "" "pathogenic (dominant)" "" "0000629421" "0" "90" "22" "28146983" "28146983" "subst" "0" "00006" "MN1_000008" "g.28146983G>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27750995G>A" "" "pathogenic (dominant)" "" "0000629422" "0" "90" "22" "28146983" "28146983" "subst" "0" "00006" "MN1_000008" "g.28146983G>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27750995G>A" "" "pathogenic (dominant)" "" "0000629423" "0" "90" "22" "28146983" "28146983" "subst" "0" "00006" "MN1_000008" "g.28146983G>A" "" "{PMID:DDDS 2017:28135719}, {PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27750995G>A" "" "pathogenic (dominant)" "" "0000629424" "0" "90" "22" "28146983" "28146983" "subst" "0" "00006" "MN1_000008" "g.28146983G>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27750995G>A" "" "pathogenic (dominant)" "" "0000629425" "0" "90" "22" "28146983" "28146983" "subst" "0" "00006" "MN1_000008" "g.28146983G>A" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27750995G>A" "" "pathogenic (dominant)" "" "0000629426" "0" "90" "22" "28146973" "28146974" "dup" "0" "00006" "MN1_000014" "g.28146973_28146974dup" "" "{PMID:DDDS 2017:28135719}, {PMID:Mak 2020:31834374}" "" "3893_3894dupTG" "" "De novo" "" "" "0" "" "" "g.27750985_27750986dup" "" "pathogenic (dominant)" "" "0000629427" "0" "90" "22" "28146963" "28146963" "subst" "0" "00006" "MN1_000013" "g.28146963C>T" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27750975C>T" "" "pathogenic (dominant)" "" "0000629428" "0" "90" "22" "28146963" "28146963" "subst" "0" "00006" "MN1_000013" "g.28146963C>T" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27750975C>T" "" "pathogenic (dominant)" "" "0000629429" "0" "90" "22" "28146963" "28146963" "subst" "0" "00006" "MN1_000013" "g.28146963C>T" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27750975C>T" "" "pathogenic (dominant)" "" "0000629430" "0" "90" "22" "28146935" "28146940" "delins" "0" "00006" "MN1_000012" "g.28146935_28146940delinsN[17]" "" "{PMID:Mak 2020:31834374}" "" "3926_3931 delCCAACAins17" "" "De novo" "" "" "0" "" "" "g.27750947_27750952delinsN[17]" "" "pathogenic (dominant)" "" "0000629431" "0" "90" "22" "28195996" "28195996" "del" "0" "00006" "MN1_000022" "g.28195996del" "" "{PMID:Mak 2020:31834374}" "" "536delC" "" "De novo" "" "" "0" "" "" "g.27800008del" "" "pathogenic (dominant)" "" "0000629432" "0" "90" "22" "28195442" "28195442" "dup" "0" "00006" "MN1_000021" "g.28195442dup" "" "{PMID:Mak 2020:31834374}" "" "1091dupC" "" "De novo" "" "" "0" "" "" "g.27799454dup" "" "pathogenic (dominant)" "" "0000629433" "0" "90" "22" "28195117" "28195117" "subst" "0" "00006" "MN1_000006" "g.28195117G>T" "" "{PMID:Mak 2020:31834374}" "" "" "" "De novo" "" "" "0" "" "" "g.27799129G>T" "" "pathogenic (dominant)" "" "0000629434" "0" "90" "22" "28105465" "28235360" "del" "0" "00006" "MN1_000011" "g.(28000000_28105465)_(28235360_28300000)del" "" "{PMID:Mak 2020:31834374}" "" "130 kb del chr22:28105465-28235360" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000629435" "0" "90" "22" "27963416" "29132458" "del" "0" "00006" "MN1_000011" "g.(27900000_27963416)_(29132458_29200000)del" "" "{PMID:Mak 2020:31834374}" "" "1.17 Mb del chr22:27963416-29132458" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000629544" "3" "90" "19" "54684518" "54684524" "del" "0" "00006" "TMEM8C_000005" "g.54684518_54684524del" "" "{PMID:Johansen 2016:27616480}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54180801_54180807del" "" "pathogenic (recessive)" "" "0000663253" "0" "70" "22" "28192835" "28192847" "del" "0" "01759" "MN1_000023" "g.28192835_28192847del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.27796847_27796859del" "" "pathogenic (dominant)" "" "0000667616" "0" "50" "22" "28146983" "28146983" "subst" "0" "00006" "MN1_000008" "g.28146983G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.27750995G>A" "" "VUS" "ACMG" "0000681822" "0" "30" "22" "28192982" "28192982" "subst" "0.00331361" "01943" "MN1_000024" "g.28192982C>G" "" "" "" "MN1(NM_002430.2):c.3550G>C (p.E1184Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681823" "0" "50" "22" "28193854" "28193854" "subst" "0" "01943" "MN1_000025" "g.28193854G>C" "" "" "" "MN1(NM_002430.2):c.2678C>G (p.P893R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681824" "0" "50" "22" "28194517" "28194517" "subst" "0.000834871" "01943" "MN1_000026" "g.28194517G>A" "" "" "" "MN1(NM_002430.2):c.2015C>T (p.S672L, p.(Ser672Leu)), MN1(NM_002430.3):c.2015C>T (p.S672L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693133" "0" "30" "22" "28194276" "28194276" "subst" "0" "01943" "MN1_000027" "g.28194276G>A" "" "" "" "MN1(NM_002430.2):c.2256C>T (p.G752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693134" "0" "30" "22" "28194933" "28194953" "del" "0" "01943" "MN1_000028" "g.28194933_28194953del" "" "" "" "MN1(NM_002430.2):c.1605_1625delGCAGCAGCAGCAGCAACAGCA (p.Q544_Q550del), MN1(NM_002430.3):c.1605_1625delGCAGCAGCAGCAGCAACAGCA (p.Q544_Q550del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693135" "0" "50" "22" "28196476" "28196476" "subst" "0.00113883" "01943" "MN1_000029" "g.28196476C>T" "" "" "" "MN1(NM_002430.2):c.56G>A (p.G19D), MN1(NM_002430.3):c.56G>A (p.G19D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708310" "0" "90" "22" "28146983" "28146983" "subst" "0" "01164" "MN1_000008" "g.28146983G>A" "" "PMID:28135719; 26795593; 31834374; 31839203" "" "" "ACMG: PS2_very strong; PS4_ moderat; PM2; class 5" "De novo" "?" "" "" "" "" "" "{CV:000072912}" "pathogenic (dominant)" "ACMG" "0000728069" "0" "50" "22" "28195031" "28195031" "subst" "0.00050841" "01943" "MN1_000030" "g.28195031G>A" "" "" "" "MN1(NM_002430.2):c.1501C>T (p.P501S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728070" "0" "50" "22" "28195109" "28195109" "subst" "0" "02329" "MN1_000031" "g.28195109C>G" "" "" "" "MN1(NM_002430.3):c.1423G>C (p.G475R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000794883" "0" "90" "22" "28194068" "28194068" "subst" "0" "01164" "MN1_000032" "g.28194068G>A" "" "" "" "" "ACMG: PVS1, PS2_MOD, PM2_SUP; confirmed de novo in trio-exome" "De novo" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000809527" "0" "50" "22" "28194755" "28194755" "subst" "0" "01943" "MN1_000033" "g.28194755C>A" "" "" "" "MN1(NM_002430.2):c.1777G>T (p.G593C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823179" "0" "70" "22" "28192788" "28192788" "subst" "0" "01164" "MN1_000034" "g.28192788C>T" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000856087" "0" "30" "22" "28194933" "28194953" "del" "0" "02325" "MN1_000028" "g.28194933_28194953del" "" "" "" "MN1(NM_002430.2):c.1605_1625delGCAGCAGCAGCAGCAACAGCA (p.Q544_Q550del), MN1(NM_002430.3):c.1605_1625delGCAGCAGCAGCAGCAACAGCA (p.Q544_Q550del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866760" "0" "70" "22" "28193723" "28193723" "del" "0" "02327" "MN1_000035" "g.28193723del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866761" "0" "10" "22" "28194960" "28194962" "dup" "0" "01804" "MN1_000036" "g.28194960_28194962dup" "" "" "" "MN1(NM_002430.2):c.1596_1598dup (p.(Gln550dup)), MN1(NM_002430.3):c.1596_1598dupGCA (p.Q550dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895630" "0" "50" "22" "28195685" "28195685" "subst" "0" "02325" "MN1_000037" "g.28195685C>A" "" "" "" "MN1(NM_002430.3):c.847G>T (p.V283L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915498" "0" "30" "22" "28194517" "28194517" "subst" "0.000834871" "02325" "MN1_000026" "g.28194517G>A" "" "" "" "MN1(NM_002430.2):c.2015C>T (p.S672L, p.(Ser672Leu)), MN1(NM_002430.3):c.2015C>T (p.S672L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915499" "0" "50" "22" "28194632" "28194632" "subst" "7.5705E-5" "02325" "MN1_000038" "g.28194632C>G" "" "" "" "MN1(NM_002430.3):c.1900G>C (p.G634R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927124" "0" "50" "22" "28195564" "28195564" "subst" "1.92827E-5" "02325" "MN1_000039" "g.28195564A>G" "" "" "" "MN1(NM_002430.3):c.968T>C (p.M323T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927125" "0" "50" "22" "28195636" "28195653" "del" "0" "02325" "MN1_000040" "g.28195636_28195653del" "" "" "" "MN1(NM_002430.3):c.908_925delCCCAGCAGCAGCAGCAGC (p.P303_Q308del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931257" "0" "50" "22" "28192812" "28192814" "del" "0" "02325" "MN1_000041" "g.28192812_28192814del" "" "" "" "MN1(NM_002430.3):c.3724_3726delGAC (p.D1242del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954329" "21" "90" "22" "28192754" "28192754" "subst" "0" "00006" "MN1_000018" "g.28192754C>A" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PVS1, PS1, PM2; non-concordant segregation" "Germline" "" "" "0" "" "" "g.27796766C>A" "" "pathogenic" "ACMG" "0000970428" "0" "50" "22" "28147047" "28147047" "subst" "0" "02325" "MN1_000042" "g.28147047C>A" "" "" "" "MN1(NM_002430.3):c.3819G>T (p.Q1273H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970429" "0" "50" "22" "28194425" "28194425" "subst" "0" "02325" "MN1_000043" "g.28194425C>T" "" "" "" "MN1(NM_002430.3):c.2107G>A (p.G703R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984163" "0" "50" "22" "28194921" "28194932" "dup" "0" "01804" "MN1_000044" "g.28194921_28194932dup" "" "" "" "MN1(NM_002430.3):c.1608_1619dup (p.(Gln547_Gln550dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984164" "0" "30" "22" "28194932" "28194933" "ins" "0" "01804" "MN1_000045" "g.28194932_28194933insC" "" "" "" "MN1(NM_002430.3):c.1599_1600insG (p.(Gln534Alafs*26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984165" "0" "50" "22" "28194933" "28194934" "ins" "0" "01804" "MN1_000046" "g.28194933_28194934insGC" "" "" "" "MN1(NM_002430.3):c.1598_1599insGC (p.(Gln534HisfsTer25))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984166" "0" "30" "22" "28196068" "28196068" "subst" "0" "01804" "MN1_000047" "g.28196068T>G" "" "" "" "MN1(NM_002430.3):c.464A>C (p.(His155Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984167" "0" "50" "22" "28196164" "28196164" "subst" "1.745E-5" "01804" "MN1_000048" "g.28196164G>A" "" "" "" "MN1(NM_002430.3):c.368C>T (p.(Pro123Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984168" "0" "30" "22" "28196288" "28196288" "subst" "9.42161E-6" "01804" "MN1_000049" "g.28196288C>T" "" "" "" "MN1(NM_002430.3):c.244G>A (p.(Gly82Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005974" "0" "50" "22" "28193084" "28193084" "subst" "0" "01804" "MN1_000050" "g.28193084T>A" "" "" "" "MN1(NM_002430.2):c.3448A>T (p.(Ile1150Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005975" "0" "50" "22" "28193188" "28193188" "subst" "0" "01804" "MN1_000051" "g.28193188G>A" "" "" "" "MN1(NM_002430.2):c.3344C>T (p.(Pro1115Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005976" "0" "50" "22" "28193272" "28193272" "subst" "3.575E-5" "01804" "MN1_000052" "g.28193272C>T" "" "" "" "MN1(NM_002430.2):c.3260G>A (p.(Arg1087His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005977" "0" "50" "22" "28194346" "28194346" "subst" "0" "01804" "MN1_000053" "g.28194346C>G" "" "" "" "MN1(NM_002430.2):c.2186G>C (p.(Arg729Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005978" "0" "30" "22" "28194517" "28194517" "subst" "0.000834871" "01804" "MN1_000026" "g.28194517G>A" "" "" "" "MN1(NM_002430.2):c.2015C>T (p.S672L, p.(Ser672Leu)), MN1(NM_002430.3):c.2015C>T (p.S672L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005979" "0" "30" "22" "28194897" "28194899" "del" "0" "02325" "MN1_000054" "g.28194897_28194899del" "" "" "" "MN1(NM_002430.3):c.1649_1651delAGC (p.Q550del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005980" "0" "30" "22" "28195620" "28195622" "del" "0" "01804" "MN1_000055" "g.28195620_28195622del" "" "" "" "MN1(NM_002430.2):c.927_929delGCA (p.(Gln309del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005981" "0" "30" "22" "28195659" "28195659" "subst" "2.07532E-5" "01804" "MN1_000056" "g.28195659C>G" "" "" "" "MN1(NM_002430.2):c.873G>C (p.(Gln291His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005982" "0" "30" "22" "28195807" "28195807" "subst" "2.27961E-5" "01804" "MN1_000057" "g.28195807C>T" "" "" "" "MN1(NM_002430.2):c.725G>A (p.(Gly242Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015919" "0" "70" "22" "28193597" "28193597" "subst" "0" "02327" "MN1_000058" "g.28193597G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015920" "0" "30" "22" "28194960" "28194962" "del" "0" "02325" "MN1_000059" "g.28194960_28194962del" "" "" "" "MN1(NM_002430.3):c.1596_1598delGCA (p.Q550del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015921" "0" "10" "22" "28194960" "28194962" "dup" "0" "02325" "MN1_000036" "g.28194960_28194962dup" "" "" "" "MN1(NM_002430.2):c.1596_1598dup (p.(Gln550dup)), MN1(NM_002430.3):c.1596_1598dupGCA (p.Q550dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027380" "0" "50" "22" "28193629" "28193629" "subst" "0" "02325" "MN1_000060" "g.28193629C>T" "" "" "" "MN1(NM_002430.3):c.2903G>A (p.S968N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043787" "0" "30" "22" "28196476" "28196476" "subst" "0.00113883" "02325" "MN1_000029" "g.28196476C>T" "" "" "" "MN1(NM_002430.2):c.56G>A (p.G19D), MN1(NM_002430.3):c.56G>A (p.G19D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047172" "0" "70" "22" "28194933" "28194934" "ins" "0" "03820" "MN1_000046" "g.28194933_28194934insGC" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27798945_27798946insGC" "" "likely pathogenic" "ACMG" "0001057109" "0" "50" "22" "28194933" "28194934" "ins" "0" "01804" "MN1_000061" "g.28194933_28194934insGTTGC" "" "" "" "MN1(NM_002430.3):c.1598_1599insGCAAC (p.(Gln535Hisfs*25))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057110" "0" "50" "22" "28195729" "28195729" "subst" "0" "01804" "MN1_000062" "g.28195729C>A" "" "" "" "MN1(NM_002430.3):c.803G>T (p.(Gly268Val))" "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 MN1 ## Count = 88 "{{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}}" "0000248731" "00013738" "10" "2349" "0" "2349" "0" "c.2349T>G" "r.(?)" "p.(Gly783=)" "" "0000291919" "00013738" "30" "1605" "0" "1605" "0" "c.1605G>A" "r.(?)" "p.(Gln535=)" "" "0000291920" "00013738" "30" "1620" "0" "1620" "0" "c.1620A>G" "r.(?)" "p.(Gln540=)" "" "0000291921" "00013738" "30" "2079" "0" "2079" "0" "c.2079C>T" "r.(?)" "p.(Pro693=)" "" "0000291922" "00013738" "50" "3731" "0" "3731" "0" "c.3731C>T" "r.(?)" "p.(Thr1244Met)" "" "0000328959" "00013738" "50" "1415" "0" "1415" "0" "c.1415C>A" "r.(?)" "p.(Ser472Ter)" "" "0000618509" "00013738" "70" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295Ter)" "" "0000629400" "00013738" "90" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295*)" "" "0000629401" "00013738" "90" "3835" "0" "3835" "0" "c.3835C>T" "r.(?)" "p.(Gln1279*)" "" "0000629402" "00013738" "90" "3846" "0" "3849" "0" "c.3846_3849del" "r.(?)" "p.(Val1283Thrfs*36)" "" "0000629408" "00013738" "90" "3727" "0" "3731" "0" "c.3727_3731dup" "r.(?)" "p.(Leu1245Argfs*77)" "1" "0000629409" "00013738" "90" "3745" "0" "3745" "0" "c.3745G>T" "r.3745g>u" "p.Glu1249*" "1" "0000629410" "00013738" "90" "3778" "0" "3778" "0" "c.3778G>T" "r.(?)" "p.(Glu1260*)" "1" "0000629411" "00013738" "90" "3817" "0" "3817" "0" "c.3817C>T" "r.(?)" "p.(Gln1273*)" "2" "0000629412" "00013738" "90" "3817" "0" "3817" "0" "c.3817C>T" "r.(?)" "p.(Gln1273*)" "2" "0000629413" "00013738" "90" "3817" "0" "3817" "0" "c.3817C>T" "r.(?)" "p.(Gln1273*)" "2" "0000629414" "00013738" "90" "3817" "0" "3817" "0" "c.3817C>T" "r.(?)" "p.(Gln1273*)" "2" "0000629415" "00013738" "90" "3839" "0" "3839" "0" "c.3839del" "r.(?)" "p.(Cys1280Serfs*40)" "2" "0000629416" "00013738" "90" "3849" "0" "3850" "0" "c.3849_3850delinsA" "r.(?)" "p.(His1284Thrfs*36)" "2" "0000629417" "00013738" "90" "3870" "0" "3879" "0" "c.3870_3879dup" "r.3870_3879dup" "p.Ala1294*" "2" "0000629418" "00013738" "90" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295*)" "2" "0000629419" "00013738" "90" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295*)" "2" "0000629420" "00013738" "90" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295*)" "2" "0000629421" "00013738" "90" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295*)" "2" "0000629422" "00013738" "90" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295*)" "2" "0000629423" "00013738" "90" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295*)" "2" "0000629424" "00013738" "90" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295*)" "2" "0000629425" "00013738" "90" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295*)" "2" "0000629426" "00013738" "90" "3893" "0" "3894" "0" "c.3893_3894dup" "r.(?)" "p.(Pro1299Cysfs*22)" "2" "0000629427" "00013738" "90" "3903" "0" "3903" "0" "c.3903G>A" "r.(?)" "p.(Trp1301*)" "2" "0000629428" "00013738" "90" "3903" "0" "3903" "0" "c.3903G>A" "r.3903g>a" "p.Trp1301*" "2" "0000629429" "00013738" "90" "3903" "0" "3903" "0" "c.3903G>A" "r.(?)" "p.(Trp1301*)" "2" "0000629430" "00013738" "90" "3926" "0" "3931" "0" "c.3926_3931delins(17)" "r.(?)" "p.(Ser1309*)" "2" "0000629431" "00013738" "90" "536" "0" "536" "0" "c.536del" "r.(?)" "p.(Ser179*)" "1" "0000629432" "00013738" "90" "1091" "0" "1091" "0" "c.1091dup" "r.(?)" "p.(Pro365Thrfs*120)" "1" "0000629433" "00013738" "90" "1415" "0" "1415" "0" "c.1415C>A" "r.(?)" "p.(Ser472*)" "1" "0000629434" "00013738" "90" "0" "0" "0" "0" "c.-955_*2638[0]" "r.0" "p.0" "_1_2_" "0000629435" "00013738" "90" "0" "0" "0" "0" "c.-955_*2638[0]" "r.0" "p.0" "_1_2_" "0000629544" "00013738" "90" "820" "0" "826" "0" "c.820_826del" "r.(?)" "p.(Gly274Profs*47)" "" "0000663253" "00013738" "70" "3686" "0" "3698" "0" "c.3686_3698del" "r.(?)" "p.(Met1229Argfs*87)" "" "0000667616" "00013738" "50" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295*)" "" "0000681822" "00013738" "30" "3550" "0" "3550" "0" "c.3550G>C" "r.(?)" "p.(Glu1184Gln)" "" "0000681823" "00013738" "50" "2678" "0" "2678" "0" "c.2678C>G" "r.(?)" "p.(Pro893Arg)" "" "0000681824" "00013738" "50" "2015" "0" "2015" "0" "c.2015C>T" "r.(?)" "p.(Ser672Leu)" "" "0000693133" "00013738" "30" "2256" "0" "2256" "0" "c.2256C>T" "r.(?)" "p.(Gly752=)" "" "0000693134" "00013738" "30" "1605" "0" "1625" "0" "c.1605_1625del" "r.(?)" "p.(Gln544_Gln550del)" "" "0000693135" "00013738" "50" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Gly19Asp)" "" "0000708310" "00013738" "90" "3883" "0" "3883" "0" "c.3883C>T" "r.(?)" "p.(Arg1295*)" "2" "0000728069" "00013738" "50" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Pro501Ser)" "" "0000728070" "00013738" "50" "1423" "0" "1423" "0" "c.1423G>C" "r.(?)" "p.(Gly475Arg)" "" "0000794883" "00013738" "90" "2464" "0" "2464" "0" "c.2464C>T" "r.(?)" "p.(Gln822*)" "" "0000809527" "00013738" "50" "1777" "0" "1777" "0" "c.1777G>T" "r.(?)" "p.(Gly593Cys)" "" "0000823179" "00013738" "70" "3744" "0" "3744" "0" "c.3744G>A" "r.(?)" "p.(Trp1248*)" "" "0000856087" "00013738" "30" "1605" "0" "1625" "0" "c.1605_1625del" "r.(?)" "p.(Gln544_Gln550del)" "" "0000866760" "00013738" "70" "2813" "0" "2813" "0" "c.2813del" "r.(?)" "p.(Gly938Alafs*16)" "" "0000866761" "00013738" "10" "1596" "0" "1598" "0" "c.1596_1598dup" "r.(?)" "p.(Gln550dup)" "" "0000895630" "00013738" "50" "847" "0" "847" "0" "c.847G>T" "r.(?)" "p.(Val283Leu)" "" "0000915498" "00013738" "30" "2015" "0" "2015" "0" "c.2015C>T" "r.(?)" "p.(Ser672Leu)" "" "0000915499" "00013738" "50" "1900" "0" "1900" "0" "c.1900G>C" "r.(?)" "p.(Gly634Arg)" "" "0000927124" "00013738" "50" "968" "0" "968" "0" "c.968T>C" "r.(?)" "p.(Met323Thr)" "" "0000927125" "00013738" "50" "908" "0" "925" "0" "c.908_925del" "r.(?)" "p.(Pro303_Gln308del)" "" "0000931257" "00013738" "50" "3724" "0" "3726" "0" "c.3724_3726del" "r.(?)" "p.(Asp1242del)" "" "0000954329" "00013738" "90" "3778" "0" "3778" "0" "c.3778G>T" "r.(?)" "p.(Glu1260Ter)" "" "0000970428" "00013738" "50" "3819" "0" "3819" "0" "c.3819G>T" "r.(?)" "p.(Gln1273His)" "" "0000970429" "00013738" "50" "2107" "0" "2107" "0" "c.2107G>A" "r.(?)" "p.(Gly703Arg)" "" "0000984163" "00013738" "50" "1608" "0" "1619" "0" "c.1608_1619dup" "r.(?)" "p.(Gln547_Gln550dup)" "" "0000984164" "00013738" "30" "1599" "0" "1600" "0" "c.1599_1600insG" "r.(?)" "p.(Gln534Alafs*26)" "" "0000984165" "00013738" "50" "1598" "0" "1599" "0" "c.1598_1599insGC" "r.(?)" "p.(Gln534Hisfs*25)" "" "0000984166" "00013738" "30" "464" "0" "464" "0" "c.464A>C" "r.(?)" "p.(His155Pro)" "" "0000984167" "00013738" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Pro123Leu)" "" "0000984168" "00013738" "30" "244" "0" "244" "0" "c.244G>A" "r.(?)" "p.(Gly82Arg)" "" "0001005974" "00013738" "50" "3448" "0" "3448" "0" "c.3448A>T" "r.(?)" "p.(Ile1150Phe)" "" "0001005975" "00013738" "50" "3344" "0" "3344" "0" "c.3344C>T" "r.(?)" "p.(Pro1115Leu)" "" "0001005976" "00013738" "50" "3260" "0" "3260" "0" "c.3260G>A" "r.(?)" "p.(Arg1087His)" "" "0001005977" "00013738" "50" "2186" "0" "2186" "0" "c.2186G>C" "r.(?)" "p.(Arg729Pro)" "" "0001005978" "00013738" "30" "2015" "0" "2015" "0" "c.2015C>T" "r.(?)" "p.(Ser672Leu)" "" "0001005979" "00013738" "30" "1649" "0" "1651" "0" "c.1649_1651del" "r.(?)" "p.(Gln550del)" "" "0001005980" "00013738" "30" "927" "0" "929" "0" "c.927_929del" "r.(?)" "p.(Gln309del)" "" "0001005981" "00013738" "30" "873" "0" "873" "0" "c.873G>C" "r.(?)" "p.(Gln291His)" "" "0001005982" "00013738" "30" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Gly242Glu)" "" "0001015919" "00013738" "70" "2935" "0" "2935" "0" "c.2935C>T" "r.(?)" "p.(Gln979*)" "" "0001015920" "00013738" "30" "1596" "0" "1598" "0" "c.1596_1598del" "r.(?)" "p.(Gln550del)" "" "0001015921" "00013738" "10" "1596" "0" "1598" "0" "c.1596_1598dup" "r.(?)" "p.(Gln550dup)" "" "0001027380" "00013738" "50" "2903" "0" "2903" "0" "c.2903G>A" "r.(?)" "p.(Ser968Asn)" "" "0001043787" "00013738" "30" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Gly19Asp)" "" "0001047172" "00013738" "70" "1598" "0" "1599" "0" "c.1598_1599insGC" "r.(?)" "p.(Gln534Hisfs*25)" "" "0001057109" "00013738" "50" "1598" "0" "1599" "0" "c.1598_1599insGCAAC" "r.(?)" "p.(Gln535Hisfs*25)" "" "0001057110" "00013738" "50" "803" "0" "803" "0" "c.803G>T" "r.(?)" "p.(Gly268Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 39 "{{screeningid}}" "{{variantid}}" "0000275396" "0000629400" "0000275397" "0000629401" "0000275398" "0000629402" "0000275404" "0000629408" "0000275405" "0000629409" "0000275406" "0000629410" "0000275407" "0000629411" "0000275408" "0000629412" "0000275409" "0000629413" "0000275410" "0000629414" "0000275411" "0000629415" "0000275412" "0000629416" "0000275413" "0000629417" "0000275414" "0000629418" "0000275415" "0000629419" "0000275416" "0000629420" "0000275417" "0000629421" "0000275418" "0000629422" "0000275419" "0000629423" "0000275420" "0000629424" "0000275421" "0000629425" "0000275422" "0000629426" "0000275423" "0000629427" "0000275424" "0000629428" "0000275425" "0000629429" "0000275426" "0000629430" "0000275427" "0000629431" "0000275428" "0000629432" "0000275429" "0000629433" "0000275430" "0000629434" "0000275431" "0000629435" "0000275513" "0000629544" "0000300541" "0000663253" "0000304203" "0000667616" "0000325330" "0000708310" "0000381425" "0000794883" "0000392744" "0000823179" "0000446071" "0000954329" "0000467833" "0001047172"