### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MPI) # 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}}" "MPI" "mannose phosphate isomerase" "15" "q22-qter" "unknown" "NG_008921.1" "UD_132084507240" "" "http://www.LOVD.nl/MPI" "Congenital Disorder of Glycosylation pages " "1" "7216" "4351" "154550" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "" "" "1" "" "\"EuroglycanetCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00001" "2012-09-05 00:00:00" "00006" "2015-03-20 19:35:12" "00000" "2025-05-05 21:14:00" ## 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}}" "00013796" "MPI" "mannose phosphate isomerase" "001" "NM_002435.1" "" "NP_002426.1" "" "" "" "-5" "1766" "1272" "75182410" "75190565" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02434" "CDG1B" "glycosylation, congenital disorder of, type Ib (CDG-1B)" "AR" "602579" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MPI" "02434" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00229636" "" "" "" "1" "" "02993" "" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00229637" "" "" "" "1" "" "02993" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00229638" "" "" "" "1" "" "02993" "" "" "?" "" "France" "" "0" "" "" "" "" "00229639" "" "" "" "1" "" "02993" "" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00229640" "" "" "" "1" "" "02993" "" "" "?" "" "United States" "" "0" "" "" "" "" "00229641" "" "" "" "1" "" "02993" "" "" "?" "" "Poland" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00229636" "02434" "00229637" "02434" "00229638" "02434" "00229639" "02434" "00229640" "02434" "00229641" "02434" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02434 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000230729" "00229636" "1" "02993" "02993" "2012-09-11 11:45:55" "" "" "SEQ" "DNA" "" "" "0000230730" "00229637" "1" "02993" "02993" "2012-09-11 11:45:55" "" "" "SEQ" "DNA" "" "" "0000230731" "00229638" "1" "02993" "02993" "2012-09-11 11:45:55" "" "" "SEQ" "DNA" "" "" "0000230732" "00229639" "1" "02993" "02993" "2012-09-11 11:45:55" "" "" "SEQ" "DNA" "" "" "0000230733" "00229640" "1" "02993" "02993" "2012-09-11 11:45:55" "" "" "SEQ" "DNA" "" "" "0000230734" "00229641" "1" "02993" "02993" "2012-09-11 11:45:55" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000230729" "MPI" "0000230730" "MPI" "0000230731" "MPI" "0000230732" "MPI" "0000230733" "MPI" "0000230734" "MPI" ## 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}}" "0000247321" "0" "10" "15" "75185670" "75185670" "subst" "0.443107" "02330" "MPI_000018" "g.75185670A>G" "" "" "" "MPI(NM_002435.3):c.670+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74893329A>G" "" "benign" "" "0000248451" "0" "10" "15" "75185670" "75185670" "subst" "0.443107" "02325" "MPI_000018" "g.75185670A>G" "" "" "" "MPI(NM_002435.3):c.670+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74893329A>G" "" "benign" "" "0000279856" "0" "10" "15" "75189557" "75189557" "subst" "8.93837E-5" "02330" "MPI_000021" "g.75189557G>A" "" "" "" "MPI(NM_002435.3):c.1050G>A (p.T350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74897216G>A" "" "benign" "" "0000279857" "0" "30" "15" "75182424" "75182424" "subst" "0.00193547" "02330" "MPI_000023" "g.75182424C>T" "" "" "" "MPI(NM_002435.2):c.10C>T (p.P4S), MPI(NM_002435.3):c.10C>T (p.P4S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74890083C>T" "" "likely benign" "" "0000279858" "0" "10" "15" "75183878" "75183878" "subst" "0.00214819" "02330" "MPI_000012" "g.75183878C>T" "" "" "" "MPI(NM_002435.2):c.303C>T (p.L101=), MPI(NM_002435.3):c.303C>T (p.L101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74891537C>T" "" "benign" "" "0000279859" "0" "10" "15" "75183935" "75183935" "subst" "0.374341" "02330" "MPI_000013" "g.75183935G>A" "" "" "" "MPI(NM_002435.3):c.345+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74891594G>A" "" "benign" "" "0000279860" "0" "10" "15" "75183936" "75183936" "subst" "0.0125114" "02330" "MPI_000014" "g.75183936C>T" "" "" "" "MPI(NM_002435.3):c.345+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74891595C>T" "" "benign" "" "0000279861" "0" "10" "15" "75188506" "75188506" "subst" "0.0258106" "02330" "MPI_000019" "g.75188506C>T" "" "" "" "MPI(NM_002435.3):c.684C>T (p.N228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74896165C>T" "" "benign" "" "0000279862" "0" "10" "15" "75189489" "75189489" "subst" "0.00554283" "02330" "MPI_000020" "g.75189489C>T" "" "" "" "MPI(NM_002435.3):c.982C>T (p.R328W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74897148C>T" "" "benign" "" "0000282574" "0" "30" "15" "75182424" "75182424" "subst" "0.00193547" "02325" "MPI_000023" "g.75182424C>T" "" "" "" "MPI(NM_002435.2):c.10C>T (p.P4S), MPI(NM_002435.3):c.10C>T (p.P4S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74890083C>T" "" "likely benign" "" "0000282575" "0" "10" "15" "75183935" "75183935" "subst" "0.374341" "02325" "MPI_000013" "g.75183935G>A" "" "" "" "MPI(NM_002435.3):c.345+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74891594G>A" "" "benign" "" "0000341056" "0" "10" "15" "75189930" "75189930" "subst" "0.44452" "02327" "MPI_000016" "g.75189930A>G" "" "" "" "MPI(NM_002435.3):c.1131A>G (p.V377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74897589A>G" "" "benign" "" "0000344563" "0" "50" "15" "75182892" "75182892" "subst" "8.12222E-6" "02327" "MPI_000015" "g.75182892A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74890551A>C" "" "VUS" "" "0000346715" "0" "70" "15" "75189992" "75189992" "subst" "2.43633E-5" "02327" "MPI_000001" "g.75189992T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74897651T>C" "" "likely pathogenic" "" "0000472341" "1" "99" "15" "75183727" "75183727" "subst" "4.06072E-6" "02993" "MPI_000006" "g.75183727T>C" "" "" "Hpy166II+;FokI-" "" "" "Unknown" "" "" "0" "" "" "g.74891386T>C" "" "pathogenic" "" "0000472342" "2" "99" "15" "75183727" "75183727" "subst" "4.06072E-6" "02993" "MPI_000006" "g.75183727T>C" "" "" "Hpy166II+;FokI-" "" "" "Unknown" "" "" "0" "" "" "g.74891386T>C" "" "pathogenic" "" "0000472343" "1" "99" "15" "75183741" "75183741" "dup" "0" "02993" "MPI_000004" "g.75183741dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.74891400dup" "" "pathogenic" "" "0000472344" "1" "99" "15" "75183880" "75183880" "subst" "3.24873E-5" "02993" "MPI_000002" "g.75183880C>T" "" "" "BspCNI-" "" "" "Unknown" "" "" "0" "" "" "g.74891539C>T" "" "pathogenic" "" "0000472345" "1" "99" "15" "75185047" "75185047" "subst" "1.21863E-5" "02993" "MPI_000009" "g.75185047G>A" "" "" "SfaNI-" "" "" "Unknown" "" "" "0" "" "" "g.74892706G>A" "" "pathogenic" "" "0000472346" "2" "99" "15" "75185069" "75185069" "subst" "0" "02993" "MPI_000003" "g.75185069T>C" "" "" "BceAI+;BccI-" "" "" "Unknown" "" "" "0" "" "" "g.74892728T>C" "" "pathogenic" "" "0000472347" "2" "99" "15" "75185647" "75185647" "subst" "0.000293224" "02993" "MPI_000005" "g.75185647G>A" "" "" "BglII+;AciI-" "" "" "Unknown" "" "" "0" "" "" "g.74893306G>A" "" "pathogenic" "" "0000472348" "2" "99" "15" "75188492" "75188492" "subst" "0" "02993" "MPI_000008" "g.75188492G>C" "" "" "BslI+;AciI-" "IVS5-1G>C" "" "Unknown" "" "" "0" "" "" "g.74896151G>C" "" "pathogenic" "" "0000472349" "1" "99" "15" "75189992" "75189992" "subst" "2.43633E-5" "02993" "MPI_000001" "g.75189992T>C" "" "" "BmrI+" "" "" "Unknown" "" "" "0" "" "" "g.74897651T>C" "" "pathogenic" "" "0000472350" "2" "99" "15" "75189992" "75189992" "subst" "2.43633E-5" "02993" "MPI_000001" "g.75189992T>C" "" "" "BmrI+" "" "" "Unknown" "" "" "0" "" "" "g.74897651T>C" "" "pathogenic" "" "0000472351" "1" "99" "15" "75190052" "75190052" "subst" "8.12143E-6" "02993" "MPI_000007" "g.75190052G>A" "" "" "FatI+" "" "" "Unknown" "" "" "0" "" "" "g.74897711G>A" "" "pathogenic" "" "0000555483" "0" "30" "15" "75183819" "75183819" "subst" "4.06058E-6" "02330" "MPI_000024" "g.75183819T>C" "" "" "" "MPI(NM_002435.3):c.244T>C (p.L82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74891478T>C" "" "likely benign" "" "0000555484" "0" "50" "15" "75183874" "75183874" "subst" "1.62431E-5" "01804" "MPI_000025" "g.75183874T>C" "" "" "" "MPI(NM_002435.2):c.299T>C (p.(Val100Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74891533T>C" "" "VUS" "" "0000555487" "0" "10" "15" "75189930" "75189930" "subst" "0.44452" "02330" "MPI_000016" "g.75189930A>G" "" "" "" "MPI(NM_002435.3):c.1131A>G (p.V377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74897589A>G" "" "benign" "" "0000555488" "0" "10" "15" "75189930" "75189930" "subst" "0.44452" "02325" "MPI_000016" "g.75189930A>G" "" "" "" "MPI(NM_002435.3):c.1131A>G (p.V377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74897589A>G" "" "benign" "" "0000615534" "0" "30" "15" "75183011" "75183011" "subst" "0.00102031" "02330" "MPI_000026" "g.75183011T>A" "" "" "" "MPI(NM_002435.3):c.144+16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74890670T>A" "" "likely benign" "" "0000615535" "0" "30" "15" "75183013" "75183013" "subst" "0.00102477" "02330" "MPI_000027" "g.75183013T>A" "" "" "" "MPI(NM_002435.3):c.144+18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74890672T>A" "" "likely benign" "" "0000615536" "0" "30" "15" "75183015" "75183015" "subst" "0.00102568" "02330" "MPI_000028" "g.75183015T>A" "" "" "" "MPI(NM_002435.3):c.144+20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74890674T>A" "" "likely benign" "" "0000691864" "0" "30" "15" "75182424" "75182424" "subst" "0.00193547" "01943" "MPI_000023" "g.75182424C>T" "" "" "" "MPI(NM_002435.2):c.10C>T (p.P4S), MPI(NM_002435.3):c.10C>T (p.P4S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691865" "0" "30" "15" "75183878" "75183878" "subst" "0.00214819" "01943" "MPI_000012" "g.75183878C>T" "" "" "" "MPI(NM_002435.2):c.303C>T (p.L101=), MPI(NM_002435.3):c.303C>T (p.L101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725304" "0" "30" "15" "75182424" "75182424" "subst" "0.00193547" "02326" "MPI_000023" "g.75182424C>T" "" "" "" "MPI(NM_002435.2):c.10C>T (p.P4S), MPI(NM_002435.3):c.10C>T (p.P4S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806920" "0" "30" "15" "75185564" "75185564" "subst" "0.000316774" "01943" "MPI_000029" "g.75185564C>T" "" "" "" "MPI(NM_002435.2):c.573C>T (p.A191=), MPI(NM_002435.3):c.573C>T (p.(Ala191=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981408" "0" "50" "15" "75185564" "75185564" "subst" "0.000316774" "01804" "MPI_000029" "g.75185564C>T" "" "" "" "MPI(NM_002435.2):c.573C>T (p.A191=), MPI(NM_002435.3):c.573C>T (p.(Ala191=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981409" "0" "50" "15" "75189484" "75189484" "subst" "2.43645E-5" "01804" "FAM219B_000002" "g.75189484C>G" "" "" "" "MPI(NM_002435.3):c.977C>G (p.(Pro326Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981410" "0" "50" "15" "75189863" "75189863" "subst" "4.06187E-6" "01804" "FAM219B_000003" "g.75189863C>G" "" "" "" "MPI(NM_002435.3):c.1064C>G (p.(Ser355Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001661" "0" "30" "15" "75189429" "75189429" "subst" "0" "01804" "FAM219B_000004" "g.75189429C>T" "" "" "" "MPI(NM_002435.1):c.922C>T (p.(Arg308Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040568" "0" "70" "15" "75183880" "75183880" "subst" "3.24873E-5" "02327" "MPI_000002" "g.75183880C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 MPI ## 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}}" "0000247321" "00013796" "10" "670" "9" "670" "9" "c.670+9A>G" "r.(=)" "p.(=)" "" "0000248451" "00013796" "10" "670" "9" "670" "9" "c.670+9A>G" "r.(=)" "p.(=)" "" "0000279856" "00013796" "10" "1050" "0" "1050" "0" "c.1050G>A" "r.(?)" "p.(Thr350=)" "" "0000279857" "00013796" "30" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Pro4Ser)" "" "0000279858" "00013796" "10" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Leu101=)" "" "0000279859" "00013796" "10" "345" "15" "345" "15" "c.345+15G>A" "r.(=)" "p.(=)" "" "0000279860" "00013796" "10" "345" "16" "345" "16" "c.345+16C>T" "r.(=)" "p.(=)" "" "0000279861" "00013796" "10" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(Asn228=)" "" "0000279862" "00013796" "10" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Trp)" "" "0000282574" "00013796" "30" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Pro4Ser)" "" "0000282575" "00013796" "10" "345" "15" "345" "15" "c.345+15G>A" "r.(=)" "p.(=)" "" "0000341056" "00013796" "10" "1131" "0" "1131" "0" "c.1131A>G" "r.(?)" "p.(Val377=)" "" "0000344563" "00013796" "50" "41" "0" "41" "0" "c.41A>C" "r.(?)" "p.(Gln14Pro)" "" "0000346715" "00013796" "70" "1193" "0" "1193" "0" "c.1193T>C" "r.(?)" "p.(Ile398Thr)" "" "0000472341" "00013796" "99" "152" "0" "152" "0" "c.152T>C" "r.(?)" "p.(Met51Thr)" "3" "0000472342" "00013796" "99" "152" "0" "152" "0" "c.152T>C" "r.(?)" "p.(Met51Thr)" "3" "0000472343" "00013796" "99" "166" "0" "166" "0" "c.166dup" "r.(?)" "p.(Arg56Profs*8)" "3" "0000472344" "00013796" "99" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Ser102Leu)" "3" "0000472345" "00013796" "99" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Asp131Asn)" "4" "0000472346" "00013796" "99" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Met138Thr)" "4" "0000472347" "00013796" "99" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Gln)" "5" "0000472348" "00013796" "99" "671" "-1" "671" "-1" "c.671-1G>C" "r.(=)" "p.(=)" "5i" "0000472349" "00013796" "99" "1193" "0" "1193" "0" "c.1193T>C" "r.(?)" "p.(Ile398Thr)" "8" "0000472350" "00013796" "99" "1193" "0" "1193" "0" "c.1193T>C" "r.(?)" "p.(Ile398Thr)" "8" "0000472351" "00013796" "99" "1253" "0" "1253" "0" "c.1253G>A" "r.(?)" "p.(Arg418His)" "8" "0000555483" "00013796" "30" "244" "0" "244" "0" "c.244T>C" "r.(?)" "p.(Leu82=)" "" "0000555484" "00013796" "50" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Val100Ala)" "" "0000555487" "00013796" "10" "1131" "0" "1131" "0" "c.1131A>G" "r.(?)" "p.(Val377=)" "" "0000555488" "00013796" "10" "1131" "0" "1131" "0" "c.1131A>G" "r.(?)" "p.(Val377=)" "" "0000615534" "00013796" "30" "144" "16" "144" "16" "c.144+16T>A" "r.(=)" "p.(=)" "" "0000615535" "00013796" "30" "144" "18" "144" "18" "c.144+18T>A" "r.(=)" "p.(=)" "" "0000615536" "00013796" "30" "144" "20" "144" "20" "c.144+20T>A" "r.(=)" "p.(=)" "" "0000691864" "00013796" "30" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Pro4Ser)" "" "0000691865" "00013796" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Leu101=)" "" "0000725304" "00013796" "30" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Pro4Ser)" "" "0000806920" "00013796" "30" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(Ala191=)" "" "0000981408" "00013796" "50" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(Ala191=)" "" "0000981409" "00013796" "50" "977" "0" "977" "0" "c.977C>G" "r.(?)" "p.(Pro326Arg)" "" "0000981410" "00013796" "50" "1064" "0" "1064" "0" "c.1064C>G" "r.(?)" "p.(Ser355Cys)" "" "0001001661" "00013796" "30" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(=)" "" "0001040568" "00013796" "70" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Ser102Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000230729" "0000472341" "0000230729" "0000472342" "0000230730" "0000472343" "0000230730" "0000472347" "0000230731" "0000472344" "0000230731" "0000472346" "0000230732" "0000472345" "0000230733" "0000472348" "0000230733" "0000472351" "0000230734" "0000472349" "0000230734" "0000472350"