### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MPV17) # 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}}" "MPV17" "MpV17 mitochondrial inner membrane protein" "2" "p23.3" "unknown" "NG_008075.1" "UD_132118941721" "" "https://www.LOVD.nl/MPV17" "" "1" "7224" "4358" "137960" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MPV17_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-04 14:06:32" "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}}" "00013812" "MPV17" "MpV17 mitochondrial inner membrane protein" "001" "NM_002437.4" "" "NP_002428.1" "" "" "" "-56" "951" "531" "27545969" "27532360" "" "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" "00320" "MTDPS6" "mitochondrial DNA depletion syndrome (hepatocerebral), type 6 (MTDPS-6)" "AR" "256810" "" "" "" "00006" "2014-02-02 21:36:48" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05374" "MTDPS" "mitochondrial DNA depletion syndrome (MTDPS)" "" "" "" "" "" "00006" "2018-01-01 15:41:06" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "06483" "CMT2EE" "Charcot-Marie-Tooth disease, axonal, type 2EE" "AR" "618400" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MPV17" "00320" "MPV17" "06483" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00004533" "" "" "" "2" "" "00634" "Uusimaa 2014, EJHG, 22, 181-191" "" "" "" "" "" "0" "" "" "" "" "00036198" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080805" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier mother" "" "" "" "" "0" "" "" "" "" "00143674" "" "" "" "1" "" "02179" "" "" "F" "yes" "" "00y05m" "0" "" "" "" "" "00143675" "" "" "" "1" "" "02179" "" "" "F" "yes" "" "" "0" "" "" "" "" "00143676" "" "" "" "1" "" "02179" "" "" "F" "" "" "" "0" "" "" "" "" "00143678" "" "" "" "1" "" "02179" "" "" "" "" "" "" "0" "" "" "" "" "00143679" "" "" "" "1" "" "02179" "Ayman et al" "" "" "" "" "" "0" "" "" "" "" "00143680" "" "" "" "1" "" "02179" "" "" "" "" "" "" "0" "" "" "" "" "00143681" "" "" "" "1" "" "02179" "Ayman et al" "" "" "" "" "" "0" "" "" "" "" "00143682" "" "" "" "1" "" "02179" "Ayman et al" "" "" "" "" "" "0" "" "" "" "" "00164466" "" "" "" "1" "" "02486" "" "" "" "" "" "" "0" "" "" "" "" "00164467" "" "" "" "1" "" "02486" "" "" "" "" "" "" "0" "" "" "" "" "00288227" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat37" "00307447" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam20PatLP168" "00307457" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam31PatLP147" "00396023" "" "" "" "2" "" "00006" "{PMID:Ababneh 2021:34624274}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Jordan" "" "0" "" "" "" "FM-01" "00403633" "" "" "" "3" "" "00435" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "" "F" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat1" "00403693" "" "" "" "2" "" "00435" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "" "F" "yes" "Egypt" "" "0" "" "" "" "Fam3Pat1" "00403694" "" "" "" "2" "" "00435" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "" "M" "yes" "Egypt" "" "0" "" "" "" "FamPat1" "00403695" "" "" "00403694" "1" "" "00435" "" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "FamPat2" "00403749" "" "" "00403633" "1" "" "00435" "" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat2" "00403750" "" "" "00403633" "1" "" "00435" "" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat3" "00403759" "" "" "00403693" "1" "" "00435" "" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "Fam3Pat2" "00457805" "" "" "" "1" "" "04767" "" "" "M" "" "China" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00004533" "00320" "00036198" "00198" "00080805" "00320" "00143674" "00320" "00143675" "00320" "00143676" "00320" "00143678" "00320" "00143679" "00320" "00143680" "00320" "00143681" "00320" "00143682" "00320" "00164466" "05113" "00164467" "05113" "00288227" "00198" "00307447" "05374" "00307457" "05374" "00396023" "05618" "00403633" "05113" "00403693" "05113" "00403694" "05113" "00403695" "05113" "00403749" "05113" "00403750" "05113" "00403759" "05113" "00457805" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00320, 05113, 05374, 05618, 06483 ## Count = 25 "{{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}}" "0000003240" "00320" "00004533" "00634" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060374" "00320" "00080805" "01758" "Familial, autosomal recessive" "" "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type (OMIM:256810)" "" "" "" "" "" "" "" "" "" "" "" "0000116426" "00320" "00143674" "02179" "Familial, autosomal recessive" "" "Liver dysfunction\r\nLiver failure\r\nHepatomegaly\r\nCholestasis\r\nSteatosis\r\nLiver cirrhosis\r\nDevelopmental delay\r\nHypotonia\r\nMicrocephaly\r\nRetinopathy\r\nLactic acidemia\r\nHypoglycemia\r\nFailure to thrive\r\nFeeding difficulties \r\nGI dysmotility (GER, recurrent vomiting or diarrhea)" "" "" "1m" "" "" "" "" "" "" "" "" "0000116427" "00320" "00143675" "02179" "Familial, autosomal recessive" "" "Liver dysfunction\r\nLiver failure\r\nHepatomegaly\r\nCholestasis\r\nSteatosis\r\nLiver cirrhosis\r\nDevelopmental delay\r\nHypotonia\r\nMicrocephaly\r\nRetinopathy\r\nLactic acidemia\r\nHypoglycemia\r\nFailure to thrive\r\nFeeding difficulties \r\nGI dysmotility (GER, recurrent vomiting or diarrhea)" "" "" "" "" "" "" "" "" "" "" "" "0000116428" "00320" "00143676" "02179" "Familial, autosomal recessive" "" "Liver dysfunction\r\nLiver failure\r\nHepatomegaly\r\nCholestasis\r\nDevelopmental delay\r\nHypotonia\r\nMicrocephaly\r\nLactic acidemia\r\nFailure to thrive\r\nFeeding difficulties \r\n8% mtDNA in liver" "" "" "" "" "" "" "" "" "" "" "" "0000116431" "00320" "00143678" "02179" "Familial, autosomal recessive" "" "Liver dysfunction\r\nLiver failure\r\nHepatomegaly\r\nCholestasis\r\nSteatosis\r\nDevelopmental delay\r\nHypotonia\r\nMicrocephaly\r\nLactic acidemia\r\nHypoglycemia\r\nFailure to thrive\r\nFeeding difficulties \r\nGI dysmotility (GER, recurrent vomiting or diarrhea)\r\n16% mtDNA in liver" "" "" "" "" "" "" "" "" "" "" "" "0000116432" "00320" "00143679" "02179" "Familial, autosomal recessive" "" "Liver dysfunction\r\nLiver failure\r\nHepatomegaly\r\nCholestasis\r\nDevelopmental delay\r\nHypotonia\r\nMicrocephaly\r\nWhite matter abnormalities \r\nBasal ganglia abnormal signal\r\nLactic acidemia\r\nFailure to thrive\r\nFeeding difficulties \r\nGI dysmotility (GER, recurrent vomiting or diarrhea)" "" "" "" "" "" "" "" "" "" "" "" "0000116433" "00320" "00143680" "02179" "Familial, autosomal recessive" "" "Liver dysfunction\r\nLiver failure\r\nHepatomegaly\r\nCholestasis\r\nSteatosis\r\nDevelopmental delay\r\nHypotonia\r\nMicrocephaly\r\nLactic acidemia\r\nFailure to thrive\r\nFeeding difficulties \r\nGI dysmotility (GER, recurrent vomiting or diarrhea)" "" "" "" "" "" "" "" "" "" "" "" "0000116434" "00320" "00143681" "02179" "Familial, autosomal recessive" "" "Liver dysfunction\r\nCholestasis\r\nSteatosis\r\nLiver cirrhosis\r\nDevelopmental delay\r\nPeripheral neuropathy\r\nLactic acidemia\r\nHypoglycemia\r\nFailure to thrive\r\nLow CI\r\nLow CIII\r\n20% mtDNA in liver" "" "" "" "" "" "" "" "" "" "" "" "0000116435" "00320" "00143682" "02179" "Familial, autosomal recessive" "" "Liver dysfunction\r\nHepatomegaly\r\nCholestasis\r\nSteatosis\r\nDevelopmental delay\r\nLactic acidemia\r\nFailure to thrive\r\nFeeding difficulties \r\nGI dysmotility (GER, recurrent vomiting or diarrhea)\r\nLow CI\r\nLow CIII\r\nLow CIv\r\n3% mtDNA in liver" "" "" "" "" "" "" "" "" "" "" "" "0000129516" "05113" "00164466" "02486" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease (CMT)" "" "0000129517" "05113" "00164467" "02486" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease (CMT)" "" "0000156393" "00198" "00036198" "01164" "Unknown" "" "hepatic cirrhosis, psychomotor retardation, muscular hypotonia, splenomegaly" "" "" "" "" "" "" "" "" "" "hepatic cirrhosis" "" "0000221964" "00198" "00288227" "00006" "Familial" "31y" "anisocoria, ptosis, photophobia, tinnitus, scoliosis, muscle cramps, limb pain, muscle weakness, skeletal muscle atrophy, difficulty walking, distal lower limb amyotrophy, broad-based gait, sensory neuropathy, impaired vibratory sensation, severe sensorimotor polyneuropathy with predominantty axonal features, gait imbalance, steppage gait, areflexia, impaired proprioception, peripheral demyelination, demyelination around nerves in a muscle biopsy" "" "" "" "" "" "" "" "" "" "" "" "0000233161" "05374" "00307447" "00006" "Familial, autosomal recessive" "3m" "characteristic phenotype (Neonatal cholestasis, failure to thrive, metabolic acidosis)" "" "" "" "" "" "" "" "" "" "mitochondrial DNA depletion syndromes" "" "0000233171" "05374" "00307457" "00006" "Unknown" "5y" "liver cirrhosis, celiac disease, mass. increased alpha‐feto protein" "" "" "" "" "" "" "" "" "" "mitochondrial DNA depletion syndromes" "" "0000289186" "05618" "00396023" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RS1" "CMT" "" "0000296445" "05113" "00403694" "00435" "Familial, autosomal recessive" "20y" "uneventful pregnancy and delivery; normal developmental milestones; 4y-progressive distal weakness, wasting of LT LL, foot inversion, foot drop with deformity; developed progressive distal weakness, wasting ULs and LLs, progressive diminished sensation ULs and LLs (stocking, glove distribution), marked imbalance occurs in dim vision, attacks of palpitation; no cranial nerve affection, no sphincteric disturbance; walks support, wears foot brace; bilateral flexion deformities of fingers, bilateral foot drop, flexion deformities feet, high arched feet (equinous deformities, trophic ulcerations), bilateral wasting both ULs and LLs (distal and proximal), fingers, hand grips, toes, ankles (grade 0); normal muscle power around knees, hips, shoulders; bilateral lost deep reflexes ULs and LLs; no planter response, long stocking and glove hypoesthesia; impaired deep sensation both LLs; severe axonal neuropathy with secondary demyelination" "" "" "" "" "" "" "" "" "CMT2EE" "Charcot-Marie-Tooth disease" "" "0000296446" "05113" "00403695" "00435" "Familial, autosomal recessive" "12y" "phenotype similar to brother; 12y-walks without support" "04y" "" "" "" "" "" "" "" "CMT2EE" "Charcot-Marie-Tooth disease" "" "0000296447" "05113" "00403633" "00435" "Familial, autosomal recessive" "17y" "normal pregnancy and delivery, normal developmental milestones; 6y-progressive distal weakness, wasting of both LL and UL; 8y-progressive trophic changes in form of frequent ulceration sole feet with frequent burning injuries in hands during doing household duties due to insensitivity to pain; sensory loss distal parts limbs taking glove and stock distribution; walks without support; bilateral pes cavus, hammer toes, tropic changes hands and feet; scoliosis, distal hypotonia around ankles and toes; muscle power around toes and ankle dorsiflexion grade 2; weak hand grip grade 4; motor power around elbow, shoulders, knees and hips grade; bilateral loss deep reflexes ULs and LLs, lost abdominal reflexes, bilateral planter flexion, stocking and glove hypoesthesia, impaired deep sensation both LLs; no electrical motor and sensory response distally both LLs; no electrical sensory response distally both ULs; normal electrical motor response distally both ULs" "" "" "" "" "" "" "" "" "CMT2EE" "Charcot-Marie-Tooth disease" "" "0000296448" "05113" "00403749" "00435" "Familial, autosomal recessive" "15y" "normal pregnancy and delivery, normal developmental milestones; 6y-progressive distal weakness, wasting both LL and UL; 10y-progressive feet deformity, sensory loss distal parts limbs taking glove and stock distribution; walks without support; Charcot joints, bilateral pes cavus (not correctable), hammer toes, tropic changes hands and feet, distal hypotonia around ankles and toes; muscle power around toes and ankle dorsiflexion is grade 2; weak hand grip grade 4; motor power around elbow, shoulders, knees and hips grade 5; bilateral loss deep reflexes ULs and LLs, lost abdominal reflexes, bilateral planter flexion, stocking and glove hypoesthesia, Impaired deep sensation both LLs; no electrical motor and sensory response distally both LLs; no electrical sensory response distally both ULs; normal electrical motor response distally both ULs." "" "" "" "" "" "" "" "" "CMT2EE" "Charcot-Marie-Tooth disease" "" "0000296449" "05113" "00403750" "00435" "Familial, autosomal recessive" "10y" "normal pregnancy and delivery, normal developmental milestones; 8y-progressive trophic changes feet in form of frequent ulceration sole feet; sensory loss distal parts limbs; frequent ulcer surgeries, 9y6m-osteomyelitis; no distal muscle weakness; walks without support; bilateral pes cavus, hammer toes, tropic changes feet, clubbing fingers, hyperextension fingers, distal hypotonia around ankles and toes; normal muscle power upper and lower limbs, bilateral loss deep reflexes ULs and LLs, lost abdominal reflexes, bilateral planter flexion, stocking hypoesthesia, impaired deep sensation both LLs; no electrical motor and sensory response distally both LLs; no electrical sensory response distally both ULs; normal electrical motor response distally both ULs" "" "" "" "" "" "" "" "" "CMT2EE" "Charcot-Marie-Tooth disease" "" "0000296450" "05113" "00403693" "00435" "Familial, autosomal recessive" "19y" "normal pregnancy and delivery, normal developmental milestones; 12y-progressive distal weakness both upper and lower limbs, wasting muscles hands and feet; 13y-decreased sensation distal parts limbs; frequent trauma feet due to insensitivity to pain; suggestive autonomic manifestation frequent swelling of feet; 14y-foot deformity, high arched; walks with mild support; bilateral pes cavus; muscle wasting small muscles hands, anterior tibial group, dorsal feet muscles; distal hypotonia around wrist, fingers, ankles, toe; muscle power hand grip grade 3-4; dorsiflexors toes and ankles grade 0, planter flexors of toes and ankles grade 0-1, knee and hip flexors and extensors grade 4; bilateral loss deep reflexes ULs and LLs; lost abdominal reflexes, no response planter bilaterally, stocking and glove hypothesia, lost deep sensation both LLs; positive Romberg’s sign; thickened peroneal nerves bilterally; no electrical response distally from LLs, axonal neuropathy upper limbs" "" "" "" "" "" "" "" "" "CMT2EE" "Charcot-Marie-Tooth disease" "" "0000296458" "05113" "00403759" "00435" "Familial, autosomal recessive" "13y" "normal pregnancy and delivery, normal developmental milestones; 11y-progressive distal weakness both upper and lower limbs, pain distal parts limbs involving toes and fingers; 12y-toe deformity, hammer toes; walks without support; bilateral pes cavus; muscle wasting small muscles hands, anterior tibial group, dorsal feet muscles; distal hypotonia around wrist, fingers, ankles, toes; normal muscle power both upper limbs; dorsiflexors toes and ankles grade 0, planter flexors toes and ankles grade 2-3; bilateral loss deep reflexes ULs and LLs; lost abdominal reflexes, bilateral planter no response, stocking and glove hypothesia, lost vibration both LLs." "" "" "" "" "" "" "" "" "CMT2EE" "Charcot-Marie-Tooth disease" "" "0000346312" "00198" "00457805" "04767" "Isolated (sporadic)" "00y03m" "3m-yellow sclera, chronic disease, physical examination: moderate yellow sclera, liver rib 2cm, medium texture; laboratory examination indicated: liver enzymes, elevated bilirubin, coagulation dysfunction, hypoglycemia, hypoproteinemia, hyperlactaemia. Fresh frozen plasma, prothrombin complex, and cryoprecipitate treatment showed poor improvement in coagulation function, repeated hypoglycemia, separation of liver function bile enzymes, and gastrointestinal manifestations such as diarrhea and feeding difficulties" "" "" "" "" "" "" "" "" "" "NICCD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000004448" "00004533" "1" "00634" "00634" "2014-01-30 15:29:40" "" "" "MLPA;SEQ" "DNA" "Blood" "" "0000036268" "00036198" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000080917" "00080805" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000144531" "00143674" "1" "02179" "02179" "2017-12-01 21:02:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000144532" "00143675" "1" "02179" "02179" "2017-12-01 21:16:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000144533" "00143676" "1" "02179" "02179" "2017-12-01 21:22:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000144535" "00143678" "1" "02179" "02179" "2017-12-01 21:35:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000144536" "00143679" "1" "02179" "02179" "2017-12-01 21:40:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000144537" "00143680" "1" "02179" "02179" "2017-12-01 21:44:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000144538" "00143681" "1" "02179" "02179" "2017-12-01 21:49:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000144539" "00143682" "1" "02179" "02179" "2017-12-01 21:53:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000165334" "00164466" "1" "02486" "02486" "2018-05-23 11:41:41" "" "" "SEQ" "DNA" "" "" "0000165335" "00164467" "1" "02486" "02486" "2018-05-23 11:51:19" "" "" "SEQ" "DNA" "" "" "0000289396" "00288227" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood, fibroblast" "WES" "0000308586" "00307447" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000308596" "00307457" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000397263" "00396023" "1" "00006" "00006" "2021-12-11 16:17:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404932" "00403695" "1" "00435" "00435" "2022-02-21 00:59:55" "" "" "SEQ-NG" "DNA" "blood" "" "0000404986" "00403694" "1" "00006" "00006" "2022-02-21 14:25:49" "" "" "SEQ-NG" "DNA" "" "" "0000404987" "00403633" "1" "00006" "00006" "2022-02-21 14:53:54" "" "" "SEQ-NG" "DNA" "" "" "0000404988" "00403749" "1" "00006" "00006" "2022-02-21 14:56:34" "" "" "SEQ-NG" "DNA" "" "" "0000404989" "00403750" "1" "00006" "00006" "2022-02-21 14:58:52" "" "" "SEQ-NG" "DNA" "" "" "0000404990" "00403693" "1" "00006" "00006" "2022-02-21 15:11:56" "" "" "SEQ-NG" "DNA" "" "" "0000404998" "00403759" "1" "00006" "00006" "2022-02-21 16:11:12" "" "" "SEQ-NG" "DNA" "" "" "0000459426" "00457805" "1" "04767" "04767" "2024-11-19 14:30:55" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000004448" "MPV17" "0000036268" "MPV17" "0000080917" "MPV17" "0000144531" "MPV17" "0000144532" "MPV17" "0000144533" "MPV17" "0000144535" "MPV17" "0000144536" "MPV17" "0000144537" "MPV17" "0000144538" "MPV17" "0000144539" "MPV17" "0000165334" "MPV17" "0000165335" "MPV17" "0000289396" "MPV17" "0000308586" "MPV17" "0000308596" "MPV17" "0000404932" "MPV17" "0000459426" "MPV17" ## 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 = 46 "{{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}}" "0000023429" "3" "95" "2" "27532360" "27535976" "del" "0" "00634" "MPV17_000001" "g.(?_27532360)_(27535976_?)del" "" "Uusimaa et al. 2014, EJHG, 22, 182-191" "" "exon 3-8 deletion" "" "Germline" "yes" "" "0" "" "" "g.27309492_27313109del" "" "pathogenic" "" "0000063393" "1" "90" "2" "27535457" "27535457" "dup" "0" "01164" "MPV17_000002" "g.27535457dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27312590dup" "" "pathogenic" "" "0000130001" "21" "90" "2" "27535899" "27535899" "subst" "1.21827E-5" "01758" "MPV17_000003" "g.27535899G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.27313032G>A" "" "pathogenic" "ACMG" "0000130002" "11" "70" "2" "27535457" "27535457" "dup" "0" "01758" "MPV17_000002" "g.27535457dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.27312590dup" "" "likely pathogenic" "ACMG" "0000235000" "0" "90" "2" "27535551" "27535551" "subst" "0" "02179" "MPV17_000011" "g.27535551T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27312684T>C" "" "pathogenic" "" "0000235001" "3" "90" "2" "27535457" "27535457" "dup" "0" "02179" "MPV17_000002" "g.27535457dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27312590dup" "" "pathogenic" "" "0000235002" "3" "90" "2" "27535452" "27535452" "subst" "4.06194E-6" "02179" "MPV17_000010" "g.27535452C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27312585C>T" "" "pathogenic" "" "0000235003" "0" "90" "2" "27534767" "27534767" "subst" "0" "02179" "MPV17_000004" "g.27534767C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27311899C>A" "" "pathogenic" "" "0000235004" "0" "90" "2" "27535439" "27535439" "subst" "0" "02179" "MPV17_000007" "g.27535439A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27312572A>C" "" "pathogenic" "" "0000235005" "0" "90" "2" "27535446" "27535446" "del" "0" "02179" "MPV17_000008" "g.27535446del" "" "" "" "293delC" "" "Germline" "" "" "0" "" "" "g.27312579del" "" "pathogenic" "" "0000235006" "0" "90" "2" "27535116" "27535116" "subst" "0" "02179" "MPV17_000006" "g.27535116T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27312248T>G" "" "pathogenic" "" "0000235007" "0" "90" "2" "27535115" "27535115" "subst" "0" "02179" "MPV17_000005" "g.27535115C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27312247C>T" "" "pathogenic" "" "0000235008" "0" "90" "2" "27535968" "27535978" "del" "0" "02179" "MPV17_000012" "g.27535968_27535978delinsN[4]" "" "" "" "" "incomplete HGVS description, ins4 needs to be specified" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000282577" "0" "10" "2" "27535313" "27535313" "dup" "0" "02325" "MPV17_000013" "g.27535313dup" "" "" "" "MPV17(NM_002437.5):c.375+49dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27312446dup" "" "benign" "" "0000286645" "0" "70" "2" "27535635" "27535635" "subst" "7.31684E-5" "02326" "MPV17_000014" "g.27535635G>C" "" "" "" "MPV17(NM_002437.5):c.191C>G (p.P64R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27312768G>C" "" "likely pathogenic" "" "0000314825" "0" "30" "2" "27528980" "27528980" "subst" "0.00039439" "02326" "TRIM54_000004" "g.27528980C>T" "" "" "" "TRIM54(NM_032546.4):c.992+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27306112C>T" "" "likely benign" "" "0000368996" "3" "70" "2" "27535925" "27535925" "subst" "1.62429E-5" "02486" "MPV17_000015" "g.27535925C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27313058C>T" "" "likely pathogenic" "" "0000368997" "3" "70" "2" "27535123" "27535123" "subst" "1.2183E-5" "02486" "MPV17_000016" "g.27535123A>C" "" "" "" "" "in-frame deletion of 11 amino acids due to exon skipping (evidence on transcript level)" "Germline" "" "" "0" "" "" "g.27312255A>C" "" "likely pathogenic" "" "0000515541" "0" "30" "2" "27528600" "27528600" "dup" "0" "01804" "MPV17_000017" "g.27528600dup" "" "" "" "TRIM54(NM_032546.3):c.883_884insA (p.(Tyr295Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27305732dup" "" "likely benign" "" "0000515542" "0" "30" "2" "27535883" "27535883" "subst" "8.12183E-5" "01804" "MPV17_000018" "g.27535883A>G" "" "" "" "MPV17(NM_002437.4):c.164T>C (p.(Val55Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27313016A>G" "" "likely benign" "" "0000515543" "0" "50" "2" "27549748" "27549748" "subst" "0" "01943" "MPV17_000019" "g.27549748G>T" "" "" "" "GTF3C2(NM_001318909.1):c.2563C>A (p.P855T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27326881G>T" "" "VUS" "" "0000607888" "0" "30" "2" "27549576" "27549576" "subst" "4.06385E-6" "01943" "MPV17_000020" "g.27549576G>A" "" "" "" "GTF3C2(NM_001318909.1):c.2735C>T (p.S912F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27326709G>A" "" "likely benign" "" "0000645325" "11" "70" "2" "27535123" "27535123" "subst" "1.2183E-5" "00006" "MPV17_000016" "g.27535123A>C" "" "{PMID:Lee 2019:31607746}" "" "" "exon skipping" "Germline" "" "" "0" "" "" "g.27312255A>C" "{CV:000863436.1}" "likely pathogenic (recessive)" "" "0000645336" "21" "90" "2" "27535620" "27535620" "subst" "8.12698E-6" "00006" "MPV17_000021" "g.27535620C>T" "" "{PMID:Lee 2019:31607746}" "" "" "" "Germline" "" "" "0" "" "" "g.27312753C>T" "{CV:000863435.1}" "pathogenic (recessive)" "" "0000682987" "3" "70" "2" "27535548" "27535548" "subst" "0" "00006" "MPV17_000023" "g.27535548T>G" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000682997" "3" "50" "2" "27535443" "27535443" "subst" "5.68574E-5" "00006" "MPV17_000022" "g.27535443G>A" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000718726" "0" "90" "2" "27535925" "27535925" "subst" "1.62429E-5" "02325" "MPV17_000015" "g.27535925C>T" "" "" "" "MPV17(NM_002437.5):c.122G>A (p.R41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000829119" "3" "70" "2" "27535925" "27535925" "subst" "1.62429E-5" "00006" "MPV17_000015" "g.27535925C>T" "" "{PMID:Ababneh 2021:34624274}" "" "" "" "Germline" "" "rs140992482" "0" "" "" "g.27313058C>T" "" "likely pathogenic (recessive)" "" "0000840901" "3" "90" "2" "27535925" "27535925" "subst" "1.62429E-5" "00435" "MPV17_000024" "g.27535925C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.27313058C>T" "" "pathogenic (recessive)" "" "0000840963" "3" "90" "2" "27535925" "27535925" "subst" "1.62429E-5" "00435" "MPV17_000015" "g.27535925C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.27313058C>T" "" "pathogenic (recessive)" "" "0000840964" "3" "90" "2" "27535925" "27535925" "subst" "1.62429E-5" "00435" "MPV17_000015" "g.27535925C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.27313058C>T" "" "pathogenic (recessive)" "" "0000840965" "3" "90" "2" "27535925" "27535925" "subst" "1.62429E-5" "00435" "MPV17_000015" "g.27535925C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.27313058C>T" "" "pathogenic (recessive)" "" "0000840966" "3" "90" "2" "27535925" "27535925" "subst" "1.62429E-5" "00435" "MPV17_000015" "g.27535925C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.27313058C>T" "" "pathogenic (recessive)" "" "0000840976" "3" "90" "2" "27535925" "27535925" "subst" "1.62429E-5" "00435" "MPV17_000015" "g.27535925C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.27313058C>T" "" "pathogenic (recessive)" "" "0000840977" "3" "90" "2" "27535925" "27535925" "subst" "1.62429E-5" "00435" "MPV17_000015" "g.27535925C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.27313058C>T" "" "pathogenic (recessive)" "" "0000849845" "0" "30" "2" "27545358" "27545358" "subst" "0.000902615" "02326" "MPV17_000026" "g.27545358C>A" "" "" "" "MPV17(NM_002437.5):c.27G>T (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858477" "0" "30" "2" "27529381" "27529381" "subst" "4.13511E-5" "01804" "MPV17_000025" "g.27529381C>T" "" "" "" "TRIM54(NM_032546.3):c.1175C>T (p.(Pro392Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885111" "0" "30" "2" "27529106" "27529106" "subst" "0.000190967" "01804" "MPV17_000027" "g.27529106C>G" "" "" "" "TRIM54(NM_032546.3):c.1018C>G (p.(Leu340Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885112" "0" "10" "2" "27545358" "27545358" "subst" "0.000902615" "02330" "MPV17_000026" "g.27545358C>A" "" "" "" "MPV17(NM_002437.5):c.27G>T (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911680" "0" "50" "2" "27527897" "27527897" "subst" "0.000403012" "01804" "MPV17_000028" "g.27527897T>G" "" "" "" "TRIM54(NM_032546.3):c.710T>G (p.(Met237Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947824" "0" "30" "2" "27532768" "27532768" "subst" "0.000923335" "02330" "MPV17_000029" "g.27532768A>C" "" "" "" "MPV17(NM_002437.5):c.*12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962062" "0" "70" "2" "27535123" "27535123" "subst" "1.2183E-5" "02330" "MPV17_000016" "g.27535123A>C" "" "" "" "MPV17(NM_002437.5):c.376-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001017450" "21" "70" "2" "27535366" "27535366" "subst" "0" "04767" "MPV17_000030" "g.27535366G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27312499G>A" "" "likely pathogenic" "" "0001033249" "0" "50" "2" "27528522" "27528522" "subst" "0" "01804" "MPV17_000031" "g.27528522G>A" "" "" "" "TRIM54(NM_187841.3):c.680G>A (p.(Arg227His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033250" "0" "70" "2" "27534800" "27534812" "del" "0" "01804" "MPV17_000032" "g.27534800_27534812del" "" "" "" "MPV17(NM_002437.5):c.416_428del (p.(Pro139Glnfs*75))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033251" "0" "50" "2" "27535101" "27535101" "subst" "0" "01804" "MPV17_000033" "g.27535101G>A" "" "" "" "MPV17(NM_002437.5):c.389C>T (p.(Ala130Val))" "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 MPV17 ## Count = 46 "{{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}}" "0000023429" "00013812" "95" "71" "-1" "951" "1" "c.71-?_*420+?del" "r.?" "p.?" "2i_8_" "0000063393" "00013812" "90" "284" "0" "284" "0" "c.284dup" "r.(?)" "p.(Phe96Leufs*17)" "" "0000130001" "00013812" "90" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Trp)" "" "0000130002" "00013812" "70" "284" "0" "284" "0" "c.284dup" "r.(?)" "p.(Phe96Leufs*17)" "" "0000235000" "00013812" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asp92Gly)" "4" "0000235001" "00013812" "90" "284" "0" "284" "0" "c.284dup" "r.(?)" "p.(Phe96Leufs*17)" "5" "0000235002" "00013812" "90" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Gly95Asp)" "5" "0000235003" "00013812" "90" "461" "0" "461" "0" "c.461G>T" "r.spl?" "p.(Arg154Met)" "7" "0000235004" "00013812" "90" "297" "0" "297" "0" "c.297T>G" "r.(?)" "p.(Cys99Trp)" "5" "0000235005" "00013812" "90" "293" "0" "293" "0" "c.293del" "r.(?)" "p.(Pro98Argfs*4)" "5" "0000235006" "00013812" "90" "376" "-2" "376" "-2" "c.376-2A>C" "r.spl" "p.?" "5i" "0000235007" "00013812" "90" "376" "-1" "376" "-1" "c.376-1G>A" "r.spl" "p.?" "5i" "0000235008" "00013812" "90" "71" "-2" "79" "0" "c.71-2_79delins(4)" "r.spl" "p.?" "2i_3" "0000282577" "00013812" "10" "375" "49" "375" "49" "c.375+49dup" "r.(=)" "p.(=)" "" "0000286645" "00013812" "70" "191" "0" "191" "0" "c.191C>G" "r.(?)" "p.(Pro64Arg)" "" "0000314825" "00013812" "30" "4331" "0" "4331" "0" "c.*3800G>A" "r.(=)" "p.(=)" "" "0000368996" "00013812" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000368997" "00013812" "70" "376" "-9" "376" "-9" "c.376-9T>G" "r.(376_408del)" "p.(Asp126_Tyr136del)" "5i" "0000515541" "00013812" "30" "4711" "0" "4711" "0" "c.*4180dup" "r.(?)" "p.(=)" "" "0000515542" "00013812" "30" "164" "0" "164" "0" "c.164T>C" "r.(?)" "p.(Val55Ala)" "" "0000515543" "00013812" "50" "-3835" "0" "-3835" "0" "c.-3835C>A" "r.(?)" "p.(=)" "" "0000607888" "00013812" "30" "-3663" "0" "-3663" "0" "c.-3663C>T" "r.(?)" "p.(=)" "" "0000645325" "00013812" "70" "376" "-9" "376" "-9" "c.376-9T>G" "r.376_408del" "p.(=)" "" "0000645336" "00013812" "90" "206" "0" "206" "0" "c.206G>A" "r.206g>a" "p.(Trp69*)" "" "0000682987" "00013812" "70" "278" "0" "278" "0" "c.278A>C" "r.(?)" "p.(Gln93Pro)" "" "0000682997" "00013812" "50" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Pro98Leu)" "" "0000718726" "00013812" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000829119" "00013812" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000840901" "00013812" "90" "122" "0" "122" "0" "c.122G>A" "r.(122g>a)" "p.(Arg41Gln)" "3" "0000840963" "00013812" "90" "122" "0" "122" "0" "c.122G>A" "r.(122g>a)" "p.(Arg41Gln)" "" "0000840964" "00013812" "90" "122" "0" "122" "0" "c.122G>A" "r.(122g>a)" "p.(Arg41Gln)" "" "0000840965" "00013812" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000840966" "00013812" "90" "122" "0" "122" "0" "c.122G>A" "r.(122g>a)" "p.(Arg41Gln)" "" "0000840976" "00013812" "90" "122" "0" "122" "0" "c.122G>A" "r.(122g>a)" "p.(Arg41Gln)" "" "0000840977" "00013812" "90" "122" "0" "122" "0" "c.122G>A" "r.(122g>a)" "p.(Arg41Gln)" "" "0000849845" "00013812" "30" "27" "0" "27" "0" "c.27G>T" "r.(?)" "p.(Arg9=)" "" "0000858477" "00013812" "30" "3930" "0" "3930" "0" "c.*3399G>A" "r.(=)" "p.(=)" "" "0000885111" "00013812" "30" "4205" "0" "4205" "0" "c.*3674G>C" "r.(=)" "p.(=)" "" "0000885112" "00013812" "10" "27" "0" "27" "0" "c.27G>T" "r.(?)" "p.(Arg9=)" "" "0000911680" "00013812" "50" "5414" "0" "5414" "0" "c.*4883A>C" "r.(=)" "p.(=)" "" "0000947824" "00013812" "30" "543" "0" "543" "0" "c.*12T>G" "r.(=)" "p.(=)" "" "0000962062" "00013812" "70" "376" "-9" "376" "-9" "c.376-9T>G" "r.(=)" "p.(=)" "" "0001017450" "00013812" "70" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Gln124*)" "5" "0001033249" "00013812" "50" "4789" "0" "4789" "0" "c.*4258C>T" "r.(=)" "p.(=)" "" "0001033250" "00013812" "70" "416" "0" "428" "0" "c.416_428del" "r.(?)" "p.(Pro139Glnfs*75)" "" "0001033251" "00013812" "50" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Ala130Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000004448" "0000023429" "0000036268" "0000063393" "0000080917" "0000130001" "0000080917" "0000130002" "0000144531" "0000235000" "0000144532" "0000235001" "0000144533" "0000235002" "0000144535" "0000235004" "0000144536" "0000235005" "0000144537" "0000235006" "0000144538" "0000235007" "0000144539" "0000235008" "0000165334" "0000368996" "0000165335" "0000368997" "0000289396" "0000645325" "0000289396" "0000645336" "0000308586" "0000682987" "0000308596" "0000682997" "0000397263" "0000829119" "0000404932" "0000840901" "0000404986" "0000840963" "0000404987" "0000840964" "0000404988" "0000840965" "0000404989" "0000840966" "0000404990" "0000840976" "0000404998" "0000840977" "0000459426" "0001017450"