### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAPKAPK5) # 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}}" "MAPKAPK5" "mitogen-activated protein kinase-activated protein kinase 5" "12" "q24.13" "unknown" "NC_000012.11" "UD_136088370780" "" "https://www.LOVD.nl/MAPKAPK5" "" "1" "6889" "8550" "606723" "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/MAPKAPK5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-07-24 16:12:24" "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}}" "00025840" "MAPKAPK5" "transcript variant 1" "002" "NM_003668.3" "" "NP_003659.2" "" "" "" "-506" "1779" "1416" "112280032" "112331228" "00006" "2023-07-24 15:35:03" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07016" "NCFD" "neurocardiofaciodigital syndrome" "AR" "619869" "" "" "" "00006" "2023-07-24 14:33:37" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MAPKAPK5" "05611" "MAPKAPK5" "07016" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00414273" "" "" "" "1" "" "02190" "{PMID:Maroofian 2023:36581449}" "4-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "Pat1" "00414274" "" "" "" "1" "" "02190" "{PMID:Maroofian 2023:36581449}" "5-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "Egypt" "" "0" "" "" "" "Pat3" "00414278" "" "" "" "1" "" "02190" "{PMID:Maroofian 2023:36581449}" "4-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Palestine" "" "0" "" "" "Arab" "Pat2" "00435412" "" "" "" "1" "" "00006" "{PMID:Horn 2021:33442026}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam2Pat1" "00435413" "" "" "" "2" "" "00006" "{PMID:Horn 2021:33442026}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "no" "Egypt" "" "0" "" "" "" "Fam1Pat1" "00435414" "" "" "00435413" "1" "" "00006" "{PMID:Horn 2021:33442026}" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "Fam1Pat2" "00435415" "" "" "" "1" "" "00006" "{PMID:Vecchio 2022:35575217}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "no" "Italy" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00414273" "05611" "00414274" "05611" "00414278" "05611" "00435412" "05611" "00435413" "05611" "00435414" "05611" "00435415" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 07016 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000325603" "05611" "00414274" "00006" "Familial, autosomal recessive" "01y11m" "oligohydraminos, incucbated for 7 days for tachypnea; 39w-brith, weight (2800gm), length (49cm), OFC (34.7cm); height 83cm (-1 SD); weight 10kg (-2SD); OFC 45.5cm (-2.3SD); hypotonia in infancy; mild failure-to-thrive; mild developmental delay, 9m-head support, 14m-sit, 1y9m-walk for 4-10 meters; no nonverbal communication (able to pronounce few words); moderate developmental dealy/ intellectual disability; not yet able to perform basic activities of daily living; no regression; no progressive course; excessive clapping hands, smiling; no seizures; EEG normal; hypotonia, reflexes present; plagiocephaly, brachycephaly, bifrontal prominent; cranio-facial asymmetry, depression over glabella, sparse eyebrows, bilateral ptosis, shorter left palpebral fissure, hypertelorism, infraorbital creases, full nasal tip, short columella, low-set ears, absent superior crus of antihelix, uplifted ear lobes, small mouth, full tented upper lip, thin lower lip vermilion, maxillary overbite, retrognathia; sparse sclap/eye brows hair, mild hypoplasitc nails; bilateral incomplete transverse palmar crease, normal fingers and nails, mild proximal syndactyly of right second and third fingers, broad big toes, short 2-5th toes, prominent sandal gap with deep groove over medial aspect second toe; mild inconsistent stramismus; no hearing loss; Immaturity of myelination (delayed- or hypo- myelination pattern) along with cerebellar vermian hypoplasia and reduced parenchymal volume in the frontal lobes; no congenital heart defects; abdominal pelvic ultra-sound showed left testis, left inguinal canal, mild left tunical hydrocele; 1d-genital anomalies, anchored phallus, shawl scrotum, absent left tesits; mild feeding difficulties" "" "" "" "" "" "" "NCFD" "neurodevelopmental delay" "0000325604" "05611" "00414273" "00006" "Familial, autosomal recessive" "04y" "decreased foetal movements, PIH in mother; birth at term; height 91cm (-2.3 SD); weight 8kg (-4.8 SD); OFC 43cm (-4.3 SD); hypotonia in infancy; failure-to-thrive; developmental delay, 18m-unsupported sitting, 30m-supported walking, speech delay (can say 2-3 words); no nonverbal communication, understands simple commands like give me; profound developmental dealy/ intellectual disability (8m at 4y); not able to perform basic activities of daily living, GMFCS level IV; speech regression; no progressive course; Aloof behaviour, abnormal hand movements and teeth grinding; no seizures; EEG normal; weakness, hypotonia, diminished reflexes, 18m-ataxia, broad based gait, dyskinetic movements; brachycephaly; sparse scalp hair, bitemporal narrowing, straight eyebrows, deep-set eyes, bilateral ptosis (right>left), epicanthic folds, triangular nose with full tip, hypoplastic nares, low-set columella, prominent medial maxillary incisors, long philtrum, full and tented upper lip, maxillary overbite, microretrognathia; hirsutism, sparse scalp hair; short index finger with absent nail and nail bed, sandal gap; bilateral hyperopia, +2.50, ptosis; mild hearing loss (below 30dB), post-ligual, bilateral sensorineural hearing loss; superior cerebellar vermian and pontine atrophy, along with cerebellar vermian hypoplasia and generalised cerebellar dysfoliation. The frontal lobe was underdeveloped with anterior callosal hypoplasia; no congenital heart defects; no renal problems; no GIT; no respiratory problems; feeding difficulties, can take semi-solids only " "" "" "" "" "" "" "NCFD" "neurodevelopmental delay" "0000325605" "05611" "00414278" "00006" "Familial, autosomal recessive" "07y08m" "normal prenatal history; born hypotonic, pale, with no respiratory effort, needed intubation; 37w-birth, weight (1825 g), OFC (28.5 cm); height 120cm (18th); weight 27.9kg (72th); OFC 50.2cm (14th); hypotonia in infancy; no failure-to-thrive; developmental delay, 30m-walk, speech delay (can say sentences yet gibberish); severe developmental dealy/ intellectual disability; not able to perform basic activities of daily living; no regression; no progressive course; no behavioural/psychiatric symptoms; no seizures; no hypotonia; brachycephaly; highly arched eyebrows with medial flaring, narrow palpebral fissures, low-set ears, low columella, small chin; hirsutism; short fingers; bilateral optic disc colobomas; astigmatism; suspected hearing loss; cerebellar vermian hypoplasia and frontal lobar underdevelopment along with hypoplasia of the anterior aspect of corpus callosum. Unspecific foci of white matter hyperintensities were also shown in the frontal lobes; 1d-normal echocardiography; no renal problems; no GIT; no respiratory problems; no feeding difficulties" "" "" "" "" "" "" "NCFD" "neurodevelopmental delay" "0000325606" "05611" "00435412" "00006" "Familial, autosomal recessive" "01y07m" "38w-birth, weight 2,600g (-1.6 SD), length 53cm (+0.8 SD), OFC 32.5cm (-1.7 SD); height 82.5cm (-0.4 SD); weight 10.8 kg (-0.6 SD); microcephaly OFC 43.5cm (-4.3 SD); no failure-to-thrive; severe developmental delay, 19m-no sitting/no speech; no seizures; EEG signs of increased seizure susceptibility in the left temporo-occipital region; 10m-profound muscular hypotonia; narrow palpebral fissures, thin lips, high arched palate, retrognathia, uplifted ear lobes, short neck, Pierre-Robin sequence (retrognathia, glossoptosis, high arched palate without cleft), short, narrow, and upslanted palpebral fissures, a small mouth with thin lips, uplifted ear lobes, a short neck, nystagmus; sparse hair; synpolydactyly with additional hypoplastic ray between fourth and fifth digit right foot; cataracts, sclerocornea, nystagmus; bilateral sensorineural hearing loss; thin corpus callosum; complex congenital heart defect including double inlet left ventricle and malposition of great arteries; hypospadias" "" "" "" "" "" "" "NCFD" "neurodevelopmental delay" "0000325607" "05611" "00435413" "00006" "Familial, autosomal recessive" "09y" "intrauterine growth retardation, tetralogy of Fallot; 40w-birth, weight 2,200g (-2.71 SD), length 48 cm (-0.65 SD), OFC 32 cm (−1.9 SD); postnatal short stature, height 112.5cm (-3.49 SD); failure to thrive, weight 16kg (-7.03 SD); OFC 51 cm (-0.68 SD); failure-to-thrive; severe developmental delay, 9y-no walking, 9y-speech one word; no seizures; EEG abnormal findings consistent with generalized epileptogenic discharge of left side origin; bitemporal narrowing, prominent forehead; sparse hair, narrow palpebral fissures, prominent overhanging nasal tip, thin lips, retromicrognathia; synpolydactyly with additional hypoplastic ray between fourth and fifth digits, all extremities are affected, X-ray showed duplication middle and terminal phalanges right fifth finger and duplication terminal phalanx left fifth finger and extra hypoplastic metatarsal and extra phalanx between fourth and fifth toes; Pallor optic disc, postvisual pathway dysfunction; moderate loss of hearing in high frequency range; cerebellar vermian hypoplasia, Frontal underdevelopment; Tetralogy of Fallot; no renal problems; no GIT; no respiratory problems" "" "" "" "" "" "" "NCFD" "neurodevelopmental delay" "0000325608" "05611" "00435414" "00006" "Familial, autosomal recessive" "02y07m" "36w-birth, weight 2,200g; postnatal short stature, height 76 cm (-3.85 SD); failure to thrive, weight 10kg (-2.41 SD); microcephaly OFC 44cm (-2.71 SD); failure-to-thrive; severe developmental delay, 2y7m-no head control/no speech; no seizures; EEG generalized abnormality; bitemporal narrowing, prominent forehead; sparse hair, narrow palpebral fissures, prominent overhanging nasal tip, thin lips, retromicrognathia, low-set simple ears; hypoplastic nails; overlapping fingers, hypoplastic nails; nystagmus; cavum septum pellucidum, thin corpus callosum, cerebellar vermian hypoplasia; congenital heart defects, patent ductus arteriosu, atrial septal defect; hydroureteronephrosis, vesicoureteral reflux" "" "" "" "" "" "" "NCFD" "neurodevelopmental delay" "0000325609" "05611" "00435415" "00006" "Familial, autosomal recessive" "01y07m" "20w- fetal scan showed prefrontal edema, nasal bone hypoplasia, increased nuchal translucency, suspicious of aortic coarctation and ambiguous genitalia, premature rupture of membranes; 34.6w-birth, weight 1980g (−1.12 SD), length 42cm (−1.75 SD), OFC 30.5cm (0.1 SD); height 80 cm (−1.03 SD); Failure to thrive, weight 8,33 (−2.47 SD); microcephaly OFC 46.5cm (−1.76 SD); no failure-to-thrive; severe developmental delay, no walking, no speech, only sitting position acquired; severe developmental dealy/ intellectual disability; no seizures; EEG slow posterior activity and poor representation of the NREM sleep graph-elements; brachyturricephaly; narrow, and slightly downslanted, narrow palpebral fissures, hypoplastic nasal root, bulbous prominent overhanging nasal tip, small mouth with thin lips, arched palate, glossoptosis, retrognathia in Pierre-Robin sequence; sparse hair/eyebrows, toenail hypoplasia/dysplasia; short fingers, broad big toes, marked toenail hypoplasia/dysplasia; mild strabismus; no hearing loss; thin corpus callosum, mild vermian and ventral pons hypoplasia, olfactory bulbs absent.; congenital heart defects, intercoronary partially fused - bicuspid aortic valve, slight ascending aorta\'s dilation, hypertrabecular left ventricle and a dysmorphic aortic arch with mild acceleration flow; left kidney hypoplasia, right cryptorchidism with ipsilateral hemiscrotum\'s hypoplasia, penoscrotal transposition, coronal hypospadias; feeding difficulties" "" "" "" "" "" "" "NCFD" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000415553" "00414273" "1" "02190" "02190" "2022-07-28 12:39:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000415554" "00414274" "1" "02190" "02190" "2022-07-28 12:44:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000415558" "00414278" "1" "02190" "02190" "2022-07-28 12:47:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000436892" "00435412" "1" "00006" "00006" "2023-07-24 15:57:42" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000436893" "00435413" "1" "00006" "00006" "2023-07-24 16:01:48" "" "" "arraySNP;SEQ-NG" "DNA" "" "WES" "0000436894" "00435414" "1" "00006" "00006" "2023-07-24 16:04:47" "" "" "arraySNP;SEQ-NG" "DNA" "" "WES" "0000436895" "00435415" "1" "00006" "00006" "2023-07-24 16:09:09" "" "" "SEQ-NG" "DNA" "" "we" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 13 "{{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}}" "0000873357" "3" "90" "12" "112321395" "112321395" "del" "0" "02190" "MAPKAPK5_000001" "g.112321395del" "" "{PMID:Maroofian 2023:36581449}" "" "" "ACMG PP5, PVS1, PM2" "Germline" "" "" "0" "" "" "g.111883591del" "" "pathogenic (recessive)" "ACMG" "0000873358" "3" "70" "12" "112306592" "112306592" "subst" "0" "02190" "MAPKAPK5_000002" "g.112306592G>T" "" "{PMID:Maroofian 2023:36581449}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.111868788G>T" "" "likely pathogenic (recessive)" "ACMG" "0000873365" "3" "90" "12" "112327930" "112327930" "subst" "0" "02190" "MAPKAPK5_000003" "g.112327930C>T" "" "{PMID:Maroofian 2023:36581449}" "" "" "ACMG PP5, PVS1, PM2" "Germline" "" "" "0" "" "" "g.111890126C>T" "" "pathogenic (recessive)" "ACMG" "0000931570" "3" "90" "12" "112326399" "112326399" "dup" "0" "00006" "MAPKAPK5_000004" "g.112326399dup" "" "{PMID:Horn 2021:33442026}" "" "1077dupT" "ACMG PP5, PVS1, PM2" "Germline" "" "" "0" "" "" "g.111888595dup" "" "pathogenic (recessive)" "ACMG" "0000931571" "3" "90" "12" "112305396" "112305397" "dup" "0" "00006" "MAPKAPK5_000005" "g.112305396_112305397dup" "" "{PMID:Horn 2021:33442026}" "" "207_208dupTG" "ACMG PP5, PVS1, PM2" "Germline" "yes" "" "0" "" "" "g.111867592_111867593dup" "" "pathogenic (recessive)" "ACMG" "0000931572" "3" "90" "12" "112305396" "112305397" "dup" "0" "00006" "MAPKAPK5_000005" "g.112305396_112305397dup" "" "{PMID:Horn 2021:33442026}" "" "207_208dupTG" "ACMG PP5, PVS1, PM2" "Germline" "yes" "" "0" "" "" "g.111867592_111867593dup" "" "pathogenic (recessive)" "ACMG" "0000931573" "3" "90" "12" "112326768" "112326768" "subst" "0" "00006" "MAPKAPK5_000006" "g.112326768C>T" "" "{PMID:Vecchio 2022:35575217}" "" "" "ACMG PP5, PVS1, PM2" "Germline" "" "" "0" "" "" "g.111888964C>T" "" "pathogenic (recessive)" "ACMG" "0000980004" "0" "30" "12" "112306623" "112306623" "subst" "0.000186483" "01804" "MAPKAPK5_000007" "g.112306623C>T" "" "" "" "MAPKAPK5(NM_001371484.1):c.253C>T (p.(Pro85Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980005" "0" "50" "12" "112308076" "112308076" "subst" "0" "01804" "MAPKAPK5_000008" "g.112308076T>C" "" "" "" "MAPKAPK5(NM_003668.4):c.395T>C (p.(Ile132Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980006" "0" "50" "12" "112308111" "112308111" "subst" "0.000898454" "01804" "MAPKAPK5_000009" "g.112308111A>C" "" "" "" "MAPKAPK5(NM_003668.4):c.430A>C (p.(Ile144Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980007" "0" "50" "12" "112321569" "112321569" "subst" "0.000224164" "01804" "MAPKAPK5_000010" "g.112321569G>A" "" "" "" "MAPKAPK5(NM_003668.4):c.845G>A (p.(Arg282Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980008" "0" "50" "12" "112326725" "112326725" "subst" "0" "01804" "MAPKAPK5_000011" "g.112326725T>G" "" "" "" "MAPKAPK5(NM_003668.4):c.1137T>G (p.(His379Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038950" "0" "30" "12" "112308880" "112308880" "dup" "0" "01804" "MAPKAPK5_000012" "g.112308880dup" "" "" "" "MAPKAPK5(NM_003668.4):c.484-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MAPKAPK5 ## Count = 13 "{{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}}" "0000873357" "00025840" "90" "671" "0" "671" "0" "c.671del" "r.(?)" "p.(Leu224Cysfs*4)" "" "0000873358" "00025840" "70" "320" "0" "320" "0" "c.320G>T" "r.(?)" "p.(Gly107Val)" "" "0000873365" "00025840" "90" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Gln435*)" "" "0000931570" "00025840" "90" "1077" "0" "1077" "0" "c.1077dup" "r.(?)" "p.(Leu360Serfs*21)" "" "0000931571" "00025840" "90" "207" "0" "208" "0" "c.207_208dup" "r.(?)" "p.(Ala70Valfs*7)" "" "0000931572" "00025840" "90" "207" "0" "208" "0" "c.207_208dup" "r.(?)" "p.(Ala70Valfs*7)" "" "0000931573" "00025840" "90" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Arg394*)" "" "0000980004" "00025840" "30" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(=)" "" "0000980005" "00025840" "50" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Ile132Thr)" "" "0000980006" "00025840" "50" "430" "0" "430" "0" "c.430A>C" "r.(?)" "p.(Ile144Leu)" "" "0000980007" "00025840" "50" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282Lys)" "" "0000980008" "00025840" "50" "1137" "0" "1137" "0" "c.1137T>G" "r.(?)" "p.(His379Gln)" "" "0001038950" "00025840" "30" "484" "-9" "484" "-9" "c.484-9dup" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000415553" "0000873357" "0000415554" "0000873358" "0000415558" "0000873365" "0000436892" "0000931570" "0000436893" "0000931571" "0000436894" "0000931572" "0000436895" "0000931573"