### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CUBN)
# 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}}"	"{{allow_index_wiki}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{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}}"
"CUBN"	"cubilin (intrinsic factor-cobalamin receptor)"	"10"	"p12"	"unknown"	"NG_008967.1"	"UD_132118799766"	"{PMID:Aminoff et al. 1999:10080186}, {PMID:Tanner et al. 2003:12590260}"	""	"Finnish Disease Database <http://www.findis.org/>\r\nSee also mutation database for AMN gene <http://databases.lovd.nl/shared/genes/AMN>"	"1"	"1"	"2548"	"8029"	"602997"	"1"	"1"	"1"	"The 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.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66)."	"Genomic reference sequence: hg19 (GRCh37)"	"g"	"http://databases.lovd.nl/shared/refseq/CUBN_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00008"	"2012-08-30 00:00:00"	"00015"	"2015-11-22 15:17:56"	"00006"	"2018-03-30 12:16:31"


## 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}}"
"00000280"	"CUBN"	"cubilin (intrinsic factor-cobalamin receptor)"	"001"	"NM_001081.3"	""	"NP_001072.2"	""	""	""	"-52"	"11881"	"10872"	"17171816"	"16865965"	"00008"	"2012-08-30 16:58:42"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00034"	"MGA-1"	"anemia, megaloblastic, type 1 (MGA-1)"	"261100"	""	""	""	"00008"	"2012-08-30 15:23:15"	"00006"	"2015-12-08 23:59:30"
"00399"	"NPHS"	"nephrotic syndrome (NPHS)"	""	""	""	""	"00006"	"2014-06-06 10:05:35"	"00006"	"2015-05-29 14:22:47"
"01644"	"ASAR"	"syndrome, Alport, autosomal dominant (ASAR)"	"203780"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2018-02-16 17:27:41"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CUBN"	"00034"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{owned_by}}"	"{{statusid}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{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}}"
"00019409"	""	""	""	"1"	"00746"	"9"	"00746"	"2014-07-24 16:55:56"	"00006"	"2018-02-16 15:19:41"	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00154032"	""	""	""	"1"	"00687"	"9"	"00006"	"2018-02-19 09:42:17"	""	""	"{PMID:Lin 2014:25381091}, {DOI:Lin 2014:10.1186/1471-2369-15-175}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00019409"	"00399"
"00154032"	"01644"


## Phenotypes ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{statusid}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Pancreas/Insufficiency}}"	"{{Phenotype/Scalp/Defects}}"	"{{Phenotype/Anorectum/Anomalies}}"	"{{Phenotype/Genitals/Malformations}}"	"{{Phenotype/Hypothyroidism}}"	"{{Phenotype/Length/Stature}}"	"{{Phenotype/Malformations/Other}}"	"{{Phenotype/Biochem_param}}"	"{{Phenotype/enzyme_act}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Head/Microcephaly}}"	"{{Phenotype/Heart/Defects}}"	"{{Phenotype/Teeth/Oligodontia}}"	"{{Phenotype/Brain/Corpus_Callosum/Agenesis}}"	"{{Phenotype/Behavior/Abnormality}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Birth/OFC_at_birth_SDS}}"	"{{Phenotype/Birth/Weight}}"	"{{Phenotype/Brain_MRI}}"	"{{Phenotype/Choanal_stenosis}}"	"{{Phenotype/Bone/Age}}"	"{{Phenotype/Development/Cognition}}"	"{{Phenotype/Development/Speech/Delayed}}"	"{{Phenotype/Elbow/Dislocated}}"	"{{Phenotype/Extremities/Brachydactyly}}"	"{{Phenotype/Extremities/Epiphyses/Cone_shaped}}"	"{{Phenotype/Extremities/Nails/Small}}"	"{{Phenotype/Extremities/Phalanges/Distal/Absent_5th}}"	"{{Phenotype/Extremities/Phalanges/Distal/Prominent}}"	"{{Phenotype/Extremities/Phalanges/Hypoplasia}}"	"{{Phenotype/Extremities/Joints/Interphalangeal/Prominent}}"	"{{Phenotype/Facial/Ears/Abnormal}}"	"{{Phenotype/Facial/Ears/Tags}}"	"{{Phenotype/Facial/Mouth/Wide}}"	"{{Phenotype/Facial/Nose/Bridge}}"	"{{Phenotype/Facial/Nose/Anteverted}}"	"{{Phenotype/Facial/Philtrum/Length}}"	"{{Phenotype/Facial/Philtrum/Width}}"	"{{Phenotype/Facial/Ptosis}}"	"{{Phenotype/Facial/Eyebrows/Density}}"	"{{Phenotype/Feeding/Problems}}"	"{{Phenotype/Feeding/Problems/Duration}}"	"{{Phenotype/Feeding/Problems/Start}}"	"{{Phenotype/Infections/Recurrent}}"	"{{Phenotype/Growth}}"	"{{Phenotype/Growth/Height_SDS}}"	"{{Phenotype/Hair/Scalp}}"	"{{Phenotype/Hearing/Other}}"	"{{Phenotype/Hearing/Problems}}"	"{{Phenotype/Hypertrichosis}}"	"{{Phenotype/Hypotonia/Muscular/Generalized}}"	"{{Phenotype/Hernia/Inguinal}}"	"{{Phenotype/Intestinal/GastroEsophoegal_Reflux}}"	"{{Phenotype/Intestinal/Stenosis_Pyloric}}"	"{{Phenotype/Joint/Laxity}}"	"{{Phenotype/Malformations/Cardiac}}"	"{{Phenotype/Mouth/Cleft_palate}}"	"{{Phenotype/Intestine/Abnormality}}"	"{{Phenotype/Kidney/Anomaly}}"	"{{Phenotype/Facial/Lacrimal_Duct/Abnormality}}"	"{{Phenotype/Pectus_excavatum}}"	"{{Phenotype/Scoliosis}}"	"{{Phenotype/Seizures}}"	"{{Phenotype/Seizures/Age/Onset}}"	"{{Phenotype/Seizures/Frequency}}"	"{{Phenotype/Seizures/Type}}"	"{{Phenotype/Skin/Cutis_marmorata}}"	"{{Phenotype/Skin/Eczema}}"	"{{Phenotype/Skin/Wrinkling}}"	"{{Phenotype/Patella/Small}}"	"{{Phenotype/Vision/Astigmatism}}"	"{{Phenotype/Vision/Coloboma}}"	"{{Phenotype/Vision/Other}}"	"{{Phenotype/Vision/Problems}}"	"{{Phenotype/Enzyme/CreatineKinase}}"	"{{Phenotype/Muscle/Electromyography}}"	"{{Phenotype/Muscle/Biopsy}}"	"{{Phenotype/Teeth/Anomalies}}"	"{{Phenotype/Development/Speech}}"	"{{Phenotype/Development/Motor_skills}}"	"{{Phenotype/Age/Examined/Last}}"	"{{Phenotype/Teeth}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Severity_score}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/TSC}}"	"{{Phenotype/Diagnosis/Original}}"	"{{Phenotype/Face/Shape}}"	"{{Phenotype/Hemihypertrophy/HPO_0001528}}"	"{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}"	"{{Phenotype/Adrenal_hypoplasia/HPO_0000835}}"	"{{Phenotype/Hypercalciuria/HPO_0002150}}"	"{{Phenotype/Facial/Frontal_bossing/HPO_0002007}}"	"{{Phenotype/Facial/Nose}}"	"{{Phenotype/Arms_short/HPO_0009824}}"	"{{Phenotype/Limbs_short/HPO_0006385}}"	"{{Phenotype/Craniosynostosis/HPO_1363}}"	"{{Phenotype/Osteopenia/HPO_0000938}}"	"{{Phenotype/Epiphyses_smal/HPO_0010585}}"	"{{Phenotype/Metaphyses_irregular/HPO_0003025}}"	"{{Phenotype/Macrosomia/HPO_0001520}}"	"{{Phenotype/Macroglossia/HPO_0000158}}"	"{{Phenotype/Abdominal_wall_defect/HPO_0010866}}"	"{{Phenotype/Hypoglycemia/HPO_0001943}}"	"{{Phenotype/Tumor}}"	"{{Phenotype/Karyotype}}"	"{{Phenotype/Organomegaly}}"	"{{Phenotype/Heart/Abnormality}}"	"{{Phenotype/Eyelid/Naevus_flammeus/HPO_0010733}}"	"{{Phenotype/Fever_episodic/HPO_0001954}}"	"{{Phenotype/Dehydration/HPO_0001944}}"	"{{Phenotype/Cyanosis/HPO_0000961}}"	"{{Phenotype/Swallowing_poor/HPO_0002015}}"	"{{Phenotype/Camptodactyly/HPO_0012385}}"	"{{Phenotype/Cheeks_full/HPO_0000293}}"	"{{Phenotype/Foot_abnormality/HPO_0001760}}"	"{{Phenotype/Palate_high/HPO_0000218}}"	"{{Phenotype/Sweating/Cold_induced}}"	"{{Phenotype/Contractures/Joints_large/HPO_0005781}}"	"{{Phenotype/Development_delay_global/HPO_0001263}}"	"{{Phenotype/Neuropathy_peripheral/HPO_0009830}}"	"{{Phenotype/Tumor/IHC}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Family/Criteria}}"	"{{Phenotype/Family/History}}"	"{{Phenotype/BleedingScore}}"	"{{Phenotype/BleedingScore/Tool}}"	"{{Phenotype/Sub_type}}"	"{{Phenotype/Iron/Hepatic_elevated/HPO_0012465}}"	"{{Phenotype/Hand/Small/HPO_0200055}}"	"{{Phenotype/Hypermobility}}"	"{{Phenotype/Obesity/HPO_0001513}}"	"{{Phenotype/Intellectual_dis/HPO_0001249}}"	"{{Phenotype/Puberty}}"	"{{Phenotype/AmnioticFluid/Abnormality/HPO_0001560}}"	"{{Phenotype/Placentomegaly}}"	"{{Phenotype/Prenatal}}"	"{{Phenotype/Birth/Length}}"	"{{Phenotype/Hirsutism/Forehead/HPO_0011335}}"	"{{Phenotype/Blepharophimosis/HPO_0000581}}"	"{{Phenotype/Facial/Lips}}"	"{{Phenotype/Facial/Micrognathia/HPO_0000347}}"	"{{Phenotype/Neck/Webbed/HPO_0000465}}"	"{{Phenotype/Laryngomalacia/HPO_0001601}}"	"{{Phenotype/Thorax/Bell_shaped/HPO_0001591}}"	"{{Phenotype/Ribs/Coat_hanger/HPO_0006665}}"	"{{Phenotype/Diastasis_recti/HPO_0001540}}"	"{{Phenotype/Hip/Coxa_valga/HPO_0002673}}"	"{{Phenotype/Orbits/Shallow/HPO_0000586}}"	"{{Phenotype/Ossification/Ectopic/HPO_0011986}}"	"{{Phenotype/Hair/Alopecia}}"	"{{Phenotype/Eye/Chorioretinopathy/HPO_0001145}}"	"{{Phenotype/Eye/Eyelashes}}"	"{{Phenotype/Kidney/Disease}}"	"{{Phenotype/Cysts}}"	"{{Phenotype/Aneurysm}}"	"{{Phenotype/Hypertension/HPO_0000822}}"	"{{Phenotype/Hematuria/HPO_0000790}}"	"{{Phenotype/Nephrolithiasis/HPO_0000787}}"	"{{Phenotype/Disease/Status}}"	"{{Phenotype/Kidney/Size}}"	"{{Phenotype/Dilatation}}"	"{{Phenotype/Sleep}}"	"{{Phenotype/Eye/Pupil}}"	"{{Phenotype/Umbilicus}}"	"{{Phenotype/Eye}}"	"{{Phenotype/Creatinine/Level}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Protein/F8_Ag}}"	"{{Phenotype/Protein/F8_C/Stage1}}"	"{{Phenotype/Protein/F8_C/Stage2}}"	"{{Phenotype/Protein/FAssay_ratio}}"	"{{Phenotype/Immunology/Auto_antibodies}}"	"{{Phenotype/Severity}}"	"{{Phenotype/Abnormality}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Inclusion}}"	"{{Phenotype/MRI/brain}}"	"{{Phenotype/Eye/Lens/Cataract}}"	"{{Phenotype/Head/Fontanel}}"	"{{Phenotype/Eye/Ball}}"	"{{Phenotype/Fistula}}"	"{{Phenotype/Cancer/Sub_type}}"	"{{Phenotype/BCells}}"	"{{Phenotype/BCells_surf_Ig}}"	"{{Phenotype/CD19}}"	"{{Phenotype/CD20}}"	"{{Phenotype/Immunoglobulin/IgA}}"	"{{Phenotype/Immunoglobulin/IgE}}"	"{{Phenotype/Immunoglobulin/IgG}}"	"{{Phenotype/Immunoglobulin/IgG/IgG1}}"	"{{Phenotype/Immunoglobulin/IgG/IgG2}}"	"{{Phenotype/Immunoglobulin/IgG/IgG3}}"	"{{Phenotype/Immunoglobulin/IgG/IgG4}}"	"{{Phenotype/Immunoglobulin/IgM}}"	"{{Phenotype/Enzyme/Kinase}}"	"{{Phenotype/CD3}}"	"{{Phenotype/CD4}}"	"{{Phenotype/CD8}}"	"{{Phenotype/Calcification}}"	"{{Phenotype/Ion_Homeostasis}}"	"{{Phenotype/Hormones}}"	"{{Phenotype/Vitamin}}"	"{{Phenotype/Protein/Multimer_profile}}"	"{{Phenotype/DTI_Tractography}}"	"{{Phenotype/Diagnosis/Criteria}}"	"{{Phenotype/Eye/OCT}}"	"{{Phenotype/Vision/Field}}"	"{{Phenotype/Vision/Acuity}}"	"{{Phenotype/Vision/Optic_nerve/Hypoplasia}}"	"{{Phenotype/Vision/Colour}}"	"{{Phenotype/Eye/Retina}}"	"{{Phenotype/Neoplasm}}"	"{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}"	"{{Phenotype/Asymmetry/Body}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Habits}}"	"{{Phenotype/Reproduction/Abnormal/Physiology}}"	"{{Phenotype/Testis/Abnormal}}"	"{{Phenotype/Eye/Movement}}"	"{{Phenotype/Skin}}"	"{{Phenotype/Finger_Toe/Abnormal}}"	"{{Phenotype/Urine}}"	"{{Phenotype/Hair/Pigmentation}}"	"{{Phenotype/Histology}}"
"0000126709"	"01644"	"00154032"	"00687"	"9"	"00006"	"2018-02-19 09:42:17"	""	""	"Unknown"	""	"no hearing loss (-HP:0000365); no ocular changes; 57y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Alport syndrome"	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000019394"	"00019409"	"1"	"00746"	"00746"	"2014-07-24 16:57:55"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000154893"	"00154032"	"1"	"00687"	"00006"	"2018-02-19 09:42:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000019394"	"CUBN"
"0000019394"	"NPHS1"
"0000154893"	"COL4A5"


## 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 = 37
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{mapping_flags}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{statusid}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{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}}"
"0000001701"	"0"	"99"	"10"	"17083159"	"17083159"	"subst"	"0"	"0.000153775"	"00015"	"9"	"00015"	"2012-09-07 12:07:58"	"00006"	"2018-03-30 12:15:21"	"CUBN_000001"	"g.17083159G>A"	"1/158 CON (het)"	"{PMID:Tanner et al. 2012:22929189}, {PMID:Aminoff et al. 1999:10080186}, {PMID:Tanner et al. 2004:15024727}, {dbSNP:rs121434430}"	""	"3916C>T (FM1) Finnish Major mutation"	"Finnish Major MGA1 mutation: 4 Finnish MGA1 patients, 19 Finnish MGA1 families (18 hom and 1 com-het)"	"SUMMARY record"	"yes"	"rs121434430"	"0"	""	""	"g.17041160G>A"	""
"0000001702"	"3"	"99"	"10"	"17088532"	"17088532"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-07 12:18:37"	"00006"	"2018-03-30 12:16:31"	"CUBN_000002"	"g.17088532G>C"	"0/151 CON"	"{PMID:Aminoff et al. 1999:10080186}, {PMID:Tanner et al. 2004:15024727}, {PMID:Tanner et al. 2012:22929189}"	""	"IVS23-439C>G (FM2)"	"1 Finnish MGA1 family (hom), 1 Swedish MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.17046533G>C"	""
"0000001703"	"3"	"99"	"10"	"17171122"	"17171122"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-07 12:24:37"	"00006"	"2017-05-05 19:04:32"	"CUBN_000003"	"g.17171122G>A"	""	"{PMID:Tanner et al. 2004:15024727}"	""	""	"1 Turkish MGA1 family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17129123G>A"	""
"0000001704"	"3"	"77"	"10"	"17165642"	"17165642"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-07 12:35:08"	"00006"	"2017-05-05 19:04:32"	"CUBN_000004"	"g.17165642C>T"	""	"{PMID:Tanner et al. 2004:15024727}, {PMID:Tanner et al. 2012:22929189}"	""	""	"2 Bedouin MGA1 families (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17123643C>T"	""
"0000001705"	"0"	"77"	"10"	"17147455"	"17147455"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-07 12:38:10"	"00006"	"2017-05-05 19:04:32"	"CUBN_000005"	"g.17147455C>T"	""	"{PMID:Tanner et al. 2004:15024727}"	""	""	"1 Finnish MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17105456C>T"	""
"0000001706"	"3"	"99"	"10"	"17127755"	"17127755"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-07 12:39:51"	"00006"	"2017-05-05 19:04:32"	"CUBN_000006"	"g.17127755G>A"	""	"{PMID:Tanner et al. 2004:15024727}"	""	""	"1 Turkish MGA1 family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17085756G>A"	""
"0000001707"	"21"	"99"	"10"	"16865965"	"17171816"	"del"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-07 12:43:40"	"00006"	"2017-05-05 19:04:32"	"CUBN_000007"	"g.(?_16865965)_(17171816_?)del"	""	"{PMID:Hauck et al. 2008:17668238}, {PMID:Tanner et al. 2012:22929189}"	""	"complete CUBN gene deletion"	"1 German  (com-het) and 1 Spanish MGA1 family (com-het); Hauck-1 mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	""	""
"0000001708"	"11"	"77"	"10"	"17152923"	"17152923"	"subst"	"0"	"0.0000768876"	"00015"	"9"	"00015"	"2012-09-07 12:51:05"	"00006"	"2017-05-05 19:04:32"	"CUBN_000008"	"g.17152923G>A"	""	"{PMID:Hauck et al. 2008:17668238}, {PMID:Tanner et al. 2012:22929189}"	""	""	"1 German and 2 European MGA1 families (com-het)"	"SUMMARY record"	"yes"	"rs202153130"	""	""	""	"g.17110924G>A"	""
"0000001724"	"0"	"77"	"10"	"17171119"	"17171119"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 13:28:11"	"00006"	"2017-05-05 19:04:32"	"CUBN_000009"	"g.17171119C>T"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Pakistani MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17129120C>T"	""
"0000001725"	"0"	"99"	"10"	"17061982"	"17171816"	"del"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 13:39:06"	"00006"	"2017-05-05 19:04:32"	"CUBN_000010"	"g.(?_17061982)_(17171816_?)del"	""	"{PMID:Tanner et al. 2012:22929189}"	""	"del Exons 1-28"	"1 Pakistani MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	""	""
"0000001726"	"0"	"99"	"10"	"17165587"	"17165587"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 13:56:11"	"00006"	"2017-05-05 19:04:32"	"CUBN_000011"	"g.17165587C>T"	""	"{PMID:Tanner et al. 2012:22929189}"	""	"C.489_490ins137bp; p.Gly164fs"	"1 German MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17123588C>T"	""
"0000001727"	"3"	"77"	"10"	"17157517"	"17157517"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:02:10"	"00006"	"2017-05-05 19:04:32"	"CUBN_000012"	"g.17157517A>T"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Norwegian MGA1 family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17115518A>T"	""
"0000001728"	"0"	"99"	"10"	"17153044"	"17153044"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:04:06"	"00006"	"2017-05-05 18:33:04"	"CUBN_000013"	"g.17153044G>A"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 German MGA1 patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17111045G>A"	""
"0000001730"	"0"	"99"	"10"	"17145218"	"17145218"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:06:57"	"00006"	"2017-05-05 19:04:32"	"CUBN_000015"	"g.17145218G>C"	""	"{PMID:Tanner et al. 2012:22929189}"	""	"p.Leu479*"	"1 Spanish MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17103219G>C"	""
"0000001731"	"0"	"99"	"10"	"17145128"	"17145128"	"del"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:08:18"	"00006"	"2017-05-05 19:04:32"	"CUBN_000016"	"g.17145128delC"	""	"{PMID:Tanner et al. 2012:22929189}"	""	"p.Gly509fs"	"1 Western European MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17103129delC"	""
"0000001732"	"0"	"99"	"10"	"17145124"	"17145124"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:12:19"	"00006"	"2017-05-05 19:04:32"	"CUBN_000017"	"g.17145124C>T"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 German MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17103125C>T"	""
"0000001733"	"0"	"99"	"10"	"17130272"	"17130272"	"del"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:13:57"	"00006"	"2017-05-05 19:04:32"	"CUBN_000018"	"g.17130272delC"	""	"{PMID:Tanner et al. 2012:22929189}"	""	"p.Gly613fs"	"1 Finnish MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17088273delC"	""
"0000001734"	"0"	"99"	"10"	"17130245"	"17130245"	"del"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:16:13"	"00006"	"2017-05-05 19:04:32"	"CUBN_000019"	"g.17130245delG"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Western European MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17088246delG"	""
"0000001735"	"0"	"77"	"10"	"17127755"	"17127755"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:17:55"	"00006"	"2017-05-05 19:04:32"	"CUBN_000020"	"g.17127755G>C"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Taiwan (Han) MGA1 family (het)"	"SUMMARY record"	"yes"	"rs182512508"	""	""	""	"g.17085756G>C"	""
"0000001736"	"0"	"55"	"10"	"17127638"	"17127638"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:20:01"	"00006"	"2017-05-05 19:04:32"	"CUBN_000021"	"g.17127638T>C"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Swedish MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17085639T>C"	""
"0000001737"	"0"	"77"	"10"	"17113564"	"17113564"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:21:35"	"00006"	"2017-05-05 18:33:04"	"CUBN_000022"	"g.17113564G>A"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Dutch MGA1 patient (het)"	"SUMMARY record"	""	""	""	""	""	"g.17071565G>A"	""
"0000001738"	"0"	"99"	"10"	"17113517"	"17113535"	"del"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:23:45"	"00006"	"2017-05-05 19:04:32"	"CUBN_000023"	"g.17113517_17113535del"	""	"{PMID:Tanner et al. 2012:22929189}"	""	"c.2511_2529del"	"1 English MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17071518_17071536del"	""
"0000001739"	"0"	"77"	"10"	"17113456"	"17113456"	"subst"	"0"	"0.00845763"	"00015"	"9"	"00015"	"2012-09-11 14:24:55"	"00006"	"2017-05-05 18:33:04"	"CUBN_000024"	"g.17113456C>T"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"3 MGA1 families: Albanian, Scottish and Turkish"	"SUMMARY record"	"yes"	"rs138083522"	""	""	""	"g.17071457C>T"	""
"0000001740"	"3"	"99"	"10"	"17113435"	"17113436"	"del"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:26:45"	"00006"	"2017-05-05 18:33:04"	"CUBN_000025"	"g.17113435_17113436delTC"	""	"{PMID:Tanner et al. 2012:22929189}"	""	"p.Asp872fs"	"2 Ashkenazi MGA1 patients (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17071436_17071437delTC"	""
"0000001741"	"0"	"99"	"10"	"17110722"	"17110722"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:27:55"	"00006"	"2017-05-05 19:04:32"	"CUBN_000026"	"g.17110722G>T"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Western European MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17068723G>T"	""
"0000001742"	"3"	"99"	"10"	"17110122"	"17110122"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:29:15"	"00006"	"2017-05-05 18:33:04"	"CUBN_000027"	"g.17110122G>T"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Spanish MGA1 patient  (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17068123G>T"	""
"0000001743"	"3"	"99"	"10"	"17107590"	"17107590"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:30:48"	"00006"	"2017-05-05 19:04:32"	"CUBN_000028"	"g.17107590G>C"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Algerian MGA1 family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17065591G>C"	""
"0000001744"	"0"	"99"	"10"	"17107550"	"17107550"	"del"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:32:41"	"00006"	"2017-05-05 19:04:32"	"CUBN_000029"	"g.17107550delA"	""	"{PMID:Tanner et al. 2012:22929189}"	""	"p.Thr1032*"	"1 Northern European MGA1 family (het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17065551delA"	""
"0000001746"	"3"	"77"	"10"	"17087101"	"17087101"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:37:18"	"00006"	"2017-05-05 19:04:32"	"CUBN_000031"	"g.17087101A>C"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Moroccan MGA1 family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17045102A>C"	""
"0000001747"	"0"	"77"	"10"	"17085906"	"17085906"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:38:48"	"00006"	"2017-05-05 19:04:32"	"CUBN_000032"	"g.17085906G>A"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Turkish MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17043907G>A"	""
"0000001749"	"0"	"99"	"10"	"17083050"	"17083050"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:41:14"	"00006"	"2017-05-05 19:04:32"	"CUBN_000034"	"g.17083050G>T"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 Finnish MGA1 family (het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17041051G>T"	""
"0000001750"	"3"	"77"	"10"	"17061885"	"17061885"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:42:23"	"00006"	"2017-05-05 19:04:32"	"CUBN_000035"	"g.17061885G>C"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"2 Turkish MGA1 families (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17019886G>C"	""
"0000001751"	"0"	"77"	"10"	"17061832"	"17061832"	"subst"	"0"	"0"	"00015"	"9"	"00015"	"2012-09-11 14:43:35"	"00006"	"2017-05-05 19:04:32"	"CUBN_000036"	"g.17061832C>T"	""	"{PMID:Tanner et al. 2012:22929189}"	""	""	"1 English MGA1 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.17019833C>T"	""
"0000039613"	"0"	"50"	"10"	"16967407"	"16967407"	"subst"	"0"	"0.00030755"	"00746"	"9"	"00746"	"2014-07-24 17:13:15"	"00006"	"2018-02-16 15:17:04"	"CUBN_000037"	"g.16967407T>C"	""	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.16925408T>C"	""
"0000268639"	"0"	"50"	"10"	"16873308"	"16873308"	"subst"	"33"	"0"	"02329"	"9"	"00006"	"2018-01-15 20:58:59"	"00000"	"2018-03-09 20:57:49"	"CUBN_000040"	"g.16873308T>C"	""	""	""	"CUBN:c.10471A>G (S3491G)"	"VKGL data sharing initiative Nederland; correct HGVS to be checked"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""
"0000274618"	"0"	"50"	"10"	"16873308"	"16873308"	"subst"	"33"	"0"	"01943"	"9"	"00006"	"2018-01-15 20:58:59"	"00000"	"2018-03-09 20:57:49"	"CUBN_000040"	"g.16873308T>C"	""	""	""	"CUBN:c.10471A>G (S3491G)"	"VKGL data sharing initiative Nederland; correct HGVS to be checked"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""
"0000354898"	"0"	"00"	"10"	"16916403"	"16916403"	"subst"	"0"	"0"	"00687"	"7"	"00006"	"2018-02-21 08:49:46"	""	""	"CUBN_000081"	"g.16916403G>A"	""	"{PMID:Lin 2014:25381091}, {DOI:Lin 2014:10.1186/1471-2369-15-175}"	""	"C9206T"	""	"Germline"	""	""	"0"	""	""	""	""


## 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.
## Count = 37
"{{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}}"	"{{VariantOnTranscript/PolyPhen}}"	"{{VariantOnTranscript/GVS/Function}}"	"{{VariantOnTranscript/Effect/In_Vitro}}"	"{{VariantOnTranscript/Haplotype}}"	"{{VariantOnTranscript/SIFT}}"	"{{VariantOnTranscript/PolyPhen/Score}}"	"{{VariantOnTranscript/Classification}}"	"{{VariantOnTranscript/Protein/Domain}}"	"{{VariantOnTranscript/Protein/CodonNr}}"	"{{VariantOnTranscript/Exon_old}}"	"{{VariantOnTranscript/Variant/Type}}"	"{{VariantOnTranscript/Consequence/Predicted}}"	"{{VariantOnTranscript/Screen/Method}}"	"{{VariantOnTranscript/DNA/Legacy}}"	"{{VariantOnTranscript/Protein/Legacy}}"	"{{VariantOnTranscript/FunctionalAnalysis}}"	"{{VariantOnTranscript/FunctionalAnalysis/Technique}}"	"{{VariantOnTranscript/Predict/MutationTaster}}"	"{{VariantOnTranscript/Grantham}}"	"{{VariantOnTranscript/Predict/AGVGD}}"	"{{VariantOnTranscript/Codon_change}}"	"{{VariantOnTranscript/IDbase_Accession}}"	"{{VariantOnTranscript/VariO/DNA}}"	"{{VariantOnTranscript/VariO/Protein}}"	"{{VariantOnTranscript/VariO/RNA}}"	"{{VariantOnTranscript/CpG}}"	"{{VariantOnTranscript/Enzyme/Kinase_activity}}"	"{{VariantOnTranscript/mRNA_level}}"	"{{VariantOnTranscript/Protein_level}}"	"{{VariantOnTranscript/Conservation}}"	"{{VariantOnTranscript/Predict/Splice}}"	"{{VariantOnTranscript/FunctionalPrediction}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/Protein/Stain}}"	"{{VariantOnTranscript/Predict/CADD}}"
"0000001701"	"00000280"	"99"	"3890"	"0"	"3890"	"0"	"c.3890C>T"	"r.(3890c>u)"	"p.(Pro1297Leu)"	"27"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001702"	"00000280"	"99"	"3330"	"-439"	"3330"	"-439"	"c.3330-439C>G"	"r.[3329_3330ins66, 3329_3330ins125]"	"p.0"	"23i"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001703"	"00000280"	"99"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(250c>u)"	"p.(Gln84*)"	"02"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001704"	"00000280"	"77"	"434"	"0"	"434"	"0"	"c.434G>A"	"r.(434g>a)"	"p.(Gly145Glu)"	"05"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001705"	"00000280"	"77"	"1230"	"1"	"1230"	"1"	"c.1230+1G>A"	"r.spl?"	"p.?"	"11i"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001706"	"00000280"	"99"	"1951"	"0"	"1951"	"0"	"c.1951C>T"	"r.(1951C>T)"	"p.(Arg651*)"	"16"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001707"	"00000280"	"99"	"-52"	"0"	"11881"	"0"	"c.(?_-52)_(*1009_?)del"	"r.0"	"p.0"	"01-25"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001708"	"00000280"	"77"	"1010"	"0"	"1010"	"0"	"c.1010C>T"	"r.(1010c>u)"	"p.(Pro337Leu)"	"09"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001724"	"00000280"	"77"	"252"	"1"	"252"	"1"	"c.252+1G>A"	"r.spl?"	"p.?"	"02i"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001725"	"00000280"	"99"	"0"	"0"	"0"	"0"	"c.(?_-52)_4018+?del"	"r.?"	"p.?"	"01-28"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001726"	"00000280"	"99"	"489"	"0"	"489"	"0"	"c.489G>A"	"r.489_490ins137"	"p.Gly164fs"	"05"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001727"	"00000280"	"77"	"673"	"0"	"673"	"0"	"c.673T>A"	"r.(673u>a)"	"p.(Cys225Ser)"	"07"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001728"	"00000280"	"99"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(889c>u)"	"p.(Gln297*)"	"09"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001730"	"00000280"	"99"	"1436"	"0"	"1436"	"0"	"c.1436C>G"	"r.(1436c>g)"	"p.(Ser479*)"	"13"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001731"	"00000280"	"99"	"1526"	"0"	"1526"	"0"	"c.1526delG"	"r.(1526delg)"	"p.(Gly509Glufs*13)"	"13"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001732"	"00000280"	"99"	"1530"	"0"	"1530"	"0"	"c.1530G>A"	"r.1418_1530del"	"p.Val473Glyfs*26"	"13"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001733"	"00000280"	"99"	"1838"	"0"	"1838"	"0"	"c.1838delG"	"r.(1838delg)"	"p.(Gly613Glufs*9)"	"15"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001734"	"00000280"	"99"	"1865"	"0"	"1865"	"0"	"c.1865delC"	"r.(1865delc)"	"p.(Thr622Ilefs*7)"	"15"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001735"	"00000280"	"77"	"1951"	"0"	"1951"	"0"	"c.1951C>G"	"r.(1951c>g)"	"p.(Arg651Gly)"	"16"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001736"	"00000280"	"55"	"2068"	"0"	"2068"	"0"	"c.2068A>G"	"r.(2068a>g)"	"p.(Ile690Val)"	"16"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001737"	"00000280"	"77"	"2486"	"0"	"2486"	"0"	"c.2486C>T"	"r.(2486c>u)"	"p.(Ser829Leu)"	"19"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001738"	"00000280"	"99"	"2515"	"0"	"2533"	"0"	"c.2515_2533del"	"r.(?)"	"p.(Glu839Profs*55)"	"19"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001739"	"00000280"	"77"	"2594"	"0"	"2594"	"0"	"c.2594G>A"	"r.(2594g>a)"	"p.(Ser865Asn)"	"19"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001740"	"00000280"	"99"	"2614"	"0"	"2615"	"0"	"c.2614_2615delGA"	"r.(2614_2615delga)"	"p.(Asp872Leufs*3)"	"19"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001741"	"00000280"	"99"	"2673"	"0"	"2673"	"0"	"c.2673C>A"	"r.(2673c>a)"	"p.(Cys891*)"	"20"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001742"	"00000280"	"99"	"2949"	"0"	"2949"	"0"	"c.2949C>A"	"r.(2949c>a)"	"p.(Tyr983*)"	"21"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001743"	"00000280"	"99"	"3056"	"0"	"3056"	"0"	"c.3056C>G"	"r.(3056c>g)"	"p.(Ser1019*)"	"22"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001744"	"00000280"	"99"	"3096"	"0"	"3096"	"0"	"c.3096delT"	"r.(3096delu)"	"p.(Tyr1032*)"	"22"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001746"	"00000280"	"77"	"3577"	"0"	"3577"	"0"	"c.3577T>G"	"r.(3577u>g)"	"p.(Trp1193Gly)"	"25"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001747"	"00000280"	"77"	"3749"	"0"	"3749"	"0"	"c.3749C>T"	"r.(3749c>u)"	"p.(Ser1250Phe)"	"26"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001749"	"00000280"	"99"	"3999"	"0"	"3999"	"0"	"c.3999C>A"	"r.(3999c>a)"	"p.(Cys1333*)"	"27"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001750"	"00000280"	"77"	"4115"	"0"	"4115"	"0"	"c.4115C>G"	"r.(4115c>g)"	"p.(Thr1372Arg)"	"28"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000001751"	"00000280"	"77"	"4168"	"0"	"4168"	"0"	"c.4168G>A"	"r.(4168g>a)"	"p.(Gly1390Ser)"	"28"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000039613"	"00000280"	"50"	"6479"	"0"	"6479"	"0"	"c.6479A>G"	"r.(?)"	"p.(Asp2160Gly)"	"43"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000268639"	"00000280"	"50"	"10471"	"0"	"10471"	"0"	"c.10471A>G"	"r.(?)"	"p.(Ser3491Gly)"	""	""	""	""	""	""	""	"VUS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000274618"	"00000280"	"50"	"10471"	"0"	"10471"	"0"	"c.10471A>G"	"r.(?)"	"p.(Ser3491Gly)"	""	""	""	""	""	""	""	"VUS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000354898"	"00000280"	"00"	"9206"	"0"	"9206"	"0"	"c.9206C>T"	"r.(?)"	"p.(Thr3069Ile)"	"58"	""	""	""	""	""	""	"?"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000019394"	"0000039613"
"0000154893"	"0000354898"