### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LDLR)
# 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}}"
"LDLR"	"low density lipoprotein receptor"	"19"	"p13.2"	"unknown"	"NC_000019.10"	"UD_144425302504"	""	""	""	"1"	"6547"	"3949"	"606945"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-11-29 00:00:00"	"00001"	"2022-12-27 17:03:07"	"00006"	"2021-09-05 09:44:24"


## 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}}"
"00000047"	"LDLR"	"transcript variant 1"	"001"	"NM_000527.4"	""	"NP_000518.1"	""	""	""	"-187"	"5097"	"2583"	"11089362"	"11133830"	"00001"	"2020-11-29 09:19:53"	""	""


## 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}}"
"00026"	"F8"	"Haemophilia A"	""	""	""	""	""	"00001"	"2020-11-23 09:41:35"	""	""
"00031"	"FH"	"Familial hypercholesterolemia"	""	""	""	""	""	"00001"	"2020-11-29 09:15:44"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"LDLR"	"00031"


## Individuals ## Do not remove or alter this header ##
## Count = 18
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000195"	""	""	""	"1"	""	"00002"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}"	""	""	"Malaysia"	""	""	""
"00000196"	""	""	""	"1"	""	"00002"	"{DOI:Alyaa Al-Khateeb et al. (2016):10.3823/2053}"	""	""	"Malaysia"	""	""	""
"00000197"	""	""	""	"1"	""	"00002"	"{PMID:Livy Alex et al. (2012):22534770}"	""	""	"Malaysia"	""	""	""
"00000199"	""	""	""	"1"	""	"00002"	"{PMID:Say-Hean Lye et al. (2013):23593297}"	""	""	"Malaysia"	""	""	""
"00000203"	""	""	""	"1"	""	"00002"	"{PMID:K L Khoo et al. (2000):11005141}"	""	""	"Malaysia"	"Chinese"	""	"M"
"00000204"	""	""	""	"1"	""	"00002"	"{PMID:K L Khoo et al. (2000):11005141}"	""	""	"Malaysia"	"Chinese"	""	"F"
"00000205"	""	""	""	"1"	""	"00002"	"{PMID:K L Khoo et al. (2000):11005141}"	""	""	"Malaysia"	"Indian"	""	"F"
"00000206"	""	""	""	"1"	""	"00002"	"{PMID:K L Khoo et al. (2000):11005141}"	""	""	"Malaysia"	"Malay"	""	"F"
"00000207"	""	""	""	"1"	""	"00002"	"{PMID:K L Khoo et al. (2000):11005141}"	""	""	"Malaysia"	"Malay"	""	"M"
"00000208"	""	""	""	"1"	""	"00002"	"{PMID:Kah Lin Khoo et al. (2016):27678436}"	""	""	"Malaysia"	"Malay"	""	"F"
"00000209"	""	""	""	"1"	""	"00002"	"{PMID:Kah Lin Khoo et al. (2016):27678436}"	""	""	"Malaysia"	"Malay"	""	"M"
"00000210"	""	""	""	"1"	""	"00002"	"{PMID:Kah Lin Khoo et al. (2016):27678436}"	""	""	"Malaysia"	"Chinese"	""	"F"
"00000211"	""	""	""	"1"	""	"00002"	"{PMID:Kah Lin Khoo et al. (2016):27678436}"	""	""	"Malaysia"	"Chinese"	""	"M"
"00000243"	""	""	""	"1"	""	"00002"	"{PMID:M Azian et al. (2006):17694954}"	""	""	"Malaysia"	""	""	""
"00000506"	""	""	""	"2"	""	"00004"	"{PMID:J K Chahil et al.(2012):22544571}"	""	""	"Malaysia"	"Malay"	""	"M"
"00000565"	""	""	"00000506"	"1"	""	"00004"	"{PMID:J K Chahil et al.(2012):22544571}"	""	""	"Malaysia"	"Malay"	""	"F"
"00000577"	""	""	""	"2"	""	"00004"	"{PMID:Noor Shafina Mohd Nor et al.(2019):30975109}"	"Monochorionic diamniotic identical twin"	""	"Malaysia"	"Indian"	""	"F"
"00000620"	""	""	""	"1"	""	"00004"	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"Malaysia"	"Malay"	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 18
"{{individualid}}"	"{{diseaseid}}"
"00000195"	"00031"
"00000196"	"00031"
"00000197"	"00031"
"00000199"	"00031"
"00000203"	"00031"
"00000204"	"00026"
"00000205"	"00031"
"00000206"	"00031"
"00000207"	"00031"
"00000208"	"00031"
"00000209"	"00031"
"00000210"	"00031"
"00000211"	"00031"
"00000243"	"00031"
"00000506"	"00031"
"00000565"	"00031"
"00000577"	"00031"
"00000620"	"00031"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00026, 00031
## Count = 9
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000092"	"00031"	"00000195"	"00002"	""	""
"0000000093"	"00031"	"00000196"	"00002"	""	"Familial, autosomal dominant"
"0000000094"	"00031"	"00000197"	"00002"	""	"Familial, autosomal dominant"
"0000000096"	"00031"	"00000199"	"00002"	""	"Familial, autosomal dominant"
"0000000099"	"00031"	"00000203"	"00002"	""	""
"0000000126"	"00031"	"00000243"	"00002"	""	"Familial, autosomal dominant"
"0000000195"	"00031"	"00000506"	"00004"	"Arcus cornealis, Xanthomas, Tendinous xanthomata, Tuberous xanthomas, Tendon xanthomas, Cardiomegaly"	""
"0000000196"	"00031"	"00000565"	"00004"	"Xanthomas, Planar xanthomas, Tendon xanthomas"	""
"0000000221"	"00031"	"00000620"	"00004"	"Tendinous xanthomata, Arcus cornealis prior to age 45 years"	""


## Screenings ## Do not remove or alter this header ##
## Count = 18
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000210"	"00000195"	"1"	"00002"	"00002"	"2020-11-29 09:35:18"	""	""	"DHPLC;MLPA;PCR"	"DNA"
"0000000211"	"00000196"	"1"	"00002"	"00002"	"2020-11-29 12:13:45"	""	""	"DHPLC;SEQ"	"DNA"
"0000000212"	"00000197"	"1"	"00002"	"00002"	"2020-11-29 16:17:23"	""	""	"SEQ-NG-I"	"DNA"
"0000000214"	"00000199"	"1"	"00002"	"00002"	"2020-11-30 11:02:04"	""	""	"SEQ-NG-I;SEQ"	"DNA"
"0000000218"	"00000203"	"1"	"00002"	"00002"	"2020-12-01 12:21:31"	""	""	"DGGE;PCR"	"DNA"
"0000000219"	"00000204"	"1"	"00002"	"00002"	"2020-12-01 13:20:14"	""	""	"DGGE;PCR"	"DNA"
"0000000220"	"00000205"	"1"	"00002"	"00002"	"2020-12-01 15:07:28"	""	""	"DGGE;PCR"	"DNA"
"0000000221"	"00000206"	"1"	"00002"	"00002"	"2020-12-01 15:20:53"	""	""	"DGGE;PCR"	"DNA"
"0000000222"	"00000207"	"1"	"00002"	"00002"	"2020-12-01 15:27:08"	""	""	"DGGE;PCR"	"DNA"
"0000000223"	"00000208"	"1"	"00002"	"00002"	"2020-12-02 09:09:22"	""	""	"MLPA;SEQ"	"DNA"
"0000000224"	"00000209"	"1"	"00002"	"00002"	"2020-12-02 09:52:15"	""	""	"MLPA;SEQ"	"DNA"
"0000000225"	"00000210"	"1"	"00002"	"00002"	"2020-12-02 10:11:08"	""	""	"MLPA;SEQ"	"DNA"
"0000000226"	"00000211"	"1"	"00002"	"00002"	"2020-12-02 10:52:52"	""	""	"MLPA;SEQ"	"DNA"
"0000000258"	"00000243"	"1"	"00002"	"00002"	"2020-12-13 11:27:42"	""	""	"DGGE;PCR"	"DNA"
"0000000553"	"00000506"	"1"	"00004"	"00004"	"2021-03-11 15:18:26"	""	""	"PCR;SEQ"	"DNA"
"0000000616"	"00000565"	"1"	"00004"	"00004"	"2021-04-05 11:54:15"	""	""	"PCR;SEQ"	"DNA"
"0000000635"	"00000577"	"1"	"00004"	"00004"	"2021-04-08 11:22:34"	""	""	"SEQ-NG-I"	"DNA"
"0000000687"	"00000620"	"1"	"00004"	"00004"	"2021-05-09 15:01:01"	""	""	"DHPLC;PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 18
"{{screeningid}}"	"{{geneid}}"
"0000000210"	"LDLR"
"0000000211"	"LDLR"
"0000000212"	"LDLR"
"0000000214"	"LDLR"
"0000000218"	"LDLR"
"0000000219"	"LDLR"
"0000000220"	"LDLR"
"0000000221"	"LDLR"
"0000000222"	"LDLR"
"0000000223"	"LDLR"
"0000000224"	"LDLR"
"0000000225"	"LDLR"
"0000000226"	"LDLR"
"0000000258"	"LDLR"
"0000000553"	"LDLR"
"0000000616"	"LDLR"
"0000000635"	"LDLR"
"0000000687"	"LDLR"


## 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 = 95
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000000958"	"0"	"10"	"19"	"11100236"	"11100236"	"subst"	"0"	"00002"	"LDLR_000002"	"g.11100236C>T"	"1/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs2228671}, {ClinVar:251010}"	""	""	"rs2228671"
"0000000959"	"0"	"00"	"19"	"11100401"	"11100401"	"subst"	"0"	"00002"	"LDLR_000003"	"g.11100401G>A"	"3/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs3745677}, {ClinVar:251053}"	""	""	"rs3745677"
"0000000960"	"0"	"90"	"19"	"11100403"	"11100403"	"subst"	"0"	"00002"	"LDLR_000004"	"g.11100403C>T"	"7/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs3745678}"	""	""	"rs3745678"
"0000000961"	"0"	"30"	"19"	"11102773"	"11102773"	"subst"	"0"	"00002"	"LDLR_000005"	"g.11102773C>T"	"1/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}{dbSNP:rs766709484}"	""	""	"rs766709484"
"0000000962"	"0"	"00"	"19"	"11107484"	"11107484"	"subst"	"0"	"00002"	"LDLR_000006"	"g.11107484G>A"	"7/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs121908030}, {OMIM:606945:0008}, {ClinVar:3692}"	""	""	"rs121908030"
"0000000963"	"0"	"10"	"19"	"11107550"	"11107550"	"subst"	"0"	"00002"	"LDLR_000007"	"g.11107550G>A"	"3/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs13306513}, {ClinVar:523739}"	""	""	"rs13306513"
"0000000964"	"0"	"90"	"19"	"11110778"	"11110778"	"subst"	"0"	"00002"	"LDLR_000008"	"g.11110778C>A"	"18/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs2738442}"	"c.1060+7T>C"	""	"rs2738442"
"0000000965"	"0"	"90"	"19"	"11110781"	"11110781"	"subst"	"0"	"00002"	"LDLR_000009"	"g.11110781G>C"	"5/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {ClinVar:226709}"	""	""	""
"0000000966"	"0"	"30"	"19"	"11111680"	"11111680"	"subst"	"0"	"00002"	"LDLR_000010"	"g.11111680T>A"	"1/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs536387604}, {ClinVar:251710}"	""	""	"rs536387604"
"0000000967"	"0"	"00"	"19"	"11113285"	"11113285"	"subst"	"0"	"00002"	"LDLR_000011"	"g.11113285C>T"	"5/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs13306498}, {ClinVar:224620}"	""	""	"rs13306498"
"0000000968"	"0"	"10"	"19"	"11113505"	"11113505"	"subst"	"0"	"00002"	"LDLR_000012"	"g.11113505C>T"	"2/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs1003723}, {ClinVar:251806}"	""	""	"rs1003723"
"0000000969"	"0"	"30"	"19"	"11113587"	"11113587"	"subst"	"0"	"00002"	"LDLR_000013"	"g.11113587A>G"	"17/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs879254891}, {ClinVar:251829}"	""	""	"rs879254891"
"0000000970"	"0"	"10"	"19"	"11116124"	"11116124"	"subst"	"0"	"00002"	"LDLR_000014"	"g.11116124C>T"	"6/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs5929}, {ClinVar:251936}"	""	""	"rs5929"
"0000000971"	"0"	"00"	"19"	"11116268"	"11116268"	"subst"	"0"	"00002"	"LDLR_000015"	"g.11116268C>T"	"12/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs4508523}, {ClinVar:251983}"	""	""	"rs4508523"
"0000000972"	"0"	"30"	"19"	"11116324"	"11116324"	"subst"	"0"	"00002"	"LDLR_000016"	"g.11116324C>G"	"1/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs879254995}, {ClinVar:251984}"	""	""	"rs879254995"
"0000000973"	"0"	"10"	"19"	"11116804"	"11116804"	"subst"	"0"	"00002"	"LDLR_000017"	"g.11116804A>C"	"6/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs2738447}, {ClinVar:440657}"	""	""	"rs2738447"
"0000000974"	"0"	"10"	"19"	"11116790"	"11116790"	"subst"	"0"	"00002"	"LDLR_000018"	"g.11116790G>T"	"1/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs7259278}, {ClinVar:251985}"	""	""	"rs7259278"
"0000000975"	"0"	"90"	"19"	"11116329"	"11116329"	"subst"	"0"	"00002"	"LDLR_000019"	"g.11116329T>G"	"2/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}"	""	""	""
"0000000976"	"0"	"00"	"19"	"11116926"	"11116926"	"subst"	"0"	"00002"	"LDLR_000020"	"g.11116926C>T"	"7/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs688}, {ClinVar:200917}"	""	""	"rs688"
"0000000977"	"0"	"00"	"19"	"11120205"	"11120205"	"subst"	"0"	"00002"	"LDLR_000021"	"g.11120205T>C"	"1/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs5925}, {ClinVar:252131}"	""	""	"rs5925"
"0000000978"	"0"	"10"	"19"	"11123265"	"11123265"	"subst"	"0"	"00002"	"LDLR_000022"	"g.11123265A>G"	"5/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs5927}, {ClinVar:252262}"	""	""	"rs5927"
"0000000979"	"0"	"00"	"19"	"11100349"	"11100349"	"subst"	"0"	"00002"	"LDLR_000023"	"g.11100349A>T"	"1/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs769446356}, {ClinVar:225097}"	""	""	"rs769446356"
"0000000980"	"0"	"00"	"19"	"11102774"	"11102774"	"subst"	"0"	"00002"	"LDLR_000024"	"g.11102774G>A"	"11/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs144172724}, {ClinVar:161266}"	""	""	"rs144172724"
"0000000981"	"0"	"70"	"19"	"11105321"	"11105321"	"subst"	"0"	"00002"	"LDLR_000025"	"g.11105321G>C"	"1/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs879254517}, {ClinVar:251210}"	""	""	"rs879254517"
"0000000982"	"0"	"70"	"19"	"11105507"	"11105507"	"subst"	"0"	"00002"	"LDLR_000026"	"g.11105507G>A"	"9/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs879254589}, {ClinVar:251317}"	""	""	"rs879254589"
"0000000983"	"0"	"70"	"19"	"11106633"	"11106633"	"subst"	"0"	"00002"	"LDLR_000027"	"g.11106633T>A"	"10/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs879254668}, {ClinVar:251440}"	""	""	"rs879254668"
"0000000984"	"0"	"90"	"19"	"11116859"	"11116998"	"dup"	"0"	"00002"	"LDLR_000028"	"g.11116859_11116998dup"	"2/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}"	""	""	""
"0000000985"	"0"	"00"	"19"	"11120482"	"11120482"	"subst"	"0"	"00002"	"LDLR_000029"	"g.11120482C>G"	"5/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs759858813}, {ClinVar:252221}"	""	""	"rs759858813"
"0000000986"	"0"	"90"	"19"	"11120378"	"11120394"	"del"	"0"	"00002"	"LDLR_000030"	"g.11120378_11120394del"	"4/147"	"{PMID:Alyaa Al-Khateeb et al. (2011):21418584}, {dbSNP:rs879255104}, {ClinVar:252157}"	"c.1996_2012del17"	""	"rs879255104"
"0000000987"	"0"	"90"	"19"	"11102787"	"11102787"	"subst"	"0"	"00002"	"LDLR_000031"	"g.11102787G>A"	"1/40"	"{OMIM:606945:0054}, {ClinVar:3736}"	""	""	""
"0000000988"	"0"	"70"	"19"	"11106633"	"11106633"	"subst"	"0"	"00002"	"LDLR_000027"	"g.11106633T>A"	"4/40"	"{dbSNP:rs879254668}, {ClinVar:251440}"	""	""	"rs879254668"
"0000000989"	"0"	"90"	"19"	"11113307"	"11113307"	"subst"	"0"	"00002"	"LDLR_000032"	"g.11113307C>T"	"1/40"	"{ClinVar:226351}"	""	""	""
"0000000990"	"0"	"10"	"19"	"11113589"	"11113589"	"subst"	"0"	"00002"	"LDLR_000033"	"g.11113589A>G"	"15/40"	"{dbSNP:rs5930}, {ClinVar:200916}"	"c.1413G>A"	""	"rs5930"
"0000000991"	"0"	"00"	"19"	"11116926"	"11116926"	"subst"	"0"	"00002"	"LDLR_000020"	"g.11116926C>T"	"19/40"	"{dbSNP:rs688}, {ClinVar:200917}"	"c.1773T>C"	""	"rs688"
"0000000992"	"0"	"70"	"19"	"11126329"	"11126329"	"subst"	"0"	"00002"	"LDLR_000034"	"g.11126329T>C"	"1/2"	"{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs10422244}"	""	""	"rs10422244"
"0000000993"	"0"	"70"	"19"	"11108701"	"11108701"	"subst"	"0"	"00002"	"LDLR_000035"	"g.11108701G>T"	"1/2"	"{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs61318752}"	""	""	"rs61318752"
"0000001012"	"0"	"90"	"19"	"11108289"	"11108289"	"subst"	"0"	"00002"	"LDLR_000036"	"g.11108289G>A"	"1"	"{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs2569556}"	""	""	"rs2569556"
"0000001036"	"0"	"90"	"19"	"11089397"	"11089397"	"subst"	"0"	"00002"	"LDLR_000037"	"g.11089397C>T"	"1/9"	"{PMID:K L Khoo et al. (2000):11005141}, {ClinVar:250945}"	"CT at −152"	""	""
"0000001037"	"0"	"90"	"19"	"11100232"	"11100233"	"del"	"0"	"00002"	"LDLR_000038"	"g.11100232_11100233del"	"1/9"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs879254400}, {ClinVar:251008}"	"GA deleted at 77"	""	"rs879254400"
"0000001038"	"0"	"90"	"19"	"11102741"	"11102741"	"subst"	"0"	"00002"	"LDLR_000039"	"g.11102741G>A"	"1/9"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs749038326}, {ClinVar:251105}"	"GAT>AAT at 268"	""	"rs749038326"
"0000001039"	"0"	"90"	"19"	"11105250"	"11105250"	"subst"	"0"	"00002"	"LDLR_000040"	"g.11105250G>A"	"2/9"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs201102461}, {ClinVar:225402}"	"CGC>CAC at 344"	""	"rs201102461"
"0000001040"	"0"	"90"	"19"	"11106627"	"11106627"	"subst"	"0"	"00002"	"LDLR_000041"	"g.11106627C>T"	"1/9"	"{PMID:K L Khoo et al. (2000):11005141}, {ClinVar:161261}"	"CGG>TGG at 757"	""	""
"0000001041"	"0"	"90"	"19"	"11113359"	"11113359"	"subst"	"0"	"00002"	"LDLR_000042"	"g.11113359T>C"	"1/9"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs879254849}, {ClinVar:251760}"	"ATC>ACC at 1269"	""	"rs879254849"
"0000001042"	"0"	"90"	"19"	"11120469"	"11120469"	"subst"	"0"	"00002"	"LDLR_000043"	"g.11120469G>A"	"1/9"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs879255134}, {ClinVar:252210}"	"TGC>TAC at 2087"	""	"rs879255134"
"0000001043"	"0"	"90"	"19"	"11120432"	"11120432"	"subst"	"0"	"00002"	"LDLR_000044"	"g.11120432G>A"	"1/9"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs774730452}, {ClinVar:252192}"	"GCC>ACC at 2048"	""	"rs774730452"
"0000001044"	"0"	"90"	"19"	"11102787"	"11102787"	"subst"	"0"	"00002"	"LDLR_000031"	"g.11102787G>A"	"1/10"	"{PMID:K L Khoo et al. (2000):11005141}, {ClinVar:3736}, {OMIM:606945:0054}"	"G>A at 313+1"	""	""
"0000001045"	"0"	"90"	"19"	"11106627"	"11106627"	"subst"	"0"	"00002"	"LDLR_000041"	"g.11106627C>T"	"1/10"	"{PMID:K L Khoo et al. (2000):11005141}, {ClinVar:161261}"	"CGG>TGG at 757"	""	""
"0000001046"	"0"	"90"	"19"	"11110697"	"11110697"	"subst"	"0"	"00002"	"LDLR_000045"	"g.11110697G>A"	"2/10"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs761954844}, {ClinVar:226344}"	"TGC>TAC at 986"	""	"rs761954844"
"0000001047"	"0"	"90"	"19"	"11111585"	"11111585"	"subst"	"0"	"00002"	"LDLR_000046"	"g.11111585C>T"	"1/10"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs879254802}, {ClinVar:251683}"	"CAG>TAG at 1132"	""	"rs879254802"
"0000001048"	"0"	"90"	"19"	"11113332"	"11113332"	"subst"	"0"	"00002"	"LDLR_000047"	"g.11113332T>G"	"2/10"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs748554592}, {ClinVar:251747}"	"CTG>CGG at 1242"	""	"rs748554592"
"0000001049"	"0"	"90"	"19"	"11113608"	"11113608"	"subst"	"0"	"00002"	"LDLR_000048"	"g.11113608G>A"	"1/10"	"{PMID:K L Khoo et al. (2000):11005141}, {ClinVar:161277}"	"GGG>AGG at 1432"	""	""
"0000001050"	"0"	"90"	"19"	"11113650"	"11113650"	"subst"	"0"	"00002"	"LDLR_000049"	"g.11113650G>A"	"1/10"	"{PMID:K L Khoo et al. (2000):11005141}, {ClinVar:161285}"	"GAC>AAC at 1474"	""	""
"0000001051"	"0"	"90"	"19"	"11120490"	"11120496"	"dup"	"0"	"00002"	"LDLR_000050"	"g.11120490_11120496dup"	"1/10"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs879255141}, {ClinVar:252223}"	"TGCTGGCins2108"	""	"rs879255141"
"0000001052"	"0"	"90"	"19"	"11107403"	"11107403"	"subst"	"0"	"00002"	"LDLR_000001"	"g.11107403G>A"	"1"	"{PMID:K L Khoo et al. (2000):11005141}, {ClinVar:183097}"	"GAG>AAG at 829"	""	""
"0000001053"	"0"	"90"	"19"	"11111585"	"11111585"	"subst"	"0"	"00002"	"LDLR_000046"	"g.11111585C>T"	"1"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs879254802}, {ClinVar:251683}"	"CAG>TAG at 1132"	""	"rs879254802"
"0000001054"	"0"	"00"	"19"	"11113375"	"11113375"	"subst"	"0"	"00002"	"LDLR_000051"	"g.11113375C>G"	"1"	"{PMID:K L Khoo et al. (2000):11005141}, {dbSNP:rs368708058}, {ClinVar:251766}"	"AAC>AAG at 1283"	""	"rs368708058"
"0000001055"	"3"	"70"	"19"	"11120514"	"11120514"	"subst"	"0"	"00002"	"LDLR_000052"	"g.11120514G>A"	"3/10"	"{PMID:Kah Lin Khoo et al. (2016):27678436}, {dbSNP:rs879255145}, {ClinVar:252229}"	"Cys711Tyr in exon 14"	""	"rs879255145"
"0000001056"	"3"	"70"	"19"	"11106633"	"11106633"	"subst"	"0"	"00002"	"LDLR_000027"	"g.11106633T>A"	"1/10"	"{PMID:Kah Lin Khoo et al. (2016):27678436}, {dbSNP:rs879254668}, {ClinVar:251440}"	"Cys255Ser in exon 5"	""	"rs879254668"
"0000001057"	"3"	"00"	"19"	"11102774"	"11102774"	"subst"	"0"	"00002"	"LDLR_000024"	"g.11102774G>A"	"3/10"	"{PMID:Kah Lin Khoo et al. (2016):27678436}, {dbSNP:rs144172724}, {ClinVar:161266}"	"p.Glu101Lys in exon 3"	""	"rs144172724"
"0000001058"	"3"	"00"	"19"	"11107484"	"11107484"	"subst"	"0"	"00002"	"LDLR_000006"	"g.11107484G>A"	"1/10"	"{PMID:Kah Lin Khoo et al. (2016):27678436}, {dbSNP:rs121908030}, {OMIM:606945:0008}, {ClinVar:3692}"	"Asp304Asn in exon 6"	""	"rs121908030"
"0000001059"	"0"	"90"	"19"	"11105566"	"11105566"	"del"	"0"	"00002"	"LDLR_000053"	"g.11105566delC"	"1/10"	"{PMID:Kah Lin Khoo et al. (2016):27678436}"	"c.660delC in exon 4"	""	""
"0000001060"	"0"	"90"	"19"	"11128085"	"11128085"	"subst"	"0"	"00002"	"LDLR_000054"	"g.11128085G>A"	"1/10"	"{PMID:Kah Lin Khoo et al. (2016):27678436}, {ClinVar:226393}"	"Val797Met in exon 16"	""	""
"0000001061"	"3"	"70"	"19"	"11120514"	"11120514"	"subst"	"0"	"00002"	"LDLR_000052"	"g.11120514G>A"	"1"	"{PMID:Kah Lin Khoo et al. (2016):27678436}, {dbSNP:rs879255145}, {ClinVar:252229}"	"Cys711Tyr in exon 14"	""	"rs879255145"
"0000001062"	"3"	"00"	"19"	"11113767"	"11113767"	"subst"	"0"	"00002"	"LDLR_000055"	"g.11113767G>C"	"1/5"	"{PMID:Kah Lin Khoo et al. (2016):27678436}, {dbSNP:rs781362878}, {ClinVar:440652}"	"c.1586+5 G to C in intron 10"	""	"rs781362878"
"0000001063"	"3"	"00"	"19"	"11116882"	"11116882"	"subst"	"0"	"00002"	"LDLR_000056"	"g.11116882T>C"	"1/5"	"{PMID:Kah Lin Khoo et al. (2016):27678436}, {dbSNP:rs879255000}, {ClinVar:252001}"	"p.Trp576Arg in exon 12"	""	"rs879255000"
"0000001064"	"0"	"90"	"19"	"11113332"	"11113332"	"subst"	"0"	"00002"	"LDLR_000047"	"g.11113332T>G"	"1/5"	"{PMID:Kah Lin Khoo et al. (2016):27678436}, {dbSNP:rs748554592}, {ClinVar:251747}"	"p.Leu414Arg in exon 9"	""	"rs748554592"
"0000001065"	"3"	"90"	"19"	"11123345"	"11123345"	"subst"	"0"	"00002"	"LDLR_000057"	"g.11123345G>T"	"1/2"	"{PMID:Kah Lin Khoo et al. (2016):27678436}, {ClinVar:252274}"	"c.2311+1 G to T in intron 15"	""	""
"0000001231"	"0"	"90"	"19"	"11102741"	"11102741"	"subst"	"0"	"00002"	"LDLR_000039"	"g.11102741G>A"	"1/33"	"{PMID:M Azian et ai. (2006):17694954}, {dbSNP:rs749038326}, {ClinVar:251105}"	"D69N"	""	"rs749038326"
"0000001232"	"3"	"90"	"19"	"11106633"	"11106633"	"subst"	"0"	"00002"	"LDLR_000027"	"g.11106633T>A"	"2/33"	"{PMID:M Azian et al. (2006):17694954}, {dbSNP:rs879254668}, {ClinVar:251440}"	"C234S"	""	"rs879254668"
"0000001233"	"0"	"90"	"19"	"11106633"	"11106633"	"subst"	"0"	"00002"	"LDLR_000027"	"g.11106633T>A"	"7/33"	"{PMID:M Azian et al. (2006):17694954}, {dbSNP:rs879254668}, {ClinVar:251440}"	"C234S"	""	"rs879254668"
"0000001234"	"0"	"90"	"19"	"11113307"	"11113307"	"subst"	"0"	"00002"	"LDLR_000032"	"g.11113307C>T"	"2/33"	"{PMID:M Azian et al. (2006):17694954}, {ClinVar:226351}"	"R385W"	""	""
"0000001235"	"3"	"30"	"19"	"11123242"	"11123242"	"subst"	"0"	"00002"	"LDLR_000058"	"g.11123242A>G"	"1/33"	"{PMID:M Azian et al. (2006):17694954}, {dbSNP:rs879255165}, {ClinVar:252257}"	"R716G"	""	"rs879255165"
"0000001236"	"0"	"10"	"19"	"11113589"	"11113589"	"subst"	"0"	"00002"	"LDLR_000033"	"g.11113589A>G"	"4/33"	"{PMID:M Azian et al. (2006):17694954}, {dbSNP:rs5930}, {ClinVar:200916}"	"R450R"	""	"rs5930"
"0000001237"	"0"	"10"	"19"	"11116124"	"11116124"	"subst"	"0"	"00002"	"LDLR_000014"	"g.11116124C>T"	"4/33"	"{PMID:M Azian et al. (2006):17694954}, {dbSNP:rs5929}, {ClinVar:251936}"	"N510N"	""	"rs5929"
"0000001238"	"0"	"00"	"19"	"11116926"	"11116926"	"subst"	"0"	"00002"	"LDLR_000020"	"g.11116926C>T"	"5/33"	"{PMID:M Azian et al. (2006):17694954}, {dbSNP:rs688}, {ClinVar:200917}"	"N570N"	""	"rs688"
"0000001239"	"0"	"00"	"19"	"11120205"	"11120205"	"subst"	"0"	"00002"	"LDLR_000021"	"g.11120205T>C"	"7/33"	"{PMID:M Azian et al. (2006):17694954}, {dbSNP:rs5925}, {ClinVar:252131}"	"V632V"	""	"rs5925"
"0000002298"	"3"	"70"	"19"	"11120514"	"11120514"	"subst"	"0"	"00004"	"LDLR_000052"	"g.11120514G>A"	""	"{PMID:J K Chahil et al.(2012):22544571}"	""	""	"rs879255145"
"0000002557"	"0"	"90"	"19"	"11120514"	"11120514"	"subst"	"0"	"00004"	"LDLR_000052"	"g.11120514G>A"	""	"{PMID:J K Chahil et al.(2012):22544571}"	""	""	"rs879255145"
"0000002579"	"0"	"90"	"19"	"11105436"	"11105436"	"subst"	"0"	"00004"	"LDLR_000060"	"g.11105436C>T"	""	"{PMID:Noor Shafina Mohd Nor et al.(2019):30975109}"	""	""	"rs121908026"
"0000002728"	"0"	"90"	"19"	"11105507"	"11105507"	"subst"	"0"	"00004"	"LDLR_000026"	"g.11105507G>A"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs879254589"
"0000002729"	"0"	"90"	"19"	"11107484"	"11107484"	"subst"	"0"	"00004"	"LDLR_000006"	"g.11107484G>A"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs121908030"
"0000002730"	"0"	"90"	"19"	"11102774"	"11102774"	"subst"	"0"	"00004"	"LDLR_000024"	"g.11102774G>A"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs144172724"
"0000002731"	"0"	"90"	"19"	"11105321"	"11105321"	"subst"	"0"	"00004"	"LDLR_000025"	"g.11105321G>C"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs879254517"
"0000002732"	"0"	"90"	"19"	"11106633"	"11106633"	"subst"	"0"	"00004"	"LDLR_000027"	"g.11106633T>A"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs879254668"
"0000002733"	"0"	"90"	"19"	"11116329"	"11116329"	"subst"	"0"	"00004"	"LDLR_000019"	"g.11116329T>G"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	""
"0000002734"	"0"	"90"	"19"	"11107550"	"11107550"	"subst"	"0"	"00004"	"LDLR_000007"	"g.11107550G>A"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs13306513"
"0000002735"	"0"	"90"	"19"	"11100403"	"11100403"	"subst"	"0"	"00004"	"LDLR_000004"	"g.11100403C>T"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs3745678"
"0000002736"	"0"	"90"	"19"	"11100236"	"11100236"	"subst"	"0"	"00004"	"LDLR_000002"	"g.11100236C>T"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs2228671"
"0000002737"	"0"	"90"	"19"	"11113285"	"11113285"	"subst"	"0"	"00004"	"LDLR_000011"	"g.11113285C>T"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs13306498"
"0000002738"	"0"	"90"	"19"	"11110778"	"11110778"	"subst"	"0"	"00004"	"LDLR_000059"	"g.11110778C>T"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs2738442"
"0000002739"	"0"	"90"	"19"	"11116124"	"11116124"	"subst"	"0"	"00004"	"LDLR_000014"	"g.11116124C>T"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs5929"
"0000002740"	"0"	"90"	"19"	"11116268"	"11116268"	"subst"	"0"	"00004"	"LDLR_000015"	"g.11116268C>T"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs4508523"
"0000002741"	"0"	"90"	"19"	"11116324"	"11116324"	"subst"	"0"	"00004"	"LDLR_000016"	"g.11116324C>G"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs879254995"
"0000002742"	"0"	"90"	"19"	"11116926"	"11116926"	"subst"	"0"	"00004"	"LDLR_000020"	"g.11116926C>T"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs688"
"0000002743"	"0"	"90"	"19"	"11123265"	"11123265"	"subst"	"0"	"00004"	"LDLR_000022"	"g.11123265A>G"	""	"{DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}"	""	""	"rs5927"


## 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 LDLR
## Count = 95
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000000958"	"00000047"	"10"	"81"	"0"	"81"	"0"	"c.81C>T"	"2"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:251010}"
"0000000959"	"00000047"	"00"	"190"	"56"	"190"	"56"	"c.190+56G>A"	"2i"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:251053}"
"0000000960"	"00000047"	"90"	"190"	"58"	"190"	"58"	"c.190+58C>T"	"2i"	"p.(=)"	"r.(=)"	""	""	""
"0000000961"	"00000047"	"30"	"300"	"0"	"300"	"0"	"c.300C>T"	"3"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:251123}"
"0000000962"	"00000047"	"00"	"910"	"0"	"910"	"0"	"c.910G>A"	"6"	"p.(Asp304Asn)"	"r.(?)"	""	""	"{ClinVar:3692}"
"0000000963"	"00000047"	"10"	"940"	"36"	"940"	"36"	"c.940+36G>A"	"6i"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:523739}"
"0000000964"	"00000047"	"90"	"1060"	"7"	"1060"	"7"	"c.1060+7C>A"	"7i"	"p.(=)"	"r.(=)"	""	""	""
"0000000965"	"00000047"	"90"	"1060"	"10"	"1060"	"10"	"c.1060+10G>C"	"7i"	"p.(=)"	"r.(=)"	""	""	""
"0000000966"	"00000047"	"30"	"1186"	"41"	"1186"	"41"	"c.1186+41T>A"	"8i"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:251710}"
"0000000967"	"00000047"	"00"	"1194"	"0"	"1194"	"0"	"c.1194C>T"	"9"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:224620}"
"0000000968"	"00000047"	"10"	"1359"	"-30"	"1359"	"-30"	"c.1359-30C>T"	"9i"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:251806}"
"0000000969"	"00000047"	"30"	"1411"	"0"	"1411"	"0"	"c.1411A>G"	"10"	"p.(Arg471Gly)"	"r.(?)"	""	""	"{ClinVar:251829}"
"0000000970"	"00000047"	"10"	"1617"	"0"	"1617"	"0"	"c.1617C>T"	"11"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:251936}"
"0000000971"	"00000047"	"00"	"1705"	"56"	"1705"	"56"	"c.1705+56C>T"	"11i"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:251983}"
"0000000972"	"00000047"	"30"	"1705"	"112"	"1705"	"112"	"c.1705+112C>G"	"11i"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:251984}"
"0000000973"	"00000047"	"10"	"1706"	"-55"	"1706"	"-55"	"c.1706-55A>C"	"11i"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:440657}"
"0000000974"	"00000047"	"10"	"1706"	"-69"	"1706"	"-69"	"c.1706-69G>T"	"11i"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:251985}"
"0000000975"	"00000047"	"90"	"1705"	"117"	"1705"	"117"	"c.1705+117T>G"	"11i"	"p.(=)"	"r.(=)"	""	""	""
"0000000976"	"00000047"	"00"	"1773"	"0"	"1773"	"0"	"c.1773C>T"	"12"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:200917}"
"0000000977"	"00000047"	"00"	"1959"	"0"	"1959"	"0"	"c.1959T>C"	"13"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:252131}"
"0000000978"	"00000047"	"10"	"2232"	"0"	"2232"	"0"	"c.2232A>G"	"15"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:252262}"
"0000000979"	"00000047"	"00"	"190"	"4"	"190"	"4"	"c.190+4A>T"	"2i"	"p.?"	"r.spl?"	""	""	"{ClinVar:225097}"
"0000000980"	"00000047"	"00"	"301"	"0"	"301"	"0"	"c.301G>A"	"3"	"p.(Glu101Lys)"	"r.(?)"	""	""	"{ClinVar:161266}"
"0000000981"	"00000047"	"70"	"415"	"0"	"415"	"0"	"c.415G>C"	"4"	"p.(Asp139His)"	"r.(?)"	""	""	"{ClinVar:251210}"
"0000000982"	"00000047"	"70"	"601"	"0"	"601"	"0"	"c.601G>A"	"4"	"p.(Glu201Lys)"	"r.(?)"	""	""	"{ClinVar:251317}"
"0000000983"	"00000047"	"70"	"763"	"0"	"763"	"0"	"c.763T>A"	"5"	"p.(Cys255Ser)"	"r.(?)"	""	""	"{ClinVar:251440}"
"0000000984"	"00000047"	"90"	"1706"	"0"	"1845"	"0"	"c.1706_1845dup"	"12"	"p.(Asp616Ilefs*96)"	"r.(?)"	""	""	""
"0000000985"	"00000047"	"00"	"2100"	"0"	"2100"	"0"	"c.2100C>G"	"14"	"p.(Asp700Glu)"	"r.(?)"	""	""	"{ClinVar:252221}"
"0000000986"	"00000047"	"90"	"1996"	"0"	"2012"	"0"	"c.1996_2012del"	"14"	"p.(Trp666Profs*45)"	"r.(?)"	""	""	"{ClinVar:252157}"
"0000000987"	"00000047"	"90"	"313"	"1"	"313"	"1"	"c.313+1G>A"	"3i"	"p.?"	"r.spl?"	""	""	""
"0000000988"	"00000047"	"70"	"763"	"0"	"763"	"0"	"c.763T>A"	"5"	"p.(Cys255Ser)"	"r.(?)"	""	""	"{ClinVar:251440}"
"0000000989"	"00000047"	"90"	"1216"	"0"	"1216"	"0"	"c.1216C>T"	"9"	"p.(Arg406Trp)"	"r.(?)"	""	""	""
"0000000990"	"00000047"	"10"	"1413"	"0"	"1413"	"0"	"c.1413A>G"	"10"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:200916}"
"0000000991"	"00000047"	"00"	"1773"	"0"	"1773"	"0"	"c.1773C>T"	"12"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:200917}"
"0000000992"	"00000047"	"70"	"2312"	"-1679"	"2312"	"-1679"	"c.2312-1679T>C"	"15i"	"p.(=)"	"r.(=)"	""	""	""
"0000000993"	"00000047"	"70"	"940"	"1187"	"940"	"1187"	"c.940+1187G>T"	"6i"	"p.(=)"	"r.(=)"	""	""	""
"0000001012"	"00000047"	"90"	"940"	"775"	"940"	"775"	"c.940+775G>A"	"6i"	"p.(=)"	"r.(=)"	""	""	""
"0000001036"	"00000047"	"90"	"-152"	"0"	"-152"	"0"	"c.-152C>T"	"-"	"p.(=)"	"r.(=)"	""	""	""
"0000001037"	"00000047"	"90"	"77"	"0"	"78"	"0"	"c.77_78del"	"2"	"p.(Arg26Metfs*25)"	"r.(?)"	""	""	"{ClinVar:251008}"
"0000001038"	"00000047"	"90"	"268"	"0"	"268"	"0"	"c.268G>A"	"3"	"p.(Asp90Asn)"	"r.(?)"	""	""	"{ClinVar:251105}"
"0000001039"	"00000047"	"90"	"344"	"0"	"344"	"0"	"c.344G>A"	"4"	"p.(Arg115His)"	"r.(?)"	""	""	"{ClinVar:225402}"
"0000001040"	"00000047"	"90"	"757"	"0"	"757"	"0"	"c.757C>T"	"5"	"p.(Arg253Trp)"	"r.(?)"	""	""	""
"0000001041"	"00000047"	"90"	"1268"	"0"	"1268"	"0"	"c.1268T>C"	"9"	"p.(Ile423Thr)"	"r.(?)"	""	""	"{ClinVar:251760}"
"0000001042"	"00000047"	"90"	"2087"	"0"	"2087"	"0"	"c.2087G>A"	"14"	"p.(Cys696Tyr)"	"r.(?)"	""	""	"{ClinVar:252210}"
"0000001043"	"00000047"	"90"	"2050"	"0"	"2050"	"0"	"c.2050G>A"	"14"	"p.(Ala684Thr)"	"r.(?)"	""	""	"{ClinVar:252192}"
"0000001044"	"00000047"	"90"	"313"	"1"	"313"	"1"	"c.313+1G>A"	"3i"	"p.?"	"r.spl?"	""	""	""
"0000001045"	"00000047"	"90"	"757"	"0"	"757"	"0"	"c.757C>T"	"5"	"p.(Arg253Trp)"	"r.(?)"	""	""	""
"0000001046"	"00000047"	"90"	"986"	"0"	"986"	"0"	"c.986G>A"	"7"	"p.(Cys329Tyr)"	"r.(?)"	""	""	"{ClinVar:226344}"
"0000001047"	"00000047"	"90"	"1132"	"0"	"1132"	"0"	"c.1132C>T"	"8"	"p.(Gln378*)"	"r.(?)"	""	""	"{ClinVar:251683}"
"0000001048"	"00000047"	"90"	"1241"	"0"	"1241"	"0"	"c.1241T>G"	"9"	"p.(Leu414Arg)"	"r.(?)"	""	""	"{ClinVar:251747}"
"0000001049"	"00000047"	"90"	"1432"	"0"	"1432"	"0"	"c.1432G>A"	"10"	"p.(Gly478Arg)"	"r.(?)"	""	""	""
"0000001050"	"00000047"	"90"	"1474"	"0"	"1474"	"0"	"c.1474G>A"	"10"	"p.(Asp492Asn)"	"r.(?)"	""	""	""
"0000001051"	"00000047"	"90"	"2108"	"0"	"2114"	"0"	"c.2108_2114dup"	"14"	"p.(Arg706Alafs*13)"	"r.(?)"	""	""	"{ClinVar:252223}"
"0000001052"	"00000047"	"90"	"829"	"0"	"829"	"0"	"c.829G>A"	"6"	"p.(Glu277Lys)"	"r.(?)"	""	""	""
"0000001053"	"00000047"	"90"	"1132"	"0"	"1132"	"0"	"c.1132C>T"	"8"	"p.(Gln378*)"	"r.(?)"	""	""	"{ClinVar:251683}"
"0000001054"	"00000047"	"00"	"1284"	"0"	"1284"	"0"	"c.1284C>G"	"9"	"p.(Asn428Lys)"	"r.(?)"	""	""	"{ClinVar:251766}"
"0000001055"	"00000047"	"70"	"2132"	"0"	"2132"	"0"	"c.2132G>A"	"14"	"p.(Cys711Tyr)"	"r.(?)"	""	""	"{ClinVar:252229}"
"0000001056"	"00000047"	"70"	"763"	"0"	"763"	"0"	"c.763T>A"	"5"	"p.(Cys255Ser)"	"r.(?)"	""	""	"{ClinVar:251440}"
"0000001057"	"00000047"	"00"	"301"	"0"	"301"	"0"	"c.301G>A"	"3"	"p.(Glu101Lys)"	"r.(?)"	""	""	"{ClinVar:161266}"
"0000001058"	"00000047"	"00"	"910"	"0"	"910"	"0"	"c.910G>A"	"6"	"p.(Asp304Asn)"	"r.(?)"	""	""	"{ClinVar:3692}"
"0000001059"	"00000047"	"90"	"660"	"0"	"660"	"0"	"c.660delC"	"4"	"p.(Asp221Thrfs*44)"	"r.(?)"	""	""	""
"0000001060"	"00000047"	"90"	"2389"	"0"	"2389"	"0"	"c.2389G>A"	"16"	"p.(Val797Met)"	"r.(?)"	""	""	""
"0000001061"	"00000047"	"70"	"2132"	"0"	"2132"	"0"	"c.2132G>A"	"14"	"p.(Cys711Tyr)"	"r.(?)"	""	""	"{ClinVar:252229}"
"0000001062"	"00000047"	"00"	"1586"	"5"	"1586"	"5"	"c.1586+5G>C"	"10i"	"p.?"	"r.spl?"	""	""	"{ClinVar:440652}"
"0000001063"	"00000047"	"00"	"1729"	"0"	"1729"	"0"	"c.1729T>C"	"12"	"p.(Trp577Arg)"	"r.(?)"	""	""	"{ClinVar:252001}"
"0000001064"	"00000047"	"90"	"1241"	"0"	"1241"	"0"	"c.1241T>G"	"9"	"p.(Leu414Arg)"	"r.(?)"	""	""	"{ClinVar:251747}"
"0000001065"	"00000047"	"90"	"2311"	"1"	"2311"	"1"	"c.2311+1G>T"	"15i"	"p.?"	"r.spl?"	""	""	""
"0000001231"	"00000047"	"90"	"268"	"0"	"268"	"0"	"c.268G>A"	"3"	"p.(Asp90Asn)"	"r.(?)"	""	""	"{ClinVar:251105}"
"0000001232"	"00000047"	"90"	"763"	"0"	"763"	"0"	"c.763T>A"	"5"	"p.(Cys255Ser)"	"r.(?)"	""	""	"{ClinVar:251440}"
"0000001233"	"00000047"	"90"	"763"	"0"	"763"	"0"	"c.763T>A"	"5"	"p.(Cys255Ser)"	"r.(?)"	""	""	"{ClinVar:251440}"
"0000001234"	"00000047"	"90"	"1216"	"0"	"1216"	"0"	"c.1216C>T"	"9"	"p.(Arg406Trp)"	"r.(?)"	""	""	""
"0000001235"	"00000047"	"30"	"2209"	"0"	"2209"	"0"	"c.2209A>G"	"15"	"p.(Arg737Gly)"	"r.(?)"	""	""	"{ClinVar:252257}"
"0000001236"	"00000047"	"10"	"1413"	"0"	"1413"	"0"	"c.1413A>G"	"10"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:200916}"
"0000001237"	"00000047"	"10"	"1617"	"0"	"1617"	"0"	"c.1617C>T"	"11"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:251936}"
"0000001238"	"00000047"	"00"	"1773"	"0"	"1773"	"0"	"c.1773C>T"	"12"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:200917}"
"0000001239"	"00000047"	"00"	"1959"	"0"	"1959"	"0"	"c.1959T>C"	"13"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:252131}"
"0000002298"	"00000047"	"70"	"2132"	"0"	"2132"	"0"	"c.2132G>A"	"14"	"p.(Cys711Tyr)"	"r.(?)"	""	""	"Likely pathogenic"
"0000002557"	"00000047"	"90"	"2132"	"0"	"2132"	"0"	"c.2132G>A"	"14"	"p.(Cys711Tyr)"	"r.(?)"	""	""	"Likely pathogenic"
"0000002579"	"00000047"	"90"	"530"	"0"	"530"	"0"	"c.530C>T"	"4"	"p.(Ser177Leu)"	"r.(?)"	""	""	"Pathogenic/Likely pathogenic"
"0000002728"	"00000047"	"90"	"601"	"0"	"601"	"0"	"c.601G>A"	"4"	"p.(Glu201Lys)"	"r.(?)"	""	""	"Likely pathogenic​"
"0000002729"	"00000047"	"90"	"910"	"0"	"910"	"0"	"c.910G>A"	"6"	"p.(Asp304Asn)"	"r.(?)"	""	""	"Pathogenic/Likely pathogenic"
"0000002730"	"00000047"	"90"	"301"	"0"	"301"	"0"	"c.301G>A"	"3"	"p.(Glu101Lys)"	"r.(?)"	""	""	"Pathogenic/Likely pathogenic"
"0000002731"	"00000047"	"90"	"415"	"0"	"415"	"0"	"c.415G>C"	"4"	"p.(Asp139His)"	"r.(?)"	""	""	"Likely pathogenic"
"0000002732"	"00000047"	"90"	"763"	"0"	"763"	"0"	"c.763T>A"	"5"	"p.(Cys255Ser)"	"r.(?)"	""	""	"Likely pathogenic​"
"0000002733"	"00000047"	"90"	"1705"	"117"	"1705"	"117"	"c.1705+117T>G"	"11i"	"p.(=)"	"r.(=)"	""	""	""
"0000002734"	"00000047"	"90"	"940"	"36"	"940"	"36"	"c.940+36G>A"	"6i"	"p.(=)"	"r.(=)"	""	""	"Benign"
"0000002735"	"00000047"	"90"	"190"	"58"	"190"	"58"	"c.190+58C>T"	"2i"	"p.(=)"	"r.(=)"	""	""	""
"0000002736"	"00000047"	"90"	"81"	"0"	"81"	"0"	"c.81C>T"	"2"	"p.(=)"	"r.(=)"	"p.Cys27Cys"	""	"Benign"
"0000002737"	"00000047"	"90"	"1194"	"0"	"1194"	"0"	"c.1194C>T"	"9"	"p.(=)"	"r.(=)"	"p.Ile398Ile"	""	"Conflicting interpretations of pathogenicity"
"0000002738"	"00000047"	"90"	"1060"	"7"	"1060"	"7"	"c.1060+7C>T"	"7i"	"p.(=)"	"r.(=)"	"c.1060+7T>C"	""	"Uncertain significance"
"0000002739"	"00000047"	"90"	"1617"	"0"	"1617"	"0"	"c.1617C>T"	"11"	"p.(=)"	"r.(=)"	"p.Pro539Pro"	""	"Benign"
"0000002740"	"00000047"	"90"	"1705"	"56"	"1705"	"56"	"c.1705+56C>T"	"11i"	"p.(=)"	"r.(=)"	""	""	"Likely benign"
"0000002741"	"00000047"	"90"	"1705"	"112"	"1705"	"112"	"c.1705+112C>G"	"11i"	"p.(=)"	"r.(=)"	""	""	"Likely benign"
"0000002742"	"00000047"	"90"	"1773"	"0"	"1773"	"0"	"c.1773C>T"	"12i"	"p.(=)"	"r.(=)"	"p.Asn591Asn"	""	"Benign/Likely benign​"
"0000002743"	"00000047"	"90"	"2232"	"0"	"2232"	"0"	"c.2232A>G"	"15"	"p.(=)"	"r.(=)"	"p.Arg744Arg"	""	"Benign​"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 95
"{{screeningid}}"	"{{variantid}}"
"0000000210"	"0000000958"
"0000000210"	"0000000959"
"0000000210"	"0000000960"
"0000000210"	"0000000961"
"0000000210"	"0000000962"
"0000000210"	"0000000963"
"0000000210"	"0000000964"
"0000000210"	"0000000965"
"0000000210"	"0000000966"
"0000000210"	"0000000967"
"0000000210"	"0000000968"
"0000000210"	"0000000969"
"0000000210"	"0000000970"
"0000000210"	"0000000971"
"0000000210"	"0000000972"
"0000000210"	"0000000973"
"0000000210"	"0000000974"
"0000000210"	"0000000975"
"0000000210"	"0000000976"
"0000000210"	"0000000977"
"0000000210"	"0000000978"
"0000000210"	"0000000979"
"0000000210"	"0000000980"
"0000000210"	"0000000981"
"0000000210"	"0000000982"
"0000000210"	"0000000983"
"0000000210"	"0000000984"
"0000000210"	"0000000985"
"0000000210"	"0000000986"
"0000000211"	"0000000987"
"0000000211"	"0000000988"
"0000000211"	"0000000989"
"0000000211"	"0000000990"
"0000000211"	"0000000991"
"0000000212"	"0000000992"
"0000000212"	"0000000993"
"0000000214"	"0000001012"
"0000000218"	"0000001036"
"0000000218"	"0000001037"
"0000000218"	"0000001038"
"0000000218"	"0000001039"
"0000000218"	"0000001040"
"0000000218"	"0000001041"
"0000000218"	"0000001042"
"0000000218"	"0000001043"
"0000000219"	"0000001044"
"0000000219"	"0000001045"
"0000000219"	"0000001046"
"0000000219"	"0000001047"
"0000000219"	"0000001048"
"0000000219"	"0000001049"
"0000000219"	"0000001050"
"0000000219"	"0000001051"
"0000000220"	"0000001052"
"0000000221"	"0000001053"
"0000000222"	"0000001054"
"0000000223"	"0000001055"
"0000000223"	"0000001056"
"0000000223"	"0000001057"
"0000000223"	"0000001058"
"0000000223"	"0000001059"
"0000000223"	"0000001060"
"0000000224"	"0000001061"
"0000000225"	"0000001062"
"0000000225"	"0000001063"
"0000000225"	"0000001064"
"0000000226"	"0000001065"
"0000000258"	"0000001231"
"0000000258"	"0000001232"
"0000000258"	"0000001233"
"0000000258"	"0000001234"
"0000000258"	"0000001235"
"0000000258"	"0000001236"
"0000000258"	"0000001237"
"0000000258"	"0000001238"
"0000000258"	"0000001239"
"0000000553"	"0000002298"
"0000000616"	"0000002557"
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