### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SHH)
# 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}}"
"SHH" "sonic hedgehog" "7" "q36" "unknown" "NG_007504.2" "UD_132085237547" "" "https://www.LOVD.nl/SHH" "" "1" "10848" "6469" "600725" "1" "1" "1" "1" "We gratefully acknowledge Aimée Paulussen for acting as a curator until 2016. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-21 12:34:36" "00000" "2022-05-09 15:51:19"
## 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}}"
"00018880" "SHH" "sonic hedgehog" "001" "NM_000193.2" "" "NP_000184.1" "" "" "" "-151" "1425" "1389" "155604967" "155595558" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 14
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40"
"00438" "HPE" "holoprosencephaly (HPE)" "" "236100" "" "" "" "00662" "2014-06-30 10:33:45" "00006" "2015-12-04 07:41:19"
"00645" "ACHP" "acheiropody (ACHP)" "AR" "200500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"00646" "PPD2" "polydactyly, preaxial, type II (PPD-2)" "AD" "174500" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01368" "HPE3" "holoprosencephaly, type 3 (HPE-3)" "AD" "142945" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01399" "SMMCI" "single median maxillary central incisor" "AD" "147250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02064" "-" "Schizencephaly" "" "269160" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03045" "MCOPCB5" "microphthalmia, isolated, with coloboma, type 5 (MCOPCB-5)" "AD" "611638" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" ""
"05128" "HTX" "heterotaxy, visceral (HTX, situs inversus/situs ambiguus)" "" "" "" "" "" "00006" "2016-01-31 12:35:57" "" ""
"05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20"
"05984" "PPD" "polydactyly, preaxial (PPD)" "" "" "" "" "" "00006" "2021-10-28 18:44:04" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{geneid}}" "{{diseaseid}}"
"SHH" "00139"
"SHH" "00438"
"SHH" "01368"
"SHH" "01399"
"SHH" "02064"
"SHH" "03045"
## Individuals ## Do not remove or alter this header ##
## Count = 34
"{{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}}"
"00294378" "" "" "" "173" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00300272" "" "" "" "1" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "M" "no" "France" "00y" "0" "" "" "" "Pt5986"
"00302565" "" "" "" "18" "" "00006" "{PMID:Potuijt 2018:29543231}" "5-generation family, 18 affected (9F, 9M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "Fam1"
"00305137" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00308721" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" ""
"00316184" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected fetus and 1st degree relative" "" "" "France" "" "0" "" "" "" "K9"
"00363791" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "F" "" "China" "" "0" "" "" "" "G408"
"00387359" "" "" "" "96" "" "00006" "{PMID:Zguricas 1999:9950363}, {PMID:Lettice 2003:12837695}" "9-generation family, 96 affected" "F;M" "no" "Netherlands" "" "0" "" "" "" "family"
"00387360" "" "" "" "8" "" "00006" "{PMID:Lettice 2003:12837695}" "4-generation family, 8 affected (4F, 4M)" "F;M" "no" "Belgium" "" "0" "" "" "" "FamBel1"
"00387361" "" "" "" "6" "" "00006" "{PMID:Lettice 2003:12837695}" "4-generation family, 6 affected (F, 5M)" "F;M" "yes" "Belgium" "" "0" "" "" "" "FamBel2"
"00387362" "" "" "" "6" "" "00006" "{PMID:Lettice 2003:12837695}" "family, 6 affected" "" "" "Cuba" "" "0" "" "" "" "FamCub"
"00387363" "" "" "" "2" "" "00006" "{PMID:Wieczorek 2010:19847792}" "4-generation family, affected father/son" "M" "" "Turkey" "" "0" "" "" "" "Fam1PatIII2"
"00387365" "" "" "" "2" "" "00006" "{PMID:Wieczorek 2010:19847792}" "3-generation family, 10 affected" "F;M" "" "Brazil" "" "0" "" "" "" "Fam2"
"00387366" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2010:19847792}" "" "F" "" "Germany" "" "0" "" "" "" "Fam3"
"00387368" "" "" "" "6" "" "00006" "{PMID:Wieczorek 2010:19847792}" "family, 6 affected" "" "" "Turkey" "" "0" "" "" "" "Fam4"
"00387376" "" "" "" "1" "" "00006" "{PMID:Norbnop 2014:24965254}" "1-generation family, 1 affected" "F" "" "Thailand" "" "0" "" "" "" "Fam2PatII1"
"00387377" "" "" "" "3" "" "00006" "{PMID:Norbnop 2014:24965254}" "3-generation family, 3 affecteds (grandfather, father, son)" "M" "" "Thailand" "" "0" "" "" "" "Fam1PatI1"
"00387378" "" "" "00387377" "1" "" "00006" "{PMID:Norbnop 2014:24965254}" "father" "M" "" "Thailand" "" "0" "" "" "" "Fam1PatII1"
"00387379" "" "" "00387377" "1" "" "00006" "{PMID:Norbnop 2014:24965254}" "son" "M" "" "Thailand" "" "0" "" "" "" "Fam1PatIII1"
"00387380" "" "" "" "4" "" "00006" "{PMID:Ianakiev 2001:11090342}" "6-generation family, 4 affected (F/M)" "F" "yes" "Brazil" "" "0" "" "" "" "Fam2PatVI2"
"00387404" "" "" "" "1" "" "00006" "{PMID:Ianakiev 2001:11090342}" "5-generation family, 1 affected" "M" "yes" "Brazil" "" "0" "" "" "" "Fam1PatV3"
"00387405" "" "" "" "7" "" "00006" "{PMID:Ianakiev 2001:11090342}" "4-generation family, 7 affected (4F, 3M)" "M" "yes" "Brazil" "" "0" "" "" "" "Fam4PatIV18"
"00387406" "" "" "" "1" "" "00006" "{PMID:Ianakiev 2001:11090342}" "2-generation family, 1 affected" "M" "yes" "Brazil" "" "0" "" "" "" "Fam3PatII1"
"00387407" "" "" "" "1" "" "00006" "{PMID:Ianakiev 2001:11090342}" "2-generation family, 1 affected" "F" "yes" "Brazil" "" "0" "" "" "" "Fam5PatII1"
"00387425" "" "" "" "27" "" "00006" "{PMID:Sun 2008:18417549}" "6-generation family, 27 affected (11F, 16M)" "F;M" "" "China" "" "0" "" "" "Han" "Fam1"
"00387427" "" "" "" "12" "" "00006" "{PMID:Sun 2008:18417549}" "5-generation family, 12 affected (8F, 4M)" "F;M" "" "China" "" "0" "" "" "Han" "Fam2"
"00387428" "" "" "" "16" "" "00006" "{PMID:Sun 2008:18417549}" "5-generation family, 16 affected (9F, 7M)" "F;M" "" "China" "" "0" "" "" "Han" "Fam3"
"00387429" "" "" "" "6" "" "00006" "{PMID:Sun 2008:18417549}" "4-generation family, 6 affected (3F, 3M)" "F;M" "" "China" "" "0" "" "" "Han" "Fam4"
"00387430" "" "" "" "2" "" "00006" "{PMID:Sun 2008:18417549}" "4-generation family, 2 affected sisters" "F" "" "China" "" "0" "" "" "Han" "Fam5"
"00387431" "" "" "" "21" "" "00006" "{PMID:Wang 2007:17300748}, {PMID:Sun 2008:18417549}" "5-generation family, 21 (5F, 16M)" "F;M" "" "China" "" "0" "" "" "Han" "Fam6"
"00387435" "" "" "" "19" "" "00006" "{PMID:Dobbs 2000:10937618}, {PMID:Gurnett 2007:17152067}" "3-generation family, 19 affected (7F, 12M)" "F;M" "" "United States" "" "0" "" "" "" "?;FamA"
"00387437" "" "" "" "3" "" "00006" "{PMID:Gurnett 2007:17152067}" "3-generation family, 3 affected (2F, M)" "F;M" "" "United States" "" "0" "" "" "" "FamC"
"00387438" "" "" "" "9" "" "00006" "{PMID:Dobbs 2000:10937618}, {PMID:Gurnett 2007:17152067}" "3-generation family, 9 affected (7F, 2M)" "F;M" "" "United States" "" "0" "" "" "" "?;FamB"
"00391785" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "131P"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 37
"{{individualid}}" "{{diseaseid}}"
"00294378" "00198"
"00300272" "00438"
"00300272" "05128"
"00302565" "00646"
"00305137" "00198"
"00308721" "00000"
"00316184" "05342"
"00363791" "04267"
"00387359" "05984"
"00387360" "05984"
"00387361" "05984"
"00387362" "05984"
"00387363" "05984"
"00387365" "00198"
"00387366" "00198"
"00387368" "00198"
"00387376" "00198"
"00387377" "00198"
"00387378" "00198"
"00387379" "00198"
"00387380" "00645"
"00387404" "00645"
"00387405" "00645"
"00387406" "00645"
"00387407" "00645"
"00387425" "00198"
"00387427" "00198"
"00387428" "00198"
"00387429" "00198"
"00387430" "00198"
"00387431" "00198"
"00387435" "00198"
"00387437" "00198"
"00387438" "00198"
"00391785" "00438"
"00391785" "01368"
"00391785" "03045"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00438, 00645, 00646, 01368, 01399, 02064, 03045, 04267, 05128, 05342, 05984
## Count = 31
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000227570" "00438" "00300272" "01195" "Unknown" "00y" "Left pulmonary isomerism, polysplenia, absent tail of pancreas, abdominal situs inversus, left cleft lip and palate, lobar holoproencephaly" "00y" "00y" "00y" "" "" "" "" "" "" "" ""
"0000227571" "05128" "00300272" "01195" "Unknown" "00y" "Left pulmonary isomerism, polysplenia, absent tail of pancreas, abdominal situs inversus, left cleft lip and palate, lobar holoproencephaly" "00y" "00y" "00y" "" "" "" "" "" "" "" ""
"0000229647" "00646" "00302565" "00006" "Familial, autosomal dominant" "" "bilaterally triphalangeal thumb–polysyndactyly syndrome; at least one triphalangeal thumb on both hands, hands poly- and syndactylous block of digits anterior and posterior side, second and occasionally third digit present between both blocks; postaxial syndactyly and polydactyly both feet in patients V-4, V-5, and V-6; no other congenital anomalies" "00y00m01d" "" "" "" "" "" "" "" "" "triphalangeal thumb-polysyndactyly syndrome" ""
"0000239931" "05342" "00316184" "00006" "Unknown" "" "bilateral kidney agenesis" "" "" "" "" "" "" "" "" "" "bilateral kidney agenesis" ""
"0000259138" "04267" "00363791" "00000" "Unknown" "58y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" ""
"0000280923" "05984" "00387359" "00006" "Familial, autosomal dominant" "" "see paper; ..., preaxial polydactyly" "" "" "" "" "" "" "" "" "PPD2" "preaxial polydactyly" ""
"0000280924" "05984" "00387360" "00006" "Familial, autosomal dominant" "" "see paper; ..., preaxial polydactyly" "" "" "" "" "" "" "" "" "PPD2" "preaxial polydactyly" ""
"0000280925" "05984" "00387361" "00006" "Familial, autosomal dominant" "" "see paper; ..., preaxial polydactyly" "" "" "" "" "" "" "" "" "PPD2" "preaxial polydactyly" ""
"0000280926" "05984" "00387362" "00006" "Familial, autosomal dominant" "" "see paper; ..., preaxial polydactyly, tibial aplasia" "" "" "" "" "" "" "" "" "PPD2" "preaxial polydactyly" ""
"0000280927" "05984" "00387363" "00006" "Familial, autosomal dominant" "43y" "see paper; ..., short stature\r\n(height 135 cm (–6.7 SD)), tibial hypoplasia, preaxial polydactyly both hands, femora mildly shortened,\r\nlower legs severely shortened, preaxial polydactyly both feet; father father only right-sided preaxial polydactyly hand" "" "" "" "" "" "" "" "" "PPD2" "preaxial polydactyly" ""
"0000280929" "00198" "00387365" "00006" "Familial, autosomal dominant" "" "see paper; ..., triphalangeal thumbs, preaxial polydactyly feet, tibial defects (2/10), duplicated fibulae (1/10)" "" "" "" "" "" "" "" "" "PPD2" "Werner mesomelic syndrome" ""
"0000280931" "00198" "00387366" "00006" "Isolated (sporadic)" "" "see paper; ..., complete cutaneous syndactyly all fingers, polydactyly, normal mental development" "" "" "" "" "" "" "" "" "" "Haas type polysyndactyly" ""
"0000280933" "00198" "00387368" "00006" "Familial, autosomal dominant" "" "see paper; ..., triphalangeal thumb-polysyndactyly syndrome" "" "" "" "" "" "" "" "" "" "triphalangeal thumb-polysyndactyly syndrome" ""
"0000280939" "00198" "00387376" "00006" "Isolated (sporadic)" "01y" "bilateral triphalangeal first fingers, preaxial digit right hand, right tibial hypoplasia, bilateral toe polydactyly, biphalangeal (left), triphalangeal (right), bifid great toe right" "" "" "" "" "" "" "" "" "" "Werner mesomelic syndrome" ""
"0000280940" "00198" "00387377" "00006" "Familial, autosomal dominant" "58y" "bilateral triphalangeal first fingers, no polydactyly hand, right tibial hypoplasia, bilateral toe polydactyly (triphalangeal), no syndactyly toes" "" "" "" "" "" "" "" "" "" "Werner mesomelic syndrome" ""
"0000280941" "00198" "00387378" "00006" "Familial, autosomal dominant" "32y" "bilateral triphalangeal first fingers, no polydactyly hand, bilateral tibial aplasia, bilateral toe polydactyly (triphalangeal), no syndactyly toes" "" "" "" "" "" "" "" "" "" "Werner mesomelic syndrome" ""
"0000280942" "00198" "00387379" "00006" "Familial, autosomal dominant" "02y" "bilateral triphalangeal first fingers, no polydactyly hand, bilateral tibial aplasia, bilateral toe polydactyly (triphalangeal), no syndactyly toes" "" "" "" "" "" "" "" "" "" "Werner mesomelic syndrome" ""
"0000280943" "00645" "00387380" "00006" "Familial, autosomal recessive" "" "bilateral truncations distal humeri and the tibiae, absence fibulae, presence Bohomoletz bone at distal aspect humeri" "" "" "" "" "" "" "" "" "ACHP" "acheiropody" ""
"0000280967" "00645" "00387404" "00006" "Familial, autosomal recessive" "" "truncation distal humeri, absence Bohomoletz bone, truncation tibiae, absence fibulae" "" "" "" "" "" "" "" "" "ACHP" "acheiropody" ""
"0000280968" "00645" "00387405" "00006" "Familial, autosomal recessive" "" "no feet, no hands, no forearms, some affected possess one digit implanted into each upper extremity, either unilaterally or bilaterally" "" "" "" "" "" "" "" "" "ACHP" "acheiropody" ""
"0000280969" "00645" "00387406" "00006" "Familial, autosomal recessive" "" "truncation distal humeri, absence Bohomoletz bone, truncation tibiae, absence fibulae" "" "" "" "" "" "" "" "" "ACHP" "acheiropody" ""
"0000280970" "00645" "00387407" "00006" "Familial, autosomal recessive" "" "small fingerlike appendages, bilaterally, on X-ray recognized as Bohomoletz bone" "" "" "" "" "" "" "" "" "ACHP" "acheiropody" ""
"0000280988" "00198" "00387425" "00006" "Familial, autosomal dominant" "" "no complete thumb duplication (21/21), partial thumb duplication (12/21), syndactyly fingers 4–5 (11/21), rudimentary postaxial polydactyly (11/21), triphalangeal thumb–polysyndactyly syndrome hand phenotype (5/21), triphalangeal thumbs (2/21), rudimentary postaxial polydactyly (2/21), no foot anomaly (21/21)" "" "" "" "" "" "" "" "" "PPD2" "triphalangeal thumb–polysyndactyly syndrome" ""
"0000280990" "00198" "00387427" "00006" "Familial, autosomal dominant" "" "typical TPTPS hand phenotype (1/12); complete syndactyly between index finger and duplicated thumbs with deformed distal phalanges, complete syndactyly fingers 3–5 (1/12); complete syndactyly all fingers resembling SD4 (10/12); unilateral syndactyly toes (1/12)" "" "" "" "" "" "" "" "" "PPD2" "triphalangeal thumb-polysyndactyly syndrome" ""
"0000280991" "00198" "00387428" "00006" "Familial, autosomal dominant" "" "typical triphalangeal thumb–polysyndactyly syndrome (1/7); complete duplication triphalangeal thumbs, complete syndactyly fingers 2–5 (1/12); almost complete syndactyly all six triphalangeal fingers (5/7)); bilateral or unilateral syndactyly toes 4–5 (3/7)" "" "" "" "" "" "" "" "" "PPD2" "triphalangeal thumb–polysyndactyly syndrome" ""
"0000280992" "00198" "00387429" "00006" "Familial, autosomal dominant" "" "typical triphalangeal thumb–polysyndactyly syndrome (3/4); partial syndactyly between index finger and duplicated thumbs, complete syndactyly fingers 3–5 (1/4)" "" "" "" "" "" "" "" "" "PPD2" "triphalangeal thumb–polysyndactyly syndrome" ""
"0000280993" "00198" "00387430" "00006" "Familial, autosomal dominant" "" "cutaneous syndactyly all fingers, polydactyly" "" "" "" "" "" "" "" "" "PPD2" "syndactyly type IV" ""
"0000280994" "00198" "00387431" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPD2" "triphalangeal thumb–polysyndactyly syndrome" ""
"0000280998" "00198" "00387435" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPD2" "isolated triphalangeal thumb" ""
"0000281000" "00198" "00387437" "00006" "Familial, autosomal dominant" "" "see paper; ..., triphalangeal thumb (2/3); bilateral triphalangeal thumb, polydactyly (1/3)" "" "" "" "" "" "" "" "" "PPD2" "triphalangeal thumb" ""
"0000281001" "00198" "00387438" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PPD2" "triphalangeal thumb" ""
## Screenings ## Do not remove or alter this header ##
## Count = 34
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000295546" "00294378" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000301390" "00300272" "1" "01195" "01195" "2020-04-26 12:48:24" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" ""
"0000303687" "00302565" "1" "00006" "00006" "2020-05-25 10:26:21" "00006" "2020-05-25 10:31:15" "arraySNP;MLPA;SEQ;SEQ-NG" "DNA" "" "WES"
"0000306266" "00305137" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000309866" "00308721" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES"
"0000317366" "00316184" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel"
"0000365019" "00363791" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000388586" "00387359" "1" "00006" "00006" "2021-10-28 18:47:54" "" "" "SEQ" "DNA" "" ""
"0000388587" "00387360" "1" "00006" "00006" "2021-10-28 19:01:59" "" "" "SEQ" "DNA" "" ""
"0000388588" "00387361" "1" "00006" "00006" "2021-10-28 19:07:16" "" "" "SEQ" "DNA" "" ""
"0000388589" "00387362" "1" "00006" "00006" "2021-10-28 19:13:22" "" "" "SEQ" "DNA" "" ""
"0000388590" "00387363" "1" "00006" "00006" "2021-10-28 19:25:20" "" "" "SEQ" "DNA" "" ""
"0000388591" "00387365" "1" "00006" "00006" "2021-10-28 19:25:20" "" "" "SEQ" "DNA" "" ""
"0000388592" "00387366" "1" "00006" "00006" "2021-10-28 19:44:46" "" "" "arrayCGH" "DNA" "" ""
"0000388595" "00387368" "1" "00006" "00006" "2021-10-28 19:59:11" "" "" "arrayCGH" "DNA" "" ""
"0000388602" "00387376" "1" "00006" "00006" "2021-10-29 08:52:46" "" "" "SEQ" "DNA" "" ""
"0000388603" "00387377" "1" "00006" "00006" "2021-10-29 09:02:33" "" "" "SEQ" "DNA" "" ""
"0000388604" "00387378" "1" "00006" "00006" "2021-10-29 09:07:04" "" "" "SEQ" "DNA" "" ""
"0000388605" "00387379" "1" "00006" "00006" "2021-10-29 09:11:20" "" "" "SEQ" "DNA" "" ""
"0000388606" "00387380" "1" "00006" "00006" "2021-10-29 09:26:20" "00006" "2021-10-29 09:40:25" "microsat;PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000388630" "00387404" "1" "00006" "00006" "2021-10-29 09:45:29" "" "" "microsat;PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000388631" "00387405" "1" "00006" "00006" "2021-10-29 09:48:39" "" "" "microsat;PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000388632" "00387406" "1" "00006" "00006" "2021-10-29 09:52:36" "" "" "microsat;PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000388633" "00387407" "1" "00006" "00006" "2021-10-29 09:55:12" "" "" "microsat;PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000388651" "00387425" "1" "00006" "00006" "2021-10-29 11:21:17" "" "" "microsat;PCR" "DNA" "" ""
"0000388653" "00387427" "1" "00006" "00006" "2021-10-29 11:21:17" "" "" "microsat;PCR" "DNA" "" ""
"0000388654" "00387428" "1" "00006" "00006" "2021-10-29 11:21:17" "" "" "microsat;PCR" "DNA" "" ""
"0000388655" "00387429" "1" "00006" "00006" "2021-10-29 11:21:17" "" "" "microsat;PCR" "DNA" "" ""
"0000388656" "00387430" "1" "00006" "00006" "2021-10-29 11:21:17" "" "" "microsat;PCR" "DNA" "" ""
"0000388657" "00387431" "1" "00006" "00006" "2021-10-29 11:21:17" "" "" "microsat;PCR" "DNA" "" ""
"0000388661" "00387435" "1" "00006" "00006" "2021-10-29 12:38:26" "" "" "SEQ" "DNA" "" ""
"0000388663" "00387437" "1" "00006" "00006" "2021-10-29 12:38:26" "" "" "SEQ" "DNA" "" ""
"0000388664" "00387438" "1" "00006" "00006" "2021-10-29 12:38:26" "" "" "SEQ" "DNA" "" ""
"0000393028" "00391785" "1" "02494" "02494" "2021-11-19 10:11:35" "" "" "SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 19
"{{screeningid}}" "{{geneid}}"
"0000301390" "SHH"
"0000303687" "LMBR1"
"0000309866" "SHH"
"0000317366" "SHH"
"0000365019" "SHH"
"0000388606" "LMBR1"
"0000388630" "LMBR1"
"0000388631" "LMBR1"
"0000388632" "LMBR1"
"0000388633" "LMBR1"
"0000388651" "LMBR1"
"0000388653" "LMBR1"
"0000388654" "LMBR1"
"0000388655" "LMBR1"
"0000388656" "LMBR1"
"0000388657" "LMBR1"
"0000388661" "LMBR1"
"0000388663" "LMBR1"
"0000388664" "LMBR1"
## 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 = 86
"{{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}}"
"0000037958" "0" "95" "7" "155604805" "155604808" "dup" "0" "00662" "SHH_000001" "g.155604805_155604808dup" "" "{PMID: Nanni et al.1999:10556296}" "" "" "Alobar" "Unknown" "" "" "0" "" "" "g.155812111_155812114dup" "" "pathogenic" ""
"0000037959" "21" "99" "7" "155604800" "155604800" "subst" "0" "00662" "SHH_000002" "g.155604800C>G" "" "{PMID:Dubourg et al. 2004:15221788}" "" "" "Alobar" "Germline" "" "" "0" "" "" "g.155812106C>G" "" "pathogenic" ""
"0000037960" "21" "99" "7" "155604778" "155604785" "del" "0" "00662" "SHH_000003" "g.155604778_155604785del" "" "{PMID:Nanni et al. 1999:10556296}" "" "" "Alobar" "Germline" "" "" "0" "" "" "g.155812084_155812091del" "" "pathogenic" ""
"0000308070" "0" "30" "7" "155595901" "155595901" "subst" "0" "01943" "SHH_000005" "g.155595901G>A" "" "" "" "SHH(NM_000193.3):c.1082C>T (p.A361V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155803207G>A" "" "likely benign" ""
"0000308071" "0" "50" "7" "155596114" "155596114" "subst" "0.00326689" "01943" "SHH_000007" "g.155596114C>T" "" "" "" "SHH(NM_000193.3):c.869G>A (p.G290D), SHH(NM_000193.4):c.869G>A (p.G290D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155803420C>T" "" "VUS" ""
"0000345960" "0" "30" "7" "155596114" "155596114" "subst" "0.00326689" "02327" "SHH_000007" "g.155596114C>T" "" "" "" "SHH(NM_000193.3):c.869G>A (p.G290D), SHH(NM_000193.4):c.869G>A (p.G290D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155803420C>T" "" "likely benign" ""
"0000531487" "0" "30" "7" "155592835" "155592835" "subst" "0.000317066" "01943" "SHH_000009" "g.155592835C>T" "" "" "" "SHH(NM_001310462.1):c.406G>A (p.G136R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155800141C>T" "" "likely benign" ""
"0000531489" "0" "30" "7" "155595805" "155595805" "subst" "0.000229218" "01804" "SHH_000011" "g.155595805G>C" "" "" "" "SHH(NM_000193.2):c.1178C>G (p.(Ala393Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803111G>C" "" "likely benign" ""
"0000531490" "0" "70" "7" "155595838" "155595838" "subst" "0" "02327" "SHH_000012" "g.155595838A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803144A>G" "" "likely pathogenic" ""
"0000531491" "0" "90" "7" "155595912" "155595912" "subst" "0" "02327" "SHH_000013" "g.155595912G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803218G>T" "" "pathogenic" ""
"0000531492" "0" "70" "7" "155595928" "155595928" "subst" "0" "02327" "SHH_000014" "g.155595928C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803234C>A" "" "likely pathogenic" ""
"0000531493" "0" "90" "7" "155595946" "155595946" "subst" "0" "02327" "SHH_000015" "g.155595946G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803252G>A" "" "pathogenic" ""
"0000531494" "0" "50" "7" "155595960" "155595960" "subst" "0" "02327" "SHH_000016" "g.155595960G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803266G>A" "" "VUS" ""
"0000531495" "0" "90" "7" "155596046" "155596046" "subst" "0" "02327" "SHH_000017" "g.155596046G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803352G>A" "" "pathogenic" ""
"0000531496" "0" "30" "7" "155596086" "155596086" "subst" "0.000288422" "02327" "SHH_000018" "g.155596086C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803392C>G" "" "likely benign" ""
"0000531497" "0" "30" "7" "155596114" "155596114" "subst" "0.00326689" "02326" "SHH_000007" "g.155596114C>T" "" "" "" "SHH(NM_000193.3):c.869G>A (p.G290D), SHH(NM_000193.4):c.869G>A (p.G290D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803420C>T" "" "likely benign" ""
"0000531498" "0" "30" "7" "155596143" "155596143" "subst" "0" "01943" "SHH_000019" "g.155596143C>T" "" "" "" "SHH(NM_000193.3):c.840G>A (p.S280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803449C>T" "" "likely benign" ""
"0000531499" "0" "10" "7" "155596155" "155596155" "subst" "0" "02330" "SHH_000020" "g.155596155C>A" "" "" "" "SHH(NM_000193.3):c.828G>T (p.P276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803461C>A" "" "benign" ""
"0000531500" "0" "90" "7" "155596275" "155596275" "subst" "0" "02327" "SHH_000021" "g.155596275G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803581G>T" "" "pathogenic" ""
"0000531501" "0" "90" "7" "155596307" "155596307" "subst" "0.0000309239" "02327" "SHH_000022" "g.155596307C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803613C>T" "" "pathogenic" ""
"0000531502" "0" "10" "7" "155596413" "155596413" "subst" "0.00509118" "01943" "SHH_000023" "g.155596413C>T" "" "" "" "SHH(NM_000193.3):c.570G>A (p.S190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803719C>T" "" "benign" ""
"0000531503" "0" "70" "7" "155599115" "155599115" "subst" "0" "02327" "SHH_000024" "g.155599115A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155806421A>C" "" "likely pathogenic" ""
"0000531504" "0" "90" "7" "155599139" "155599140" "del" "0" "02327" "SHH_000025" "g.155599139_155599140del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155806445_155806446del" "" "pathogenic" ""
"0000531505" "0" "90" "7" "155599248" "155599248" "subst" "0" "02327" "SHH_000026" "g.155599248A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155806554A>G" "" "pathogenic" ""
"0000531507" "0" "30" "7" "155604604" "155604604" "subst" "0.0000730899" "01943" "SHH_000028" "g.155604604C>T" "" "" "" "SHH(NM_000193.3):c.213G>A (p.E71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155811910C>T" "" "likely benign" ""
"0000531508" "0" "50" "7" "155604634" "155604634" "subst" "0.000267996" "02327" "SHH_000008" "g.155604634C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155811940C>A" "" "VUS" ""
"0000531509" "0" "90" "7" "155604654" "155604672" "del" "0" "02327" "SHH_000029" "g.155604654_155604672del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155811960_155811978del" "" "pathogenic" ""
"0000610999" "0" "90" "7" "155595797" "155595800" "del" "0" "01943" "SHH_000031" "g.155595797_155595800del" "" "" "" "SHH(NM_000193.3):c.1185_1188delGGAC (p.D396Afs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803103_155803106del" "" "pathogenic" ""
"0000611000" "0" "10" "7" "155596114" "155596114" "subst" "0.00326689" "02330" "SHH_000007" "g.155596114C>T" "" "" "" "SHH(NM_000193.3):c.869G>A (p.G290D), SHH(NM_000193.4):c.869G>A (p.G290D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803420C>T" "" "benign" ""
"0000611001" "0" "10" "7" "155596353" "155596353" "subst" "0.00260407" "02330" "SHH_000032" "g.155596353G>A" "" "" "" "SHH(NM_000193.3):c.630C>T (p.G210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803659G>A" "" "benign" ""
"0000611002" "0" "10" "7" "155596413" "155596413" "subst" "0.00509118" "02330" "SHH_000023" "g.155596413C>T" "" "" "" "SHH(NM_000193.3):c.570G>A (p.S190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803719C>T" "" "benign" ""
"0000611003" "0" "70" "7" "155599067" "155599067" "subst" "0" "02327" "SHH_000033" "g.155599067G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155806373G>A" "" "likely pathogenic" ""
"0000611004" "0" "90" "7" "155604588" "155604588" "dup" "0" "02327" "SHH_000035" "g.155604588dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155811894dup" "" "pathogenic" ""
"0000621868" "0" "10" "7" "155599268" "155599268" "subst" "0.000439673" "02330" "SHH_000034" "g.155599268A>T" "" "" "" "SHH(NM_000193.3):c.301-17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155806574A>T" "" "benign" ""
"0000652235" "1" "10" "7" "155604941" "155604941" "subst" "0" "03575" "SHH_000036" "g.155604941C>T" "173/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "173 heterozygous; {DB:CLININrs9333594}" "Germline" "" "rs9333594" "0" "" "" "g.155812247C>T" "" "benign" ""
"0000655800" "0" "30" "7" "155596114" "155596114" "subst" "0.00326689" "02325" "SHH_000007" "g.155596114C>T" "" "" "" "SHH(NM_000193.3):c.869G>A (p.G290D), SHH(NM_000193.4):c.869G>A (p.G290D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155803420C>T" "" "likely benign" ""
"0000655801" "0" "10" "7" "155604500" "155604500" "subst" "0.00105981" "02330" "SHH_000037" "g.155604500C>T" "" "" "" "SHH(NM_000193.3):c.300+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155811806C>T" "" "benign" ""
"0000664320" "0" "70" "7" "155599203" "155599204" "dup" "0" "01195" "SHH_000038" "g.155599203_155599204dup" "1/80 patients" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "Germline" "?" "" "" "" "" "g.155806509_155806510dup" "" "pathogenic" ""
"0000667055" "1" "90" "7" "156585476" "156585476" "subst" "0" "00006" "LMBR1_000018" "g.156585476C>G" "" "{PMID:Potuijt 2018:29543231}" "" "" "mapped by linkage LOD score 3.0; variant in evolutionary conserved pZRS region; functional characterization mouse transgenic enhancer assay showed extended ectopic expression dispersed throughout entire limb bud (E11.5)" "Germline" "yes" "" "0" "" "" "g.156792782C>G" "" "pathogenic (dominant)" ""
"0000669954" "3" "10" "7" "155604941" "155604941" "subst" "0" "03575" "SHH_000036" "g.155604941C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs9333594}" "Germline" "" "rs9333594" "0" "" "" "g.155812247C>T" "" "benign" ""
"0000678056" "0" "50" "7" "155592798" "155592798" "subst" "0" "01943" "SHH_000039" "g.155592798A>C" "" "" "" "SHH(NM_001310462.1):c.443T>G (p.L148W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000678057" "0" "30" "7" "155596104" "155596104" "subst" "0" "01943" "SHH_000040" "g.155596104C>T" "" "" "" "SHH(NM_000193.3):c.879G>A (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678058" "0" "90" "7" "155604740" "155604740" "subst" "0" "02327" "SHH_000041" "g.155604740G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000684768" "0" "30" "7" "155596114" "155596114" "subst" "0.00326689" "00004" "SHH_000007" "g.155596114C>T" "frequency 0.024" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.155803420C>T" "" "likely benign" ""
"0000689963" "0" "50" "7" "155592902" "155592902" "subst" "0.000020849" "01943" "SHH_000042" "g.155592902G>C" "" "" "" "SHH(NM_001310462.1):c.339C>G (p.Y113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000689964" "0" "30" "7" "155595802" "155595802" "subst" "0.0000396448" "01943" "SHH_000043" "g.155595802C>T" "" "" "" "SHH(NM_000193.3):c.1181G>A (p.R394H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689965" "0" "30" "7" "155596107" "155596107" "subst" "0.000212639" "01943" "SHH_000044" "g.155596107C>T" "" "" "" "SHH(NM_000193.3):c.876G>A (p.G292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000699890" "0" "50" "7" "" "" "" "" "00006" "EZH2_000001" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000721385" "0" "70" "7" "155596086" "155596086" "del" "0" "02327" "SHH_000045" "g.155596086del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000721386" "0" "50" "7" "155599001" "155599001" "subst" "0" "01943" "SHH_000046" "g.155599001G>A" "" "" "" "SHH(NM_000193.3):c.551C>T (p.S184L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721387" "0" "50" "7" "155599010" "155599010" "subst" "0" "02329" "SHH_000047" "g.155599010A>G" "" "" "" "SHH(NM_000193.3):c.542T>C (p.I181T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000765969" "0" "70" "7" "155596301" "155596301" "subst" "0" "00000" "SHH_000048" "g.155596301C>T" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.155803607C>T" "" "likely pathogenic" ""
"0000803069" "0" "50" "7" "155592770" "155592770" "subst" "0" "02325" "SHH_000049" "g.155592770G>T" "" "" "" "SHH(NM_001310462.2):c.471C>A (p.C157*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803070" "0" "50" "7" "155595883" "155595883" "subst" "0" "02327" "SHH_000050" "g.155595883A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803071" "0" "50" "7" "155599065" "155599065" "subst" "0" "02327" "SHH_000051" "g.155599065G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803072" "0" "70" "7" "155599122" "155599122" "subst" "0" "02327" "SHH_000052" "g.155599122G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000803073" "0" "30" "7" "155604773" "155604773" "subst" "0.0000203037" "01943" "SHH_000053" "g.155604773G>C" "" "" "" "SHH(NM_000193.3):c.44C>G (p.S15W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000817286" "1" "90" "7" "156584465" "156584465" "subst" "0" "00006" "LMBR1_000007" "g.156584465G>C" "" "{PMID:Lettice 2003:12837695}" "" "ZRS 105C>G" "not in 1354 control chromosomes; variant in SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817287" "1" "90" "7" "156584265" "156584265" "subst" "0" "00006" "LMBR1_000022" "g.156584265T>A" "" "{PMID:Lettice 2003:12837695}" "" "ZRS 305A>T" "variant in SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817288" "1" "90" "7" "156584241" "156584241" "subst" "0" "00006" "LMBR1_000023" "g.156584241A>G" "" "{PMID:Lettice 2003:12837695}" "" "ZRS 323T>C" "variant in SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817289" "1" "90" "7" "156584166" "156584166" "subst" "0" "00006" "LMBR1_000024" "g.156584166C>T" "" "{PMID:Lettice 2003:12837695}" "" "ZRS 404G>A" "variant in SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817290" "11" "90" "7" "156584166" "156584166" "subst" "0" "00006" "LMBR1_000024" "g.156584166C>T" "" "{PMID:Wieczorek 2010:19847792}" "" "g.105213G>A" "variant in SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817291" "11" "90" "7" "156584166" "156584166" "subst" "0" "00006" "LMBR1_000031" "g.156584166C>G" "" "{PMID:Wieczorek 2010:19847792}" "" "g.105213G>C" "variant in SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817293" "0" "90" "7" "156572722" "156661848" "dup" "0" "00006" "LMBR1_000025" "g.(156572692_156572751)_(156661818_156661877)dup" "" "{PMID:Wieczorek 2010:19847792}" "" "" "73kb duplication; variant covers SHH regulatory element" "Germline/De novo (untested)" "" "" "0" "" "hg18 arr7q36.3(156,265,512x2,156,265,453–156,354,638x3,156,354,579x2)" "g.(156779998_156780057)_(156869124_156869183)dup" "" "pathogenic (dominant)" ""
"0000817294" "1" "90" "7" "156382304" "156661848" "dup" "0" "00006" "LMBR1_000026" "g.(156368541_156396066)_(156661818_156661877)dup" "" "{PMID:Wieczorek 2010:19847792}" "" "hg18 arr7q36.3 (156,061,302x2,156,088,827–156,354,638x3,156,354,579x2)" "276kb duplication; variant covering SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817300" "0" "90" "7" "156584166" "156584166" "subst" "0" "00006" "LMBR1_000024" "g.156584166C>T" "" "{PMID:Norbnop 2014:24965254}" "" "ZRS 404G>A" "variant in SHH regulatory element" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817301" "0" "90" "7" "156584164" "156584164" "subst" "0" "00006" "LMBR1_000027" "g.156584164T>C" "" "{PMID:Norbnop 2014:24965254}" "" "" "variant in SHH regulatory element" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817302" "11" "90" "7" "156584164" "156584164" "subst" "0" "00006" "LMBR1_000027" "g.156584164T>C" "" "{PMID:Norbnop 2014:24965254}" "" "ZRS 406A>G" "variant in SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817303" "11" "90" "7" "156584164" "156584164" "subst" "0" "00006" "LMBR1_000027" "g.156584164T>C" "" "{PMID:Norbnop 2014:24965254}" "" "ZRS 406A>G" "variant in SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817304" "3" "90" "7" "156616199" "156621288" "del" "0" "00006" "LMBR1_000028" "g.(156615799_156616599)_(156620638_156621938)del" "" "{PMID:Ianakiev 2001:11090342}" "" "1.2–2.5kb 5′exon 4 2.7–3.5kb 3′" "variant may influence SHH expression" "Germline" "yes" "" "0" "" "" "g.(156823105_156823905)_(156827944_156829244)del" "" "pathogenic (recessive)" ""
"0000817350" "3" "90" "7" "156616199" "156621288" "del" "0" "00006" "LMBR1_000028" "g.(156615799_156616599)_(156620638_156621938)del" "" "{PMID:Ianakiev 2001:11090342}" "" "1.2–2.5kb 5′exon 4 2.7–3.5kb 3′" "variant may influence SHH expression" "Germline" "yes" "" "0" "" "" "g.(156823105_156823905)_(156827944_156829244)del" "" "pathogenic (recessive)" ""
"0000817351" "3" "90" "7" "156616199" "156621288" "del" "0" "00006" "LMBR1_000028" "g.(156615799_156616599)_(156620638_156621938)del" "" "{PMID:Ianakiev 2001:11090342}" "" "1.2–2.5kb 5′exon 4 2.7–3.5kb 3′" "variant may influence SHH expression" "Germline" "yes" "" "0" "" "" "g.(156823105_156823905)_(156827944_156829244)del" "" "pathogenic (recessive)" ""
"0000817352" "3" "90" "7" "156616199" "156621288" "del" "0" "00006" "LMBR1_000028" "g.(156615799_156616599)_(156620638_156621938)del" "" "{PMID:Ianakiev 2001:11090342}" "" "1.2–2.5kb 5′exon 4 2.7–3.5kb 3′" "variant may influence SHH expression" "Germline" "yes" "" "0" "" "" "g.(156823105_156823905)_(156827944_156829244)del" "" "pathogenic (recessive)" ""
"0000817353" "3" "90" "7" "156616199" "156621288" "del" "0" "00006" "LMBR1_000028" "g.(156615799_156616599)_(156620638_156621938)del" "" "{PMID:Ianakiev 2001:11090342}" "" "1.2–2.5kb 5′exon 4 2.7–3.5kb 3′" "variant may influence SHH expression" "Germline" "yes" "" "0" "" "" "g.(156823105_156823905)_(156827944_156829244)del" "" "pathogenic (recessive)" ""
"0000817374" "1" "90" "7" "156548045" "156693753" "dup" "0" "00006" "LMBR1_000029" "g.(156539711_156556378)_(156687612_156699894)dup" "" "{PMID:Sun 2008:18417549}" "" "" "variant may affect SHH expression" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817375" "1" "90" "7" "156297607" "156661430" "dup" "0" "00006" "LMBR1_000036" "g.(156241127_156354086)_(156645102_156677758)dup" "" "{PMID:Sun 2008:18417549}" "" "" "variant may affect SHH expression" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817376" "1" "90" "7" "156392807" "156604216" "dup" "0" "00006" "LMBR1_000034" "g.(156354234_156431379)_(156589132_156619299)dup" "" "{PMID:Sun 2008:18417549}" "" "" "variant may affect SHH expression" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817377" "1" "90" "7" "156392807" "156682626" "dup" "0" "00006" "LMBR1_000035" "g.(156354234_156431379)_(156677758_156687494)dup" "" "{PMID:Sun 2008:18417549}" "" "" "variant may affect SHH expression" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817378" "1" "90" "7" "156297607" "156604216" "dup" "0" "00006" "LMBR1_000032" "g.(156241127_156354086)_(156589132_156619299)dup" "" "{PMID:Sun 2008:18417549}" "" "" "variant may affect SHH expression" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817379" "1" "90" "7" "156241021" "156693753" "dup" "0" "00006" "LMBR1_000033" "g.(?_156241021)_(156687612_156699894)dup" "" "{PMID:Sun 2008:18417549}" "" "" "variant may affect SHH expression" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817385" "1" "90" "7" "156583831" "156583831" "subst" "0" "00006" "LMBR1_000037" "g.156583831T>C" "" "{PMID:Gurnett 2007:17152067}" "" "ZRS 739A>G" "variant in SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817387" "1" "90" "7" "156583831" "156583831" "subst" "0" "00006" "LMBR1_000037" "g.156583831T>C" "" "{PMID:Gurnett 2007:17152067}" "" "ZRS 739A>G" "variant in SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817389" "1" "90" "7" "156583949" "156583949" "subst" "0" "00006" "LMBR1_000007" "g.156583949G>C" "" "{PMID:Gurnett 2007:17152067}" "" "ZRS 621C>G" "variant in SHH regulatory element" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000823614" "0" "70" "7" "155595681" "155595681" "subst" "0" "02494" "SHH_000054" "g.155595681C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000851564" "0" "30" "7" "155592873" "155592873" "subst" "0.000686166" "01943" "SHH_000055" "g.155592873G>A" "" "" "" "SHH(NM_001310462.1):c.368C>T (p.P123L), SHH(NM_001310462.2):c.368C>T (p.P123L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860711" "0" "30" "7" "155592873" "155592873" "subst" "0.000686166" "02330" "SHH_000055" "g.155592873G>A" "" "" "" "SHH(NM_001310462.1):c.368C>T (p.P123L), SHH(NM_001310462.2):c.368C>T (p.P123L)" "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 SHH
## Count = 86
"{{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/Variant/Type}}"
"0000037958" "00018880" "99" "11" "0" "14" "0" "c.11_14dup" "r.(?)" "p.(Arg6Glyfs*59)" "1" ""
"0000037959" "00018880" "99" "17" "0" "17" "0" "c.17G>C" "r.(?)" "p.(Arg6Thr)" "1" ""
"0000037960" "00018880" "99" "38" "0" "45" "0" "c.38_45del" "r.(?)" "p.(Val13Alafs*48)" "1" "deletion, small"
"0000308070" "00018880" "30" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Ala361Val)" "" ""
"0000308071" "00018880" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Gly290Asp)" "" ""
"0000345960" "00018880" "30" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Gly290Asp)" "" ""
"0000531487" "00018880" "30" "4148" "0" "4148" "0" "c.*2759G>A" "r.(=)" "p.(=)" "" ""
"0000531489" "00018880" "30" "1178" "0" "1178" "0" "c.1178C>G" "r.(?)" "p.(Ala393Gly)" "" ""
"0000531490" "00018880" "70" "1145" "0" "1145" "0" "c.1145T>C" "r.(?)" "p.(Leu382Pro)" "" ""
"0000531491" "00018880" "90" "1071" "0" "1071" "0" "c.1071C>A" "r.(?)" "p.(Asn357Lys)" "" ""
"0000531492" "00018880" "70" "1055" "0" "1055" "0" "c.1055G>T" "r.(?)" "p.(Gly352Val)" "" ""
"0000531493" "00018880" "90" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" "" ""
"0000531494" "00018880" "50" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Ala341=)" "" ""
"0000531495" "00018880" "90" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Gln313Ter)" "" ""
"0000531496" "00018880" "30" "897" "0" "897" "0" "c.897G>C" "r.(?)" "p.(Leu299=)" "" ""
"0000531497" "00018880" "30" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Gly290Asp)" "" ""
"0000531498" "00018880" "30" "840" "0" "840" "0" "c.840G>A" "r.(?)" "p.(Ser280=)" "" ""
"0000531499" "00018880" "10" "828" "0" "828" "0" "c.828G>T" "r.(?)" "p.(Pro276=)" "" ""
"0000531500" "00018880" "90" "708" "0" "708" "0" "c.708C>A" "r.(?)" "p.(Ser236Arg)" "" ""
"0000531501" "00018880" "90" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Ala226Thr)" "" ""
"0000531502" "00018880" "10" "570" "0" "570" "0" "c.570G>A" "r.(?)" "p.(Ser190=)" "" ""
"0000531503" "00018880" "70" "437" "0" "437" "0" "c.437T>G" "r.(?)" "p.(Val146Gly)" "" ""
"0000531504" "00018880" "90" "415" "0" "416" "0" "c.415_416del" "r.(?)" "p.(Leu139AlafsTer13)" "" ""
"0000531505" "00018880" "90" "304" "0" "304" "0" "c.304T>C" "r.(?)" "p.(Cys102Arg)" "" ""
"0000531507" "00018880" "30" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(Glu71=)" "" ""
"0000531508" "00018880" "50" "183" "0" "183" "0" "c.183G>T" "r.(?)" "p.(Arg61Ser)" "" ""
"0000531509" "00018880" "90" "148" "0" "166" "0" "c.148_166del" "r.(?)" "p.(Asn50Ter)" "" ""
"0000610999" "00018880" "90" "1185" "0" "1188" "0" "c.1185_1188del" "r.(?)" "p.(Asp396AlafsTer17)" "" ""
"0000611000" "00018880" "10" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Gly290Asp)" "" ""
"0000611001" "00018880" "10" "630" "0" "630" "0" "c.630C>T" "r.(?)" "p.(Gly210=)" "" ""
"0000611002" "00018880" "10" "570" "0" "570" "0" "c.570G>A" "r.(?)" "p.(Ser190=)" "" ""
"0000611003" "00018880" "70" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Ala162Val)" "" ""
"0000611004" "00018880" "90" "229" "0" "229" "0" "c.229dup" "r.(?)" "p.(Thr77AsnfsTer11)" "" ""
"0000621868" "00018880" "10" "301" "-17" "301" "-17" "c.301-17T>A" "r.(=)" "p.(=)" "" ""
"0000652235" "00018880" "10" "-125" "0" "-125" "0" "c.-125G>A" "r.(=)" "p.(=)" "" ""
"0000655800" "00018880" "30" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Gly290Asp)" "" ""
"0000655801" "00018880" "10" "300" "17" "300" "17" "c.300+17G>A" "r.(=)" "p.(=)" "" ""
"0000664320" "00018880" "70" "349" "0" "350" "0" "c.349_350dup" "r.(349_350dup)" "p.Trp117Cysfs*5" "2" "duplication, small"
"0000667055" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000669954" "00018880" "10" "-125" "0" "-125" "0" "c.-125G>A" "r.(=)" "p.(=)" "" ""
"0000678056" "00018880" "50" "4185" "0" "4185" "0" "c.*2796T>G" "r.(=)" "p.(=)" "" ""
"0000678057" "00018880" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Pro293=)" "" ""
"0000678058" "00018880" "90" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" ""
"0000684768" "00018880" "30" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Gly290Asp)" "" ""
"0000689963" "00018880" "50" "4081" "0" "4081" "0" "c.*2692C>G" "r.(=)" "p.(=)" "" ""
"0000689964" "00018880" "30" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "" ""
"0000689965" "00018880" "30" "876" "0" "876" "0" "c.876G>A" "r.(?)" "p.(Gly292=)" "" ""
"0000699890" "00018880" "50" "" "0" "" "0" "c.?" "r.(?)" "p.(Val366Ala)" "" ""
"0000721385" "00018880" "70" "900" "0" "900" "0" "c.900del" "r.(?)" "p.(Pro301Leufs*35)" "" ""
"0000721386" "00018880" "50" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Ser184Leu)" "" ""
"0000721387" "00018880" "50" "542" "0" "542" "0" "c.542T>C" "r.(?)" "p.(Ile181Thr)" "" ""
"0000765969" "00018880" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Asp228Asn)" "" ""
"0000803069" "00018880" "50" "4213" "0" "4213" "0" "c.*2824C>A" "r.(=)" "p.(=)" "" ""
"0000803070" "00018880" "50" "1100" "0" "1100" "0" "c.1100T>A" "r.(?)" "p.(Ile367Asn)" "" ""
"0000803071" "00018880" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" ""
"0000803072" "00018880" "70" "430" "0" "430" "0" "c.430C>G" "r.(?)" "p.(Arg144Gly)" "" ""
"0000803073" "00018880" "30" "44" "0" "44" "0" "c.44C>G" "r.(?)" "p.(Ser15Trp)" "" ""
"0000817286" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817287" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817288" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817289" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817290" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817291" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817293" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "" ""
"0000817294" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817300" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817301" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817302" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817303" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817304" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817350" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817351" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817352" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817353" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817374" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817375" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817376" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817377" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817378" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817379" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817385" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817387" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000817389" "00018880" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" ""
"0000823614" "00018880" "70" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(Trp434*)" "" ""
"0000851564" "00018880" "30" "4110" "0" "4110" "0" "c.*2721C>T" "r.(=)" "p.(=)" "" ""
"0000860711" "00018880" "30" "4110" "0" "4110" "0" "c.*2721C>T" "r.(=)" "p.(=)" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 34
"{{screeningid}}" "{{variantid}}"
"0000295546" "0000652235"
"0000301390" "0000664320"
"0000303687" "0000667055"
"0000306266" "0000669954"
"0000309866" "0000684768"
"0000317366" "0000699890"
"0000365019" "0000765969"
"0000388586" "0000817286"
"0000388587" "0000817287"
"0000388588" "0000817288"
"0000388589" "0000817289"
"0000388590" "0000817290"
"0000388591" "0000817291"
"0000388592" "0000817293"
"0000388595" "0000817294"
"0000388602" "0000817300"
"0000388603" "0000817301"
"0000388604" "0000817302"
"0000388605" "0000817303"
"0000388606" "0000817304"
"0000388630" "0000817350"
"0000388631" "0000817351"
"0000388632" "0000817352"
"0000388633" "0000817353"
"0000388651" "0000817374"
"0000388653" "0000817375"
"0000388654" "0000817376"
"0000388655" "0000817377"
"0000388656" "0000817378"
"0000388657" "0000817379"
"0000388661" "0000817385"
"0000388663" "0000817387"
"0000388664" "0000817389"
"0000393028" "0000823614"