### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TP73) # 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}}" "TP73" "tumor protein p73" "1" "p36.3" "unknown" "NG_017035.2" "UD_132118740999" "" "https://www.LOVD.nl/TP73" "" "1" "12003" "7161" "601990" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TP73_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-11-14 00:00:00" "00006" "2021-06-12 19:33:38" "00000" "2026-01-20 18:57:21" ## 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}}" "00001743" "TP73" "transcript variant 1" "001" "NM_005427.3" "" "NP_005418.1" "" "" "" "-110" "5033" "1911" "3569129" "3652765" "00000" "2012-11-14 17:22:40" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00375592" "" "" "" "2" "" "00006" "{PMID:Wallmeier 2021:34077761}" "3-generation family, 2 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "KI-645PatII1" "00375593" "" "" "00375592" "1" "" "00006" "{PMID:Wallmeier 2021:34077761}" "cousin" "M" "" "" "" "0" "" "" "" "OP-3039PatII1" "00375594" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2021:34077761}" "5-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "OP-1693PatII1" "00375595" "" "" "" "2" "" "00006" "{PMID:Wallmeier 2021:34077761}" "4-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "18DG0963" "00375596" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2021:34077761}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "19DG0120" "00375597" "" "" "00375595" "1" "" "00006" "{PMID:Wallmeier 2021:34077761}" "cousin" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "19DG2776" "00375598" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2021:34077761}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "20DG1336" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00375592" "00198" "00375593" "00198" "00375594" "00198" "00375595" "00198" "00375596" "00198" "00375597" "00198" "00375598" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157 ## Count = 8 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000270806" "00198" "00375592" "00006" "Familial, autosomal recessive" "" "respiratory distress syndrome, recurrent respiratory infections, lissencephaly, no seizures, corpus callosum hypoplasia/corpus callosum aplasia" "" "" "" "" "" "" "" "" "" "ciliary clearance disorder, lissencephaly" "" "0000270807" "00198" "00375593" "00006" "Familial, autosomal recessive" "" "respiratory distress syndrome, recurrent respiratory infections, lissencephaly, seizures, corpus callosum hypoplasia/corpus callosum aplasia" "" "" "" "" "" "" "" "" "" "ciliary clearance disorder, lissencephaly" "" "0000270808" "00198" "00375594" "00006" "Familial, autosomal recessive" "" "respiratory distress syndrome, recurrent respiratory infections, lissencephaly, no seizures, corpus callosum hypoplasia/corpus callosum aplasia" "" "" "" "" "" "" "" "" "" "ciliary clearance disorder, lissencephaly" "" "0000270809" "00198" "00375595" "00006" "Familial, autosomal recessive" "" "no respiratory distress syndrome, recurrent respiratory infections, lissencephaly, no seizures" "" "" "" "" "" "" "" "" "" "ciliary clearance disorder, lissencephaly" "" "0000270810" "00198" "00375596" "00006" "Familial, autosomal recessive" "" "lissencephaly, seizures, corpus callosum hypoplasia/corpus callosum aplasia" "" "" "" "" "" "" "" "" "" "ciliary clearance disorder, lissencephaly" "" "0000270811" "00198" "00375597" "00006" "Familial, autosomal recessive" "" "respiratory distress syndrome, recurrent respiratory infections, lissencephaly, no seizures, no corpus callosum hypoplasia/aplasia" "" "" "" "" "" "" "" "" "" "ciliary clearance disorder, lissencephaly" "" "0000270812" "00198" "00375598" "00006" "Familial, autosomal recessive" "" "respiratory distress syndrome, recurrent respiratory infections, lissencephaly, no seizures, no corpus callosum hypoplasia/aplasia" "" "" "" "" "" "" "" "" "" "ciliary clearance disorder, lissencephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000376789" "00375592" "1" "00006" "00006" "2021-06-12 22:33:34" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000376790" "00375593" "1" "00006" "00006" "2021-06-12 22:33:34" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000376791" "00375594" "1" "00006" "00006" "2021-06-12 22:33:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000376792" "00375595" "1" "00006" "00006" "2021-06-12 22:33:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000376793" "00375596" "1" "00006" "00006" "2021-06-12 22:33:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000376794" "00375597" "1" "00006" "00006" "2021-06-12 22:33:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000376795" "00375598" "1" "00006" "00006" "2021-06-12 22:33:34" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 25 "{{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}}" "0000002238" "3" "50" "1" "3580274" "3580274" "dup" "0" "00037" "TP73_000001" "g.3580274dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.3663710dup" "" "VUS" "" "0000320478" "0" "50" "1" "3645961" "3645961" "subst" "0" "01804" "TP73_000002" "g.3645961C>T" "" "" "" "TP73(NM_005427.4):c.1145C>T (p.(Pro382Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3729397C>T" "" "VUS" "" "0000507310" "0" "30" "1" "3643695" "3643695" "subst" "8.1692E-6" "01804" "TP73_000003" "g.3643695C>G" "" "" "" "TP73(NM_001126240.2):c.602C>G (p.(Thr201Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3727131C>G" "" "likely benign" "" "0000788842" "3" "90" "1" "3646013" "3646013" "subst" "0" "00006" "TP73_000008" "g.3646013G>A" "" "{PMID:Wallmeier 2021:34077761}" "" "" "" "Germline" "" "" "0" "" "" "g.3729449G>A" "" "pathogenic (recessive)" "" "0000788843" "3" "90" "1" "3646013" "3646013" "subst" "0" "00006" "TP73_000008" "g.3646013G>A" "" "{PMID:Wallmeier 2021:34077761}" "" "" "" "Germline" "" "" "0" "" "" "g.3729449G>A" "" "pathogenic (recessive)" "" "0000788844" "3" "90" "1" "3643911" "3655901" "delins" "0" "00006" "TP73_000005" "g.3643911_3655901delinsACCCAAAG" "" "{PMID:Wallmeier 2021:34077761}" "" "del ex8-14" "13.17 kb deletion" "Germline" "" "" "0" "" "" "g.3727347_3739337delinsACCCAAAG" "" "pathogenic (recessive)" "" "0000788845" "3" "90" "1" "3644701" "3644701" "" "0" "00006" "TP73_000006" "g.3644701C>T" "" "{PMID:Wallmeier 2021:34077761}" "" "" "" "Germline" "" "" "0" "" "" "g.3728137C>T" "" "pathogenic (recessive)" "" "0000788846" "3" "90" "1" "3647604" "3647604" "del" "0" "00006" "TP73_000009" "g.3647604del" "" "{PMID:Wallmeier 2021:34077761}" "" "1459del" "" "Germline" "" "" "0" "" "" "g.3731040del" "" "pathogenic (recessive)" "" "0000788847" "3" "90" "1" "3644701" "3644701" "subst" "0" "00006" "TP73_000006" "g.3644701C>T" "" "{PMID:Wallmeier 2021:34077761}" "" "" "" "Germline" "" "" "0" "" "" "g.3728137C>T" "" "pathogenic (recessive)" "" "0000788848" "3" "90" "1" "3638768" "3638768" "subst" "0" "00006" "TP73_000007" "g.3638768G>T" "" "{PMID:Wallmeier 2021:34077761}" "" "" "" "Germline" "" "" "0" "" "" "g.3722204G>T" "" "pathogenic (recessive)" "" "0000973907" "0" "50" "1" "3599649" "3599649" "subst" "4.06484E-6" "01804" "TP73_000010" "g.3599649C>T" "" "" "" "TP73(NM_005427.4):c.91C>T (p.(Leu31Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973908" "0" "50" "1" "3599694" "3599694" "subst" "6.50142E-5" "01804" "TP73_000011" "g.3599694G>A" "" "" "" "TP73(NM_005427.3):c.136G>A (p.(Asp46Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973915" "0" "30" "1" "3639911" "3639911" "subst" "0" "01804" "TP73_000012" "g.3639911C>T" "" "" "" "TP73(NM_005427.4):c.617-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973916" "0" "50" "1" "3644293" "3644293" "subst" "0" "01804" "TP73_000013" "g.3644293T>C" "" "" "" "TP73(NM_005427.4):c.944T>C (p.(Leu315Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973917" "0" "50" "1" "3647496" "3647496" "subst" "0" "01804" "TP73_000014" "g.3647496G>A" "" "" "" "TP73(NM_005427.4):c.1351G>A (p.(Gly451Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973918" "0" "50" "1" "3647519" "3647519" "subst" "2.97026E-5" "01804" "TP73_000015" "g.3647519C>T" "" "" "" "TP73(NM_001126242.3):c.1078C>T (p.(Arg360Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973919" "0" "50" "1" "3649545" "3649545" "subst" "5.42315E-5" "01804" "TP73_000016" "g.3649545G>A" "" "" "" "TP73(NM_005427.4):c.1813G>A (p.(Gly605Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973920" "0" "50" "1" "3649608" "3649608" "subst" "0.00073018" "01804" "TP73_000017" "g.3649608A>G" "" "" "" "TP73(NM_005427.4):c.1876A>G (p.(Ile626Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973921" "0" "50" "1" "3649632" "3649632" "subst" "6.81508E-5" "01804" "TP73_000018" "g.3649632G>A" "" "" "" "TP73(NM_005427.4):c.1900G>A (p.(Glu634Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973922" "0" "50" "1" "3649636" "3649636" "subst" "0" "01804" "TP73_000019" "g.3649636T>G" "" "" "" "TP73(NM_005427.4):c.1904T>G (p.(Ile635Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032000" "0" "30" "1" "3607292" "3607292" "subst" "0" "01804" "TP73_000020" "g.3607292C>T" "" "" "" "TP73(NM_001126240.3):c.-178C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032002" "0" "50" "1" "3647602" "3647602" "subst" "8.32959E-6" "01804" "TP73_000021" "g.3647602C>G" "" "" "" "TP73(NM_005427.4):c.1457C>G (p.(Pro486Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032003" "0" "50" "1" "3647610" "3647610" "subst" "2.09524E-5" "01804" "TP73_000022" "g.3647610G>A" "" "" "" "TP73(NM_005427.4):c.1465G>A (p.(Ala489Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049876" "0" "50" "1" "3644212" "3644212" "subst" "2.74859E-5" "01804" "TP73_000023" "g.3644212G>A" "" "" "" "TP73(NM_005427.4):c.863G>A (p.(Arg288Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062939" "0" "50" "1" "3649446" "3649446" "subst" "2.98869E-5" "01804" "TP73_000024" "g.3649446G>A" "" "" "" "TP73(NM_005427.4):c.1714G>A (p.(Gly572Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TP73 ## Count = 25 "{{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}}" "0000002238" "00001743" "50" "-34" "11069" "-34" "11069" "c.-34+11069dup" "r.(=)" "p.(=)" "" "0000320478" "00001743" "50" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Pro382Leu)" "" "0000507310" "00001743" "30" "749" "0" "749" "0" "c.749C>G" "r.(?)" "p.(Thr250Ser)" "" "0000788842" "00001743" "90" "1196" "1" "1196" "1" "c.1196+1G>A" "r.1196_1197ins[a;1196+2_1197-1]" "p.Ser400fs" "10i" "0000788843" "00001743" "90" "1196" "1" "1196" "1" "c.1196+1G>A" "r.1196_1197ins[a;1196+2_1197-1]" "p.Ser400fs" "10i" "0000788844" "00001743" "90" "0" "0" "0" "0" "c.842+123_*3122{0}insACCCAAAG" "r.?" "p.?" "7i_14_" "0000788845" "00001743" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Gln332Ter)" "" "0000788846" "00001743" "90" "1459" "0" "1459" "0" "c.1459del" "r.(?)" "p.(Tyr487ThrfsTer11)" "" "0000788847" "00001743" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Gln332Ter)" "" "0000788848" "00001743" "90" "613" "0" "613" "0" "c.613G>T" "r.(?)" "p.(Glu205Ter)" "" "0000973907" "00001743" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Leu31Phe)" "" "0000973908" "00001743" "50" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Asp46Asn)" "" "0000973915" "00001743" "30" "617" "-7" "617" "-7" "c.617-7C>T" "r.(=)" "p.(=)" "" "0000973916" "00001743" "50" "944" "0" "944" "0" "c.944T>C" "r.(?)" "p.(Leu315Pro)" "" "0000973917" "00001743" "50" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Gly451Arg)" "" "0000973918" "00001743" "50" "1374" "0" "1374" "0" "c.1374C>T" "r.(?)" "p.(=)" "" "0000973919" "00001743" "50" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Gly605Ser)" "" "0000973920" "00001743" "50" "1876" "0" "1876" "0" "c.1876A>G" "r.(?)" "p.(Ile626Val)" "" "0000973921" "00001743" "50" "1900" "0" "1900" "0" "c.1900G>A" "r.(?)" "p.(Glu634Lys)" "" "0000973922" "00001743" "50" "1904" "0" "1904" "0" "c.1904T>G" "r.(?)" "p.(Ile635Ser)" "" "0001032000" "00001743" "30" "186" "7548" "186" "7548" "c.186+7548C>T" "r.(=)" "p.(=)" "" "0001032002" "00001743" "50" "1457" "0" "1457" "0" "c.1457C>G" "r.(?)" "p.(Pro486Arg)" "" "0001032003" "00001743" "50" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Ala489Thr)" "" "0001049876" "00001743" "50" "863" "0" "863" "0" "c.863G>A" "r.(?)" "p.(Arg288Gln)" "" "0001062939" "00001743" "50" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Gly572Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002238" "0000376789" "0000788842" "0000376790" "0000788843" "0000376791" "0000788844" "0000376792" "0000788845" "0000376793" "0000788846" "0000376794" "0000788847" "0000376795" "0000788848"