### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HFE) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "{{iNote}}" "HFE" "hemochromatosis" "6" "p21.3" "unknown" "NC_000006.11" "UD_138431407525" "" "" "" "1" "1" "4886" "3077" "613609" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "{{iNote}}" "{{chrom}}" "00000795" "HFE" "transcript variant X3" "001" "XR_241894.1" "" "" "" "" "" "1" "3144" "3144" "26087422" "26096438" "00001" "2013-11-12 21:41:30" "" "" "" "6" "00000796" "HFE" "transcript variant 1" "002" "NM_000410.3" "" "NP_000401.1" "" "" "" "-160" "2062" "1047" "26087509" "26095469" "00001" "2013-11-12 21:41:30" "" "" "" "6" "00000797" "HFE" "transcript variant 6" "003" "NM_139006.2" "" "NP_620575.1" "" "" "" "-160" "2020" "1005" "26087509" "26095469" "00001" "2013-11-12 21:41:30" "" "" "" "6" "00000798" "HFE" "transcript variant 4" "004" "NM_139004.2" "" "NP_620573.1" "" "" "" "-160" "1786" "771" "26087509" "26095469" "00001" "2013-11-12 21:41:30" "" "" "" "6" "00000799" "HFE" "transcript variant 3" "005" "NM_139003.2" "" "NP_620572.1" "" "" "" "-160" "1744" "729" "26087509" "26095469" "00001" "2013-11-12 21:41:30" "" "" "" "6" "00000800" "HFE" "transcript variant 9" "006" "NM_139009.2" "" "NP_620578.1" "" "" "" "-160" "1993" "978" "26087509" "26095469" "00001" "2013-11-12 21:41:30" "" "" "" "6" "00000801" "HFE" "transcript variant 7" "007" "NM_139007.2" "" "NP_620576.1" "" "" "" "-160" "1798" "783" "26087509" "26095469" "00001" "2013-11-12 21:41:30" "" "" "" "6" "00000802" "HFE" "transcript variant 8" "008" "NM_139008.2" "" "NP_620577.1" "" "" "" "-160" "1756" "741" "26087509" "26095469" "00001" "2013-11-12 21:41:30" "" "" "" "6" "00000803" "HFE" "transcript variant 10" "009" "NM_139010.2" "" "NP_620579.1" "" "" "" "-160" "1522" "507" "26087509" "26095469" "00001" "2013-11-12 21:41:30" "" "" "" "6" "00000804" "HFE" "transcript variant 11" "010" "NM_139011.2" "" "NP_620580.1" "" "" "" "-160" "1246" "231" "26087509" "26095469" "00001" "2013-11-12 21:41:30" "" "" "" "6" "00000805" "HFE" "transcript variant X1" "011" "XM_005249040.1" "" "XP_005249097.1" "" "" "" "-122" "3022" "1038" "26087547" "26096438" "00001" "2013-11-12 21:41:30" "" "" "" "6" "00000806" "HFE" "transcript variant X2" "012" "XR_241893.1" "" "" "" "" "" "1" "1147" "1147" "26087547" "26093413" "00001" "2013-11-12 21:41:30" "" "" "" "6" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## 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 = 9 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000001170" "0" "33" "6" "26091179" "26091179" "subst" "51" "0.110718" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-13 22:06:05" "HFE_000001" "g.26091179C>G" "" "{PMID:10673304:10673304};{PMID:11812557:11812557};{PMID:12429850:12429850};{PMID:19159930:19159930};{PMID:8896550:8896550};{PMID:9106528:9106528};{PMID:9326341:9326341};{PMID:14673107:14673107};{PMID:19554541:19554541};{PMID:11358905:11358905};{PMID:11874" "" "rs1799945" "subst" "0" ";" "3.510" "" "" "" "" "MSCV_0001170" "" "0000001171" "0" "99" "6" "26091185" "26091185" "subst" "51" "0.0110718" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-13 22:06:05" "HFE_000002" "g.26091185A>T" "" "{PMID:10194428:10194428};{PMID:11336458:11336458}" "" "rs1800730" "subst" "0" ";" "4.130" "" "" "" "" "MSCV_0001171" "" "0000001172" "0" "99" "6" "26091269" "26091269" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:57:56" "HFE_000003" "g.26091269G>C" "" "{PMID:10575540:10575540}" "" "rs28934597" "subst" "0" ";" "5.160" "" "" "" "" "MSCV_0001172" "" "0000001173" "0" "99" "6" "26091306" "26091306" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:57:57" "HFE_000004" "g.26091306T>C" "" "{PMID:10575540:10575540}" "" "rs28934596" "subst" "0" ";" "4.910" "" "" "" "" "MSCV_0001173" "" "0000001174" "0" "99" "6" "26091582" "26091582" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:57:57" "HFE_000005" "g.26091582A>C" "" "{PMID:10401000:10401000}" "" "rs28934595" "subst" "0" ";" "-6.610" "" "" "" "" "MSCV_0001174" "" "0000001175" "0" "11" "6" "26093141" "26093141" "subst" "35" "0.0475165" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:57:58" "HFE_000006" "g.26093141G>A" "" "{PMID:10401000:10401000};{PMID:10431233:10431233};{PMID:12915468:12915468};{PMID:15280838:15280838};{PMID:16879202:16879202};{PMID:18566337:18566337};{PMID:9024376:9024376};{PMID:9138148:9138148};{PMID:9211748:9211748};{PMID:10381492:10381492};{PMID:12241" "" "rs1800562" "subst" "0" ";" "5.350" "" "" "" "" "MSCV_0001175" "" "0000001176" "0" "99" "6" "26093144" "26093144" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:57:59" "HFE_000007" "g.26093144A>C" "" "{PMID:12737937:12737937};{PMID:15965644:15965644}" "" "rs111033563" "subst" "0" ";" "1.410" "" "" "" "" "MSCV_0001176" "" "0000001177" "0" "99" "6" "26093443" "26093443" "subst" "51" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 07:05:55" "HFE_000008" "g.26093443G>C" "" "{PMID:10401000:10401000}" "" "rs111033558" "subst" "0" ";" "-1.170" "" "" "" "" "MSCV_0001177" "" "0000001178" "0" "99" "6" "26093443" "26093443" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:58:00" "HFE_000009" "g.26093443G>T" "" "{PMID:10401000:10401000}" "" "rs111033558" "subst" "0" ";" "-1.170" "" "" "" "" "MSCV_0001178" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 108 "{{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/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000001170" "00000795" "55" "434" "0" "434" "0" "n.434C>G" "" "" "" "" "" "" "" "" "-" "0000001170" "00000796" "55" "187" "0" "187" "0" "c.187C>G" "2/7" "p.(His63Asp)" "r.(?)" "benign(0.171)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001170" "00000797" "55" "187" "0" "187" "0" "c.187C>G" "2/7" "p.(His63Asp)" "r.(?)" "benign(0.171)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001170" "00000798" "55" "187" "0" "187" "0" "c.187C>G" "2/7" "p.(His63Asp)" "r.(?)" "benign(0.171)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001170" "00000799" "55" "187" "0" "187" "0" "c.187C>G" "2/7" "p.(His63Asp)" "r.(?)" "benign(0.171)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001170" "00000800" "55" "118" "0" "118" "0" "c.118C>G" "2/6" "p.(His40Asp)" "r.(?)" "probably_damaging(0.955)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001170" "00000801" "55" "77" "-363" "77" "-363" "c.77-363C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001170" "00000802" "55" "77" "-363" "77" "-363" "c.77-363C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001170" "00000803" "55" "77" "-1734" "77" "-1734" "c.77-1734C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001170" "00000804" "55" "77" "-2168" "77" "-2168" "c.77-2168C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001170" "00000805" "55" "187" "0" "187" "0" "c.187C>G" "2/7" "p.(His63Asp)" "r.(?)" "benign(0.171)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001170" "00000806" "55" "309" "0" "309" "0" "n.309C>G" "2/3" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001171" "00000795" "55" "440" "0" "440" "0" "n.440A>T" "" "" "" "" "" "" "" "" "-" "0000001171" "00000796" "55" "193" "0" "193" "0" "c.193A>T" "2/7" "p.(Ser65Cys)" "r.(?)" "possibly_damaging(0.881)" "" "missense_variant" "" "" "deleterious(0)" "0000001171" "00000797" "55" "193" "0" "193" "0" "c.193A>T" "2/7" "p.(Ser65Cys)" "r.(?)" "possibly_damaging(0.881)" "" "missense_variant" "" "" "deleterious(0)" "0000001171" "00000798" "55" "193" "0" "193" "0" "c.193A>T" "2/7" "p.(Ser65Cys)" "r.(?)" "possibly_damaging(0.881)" "" "missense_variant" "" "" "deleterious(0)" "0000001171" "00000799" "55" "193" "0" "193" "0" "c.193A>T" "2/7" "p.(Ser65Cys)" "r.(?)" "possibly_damaging(0.881)" "" "missense_variant" "" "" "deleterious(0)" "0000001171" "00000800" "55" "124" "0" "124" "0" "c.124A>T" "2/6" "p.(Ser42Cys)" "r.(?)" "probably_damaging(0.947)" "" "missense_variant" "" "" "deleterious(0)" "0000001171" "00000801" "55" "77" "-357" "77" "-357" "c.77-357A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001171" "00000802" "55" "77" "-357" "77" "-357" "c.77-357A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001171" "00000803" "55" "77" "-1728" "77" "-1728" "c.77-1728A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001171" "00000804" "55" "77" "-2162" "77" "-2162" "c.77-2162A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001171" "00000805" "55" "193" "0" "193" "0" "c.193A>T" "2/7" "p.(Ser65Cys)" "r.(?)" "possibly_damaging(0.881)" "" "missense_variant" "" "" "deleterious(0)" "0000001171" "00000806" "55" "315" "0" "315" "0" "n.315A>T" "2/3" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001172" "00000795" "55" "524" "0" "524" "0" "n.524G>C" "" "" "" "" "" "" "" "" "-" "0000001172" "00000796" "55" "277" "0" "277" "0" "c.277G>C" "2/7" "p.(Gly93Arg)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "tolerated(0.19)" "0000001172" "00000797" "55" "277" "0" "277" "0" "c.277G>C" "2/7" "p.(Gly93Arg)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "tolerated(0.19)" "0000001172" "00000798" "55" "277" "0" "277" "0" "c.277G>C" "2/7" "p.(Gly93Arg)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "tolerated(0.19)" "0000001172" "00000799" "55" "277" "0" "277" "0" "c.277G>C" "2/7" "p.(Gly93Arg)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "tolerated(0.19)" "0000001172" "00000800" "55" "208" "0" "208" "0" "c.208G>C" "2/6" "p.(Gly70Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "tolerated(0.14)" "0000001172" "00000801" "55" "77" "-273" "77" "-273" "c.77-273G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001172" "00000802" "55" "77" "-273" "77" "-273" "c.77-273G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001172" "00000803" "55" "77" "-1644" "77" "-1644" "c.77-1644G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001172" "00000804" "55" "77" "-2078" "77" "-2078" "c.77-2078G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001172" "00000805" "55" "277" "0" "277" "0" "c.277G>C" "2/7" "p.(Gly93Arg)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "tolerated(0.19)" "0000001172" "00000806" "55" "399" "0" "399" "0" "n.399G>C" "2/3" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001173" "00000795" "55" "561" "0" "561" "0" "n.561T>C" "" "" "" "" "" "" "" "" "-" "0000001173" "00000796" "55" "314" "0" "314" "0" "c.314T>C" "2/7" "p.(Ile105Thr)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000001173" "00000797" "55" "314" "0" "314" "0" "c.314T>C" "2/7" "p.(Ile105Thr)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000001173" "00000798" "55" "314" "0" "314" "0" "c.314T>C" "2/7" "p.(Ile105Thr)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000001173" "00000799" "55" "314" "0" "314" "0" "c.314T>C" "2/7" "p.(Ile105Thr)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000001173" "00000800" "55" "245" "0" "245" "0" "c.245T>C" "2/6" "p.(Ile82Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001173" "00000801" "55" "77" "-236" "77" "-236" "c.77-236T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001173" "00000802" "55" "77" "-236" "77" "-236" "c.77-236T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001173" "00000803" "55" "77" "-1607" "77" "-1607" "c.77-1607T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001173" "00000804" "55" "77" "-2041" "77" "-2041" "c.77-2041T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001173" "00000805" "55" "314" "0" "314" "0" "c.314T>C" "2/7" "p.(Ile105Thr)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000001173" "00000806" "55" "436" "0" "436" "0" "n.436T>C" "2/3" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001174" "00000795" "55" "587" "250" "587" "250" "n.587+250A>C" "" "" "" "" "" "" "" "" "-" "0000001174" "00000796" "55" "381" "0" "381" "0" "c.381A>C" "3/7" "p.(Gln127His)" "r.(?)" "benign(0.004)" "" "missense_variant" "" "" "tolerated(0.07)" "0000001174" "00000797" "55" "381" "0" "381" "0" "c.381A>C" "3/7" "p.(Gln127His)" "r.(?)" "benign(0.004)" "" "missense_variant" "" "" "tolerated(0.07)" "0000001174" "00000798" "55" "340" "250" "340" "250" "c.340+250A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001174" "00000799" "55" "340" "250" "340" "250" "c.340+250A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001174" "00000800" "55" "312" "0" "312" "0" "c.312A>C" "3/6" "p.(Gln104His)" "r.(?)" "benign(0.001)" "" "missense_variant" "" "" "tolerated(0.1)" "0000001174" "00000801" "55" "117" "0" "117" "0" "c.117A>C" "2/5" "p.(Gln39His)" "r.(?)" "benign(0.001)" "" "missense_variant" "" "" "tolerated(0.31)" "0000001174" "00000802" "55" "117" "0" "117" "0" "c.117A>C" "2/5" "p.(Gln39His)" "r.(?)" "benign(0.001)" "" "missense_variant" "" "" "tolerated(0.31)" "0000001174" "00000803" "55" "77" "-1331" "77" "-1331" "c.77-1331A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001174" "00000804" "55" "77" "-1765" "77" "-1765" "c.77-1765A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001174" "00000805" "55" "381" "0" "381" "0" "c.381A>C" "3/7" "p.(Gln127His)" "r.(?)" "benign(0.004)" "" "missense_variant" "" "" "tolerated(0.07)" "0000001174" "00000806" "55" "503" "0" "503" "0" "n.503A>C" "" "" "" "" "" "" "" "" "-" "0000001175" "00000795" "55" "892" "0" "892" "0" "n.892G>A" "" "" "" "" "" "" "" "" "-" "0000001175" "00000796" "55" "845" "0" "845" "0" "c.845G>A" "4/6" "p.(Cys282Tyr)" "r.(?)" "probably_damaging(0.915)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001175" "00000797" "55" "803" "0" "803" "0" "c.803G>A" "4/6" "p.(Cys268Tyr)" "r.(?)" "possibly_damaging(0.862)" "" "missense_variant" "" "" "deleterious(0)" "0000001175" "00000798" "55" "569" "0" "569" "0" "c.569G>A" "3/5" "p.(Cys190Tyr)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001175" "00000799" "55" "527" "0" "527" "0" "c.527G>A" "3/5" "p.(Cys176Tyr)" "r.(?)" "benign(0.18)" "" "missense_variant" "" "" "deleterious(0)" "0000001175" "00000800" "55" "776" "0" "776" "0" "c.776G>A" "4/6" "p.(Cys259Tyr)" "r.(?)" "possibly_damaging(0.703)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001175" "00000801" "55" "581" "0" "581" "0" "c.581G>A" "3/5" "p.(Cys194Tyr)" "r.(?)" "possibly_damaging(0.895)" "" "missense_variant" "" "" "deleterious(0.05)" "0000001175" "00000802" "55" "539" "0" "539" "0" "c.539G>A" "3/5" "p.(Cys180Tyr)" "r.(?)" "probably_damaging(0.936)" "" "missense_variant" "" "" "deleterious(0)" "0000001175" "00000803" "55" "305" "0" "305" "0" "c.305G>A" "2/4" "p.(Cys102Tyr)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001175" "00000804" "55" "77" "-206" "77" "-206" "c.77-206G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001175" "00000805" "55" "836" "0" "836" "0" "c.836G>A" "5/7" "p.(Cys279Tyr)" "r.(?)" "probably_damaging(0.975)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001175" "00000806" "55" "967" "0" "967" "0" "n.967G>A" "" "" "" "" "" "" "" "" "-" "0000001176" "00000795" "55" "895" "0" "895" "0" "n.895A>C" "" "" "" "" "" "" "" "" "-" "0000001176" "00000796" "55" "848" "0" "848" "0" "c.848A>C" "4/6" "p.(Gln283Pro)" "r.(?)" "probably_damaging(0.922)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001176" "00000797" "55" "806" "0" "806" "0" "c.806A>C" "4/6" "p.(Gln269Pro)" "r.(?)" "possibly_damaging(0.872)" "" "missense_variant" "" "" "tolerated(0.1)" "0000001176" "00000798" "55" "572" "0" "572" "0" "c.572A>C" "3/5" "p.(Gln191Pro)" "r.(?)" "probably_damaging(0.947)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001176" "00000799" "55" "530" "0" "530" "0" "c.530A>C" "3/5" "p.(Gln177Pro)" "r.(?)" "benign(0.136)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001176" "00000800" "55" "779" "0" "779" "0" "c.779A>C" "4/6" "p.(Gln260Pro)" "r.(?)" "possibly_damaging(0.872)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001176" "00000801" "55" "584" "0" "584" "0" "c.584A>C" "3/5" "p.(Gln195Pro)" "r.(?)" "probably_damaging(0.94)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001176" "00000802" "55" "542" "0" "542" "0" "c.542A>C" "3/5" "p.(Gln181Pro)" "r.(?)" "probably_damaging(0.94)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001176" "00000803" "55" "308" "0" "308" "0" "c.308A>C" "2/4" "p.(Gln103Pro)" "r.(?)" "possibly_damaging(0.863)" "" "missense_variant" "" "" "deleterious(0)" "0000001176" "00000804" "55" "77" "-203" "77" "-203" "c.77-203A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001176" "00000805" "55" "839" "0" "839" "0" "c.839A>C" "5/7" "p.(Gln280Pro)" "r.(?)" "probably_damaging(0.922)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001176" "00000806" "55" "970" "0" "970" "0" "n.970A>C" "" "" "" "" "" "" "" "" "-" "0000001177" "00000795" "00" "1102" "0" "1102" "0" "n.1102G>C" "" "" "" "" "" "" "" "" "-" "0000001177" "00000796" "00" "989" "0" "989" "0" "c.989G>C" "5/6" "p.(Arg330Thr)" "r.(?)" "possibly_damaging(0.821)" "" "missense_variant" "" "" "tolerated(0.06)" "0000001177" "00000797" "00" "947" "0" "947" "0" "c.947G>C" "5/6" "p.(Arg316Thr)" "r.(?)" "possibly_damaging(0.772)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001177" "00000798" "00" "713" "0" "713" "0" "c.713G>C" "4/5" "p.(Arg238Thr)" "r.(?)" "probably_damaging(0.979)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001177" "00000799" "00" "671" "0" "671" "0" "c.671G>C" "4/5" "p.(Arg224Thr)" "r.(?)" "possibly_damaging(0.765)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001177" "00000800" "00" "920" "0" "920" "0" "c.920G>C" "5/6" "p.(Arg307Thr)" "r.(?)" "probably_damaging(0.913)" "" "missense_variant" "" "" "deleterious(0.05)" "0000001177" "00000801" "00" "725" "0" "725" "0" "c.725G>C" "4/5" "p.(Arg242Thr)" "r.(?)" "probably_damaging(0.944)" "" "missense_variant" "" "" "tolerated(0.07)" "0000001177" "00000802" "00" "683" "0" "683" "0" "c.683G>C" "4/5" "p.(Arg228Thr)" "r.(?)" "probably_damaging(0.944)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001177" "00000803" "00" "449" "0" "449" "0" "c.449G>C" "3/4" "p.(Arg150Thr)" "r.(?)" "probably_damaging(0.948)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001177" "00000804" "00" "173" "0" "173" "0" "c.173G>C" "2/3" "p.(Arg58Thr)" "r.(?)" "probably_damaging(0.974)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001177" "00000805" "00" "980" "0" "980" "0" "c.980G>C" "6/7" "p.(Arg327Thr)" "r.(?)" "possibly_damaging(0.821)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001177" "00000806" "00" "1147" "30" "1147" "30" "n.*30G>C" "" "" "" "" "" "" "" "" "-" "0000001178" "00000795" "55" "1102" "0" "1102" "0" "n.1102G>T" "" "" "" "" "" "" "" "" "-" "0000001178" "00000796" "55" "989" "0" "989" "0" "c.989G>T" "5/6" "p.(Arg330Met)" "r.(?)" "probably_damaging(0.95)" "" "missense_variant" "" "" "tolerated(0.11)" "0000001178" "00000797" "55" "947" "0" "947" "0" "c.947G>T" "5/6" "p.(Arg316Met)" "r.(?)" "probably_damaging(0.959)" "" "missense_variant" "" "" "tolerated(0.11)" "0000001178" "00000798" "55" "713" "0" "713" "0" "c.713G>T" "4/5" "p.(Arg238Met)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0.05)" "0000001178" "00000799" "55" "671" "0" "671" "0" "c.671G>T" "4/5" "p.(Arg224Met)" "r.(?)" "probably_damaging(0.919)" "" "missense_variant" "" "" "tolerated(0.08)" "0000001178" "00000800" "55" "920" "0" "920" "0" "c.920G>T" "5/6" "p.(Arg307Met)" "r.(?)" "probably_damaging(0.978)" "" "missense_variant" "" "" "tolerated(0.08)" "0000001178" "00000801" "55" "725" "0" "725" "0" "c.725G>T" "4/5" "p.(Arg242Met)" "r.(?)" "probably_damaging(0.986)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001178" "00000802" "55" "683" "0" "683" "0" "c.683G>T" "4/5" "p.(Arg228Met)" "r.(?)" "probably_damaging(0.986)" "" "missense_variant" "" "" "tolerated(0.05)" "0000001178" "00000803" "55" "449" "0" "449" "0" "c.449G>T" "3/4" "p.(Arg150Met)" "r.(?)" "probably_damaging(0.987)" "" "missense_variant" "" "" "tolerated(0.05)" "0000001178" "00000804" "55" "173" "0" "173" "0" "c.173G>T" "2/3" "p.(Arg58Met)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000001178" "00000805" "55" "980" "0" "980" "0" "c.980G>T" "6/7" "p.(Arg327Met)" "r.(?)" "probably_damaging(0.95)" "" "missense_variant" "" "" "tolerated(0.12)" "0000001178" "00000806" "55" "1147" "30" "1147" "30" "n.*30G>T" "" "" "" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0