### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MFN2) # 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}}" "MFN2" "mitofusin 2" "1" "p36.22" "unknown" "NC_000001.10" "UD_132118305949" "" "" "" "1" "1" "16877" "9927" "608507" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "http://mseqdr.lumc.edu/LOVD3/refseq/MFN2_codingDNA.html" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-06 14:40:04" "" "" "" "" "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 = 2 "{{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}}" "00000004" "MFN2" "transcript variant 1" "001" "NM_014874.3" "" "NP_055689.1" "" "" "" "-453" "4224" "2274" "12040238" "12073572" "00001" "2013-11-06 14:40:04" "" "" "" "1" "00000005" "MFN2" "transcript variant 2" "002" "NM_001127660.1" "" "NP_001121132.1" "" "" "" "-308" "4224" "2274" "12040238" "12073572" "00001" "2013-11-06 14:40:04" "" "" "" "1" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00485" "HSMN6" "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI; HSMN6" "601152" "" "" "" "00001" "2014-08-15 13:15:55" "" "" "" "00488" "CMT2A2" "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2" "609260" "" "" "" "00001" "2014-10-27 16:12:45" "" "" "" "00494" "MSL" "LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL" "151800" "" "" "" "00001" "2015-06-22 17:31:04" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MFN2" "00485" "MFN2" "00488" "MFN2" "00494" ## 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 = 40 "{{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}}" "0000000009" "0" "99" "1" "12052716" "12052716" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-11-09 17:21:44" "MFN2_000005" "g.12052716C>T" "" "{PMID:16835246:16835246};{PMID:16437557:16437557};{PMID:15064763:15064763}" "" "rs119103263" "subst" "0" ";" "3.570" "" "" "" "" "MSCV_0010009" "" "0000000010" "0" "99" "1" "12052746" "12052746" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 03:51:31" "MFN2_000003" "g.12052746C>T" "" "{PMID:18425620:18425620};{PMID:18946002:18946002};{PMID:25025039:25025039};{PMID:21840889:21840889};{PMID:21531138:21531138}" "" "rs119103268" "subst" "0" ";" "2.200" "" "" "" "" "MSCV_0000010" "" "0000000011" "0" "99" "1" "12058844" "12058844" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:45" "MFN2_000004" "g.12058844C>T" "" "{PMID:16437557:16437557}" "" "rs119103266" "subst" "0" ";" "5.200" "" "" "" "" "MSCV_0000011" "" "0000000012" "0" "99" "1" "12061468" "12061468" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 03:51:31" "MFN2_000001" "g.12061468A>G" "" "{PMID:16437557:16437557}" "" "rs119103264" "subst" "0" ";" "5.230" "" "" "" "" "MSCV_0000012" "" "0000000013" "0" "99" "1" "12062090" "12062090" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-11-10 10:03:09" "MFN2_000002" "g.12062090C>T" "" "{PMID:16437557:16437557};{PMID:16835246:16835246}" "" "rs119103265" "subst" "0" ";" "4.700" "" "" "" "" "MSCV_0000013" "" "0000015238" "0" "99" "1" "12052641" "12052641" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:00:01" "MFN2_000037" "g.12052641G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015238" "" "0000015239" "0" "99" "1" "12052663" "12052663" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-19 14:16:36" "MFN2_000038" "g.12052663T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015239" "" "0000015240" "0" "99" "1" "12052716" "12052716" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-17 05:32:47" "MFN2_000005" "g.12052716C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000009" "" "0000015241" "0" "99" "1" "12052717" "12052717" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-07-02 08:43:10" "MFN2_000039" "g.12052717G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015241" "" "0000015242" "0" "99" "1" "12052746" "12052746" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:00:26" "MFN2_000003" "g.12052746C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000010" "" "0000015243" "0" "77" "1" "12056337" "12056337" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 03:51:31" "MFN2_000040" "g.12056337C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015243" "" "0000015244" "0" "77" "1" "12057358" "12057358" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-19 06:29:34" "MFN2_000041" "g.12057358T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015244" "" "0000015245" "0" "99" "1" "12057372" "12057372" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:30" "MFN2_000025" "g.12057372C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015245" "" "0000015246" "0" "99" "1" "12057373" "12057373" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:33" "MFN2_000026" "g.12057373A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015246" "" "0000015247" "0" "77" "1" "12057405" "12057405" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:42" "MFN2_000027" "g.12057405G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015247" "" "0000015248" "0" "99" "1" "12058844" "12058844" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:46" "MFN2_000004" "g.12058844C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000011" "" "0000015249" "0" "99" "1" "12058934" "12058934" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:49" "MFN2_000028" "g.12058934C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015249" "" "0000015250" "0" "77" "1" "12059056" "12059056" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 03:51:31" "MFN2_000029" "g.12059056C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015250" "" "0000015251" "0" "99" "1" "12059066" "12059066" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 03:51:31" "MFN2_000030" "g.12059066G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015251" "" "0000015252" "0" "99" "1" "12059066" "12059066" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:57" "MFN2_000031" "g.12059066G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015252" "" "0000015253" "0" "99" "1" "12059082" "12059082" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-15 04:59:42" "MFN2_000032" "g.12059082C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015253" "" "0000015254" "0" "99" "1" "12059087" "12059087" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:01" "MFN2_000033" "g.12059087C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015254" "" "0000015255" "0" "99" "1" "12059111" "12059111" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 03:51:31" "MFN2_000034" "g.12059111C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015255" "" "0000015256" "0" "99" "1" "12061468" "12061468" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-27 15:50:52" "MFN2_000001" "g.12061468A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000012" "" "0000015257" "0" "99" "1" "12061480" "12061480" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 03:51:31" "MFN2_000035" "g.12061480G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015257" "" "0000015258" "0" "77" "1" "12062071" "12062071" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:11" "MFN2_000036" "g.12062071G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015258" "" "0000015259" "0" "99" "1" "12062085" "12062085" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:19" "MFN2_000012" "g.12062085C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015259" "" "0000015260" "0" "99" "1" "12062090" "12062090" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-05 06:08:38" "MFN2_000002" "g.12062090C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000013" "" "0000015261" "0" "77" "1" "12062126" "12062126" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-06 10:29:47" "MFN2_000013" "g.12062126A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015261" "" "0000015262" "0" "00" "1" "12062143" "12062145" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-01 17:49:23" "MFN2_000014" "g.12062143_12062145del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015262" "" "0000015263" "0" "99" "1" "12062148" "12062148" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-17 22:20:01" "MFN2_000015" "g.12062148C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015263" "" "0000015264" "0" "99" "1" "12064672" "12064672" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:29" "MFN2_000016" "g.12064672T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015264" "" "0000015265" "0" "77" "1" "12064892" "12064892" "subst" "35" "0.00192219" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:31" "MFN2_000017" "g.12064892G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015265" "" "0000015266" "0" "77" "1" "12064915" "12064915" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:33" "MFN2_000018" "g.12064915C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015266" "" "0000015267" "0" "77" "1" "12065827" "12065827" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 03:51:31" "MFN2_000019" "g.12065827C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015267" "" "0000015268" "0" "77" "1" "12066715" "12066716" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 03:51:31" "MFN2_000020" "g.12066715_12066716insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015268" "" "0000015269" "0" "77" "1" "12067183" "12067183" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:40" "MFN2_000021" "g.12067183G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015269" "" "0000015270" "0" "99" "1" "12069698" "12069698" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 01:27:41" "MFN2_000022" "g.12069698C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015270" "" "0000015271" "0" "99" "1" "12071567" "12071567" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-11 01:11:39" "MFN2_000023" "g.12071567G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015271" "" "0000015272" "0" "99" "1" "12071604" "12071604" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 03:51:31" "MFN2_000024" "g.12071604C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015272" "" ## 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 = 80 "{{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}}" "0000000009" "00000004" "55" "280" "0" "280" "0" "c.280C>T" "4/4" "p.(Arg94Trp)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000000009" "00000005" "55" "280" "0" "280" "0" "c.280C>T" "4/4" "p.(Arg94Trp)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000000010" "00000004" "55" "310" "0" "310" "0" "c.310C>T" "3/18" "p.(Arg104Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000000010" "00000005" "55" "310" "0" "310" "0" "c.310C>T" "3/18" "p.(Arg104Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000000011" "00000004" "55" "617" "0" "617" "0" "c.617C>T" "6/18" "p.(Thr206Ile)" "r.(?)" "benign(0.302)" "" "missense_variant" "" "" "deleterious(0)" "0000000011" "00000005" "55" "617" "0" "617" "0" "c.617C>T" "6/18" "p.(Thr206Ile)" "r.(?)" "benign(0.302)" "" "missense_variant" "" "" "deleterious(0)" "0000000012" "00000004" "55" "827" "0" "827" "0" "c.827A>G" "8/18" "p.(Gln276Arg)" "r.(?)" "benign(0.079)" "" "missense_variant" "" "" "deleterious(0)" "0000000012" "00000005" "55" "827" "0" "827" "0" "c.827A>G" "8/18" "p.(Gln276Arg)" "r.(?)" "benign(0.079)" "" "missense_variant" "" "" "deleterious(0)" "0000000013" "00000004" "55" "1090" "0" "1090" "0" "c.1090C>T" "10/18" "p.(Arg364Trp)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000000013" "00000005" "55" "1090" "0" "1090" "0" "c.1090C>T" "10/18" "p.(Arg364Trp)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000015238" "00000004" "00" "205" "0" "205" "0" "c.205G>T" "" "p.(Val69Phe)" "r.(?)" "" "" "" "" "" "-" "0000015238" "00000005" "00" "205" "0" "205" "0" "c.205G>T" "" "p.(Val69Phe)" "r.(?)" "" "" "" "" "" "-" "0000015239" "00000004" "00" "227" "0" "227" "0" "c.227T>C" "" "p.(Leu76Pro)" "r.(?)" "" "" "" "" "" "-" "0000015239" "00000005" "00" "227" "0" "227" "0" "c.227T>C" "" "p.(Leu76Pro)" "r.(?)" "" "" "" "" "" "-" "0000015240" "00000004" "00" "280" "0" "280" "0" "c.280C>T" "" "p.(Arg94Trp)" "r.(?)" "" "" "" "" "" "-" "0000015240" "00000005" "00" "280" "0" "280" "0" "c.280C>T" "" "p.(Arg94Trp)" "r.(?)" "" "" "" "" "" "-" "0000015241" "00000004" "00" "281" "0" "281" "0" "c.281G>A" "" "p.(Arg94Gln)" "r.(?)" "" "" "" "" "" "-" "0000015241" "00000005" "00" "281" "0" "281" "0" "c.281G>A" "" "p.(Arg94Gln)" "r.(?)" "" "" "" "" "" "-" "0000015242" "00000004" "00" "310" "0" "310" "0" "c.310C>T" "" "p.(Arg104Trp)" "r.(?)" "" "" "" "" "" "-" "0000015242" "00000005" "00" "310" "0" "310" "0" "c.310C>T" "" "p.(Arg104Trp)" "r.(?)" "" "" "" "" "" "-" "0000015243" "00000004" "00" "436" "0" "436" "0" "c.436C>T" "" "p.(Leu146Phe)" "r.(?)" "" "" "" "" "" "-" "0000015243" "00000005" "00" "436" "0" "436" "0" "c.436C>T" "" "p.(Leu146Phe)" "r.(?)" "" "" "" "" "" "-" "0000015244" "00000004" "00" "479" "0" "479" "0" "c.479T>G" "" "p.(Val160Gly)" "r.(?)" "" "" "" "" "" "-" "0000015244" "00000005" "00" "479" "0" "479" "0" "c.479T>G" "" "p.(Val160Gly)" "r.(?)" "" "" "" "" "" "-" "0000015245" "00000004" "00" "493" "0" "493" "0" "c.493C>G" "" "p.(His165Asp)" "r.(?)" "" "" "" "" "" "-" "0000015245" "00000005" "00" "493" "0" "493" "0" "c.493C>G" "" "p.(His165Asp)" "r.(?)" "" "" "" "" "" "-" "0000015246" "00000004" "00" "494" "0" "494" "0" "c.494A>G" "" "p.(His165Arg)" "r.(?)" "" "" "" "" "" "-" "0000015246" "00000005" "00" "494" "0" "494" "0" "c.494A>G" "" "p.(His165Arg)" "r.(?)" "" "" "" "" "" "-" "0000015247" "00000004" "00" "526" "0" "526" "0" "c.526G>A" "" "p.(Gly176Ser)" "r.(?)" "" "" "" "" "" "-" "0000015247" "00000005" "00" "526" "0" "526" "0" "c.526G>A" "" "p.(Gly176Ser)" "r.(?)" "" "" "" "" "" "-" "0000015248" "00000004" "00" "617" "0" "617" "0" "c.617C>T" "" "p.(Thr206Ile)" "r.(?)" "" "" "" "" "" "-" "0000015248" "00000005" "00" "617" "0" "617" "0" "c.617C>T" "" "p.(Thr206Ile)" "r.(?)" "" "" "" "" "" "-" "0000015249" "00000004" "00" "707" "0" "707" "0" "c.707C>T" "" "p.(Thr236Met)" "r.(?)" "" "" "" "" "" "-" "0000015249" "00000005" "00" "707" "0" "707" "0" "c.707C>T" "" "p.(Thr236Met)" "r.(?)" "" "" "" "" "" "-" "0000015250" "00000004" "00" "720" "0" "720" "0" "c.720C>G" "" "p.(Phe240Leu)" "r.(?)" "" "" "" "" "" "-" "0000015250" "00000005" "00" "720" "0" "720" "0" "c.720C>G" "" "p.(Phe240Leu)" "r.(?)" "" "" "" "" "" "-" "0000015251" "00000004" "00" "730" "0" "730" "0" "c.730G>T" "" "p.(Val244Leu)" "r.(?)" "" "" "" "" "" "-" "0000015251" "00000005" "00" "730" "0" "730" "0" "c.730G>T" "" "p.(Val244Leu)" "r.(?)" "" "" "" "" "" "-" "0000015252" "00000004" "00" "730" "0" "730" "0" "c.730G>A" "" "p.(Val244Met)" "r.(?)" "" "" "" "" "" "-" "0000015252" "00000005" "00" "730" "0" "730" "0" "c.730G>A" "" "p.(Val244Met)" "r.(?)" "" "" "" "" "" "-" "0000015253" "00000004" "00" "746" "0" "746" "0" "c.746C>T" "" "p.(Ser249Phe)" "r.(?)" "" "" "" "" "" "-" "0000015253" "00000005" "00" "746" "0" "746" "0" "c.746C>T" "" "p.(Ser249Phe)" "r.(?)" "" "" "" "" "" "-" "0000015254" "00000004" "00" "751" "0" "751" "0" "c.751C>G" "" "p.(Pro251Ala)" "r.(?)" "" "" "" "" "" "-" "0000015254" "00000005" "00" "751" "0" "751" "0" "c.751C>G" "" "p.(Pro251Ala)" "r.(?)" "" "" "" "" "" "-" "0000015255" "00000004" "00" "775" "0" "775" "0" "c.775C>T" "" "p.(Arg259Cys)" "r.(?)" "" "" "" "" "" "-" "0000015255" "00000005" "00" "775" "0" "775" "0" "c.775C>T" "" "p.(Arg259Cys)" "r.(?)" "" "" "" "" "" "-" "0000015256" "00000004" "00" "827" "0" "827" "0" "c.827A>G" "" "p.(Gln276Arg)" "r.(?)" "" "" "" "" "" "-" "0000015256" "00000005" "00" "827" "0" "827" "0" "c.827A>G" "" "p.(Gln276Arg)" "r.(?)" "" "" "" "" "" "-" "0000015257" "00000004" "00" "839" "0" "839" "0" "c.839G>A" "" "p.(Arg280His)" "r.(?)" "" "" "" "" "" "-" "0000015257" "00000005" "00" "839" "0" "839" "0" "c.839G>A" "" "p.(Arg280His)" "r.(?)" "" "" "" "" "" "-" "0000015258" "00000004" "00" "1071" "0" "1071" "0" "c.1071G>C" "" "p.(Lys357Asn)" "r.(?)" "" "" "" "" "" "-" "0000015258" "00000005" "00" "1071" "0" "1071" "0" "c.1071G>C" "" "p.(Lys357Asn)" "r.(?)" "" "" "" "" "" "-" "0000015259" "00000004" "00" "1085" "0" "1085" "0" "c.1085C>T" "" "p.(Thr362Met)" "r.(?)" "" "" "" "" "" "-" "0000015259" "00000005" "00" "1085" "0" "1085" "0" "c.1085C>T" "" "p.(Thr362Met)" "r.(?)" "" "" "" "" "" "-" "0000015260" "00000004" "00" "1090" "0" "1090" "0" "c.1090C>T" "" "p.(Arg364Trp)" "r.(?)" "" "" "" "" "" "-" "0000015260" "00000005" "00" "1090" "0" "1090" "0" "c.1090C>T" "" "p.(Arg364Trp)" "r.(?)" "" "" "" "" "" "-" "0000015261" "00000004" "00" "1126" "0" "1126" "0" "c.1126A>G" "" "p.(Met376Val)" "r.(?)" "" "" "" "" "" "-" "0000015261" "00000005" "00" "1126" "0" "1126" "0" "c.1126A>G" "" "p.(Met376Val)" "r.(?)" "" "" "" "" "" "-" "0000015262" "00000004" "00" "1143" "0" "1145" "0" "c.1143_1145del" "" "p.(Ala383del)" "r.(?)" "" "" "" "" "" "-" "0000015262" "00000005" "00" "1143" "0" "1145" "0" "c.1143_1145del" "" "p.(Ala383del)" "r.(?)" "" "" "" "" "" "-" "0000015263" "00000004" "00" "1148" "0" "1148" "0" "c.1148C>T" "" "p.(Ala383Val)" "r.(?)" "" "" "" "" "" "-" "0000015263" "00000005" "00" "1148" "0" "1148" "0" "c.1148C>T" "" "p.(Ala383Val)" "r.(?)" "" "" "" "" "" "-" "0000015264" "00000004" "00" "1392" "2" "1392" "2" "c.1392+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015264" "00000005" "00" "1392" "2" "1392" "2" "c.1392+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015265" "00000004" "00" "1403" "0" "1403" "0" "c.1403G>A" "" "p.(Arg468His)" "r.(?)" "" "" "" "" "" "-" "0000015265" "00000005" "00" "1403" "0" "1403" "0" "c.1403G>A" "" "p.(Arg468His)" "r.(?)" "" "" "" "" "" "-" "0000015266" "00000004" "00" "1426" "0" "1426" "0" "c.1426C>G" "" "p.(Arg476Gly)" "r.(?)" "" "" "" "" "" "-" "0000015266" "00000005" "00" "1426" "0" "1426" "0" "c.1426C>G" "" "p.(Arg476Gly)" "r.(?)" "" "" "" "" "" "-" "0000015267" "00000004" "00" "1555" "0" "1555" "0" "c.1555C>T" "" "p.(Arg519Cys)" "r.(?)" "" "" "" "" "" "-" "0000015267" "00000005" "00" "1555" "0" "1555" "0" "c.1555C>T" "" "p.(Arg519Cys)" "r.(?)" "" "" "" "" "" "-" "0000015268" "00000004" "00" "1837" "0" "1838" "0" "c.1837_1838insG" "" "p.(Thr614Aspfs*35)" "r.(?)" "" "" "" "" "" "-" "0000015268" "00000005" "00" "1837" "0" "1838" "0" "c.1837_1838insG" "" "p.(Thr614Aspfs*35)" "r.(?)" "" "" "" "" "" "-" "0000015269" "00000004" "00" "1946" "0" "1946" "0" "c.1946G>C" "" "p.(Arg649Pro)" "r.(?)" "" "" "" "" "" "-" "0000015269" "00000005" "00" "1946" "0" "1946" "0" "c.1946G>C" "" "p.(Arg649Pro)" "r.(?)" "" "" "" "" "" "-" "0000015270" "00000004" "00" "2119" "0" "2119" "0" "c.2119C>T" "" "p.(Arg707Trp)" "r.(?)" "" "" "" "" "" "-" "0000015270" "00000005" "00" "2119" "0" "2119" "0" "c.2119C>T" "" "p.(Arg707Trp)" "r.(?)" "" "" "" "" "" "-" "0000015271" "00000004" "00" "2219" "0" "2219" "0" "c.2219G>C" "" "p.(Trp740Ser)" "r.(?)" "" "" "" "" "" "-" "0000015271" "00000005" "00" "2219" "0" "2219" "0" "c.2219G>C" "" "p.(Trp740Ser)" "r.(?)" "" "" "" "" "" "-" "0000015272" "00000004" "00" "2256" "0" "2256" "0" "c.2256C>A" "" "p.(Tyr752*)" "r.(?)" "" "" "" "" "" "-" "0000015272" "00000005" "00" "2256" "0" "2256" "0" "c.2256C>A" "" "p.(Tyr752*)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0