### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND2) # 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}}" "MT-ND2" "mitochondrially encoded NADH dehydrogenase 2" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7456" "4536" "516001" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "Y" "" "2" "Mitochondria chromosome located genes from HGNC" "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "00000" "0000-00-00 00:00:00" "00000" "0000-00-00 00:00:00" "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 = 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}}" "{{iNote}}" "{{chrom}}" "00001325" "MT-ND2" "MT-ND2-201" "000" "MT-ND2-201" "ENST00000361453" "" "ENSP00000355046" "" "" "0" "0" "0" "4470" "5511" "00001" "2013-11-15 15:00:00" "00000" "2015-03-12 15:00:00" "Manually imported from Ensembl Biomart" "M" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00011" "252010" "Mitochondrial complex I deficiency, 252010 (3)" "252010" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00072" "LHON" "LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705" "535000" "" "" "" "00001" "2013-11-13 09:27:26" "00001" "2014-03-27 15:58:45" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MT-ND2" "00011" "MT-ND2" "00072" ## 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 = 49 "{{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}}" "0000001372" "0" "99" "M" "4640" "4640" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000017" "m.4640C>A" "" "{PMID:11479733:11479733};{PMID:20301353:20301353}" "" "rs387906426" "subst" "0" "; clinVar; Mitomap; ensembl;" "-8.670" "" "" "" "" "MSCV_0001372" "" "0000001373" "0" "99" "M" "4681" "4681" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-11-12 11:34:55" "chrM_000018" "m.4681T>C" "" "{PMID:16738010:16738010}" "" "rs267606889" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.330" "" "" "" "" "MSCV_0001373" "" "0000001374" "0" "99" "M" "4810" "4810" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-11-11 17:17:42" "chrM_000019" "m.4810G>A" "" "{PMID:15781840:15781840}" "" "rs267606888" "subst" "0" "; clinVar; Ensembl;" "3.590" "" "" "" "" "MSCV_0001374" "" "0000001375" "0" "77" "M" "4917" "4917" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 14:08:35" "chrM_000020" "m.4917A>G" "" "{PMID:18461138:18461138};{PMID:1900003:1900003}" "" "rs28357980" "subst" "0" "; clinVar; Mitomap; Ensembl;" "0.148" "" "" "" "" "MSCV_0001375" "" "0000001377" "0" "99" "M" "5244" "5244" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-07-01 20:23:22" "chrM_000022" "m.5244G>A" "" "{PMID:1732158:1732158};{PMID:20301353:20301353}" "" "rs199476115" "subst" "0" "; clinVar; Mitomap; Ensembl;" "5.030" "" "" "" "" "MSCV_0001377" "" "0000004578" "0" "55" "M" "4491" "4491" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-09 04:17:22" "chrM_001309" "m.4491G>A" "" "" "" "rs201172504" "subst" "0" ";" "-2.700" "" "" "" "" "MSCV_0004578" "" "0000004580" "0" "55" "M" "4580" "4580" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-12 05:08:56" "chrM_001310" "m.4580G>A" "" "" "" "rs28357975" "subst" "0" ";" "-2.920" "" "" "" "" "MSCV_0004580" "" "0000004582" "0" "77" "M" "4633" "4633" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-04 22:08:39" "chrM_001068" "m.4633C>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.330" "" "" "" "" "MSCV_0004582" "" "0000004584" "0" "77" "M" "4648" "4648" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-12 01:22:40" "chrM_001069" "m.4648T>C" "" "" "" "" "subst" "0" "; Mitomap;" "4.330" "" "" "" "" "MSCV_0004584" "" "0000004585" "0" "55" "M" "4655" "4655" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-07 19:01:14" "chrM_001070" "m.4655G>A" "" "" "" "rs28600732" "subst" "0" ";" "-8.670" "" "" "" "" "MSCV_0004585" "" "0000004586" "0" "77" "M" "4659" "4659" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-11 17:29:08" "chrM_001071" "m.4659G>A" "" "" "" "" "subst" "0" "; Mitomap;" "1.720" "" "" "" "" "MSCV_0004586" "" "0000004588" "0" "55" "M" "4715" "4715" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-09 13:16:54" "chrM_001072" "m.4715A>G" "" "" "" "rs28357976" "subst" "0" ";" "-8.800" "" "" "" "" "MSCV_0004588" "" "0000004589" "0" "55" "M" "4732" "4732" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:07:18" "chrM_001073" "m.4732A>G" "" "" "" "rs201854167" "subst" "0" ";" "3.060" "" "" "" "" "MSCV_0004589" "" "0000004590" "0" "77" "M" "4769" "4769" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2020-05-22 07:47:39" "chrM_001074" "m.4769A>G" "" "" "" "rs3021086" "subst" "0" "; Mitomap;" "-8.800" "" "" "" "" "MSCV_0004590" "" "0000004591" "0" "00" "M" "4770" "4771" "del" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-25 04:52:48" "chrM_001075" "m.4770_4771del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0004591" "" "0000004593" "0" "55" "M" "4785" "4785" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 21:57:33" "chrM_001076" "m.4785C>G" "" "" "" "rs28613328" "subst" "0" ";" "2.370" "" "" "" "" "MSCV_0004593" "" "0000004595" "0" "55" "M" "4820" "4820" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-08-01 22:33:11" "chrM_001077" "m.4820G>A" "" "" "" "rs28357977" "subst" "0" ";" "1.520" "" "" "" "" "MSCV_0004595" "" "0000004596" "0" "55" "M" "4822" "4822" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001078" "m.4822T>G" "" "" "" "rs28571027" "subst" "0" ";" "4.470" "" "" "" "" "MSCV_0004596" "" "0000004597" "0" "77" "M" "4833" "4833" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 21:59:23" "chrM_001079" "m.4833A>G" "" "" "" "" "subst" "0" "; Mitomap;" "-6.890" "" "" "" "" "MSCV_0004597" "" "0000004598" "0" "55" "M" "4851" "4851" "subst" "7" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001080" "m.4851C>T" "" "" "" "rs28413696" "subst" "0" ";" "-9.270" "" "" "" "" "MSCV_0004598" "" "0000004599" "0" "77" "M" "4852" "4852" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 21:57:33" "chrM_001081" "m.4852T>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.630" "" "" "" "" "MSCV_0004599" "" "0000004600" "0" "55" "M" "4883" "4883" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-07-02 14:21:31" "chrM_001082" "m.4883C>T" "" "" "" "rs200763872" "subst" "0" ";" "-9.400" "" "" "" "" "MSCV_0004600" "" "0000004603" "0" "55" "M" "4926" "4926" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-04-30 17:50:24" "chrM_001083" "m.4926C>T" "" "" "" "rs28429662" "subst" "0" ";" "-9.400" "" "" "" "" "MSCV_0004603" "" "0000004604" "0" "55" "M" "4928" "4928" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-03-13 14:27:15" "chrM_001084" "m.4928T>C" "" "" "" "rs41461545" "subst" "0" ";" "-9.400" "" "" "" "" "MSCV_0004604" "" "0000004605" "0" "55" "M" "4977" "4977" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001085" "m.4977T>C" "" "" "" "rs28357981" "subst" "0" ";" "4.940" "" "" "" "" "MSCV_0004605" "" "0000004607" "0" "55" "M" "4985" "4985" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-10-27 02:11:57" "chrM_001086" "m.4985A>G" "" "" "" "rs3020561" "subst" "0" ";" "2.030" "" "" "" "" "MSCV_0004607" "" "0000004609" "0" "00" "M" "5001" "5002" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-12 03:32:12" "chrM_001087" "m.5001_5002insAT" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0004609" "" "0000004610" "0" "55" "M" "5004" "5004" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-09 04:28:41" "chrM_001088" "m.5004T>C" "" "" "" "rs41419549" "subst" "0" ";" "-4.410" "" "" "" "" "MSCV_0004610" "" "0000004611" "0" "55" "M" "5036" "5036" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-10-27 02:11:50" "chrM_001311" "m.5036A>G" "" "" "" "rs28357982" "subst" "0" ";" "2.190" "" "" "" "" "MSCV_0004611" "" "0000004612" "0" "55" "M" "5049" "5049" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-11 22:06:42" "chrM_001312" "m.5049C>G" "" "" "" "rs28494478" "subst" "0" ";" "-9.750" "" "" "" "" "MSCV_0004612" "" "0000004613" "0" "55" "M" "5054" "5054" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001313" "m.5054G>A" "" "" "" "rs28570593" "subst" "0" ";" "-9.750" "" "" "" "" "MSCV_0004613" "" "0000004614" "0" "55" "M" "5066" "5066" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 22:51:40" "chrM_001314" "m.5066C>T" "" "" "" "rs28415376" "subst" "0" ";" "-9.750" "" "" "" "" "MSCV_0004614" "" "0000004620" "0" "77" "M" "5178" "5178" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-09 23:44:41" "chrM_001315" "m.5178C>A" "" "" "" "rs28357984" "subst" "0" "; Mitomap;" "-10.200" "" "" "" "" "MSCV_0004620" "" "0000004623" "0" "55" "M" "5250" "5250" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001274" "m.5250T>C" "" "" "" "rs28643483" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0004623" "" "0000004624" "0" "55" "M" "5263" "5263" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-12 10:49:55" "chrM_001275" "m.5263C>T" "" "" "" "rs41320049" "subst" "0" ";" "-0.806" "" "" "" "" "MSCV_0004624" "" "0000004625" "0" "55" "M" "5285" "5285" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-12 03:20:37" "chrM_001276" "m.5285A>G" "" "" "" "rs28357986" "subst" "0" ";" "2.030" "" "" "" "" "MSCV_0004625" "" "0000004626" "0" "55" "M" "5293" "5293" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-10-10 11:45:10" "chrM_001277" "m.5293G>C" "" "" "" "rs28690990" "subst" "0" ";" "-9.630" "" "" "" "" "MSCV_0004626" "" "0000004627" "0" "55" "M" "5301" "5301" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 22:51:42" "chrM_001278" "m.5301A>G" "" "" "" "rs199794187" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0004627" "" "0000004628" "0" "55" "M" "5319" "5319" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 22:51:42" "chrM_001279" "m.5319A>G" "" "" "" "rs28456039" "subst" "0" ";" "0.276" "" "" "" "" "MSCV_0004628" "" "0000004629" "0" "55" "M" "5331" "5331" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001280" "m.5331C>A" "" "" "" "rs200778062" "subst" "0" ";" "-4.730" "" "" "" "" "MSCV_0004629" "" "0000004630" "0" "55" "M" "5390" "5390" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 22:51:42" "chrM_001281" "m.5390A>G" "" "" "" "rs41333444" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0004630" "" "0000004631" "0" "55" "M" "5393" "5393" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001282" "m.5393T>C" "" "" "" "rs28357987" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0004631" "" "0000004632" "0" "55" "M" "5399" "5399" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 22:51:42" "chrM_001283" "m.5399C>A" "" "" "" "rs28631235" "subst" "0" ";" "-6.480" "" "" "" "" "MSCV_0004632" "" "0000004633" "0" "55" "M" "5442" "5442" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 22:51:42" "chrM_001284" "m.5442T>C" "" "" "" "rs3020601" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0004633" "" "0000004634" "0" "77" "M" "5452" "5452" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 22:51:42" "chrM_001285" "m.5452C>T" "" "" "" "" "subst" "0" "; Mitomap;" "2.870" "" "" "" "" "MSCV_0004634" "" "0000004635" "0" "77" "M" "5460" "5460" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-11-08 14:09:53" "chrM_001286" "m.5460G>A" "" "" "" "rs3021088" "subst" "0" "; Mitomap;" "-9.740" "" "" "" "" "MSCV_0004635" "" "0000004636" "0" "77" "M" "5460" "5460" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-06 13:45:13" "chrM_001287" "m.5460G>T" "" "" "" "rs3021088" "subst" "0" "; Mitomap;" "-9.740" "" "" "" "" "MSCV_0004636" "" "0000004637" "0" "55" "M" "5465" "5465" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-10-27 02:11:13" "chrM_001288" "m.5465T>C" "" "" "" "rs3902405" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0004637" "" "0000004638" "0" "55" "M" "5495" "5495" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-11-03 13:48:46" "chrM_001289" "m.5495T>C" "" "" "" "rs3020602" "subst" "0" ";" "-1.620" "" "" "" "" "MSCV_0004638" "" ## 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 = 49 "{{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}}" "0000001372" "00001325" "99" "0" "0" "0" "0" "c.171C>A" "." "p.I57M" "r.(?)" "" "" "" "" "" "-" "0000001373" "00001325" "99" "0" "0" "0" "0" "c.212T>C" "." "p.L71P" "r.(?)" "" "" "" "" "" "-" "0000001374" "00001325" "99" "0" "0" "0" "0" "c.341G>A" "." "p.W114*" "r.(?)" "" "" "" "" "" "-" "0000001375" "00001325" "77" "0" "0" "0" "0" "c.448A>G" "." "p.N150D" "r.(?)" "" "" "" "" "" "-" "0000001377" "00001325" "99" "0" "0" "0" "0" "c.775G>A" "." "p.G259S" "r.(?)" "" "" "" "" "" "-" "0000004578" "00001325" "55" "0" "0" "0" "0" "c.22G>A" "." "p.V8I" "r.(?)" "" "" "" "" "" "-" "0000004580" "00001325" "55" "0" "0" "0" "0" "c.111G>A" "." "p.M37M" "r.(?)" "" "" "" "" "" "-" "0000004582" "00001325" "77" "0" "0" "0" "0" "c.164C>G" "." "p.A55G" "r.(?)" "" "" "" "" "" "-" "0000004584" "00001325" "77" "0" "0" "0" "0" "c.179T>C" "." "p.F60S" "r.(?)" "" "" "" "" "" "-" "0000004585" "00001325" "55" "0" "0" "0" "0" "c.186G>A" "." "p.T62T" "r.(?)" "" "" "" "" "" "-" "0000004586" "00001325" "77" "0" "0" "0" "0" "c.190G>A" "." "p.A64T" "r.(?)" "" "" "" "" "" "-" "0000004588" "00001325" "55" "0" "0" "0" "0" "c.246A>G" "." "p.G82G" "r.(?)" "" "" "" "" "" "-" "0000004589" "00001325" "55" "0" "0" "0" "0" "c.263A>G" "." "p.N88S" "r.(?)" "" "" "" "" "" "-" "0000004590" "00001325" "77" "0" "0" "0" "0" "c.300A>G" "." "p.M100M" "r.(?)" "" "" "" "" "" "-" "0000004591" "00001325" "00" "0" "0" "0" "0" "c.302_302del" "." "p.A101NA" "r.(?)" "" "" "" "" "" "-" "0000004593" "00001325" "55" "0" "0" "0" "0" "c.316C>G" "." "p.L106V" "r.(?)" "" "" "" "" "" "-" "0000004595" "00001325" "55" "0" "0" "0" "0" "c.351G>A" "." "p.E117E" "r.(?)" "" "" "" "" "" "-" "0000004596" "00001325" "55" "0" "0" "0" "0" "c.353T>G" "." "p.V118G" "r.(?)" "" "" "" "" "" "-" "0000004597" "00001325" "77" "0" "0" "0" "0" "c.364A>G" "." "p.T122A" "r.(?)" "" "" "" "" "" "-" "0000004598" "00001325" "55" "0" "0" "0" "0" "c.382C>T" "." "p.L128L" "r.(?)" "" "" "" "" "" "-" "0000004599" "00001325" "77" "0" "0" "0" "0" "c.383T>A" "." "p.L128Q" "r.(?)" "" "" "" "" "" "-" "0000004600" "00001325" "55" "0" "0" "0" "0" "c.414C>T" "." "p.P138P" "r.(?)" "" "" "" "" "" "-" "0000004603" "00001325" "55" "0" "0" "0" "0" "c.457C>T" "." "p.L153F" "r.(?)" "" "" "" "" "" "-" "0000004604" "00001325" "55" "0" "0" "0" "0" "c.459T>C" "." "p.L153L" "r.(?)" "" "" "" "" "" "-" "0000004605" "00001325" "55" "0" "0" "0" "0" "c.508T>C" "." "p.L170L" "r.(?)" "" "" "" "" "" "-" "0000004607" "00001325" "55" "0" "0" "0" "0" "c.516A>G" "." "p.Q172Q" "r.(?)" "" "" "" "" "" "-" "0000004609" "00001325" "00" "0" "0" "0" "0" "c.532_533insAT" "." "p.I178NA" "r.(?)" "" "" "" "" "" "-" "0000004610" "00001325" "55" "0" "0" "0" "0" "c.535T>C" "." "p.L179L" "r.(?)" "" "" "" "" "" "-" "0000004611" "00001325" "55" "0" "0" "0" "0" "c.567A>G" "." "p.W189W" "r.(?)" "" "" "" "" "" "-" "0000004612" "00001325" "55" "0" "0" "0" "0" "c.580C>G" "." "p.L194V" "r.(?)" "" "" "" "" "" "-" "0000004613" "00001325" "55" "0" "0" "0" "0" "c.585G>A" "." "p.P195P" "r.(?)" "" "" "" "" "" "-" "0000004614" "00001325" "55" "0" "0" "0" "0" "c.597C>T" "." "p.N199N" "r.(?)" "" "" "" "" "" "-" "0000004620" "00001325" "77" "0" "0" "0" "0" "c.709C>A" "." "p.L237M" "r.(?)" "" "" "" "" "" "-" "0000004623" "00001325" "55" "0" "0" "0" "0" "c.781T>C" "." "p.L261L" "r.(?)" "" "" "" "" "" "-" "0000004624" "00001325" "55" "0" "0" "0" "0" "c.794C>T" "." "p.A265V" "r.(?)" "" "" "" "" "" "-" "0000004625" "00001325" "55" "0" "0" "0" "0" "c.816A>G" "." "p.K272K" "r.(?)" "" "" "" "" "" "-" "0000004626" "00001325" "55" "0" "0" "0" "0" "c.824G>C" "." "p.S275T" "r.(?)" "" "" "" "" "" "-" "0000004627" "00001325" "55" "0" "0" "0" "0" "c.832A>G" "." "p.I278V" "r.(?)" "" "" "" "" "" "-" "0000004628" "00001325" "55" "0" "0" "0" "0" "c.850A>G" "." "p.T284A" "r.(?)" "" "" "" "" "" "-" "0000004629" "00001325" "55" "0" "0" "0" "0" "c.862C>A" "." "p.L288I" "r.(?)" "" "" "" "" "" "-" "0000004630" "00001325" "55" "0" "0" "0" "0" "c.921A>G" "." "p.M307M" "r.(?)" "" "" "" "" "" "-" "0000004631" "00001325" "55" "0" "0" "0" "0" "c.924T>C" "." "p.S308S" "r.(?)" "" "" "" "" "" "-" "0000004632" "00001325" "55" "0" "0" "0" "0" "c.930C>A" "." "p.N310K" "r.(?)" "" "" "" "" "" "-" "0000004633" "00001325" "55" "0" "0" "0" "0" "c.973T>C" "." "p.F325L" "r.(?)" "" "" "" "" "" "-" "0000004634" "00001325" "77" "0" "0" "0" "0" "c.983C>T" "." "p.T328M" "r.(?)" "" "" "" "" "" "-" "0000004635" "00001325" "77" "0" "0" "0" "0" "c.991G>A" "." "p.A331T" "r.(?)" "" "" "" "" "" "-" "0000004636" "00001325" "77" "0" "0" "0" "0" "c.991G>T" "." "p.A331S" "r.(?)" "" "" "" "" "" "-" "0000004637" "00001325" "55" "0" "0" "0" "0" "c.996T>C" "." "p.L332L" "r.(?)" "" "" "" "" "" "-" "0000004638" "00001325" "55" "0" "0" "0" "0" "c.1026T>C" "." "p.F342F" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0