### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNM1L) # 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}}" "DNM1L" "dynamin 1-like" "12" "p11.21" "unknown" "NC_000012.11" "UD_138304975842" "" "" "" "1" "1" "2973" "10059" "603850" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "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 = 9 "{{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}}" "00000103" "DNM1L" "transcript variant 5" "001" "NM_001278464.1" "" "NP_001265393.1" "" "" "" "-164" "4490" "2250" "32832134" "32898584" "00001" "2013-11-07 13:47:47" "" "" "" "12" "00000104" "DNM1L" "transcript variant 6" "002" "NM_001278465.1" "" "NP_001265394.1" "" "" "" "-164" "4457" "2217" "32832134" "32898584" "00001" "2013-11-07 13:47:47" "" "" "" "12" "00000105" "DNM1L" "transcript variant 7" "003" "NM_001278466.1" "" "NP_001265395.1" "" "" "" "-369" "3842" "1602" "32832134" "32898584" "00001" "2013-11-07 13:47:47" "" "" "" "12" "00000106" "DNM1L" "transcript variant 1" "004" "NM_012062.4" "" "NP_036192.2" "" "" "" "-164" "4451" "2211" "32832134" "32898584" "00001" "2013-11-07 13:47:47" "" "" "" "12" "00000107" "DNM1L" "transcript variant 4" "005" "NM_001278463.1" "" "NP_001265392.1" "" "" "" "-164" "4418" "2178" "32832134" "32898584" "00001" "2013-11-07 13:47:47" "" "" "" "12" "00000108" "DNM1L" "transcript variant 2" "006" "NM_012063.3" "" "NP_036193.2" "" "" "" "-164" "4373" "2133" "32832134" "32898584" "00001" "2013-11-07 13:47:47" "" "" "" "12" "00000109" "DNM1L" "transcript variant 3" "007" "NM_005690.4" "" "NP_005681.2" "" "" "" "-164" "4340" "2100" "32832134" "32898584" "00001" "2013-11-07 13:47:47" "" "" "" "12" "00000110" "DNM1L" "transcript variant X1" "008" "XM_005253282.1" "" "XP_005253339.1" "" "" "" "-48" "4276" "2139" "32832250" "32898481" "00001" "2013-11-07 13:47:47" "" "" "" "12" "00000111" "DNM1L" "transcript variant X2" "009" "XM_005253283.1" "" "XP_005253340.1" "" "" "" "-625" "3901" "1764" "32832642" "32898481" "00001" "2013-11-07 13:47:47" "" "" "" "12" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00014" "614388" "Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3)" "614388" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNM1L" "00014" ## 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 = 24 "{{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}}" "0000000470" "0" "99" "12" "32884052" "32884052" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-04-30 11:14:10" "chr12_000001" "g.32884052C>A" "" "{PMID:17460227:17460227}" "" "rs121908531" "subst" "0" "; clinVar; Ensembl;" "4.910" "" "" "" "" "MSCV_0000470" "" "0000016913" "0" "99" "12" "32854352" "32854352" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 13:38:29" "DNM1L_000010" "g.32854352A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016913" "" "0000016914" "0" "99" "12" "32858768" "32858769" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:20:11" "DNM1L_000007" "g.32858768_32858769insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016914" "" "0000016915" "0" "99" "12" "32861134" "32861135" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:20:19" "DNM1L_000008" "g.32861134_32861135del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016915" "" "0000016916" "0" "99" "12" "32875536" "32875536" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:20:26" "DNM1L_000009" "g.32875536G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016916" "" "0000016917" "0" "99" "12" "32883952" "32883952" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:56:54" "DNM1L_000001" "g.32883952G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016917" "" "0000016918" "0" "99" "12" "32883953" "32883953" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:57:04" "DNM1L_000002" "g.32883953G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016918" "" "0000016919" "0" "77" "12" "32884003" "32884003" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:57:14" "DNM1L_000003" "g.32884003G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016919" "" "0000016920" "0" "99" "12" "32884052" "32884052" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 13:38:29" "DNM1L_000004" "g.32884052C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000470" "" "0000016921" "0" "99" "12" "32884296" "32884296" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:57:34" "DNM1L_000005" "g.32884296C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016921" "" "0000016922" "0" "77" "12" "32884426" "32884426" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:57:44" "DNM1L_000006" "g.32884426G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016922" "" "0000024564" "0" "00" "12" "32861094" "32861094" "subst" "35" "0.000309693" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:56:17" "DNM1L_000023" "g.32861094C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024565" "0" "00" "12" "32895600" "32895600" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:41:21" "DNM1L_000022" "g.32895600A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024566" "0" "00" "12" "32896365" "32896365" "subst" "35" "0.0389051" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-02-20 22:37:51" "DNM1L_000019" "g.32896365G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024567" "0" "00" "12" "32896366" "32896366" "subst" "35" "0.0343688" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:16:18" "DNM1L_000020" "g.32896366A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024568" "0" "00" "12" "32896615" "32896615" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-22 07:46:43" "DNM1L_000021" "g.32896615C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024569" "0" "00" "12" "32896737" "32896737" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-06 09:25:03" "DNM1L_000011" "g.32896737A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024570" "0" "00" "12" "32896944" "32896944" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:46:08" "DNM1L_000012" "g.32896944C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024571" "0" "00" "12" "32897088" "32897088" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-30 19:14:09" "DNM1L_000013" "g.32897088A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024572" "0" "00" "12" "32897437" "32897437" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:47:53" "DNM1L_000014" "g.32897437T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024573" "0" "00" "12" "32897500" "32897500" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-30 19:14:09" "DNM1L_000015" "g.32897500G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024574" "0" "00" "12" "32897557" "32897557" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:49:37" "DNM1L_000016" "g.32897557G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024575" "0" "00" "12" "32897586" "32897586" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:50:28" "DNM1L_000017" "g.32897586G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024576" "0" "00" "12" "32897759" "32897759" "subst" "35" "0.0124561" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:51:20" "DNM1L_000018" "g.32897759T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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 = 216 "{{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}}" "0000000470" "00000103" "99" "1223" "0" "1223" "0" "c.1223C>A" "11/20" "p.(Ala408Asp)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000000470" "00000104" "99" "1223" "0" "1223" "0" "c.1223C>A" "11/20" "p.(Ala408Asp)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000000470" "00000105" "99" "575" "0" "575" "0" "c.575C>A" "7/17" "p.(Ala192Asp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000470" "00000106" "99" "1184" "0" "1184" "0" "c.1184C>A" "10/18" "p.(Ala395Asp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000470" "00000107" "99" "1184" "0" "1184" "0" "c.1184C>A" "10/18" "p.(Ala395Asp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000470" "00000108" "99" "1184" "0" "1184" "0" "c.1184C>A" "10/18" "p.(Ala395Asp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000470" "00000109" "99" "1184" "0" "1184" "0" "c.1184C>A" "10/18" "p.(Ala395Asp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000470" "00000110" "99" "1223" "0" "1223" "0" "c.1223C>A" "11/20" "p.(Ala408Asp)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000000470" "00000111" "99" "737" "0" "737" "0" "c.737C>A" "10/20" "p.(Ala246Asp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000016913" "00000103" "00" "106" "0" "106" "0" "c.106A>G" "" "p.(Ser36Gly)" "r.(?)" "" "" "" "" "" "-" "0000016913" "00000104" "00" "106" "0" "106" "0" "c.106A>G" "" "p.(Ser36Gly)" "r.(?)" "" "" "" "" "" "-" "0000016913" "00000105" "00" "-100" "0" "-100" "0" "c.-100A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016913" "00000106" "00" "106" "0" "106" "0" "c.106A>G" "" "p.(Ser36Gly)" "r.(?)" "" "" "" "" "" "-" "0000016913" "00000107" "00" "106" "0" "106" "0" "c.106A>G" "" "p.(Ser36Gly)" "r.(?)" "" "" "" "" "" "-" "0000016913" "00000108" "00" "106" "0" "106" "0" "c.106A>G" "" "p.(Ser36Gly)" "r.(?)" "" "" "" "" "" "-" "0000016913" "00000109" "00" "106" "0" "106" "0" "c.106A>G" "" "p.(Ser36Gly)" "r.(?)" "" "" "" "" "" "-" "0000016913" "00000110" "00" "106" "0" "106" "0" "c.106A>G" "" "p.(Ser36Gly)" "r.(?)" "" "" "" "" "" "-" "0000016913" "00000111" "00" "-342" "0" "-342" "0" "c.-342A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016914" "00000103" "00" "260" "0" "261" "0" "c.260_261insA" "" "p.(Trp88Metfs*9)" "r.(?)" "" "" "" "" "" "-" "0000016914" "00000104" "00" "260" "0" "261" "0" "c.260_261insA" "" "p.(Trp88Metfs*9)" "r.(?)" "" "" "" "" "" "-" "0000016914" "00000105" "00" "55" "0" "56" "0" "c.55_56insA" "" "p.(His19Glnfs*32)" "r.(?)" "" "" "" "" "" "-" "0000016914" "00000106" "00" "251" "-1533" "251" "-1532" "c.251-1533_251-1532insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016914" "00000107" "00" "251" "-1533" "251" "-1532" "c.251-1533_251-1532insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016914" "00000108" "00" "251" "-1533" "251" "-1532" "c.251-1533_251-1532insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016914" "00000109" "00" "251" "-1533" "251" "-1532" "c.251-1533_251-1532insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016914" "00000110" "00" "260" "0" "261" "0" "c.260_261insA" "" "p.(Trp88Metfs*9)" "r.(?)" "" "" "" "" "" "-" "0000016914" "00000111" "00" "-197" "-1533" "-197" "-1532" "c.-197-1533_-197-1532insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016915" "00000103" "00" "384" "0" "385" "0" "c.384_385del" "" "p.(Glu129Lysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000016915" "00000104" "00" "384" "0" "385" "0" "c.384_385del" "" "p.(Glu129Lysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000016915" "00000105" "00" "131" "787" "131" "788" "c.131+787_131+788del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016915" "00000106" "00" "345" "0" "346" "0" "c.345_346del" "" "p.(Glu116Lysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000016915" "00000107" "00" "345" "0" "346" "0" "c.345_346del" "" "p.(Glu116Lysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000016915" "00000108" "00" "345" "0" "346" "0" "c.345_346del" "" "p.(Glu116Lysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000016915" "00000109" "00" "345" "0" "346" "0" "c.345_346del" "" "p.(Glu116Lysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000016915" "00000110" "00" "384" "0" "385" "0" "c.384_385del" "" "p.(Glu129Lysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000016915" "00000111" "00" "-103" "0" "-102" "0" "c.-103_-102del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016916" "00000103" "00" "1087" "0" "1087" "0" "c.1087G>A" "" "p.(Gly363Arg)" "r.(?)" "" "" "" "" "" "-" "0000016916" "00000104" "00" "1087" "0" "1087" "0" "c.1087G>A" "" "p.(Gly363Arg)" "r.(?)" "" "" "" "" "" "-" "0000016916" "00000105" "00" "439" "0" "439" "0" "c.439G>A" "" "p.(Gly147Arg)" "r.(?)" "" "" "" "" "" "-" "0000016916" "00000106" "00" "1048" "0" "1048" "0" "c.1048G>A" "" "p.(Gly350Arg)" "r.(?)" "" "" "" "" "" "-" "0000016916" "00000107" "00" "1048" "0" "1048" "0" "c.1048G>A" "" "p.(Gly350Arg)" "r.(?)" "" "" "" "" "" "-" "0000016916" "00000108" "00" "1048" "0" "1048" "0" "c.1048G>A" "" "p.(Gly350Arg)" "r.(?)" "" "" "" "" "" "-" "0000016916" "00000109" "00" "1048" "0" "1048" "0" "c.1048G>A" "" "p.(Gly350Arg)" "r.(?)" "" "" "" "" "" "-" "0000016916" "00000110" "00" "1087" "0" "1087" "0" "c.1087G>A" "" "p.(Gly363Arg)" "r.(?)" "" "" "" "" "" "-" "0000016916" "00000111" "00" "601" "0" "601" "0" "c.601G>A" "" "p.(Gly201Arg)" "r.(?)" "" "" "" "" "" "-" "0000016917" "00000103" "00" "1123" "0" "1123" "0" "c.1123G>A" "" "p.(Gly375Ser)" "r.(?)" "" "" "" "" "" "-" "0000016917" "00000104" "00" "1123" "0" "1123" "0" "c.1123G>A" "" "p.(Gly375Ser)" "r.(?)" "" "" "" "" "" "-" "0000016917" "00000105" "00" "475" "0" "475" "0" "c.475G>A" "" "p.(Gly159Ser)" "r.(?)" "" "" "" "" "" "-" "0000016917" "00000106" "00" "1084" "0" "1084" "0" "c.1084G>A" "" "p.(Gly362Ser)" "r.(?)" "" "" "" "" "" "-" "0000016917" "00000107" "00" "1084" "0" "1084" "0" "c.1084G>A" "" "p.(Gly362Ser)" "r.(?)" "" "" "" "" "" "-" "0000016917" "00000108" "00" "1084" "0" "1084" "0" "c.1084G>A" "" "p.(Gly362Ser)" "r.(?)" "" "" "" "" "" "-" "0000016917" "00000109" "00" "1084" "0" "1084" "0" "c.1084G>A" "" "p.(Gly362Ser)" "r.(?)" "" "" "" "" "" "-" "0000016917" "00000110" "00" "1123" "0" "1123" "0" "c.1123G>A" "" "p.(Gly375Ser)" "r.(?)" "" "" "" "" "" "-" "0000016917" "00000111" "00" "637" "0" "637" "0" "c.637G>A" "" "p.(Gly213Ser)" "r.(?)" "" "" "" "" "" "-" "0000016918" "00000103" "00" "1124" "0" "1124" "0" "c.1124G>A" "" "p.(Gly375Asp)" "r.(?)" "" "" "" "" "" "-" "0000016918" "00000104" "00" "1124" "0" "1124" "0" "c.1124G>A" "" "p.(Gly375Asp)" "r.(?)" "" "" "" "" "" "-" "0000016918" "00000105" "00" "476" "0" "476" "0" "c.476G>A" "" "p.(Gly159Asp)" "r.(?)" "" "" "" "" "" "-" "0000016918" "00000106" "00" "1085" "0" "1085" "0" "c.1085G>A" "" "p.(Gly362Asp)" "r.(?)" "" "" "" "" "" "-" "0000016918" "00000107" "00" "1085" "0" "1085" "0" "c.1085G>A" "" "p.(Gly362Asp)" "r.(?)" "" "" "" "" "" "-" "0000016918" "00000108" "00" "1085" "0" "1085" "0" "c.1085G>A" "" "p.(Gly362Asp)" "r.(?)" "" "" "" "" "" "-" "0000016918" "00000109" "00" "1085" "0" "1085" "0" "c.1085G>A" "" "p.(Gly362Asp)" "r.(?)" "" "" "" "" "" "-" "0000016918" "00000110" "00" "1124" "0" "1124" "0" "c.1124G>A" "" "p.(Gly375Asp)" "r.(?)" "" "" "" "" "" "-" "0000016918" "00000111" "00" "638" "0" "638" "0" "c.638G>A" "" "p.(Gly213Asp)" "r.(?)" "" "" "" "" "" "-" "0000016919" "00000103" "00" "1174" "0" "1174" "0" "c.1174G>A" "" "p.(Glu392Lys)" "r.(?)" "" "" "" "" "" "-" "0000016919" "00000104" "00" "1174" "0" "1174" "0" "c.1174G>A" "" "p.(Glu392Lys)" "r.(?)" "" "" "" "" "" "-" "0000016919" "00000105" "00" "526" "0" "526" "0" "c.526G>A" "" "p.(Glu176Lys)" "r.(?)" "" "" "" "" "" "-" "0000016919" "00000106" "00" "1135" "0" "1135" "0" "c.1135G>A" "" "p.(Glu379Lys)" "r.(?)" "" "" "" "" "" "-" "0000016919" "00000107" "00" "1135" "0" "1135" "0" "c.1135G>A" "" "p.(Glu379Lys)" "r.(?)" "" "" "" "" "" "-" "0000016919" "00000108" "00" "1135" "0" "1135" "0" "c.1135G>A" "" "p.(Glu379Lys)" "r.(?)" "" "" "" "" "" "-" "0000016919" "00000109" "00" "1135" "0" "1135" "0" "c.1135G>A" "" "p.(Glu379Lys)" "r.(?)" "" "" "" "" "" "-" "0000016919" "00000110" "00" "1174" "0" "1174" "0" "c.1174G>A" "" "p.(Glu392Lys)" "r.(?)" "" "" "" "" "" "-" "0000016919" "00000111" "00" "688" "0" "688" "0" "c.688G>A" "" "p.(Glu230Lys)" "r.(?)" "" "" "" "" "" "-" "0000016920" "00000103" "00" "1223" "0" "1223" "0" "c.1223C>A" "" "p.(Ala408Asp)" "r.(?)" "" "" "" "" "" "-" "0000016920" "00000104" "00" "1223" "0" "1223" "0" "c.1223C>A" "" "p.(Ala408Asp)" "r.(?)" "" "" "" "" "" "-" "0000016920" "00000105" "00" "575" "0" "575" "0" "c.575C>A" "" "p.(Ala192Asp)" "r.(?)" "" "" "" "" "" "-" "0000016920" "00000106" "00" "1184" "0" "1184" "0" "c.1184C>A" "" "p.(Ala395Asp)" "r.(?)" "" "" "" "" "" "-" "0000016920" "00000107" "00" "1184" "0" "1184" "0" "c.1184C>A" "" "p.(Ala395Asp)" "r.(?)" "" "" "" "" "" "-" "0000016920" "00000108" "00" "1184" "0" "1184" "0" "c.1184C>A" "" "p.(Ala395Asp)" "r.(?)" "" "" "" "" "" "-" "0000016920" "00000109" "00" "1184" "0" "1184" "0" "c.1184C>A" "" "p.(Ala395Asp)" "r.(?)" "" "" "" "" "" "-" "0000016920" "00000110" "00" "1223" "0" "1223" "0" "c.1223C>A" "" "p.(Ala408Asp)" "r.(?)" "" "" "" "" "" "-" "0000016920" "00000111" "00" "737" "0" "737" "0" "c.737C>A" "" "p.(Ala246Asp)" "r.(?)" "" "" "" "" "" "-" "0000016921" "00000103" "00" "1246" "0" "1246" "0" "c.1246C>T" "" "p.(Arg416Cys)" "r.(?)" "" "" "" "" "" "-" "0000016921" "00000104" "00" "1246" "0" "1246" "0" "c.1246C>T" "" "p.(Arg416Cys)" "r.(?)" "" "" "" "" "" "-" "0000016921" "00000105" "00" "598" "0" "598" "0" "c.598C>T" "" "p.(Arg200Cys)" "r.(?)" "" "" "" "" "" "-" "0000016921" "00000106" "00" "1207" "0" "1207" "0" "c.1207C>T" "" "p.(Arg403Cys)" "r.(?)" "" "" "" "" "" "-" "0000016921" "00000107" "00" "1207" "0" "1207" "0" "c.1207C>T" "" "p.(Arg403Cys)" "r.(?)" "" "" "" "" "" "-" "0000016921" "00000108" "00" "1207" "0" "1207" "0" "c.1207C>T" "" "p.(Arg403Cys)" "r.(?)" "" "" "" "" "" "-" "0000016921" "00000109" "00" "1207" "0" "1207" "0" "c.1207C>T" "" "p.(Arg403Cys)" "r.(?)" "" "" "" "" "" "-" "0000016921" "00000110" "00" "1246" "0" "1246" "0" "c.1246C>T" "" "p.(Arg416Cys)" "r.(?)" "" "" "" "" "" "-" "0000016921" "00000111" "00" "760" "0" "760" "0" "c.760C>T" "" "p.(Arg254Cys)" "r.(?)" "" "" "" "" "" "-" "0000016922" "00000103" "00" "1376" "0" "1376" "0" "c.1376G>T" "" "p.(Cys459Phe)" "r.(?)" "" "" "" "" "" "-" "0000016922" "00000104" "00" "1376" "0" "1376" "0" "c.1376G>T" "" "p.(Cys459Phe)" "r.(?)" "" "" "" "" "" "-" "0000016922" "00000105" "00" "728" "0" "728" "0" "c.728G>T" "" "p.(Cys243Phe)" "r.(?)" "" "" "" "" "" "-" "0000016922" "00000106" "00" "1337" "0" "1337" "0" "c.1337G>T" "" "p.(Cys446Phe)" "r.(?)" "" "" "" "" "" "-" "0000016922" "00000107" "00" "1337" "0" "1337" "0" "c.1337G>T" "" "p.(Cys446Phe)" "r.(?)" "" "" "" "" "" "-" "0000016922" "00000108" "00" "1337" "0" "1337" "0" "c.1337G>T" "" "p.(Cys446Phe)" "r.(?)" "" "" "" "" "" "-" "0000016922" "00000109" "00" "1337" "0" "1337" "0" "c.1337G>T" "" "p.(Cys446Phe)" "r.(?)" "" "" "" "" "" "-" "0000016922" "00000110" "00" "1376" "0" "1376" "0" "c.1376G>T" "" "p.(Cys459Phe)" "r.(?)" "" "" "" "" "" "-" "0000016922" "00000111" "00" "890" "0" "890" "0" "c.890G>T" "" "p.(Cys297Phe)" "r.(?)" "" "" "" "" "" "-" "0000024564" "00000103" "00" "344" "0" "344" "0" "c.344C>T" "" "p.(Thr115Met)" "r.(?)" "" "" "" "" "" "-" "0000024564" "00000104" "00" "344" "0" "344" "0" "c.344C>T" "" "p.(Thr115Met)" "r.(?)" "" "" "" "" "" "-" "0000024564" "00000105" "00" "131" "747" "131" "747" "c.131+747C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024564" "00000106" "00" "305" "0" "305" "0" "c.305C>T" "" "p.(Thr102Met)" "r.(?)" "" "" "" "" "" "-" "0000024564" "00000107" "00" "305" "0" "305" "0" "c.305C>T" "" "p.(Thr102Met)" "r.(?)" "" "" "" "" "" "-" "0000024564" "00000108" "00" "305" "0" "305" "0" "c.305C>T" "" "p.(Thr102Met)" "r.(?)" "" "" "" "" "" "-" "0000024564" "00000109" "00" "305" "0" "305" "0" "c.305C>T" "" "p.(Thr102Met)" "r.(?)" "" "" "" "" "" "-" "0000024564" "00000110" "00" "344" "0" "344" "0" "c.344C>T" "" "p.(Thr115Met)" "r.(?)" "" "" "" "" "" "-" "0000024564" "00000111" "00" "-143" "0" "-143" "0" "c.-143C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024565" "00000103" "00" "2111" "0" "2111" "0" "c.2111A>G" "" "p.(Tyr704Cys)" "r.(?)" "" "" "" "" "" "-" "0000024565" "00000104" "00" "2078" "0" "2078" "0" "c.2078A>G" "" "p.(Tyr693Cys)" "r.(?)" "" "" "" "" "" "-" "0000024565" "00000105" "00" "1463" "0" "1463" "0" "c.1463A>G" "" "p.(Tyr488Cys)" "r.(?)" "" "" "" "" "" "-" "0000024565" "00000106" "00" "2072" "0" "2072" "0" "c.2072A>G" "" "p.(Tyr691Cys)" "r.(?)" "" "" "" "" "" "-" "0000024565" "00000107" "00" "2039" "0" "2039" "0" "c.2039A>G" "" "p.(Tyr680Cys)" "r.(?)" "" "" "" "" "" "-" "0000024565" "00000108" "00" "1994" "0" "1994" "0" "c.1994A>G" "" "p.(Tyr665Cys)" "r.(?)" "" "" "" "" "" "-" "0000024565" "00000109" "00" "1961" "0" "1961" "0" "c.1961A>G" "" "p.(Tyr654Cys)" "r.(?)" "" "" "" "" "" "-" "0000024565" "00000110" "00" "2000" "0" "2000" "0" "c.2000A>G" "" "p.(Tyr667Cys)" "r.(?)" "" "" "" "" "" "-" "0000024565" "00000111" "00" "1625" "0" "1625" "0" "c.1625A>G" "" "p.(Tyr542Cys)" "r.(?)" "" "" "" "" "" "-" "0000024566" "00000103" "00" "2271" "0" "2271" "0" "c.*21G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024566" "00000104" "00" "2238" "0" "2238" "0" "c.*21G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024566" "00000105" "00" "1623" "0" "1623" "0" "c.*21G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024566" "00000106" "00" "2232" "0" "2232" "0" "c.*21G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024566" "00000107" "00" "2199" "0" "2199" "0" "c.*21G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024566" "00000108" "00" "2154" "0" "2154" "0" "c.*21G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024566" "00000109" "00" "2121" "0" "2121" "0" "c.*21G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024566" "00000110" "00" "2160" "0" "2160" "0" "c.*21G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024566" "00000111" "00" "1785" "0" "1785" "0" "c.*21G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024567" "00000103" "00" "2272" "0" "2272" "0" "c.*22A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024567" "00000104" "00" "2239" "0" "2239" "0" "c.*22A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024567" "00000105" "00" "1624" "0" "1624" "0" "c.*22A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024567" "00000106" "00" "2233" "0" "2233" "0" "c.*22A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024567" "00000107" "00" "2200" "0" "2200" "0" "c.*22A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024567" "00000108" "00" "2155" "0" "2155" "0" "c.*22A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024567" "00000109" "00" "2122" "0" "2122" "0" "c.*22A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024567" "00000110" "00" "2161" "0" "2161" "0" "c.*22A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024567" "00000111" "00" "1786" "0" "1786" "0" "c.*22A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024568" "00000103" "00" "2521" "0" "2521" "0" "c.*271C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024568" "00000104" "00" "2488" "0" "2488" "0" "c.*271C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024568" "00000105" "00" "1873" "0" "1873" "0" "c.*271C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024568" "00000106" "00" "2482" "0" "2482" "0" "c.*271C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024568" "00000107" "00" "2449" "0" "2449" "0" "c.*271C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024568" "00000108" "00" "2404" "0" "2404" "0" "c.*271C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024568" "00000109" "00" "2371" "0" "2371" "0" "c.*271C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024568" "00000110" "00" "2410" "0" "2410" "0" "c.*271C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024568" "00000111" "00" "2035" "0" "2035" "0" "c.*271C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024569" "00000103" "00" "2643" "0" "2643" "0" "c.*393A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024569" "00000104" "00" "2610" "0" "2610" "0" "c.*393A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024569" "00000105" "00" "1995" "0" "1995" "0" "c.*393A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024569" "00000106" "00" "2604" "0" "2604" "0" "c.*393A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024569" "00000107" "00" "2571" "0" "2571" "0" "c.*393A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024569" "00000108" "00" "2526" "0" "2526" "0" "c.*393A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024569" "00000109" "00" "2493" "0" "2493" "0" "c.*393A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024569" "00000110" "00" "2532" "0" "2532" "0" "c.*393A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024569" "00000111" "00" "2157" "0" "2157" "0" "c.*393A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024570" "00000103" "00" "2850" "0" "2850" "0" "c.*600C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024570" "00000104" "00" "2817" "0" "2817" "0" "c.*600C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024570" "00000105" "00" "2202" "0" "2202" "0" "c.*600C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024570" "00000106" "00" "2811" "0" "2811" "0" "c.*600C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024570" "00000107" "00" "2778" "0" "2778" "0" "c.*600C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024570" "00000108" "00" "2733" "0" "2733" "0" "c.*600C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024570" "00000109" "00" "2700" "0" "2700" "0" "c.*600C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024570" "00000110" "00" "2739" "0" "2739" "0" "c.*600C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024570" "00000111" "00" "2364" "0" "2364" "0" "c.*600C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024571" "00000103" "00" "2994" "0" "2994" "0" "c.*744A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024571" "00000104" "00" "2961" "0" "2961" "0" "c.*744A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024571" "00000105" "00" "2346" "0" "2346" "0" "c.*744A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024571" "00000106" "00" "2955" "0" "2955" "0" "c.*744A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024571" "00000107" "00" "2922" "0" "2922" "0" "c.*744A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024571" "00000108" "00" "2877" "0" "2877" "0" "c.*744A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024571" "00000109" "00" "2844" "0" "2844" "0" "c.*744A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024571" "00000110" "00" "2883" "0" "2883" "0" "c.*744A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024571" "00000111" "00" "2508" "0" "2508" "0" "c.*744A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024572" "00000103" "00" "3343" "0" "3343" "0" "c.*1093T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024572" "00000104" "00" "3310" "0" "3310" "0" "c.*1093T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024572" "00000105" "00" "2695" "0" "2695" "0" "c.*1093T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024572" "00000106" "00" "3304" "0" "3304" "0" "c.*1093T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024572" "00000107" "00" "3271" "0" "3271" "0" "c.*1093T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024572" "00000108" 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