### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDH23) # 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}}" "CDH23" "cadherin-related 23" "10" "q22.1" "unknown" "NC_000010.10" "UD_130774228228" "" "" "" "1" "1" "13733" "64072" "605516" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:02:40" "" "" "00000" "2013-11-26 22:02:40" "" ## 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}}" "00003117" "CDH23" "transcript variant 1" "001" "NM_022124.5" "" "NP_071407.4" "" "" "" "-390" "10734" "10065" "73156691" "73575704" "00000" "2013-11-26 22:02:40" "" "" "" "10" ## 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}}" "00160" "500004" "RETINITIS PIGMENTOSA-DEAFNESS SYNDROME " "500004" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CDH23" "00160" ## 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 = 219 "{{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}}" "0000000205" "0" "55" "10" "73199633" "73199633" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-11-19 10:17:05" "CDH23_000024" "g.73199633del" "" "" "" "rs397517331" "del" "0" ";" "-1.990" "" "" "" "" "MSCV_0000205" "" "0000000206" "0" "55" "10" "73447428" "73447428" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 09:53:51" "CDH23_000025" "g.73447428del" "" "" "" "rs397517313" "del" "0" ";" "4.660" "" "" "" "" "MSCV_0000206" "" "0000000207" "0" "99" "10" "73485179" "73485179" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:09:11" "CDH23_000020" "g.73485179C>T" "" "{PMID:16679490:16679490}" "" "rs397517323" "subst" "0" "; clinvar;" "5.160" "" "" "" "" "MSCV_0000207" "" "0000000208" "0" "99" "10" "73490274" "73490274" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-03-13 23:01:58" "CDH23_000021" "g.73490274C>T" "" "" "" "rs397517326" "subst" "0" "; clinvar;" "4.320" "" "" "" "" "MSCV_0000208" "" "0000000209" "0" "99" "10" "73490352" "73490352" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 09:56:44" "CDH23_000022" "g.73490352C>T" "" "" "" "rs397517327" "subst" "0" "; clinvar;" "1.050" "" "" "" "" "MSCV_0000209" "" "0000000210" "0" "99" "10" "73498354" "73498354" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:10:09" "CDH23_000023" "g.73498354C>T" "" "{PMID:16679490:16679490}" "" "rs397517329" "subst" "0" "; clinvar;" "4.460" "" "" "" "" "MSCV_0000210" "" "0000000211" "0" "99" "10" "73539073" "73539073" "subst" "35" "0.000162206" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:54:38" "CDH23_000008" "g.73539073G>A" "" "{PMID:18273900:18273900};{PMID:11138009:11138009};{PMID:12075507:12075507};{PMID:21940737:21940737}" "" "rs111033270" "subst" "0" "; clinVar; Ensembl;" "4.880" "" "" "" "" "MSCV_0000211" "" "0000000212" "0" "99" "10" "73539108" "73539108" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-07-01 18:24:03" "CDH23_000009" "g.73539108C>T" "" "" "" "rs397517337" "subst" "0" "; clinvar;" "4.880" "" "" "" "" "MSCV_0000212" "" "0000000213" "0" "99" "10" "73544857" "73544857" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:54:42" "CDH23_000010" "g.73544857G>A" "" "{PMID:11857743:11857743};{PMID:21738395:21738395}" "" "rs397517342" "subst" "0" "; clinvar;" "4.410" "" "" "" "" "MSCV_0000213" "" "0000000214" "0" "99" "10" "73544858" "73544858" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-09-15 20:58:11" "CDH23_000011" "g.73544858G>A" "" "" "" "rs397517341" "subst" "0" "; clinvar;" "4.410" "" "" "" "" "MSCV_0000214" "" "0000000215" "0" "99" "10" "73548800" "73548800" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-01-06 02:58:02" "CDH23_000012" "g.73548800G>A" "" "" "" "rs397517346" "subst" "0" "; clinvar;" "4.380" "" "" "" "" "MSCV_0000215" "" "0000000216" "0" "77" "10" "73550170" "73550170" "subst" "35" "0.0000801925" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:54:48" "CDH23_000013" "g.73550170G>A" "" "{PMID:16679490:16679490};{PMID:18429043:18429043}" "" "rs183431253" "subst" "0" "; clinvar;" "5.060" "" "" "" "" "MSCV_0000216" "" "0000000217" "0" "99" "10" "73550171" "73550171" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:54:51" "CDH23_000014" "g.73550171G>A" "" "{PMID:11090341:11090341}" "" "rs111033247" "subst" "0" "; clinVar; Ensembl;" "5.060" "" "" "" "" "MSCV_0000217" "" "0000000218" "0" "99" "10" "73550880" "73550880" "subst" "35" "0.0000783822" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:54:53" "CDH23_000015" "g.73550880G>A" "" "{PMID:12075507:12075507};{PMID:18429043:18429043};{PMID:11857743:11857743};{PMID:20513143:20513143};{PMID:21569298:21569298};{PMID:21436283:21436283}" "" "rs367928692" "subst" "0" "; clinvar;" "-0.601" "" "" "" "" "MSCV_0000218" "" "0000000219" "0" "77" "10" "73553096" "73553096" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:54:55" "CDH23_000016" "g.73553096del" "" "" "" "rs111033473" "del" "0" "; clinVar; Ensembl;" "0.848" "" "" "" "" "MSCV_0000219" "" "0000000220" "0" "99" "10" "73553127" "73553127" "subst" "35" "0.000157928" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:54:57" "CDH23_000017" "g.73553127G>A" "" "{PMID:12075507:12075507};{PMID:12522556:12522556};{PMID:2706105:2706105};{PMID:15353998:15353998}" "" "rs111033271" "subst" "0" "; clinVar; Ensembl;" "5.320" "" "" "" "" "MSCV_0000220" "" "0000000221" "0" "55" "10" "73556914" "73556914" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:54:58" "CDH23_000018" "g.73556914del" "" "" "" "" "del" "0" ";" "5.870" "" "" "" "" "MSCV_0000221" "" "0000000222" "0" "55" "10" "73558247" "73558247" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:55:00" "CDH23_000019" "g.73558247del" "" "{PMID:12075507:12075507}" "" "rs397517350" "del" "0" ";" "2.170" "" "" "" "" "MSCV_0000222" "" "0000000223" "0" "77" "10" "73559386" "73559386" "subst" "35" "0.0000772798" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:22" "CDH23_000001" "g.73559386G>A" "" "{PMID:22135276:22135276}" "" "rs370983472" "subst" "0" "; clinvar;" "0.302" "" "" "" "" "MSCV_0000223" "" "0000000224" "0" "99" "10" "73563081" "73563081" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:23" "CDH23_000002" "g.73563081G>A" "" "" "" "rs397517353" "subst" "0" "; clinvar;" "5.020" "" "" "" "" "MSCV_0000224" "" "0000000225" "0" "77" "10" "73563128" "73563128" "subst" "35" "0.000639795" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-09-11 14:50:17" "CDH23_000003" "g.73563128G>A" "" "{PMID:12075507:12075507};{PMID:16963483:16963483};{PMID:19683999:19683999}" "" "rs202052174" "subst" "0" "; clinvar;" "4.500" "" "" "" "" "MSCV_0000225" "" "0000000226" "0" "77" "10" "73565611" "73565611" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:27" "CDH23_000004" "g.73565611G>C" "" "" "" "rs397517354" "subst" "0" "; clinvar;" "5.020" "" "" "" "" "MSCV_0000226" "" "0000000227" "0" "99" "10" "73569635" "73569635" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:29" "CDH23_000005" "g.73569635C>A" "" "" "" "rs397517362" "subst" "0" "; clinvar;" "3.380" "" "" "" "" "MSCV_0000227" "" "0000000228" "0" "99" "10" "73572643" "73572646" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:31" "CDH23_000006" "g.73572643_73572646del" "" "" "" "rs397517367" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000228" "" "0000000229" "0" "55" "10" "73575396" "73575396" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:33" "CDH23_000007" "g.73575396C>T" "" "" "" "" "subst" "0" ";" "-5.000" "" "" "" "" "MSCV_0000229" "" "0000016046" "0" "55" "10" "73156728" "73156728" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:58:44" "CDH23_000222" "g.73156728C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016046" "" "0000016047" "0" "55" "10" "73156735" "73156735" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-03-17 19:23:54" "CDH23_000216" "g.73156735G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016047" "" "0000016048" "0" "55" "10" "73156805" "73156805" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:55:26" "CDH23_000217" "g.73156805G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016048" "" "0000016049" "0" "55" "10" "73156823" "73156823" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:54:59" "CDH23_000218" "g.73156823G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016049" "" "0000016050" "0" "00" "10" "73156881" "73156882" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:00:03" "CDH23_000219" "g.73156881_73156882insGCGAGCG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016050" "" "0000016051" "0" "00" "10" "73156882" "73156888" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:08:21" "CDH23_000203" "g.73156882_73156888del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016051" "" "0000016052" "0" "55" "10" "73156896" "73156896" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:07:07" "CDH23_000204" "g.73156896G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016052" "" "0000016053" "0" "55" "10" "73156913" "73156913" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:57:32" "CDH23_000205" "g.73156913C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016053" "" "0000016054" "0" "00" "10" "73157033" "73157034" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:54:23" "CDH23_000206" "g.73157033_73157034insCGAGG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016054" "" "0000016055" "0" "00" "10" "73157034" "73157038" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:09:29" "CDH23_000207" "g.73157034_73157038del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016055" "" "0000016056" "0" "55" "10" "73157043" "73157043" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:57:18" "CDH23_000208" "g.73157043G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016056" "" "0000016057" "0" "77" "10" "73157066" "73157066" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:56:30" "CDH23_000209" "g.73157066C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016057" "" "0000016058" "0" "33" "10" "73199588" "73199588" "subst" "51" "0.0815815" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-18 06:09:02" "CDH23_000210" "g.73199588C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016058" "" "0000016059" "0" "33" "10" "73199595" "73199595" "subst" "35" "0.123389" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:01:42" "CDH23_000211" "g.73199595C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016059" "" "0000016060" "0" "33" "10" "73199667" "73199667" "subst" "35" "0.0491293" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:02:29" "CDH23_000188" "g.73199667C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016060" "" "0000016061" "0" "77" "10" "73269891" "73269891" "subst" "35" "0.0016239" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:54:53" "CDH23_000189" "g.73269891G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016061" "" "0000016062" "0" "77" "10" "73269897" "73269897" "subst" "35" "0.0128975" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:02:24" "CDH23_000190" "g.73269897C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016062" "" "0000016063" "0" "55" "10" "73270743" "73270743" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:01:10" "CDH23_000191" "g.73270743C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016063" "" "0000016064" "0" "33" "10" "73270906" "73270906" "subst" "51" "0.749597" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-18 06:09:03" "CDH23_000192" "g.73270906T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016064" "" "0000016065" "0" "55" "10" "73270907" "73270907" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:08:14" "CDH23_000193" "g.73270907G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016065" "" "0000016066" "0" "55" "10" "73270926" "73270926" "subst" "35" "0.0000808669" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:53:46" "CDH23_000194" "g.73270926C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016066" "" "0000016067" "0" "33" "10" "73270982" "73270982" "subst" "35" "0.739648" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:27:31" "CDH23_000195" "g.73270982G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016067" "" "0000016068" "0" "55" "10" "73326515" "73326515" "subst" "35" "0.0000796686" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:27:27" "CDH23_000221" "g.73326515C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016068" "" "0000016069" "0" "77" "10" "73326643" "73326643" "subst" "35" "0.000160102" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:27:49" "CDH23_000220" "g.73326643G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016069" "" "0000016070" "0" "55" "10" "73326657" "73326657" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:56:05" "CDH23_000214" "g.73326657G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016070" "" "0000016071" "0" "55" "10" "73375264" "73375264" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:59:54" "CDH23_000199" "g.73375264A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016071" "" "0000016072" "0" "55" "10" "73376976" "73376976" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:52:05" "CDH23_000200" "g.73376976C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016072" "" "0000016073" "0" "33" "10" "73377069" "73377069" "subst" "35" "0.0755751" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:08:04" "CDH23_000201" "g.73377069C>T" "" "" "" "" "" "0" "; 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clinvar;" "" "" "" "" "" "MSCV_0000220" "" "0000016184" "0" "77" "10" "73553390" "73553390" "subst" "35" "0.00183882" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:25" "CDH23_000147" "g.73553390C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016184" "" "0000016185" "0" "77" "10" "73556853" "73556853" "subst" "35" "0.00181309" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:28" "CDH23_000148" "g.73556853G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016185" "" "0000016186" "0" "33" "10" "73558128" "73558128" "subst" "35" "0.0339578" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:30" "CDH23_000149" "g.73558128G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016186" "" "0000016187" "0" "55" "10" "73558192" "73558192" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:33" "CDH23_000150" "g.73558192G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016187" "" "0000016188" "0" "33" "10" "73558886" "73558886" "subst" "35" "0.262008" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:35" "CDH23_000151" "g.73558886G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016188" "" "0000016189" "0" "55" "10" "73558904" "73558904" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:31:15" "CDH23_000215" "g.73558904A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016189" "" "0000016190" "0" "33" "10" "73558952" "73558952" "subst" "35" "0.254335" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:14" "CDH23_000212" "g.73558952C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016190" "" "0000016191" "0" "55" "10" "73559400" "73559400" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:16" "CDH23_000213" "g.73559400G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016191" "" "0000016192" "0" "77" "10" "73560497" "73560497" "subst" "35" "0.012856" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:33" "CDH23_000080" "g.73560497C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016192" "" "0000016193" "0" "55" "10" "73560524" "73560524" "subst" "35" "0.0000812216" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:35" "CDH23_000081" "g.73560524C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016193" "" "0000016194" "0" "55" "10" "73562723" "73562723" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:37" "CDH23_000082" "g.73562723C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016194" "" "0000016195" "0" "55" "10" "73562724" "73562724" "subst" "35" "0.00008036" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:39" "CDH23_000083" "g.73562724G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016195" "" "0000016196" "0" "33" "10" "73562744" "73562744" "subst" "35" "0.24883" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:45" "CDH23_000084" "g.73562744G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016196" "" "0000016197" "0" "55" "10" "73562957" "73562957" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:47" "CDH23_000085" "g.73562957C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016197" "" "0000016198" "0" "55" "10" "73563025" "73563025" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:49" "CDH23_000086" "g.73563025T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016198" "" "0000016199" "0" "77" "10" "73563027" "73563027" "subst" "35" "0.00295716" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:55:48" "CDH23_000055" "g.73563027C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016199" "" "0000016200" "0" "55" "10" "73565689" "73565689" "subst" "35" "0.00008088" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:55:49" "CDH23_000056" "g.73565689G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016200" "" "0000016201" "0" "55" "10" "73565699" "73565699" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:55:52" "CDH23_000057" "g.73565699G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016201" "" "0000016202" "0" "55" "10" "73567270" "73567270" "subst" "35" "0.00031837" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:55:54" "CDH23_000058" "g.73567270C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016202" "" "0000016203" "0" "55" "10" "73567497" "73567497" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:55:56" "CDH23_000059" "g.73567497C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016203" "" "0000016204" "0" "55" "10" "73567686" "73567686" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:55:58" "CDH23_000060" "g.73567686T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016204" "" "0000016205" "0" "55" "10" "73569597" "73569597" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:00" "CDH23_000061" "g.73569597C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016205" "" "0000016206" "0" "77" "10" "73569629" "73569629" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:02" "CDH23_000062" "g.73569629C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016206" "" "0000016207" "0" "55" "10" "73569678" "73569678" "subst" "35" "0.000235997" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:04" "CDH23_000063" "g.73569678G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016207" "" "0000016208" "0" "55" "10" "73569732" "73569732" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:06" "CDH23_000064" "g.73569732G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016208" "" "0000016209" "0" "33" "10" "73569749" "73569749" "subst" "35" "0.115998" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:08" "CDH23_000065" "g.73569749C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016209" "" "0000016210" "0" "55" "10" "73569753" "73569753" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:10" "CDH23_000066" "g.73569753C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016210" "" "0000016211" "0" "55" "10" "73569785" "73569785" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:12" "CDH23_000067" "g.73569785C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016211" "" "0000016212" "0" "55" "10" "73569846" "73569846" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:14" "CDH23_000068" "g.73569846C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016212" "" "0000016213" "0" "77" "10" "73570217" "73570217" "subst" "35" "0.000819403" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:16" "CDH23_000069" "g.73570217C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016213" "" "0000016214" "0" "55" "10" "73570263" "73570263" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:18" "CDH23_000070" "g.73570263C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016214" "" "0000016215" "0" "77" "10" "73570264" "73570264" "subst" "35" "0.00391875" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:20" "CDH23_000071" "g.73570264G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016215" "" "0000016216" "0" "33" "10" "73570334" "73570334" "subst" "35" "0.148329" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:22" "CDH23_000072" "g.73570334G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016216" "" "0000016217" "0" "55" "10" "73571102" "73571102" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:24" "CDH23_000073" "g.73571102G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016217" "" "0000016218" "0" "77" "10" "73571205" "73571205" "subst" "35" "0.0000789141" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:26" "CDH23_000074" "g.73571205C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016218" "" "0000016219" "0" "33" "10" "73571521" "73571521" "subst" "35" "0.110875" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:28" "CDH23_000075" "g.73571521G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016219" "" "0000016220" "0" "55" "10" "73571718" "73571718" "subst" "35" "0.00024426" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:30" "CDH23_000076" "g.73571718G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016220" "" "0000016221" "0" "33" "10" "73571765" "73571765" "subst" "35" "0.0255177" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:32" "CDH23_000077" "g.73571765T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016221" "" "0000016222" "0" "55" "10" "73572630" "73572630" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:34" "CDH23_000078" "g.73572630C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016222" "" "0000016223" "0" "77" "10" "73572643" "73572643" "subst" "35" "0.000239158" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:56:36" "CDH23_000079" "g.73572643T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016223" "" "0000016224" "0" "55" "10" "73573037" "73573037" "subst" "35" "0.000308135" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:51" "CDH23_000087" "g.73573037C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016224" "" "0000016225" "0" "33" "10" "73574843" "73574843" "subst" "35" "0.0693271" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:53" "CDH23_000088" "g.73574843G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016225" "" "0000016226" "0" "55" "10" "73574980" "73574980" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:55" "CDH23_000089" "g.73574980T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016226" "" "0000016227" "0" "55" "10" "73575012" "73575012" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:57" "CDH23_000090" "g.73575012C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016227" "" "0000016228" "0" "55" "10" "73575036" "73575036" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:58" "CDH23_000091" "g.73575036C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016228" "" "0000016229" "0" "55" "10" "73575118" "73575118" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:00" "CDH23_000092" "g.73575118G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016229" "" "0000016230" "0" "55" "10" "73575120" "73575120" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:03" "CDH23_000093" "g.73575120G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016230" "" "0000016231" "0" "77" "10" "73575139" "73575139" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:05" "CDH23_000094" "g.73575139G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016231" "" "0000016232" "0" "00" "10" "73575150" "73575151" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:07" "CDH23_000095" "g.73575150_73575151insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016232" "" "0000016233" "0" "33" "10" "73575239" "73575239" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:12" "CDH23_000096" "g.73575239A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016233" "" "0000016234" "0" "33" "10" "73575384" "73575384" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:13" "CDH23_000097" "g.73575384A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016234" "" "0000016235" "0" "77" "10" "73575396" "73575396" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:16" "CDH23_000098" "g.73575396C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016235" "" "0000016236" "0" "77" "10" "73575469" "73575469" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:17" "CDH23_000099" "g.73575469G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016236" "" "0000016237" "0" "33" "10" "73575545" "73575545" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:19" "CDH23_000100" "g.73575545G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016237" "" "0000016238" "0" "77" "10" "73575550" "73575550" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:21" "CDH23_000101" "g.73575550C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016238" "" "0000016239" "0" "55" "10" "73575647" "73575647" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:23" "CDH23_000102" "g.73575647G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016239" "" ## 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 = 219 "{{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}}" "0000000205" "00003117" "55" "45" "0" "45" "0" "c.45del" "" "p.(Val16Cysfs*2)" "r.(?)" "" "" "" "" "" "-" "0000000206" "00003117" "55" "2011" "0" "2011" "0" "c.2011del" "" "p.(Phe671Serfs*23)" "r.(?)" "" "" "" "" "" "-" "0000000207" "00003117" "99" "3481" "0" "3481" "0" "c.3481C>T" "30/70" "p.(Arg1161*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000208" "00003117" "99" "3628" "0" "3628" "0" "c.3628C>T" "31/70" "p.(Gln1210*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000209" "00003117" "99" "3706" "0" "3706" "0" "c.3706C>T" "31/70" "p.(Arg1236*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000210" "00003117" "99" "4309" "0" "4309" "0" "c.4309C>T" "35/70" "p.(Arg1437*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000211" "00003117" "99" "5237" "0" "5237" "0" "c.5237G>A" "41/70" "p.(Arg1746Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000212" "00003117" "99" "5272" "0" "5272" "0" "c.5272C>T" "41/70" "p.(Gln1758*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000213" "00003117" "99" "5712" "0" "5712" "0" "c.5712G>A" "43/70" "p.(=)" "r.(=)" "-" "" "splice_region_variant,synonymous_variant" "" "" "-" "0000000214" "00003117" "99" "5712" "1" "5712" "1" "c.5712+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000215" "00003117" "99" "5923" "1" "5923" "1" "c.5923+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000216" "00003117" "77" "6049" "0" "6049" "0" "c.6049G>A" "46/70" "p.(Gly2017Ser)" "r.(?)" "-" "" "missense_variant,splice_region_variant" "" "" "-" "0000000217" "00003117" "99" "6049" "1" "6049" "1" "c.6049+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000218" "00003117" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000219" "00003117" "77" "6411" "0" "6411" "0" "c.6411del" "" "p.(Glu2138Serfs*5)" "r.(?)" "" "" "" "" "" "-" "0000000220" "00003117" "99" "6442" "0" "6442" "0" "c.6442G>A" "48/70" "p.(Asp2148Asn)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000221" "00003117" "55" "6766" "0" "6766" "0" "c.6766del" "" "p.(Val2256Serfs*5)" "r.(?)" "" "" "" "" "" "-" "0000000222" "00003117" "55" "6966" "0" "6966" "0" "c.6966del" "" "p.(Pro2323Leufs*50)" "r.(?)" "" "" "" "" "" "-" "0000000223" "00003117" "77" "7362" "0" "7362" "0" "c.7362G>A" "52/70" "p.(=)" "r.(=)" "-" "" "splice_region_variant,synonymous_variant" "" "" "-" "0000000224" "00003117" "99" "7776" "0" "7776" "0" "c.7776G>A" "55/70" "p.(Trp2592*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000225" "00003117" "77" "7823" "0" "7823" "0" "c.7823G>A" "55/70" "p.(Arg2608His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000226" "00003117" "77" "7921" "0" "7921" "0" "c.7921G>C" "56/70" "p.(Asp2641His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000227" "00003117" "99" "8781" "0" "8781" "0" "c.8781C>A" "61/70" "p.(Tyr2927*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000228" "00003117" "99" "9629" "0" "9632" "0" "c.9629_9632del" "" "p.(Ile3210Argfs*5)" "r.(?)" "" "" "" "" "" "-" "0000000229" "00003117" "55" "10426" "0" "10426" "0" "c.*361C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016046" "00003117" "00" "-353" "0" "-353" "0" "c.-353C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016047" "00003117" "00" "-346" "0" "-346" "0" "c.-346G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016048" "00003117" "00" "-276" "0" "-276" "0" "c.-276G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016049" "00003117" "00" "-258" "0" "-258" "0" "c.-258G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016050" "00003117" "00" "-200" "0" "-199" "0" "c.-200_-199insGCGAGCG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016051" "00003117" "00" "-199" "0" "-193" "0" "c.-199_-193del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016052" "00003117" "00" "-185" "0" "-185" "0" "c.-185G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016053" "00003117" "00" "-168" "0" "-168" "0" "c.-168C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016054" "00003117" "00" "-48" "0" "-47" "0" "c.-48_-47insCGAGG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016055" "00003117" "00" "-47" "0" "-43" "0" "c.-47_-43del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016056" "00003117" "00" "-38" "0" "-38" "0" "c.-38G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016057" "00003117" "00" "-15" "0" "-15" "0" "c.-15C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016058" "00003117" "00" "-1" "0" "-1" "0" "c.-1C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016059" "00003117" "00" "7" "0" "7" "0" "c.7C>T" "" "p.(Arg3Cys)" "r.(?)" "" "" "" "" "" "-" "0000016060" "00003117" "00" "67" "12" "67" "12" "c.67+12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016061" "00003117" "00" "198" "0" "198" "0" "c.198G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016062" "00003117" "00" "204" "0" "204" "0" "c.204C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016063" "00003117" "00" "321" "0" "321" "0" "c.321C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016064" "00003117" "00" "366" "0" "366" "0" "c.366T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016065" "00003117" "00" "367" "0" "367" "0" "c.367G>C" "" "p.(Gly123Arg)" "r.(?)" "" "" "" "" "" "-" "0000016066" "00003117" "00" "386" "0" "386" "0" "c.386C>T" "" "p.(Ala129Val)" "r.(?)" "" "" "" "" "" "-" "0000016067" "00003117" "00" "429" "13" "429" "13" "c.429+13G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016068" "00003117" "00" "446" "0" "446" "0" "c.446C>T" "" "p.(Thr149Met)" "r.(?)" "" "" "" "" "" "-" "0000016069" "00003117" "00" "574" "0" "574" "0" "c.574G>C" "" "p.(Glu192Gln)" "r.(?)" "" "" "" "" "" "-" "0000016070" "00003117" "00" "588" "0" "588" "0" "c.588G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016071" "00003117" "00" "836" "0" "836" "0" "c.836A>G" "" "p.(Asn279Ser)" "r.(?)" "" "" "" "" "" "-" "0000016072" "00003117" "00" "960" "0" "960" "0" "c.960C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016073" "00003117" "00" "1053" "0" "1053" "0" "c.1053C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016074" "00003117" "00" "1062" "0" "1062" "0" "c.1062C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016075" "00003117" "00" "1078" "0" "1078" "0" "c.1078C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016076" "00003117" "00" "1134" "13" "1134" "13" "c.1134+13A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016077" "00003117" "00" "1168" "0" "1168" "0" "c.1168T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016078" "00003117" "00" "1307" "0" "1307" "0" "c.1307G>A" "" "p.(Ser436Asn)" "r.(?)" "" "" "" "" "" "-" "0000016079" "00003117" "00" "1469" "0" "1469" "0" "c.1469G>C" "" "p.(Gly490Ala)" "r.(?)" "" "" "" "" "" "-" "0000016080" "00003117" "00" "1487" "0" "1487" "0" "c.1487G>A" "" "p.(Ser496Asn)" "r.(?)" "" "" "" "" "" "-" "0000016081" "00003117" "00" "1584" "0" "1584" "0" "c.1584C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016082" "00003117" "00" "1595" "0" "1595" "0" "c.1595C>T" "" "p.(Thr532Met)" "r.(?)" "" "" "" "" "" "-" "0000016083" "00003117" "00" "1607" "0" "1607" "0" "c.1607G>A" "" "p.(Arg536Gln)" "r.(?)" "" "" "" "" "" "-" "0000016084" "00003117" "00" "1621" "0" "1621" "0" "c.1621G>A" "" "p.(Glu541Lys)" "r.(?)" "" "" "" "" "" "-" "0000016085" "00003117" "00" "1665" "0" "1665" "0" "c.1665C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016086" "00003117" "00" "1719" "0" "1719" "0" "c.1719C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016087" "00003117" "00" "1751" "0" "1751" "0" "c.1751G>A" "" "p.(Arg584Gln)" "r.(?)" "" "" "" "" "" "-" "0000016088" "00003117" "00" "1778" "0" "1778" "0" "c.1778A>C" "" "p.(Asn593Thr)" "r.(?)" "" "" "" "" "" "-" "0000016089" "00003117" "00" "1803" "0" "1803" "0" "c.1803C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016090" "00003117" "00" "1814" "0" "1814" "0" "c.1814C>T" "" "p.(Ala605Val)" "r.(?)" "" "" "" "" "" "-" "0000016091" "00003117" "00" "1858" "6" "1858" "6" "c.1858+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016092" "00003117" "00" "1963" "0" "1963" "0" "c.1963G>A" "" "p.(Val655Ile)" "r.(?)" "" "" "" "" "" "-" "0000016093" "00003117" "00" "2112" "0" "2112" "0" "c.2112C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016094" "00003117" "00" "2176" "12" "2176" "12" "c.2176+12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016095" "00003117" "00" "2235" "0" "2235" "0" "c.2235C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016096" "00003117" "00" "2239" "0" "2239" "0" "c.2239C>T" "" "p.(Arg747Cys)" "r.(?)" "" "" "" "" "" "-" "0000016097" "00003117" "00" "2290" "-14" "2290" "-14" "c.2290-14del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016098" "00003117" "00" "2310" "0" "2310" "0" "c.2310C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016099" "00003117" "00" "2316" "0" "2316" "0" "c.2316T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016100" "00003117" "00" "2337" "0" "2337" "0" "c.2337G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016101" "00003117" "00" "2353" "0" "2353" "0" "c.2353A>C" "" "p.(Ile785Leu)" "r.(?)" "" "" "" "" "" "-" "0000016102" "00003117" "00" "2388" "0" "2388" "0" "c.2388T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016103" "00003117" "00" "2424" "0" "2424" "0" "c.2424G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016104" "00003117" "00" "2524" "0" "2524" "0" "c.2524C>T" "" "p.(Arg842Trp)" "r.(?)" "" "" "" "" "" "-" "0000016105" "00003117" "00" "2568" "0" "2568" "0" "c.2568C>G" "" "p.(Ile856Met)" "r.(?)" "" "" "" "" "" "-" "0000016106" "00003117" "00" "2572" "0" "2572" "0" "c.2572G>A" "" "p.(Val858Ile)" "r.(?)" "" "" "" "" "" "-" "0000016107" "00003117" "00" "2711" "0" "2711" "0" "c.2711C>T" "" "p.(Pro904Leu)" "r.(?)" "" "" "" "" "" "-" "0000016108" "00003117" "00" "2794" "0" "2794" "0" "c.2794G>A" "" "p.(Gly932Ser)" "r.(?)" "" "" "" "" "" "-" "0000016109" "00003117" "00" "2869" "0" "2869" "0" "c.2869C>T" "" "p.(Arg957Cys)" "r.(?)" "" "" "" "" "" "-" "0000016110" "00003117" "00" "2915" "0" "2915" "0" "c.2915C>T" "" "p.(Thr972Met)" "r.(?)" "" "" "" "" "" "-" "0000016111" "00003117" "00" "2953" "10" "2953" "10" "c.2953+10C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016112" "00003117" "00" "2954" "-14" "2954" "-14" "c.2954-14G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016113" "00003117" "00" "2970" "0" "2970" "0" "c.2970C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016114" "00003117" "00" "3009" "0" "3009" "0" "c.3009T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016115" "00003117" "00" "3022" "0" "3022" "0" "c.3022G>A" "" "p.(Val1008Met)" "r.(?)" "" "" "" "" "" "-" "0000016116" "00003117" "00" "3109" "0" "3109" "0" "c.3109G>A" "" "p.(Gly1037Ser)" "r.(?)" "" "" "" "" "" "-" "0000016117" "00003117" "00" "3118" "0" "3118" "0" "c.3118G>T" "" "p.(Asp1040Tyr)" "r.(?)" "" "" "" "" "" "-" "0000016118" "00003117" "00" "3186" "0" "3186" "0" "c.3186C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016119" "00003117" "00" "3213" "0" "3213" "0" "c.3213G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016120" "00003117" "00" "3249" "0" "3249" "0" "c.3249G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016121" "00003117" "00" "3262" "0" "3262" "0" "c.3262G>A" "" "p.(Val1088Met)" "r.(?)" "" "" "" "" "" "-" "0000016122" "00003117" "00" "3301" "0" "3301" "0" "c.3301A>G" "" "p.(Ile1101Val)" "r.(?)" "" "" "" "" "" "-" "0000016123" "00003117" "00" "3331" "0" "3331" "0" "c.3331G>A" "" "p.(Val1111Ile)" "r.(?)" "" "" "" "" "" "-" "0000016124" "00003117" "00" "3369" "12" "3369" "12" "c.3369+12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016125" "00003117" "00" "3580" "-13" "3580" "-13" "c.3580-13C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016126" "00003117" "00" "3580" "-12" "3580" "-12" "c.3580-12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016127" "00003117" "00" "3613" "0" "3613" "0" "c.3613G>T" "" "p.(Ala1205Ser)" "r.(?)" "" "" "" "" "" "-" "0000016128" "00003117" "00" "3614" "0" "3614" "0" "c.3614C>T" "" "p.(Ala1205Val)" "r.(?)" "" "" "" "" "" "-" "0000016129" "00003117" "00" "3739" "0" "3739" "0" "c.3739C>T" "" "p.(Arg1247Cys)" "r.(?)" "" "" "" "" "" "-" "0000016130" "00003117" "00" "3915" "0" "3915" "0" "c.3915C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016131" "00003117" "00" "4005" "0" "4005" "0" "c.4005C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016132" "00003117" "00" "4051" "0" "4051" "0" "c.4051A>G" "" "p.(Asn1351Asp)" "r.(?)" "" "" "" "" "" "-" "0000016133" "00003117" "00" "4068" "0" "4068" "0" "c.4068C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016134" "00003117" "00" "4103" "0" "4103" "0" "c.4103C>T" "" "p.(Thr1368Met)" "r.(?)" "" "" "" "" "" "-" "0000016135" "00003117" "00" "4147" "0" "4147" "0" "c.4147G>A" "" "p.(Asp1383Asn)" "r.(?)" "" "" "" "" "" "-" "0000016136" "00003117" "00" "4179" "0" "4179" "0" "c.4179C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016137" "00003117" "00" "4210" "-7" "4210" "-7" "c.4210-7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016138" "00003117" "00" "4299" "0" "4299" "0" "c.4299T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016139" "00003117" "00" "4341" "0" "4341" "0" "c.4341T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016140" "00003117" "00" "4346" "0" "4346" "0" "c.4346G>A" "" "p.(Gly1449Asp)" "r.(?)" "" "" "" "" "" "-" "0000016141" "00003117" "00" "4390" "0" "4390" "0" "c.4390G>A" "" "p.(Ala1464Thr)" "r.(?)" "" "" "" "" "" "-" "0000016142" "00003117" "00" "4451" "0" "4451" "0" "c.4451C>T" "" "p.(Pro1484Leu)" "r.(?)" "" "" "" "" "" "-" "0000016143" "00003117" "00" "4509" "0" "4509" "0" "c.4509C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016144" "00003117" "00" "4589" "0" "4589" "0" "c.4589C>T" "" "p.(Pro1530Leu)" "r.(?)" "" "" "" "" "" "-" "0000016145" "00003117" "00" "4723" "0" "4723" "0" "c.4723G>A" "" "p.(Ala1575Thr)" "r.(?)" "" "" "" "" "" "-" "0000016146" "00003117" "00" "4780" "0" "4780" "0" "c.4780C>T" "" "p.(Arg1594Cys)" "r.(?)" "" "" "" "" "" "-" "0000016147" "00003117" "00" "4795" "0" "4795" "0" "c.4795T>C" "" "p.(Phe1599Leu)" "r.(?)" "" "" "" "" "" "-" "0000016148" "00003117" "00" "4857" "0" "4857" "0" "c.4857C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016149" "00003117" "00" "4892" "0" "4892" "0" "c.4892C>T" "" "p.(Ala1631Val)" "r.(?)" "" "" "" "" "" "-" "0000016150" "00003117" "00" "4913" "0" "4913" "0" "c.4913A>C" "" "p.(His1638Pro)" "r.(?)" "" "" "" "" "" "-" "0000016151" "00003117" "00" "4984" "0" "4984" "0" "c.4984C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016152" "00003117" "00" "5023" "0" "5023" "0" "c.5023G>A" "" "p.(Val1675Ile)" "r.(?)" "" "" "" "" "" "-" "0000016153" "00003117" "00" "5026" "0" "5026" "0" "c.5026G>A" "" "p.(Ala1676Thr)" "r.(?)" "" "" "" "" "" "-" "0000016154" "00003117" "00" "5037" "0" "5037" "0" "c.5037C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016155" "00003117" "00" "5050" "0" "5050" "0" "c.5050C>T" "" "p.(Arg1684Cys)" "r.(?)" "" "" "" "" "" "-" "0000016156" "00003117" "00" "5066" "0" "5066" "0" "c.5066T>C" "" "p.(Met1689Thr)" "r.(?)" "" "" "" "" "" "-" "0000016157" "00003117" "00" "5067" "15" "5067" "15" "c.5067+15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016158" "00003117" "00" "5100" "0" "5100" "0" "c.5100C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016159" "00003117" "00" "5228" "0" "5228" "0" "c.5228C>A" "" "p.(Thr1743Asn)" "r.(?)" "" "" "" "" "" "-" "0000016160" "00003117" "00" "5248" "0" "5248" "0" "c.5248G>A" "" "p.(Gly1750Arg)" "r.(?)" "" "" "" "" "" "-" "0000016161" "00003117" "00" "5257" "0" "5257" "0" "c.5257G>A" "" "p.(Glu1753Lys)" "r.(?)" "" "" "" "" "" "-" "0000016162" "00003117" "00" "5297" "0" "5297" "0" "c.5297T>C" "" "p.(Phe1766Ser)" "r.(?)" "" "" "" "" "" "-" "0000016163" "00003117" "00" "5328" "0" "5328" "0" "c.5328C>A" "" "p.(Asn1776Lys)" "r.(?)" "" "" "" "" "" "-" "0000016164" "00003117" "00" "5411" "0" "5411" "0" "c.5411G>A" "" "p.(Arg1804Gln)" "r.(?)" "" "" "" "" "" "-" "0000016165" "00003117" "00" "5442" "0" "5442" "0" "c.5442C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016166" "00003117" "00" "5503" "-10" "5503" "-10" "c.5503-10A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016167" "00003117" "00" "5542" "0" "5542" "0" "c.5542G>A" "" "p.(Asp1848Asn)" "r.(?)" "" "" "" "" "" "-" "0000016168" "00003117" "00" "5544" "0" "5544" "0" "c.5544C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016169" "00003117" "00" "5647" "0" "5647" "0" "c.5647A>C" "" "p.(Asn1883His)" "r.(?)" "" "" "" "" "" "-" "0000016170" "00003117" "00" "5711" "0" "5711" "0" "c.5711C>T" "" "p.(Thr1904Met)" "r.(?)" "" "" "" "" "" "-" "0000016171" "00003117" "00" "5727" "0" "5727" "0" "c.5727T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016172" "00003117" "00" "5753" "0" "5753" "0" "c.5753G>A" "" "p.(Arg1918Gln)" "r.(?)" "" "" "" "" "" "-" "0000016173" "00003117" "00" "5821" "-13" "5821" "-13" "c.5821-13C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016174" "00003117" "00" "5865" "0" "5865" "0" "c.5865C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016175" "00003117" "00" "5931" "0" "5931" "0" "c.5931T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016176" "00003117" "00" "5996" "0" "5996" "0" "c.5996C>G" "" "p.(Thr1999Ser)" "r.(?)" "" "" "" "" "" "-" "0000016177" "00003117" "00" "6004" "0" "6004" "0" "c.6004C>G" "" "p.(Leu2002Val)" "r.(?)" "" "" "" "" "" "-" "0000016178" "00003117" "00" "6130" "0" "6130" "0" "c.6130G>A" "" "p.(Glu2044Lys)" "r.(?)" "" "" "" "" "" "-" "0000016179" "00003117" "00" "6138" "0" "6138" "0" "c.6138C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016180" "00003117" "00" "6376" "0" "6376" "0" "c.6376C>T" "" "p.(Arg2126Cys)" "r.(?)" "" "" "" "" "" "-" "0000016181" "00003117" "00" "6421" "0" "6421" "0" "c.6421A>G" "" "p.(Arg2141Gly)" "r.(?)" "" "" "" "" "" "-" "0000016182" "00003117" "00" "6429" "0" "6429" "0" "c.6429G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016183" "00003117" "00" "6442" "0" "6442" "0" "c.6442G>A" "" "p.(Asp2148Asn)" "r.(?)" "" "" "" "" "" "-" "0000016184" "00003117" "00" "6705" "0" "6705" "0" "c.6705C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016185" "00003117" "00" "6713" "-8" "6713" "-8" "c.6713-8G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016186" "00003117" "00" "6847" "0" "6847" "0" "c.6847G>A" "" "p.(Val2283Ile)" "r.(?)" "" "" "" "" "" "-" "0000016187" "00003117" "00" "6911" "0" "6911" "0" "c.6911G>A" "" "p.(Arg2304Gln)" "r.(?)" "" "" "" "" "" "-" "0000016188" "00003117" "00" "7073" "0" "7073" "0" "c.7073G>A" "" "p.(Arg2358Gln)" "r.(?)" "" "" "" "" "" "-" "0000016189" "00003117" "00" "7091" "0" "7091" "0" "c.7091A>G" "" "p.(Glu2364Gly)" "r.(?)" "" "" "" "" "" "-" "0000016190" "00003117" "00" "7139" "0" "7139" "0" "c.7139C>T" "" "p.(Pro2380Leu)" "r.(?)" "" "" "" "" "" "-" "0000016191" "00003117" "00" "7362" "14" "7362" "14" "c.7362+14G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016192" "00003117" "00" "7467" "0" "7467" "0" "c.7467C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016193" "00003117" "00" "7482" "12" "7482" "12" "c.7482+12C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016194" "00003117" "00" "7551" "0" "7551" "0" "c.7551C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016195" "00003117" "00" "7552" "0" "7552" "0" "c.7552G>A" "" "p.(Val2518Met)" "r.(?)" "" "" "" "" "" "-" "0000016196" "00003117" "00" "7572" "0" "7572" "0" "c.7572G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016197" "00003117" "00" "7661" "-9" "7661" "-9" "c.7661-9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016198" "00003117" "00" "7720" "0" "7720" "0" "c.7720T>C" "" "p.(Tyr2574His)" "r.(?)" "" "" "" "" "" "-" "0000016199" "00003117" "00" "7722" "0" "7722" "0" "c.7722C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016200" "00003117" "00" "7999" "0" "7999" "0" "c.7999G>C" "" "p.(Asp2667His)" "r.(?)" "" "" "" "" "" "-" "0000016201" "00003117" "00" "8009" "0" "8009" "0" "c.8009G>A" "" "p.(Ser2670Asn)" "r.(?)" "" "" "" "" "" "-" "0000016202" "00003117" "00" "8309" "-3" "8309" "-3" "c.8309-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016203" "00003117" "00" "8533" "0" "8533" "0" "c.8533C>T" "" "p.(Arg2845Cys)" "r.(?)" "" "" "" "" "" "-" "0000016204" "00003117" "00" "8644" "0" "8644" "0" "c.8644T>C" "" "p.(Phe2882Leu)" "r.(?)" "" "" "" "" "" "-" "0000016205" "00003117" "00" "8743" "0" "8743" "0" "c.8743C>T" "" "p.(Arg2915Cys)" "r.(?)" "" "" "" "" "" "-" "0000016206" "00003117" "00" "8775" "0" "8775" "0" "c.8775C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016207" "00003117" "00" "8824" "0" "8824" "0" "c.8824G>A" "" "p.(Asp2942Asn)" "r.(?)" "" "" "" "" "" "-" "0000016208" "00003117" "00" "8878" "0" "8878" "0" "c.8878G>A" "" "p.(Val2960Ile)" "r.(?)" "" "" "" "" "" "-" "0000016209" "00003117" "00" "8895" "0" "8895" "0" "c.8895C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016210" "00003117" "00" "8899" "0" "8899" "0" "c.8899C>T" "" "p.(Arg2967Cys)" "r.(?)" "" "" "" "" "" "-" "0000016211" "00003117" "00" "8931" "0" "8931" "0" "c.8931C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016212" "00003117" "00" "8979" "13" "8979" "13" "c.8979+13C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016213" "00003117" "00" "8980" "-12" "8980" "-12" "c.8980-12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016214" "00003117" "00" "9014" "0" "9014" "0" "c.9014C>T" "" "p.(Ala3005Val)" "r.(?)" "" "" "" "" "" "-" "0000016215" "00003117" "00" "9015" "0" "9015" "0" "c.9015G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016216" "00003117" "00" "9077" "8" "9077" "8" "c.9077+8G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016217" "00003117" "00" "9108" "0" "9108" "0" "c.9108G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016218" "00003117" "00" "9198" "13" "9198" "13" "c.9198+13C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016219" "00003117" "00" "9319" "11" "9319" "11" "c.9319+11G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016220" "00003117" "00" "9326" "0" "9326" "0" "c.9326G>A" "" "p.(Arg3109His)" "r.(?)" "" "" "" "" "" "-" "0000016221" "00003117" "00" "9373" "0" "9373" "0" "c.9373T>C" "" "p.(Phe3125Leu)" "r.(?)" "" "" "" "" "" "-" "0000016222" "00003117" "00" "9616" "0" "9616" "0" "c.9616C>T" "" "p.(Arg3206Cys)" "r.(?)" "" "" "" "" "" "-" "0000016223" "00003117" "00" "9629" "0" "9629" "0" "c.9629T>C" "" "p.(Ile3210Thr)" "r.(?)" "" "" "" "" "" "-" "0000016224" "00003117" "00" "9670" "0" "9670" "0" "c.9670C>T" "" "p.(Arg3224Trp)" "r.(?)" "" "" "" "" "" "-" "0000016225" "00003117" "00" "9873" "0" "9873" "0" "c.9873G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016226" "00003117" "00" "10010" "0" "10010" "0" "c.10010T>C" "" "p.(Leu3337Pro)" "r.(?)" "" "" "" "" "" "-" "0000016227" "00003117" "00" "10042" "0" "10042" "0" "c.10042C>A" "" "p.(Pro3348Thr)" "r.(?)" "" "" "" "" "" "-" "0000016228" "00003117" "00" "10066" "0" "10066" "0" "c.*1C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016229" "00003117" "00" "10148" "0" "10148" "0" "c.*83G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016230" "00003117" "00" "10150" "0" "10150" "0" "c.*85G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016231" "00003117" "00" "10169" "0" "10169" "0" "c.*104G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016232" "00003117" "00" "10180" "0" "10181" "0" "c.*115_*116insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016233" "00003117" "00" "10269" "0" "10269" "0" "c.*204A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016234" "00003117" "00" "10414" "0" "10414" "0" "c.*349A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016235" "00003117" "00" "10426" "0" "10426" "0" "c.*361C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016236" "00003117" "00" "10499" "0" "10499" "0" "c.*434G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016237" "00003117" "00" "10575" "0" "10575" "0" "c.*510G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016238" "00003117" "00" "10580" "0" "10580" "0" "c.*515C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016239" "00003117" "00" "10677" "0" "10677" "0" "c.*612G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0