### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TAZ) # 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}}" "TAZ" "tafazzin" "X" "q28" "unknown" "NC_000023.10" "UD_132118909682" "" "" "" "1" "1" "11577" "6901" "300394" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "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 = 5 "{{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}}" "00000320" "TAZ" "transcript variant 5" "001" "NR_024048.1" "" "" "" "" "" "1" "1921" "1921" "153639877" "153650065" "00001" "2013-11-07 14:00:38" "" "" "" "X" "00000321" "TAZ" "transcript variant 1" "002" "NM_000116.3" "" "NP_000107.1" "" "" "" "-304" "1601" "879" "153639877" "153650065" "00001" "2013-11-07 14:00:38" "" "" "" "X" "00000322" "TAZ" "transcript variant 3" "003" "NM_181312.2" "" "NP_851829.1" "" "" "" "-304" "1559" "837" "153639877" "153650065" "00001" "2013-11-07 14:00:38" "" "" "" "X" "00000323" "TAZ" "transcript variant 2" "004" "NM_181311.2" "" "NP_851828.1" "" "" "" "-304" "1511" "789" "153639877" "153650065" "00001" "2013-11-07 14:00:38" "" "" "" "X" "00000324" "TAZ" "transcript variant 4" "005" "NM_181313.2" "" "NP_851830.1" "" "" "" "-304" "1469" "747" "153639877" "153650065" "00001" "2013-11-07 14:00:38" "" "" "" "X" ## 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}}" "00399" "BTHS" "BARTH SYNDROME; BTHS" "302060" "" "" "" "00001" "2014-03-27 15:34:53" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TAZ" "00399" ## 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 = 403 "{{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}}" "0000001560" "0" "77" "X" "153640406" "153640406" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 13:16:19" "TAZ_000009" "g.153640406C>G" "" "{PMID:15793838:15793838}" "" "rs62617809" "subst" "0" "; clinvar;" "-0.452" "" "" "" "" "MSCV_0001560" "" "0000001561" "0" "77" "X" "153640406" "153640406" "subst" "35" "0.171074" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-01-03 00:43:10" "TAZ_000010" "g.153640406C>T" "" "{PMID:15793838:15793838}" "" "rs62617809" "subst" "0" "; clinvar;" "-0.452" "" "" "" "" "MSCV_0001561" "" "0000001563" "0" "99" "X" "153640466" "153640466" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:08:30" "TAZ_000011" "g.153640466C>G" "" "{PMID:15098233:15098233};{PMID:1998334:1998334};{PMID:8630491:8630491};{PMID:6142097:6142097}" "" "rs104894941" "subst" "0" "; clinvar; ensembl; BSF_TAZ;" "-1.810" "" "" "" "" "MSCV_0001563" "" "0000001564" "0" "99" "X" "153641585" "153641585" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:08:30" "TAZ_000012" "g.153641585C>A" "" "{PMID:12032589:12032589}" "" "rs104894942" "subst" "0" "; clinvar; ensembl; BSF_TAZ;" "2.820" "" "" "" "" "MSCV_0001564" "" "0000001565" "0" "77" "X" "153641841" "153641841" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:08:31" "TAZ_000013" "g.153641841T>C" "" "" "" "" "subst" "0" "; clinvar; BSF_TAZ;" "5.800" "" "" "" "" "MSCV_0001565" "" "0000001566" "0" "99" "X" "153641844" "153641844" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-05-16 18:32:12" "TAZ_000001" "g.153641844T>C" "" "" "" "" "subst" "0" "; clinvar; BSF_TAZ;" "5.800" "" "" "" "" "MSCV_0001566" "" "0000001567" "0" "77" "X" "153641862" "153641862" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:47" "TAZ_000002" "g.153641862T>C" "" "" "" "" "subst" "0" "; clinvar; BSF_TAZ;" "5.800" "" "" "" "" "MSCV_0001567" "" "0000001568" "0" "99" "X" "153641886" "153641886" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:47" "TAZ_000003" "g.153641886T>C" "" "{PMID:11238270:11238270}" "" "rs104894937" "subst" "0" "; clinvar; ensembl; BSF_TAZ;" "5.800" "" "" "" "" "MSCV_0001568" "" "0000001569" "0" "99" "X" "153648376" "153648376" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:48" "TAZ_000004" "g.153648376G>A" "" "{PMID:9345098:9345098};{PMID:9382096:9382096};{PMID:20812380:20812380};{PMID:10484795:10484795};{PMID:19648820:19648820};{PMID:8042670:8042670};{PMID:9332651:9332651};{PMID:9382097:9382097}" "" "rs132630277" "subst" "0" "; clinvar; BSF_TAZ;" "4.440" "" "" "" "" "MSCV_0001569" "" "0000001570" "0" "77" "X" "153648377" "153648377" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:49" "TAZ_000005" "g.153648377G>A" "" "" "" "" "subst" "0" "; clinvar; BSF_TAZ;" "4.440" "" "" "" "" "MSCV_0001570" "" "0000001571" "0" "99" "X" "153648550" "153648550" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:49" "TAZ_000006" "g.153648550G>C" "" "" "" "" "subst" "0" "; BSF_TAZ;" "5.060" "" "" "" "" "MSCV_0001571" "" "0000001572" "0" "99" "X" "153649015" "153649015" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:50" "TAZ_000007" "g.153649015G>A" "" "" "" "" "subst" "0" "; clinvar; BSF_TAZ;" "3.000" "" "" "" "" "MSCV_0001572" "" "0000001574" "0" "99" "X" "153649015" "153649015" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:50" "TAZ_000008" "g.153649015G>C" "" "{PMID:9382096:9382096};{PMID:11896212:11896212};{PMID:12468278:12468278};{PMID:4685904:4685904}" "" "rs387907218" "subst" "0" "; clinvar; BSF_TAZ;" "3.000" "" "" "" "" "MSCV_0001574" "" "0000003463" "0" "77" "X" "153640190" "153640191" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-18 17:24:47" "TAZ_000014" "g.153640190_153640191insG" "" "" "" "" "ins" "0" "; BSF_TAZ;" "" "" "" "" "" "MSCV_0003463" "" "0000003464" "0" "55" "X" "153640231" "153640231" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-10 13:16:34" "TAZ_000015" "g.153640231G>A" "" "" "" "" "subst" "0" "; BSF_TAZ;" "4.140" "" "" "" "" "MSCV_0003464" "" "0000003465" "0" "77" "X" "153640233" "153640234" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-08 05:55:13" "TAZ_000016" "g.153640233_153640234del" "" "" "" "" "del" "0" "; BSF_TAZ;" "" "" "" "" "" "MSCV_0003465" "" "0000003466" "0" "55" "X" "153640242" "153640242" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-10 12:59:21" "TAZ_000017" "g.153640242G>T" "" "" "" "rs112148852" "subst" "0" "; BSF_TAZ;" "3.270" "" "" "" "" "MSCV_0003466" "" "0000003467" "0" "77" "X" "153640262" "153640264" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-10 13:15:14" "TAZ_000018" "g.153640262_153640264del" "" "" "" "" "del" "0" "; BSF_TAZ;" "" "" "" "" "" "MSCV_0003467" "" "0000003468" "0" "77" "X" "153640263" "153640263" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 14:53:48" "TAZ_000019" "g.153640263T>A" "" "" "" "" "subst" "0" "; BSF_TAZ;" "4.140" "" "" "" "" "MSCV_0003468" "" "0000003469" "0" "55" "X" "153640266" "153640266" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 14:53:48" "TAZ_000020" "g.153640266G>A" "" "" "" "" "subst" "0" "; BSF_TAZ;" "3.270" "" "" "" "" "MSCV_0003469" "" "0000003470" "0" "77" "X" "153640290" "153640290" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-10 13:16:52" "TAZ_000021" "g.153640290G>C" "" "" "" "" "subst" "0" "; BSF_TAZ;" "3.880" "" "" "" "" "MSCV_0003470" "" "0000003471" "0" "77" "X" "153640294" "153640294" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 14:53:48" "TAZ_000022" "g.153640294G>A" "" "" "" "" "subst" "0" "; BSF_TAZ;" "3.880" "" "" "" "" "MSCV_0003471" "" "0000003472" "0" "77" "X" "153640294" "153640294" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-10 15:59:43" "TAZ_000023" "g.153640294G>C" "" "" "" "" "subst" "0" "; BSF_TAZ;" "3.880" "" "" "" "" "MSCV_0003472" "" "0000003473" "0" "77" "X" "153640295" "153640295" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-12-20 11:33:18" "TAZ_000024" "g.153640295T>C" "" "" "" "" "subst" "0" "; BSF_TAZ;" "3.880" "" "" "" "" "MSCV_0003473" "" "0000003476" "0" "77" "X" "153640421" "153640421" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-10 11:25:02" "TAZ_000025" "g.153640421A>G" "" "" "" "" "subst" "0" "; BSF_TAZ;" "4.050" "" "" "" "" "MSCV_0003476" "" "0000003477" "0" "77" "X" "153640422" "153640422" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-12-20 09:02:10" "TAZ_000026" "g.153640422G>C" "" "" "" "" "subst" "0" "; BSF_TAZ;" "3.180" "" "" "" "" "MSCV_0003477" "" "0000003478" "0" "55" "X" "153640431" "153640431" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:36:27" "TAZ_000027" "g.153640431A>G" "" "" "" "" "subst" "0" "; BSF_TAZ;" "4.140" "" "" "" "" "MSCV_0003478" "" "0000003479" "0" "77" "X" "153640437" "153640437" "del" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 14:53:48" "TAZ_000028" "g.153640437del" "" "" "" "" "del" "0" "; BSF_TAZ;" "4.140" "" "" "" "" "MSCV_0003479" "" "0000003480" "0" "55" "X" "153640440" "153640440" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:36:28" "TAZ_000029" "g.153640440A>C" "" "" "" "" "subst" "0" "; BSF_TAZ;" "4.140" "" "" "" "" "MSCV_0003480" "" "0000003481" "0" "77" "X" "153640453" "153640465" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-12-20 10:18:11" "TAZ_000030" "g.153640453_153640465del" "" "" "" "" "del" "0" "; BSF_TAZ;" "" "" "" "" "" "MSCV_0003481" "" "0000003482" "0" "77" "X" "153640456" "153640457" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:36:29" "TAZ_000031" "g.153640456_153640457del" "" "" "" "" "del" "0" "; BSF_TAZ;" "" "" "" "" "" "MSCV_0003482" "" "0000003483" "0" "55" "X" "153640462" "153640462" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-12-20 07:08:22" "TAZ_000032" "g.153640462T>C" "" "" "" "" "subst" "0" "; BSF_TAZ;" "4.140" "" "" "" "" "MSCV_0003483" "" "0000003485" "0" "00" "X" "153640470" "153640471" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:36:31" "TAZ_000033" "g.153640470_153640471insCT" "" "" "" "" "ins" "0" "; BSF_TAZ;" "" "" "" "" "" "MSCV_0003485" "" "0000003486" "0" "55" "X" "153640474" "153640474" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 17:30:33" "TAZ_000034" "g.153640474T>A" "" "" "" "" "subst" "0" "; BSF_TAZ;" "4.140" "" "" "" "" "MSCV_0003486" "" "0000003487" "0" "55" "X" "153640476" "153640476" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 14:53:48" "TAZ_000035" "g.153640476G>T" "" "" "" "" "subst" "0" "; BSF_TAZ;" "4.140" "" "" "" "" "MSCV_0003487" "" "0000003488" "0" "55" "X" "153640483" "153640483" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:59:36" "TAZ_000153" "g.153640483G>T" "" "" "" "" "subst" "0" "; BSF_TAZ;" "3.270" "" "" "" "" "MSCV_0003488" "" "0000003489" "0" "77" "X" "153640484" "153640484" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-09-06 05:19:20" "TAZ_000154" "g.153640484del" "" "" "" "" "del" "0" "; BSF_TAZ;" "-1.230" "" "" "" "" "MSCV_0003489" "" "0000003490" "0" "55" "X" "153640498" "153640498" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-09-06 19:08:03" "TAZ_000152" "g.153640498C>T" "" "" "" "" "subst" "0" "; 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clinvar;" "" "" "" "" "" "MSCV_0001571" "" "0000023547" "0" "77" "X" "153648551" "153648551" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:49" "TAZ_000130" "g.153648551G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0003586" "" "0000023548" "0" "33" "X" "153648561" "153648561" "subst" "35" "0.00018934" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:54" "TAZ_000199" "g.153648561C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0005413" "" "0000023549" "0" "33" "X" "153648564" "153648564" "subst" "35" "0.0000946701" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:41:59" "TAZ_000217" "g.153648564C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023549" "" "0000023550" "0" "33" "X" "153648579" "153648579" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:04" "TAZ_000204" "g.153648579G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0005416" "" "0000023551" "0" "99" "X" "153648996" "153648996" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:09" "TAZ_000068" "g.153648996G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0003596" "" "0000023552" "0" "00" "X" "153649005" "153649006" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:26" "TAZ_000228" "g.153649005_153649006del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023552" "" "0000023553" "0" "99" "X" "153649015" "153649015" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:30" "TAZ_000007" "g.153649015G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001572" "" "0000023554" "0" "99" "X" "153649015" "153649015" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:34" "TAZ_000008" "g.153649015G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001574" "" "0000023555" "0" "33" "X" "153649044" "153649044" "subst" "35" "0.00018934" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:19:16" "TAZ_000189" "g.153649044C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0005432" "" "0000023556" "0" "00" "X" "153649047" "153649056" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:19:22" "TAZ_000224" "g.153649047_153649056del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023556" "" "0000023557" "0" "55" "X" "153649048" "153649048" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:19:27" "TAZ_000225" "g.153649048C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023557" "" "0000023558" "0" "55" "X" "153649065" "153649065" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:19:34" "TAZ_000226" "g.153649065C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023558" "" "0000023559" "0" "33" "X" "153649071" "153649071" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:43" "TAZ_000218" "g.153649071G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023559" "" "0000023560" "0" "77" "X" "153649254" "153649254" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:47" "TAZ_000219" "g.153649254A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023560" "" "0000023561" "0" "33" "X" "153649265" "153649265" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:52" "TAZ_000220" "g.153649265G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023561" "" "0000023562" "0" "77" "X" "153649287" "153649287" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:56" "TAZ_000052" "g.153649287C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0003612" "" "0000023563" "0" "77" "X" "153649300" "153649300" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:38" "TAZ_000209" "g.153649300del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023563" "" "0000023564" "0" "33" "X" "153649337" "153649337" "subst" "35" "0.00463883" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:01" "TAZ_000181" "g.153649337G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0005448" "" "0000023565" "0" "55" "X" "153649730" "153649730" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:06" "TAZ_000221" "g.153649730C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023565" "" "0000023566" "0" "33" "X" "153649739" "153649739" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:11" "TAZ_000222" "g.153649739C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023566" "" "0000023567" "0" "11" "X" "153649813" "153649813" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:43:13" "TAZ_000208" "g.153649813G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023567" "" "0000023568" "0" "33" "X" "153649903" "153649903" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:15" "TAZ_000223" "g.153649903G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023568" "" "0000026881" "0" "00" "X" "153641833" "153641833" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:04:58" "TAZ_000232" "g.153641833C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026882" "0" "00" "X" "153641865" "153641865" "subst" "35" "0.0000946701" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:02:13" "TAZ_000161" "g.153641865C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026883" "0" "00" "X" "153641901" "153641901" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:54:16" "TAZ_000111" "g.153641901C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026884" "0" "00" "X" "153648393" "153648393" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:54:54" "TAZ_000231" "g.153648393G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026885" "0" "00" "X" "153649055" "153649055" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:37:37" "TAZ_000230" "g.153649055G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026886" "0" "00" "X" "153649080" "153649080" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:44" "TAZ_000229" "g.153649080T>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 = 2015 "{{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}}" "0000001560" "00000320" "77" "414" "-17" "414" "-17" "n.414-17C>G" "" "" "" "" "" "" "" "" "-" "0000001560" "00000321" "77" "110" "-17" "110" "-17" "c.110-17C>G" "" "" "" "" "" "" "" "" "-" "0000001560" "00000322" "77" "110" "-17" "110" "-17" "c.110-17C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001560" "00000323" "77" "110" "-17" "110" "-17" "c.110-17C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001560" "00000324" "77" "110" "-17" "110" "-17" "c.110-17C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001561" "00000320" "77" "414" "-17" "414" "-17" "n.414-17C>T" "" "" "" "" "" "" "" "" "-" "0000001561" "00000321" "77" "110" "-17" "110" "-17" "c.110-17C>T" "" "" "" "" "" "" "" "" "-" "0000001561" "00000322" "77" "110" "-17" "110" "-17" "c.110-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001561" "00000323" "77" "110" "-17" "110" "-17" "c.110-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001561" "00000324" "77" "110" "-17" "110" "-17" "c.110-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001563" "00000320" "99" "457" "0" "457" "0" "n.457C>G" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001563" "00000321" "99" "153" "0" "153" "0" "c.153C>G" "2/10" "p.(Tyr51*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001563" "00000322" "99" "153" "0" "153" "0" "c.153C>G" "2/10" "p.(Tyr51*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001563" "00000323" "99" "153" "0" "153" "0" "c.153C>G" "2/10" "p.(Tyr51*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001563" "00000324" "99" "153" "0" "153" "0" "c.153C>G" "2/10" "p.(Tyr51*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001564" "00000320" "99" "584" "0" "584" "0" "n.584C>A" "3/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001564" "00000321" "99" "280" "0" "280" "0" "c.280C>A" "3/10" "p.(Arg94Ser)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001564" "00000322" "99" "280" "0" "280" "0" "c.280C>A" "3/10" "p.(Arg94Ser)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001564" "00000323" "99" "280" "0" "280" "0" "c.280C>A" "3/10" "p.(Arg94Ser)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001564" "00000324" "99" "280" "0" "280" "0" "c.280C>A" "3/10" "p.(Arg94Ser)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001565" "00000320" "77" "717" "0" "717" "0" "n.717T>C" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001565" "00000321" "77" "307" "0" "307" "0" "c.307T>C" "4/10" "p.(Cys103Arg)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000001565" "00000322" "77" "307" "0" "307" "0" "c.307T>C" "4/10" "p.(Cys103Arg)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000001565" "00000323" "77" "307" "0" "307" "0" "c.307T>C" "4/10" "p.(Cys103Arg)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000001565" "00000324" "77" "307" "0" "307" "0" "c.307T>C" "4/10" "p.(Cys103Arg)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000001566" "00000320" "99" "720" "0" "720" "0" "n.720T>C" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001566" "00000321" "99" "310" "0" "310" "0" "c.310T>C" "4/10" "p.(Phe104Leu)" "r.(?)" "possibly_damaging(0.654)" "" "missense_variant" "" "" "deleterious(0)" "0000001566" "00000322" "99" "310" "0" "310" "0" "c.310T>C" "4/10" "p.(Phe104Leu)" "r.(?)" "possibly_damaging(0.654)" "" "missense_variant" "" "" "deleterious(0)" "0000001566" "00000323" "99" "310" "0" "310" "0" "c.310T>C" "4/10" "p.(Phe104Leu)" "r.(?)" "possibly_damaging(0.654)" "" "missense_variant" "" "" "deleterious(0)" "0000001566" "00000324" "99" "310" "0" "310" "0" "c.310T>C" "4/10" "p.(Phe104Leu)" "r.(?)" "possibly_damaging(0.654)" "" "missense_variant" "" "" "deleterious(0)" "0000001567" "00000320" "77" "738" "0" "738" "0" "n.738T>C" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001567" "00000321" "77" "328" "0" "328" "0" "c.328T>C" "4/10" "p.(Ser110Pro)" "r.(?)" "benign(0.335)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001567" "00000322" "77" "328" "0" "328" "0" "c.328T>C" "4/10" "p.(Ser110Pro)" "r.(?)" "benign(0.335)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001567" "00000323" "77" "328" "0" "328" "0" "c.328T>C" "4/10" "p.(Ser110Pro)" "r.(?)" "benign(0.335)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001567" "00000324" "77" "328" "0" "328" "0" "c.328T>C" "4/10" "p.(Ser110Pro)" "r.(?)" "benign(0.335)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001568" "00000320" "99" "762" "0" "762" "0" "n.762T>C" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001568" "00000321" "99" "352" "0" "352" "0" "c.352T>C" "4/10" "p.(Cys118Arg)" "r.(?)" "possibly_damaging(0.783)" "" "missense_variant" "" "" "deleterious(0)" "0000001568" "00000322" "99" "352" "0" "352" "0" "c.352T>C" "4/10" "p.(Cys118Arg)" "r.(?)" "possibly_damaging(0.783)" "" "missense_variant" "" "" "deleterious(0)" "0000001568" "00000323" "99" "352" "0" "352" "0" "c.352T>C" "4/10" "p.(Cys118Arg)" "r.(?)" "possibly_damaging(0.783)" "" "missense_variant" "" "" "deleterious(0)" "0000001568" "00000324" "99" "352" "0" "352" "0" "c.352T>C" "4/10" "p.(Cys118Arg)" "r.(?)" "possibly_damaging(0.783)" "" "missense_variant" "" "" "deleterious(0)" "0000001569" "00000320" "99" "909" "0" "909" "0" "n.909G>A" "7/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001569" "00000321" "99" "589" "0" "589" "0" "c.589G>A" "8/11" "p.(Gly197Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001569" "00000322" "99" "547" "0" "547" "0" "c.547G>A" "7/10" "p.(Gly183Arg)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant" "" "" "deleterious(0)" "0000001569" "00000323" "99" "499" "0" "499" "0" "c.499G>A" "7/10" "p.(Gly167Arg)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001569" "00000324" "99" "457" "0" "457" "0" "c.457G>A" "6/9" "p.(Gly153Arg)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000001570" "00000320" "77" "910" "0" "910" "0" "n.910G>A" "7/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001570" "00000321" "77" "590" "0" "590" "0" "c.590G>A" "8/11" "p.(Gly197Glu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001570" "00000322" "77" "548" "0" "548" "0" "c.548G>A" "7/10" "p.(Gly183Glu)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000001570" "00000323" "77" "500" "0" "500" "0" "c.500G>A" "7/10" "p.(Gly167Glu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001570" "00000324" "77" "458" "0" "458" "0" "c.458G>A" "6/9" "p.(Gly153Glu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001571" "00000320" "55" "967" "-1" "967" "-1" "n.967-1G>C" "-" "p.?" "r.spl?" 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"probably_damaging(0.969)" "" "missense_variant" "" "" "deleterious(0)" "0000001572" "00000323" "99" "628" "0" "628" "0" "c.628G>A" "9/10" "p.(Gly210Arg)" "r.(?)" "probably_damaging(0.969)" "" "missense_variant" "" "" "deleterious(0)" "0000001572" "00000324" "99" "586" "0" "586" "0" "c.586G>A" "8/9" "p.(Gly196Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001574" "00000320" "99" "1038" "0" "1038" "0" "n.1038G>C" "9/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001574" "00000321" "99" "718" "0" "718" "0" "c.718G>C" "10/11" "p.(Gly240Arg)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000001574" "00000322" "99" "676" "0" "676" "0" "c.676G>C" "9/10" "p.(Gly226Arg)" "r.(?)" "probably_damaging(0.969)" "" "missense_variant" "" "" "deleterious(0)" "0000001574" "00000323" "99" "628" "0" "628" "0" "c.628G>C" "9/10" "p.(Gly210Arg)" "r.(?)" "probably_damaging(0.969)" "" "missense_variant" "" "" "deleterious(0)" "0000001574" "00000324" "99" "586" "0" "586" "0" "c.586G>C" "8/9" "p.(Gly196Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000003463" "00000320" "77" "314" "0" "315" "0" "n.314_315insG" "1/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003463" "00000321" "77" "10" "0" "11" "0" "c.10_11insG" "1/10" "p.(His4Argfs*130)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003463" "00000322" "77" "10" "0" "11" "0" "c.10_11insG" "1/10" "p.(His4Argfs*130)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003463" "00000323" "77" "10" "0" "11" "0" "c.10_11insG" "1/10" "p.(His4Argfs*169)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003463" "00000324" "77" "10" "0" "11" "0" "c.10_11insG" "1/10" "p.(His4Argfs*155)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003464" "00000320" "55" "355" "0" "355" "0" "n.355G>A" "1/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003464" "00000321" "55" "51" "0" "51" "0" "c.51G>A" "1/10" "p.(Trp17*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003464" "00000322" "55" "51" "0" "51" "0" "c.51G>A" "1/10" "p.(Trp17*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003464" "00000323" "55" "51" "0" "51" "0" "c.51G>A" "1/10" "p.(Trp17*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003464" "00000324" "55" "51" "0" "51" "0" "c.51G>A" "1/10" "p.(Trp17*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003465" "00000320" "77" "357" "0" "358" "0" "n.357_358del" "" "" "" "" "" "" "" "" "-" "0000003465" "00000321" "77" "53" "0" "54" "0" "c.53_54del" "" "p.(Leu19Glyfs*114)" "r.(?)" "" "" "" "" "" "-" "0000003465" "00000322" "77" "53" "0" "54" "0" "c.53_54del" "" "p.(Leu19Glyfs*114)" "r.(?)" "" "" "" "" "" "-" "0000003465" "00000323" "77" "53" "0" "54" "0" "c.53_54del" "" "p.(Leu19Glyfs*153)" "r.(?)" "" "" "" "" "" "-" "0000003465" "00000324" "77" "53" "0" "54" "0" "c.53_54del" "" "p.(Leu19Glyfs*139)" "r.(?)" "" "" "" "" "" "-" "0000003466" "00000320" "55" "366" "0" "366" "0" "n.366G>T" "1/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003466" "00000321" "55" "62" "0" "62" "0" "c.62G>T" "1/10" "p.(Ser21Ile)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000003466" "00000322" "55" "62" "0" "62" "0" "c.62G>T" "1/10" "p.(Ser21Ile)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000003466" "00000323" "55" "62" "0" "62" "0" "c.62G>T" "1/10" "p.(Ser21Ile)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000003466" "00000324" "55" "62" "0" "62" "0" "c.62G>T" "1/10" "p.(Ser21Ile)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000003467" "00000320" "77" "386" "0" "388" "0" "n.386_388del" "" "" "" "" "" "" "" "" "-" "0000003467" "00000321" "77" "82" "0" "84" "0" "c.82_84del" "" "p.(Val28del)" "r.(?)" "" "" "" "" "" "-" "0000003467" "00000322" "77" "82" "0" "84" "0" "c.82_84del" "" "p.(Val28del)" "r.(?)" "" "" "" "" "" "-" "0000003467" "00000323" "77" "82" "0" "84" "0" "c.82_84del" "" "p.(Val28del)" "r.(?)" "" "" "" "" "" "-" "0000003467" "00000324" "77" "82" "0" "84" "0" "c.82_84del" "" "p.(Val28del)" "r.(?)" "" "" "" "" "" "-" "0000003468" "00000320" "77" "387" "0" "387" "0" "n.387T>A" "1/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003468" "00000321" "77" "83" "0" "83" "0" "c.83T>A" "1/10" "p.(Val28Glu)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003468" "00000322" "77" "83" "0" "83" "0" "c.83T>A" "1/10" "p.(Val28Glu)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003468" "00000323" "77" "83" "0" "83" "0" "c.83T>A" "1/10" "p.(Val28Glu)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003468" "00000324" "77" "83" "0" "83" "0" "c.83T>A" "1/10" "p.(Val28Glu)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003469" "00000320" "55" "390" "0" "390" "0" "n.390G>A" "1/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003469" "00000321" "55" "86" "0" "86" "0" "c.86G>A" "1/10" "p.(Gly29Asp)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0)" "0000003469" "00000322" "55" "86" "0" "86" "0" "c.86G>A" "1/10" "p.(Gly29Asp)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0)" "0000003469" "00000323" "55" "86" "0" "86" "0" "c.86G>A" "1/10" "p.(Gly29Asp)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0)" "0000003469" "00000324" "55" "86" "0" "86" "0" "c.86G>A" "1/10" "p.(Gly29Asp)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0)" "0000003470" "00000320" "77" "413" "1" "413" "1" "n.413+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant,non_coding_transcript_variant" "" "" "-" "0000003470" "00000321" "77" "109" "1" "109" "1" "c.109+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003470" "00000322" "77" "109" "1" "109" "1" "c.109+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003470" "00000323" "77" "109" "1" "109" "1" "c.109+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003470" "00000324" "77" "109" "1" "109" "1" "c.109+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003471" "00000320" "77" "413" "5" "413" "5" "n.413+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003471" "00000321" "77" "109" "5" "109" "5" "c.109+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003471" "00000322" "77" "109" "5" "109" "5" "c.109+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003471" "00000323" "77" "109" "5" "109" "5" "c.109+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003471" "00000324" "77" "109" "5" "109" "5" "c.109+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003472" "00000320" "77" "413" "5" "413" "5" "n.413+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003472" "00000321" "77" "109" "5" "109" "5" "c.109+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003472" "00000322" "77" "109" "5" "109" "5" "c.109+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003472" "00000323" "77" "109" "5" "109" "5" "c.109+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003472" "00000324" "77" "109" "5" "109" "5" "c.109+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003473" "00000320" "77" "413" "6" "413" "6" "n.413+6T>C" "" "" "" "" "" "" "" "" "-" "0000003473" "00000321" "77" "109" "6" "109" "6" "c.109+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003473" "00000322" "77" "109" "6" "109" "6" "c.109+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003473" "00000323" "77" "109" "6" "109" "6" "c.109+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003473" "00000324" "77" "109" "6" "109" "6" "c.109+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003476" "00000320" "77" "414" "-2" "414" "-2" "n.414-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000003476" "00000321" "77" "110" "-2" "110" "-2" "c.110-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003476" "00000322" "77" "110" "-2" "110" "-2" "c.110-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003476" "00000323" "77" "110" "-2" "110" "-2" "c.110-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003476" "00000324" "77" "110" "-2" "110" "-2" "c.110-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003477" "00000320" "77" "414" "-1" "414" "-1" "n.414-1G>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000003477" "00000321" "77" "110" "-1" "110" "-1" "c.110-1G>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003477" "00000322" "77" "110" "-1" "110" "-1" "c.110-1G>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003477" "00000323" "77" "110" "-1" "110" "-1" "c.110-1G>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003477" "00000324" "77" "110" "-1" "110" "-1" "c.110-1G>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003478" "00000320" "55" "422" "0" "422" "0" "n.422A>G" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003478" "00000321" "55" "118" "0" "118" "0" "c.118A>G" "2/10" "p.(Asn40Asp)" "r.(?)" "probably_damaging(0.913)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003478" "00000322" "55" "118" "0" "118" "0" "c.118A>G" "2/10" "p.(Asn40Asp)" "r.(?)" "probably_damaging(0.913)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003478" "00000323" "55" "118" "0" "118" "0" "c.118A>G" "2/10" "p.(Asn40Asp)" "r.(?)" "probably_damaging(0.913)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003478" "00000324" "55" "118" "0" "118" "0" "c.118A>G" "2/10" "p.(Asn40Asp)" "r.(?)" "probably_damaging(0.913)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003479" "00000320" "77" "428" "0" "428" "0" "n.428del" "" "" "" "" "" "" "" "" "-" "0000003479" "00000321" "77" "124" "0" "124" "0" "c.124del" "" "p.(Leu42*)" "r.(?)" "" "" "" "" "" "-" "0000003479" "00000322" "77" "124" "0" "124" "0" "c.124del" "" "p.(Leu42*)" "r.(?)" "" "" "" "" "" "-" "0000003479" "00000323" "77" "124" "0" "124" "0" "c.124del" "" "p.(Leu42*)" "r.(?)" "" "" "" "" "" "-" "0000003479" "00000324" "77" "124" "0" "124" "0" "c.124del" "" "p.(Leu42*)" "r.(?)" "" "" "" "" "" "-" "0000003480" "00000320" "55" "431" "0" "431" "0" "n.431A>C" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003480" "00000321" "55" "127" "0" "127" "0" "c.127A>C" "2/10" "p.(Thr43Pro)" "r.(?)" "benign(0.419)" "" "missense_variant" "" "" "tolerated(0.17)" "0000003480" "00000322" "55" "127" "0" "127" "0" "c.127A>C" "2/10" "p.(Thr43Pro)" "r.(?)" "benign(0.419)" "" "missense_variant" "" "" "tolerated(0.17)" "0000003480" "00000323" "55" "127" "0" "127" "0" "c.127A>C" "2/10" "p.(Thr43Pro)" "r.(?)" "benign(0.419)" "" "missense_variant" "" "" "tolerated(0.17)" "0000003480" "00000324" "55" "127" "0" "127" "0" "c.127A>C" "2/10" "p.(Thr43Pro)" "r.(?)" "benign(0.419)" "" "missense_variant" "" "" "tolerated(0.17)" "0000003481" "00000320" "77" "444" "0" "456" "0" "n.444_456del" "" "" "" "" "" "" "" "" "-" "0000003481" "00000321" "77" "140" "0" "152" "0" "c.140_152del" "" "p.(Arg47Thrfs*32)" "r.(?)" "" "" "" "" "" "-" "0000003481" "00000322" "77" "140" "0" "152" "0" "c.140_152del" "" "p.(Arg47Thrfs*32)" "r.(?)" "" "" "" "" "" "-" "0000003481" "00000323" "77" "140" "0" "152" "0" "c.140_152del" "" "p.(Arg47Thrfs*32)" "r.(?)" "" "" "" "" "" "-" "0000003481" "00000324" "77" "140" "0" "152" "0" "c.140_152del" "" "p.(Arg47Thrfs*32)" "r.(?)" "" "" "" "" "" "-" "0000003482" "00000320" "77" "447" "0" "448" "0" "n.447_448del" "" "" "" "" "" "" "" "" "-" "0000003482" "00000321" "77" "143" "0" "144" "0" "c.143_144del" "" "p.(Glu48Glyfs*85)" "r.(?)" "" "" "" "" "" "-" "0000003482" "00000322" "77" "143" "0" "144" "0" "c.143_144del" "" "p.(Glu48Glyfs*85)" "r.(?)" "" "" "" "" "" "-" "0000003482" "00000323" "77" "143" "0" "144" "0" "c.143_144del" "" "p.(Glu48Glyfs*124)" "r.(?)" "" "" "" "" "" "-" "0000003482" "00000324" "77" "143" "0" "144" "0" "c.143_144del" "" "p.(Glu48Glyfs*110)" "r.(?)" "" "" "" "" "" "-" "0000003483" "00000320" "55" "453" "0" "453" "0" "n.453T>C" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003483" "00000321" "55" "149" "0" "149" "0" "c.149T>C" "2/10" "p.(Leu50Pro)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003483" "00000322" "55" "149" "0" "149" "0" "c.149T>C" "2/10" "p.(Leu50Pro)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003483" "00000323" "55" "149" "0" "149" "0" "c.149T>C" "2/10" "p.(Leu50Pro)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003483" "00000324" "55" "149" "0" "149" "0" "c.149T>C" "2/10" "p.(Leu50Pro)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003485" "00000320" "00" "461" "0" "462" "0" "n.461_462insCT" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003485" "00000321" "00" "157" "0" "158" "0" "c.157_158insCT" "2/10" "p.(Leu53Profs*31)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003485" "00000322" "00" "157" "0" "158" "0" "c.157_158insCT" "2/10" "p.(Leu53Profs*31)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003485" "00000323" "00" "157" "0" "158" "0" "c.157_158insCT" "2/10" "p.(Leu53Profs*31)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003485" "00000324" "00" "157" "0" "158" "0" "c.157_158insCT" "2/10" "p.(Leu53Profs*31)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003486" "00000320" "55" "465" "0" "465" "0" "n.465T>A" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003486" "00000321" "55" "161" "0" "161" "0" "c.161T>A" "2/10" "p.(Ile54Asn)" "r.(?)" "probably_damaging(0.944)" "" "missense_variant" "" "" "deleterious(0)" "0000003486" "00000322" "55" "161" "0" "161" "0" "c.161T>A" "2/10" "p.(Ile54Asn)" "r.(?)" "probably_damaging(0.944)" "" "missense_variant" "" "" "deleterious(0)" "0000003486" "00000323" "55" "161" "0" "161" "0" "c.161T>A" "2/10" "p.(Ile54Asn)" "r.(?)" "probably_damaging(0.944)" "" "missense_variant" "" "" "deleterious(0)" "0000003486" "00000324" "55" "161" "0" "161" "0" "c.161T>A" "2/10" "p.(Ile54Asn)" "r.(?)" "probably_damaging(0.944)" "" "missense_variant" "" "" "deleterious(0)" "0000003487" "00000320" "55" "467" "0" "467" "0" "n.467G>T" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003487" "00000321" "55" "163" "0" "163" "0" "c.163G>T" "2/10" "p.(Glu55*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003487" "00000322" "55" "163" "0" "163" "0" "c.163G>T" "2/10" "p.(Glu55*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003487" "00000323" "55" "163" "0" "163" "0" "c.163G>T" "2/10" "p.(Glu55*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003487" "00000324" "55" "163" "0" "163" "0" "c.163G>T" "2/10" "p.(Glu55*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003488" "00000320" "55" "474" "0" "474" "0" "n.474G>T" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003488" "00000321" "55" "170" "0" "170" "0" "c.170G>T" "2/10" "p.(Arg57Leu)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000003488" "00000322" "55" "170" "0" "170" "0" "c.170G>T" "2/10" "p.(Arg57Leu)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000003488" "00000323" "55" "170" "0" "170" "0" "c.170G>T" "2/10" "p.(Arg57Leu)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000003488" "00000324" "55" "170" "0" "170" "0" "c.170G>T" "2/10" "p.(Arg57Leu)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000003489" "00000320" "77" "475" "0" "475" "0" "n.475del" "" "" "" "" "" "" "" "" "-" "0000003489" "00000321" "77" "171" "0" "171" "0" "c.171del" "" "p.(Gly58Alafs*25)" "r.(?)" "" "" "" "" "" "-" "0000003489" "00000322" "77" "171" "0" "171" "0" "c.171del" "" "p.(Gly58Alafs*25)" "r.(?)" "" "" "" "" "" "-" "0000003489" "00000323" "77" "171" "0" "171" "0" "c.171del" "" "p.(Gly58Alafs*25)" "r.(?)" "" "" "" "" "" "-" "0000003489" "00000324" "77" "171" "0" "171" "0" "c.171del" "" "p.(Gly58Alafs*25)" "r.(?)" "" "" "" "" "" "-" "0000003490" "00000320" "55" "489" "0" "489" "0" "n.489C>T" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003490" "00000321" "55" "185" "0" "185" "0" "c.185C>T" "2/10" "p.(Pro62Leu)" "r.(?)" "probably_damaging(0.929)" "" "missense_variant" "" "" "deleterious(0)" "0000003490" "00000322" "55" "185" "0" "185" "0" "c.185C>T" "2/10" "p.(Pro62Leu)" "r.(?)" "probably_damaging(0.929)" "" "missense_variant" "" "" "deleterious(0)" "0000003490" "00000323" "55" "185" "0" "185" "0" "c.185C>T" "2/10" "p.(Pro62Leu)" "r.(?)" "probably_damaging(0.929)" "" "missense_variant" "" "" "deleterious(0)" "0000003490" "00000324" "55" "185" "0" "185" "0" "c.185C>T" "2/10" "p.(Pro62Leu)" "r.(?)" "probably_damaging(0.929)" "" "missense_variant" "" "" "deleterious(0)" "0000003491" "00000320" "55" "511" "0" "511" "0" "n.511C>G" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003491" "00000321" "55" "207" "0" "207" "0" "c.207C>G" "2/10" "p.(His69Gln)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003491" "00000322" "55" "207" "0" "207" "0" "c.207C>G" "2/10" "p.(His69Gln)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003491" "00000323" "55" "207" "0" "207" "0" "c.207C>G" "2/10" "p.(His69Gln)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003491" "00000324" "55" "207" "0" "207" "0" "c.207C>G" "2/10" "p.(His69Gln)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003492" "00000320" "77" "512" "0" "512" "0" "n.512C>T" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003492" "00000321" "77" "208" "0" "208" "0" "c.208C>T" "2/10" "p.(Gln70*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003492" "00000322" "77" "208" "0" "208" "0" "c.208C>T" "2/10" "p.(Gln70*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003492" "00000323" "77" "208" "0" "208" "0" "c.208C>T" "2/10" "p.(Gln70*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003492" "00000324" "77" "208" "0" "208" "0" "c.208C>T" "2/10" "p.(Gln70*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003493" "00000320" "55" "515" "0" "515" "0" "n.515T>C" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003493" "00000321" "55" "211" "0" "211" "0" "c.211T>C" "2/10" "p.(Ser71Pro)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000003493" "00000322" "55" "211" "0" "211" "0" "c.211T>C" "2/10" "p.(Ser71Pro)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000003493" "00000323" "55" "211" "0" "211" "0" "c.211T>C" "2/10" "p.(Ser71Pro)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000003493" "00000324" "55" "211" "0" "211" "0" "c.211T>C" "2/10" "p.(Ser71Pro)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000003494" "00000320" "55" "520" "0" "520" "0" "n.520C>A" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003494" "00000321" "55" "216" "0" "216" "0" "c.216C>A" "2/10" "p.(Cys72*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003494" "00000322" "55" "216" "0" "216" "0" "c.216C>A" "2/10" "p.(Cys72*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003494" "00000323" "55" "216" "0" "216" "0" "c.216C>A" "2/10" "p.(Cys72*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003494" "00000324" "55" "216" "0" "216" "0" "c.216C>A" "2/10" "p.(Cys72*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003495" "00000320" "55" "526" "0" "526" "0" "n.526C>G" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003495" "00000321" "55" "222" "0" "222" "0" "c.222C>G" "2/10" "p.(Asp74Glu)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000003495" "00000322" "55" "222" "0" "222" "0" "c.222C>G" "2/10" "p.(Asp74Glu)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000003495" "00000323" "55" "222" "0" "222" "0" "c.222C>G" "2/10" "p.(Asp74Glu)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000003495" "00000324" "55" "222" "0" "222" "0" "c.222C>G" "2/10" "p.(Asp74Glu)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000003496" "00000320" "55" "527" "0" "527" "0" "n.527G>C" "2/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003496" "00000321" "55" "223" "0" "223" "0" "c.223G>C" "2/10" "p.(Asp75His)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003496" "00000322" "55" "223" "0" "223" "0" "c.223G>C" "2/10" "p.(Asp75His)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003496" "00000323" "55" "223" "0" "223" "0" "c.223G>C" "2/10" "p.(Asp75His)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003496" "00000324" "55" "223" "0" "223" "0" "c.223G>C" "2/10" "p.(Asp75His)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003497" "00000320" "77" "531" "0" "531" "0" "n.531del" "" "" "" "" "" "" "" "" "-" "0000003497" "00000321" "77" "227" "0" "227" "0" "c.227del" "" "p.(Pro76Leufs*7)" "r.(?)" "" "" "" "" "" "-" "0000003497" "00000322" "77" "227" "0" "227" "0" "c.227del" "" "p.(Pro76Leufs*7)" "r.(?)" "" "" "" "" "" "-" "0000003497" "00000323" "77" "227" "0" "227" "0" "c.227del" "" "p.(Pro76Leufs*7)" "r.(?)" "" "" "" "" "" "-" "0000003497" "00000324" "77" "227" "0" "227" "0" "c.227del" "" "p.(Pro76Leufs*7)" "r.(?)" "" "" "" "" "" "-" "0000003498" "00000320" "55" "540" "0" "540" "0" "n.540G>A" "2/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003498" "00000321" "55" "236" "0" "236" "0" "c.236G>A" "2/10" "p.(Trp79*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003498" "00000322" "55" "236" "0" "236" "0" "c.236G>A" "2/10" "p.(Trp79*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003498" "00000323" "55" "236" "0" "236" "0" "c.236G>A" "2/10" "p.(Trp79*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003498" "00000324" "55" "236" "0" "236" "0" "c.236G>A" "2/10" "p.(Trp79*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003499" "00000320" "77" "541" "0" "541" "0" "n.541G>A" "2/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003499" "00000321" "77" "237" "0" "237" "0" "c.237G>A" "2/10" "p.(Trp79*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003499" "00000322" "77" "237" "0" "237" "0" "c.237G>A" "2/10" "p.(Trp79*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003499" "00000323" "77" "237" "0" "237" "0" "c.237G>A" "2/10" "p.(Trp79*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003499" "00000324" "77" "237" "0" "237" "0" "c.237G>A" "2/10" "p.(Trp79*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003500" "00000320" "55" "542" "0" "542" "0" "n.542G>A" "2/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003500" "00000321" "55" "238" "0" "238" "0" "c.238G>A" "2/10" "p.(Gly80Arg)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003500" "00000322" "55" "238" "0" "238" "0" "c.238G>A" "2/10" "p.(Gly80Arg)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003500" "00000323" "55" "238" "0" "238" "0" "c.238G>A" "2/10" "p.(Gly80Arg)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003500" "00000324" "55" "238" "0" "238" "0" "c.238G>A" "2/10" "p.(Gly80Arg)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003501" "00000320" "55" "542" "2" "542" "2" "n.542+2T>G" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant,non_coding_transcript_variant" "" "" "-" "0000003501" "00000321" "55" "238" "2" "238" "2" "c.238+2T>G" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003501" "00000322" "55" "238" "2" "238" "2" "c.238+2T>G" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003501" "00000323" "55" "238" "2" "238" "2" "c.238+2T>G" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003501" "00000324" "55" "238" "2" "238" "2" "c.238+2T>G" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003502" "00000320" "55" "543" "-1" "543" "-1" "n.543-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000003502" "00000321" "55" "239" "-1" "239" "-1" "c.239-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003502" "00000322" "55" "239" "-1" "239" "-1" "c.239-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003502" "00000323" "55" "239" "-1" "239" "-1" "c.239-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003502" "00000324" "55" "239" "-1" "239" "-1" "c.239-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003503" "00000320" "55" "543" "-1" "543" "-1" "n.543-1G>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000003503" "00000321" "55" "239" "-1" "239" "-1" "c.239-1G>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003503" "00000322" "55" "239" "-1" "239" "-1" "c.239-1G>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003503" "00000323" "55" "239" "-1" "239" "-1" "c.239-1G>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003503" "00000324" "55" "239" "-1" "239" "-1" "c.239-1G>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003504" "00000320" "55" "543" "0" "543" "0" "n.543G>A" "3/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003504" "00000321" "55" "239" "0" "239" "0" "c.239G>A" "3/10" "p.(Gly80Glu)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003504" "00000322" "55" "239" "0" "239" "0" "c.239G>A" "3/10" "p.(Gly80Glu)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003504" "00000323" "55" "239" "0" "239" "0" "c.239G>A" "3/10" "p.(Gly80Glu)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003504" "00000324" "55" "239" "0" "239" "0" "c.239G>A" "3/10" "p.(Gly80Glu)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003505" "00000320" "77" "543" "0" "544" "0" "n.543_544insC" "3/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003505" "00000321" "77" "239" "0" "240" "0" "c.239_240insC" "3/10" "p.(Ile81Aspfs*53)" "r.(?)" "-" "" "frameshift_variant,splice_region_variant" "" "" "-" "0000003505" "00000322" "77" "239" "0" "240" "0" "c.239_240insC" "3/10" "p.(Ile81Aspfs*53)" "r.(?)" "-" "" "frameshift_variant,splice_region_variant" "" "" "-" "0000003505" "00000323" "77" "239" "0" "240" "0" "c.239_240insC" "3/10" "p.(Ile81Aspfs*92)" "r.(?)" "-" "" "frameshift_variant,splice_region_variant" "" "" "-" "0000003505" "00000324" "77" "239" "0" "240" "0" "c.239_240insC" "3/10" "p.(Ile81Aspfs*78)" "r.(?)" "-" "" "frameshift_variant,splice_region_variant" "" "" "-" "0000003506" "00000320" "55" "549" "0" "549" "0" "n.549T>C" "3/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003506" "00000321" "55" "245" "0" "245" "0" "c.245T>C" "3/10" "p.(Leu82Pro)" "r.(?)" "probably_damaging(0.959)" "" "missense_variant" "" "" "deleterious(0)" "0000003506" "00000322" "55" "245" "0" "245" "0" "c.245T>C" "3/10" "p.(Leu82Pro)" "r.(?)" "probably_damaging(0.959)" "" "missense_variant" "" "" "deleterious(0)" "0000003506" "00000323" "55" "245" "0" "245" "0" "c.245T>C" "3/10" "p.(Leu82Pro)" "r.(?)" "probably_damaging(0.959)" "" "missense_variant" "" "" "deleterious(0)" "0000003506" "00000324" "55" "245" "0" "245" "0" "c.245T>C" "3/10" "p.(Leu82Pro)" "r.(?)" "probably_damaging(0.959)" "" "missense_variant" "" "" "deleterious(0)" "0000003507" "00000320" "55" "557" "0" "557" "0" "n.557C>T" "3/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003507" "00000321" "55" "253" "0" "253" "0" "c.253C>T" "3/10" "p.(Arg85Cys)" "r.(?)" "possibly_damaging(0.88)" "" "missense_variant" "" "" "deleterious(0)" "0000003507" "00000322" "55" "253" "0" "253" "0" "c.253C>T" "3/10" "p.(Arg85Cys)" "r.(?)" "possibly_damaging(0.88)" "" "missense_variant" "" "" "deleterious(0)" "0000003507" "00000323" "55" "253" "0" "253" "0" "c.253C>T" "3/10" "p.(Arg85Cys)" "r.(?)" "possibly_damaging(0.88)" "" "missense_variant" "" "" "deleterious(0)" "0000003507" "00000324" "55" "253" "0" "253" "0" "c.253C>T" "3/10" "p.(Arg85Cys)" "r.(?)" "possibly_damaging(0.88)" "" "missense_variant" "" "" "deleterious(0)" "0000003508" "00000320" "77" "568" "0" "568" "0" "n.568G>A" "3/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003508" "00000321" "77" "264" "0" "264" "0" "c.264G>A" "3/10" "p.(Trp88*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003508" "00000322" "77" "264" "0" "264" "0" "c.264G>A" "3/10" "p.(Trp88*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003508" "00000323" "77" "264" "0" "264" "0" "c.264G>A" "3/10" "p.(Trp88*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003508" "00000324" "77" "264" "0" "264" "0" "c.264G>A" "3/10" "p.(Trp88*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003510" "00000320" "55" "584" "0" "584" "0" "n.584C>G" "3/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003510" "00000321" "55" "280" "0" "280" "0" "c.280C>G" "3/10" "p.(Arg94Gly)" "r.(?)" "possibly_damaging(0.882)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003510" "00000322" "55" "280" "0" "280" "0" "c.280C>G" "3/10" "p.(Arg94Gly)" "r.(?)" "possibly_damaging(0.882)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003510" "00000323" "55" "280" "0" "280" "0" "c.280C>G" "3/10" "p.(Arg94Gly)" "r.(?)" "possibly_damaging(0.882)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003510" "00000324" "55" "280" "0" "280" "0" "c.280C>G" "3/10" "p.(Arg94Gly)" "r.(?)" "possibly_damaging(0.882)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003511" "00000320" "55" "584" "0" "584" "0" "n.584C>T" "3/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003511" "00000321" "55" "280" "0" "280" "0" "c.280C>T" "3/10" "p.(Arg94Cys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000003511" "00000322" "55" "280" "0" "280" "0" "c.280C>T" "3/10" "p.(Arg94Cys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000003511" "00000323" "55" "280" "0" "280" "0" "c.280C>T" "3/10" "p.(Arg94Cys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000003511" "00000324" "55" "280" "0" "280" "0" "c.280C>T" "3/10" "p.(Arg94Cys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000003512" "00000320" "77" "585" "0" "585" "0" "n.585delinsCT" "" "" "" "" "" "" "" "" "-" "0000003512" "00000321" "77" "281" "0" "281" "0" "c.281delinsCT" "" "p.(Arg94Profs*40)" "r.(?)" "" "" "" "" "" "-" "0000003512" "00000322" "77" "281" "0" "281" "0" "c.281delinsCT" "" "p.(Arg94Profs*40)" "r.(?)" "" "" "" "" "" "-" "0000003512" "00000323" "77" "281" "0" "281" "0" "c.281delinsCT" "" "p.(Arg94Profs*79)" "r.(?)" "" "" "" "" "" "-" "0000003512" "00000324" "77" "281" "0" "281" "0" "c.281delinsCT" "" "p.(Arg94Profs*65)" "r.(?)" "" "" "" "" "" "-" "0000003513" "00000320" "55" "585" "0" "585" "0" "n.585G>A" "3/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003513" "00000321" "55" "281" "0" "281" "0" "c.281G>A" "3/10" "p.(Arg94His)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003513" "00000322" "55" "281" "0" "281" "0" "c.281G>A" "3/10" "p.(Arg94His)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003513" "00000323" "55" "281" "0" "281" "0" "c.281G>A" "3/10" "p.(Arg94His)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003513" "00000324" "55" "281" "0" "281" "0" "c.281G>A" "3/10" "p.(Arg94His)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003514" "00000320" "55" "585" "0" "585" "0" "n.585G>T" "3/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003514" "00000321" "55" "281" "0" "281" "0" "c.281G>T" "3/10" "p.(Arg94Leu)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000003514" "00000322" "55" "281" "0" "281" "0" "c.281G>T" "3/10" "p.(Arg94Leu)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000003514" "00000323" "55" "281" "0" "281" "0" "c.281G>T" "3/10" "p.(Arg94Leu)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000003514" "00000324" "55" "281" "0" "281" "0" "c.281G>T" "3/10" "p.(Arg94Leu)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000003515" "00000320" "00" "588" "0" "589" "0" "n.588_589insGG" "3/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003515" "00000321" "00" "284" "0" "284" "1" "c.284_284+1insGG" "-" "p.?" "r.spl?" "-" "" "frameshift_variant,splice_region_variant" "" "" "-" "0000003515" "00000322" "00" "284" "0" "284" "1" "c.284_284+1insGG" "-" "p.?" "r.spl?" "-" "" "frameshift_variant,splice_region_variant" "" "" "-" "0000003515" "00000323" "00" "284" "0" "284" "1" "c.284_284+1insGG" "-" "p.?" "r.spl?" "-" "" "frameshift_variant,splice_region_variant" "" "" "-" "0000003515" "00000324" "00" "284" "0" "284" "1" "c.284_284+1insGG" "-" "p.?" "r.spl?" "-" "" "frameshift_variant,splice_region_variant" "" "" "-" "0000003516" "00000320" "55" "589" "0" "589" "0" "n.589G>C" "3/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003516" "00000321" "55" "284" "1" "284" "1" "c.284+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003516" "00000322" "55" "284" "1" "284" "1" "c.284+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003516" "00000323" "55" "284" "1" "284" "1" "c.284+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003516" "00000324" "55" "284" "1" "284" "1" "c.284+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003517" "00000320" "55" "591" "0" "591" "0" "n.591G>T" "3/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003517" "00000321" "55" "284" "3" "284" "3" "c.284+3G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003517" "00000322" "55" "284" "3" "284" "3" "c.284+3G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003517" "00000323" "55" "284" "3" "284" "3" "c.284+3G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003517" "00000324" "55" "284" "3" "284" "3" "c.284+3G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003518" "00000320" "55" "694" "4" "694" "4" "n.694+4G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003518" "00000321" "55" "284" "110" "284" "110" "c.284+110G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003518" "00000322" "55" "284" "110" "284" "110" "c.284+110G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003518" "00000323" "55" "284" "110" "284" "110" "c.284+110G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003518" "00000324" "55" "284" "110" "284" "110" "c.284+110G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003519" "00000320" "55" "695" "0" "695" "0" "n.695G>A" "4/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003519" "00000321" "55" "285" "0" "285" "0" "c.285G>A" "4/10" "p.(Trp95*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003519" "00000322" "55" "285" "0" "285" "0" "c.285G>A" "4/10" "p.(Trp95*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003519" "00000323" "55" "285" "0" "285" "0" "c.285G>A" "4/10" "p.(Trp95*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003519" "00000324" "55" "285" "0" "285" "0" "c.285G>A" "4/10" "p.(Trp95*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003520" "00000320" "55" "712" "0" "712" "0" "n.712A>T" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003520" "00000321" "55" "302" "0" "302" "0" "c.302A>T" "4/10" "p.(Asp101Val)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003520" "00000322" "55" "302" "0" "302" "0" "c.302A>T" "4/10" "p.(Asp101Val)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003520" "00000323" "55" "302" "0" "302" "0" "c.302A>T" "4/10" "p.(Asp101Val)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003520" "00000324" "55" "302" "0" "302" "0" "c.302A>T" "4/10" "p.(Asp101Val)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003523" "00000320" "55" "720" "0" "720" "0" "n.720T>G" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003523" "00000321" "55" "310" "0" "310" "0" "c.310T>G" "4/10" "p.(Phe104Val)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000003523" "00000322" "55" "310" "0" "310" "0" "c.310T>G" "4/10" "p.(Phe104Val)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000003523" "00000323" "55" "310" "0" "310" "0" "c.310T>G" "4/10" "p.(Phe104Val)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000003523" "00000324" "55" "310" "0" "310" "0" "c.310T>G" "4/10" "p.(Phe104Val)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000003524" "00000320" "77" "737" "0" "742" "0" "n.737_742del" "" "" "" "" "" "" "" "" "-" "0000003524" "00000321" "77" "327" "0" "332" "0" "c.327_332del" "" "p.(Ser110_His111del)" "r.(?)" "" "" "" "" "" "-" "0000003524" "00000322" "77" "327" "0" "332" "0" "c.327_332del" "" "p.(Ser110_His111del)" "r.(?)" "" "" "" "" "" "-" "0000003524" "00000323" "77" "327" "0" "332" "0" "c.327_332del" "" "p.(Ser110_His111del)" "r.(?)" "" "" "" "" "" "-" "0000003524" "00000324" "77" "327" "0" "332" "0" "c.327_332del" "" "p.(Ser110_His111del)" "r.(?)" "" "" "" "" "" "-" "0000003526" "00000320" "77" "747" "0" "749" "0" "n.747_749del" "" "" "" "" "" "" "" "" "-" "0000003526" "00000321" "77" "337" "0" "339" "0" "c.337_339del" "" "p.(Phe113del)" "r.(?)" "" "" "" "" "" "-" "0000003526" "00000322" "77" "337" "0" "339" "0" "c.337_339del" "" "p.(Phe113del)" "r.(?)" "" "" "" "" "" "-" "0000003526" "00000323" "77" "337" "0" "339" "0" "c.337_339del" "" "p.(Phe113del)" "r.(?)" "" "" "" "" "" "-" "0000003526" "00000324" "77" "337" "0" "339" "0" "c.337_339del" "" "p.(Phe113del)" "r.(?)" "" "" "" "" "" "-" "0000003527" "00000320" "55" "756" "0" "756" "0" "n.756G>C" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003527" "00000321" "55" "346" "0" "346" "0" "c.346G>C" "4/10" "p.(Gly116Arg)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003527" "00000322" "55" "346" "0" "346" "0" "c.346G>C" "4/10" "p.(Gly116Arg)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003527" "00000323" "55" "346" "0" "346" "0" "c.346G>C" "4/10" "p.(Gly116Arg)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003527" "00000324" "55" "346" "0" "346" "0" "c.346G>C" "4/10" "p.(Gly116Arg)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003528" "00000320" "55" "757" "0" "757" "0" "n.757G>A" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003528" "00000321" "55" "347" "0" "347" "0" "c.347G>A" "4/10" "p.(Gly116Asp)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003528" "00000322" "55" "347" "0" "347" "0" "c.347G>A" "4/10" "p.(Gly116Asp)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003528" "00000323" "55" "347" "0" "347" "0" "c.347G>A" "4/10" "p.(Gly116Asp)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003528" "00000324" "55" "347" "0" "347" "0" "c.347G>A" "4/10" "p.(Gly116Asp)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003529" "00000320" "55" "759" "0" "759" "0" "n.759A>G" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003529" "00000321" "55" "349" "0" "349" "0" "c.349A>G" "4/10" "p.(Lys117Glu)" "r.(?)" "benign(0.26)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003529" "00000322" "55" "349" "0" "349" "0" "c.349A>G" "4/10" "p.(Lys117Glu)" "r.(?)" "benign(0.26)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003529" "00000323" "55" "349" "0" "349" "0" "c.349A>G" "4/10" "p.(Lys117Glu)" "r.(?)" "benign(0.26)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003529" "00000324" "55" "349" "0" "349" "0" "c.349A>G" "4/10" "p.(Lys117Glu)" "r.(?)" "benign(0.26)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003531" "00000320" "55" "766" "0" "766" "0" "n.766T>G" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003531" "00000321" "55" "356" "0" "356" "0" "c.356T>G" "4/10" "p.(Val119Gly)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000003531" "00000322" "55" "356" "0" "356" "0" "c.356T>G" "4/10" "p.(Val119Gly)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000003531" "00000323" "55" "356" "0" "356" "0" "c.356T>G" "4/10" "p.(Val119Gly)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000003531" "00000324" "55" "356" "0" "356" "0" "c.356T>G" "4/10" "p.(Val119Gly)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000003532" "00000320" "55" "768" "0" "768" "0" "n.768C>A" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003532" "00000321" "55" "358" "0" "358" "0" "c.358C>A" "4/10" "p.(Pro120Thr)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000003532" "00000322" "55" "358" "0" "358" "0" "c.358C>A" "4/10" "p.(Pro120Thr)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000003532" "00000323" "55" "358" "0" "358" "0" "c.358C>A" "4/10" "p.(Pro120Thr)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000003532" "00000324" "55" "358" "0" "358" "0" "c.358C>A" "4/10" "p.(Pro120Thr)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000003533" "00000320" "55" "777" "0" "777" "0" "n.777C>T" "4/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003533" "00000321" "55" "367" "0" "367" "0" "c.367C>T" "4/10" "p.(Arg123*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003533" "00000322" "55" "367" "0" "367" "0" "c.367C>T" "4/10" "p.(Arg123*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003533" "00000323" "55" "367" "0" "367" "0" "c.367C>T" "4/10" "p.(Arg123*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003533" "00000324" "55" "367" "0" "367" "0" "c.367C>T" "4/10" "p.(Arg123*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003534" "00000320" "55" "780" "0" "780" "0" "n.780G>A" "4/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003534" "00000321" "55" "370" "0" "370" "0" "c.370G>A" "4/10" "p.(Gly124Arg)" "r.(?)" "possibly_damaging(0.85)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000003534" "00000322" "55" "370" "0" "370" "0" "c.370G>A" "4/10" "p.(Gly124Arg)" "r.(?)" "possibly_damaging(0.85)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000003534" "00000323" "55" "370" "0" "370" "0" "c.370G>A" "4/10" "p.(Gly124Arg)" "r.(?)" "possibly_damaging(0.85)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000003534" "00000324" "55" "370" "0" "370" "0" "c.370G>A" "4/10" "p.(Gly124Arg)" "r.(?)" "possibly_damaging(0.85)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000003535" "00000320" "55" "780" "0" "780" "0" "n.780G>C" "4/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003535" "00000321" "55" "370" "0" "370" "0" "c.370G>C" "4/10" "p.(Gly124Arg)" "r.(?)" "possibly_damaging(0.85)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000003535" "00000322" "55" "370" "0" "370" "0" "c.370G>C" "4/10" "p.(Gly124Arg)" "r.(?)" "possibly_damaging(0.85)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000003535" "00000323" "55" "370" "0" "370" "0" "c.370G>C" "4/10" "p.(Gly124Arg)" "r.(?)" "possibly_damaging(0.85)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000003535" "00000324" "55" "370" "0" "370" "0" "c.370G>C" "4/10" "p.(Gly124Arg)" "r.(?)" "possibly_damaging(0.85)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000003536" "00000320" "55" "780" "0" "780" "0" "n.780G>T" "4/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003536" "00000321" "55" "370" "0" "370" "0" "c.370G>T" "4/10" "p.(Gly124*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003536" "00000322" "55" "370" "0" "370" "0" "c.370G>T" "4/10" "p.(Gly124*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003536" "00000323" "55" "370" "0" "370" "0" "c.370G>T" "4/10" "p.(Gly124*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003536" "00000324" "55" "370" "0" "370" "0" "c.370G>T" "4/10" "p.(Gly124*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003537" "00000320" "55" "780" "532" "780" "532" "n.780+532A>G" "" "" "" "" "" "" "" "" "-" "0000003537" "00000321" "55" "371" "-2" "371" "-2" "c.371-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003537" "00000322" "55" "371" "-2" "371" "-2" "c.371-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003537" "00000323" "55" "370" "532" "370" "532" "c.370+532A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003537" "00000324" "55" "370" "532" "370" "532" "c.370+532A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003538" "00000320" "77" "798" "0" "798" "0" "n.798A>T" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003538" "00000321" "77" "478" "0" "478" "0" "c.478A>T" "6/10" "p.(Lys160*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003538" "00000322" "77" "478" "0" "478" "0" "c.478A>T" "6/10" "p.(Lys160*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003538" "00000323" "77" "388" "0" "388" "0" "c.388A>T" "5/9" "p.(Lys130*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003538" "00000324" "77" "388" "0" "388" "0" "c.388A>T" "5/9" "p.(Lys130*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003539" "00000320" "77" "798" "0" "798" "0" "n.798del" "" "" "" "" "" "" "" "" "-" "0000003539" "00000321" "77" "478" "0" "478" "0" "c.478del" "" "p.(Lys160Argfs*24)" "r.(?)" "" "" "" "" "" "-" "0000003539" "00000322" "77" "478" "0" "478" "0" "c.478del" "" "p.(Lys160Argfs*26)" "r.(?)" "" "" "" "" "" "-" "0000003539" "00000323" "77" "388" "0" "388" "0" "c.388del" "" "p.(Lys130Argfs*24)" "r.(?)" "" "" "" "" "" "-" "0000003539" "00000324" "77" "388" "0" "388" "0" "c.388del" "" "p.(Lys130Argfs*26)" "r.(?)" "" "" "" "" "" "-" "0000003540" "00000320" "77" "801" "0" "801" "0" "n.801G>A" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003540" "00000321" "77" "481" "0" "481" "0" "c.481G>A" "6/10" "p.(Gly161Arg)" "r.(?)" "probably_damaging(0.923)" "" "missense_variant" "" "" "deleterious(0)" "0000003540" "00000322" "77" "481" "0" "481" "0" "c.481G>A" "6/10" "p.(Gly161Arg)" "r.(?)" "probably_damaging(0.923)" "" "missense_variant" "" "" "deleterious(0)" "0000003540" "00000323" "77" "391" "0" "391" "0" "c.391G>A" "5/9" "p.(Gly131Arg)" "r.(?)" "probably_damaging(0.945)" "" "missense_variant" "" "" "deleterious(0)" "0000003540" "00000324" "77" "391" "0" "391" "0" "c.391G>A" "5/9" "p.(Gly131Arg)" "r.(?)" "probably_damaging(0.945)" "" "missense_variant" "" "" "deleterious(0)" "0000003541" "00000320" "55" "802" "0" "802" "0" "n.802G>A" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003541" "00000321" "55" "482" "0" "482" "0" "c.482G>A" "6/10" "p.(Gly161Glu)" "r.(?)" "benign(0.322)" "" "missense_variant" "" "" "deleterious(0)" "0000003541" "00000322" "55" "482" "0" "482" "0" "c.482G>A" "6/10" "p.(Gly161Glu)" "r.(?)" "benign(0.322)" "" "missense_variant" "" "" "deleterious(0)" "0000003541" "00000323" "55" "392" "0" "392" "0" "c.392G>A" "5/9" "p.(Gly131Glu)" "r.(?)" "benign(0.403)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003541" "00000324" "55" "392" "0" "392" "0" "c.392G>A" "5/9" "p.(Gly131Glu)" "r.(?)" "benign(0.403)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003542" "00000320" "77" "817" "0" "817" "0" "n.817T>A" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003542" "00000321" "77" "497" "0" "497" "0" "c.497T>A" "6/10" "p.(Leu166*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003542" "00000322" "77" "497" "0" "497" "0" "c.497T>A" "6/10" "p.(Leu166*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003542" "00000323" "77" "407" "0" "407" "0" "c.407T>A" "5/9" "p.(Leu136*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003542" "00000324" "77" "407" "0" "407" "0" "c.407T>A" "5/9" "p.(Leu136*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003543" "00000320" "55" "826" "0" "826" "0" "n.826T>A" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003543" "00000321" "55" "506" "0" "506" "0" "c.506T>A" "6/10" "p.(Leu169His)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000003543" "00000322" "55" "506" "0" "506" "0" "c.506T>A" "6/10" "p.(Leu169His)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000003543" "00000323" "55" "416" "0" "416" "0" "c.416T>A" "5/9" "p.(Leu139His)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000003543" "00000324" "55" "416" "0" "416" "0" "c.416T>A" "5/9" "p.(Leu139His)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000003544" "00000320" "55" "827" "0" "827" "0" "n.827C>T" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003544" "00000321" "55" "507" "0" "507" "0" "c.507C>T" "6/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000003544" "00000322" "55" "507" "0" "507" "0" "c.507C>T" "6/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000003544" "00000323" "55" "417" "0" "417" "0" "c.417C>T" "5/9" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000003544" "00000324" "55" "417" "0" "417" "0" "c.417C>T" "5/9" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000003545" "00000320" "77" "837" "0" "837" "0" "n.837del" "" "" "" "" "" "" "" "" "-" "0000003545" "00000321" "77" "517" "0" "517" "0" "c.517del" "" "p.(Asp173Thrfs*11)" "r.(?)" "" "" "" "" "" "-" "0000003545" "00000322" "77" "517" "0" "517" "0" "c.517del" "" "p.(Asp173Thrfs*13)" "r.(?)" "" "" "" "" "" "-" "0000003545" "00000323" "77" "427" "0" "427" "0" "c.427del" "" "p.(Asp143Thrfs*11)" "r.(?)" "" "" "" "" "" "-" "0000003545" "00000324" "77" "427" "0" "427" "0" "c.427del" "" "p.(Asp143Thrfs*13)" "r.(?)" "" "" "" "" "" "-" "0000003546" "00000320" "55" "840" "0" "840" "0" "n.840T>G" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003546" "00000321" "55" "520" "0" "520" "0" "c.520T>G" "6/10" "p.(Trp174Gly)" "r.(?)" "possibly_damaging(0.527)" "" "missense_variant" "" "" "deleterious(0)" "0000003546" "00000322" "55" "520" "0" "520" "0" "c.520T>G" "6/10" "p.(Trp174Gly)" "r.(?)" "possibly_damaging(0.527)" "" "missense_variant" "" "" "deleterious(0)" "0000003546" "00000323" "55" "430" "0" "430" "0" "c.430T>G" "5/9" "p.(Trp144Gly)" "r.(?)" "benign(0.041)" "" "missense_variant" "" "" "deleterious(0)" "0000003546" "00000324" "55" "430" "0" "430" "0" "c.430T>G" "5/9" "p.(Trp144Gly)" "r.(?)" "benign(0.041)" "" "missense_variant" "" "" "deleterious(0)" "0000003547" "00000320" "55" "850" "0" "850" "0" "n.850T>A" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003547" "00000321" "55" "530" "0" "530" "0" "c.530T>A" "6/10" "p.(Ile177Asn)" "r.(?)" "possibly_damaging(0.849)" "" "missense_variant" "" "" "deleterious(0)" "0000003547" "00000322" "55" "530" "0" "530" "0" "c.530T>A" "6/10" "p.(Ile177Asn)" "r.(?)" "possibly_damaging(0.849)" "" "missense_variant" "" "" "deleterious(0)" "0000003547" "00000323" "55" "440" "0" "440" "0" "c.440T>A" "5/9" "p.(Ile147Asn)" "r.(?)" "possibly_damaging(0.642)" "" "missense_variant" "" "" "deleterious(0)" "0000003547" "00000324" "55" "440" "0" "440" "0" "c.440T>A" "5/9" "p.(Ile147Asn)" "r.(?)" "possibly_damaging(0.642)" "" "missense_variant" "" "" "deleterious(0)" "0000003548" "00000320" "55" "850" "0" "850" "0" "n.850T>C" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003548" "00000321" "55" "530" "0" "530" "0" "c.530T>C" "6/10" "p.(Ile177Thr)" "r.(?)" "possibly_damaging(0.735)" "" "missense_variant" "" "" "deleterious(0)" "0000003548" "00000322" "55" "530" "0" "530" "0" "c.530T>C" "6/10" "p.(Ile177Thr)" "r.(?)" "possibly_damaging(0.735)" "" "missense_variant" "" "" "deleterious(0)" "0000003548" "00000323" "55" "440" "0" "440" "0" "c.440T>C" "5/9" "p.(Ile147Thr)" "r.(?)" "possibly_damaging(0.543)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003548" "00000324" "55" "440" "0" "440" "0" "c.440T>C" "5/9" "p.(Ile147Thr)" "r.(?)" "possibly_damaging(0.543)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003549" "00000320" "77" "852" "0" "852" "0" "n.852T>A" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003549" "00000321" "77" "532" "0" "532" "0" "c.532T>A" "6/10" "p.(Phe178Ile)" "r.(?)" "probably_damaging(0.915)" "" "missense_variant" "" "" "deleterious(0)" "0000003549" "00000322" "77" "532" "0" "532" "0" "c.532T>A" "6/10" "p.(Phe178Ile)" "r.(?)" "probably_damaging(0.915)" "" "missense_variant" "" "" "deleterious(0)" "0000003549" "00000323" "77" "442" "0" "442" "0" "c.442T>A" "5/9" "p.(Phe148Ile)" "r.(?)" "possibly_damaging(0.867)" "" "missense_variant" "" "" "deleterious(0)" "0000003549" "00000324" "77" "442" "0" "442" "0" "c.442T>A" "5/9" "p.(Phe148Ile)" "r.(?)" "possibly_damaging(0.867)" "" "missense_variant" "" "" "deleterious(0)" "0000003550" "00000320" "77" "852" "0" "852" "0" "n.852T>C" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003550" "00000321" "77" "532" "0" "532" "0" "c.532T>C" "6/10" "p.(Phe178Leu)" "r.(?)" "possibly_damaging(0.786)" "" "missense_variant" "" "" "deleterious(0)" "0000003550" "00000322" "77" "532" "0" "532" "0" "c.532T>C" "6/10" "p.(Phe178Leu)" "r.(?)" "possibly_damaging(0.786)" "" "missense_variant" "" "" "deleterious(0)" "0000003550" "00000323" "77" "442" "0" "442" "0" "c.442T>C" "5/9" "p.(Phe148Leu)" "r.(?)" "possibly_damaging(0.575)" "" "missense_variant" "" "" "deleterious(0)" "0000003550" "00000324" "77" "442" "0" "442" "0" "c.442T>C" "5/9" "p.(Phe148Leu)" "r.(?)" "possibly_damaging(0.575)" "" "missense_variant" "" "" "deleterious(0)" "0000003551" "00000320" "77" "855" "0" "855" "0" "n.855C>G" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003551" "00000321" "77" "535" "0" "535" "0" "c.535C>G" "6/10" "p.(Pro179Ala)" "r.(?)" "possibly_damaging(0.89)" "" "missense_variant" "" "" "deleterious(0)" "0000003551" "00000322" "77" "535" "0" "535" "0" "c.535C>G" "6/10" "p.(Pro179Ala)" "r.(?)" "possibly_damaging(0.89)" "" "missense_variant" "" "" "deleterious(0)" "0000003551" "00000323" "77" "445" "0" "445" "0" "c.445C>G" "5/9" "p.(Pro149Ala)" "r.(?)" "possibly_damaging(0.783)" "" "missense_variant" "" "" "deleterious(0.02)" "0000003551" "00000324" "77" "445" "0" "445" "0" "c.445C>G" "5/9" "p.(Pro149Ala)" "r.(?)" "possibly_damaging(0.783)" "" "missense_variant" "" "" "deleterious(0.02)" "0000003552" "00000320" "55" "856" "0" "856" "0" "n.856C>T" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003552" "00000321" "55" "536" "0" "536" "0" "c.536C>T" "6/10" "p.(Pro179Leu)" "r.(?)" "possibly_damaging(0.675)" "" "missense_variant" "" "" "deleterious(0)" "0000003552" "00000322" "55" "536" "0" "536" "0" "c.536C>T" "6/10" "p.(Pro179Leu)" "r.(?)" "possibly_damaging(0.675)" "" "missense_variant" "" "" "deleterious(0)" "0000003552" "00000323" "55" "446" "0" "446" "0" "c.446C>T" "5/9" "p.(Pro149Leu)" "r.(?)" "benign(0.248)" "" "missense_variant" "" "" "deleterious(0)" "0000003552" "00000324" "55" "446" "0" "446" "0" "c.446C>T" "5/9" "p.(Pro149Leu)" "r.(?)" 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"benign(0.012)" "" "missense_variant" "" "" "tolerated(0.23)" "0000003558" "00000324" "55" "451" "93" "451" "93" "c.451+93A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003559" "00000320" "55" "882" "0" "882" "0" "n.882G>A" "6/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003559" "00000321" "55" "562" "0" "562" "0" "c.562G>A" "7/11" "p.(Glu188Lys)" "r.(?)" "benign(0.169)" "" "missense_variant" "" "" "deleterious(0.04)" "0000003559" "00000322" "55" "541" "102" "541" "102" "c.541+102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003559" "00000323" "55" "472" "0" "472" "0" "c.472G>A" "6/10" "p.(Glu158Lys)" "r.(?)" 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"-" "" "stop_gained" "" "" "-" "0000003560" "00000324" "55" "451" "102" "451" "102" "c.451+102G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003561" "00000320" "77" "901" "0" "901" "0" "n.901G>A" "6/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003561" "00000321" "77" "581" "0" "581" "0" "c.581G>A" "7/11" "p.(Trp194*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003561" "00000322" "77" "541" "121" "541" "121" "c.541+121G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003561" "00000323" "77" "491" "0" "491" "0" "c.491G>A" "6/10" "p.(Trp164*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003561" "00000324" "77" "451" "121" "451" "121" "c.451+121G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003562" "00000320" "77" "901" "0" "902" "0" "n.901_902insT" "6/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003562" "00000321" "77" "581" "0" "582" "0" "c.581_582insT" "7/11" "p.(Trp194Cysfs*9)" "r.(?)" "-" "" "frameshift_variant,splice_region_variant" "" "" "-" "0000003562" "00000322" "77" "541" "121" "541" "122" "c.541+121_541+122insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003562" "00000323" "77" "491" "0" "492" "0" "c.491_492insT" "6/10" "p.(Trp164Cysfs*9)" "r.(?)" "-" "" "frameshift_variant,splice_region_variant" "" "" "-" "0000003562" "00000324" "77" "451" "121" "451" "122" "c.451+121_451+122insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003563" "00000320" "55" "902" "0" "902" "0" "n.902G>T" "6/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003563" "00000321" "55" "582" "0" "582" "0" "c.582G>T" "7/11" "p.(Trp194Cys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003563" "00000322" "55" "541" "122" "541" "122" "c.541+122G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003563" "00000323" "55" "492" "0" "492" "0" "c.492G>T" "6/10" "p.(Trp164Cys)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003563" "00000324" "55" "451" "122" "451" "122" "c.451+122G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003564" "00000320" "55" "903" "0" "903" "0" "n.903G>A" "6/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003564" "00000321" "55" "583" "0" "583" "0" "c.583G>A" "7/11" "p.(Gly195Arg)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003564" "00000322" "55" "541" "123" "541" "123" "c.541+123G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003564" "00000323" "55" "493" "0" "493" "0" "c.493G>A" "6/10" "p.(Gly165Arg)" "r.(?)" "probably_damaging(0.941)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003564" "00000324" "55" "451" "123" "451" "123" "c.451+123G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003565" "00000320" "55" "903" "0" "903" "0" "n.903G>T" "6/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003565" "00000321" "55" "583" "0" "583" "0" "c.583G>T" "7/11" "p.(Gly195*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003565" "00000322" "55" "541" "123" "541" "123" "c.541+123G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003565" "00000323" "55" "493" "0" "493" "0" "c.493G>T" "6/10" "p.(Gly165*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003565" "00000324" "55" "451" "123" "451" "123" "c.451+123G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003566" "00000320" "77" "903" "1" "903" "1" "n.903+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant,non_coding_transcript_variant" "" "" "-" "0000003566" "00000321" "77" "583" "1" "583" "1" "c.583+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003566" "00000322" "77" "541" "124" "541" "124" "c.541+124G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003566" "00000323" "77" "493" "1" "493" "1" "c.493+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003566" "00000324" "77" "451" "124" "451" "124" "c.451+124G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003567" "00000320" "77" "903" "2" "903" "2" "n.903+2T>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant,non_coding_transcript_variant" "" "" "-" "0000003567" "00000321" "77" "583" "2" "583" "2" "c.583+2T>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003567" "00000322" "77" "541" "125" "541" "125" "c.541+125T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003567" "00000323" "77" "493" "2" "493" "2" "c.493+2T>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003567" "00000324" "77" "451" "125" "451" "125" "c.451+125T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003568" "00000320" "77" "903" "5" "903" "5" "n.903+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003568" "00000321" "77" "583" "5" "583" "5" "c.583+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003568" "00000322" "77" "541" "128" "541" "128" "c.541+128G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003568" "00000323" "77" "493" "5" "493" "5" "c.493+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003568" "00000324" "77" "451" "128" "451" "128" "c.451+128G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003569" "00000320" "55" "904" "0" "904" "0" "n.904G>T" "7/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003569" "00000321" "55" "584" "0" "584" "0" "c.584G>T" "8/11" "p.(Gly195Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003569" "00000322" "55" "542" "0" "542" "0" "c.542G>T" "7/10" "p.(Gly181Val)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003569" "00000323" "55" "494" "0" "494" "0" "c.494G>T" "7/10" "p.(Gly165Val)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003569" "00000324" "55" "452" "0" "452" "0" "c.452G>T" "6/9" "p.(Gly151Val)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003571" "00000320" "55" "909" "0" "909" "0" "n.909G>T" "7/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003571" "00000321" "55" "589" "0" "589" "0" "c.589G>T" "8/11" "p.(Gly197Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000003571" "00000322" "55" "547" "0" "547" "0" "c.547G>T" "7/10" "p.(Gly183Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000003571" "00000323" "55" "499" "0" "499" "0" "c.499G>T" "7/10" "p.(Gly167Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000003571" "00000324" "55" "457" "0" "457" "0" "c.457G>T" "6/9" "p.(Gly153Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000003573" "00000320" "55" "910" "0" "910" "0" "n.910G>T" "7/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003573" "00000321" "55" "590" "0" "590" "0" "c.590G>T" "8/11" "p.(Gly197Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000003573" "00000322" "55" "548" "0" "548" "0" "c.548G>T" "7/10" "p.(Gly183Val)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0.03)" "0000003573" "00000323" "55" "500" "0" "500" "0" "c.500G>T" "7/10" "p.(Gly167Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000003573" "00000324" "55" "458" "0" "458" "0" "c.458G>T" "6/9" "p.(Gly153Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0.03)" "0000003574" "00000320" "55" "913" "0" "913" "0" "n.913G>A" "7/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003574" "00000321" "55" "593" "0" "593" "0" "c.593G>A" "8/11" "p.(Arg198His)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000003574" "00000322" "55" "551" "0" "551" "0" "c.551G>A" "7/10" "p.(Arg184His)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003574" "00000323" "55" "503" "0" "503" "0" "c.503G>A" "7/10" "p.(Arg168His)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003574" "00000324" "55" "461" "0" "461" "0" "c.461G>A" "6/9" "p.(Arg154His)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0)" "0000003575" "00000320" "77" "923" "0" "925" "0" "n.923_925del" "" "" "" "" "" "" "" "" "-" "0000003575" "00000321" "77" "603" "0" "605" "0" "c.603_605del" "" "p.(Glu202del)" "r.(?)" "" "" "" "" "" "-" "0000003575" "00000322" "77" "561" "0" "563" "0" "c.561_563del" "" "p.(Glu188del)" "r.(?)" "" "" "" "" "" "-" "0000003575" "00000323" "77" "513" "0" "515" "0" "c.513_515del" "" "p.(Glu172del)" "r.(?)" "" "" "" "" "" "-" "0000003575" "00000324" "77" "471" "0" "473" "0" "c.471_473del" "" "p.(Glu158del)" "r.(?)" "" "" "" "" "" "-" "0000003576" "00000320" "77" "925" "0" "928" "0" "n.925_928del" "" "" "" "" "" "" "" "" "-" "0000003576" "00000321" "77" "605" "0" "608" "0" "c.605_608del" "" "p.(Glu202Valfs*15)" "r.(?)" "" "" "" "" "" "-" "0000003576" "00000322" "77" "563" "0" "566" "0" "c.563_566del" "" "p.(Glu188Valfs*15)" "r.(?)" "" "" "" "" "" "-" "0000003576" "00000323" "77" "515" "0" "518" "0" "c.515_518del" "" "p.(Glu172Valfs*15)" "r.(?)" "" "" "" "" "" "-" "0000003576" "00000324" "77" "473" "0" "476" "0" "c.473_476del" "" "p.(Glu158Valfs*15)" "r.(?)" "" "" "" "" "" "-" "0000003577" "00000320" "55" "946" "0" "946" "0" "n.946T>A" "7/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003577" "00000321" "55" "626" "0" "626" "0" "c.626T>A" "8/11" "p.(Ile209Asn)" "r.(?)" "probably_damaging(0.948)" "" "missense_variant" "" "" "deleterious(0)" "0000003577" "00000322" "55" "584" "0" "584" "0" "c.584T>A" "7/10" "p.(Ile195Asn)" "r.(?)" "possibly_damaging(0.849)" "" "missense_variant" "" "" "deleterious(0)" "0000003577" "00000323" "55" "536" "0" "536" "0" "c.536T>A" "7/10" "p.(Ile179Asn)" "r.(?)" "probably_damaging(0.952)" "" "missense_variant" "" "" "deleterious(0)" "0000003577" "00000324" "55" "494" "0" "494" "0" "c.494T>A" "6/9" "p.(Ile165Asn)" "r.(?)" "possibly_damaging(0.8)" "" "missense_variant" "" "" "deleterious(0)" "0000003578" "00000320" "55" "949" "0" "949" "0" "n.949T>G" "7/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003578" "00000321" "55" "629" "0" "629" "0" "c.629T>G" "8/11" "p.(Leu210Arg)" "r.(?)" "probably_damaging(0.987)" "" "missense_variant" "" "" "deleterious(0)" "0000003578" "00000322" "55" "587" "0" "587" "0" "c.587T>G" "7/10" "p.(Leu196Arg)" "r.(?)" "possibly_damaging(0.767)" "" "missense_variant" "" "" "deleterious(0.04)" "0000003578" "00000323" "55" "539" "0" "539" "0" "c.539T>G" "7/10" "p.(Leu180Arg)" "r.(?)" "possibly_damaging(0.782)" "" "missense_variant" "" "" "deleterious(0)" "0000003578" "00000324" "55" "497" "0" "497" "0" "c.497T>G" "6/9" "p.(Leu166Arg)" "r.(?)" "possibly_damaging(0.615)" "" "missense_variant" "" "" "tolerated(0.05)" "0000003579" "00000320" "77" "954" "0" "954" "0" "n.954del" "" "" "" "" "" "" "" "" "-" "0000003579" "00000321" "77" "634" "0" "634" "0" "c.634del" "" "p.(Leu212Cysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000003579" "00000322" "77" "592" "0" "592" "0" "c.592del" "" "p.(Leu198Cysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000003579" "00000323" "77" "544" "0" "544" "0" "c.544del" "" "p.(Leu182Cysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000003579" "00000324" "77" "502" "0" "502" "0" "c.502del" "" "p.(Leu168Cysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000003580" "00000320" "55" "955" "0" "955" "0" "n.955T>C" "7/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003580" "00000321" "55" "635" "0" "635" "0" "c.635T>C" "8/11" "p.(Leu212Pro)" "r.(?)" "probably_damaging(0.961)" "" "missense_variant" "" "" "deleterious(0)" "0000003580" "00000322" "55" "593" "0" "593" "0" "c.593T>C" "7/10" "p.(Leu198Pro)" "r.(?)" "probably_damaging(0.964)" "" "missense_variant" "" "" "deleterious(0)" "0000003580" "00000323" "55" "545" "0" "545" "0" "c.545T>C" "7/10" "p.(Leu182Pro)" "r.(?)" "possibly_damaging(0.891)" "" "missense_variant" "" "" "deleterious(0)" "0000003580" "00000324" "55" "503" "0" "503" "0" "c.503T>C" "6/9" "p.(Leu168Pro)" "r.(?)" "probably_damaging(0.959)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003581" "00000320" "55" "961" "0" "961" "0" "n.961A>G" "7/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003581" "00000321" "55" "641" "0" "641" "0" "c.641A>G" "8/11" "p.(His214Arg)" "r.(?)" "probably_damaging(0.93)" "" "missense_variant" "" "" "deleterious(0)" "0000003581" "00000322" "55" "599" "0" "599" "0" "c.599A>G" "7/10" "p.(His200Arg)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000003581" "00000323" "55" "551" "0" "551" "0" "c.551A>G" "7/10" "p.(His184Arg)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0.01)" "0000003581" "00000324" "55" "509" "0" "509" "0" "c.509A>G" "6/9" "p.(His170Arg)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000003582" "00000320" "77" "966" "0" "966" "0" "n.966del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003582" "00000321" "77" "646" "0" "646" "0" "c.646del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003582" "00000322" "77" "604" "0" "604" "0" "c.604del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003582" "00000323" "77" "556" "0" "556" "0" "c.556del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003582" "00000324" "77" "514" "0" "514" "0" "c.514del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003583" "00000320" "55" "966" "0" "966" "0" "n.966G>A" "7/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003583" "00000321" "55" "646" "0" "646" "0" "c.646G>A" "8/11" "p.(Gly216Arg)" "r.(?)" "probably_damaging(0.978)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003583" "00000322" "55" "604" "0" "604" "0" "c.604G>A" "7/10" "p.(Gly202Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003583" "00000323" "55" "556" "0" "556" "0" "c.556G>A" "7/10" "p.(Gly186Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003583" "00000324" "55" "514" "0" "514" "0" "c.514G>A" "6/9" "p.(Gly172Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003584" "00000320" "55" "966" "0" "966" "0" "n.966G>C" "7/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003584" "00000321" "55" "646" "0" "646" "0" "c.646G>C" "8/11" "p.(Gly216Arg)" "r.(?)" "probably_damaging(0.978)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003584" "00000322" "55" "604" "0" "604" "0" "c.604G>C" "7/10" "p.(Gly202Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003584" "00000323" "55" "556" "0" "556" "0" "c.556G>C" "7/10" "p.(Gly186Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003584" "00000324" "55" "514" "0" "514" "0" "c.514G>C" "6/9" "p.(Gly172Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003586" "00000320" "55" "967" "0" "967" "0" "n.967G>T" "8/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003586" "00000321" "55" "647" "0" "647" "0" "c.647G>T" "9/11" "p.(Gly216Val)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003586" "00000322" "55" "605" "0" "605" "0" "c.605G>T" "8/10" "p.(Gly202Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003586" "00000323" "55" "557" "0" "557" "0" "c.557G>T" "8/10" "p.(Gly186Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003586" "00000324" "55" "515" "0" "515" "0" "c.515G>T" "7/9" "p.(Gly172Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000003587" "00000320" "77" "975" "0" "976" "0" "n.975_976insGAAT" "8/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003587" "00000321" "77" "655" "0" "656" "0" "c.655_656insGAAT" "9/11" "p.(Asp219Glyfs*6)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003587" "00000322" "77" "613" "0" "614" "0" "c.613_614insGAAT" "8/10" "p.(Asp205Glyfs*6)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003587" "00000323" "77" "565" "0" "566" "0" "c.565_566insGAAT" "8/10" "p.(Asp189Glyfs*6)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003587" "00000324" "77" "523" "0" "524" "0" "c.523_524insGAAT" "7/9" "p.(Asp175Glyfs*6)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003588" "00000320" "77" "981" "0" "982" "0" "n.981_982insGTCC" "" "" "" "" "" "" "" "" "-" "0000003588" "00000321" "77" "661" "0" "662" "0" "c.661_662insGTCC" "" "p.(Leu221Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000003588" "00000322" "77" "619" "0" "620" "0" "c.619_620insGTCC" "" "p.(Leu207Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000003588" "00000323" "77" "571" "0" "572" "0" "c.571_572insGTCC" "" "p.(Leu191Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000003588" "00000324" "77" "529" "0" "530" "0" "c.529_530insGTCC" "" "p.(Leu177Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000003589" "00000320" "77" "998" "0" "1011" "0" "n.998_1011del" "" "" "" "" "" "" "" "" "-" "0000003589" "00000321" "77" "678" "0" "691" "0" "c.678_691del" "" "p.(Tyr227Trpfs*79)" "r.(?)" "" "" "" "" "" "-" "0000003589" "00000322" "77" "636" "0" "649" "0" "c.636_649del" "" "p.(Tyr213Trpfs*79)" "r.(?)" "" "" "" "" "" "-" "0000003589" "00000323" "77" "588" "0" "601" "0" "c.588_601del" "" "p.(Tyr197Trpfs*79)" "r.(?)" "" "" "" "" "" "-" "0000003589" "00000324" "77" "546" "0" "559" "0" "c.546_559del" "" "p.(Tyr183Trpfs*79)" "r.(?)" "" "" "" "" "" "-" "0000003590" "00000320" "77" "1006" "0" "1010" "0" "n.1006_1010del" "" "" "" "" "" "" "" "" "-" "0000003590" "00000321" "77" "686" "0" "690" "0" "c.686_690del" "" "p.(Pro229Leufs*80)" "r.(?)" "" "" "" "" "" "-" "0000003590" "00000322" "77" "644" "0" "648" "0" "c.644_648del" "" "p.(Pro215Leufs*80)" "r.(?)" "" "" "" "" "" "-" "0000003590" "00000323" "77" "596" "0" "600" "0" "c.596_600del" "" "p.(Pro199Leufs*80)" "r.(?)" "" "" "" "" "" "-" "0000003590" "00000324" "77" "554" "0" "558" "0" "c.554_558del" "" "p.(Pro185Leufs*80)" "r.(?)" "" "" "" "" "" "-" "0000003591" "00000320" "77" "1008" "0" "1008" "0" "n.1008del" "" "" "" "" "" "" "" "" "-" "0000003591" "00000321" "77" "688" "0" "688" "0" "c.688del" "" "p.(Arg230Alafs*9)" "r.(?)" "" "" "" "" "" "-" "0000003591" "00000322" "77" "646" "0" "646" "0" "c.646del" "" "p.(Arg216Alafs*9)" "r.(?)" "" "" "" "" "" "-" "0000003591" "00000323" "77" "598" "0" "598" "0" "c.598del" "" "p.(Arg200Alafs*9)" "r.(?)" "" "" "" "" "" "-" "0000003591" "00000324" "77" "556" "0" "556" "0" "c.556del" "" "p.(Arg186Alafs*9)" "r.(?)" "" "" "" "" "" "-" "0000003592" "00000320" "55" "1014" "0" "1014" "0" "n.1014G>T" "8/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003592" "00000321" "55" "694" "0" "694" "0" "c.694G>T" "9/11" "p.(Gly232*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003592" "00000322" "55" "652" "0" "652" "0" "c.652G>T" "8/10" "p.(Gly218*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003592" "00000323" "55" "604" "0" "604" "0" "c.604G>T" "8/10" "p.(Gly202*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003592" "00000324" "55" "562" "0" "562" "0" "c.562G>T" "7/9" "p.(Gly188*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003593" "00000320" "55" "1017" "0" "1017" "0" "n.1017C>T" "8/10" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003593" "00000321" "55" "697" "0" "697" "0" "c.697C>T" "9/11" "p.(Gln233*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003593" "00000322" "55" "655" "0" "655" "0" "c.655C>T" "8/10" "p.(Gln219*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003593" "00000323" "55" "607" "0" "607" "0" "c.607C>T" "8/10" "p.(Gln203*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003593" "00000324" "55" "565" "0" "565" "0" "c.565C>T" "7/9" "p.(Gln189*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000003594" "00000320" "55" "1019" "1" "1019" "1" "n.1019+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant,non_coding_transcript_variant" "" "" "-" "0000003594" "00000321" "55" "699" "1" "699" "1" "c.699+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003594" "00000322" "55" "657" "1" "657" "1" "c.657+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003594" "00000323" "55" "609" "1" "609" "1" "c.609+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003594" "00000324" "55" "567" "1" "567" "1" "c.567+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003595" "00000320" "55" "1020" "-2" "1020" "-2" "n.1020-2A>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000003595" "00000321" "55" "700" "-2" "700" "-2" "c.700-2A>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003595" "00000322" "55" "658" "-2" "658" "-2" "c.658-2A>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003595" "00000323" "55" "610" "-2" "610" "-2" "c.610-2A>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003595" "00000324" "55" "568" "-2" "568" "-2" "c.568-2A>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003596" "00000320" "77" "1020" "-1" "1020" "-1" "n.1020-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000003596" "00000321" "77" "700" "-1" "700" "-1" "c.700-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003596" "00000322" "77" "658" "-1" "658" "-1" "c.658-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003596" "00000323" "77" "610" "-1" "610" "-1" "c.610-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003596" "00000324" "77" "568" "-1" "568" "-1" "c.568-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003597" "00000320" "00" "1023" "0" "1024" "0" "n.1023_1024insAT" "9/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003597" "00000321" "00" "703" "0" "704" "0" "c.703_704insAT" "10/11" "p.(Ile235Asnfs*5)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003597" "00000322" "00" "661" "0" "662" "0" "c.661_662insAT" "9/10" "p.(Ile221Asnfs*5)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003597" "00000323" "00" "613" "0" "614" "0" "c.613_614insAT" "9/10" "p.(Ile205Asnfs*5)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003597" "00000324" "00" "571" "0" "572" "0" "c.571_572insAT" "8/9" "p.(Ile191Asnfs*5)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003598" "00000320" "77" "1030" "0" "1031" "0" "n.1030_1031del" "" "" "" "" "" "" "" "" "-" "0000003598" "00000321" "77" "710" "0" "711" "0" "c.710_711del" "" "p.(Val237Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000003598" "00000322" "77" "668" "0" "669" "0" "c.668_669del" "" "p.(Val223Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000003598" "00000323" "77" "620" "0" "621" "0" "c.620_621del" "" "p.(Val207Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000003598" "00000324" "77" "578" "0" "579" "0" "c.578_579del" "" "p.(Val193Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000003601" "00000320" "77" "1055" "0" "1056" "0" "n.1055_1056insCCCT" "9/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003601" "00000321" "77" "735" "0" "736" "0" "c.735_736insCCCT" "10/11" "p.(Leu246Profs*66)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003601" "00000322" "77" "693" "0" "694" "0" "c.693_694insCCCT" "9/10" "p.(Leu232Profs*66)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003601" "00000323" "77" "645" "0" "646" "0" "c.645_646insCCCT" "9/10" "p.(Leu216Profs*66)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003601" "00000324" "77" "603" "0" "604" "0" "c.603_604insCCCT" "8/9" "p.(Leu202Profs*66)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003602" "00000320" "00" "1058" "0" "1059" "0" "n.1058_1059insGC" "9/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003602" "00000321" "00" "738" "0" "739" "0" "c.738_739insGC" "10/11" "p.(Pro247Alafs*21)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003602" "00000322" "00" "696" "0" "697" "0" "c.696_697insGC" "9/10" "p.(Pro233Alafs*21)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003602" "00000323" "00" "648" "0" "649" "0" "c.648_649insGC" "9/10" "p.(Pro217Alafs*21)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003602" "00000324" "00" "606" "0" "607" "0" "c.606_607insGC" "8/9" "p.(Pro203Alafs*21)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003603" "00000320" "55" "1068" "0" "1068" "0" "n.1068G>T" "9/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003603" "00000321" "55" "748" "0" "748" "0" "c.748G>T" "10/11" "p.(Glu250*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003603" "00000322" "55" "706" "0" "706" "0" "c.706G>T" "9/10" "p.(Glu236*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003603" "00000323" "55" "658" "0" "658" "0" "c.658G>T" "9/10" "p.(Glu220*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003603" "00000324" "55" "616" "0" "616" "0" "c.616G>T" "8/9" "p.(Glu206*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003604" "00000320" "00" "1068" "0" "1069" "0" "n.1068_1069del" "" "" "" "" "" "" "" "" "-" "0000003604" "00000321" "00" "748" "0" "749" "0" "c.748_749del" "" "p.(Glu250Alafs*60)" "r.(?)" "" "" "" "" "" "-" "0000003604" "00000322" "00" "706" "0" "707" "0" "c.706_707del" "" "p.(Glu236Alafs*60)" "r.(?)" "" "" "" "" "" "-" "0000003604" "00000323" "00" "658" "0" "659" "0" "c.658_659del" "" "p.(Glu220Alafs*60)" "r.(?)" "" "" "" "" "" "-" "0000003604" "00000324" "00" "616" "0" "617" "0" "c.616_617del" "" "p.(Glu206Alafs*60)" "r.(?)" "" "" "" "" "" "-" "0000003605" "00000320" "55" "1072" "0" "1072" "0" "n.1072G>T" "9/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003605" "00000321" "55" "752" "0" "752" "0" "c.752G>T" "10/11" "p.(Arg251Leu)" "r.(?)" "benign(0.081)" "" "missense_variant" "" "" "tolerated(0.18)" "0000003605" "00000322" "55" "710" "0" "710" "0" "c.710G>T" "9/10" "p.(Arg237Leu)" "r.(?)" "benign(0.168)" "" "missense_variant" "" "" "tolerated(0.17)" "0000003605" "00000323" "55" "662" "0" "662" "0" "c.662G>T" "9/10" "p.(Arg221Leu)" "r.(?)" "benign(0.068)" "" "missense_variant" "" "" "tolerated(0.15)" "0000003605" "00000324" "55" "620" "0" "620" "0" "c.620G>T" "8/9" "p.(Arg207Leu)" "r.(?)" "benign(0.068)" "" "missense_variant" "" "" "tolerated(0.16)" "0000003606" "00000320" "55" "1093" "0" "1093" "0" "n.1093C>A" "9/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003606" "00000321" "55" "773" "0" "773" "0" "c.773C>A" "10/11" "p.(Ser258*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003606" "00000322" "55" "731" "0" "731" "0" "c.731C>A" "9/10" "p.(Ser244*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003606" "00000323" "55" "683" "0" "683" "0" "c.683C>A" "9/10" "p.(Ser228*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003606" "00000324" "55" "641" "0" "641" "0" "c.641C>A" "8/9" "p.(Ser214*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003607" "00000320" "55" "1097" "1" "1097" "1" "n.1097+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant,non_coding_transcript_variant" "" "" "-" "0000003607" "00000321" "55" "777" "1" "777" "1" "c.777+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003607" "00000322" "55" "735" "1" "735" "1" "c.735+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003607" "00000323" "55" "687" "1" "687" "1" "c.687+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003607" "00000324" "55" "645" "1" "645" "1" "c.645+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003608" "00000320" "55" "1097" "2" "1097" "2" "n.1097+2T>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant,non_coding_transcript_variant" "" "" "-" "0000003608" "00000321" "55" "777" "2" "777" "2" "c.777+2T>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003608" "00000322" "55" "735" "2" "735" "2" "c.735+2T>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003608" "00000323" "55" "687" "2" "687" "2" "c.687+2T>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003608" "00000324" "55" "645" "2" "645" "2" "c.645+2T>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000003609" "00000320" "77" "1098" "-2" "1098" "-2" "n.1098-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000003609" "00000321" "77" "778" "-2" "778" "-2" "c.778-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003609" "00000322" "77" "736" "-2" "736" "-2" "c.736-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003609" "00000323" "77" "688" "-2" "688" "-2" "c.688-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003609" "00000324" "77" "646" "-2" "646" "-2" "c.646-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003610" "00000320" "77" "1098" "-1" "1098" "-1" "n.1098-1G>T" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000003610" "00000321" "77" "778" "-1" "778" "-1" "c.778-1G>T" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003610" "00000322" "77" "736" "-1" "736" "-1" "c.736-1G>T" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003610" "00000323" "77" "688" "-1" "688" "-1" "c.688-1G>T" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003610" "00000324" "77" "646" "-1" "646" "-1" "c.646-1G>T" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000003611" "00000320" "55" "1101" "0" "1101" "0" "n.1101G>T" "10/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003611" "00000321" "55" "781" "0" "781" "0" "c.781G>T" "11/11" "p.(Glu261*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003611" "00000322" "55" "739" "0" "739" "0" "c.739G>T" "10/10" "p.(Glu247*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003611" "00000323" "55" "691" "0" "691" "0" "c.691G>T" "10/10" "p.(Glu231*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003611" "00000324" "55" "649" "0" "649" "0" "c.649G>T" "9/9" "p.(Glu217*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003612" "00000320" "77" "1143" "0" "1143" "0" "n.1143C>T" "10/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003612" "00000321" "77" "823" "0" "823" "0" "c.823C>T" "11/11" "p.(Gln275*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003612" "00000322" "77" "781" "0" "781" "0" "c.781C>T" "10/10" "p.(Gln261*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003612" "00000323" "77" "733" "0" "733" "0" "c.733C>T" "10/10" "p.(Gln245*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003612" "00000324" "77" "691" "0" "691" "0" "c.691C>T" "9/9" "p.(Gln231*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000003613" "00000320" "55" "1146" "0" "1146" "0" "n.1146C>T" "10/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003613" "00000321" "55" "826" "0" "826" "0" "c.826C>T" "11/11" "p.(His276Tyr)" "r.(?)" "benign(0.007)" "" "missense_variant" "" "" "deleterious(0.04)" "0000003613" "00000322" "55" "784" "0" "784" "0" "c.784C>T" "10/10" "p.(His262Tyr)" "r.(?)" "benign(0.017)" "" "missense_variant" "" "" "deleterious(0.04)" "0000003613" "00000323" "55" "736" "0" "736" "0" "c.736C>T" "10/10" "p.(His246Tyr)" "r.(?)" "benign(0.013)" "" "missense_variant" "" "" "deleterious(0.03)" "0000003613" "00000324" "55" "694" "0" "694" "0" "c.694C>T" "9/9" "p.(His232Tyr)" "r.(?)" "benign(0.005)" "" "missense_variant" "" "" "deleterious(0.03)" "0000003614" "00000320" "77" "1157" "0" "1158" "0" "n.1157_1158del" "" "" "" "" "" "" "" "" "-" "0000003614" "00000321" "77" "837" "0" "838" "0" "c.837_838del" "" "p.(Gln280Glyfs*30)" "r.(?)" "" "" "" "" "" "-" "0000003614" "00000322" "77" "795" "0" "796" "0" "c.795_796del" "" "p.(Gln266Glyfs*30)" "r.(?)" "" "" "" "" "" "-" "0000003614" "00000323" "77" "747" "0" "748" "0" "c.747_748del" "" "p.(Gln250Glyfs*30)" "r.(?)" "" "" "" "" "" "-" "0000003614" "00000324" "77" "705" "0" "706" "0" "c.705_706del" "" "p.(Gln236Glyfs*30)" "r.(?)" "" "" "" "" "" "-" "0000003615" "00000320" "77" "1193" "0" "1193" "0" "n.1193del" "" "" "" "" "" "" "" "" "-" "0000003615" "00000321" "77" "873" "0" "873" "0" "c.873del" "" "p.(Arg292Aspfs*47)" "r.(?)" "" "" "" "" "" "-" "0000003615" "00000322" "77" "831" "0" "831" "0" "c.831del" "" "p.(Arg278Aspfs*47)" "r.(?)" "" "" "" "" "" "-" "0000003615" "00000323" "77" "783" "0" "783" "0" "c.783del" "" "p.(Arg262Aspfs*47)" "r.(?)" "" "" "" "" "" "-" "0000003615" "00000324" "77" "741" "0" "741" "0" "c.741del" "" "p.(Arg248Aspfs*47)" "r.(?)" "" "" "" "" "" "-" "0000003616" "00000320" "77" "1194" "0" "1195" "0" "n.1194_1195insCCTGG" "10/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000003616" "00000321" "77" "874" "0" "875" "0" "c.874_875insCCTGG" "11/11" "p.(Arg292Thrfs*49)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003616" "00000322" "77" "832" "0" "833" "0" "c.832_833insCCTGG" "10/10" "p.(Arg278Thrfs*49)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003616" "00000323" "77" "784" "0" "785" "0" "c.784_785insCCTGG" "10/10" "p.(Arg262Thrfs*49)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003616" "00000324" "77" "742" "0" "743" "0" "c.742_743insCCTGG" "9/9" "p.(Arg248Thrfs*49)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000005258" "00000320" "00" "305" "0" "305" "0" "n.305del" "" "" "" "" "" "" "" "" "-" "0000005258" "00000321" "00" "1" "0" "1" "0" "c.1del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000005258" "00000322" "00" "1" "0" "1" "0" "c.1del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000005258" "00000323" "00" "1" "0" "1" "0" "c.1del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000005258" "00000324" "00" "1" "0" "1" "0" "c.1del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000005259" "00000320" "00" "543" "0" "543" "0" "n.543del" "" "" "" "" "" "" "" "" "-" "0000005259" "00000321" "00" "239" "0" "239" "0" "c.239del" "" "p.(Ile81Serfs*2)" "r.(?)" "" "" "" "" "" "-" "0000005259" "00000322" "00" "239" "0" "239" "0" "c.239del" "" "p.(Ile81Serfs*2)" "r.(?)" "" "" "" "" "" "-" "0000005259" "00000323" "00" "239" "0" "239" "0" "c.239del" "" "p.(Ile81Serfs*2)" "r.(?)" "" "" "" "" "" "-" "0000005259" "00000324" "00" "239" "0" "239" "0" "c.239del" "" "p.(Ile81Serfs*2)" "r.(?)" "" "" "" "" "" "-" "0000005260" "00000320" "00" "781" "0" "781" "0" "n.781del" "" "" "" "" "" "" "" "" "-" "0000005260" "00000321" "00" "461" "0" "461" "0" "c.461del" "" "p.(Gly154Glufs*30)" "r.(?)" "" "" "" "" "" "-" "0000005260" "00000322" "00" "461" "0" "461" "0" "c.461del" "" "p.(Gly154Glufs*32)" "r.(?)" "" "" "" "" "" "-" "0000005260" "00000323" "00" "371" "0" "371" "0" "c.371del" "" "p.(Gly124Glufs*30)" "r.(?)" "" "" "" "" "" "-" "0000005260" "00000324" "00" "371" "0" "371" "0" "c.371del" "" "p.(Gly124Glufs*32)" "r.(?)" "" "" "" "" "" "-" "0000005261" "00000320" "00" "1098" "0" "1199" "0" "n.1098_1199del" "" "" "" "" "" "" "" "" "-" "0000005261" "00000321" "00" "778" "0" "879" "0" "c.778_879del" "" "p.(Val260_Arg292delinsAlaLeuLeuAlaAlaPheTrpIleLeuGlyProHisArgAlaGlyAlaGluGlyTrpThrAspAlaPheSerSerAsn" "r.(?)" "" "" "" "" "" "-" "0000005261" "00000322" "00" "736" "0" "837" "0" "c.736_837del" "" "p.(Val246_Arg278delinsAlaLeuLeuAlaAlaPheTrpIleLeuGlyProHisArgAlaGlyAlaGluGlyTrpThrAspAlaPheSerSerAsn" "r.(?)" "" "" "" "" "" "-" "0000005261" "00000323" "00" "688" "0" "789" "0" "c.688_789del" "" "p.(Val230_Arg262delinsAlaLeuLeuAlaAlaPheTrpIleLeuGlyProHisArgAlaGlyAlaGluGlyTrpThrAspAlaPheSerSerAsn" "r.(?)" "" "" "" "" "" "-" "0000005261" "00000324" "00" "646" "0" "747" "0" "c.646_747del" "" "p.(Val216_Arg248delinsAlaLeuLeuAlaAlaPheTrpIleLeuGlyProHisArgAlaGlyAlaGluGlyTrpThrAspAlaPheSerSerAsn" "r.(?)" "" "" "" "" "" "-" "0000005262" "00000320" "00" "305" "0" "305" "0" "n.305del" "" "" "" "" "" "" "" "" "-" "0000005262" "00000321" "00" "1" "0" "1" "0" "c.1del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000005262" "00000322" "00" "1" "0" "1" "0" "c.1del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000005262" "00000323" "00" "1" "0" "1" "0" "c.1del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000005262" "00000324" "00" "1" "0" "1" "0" "c.1del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000005263" "00000320" "00" "288" "0" "288" "0" "n.288C>T" "" "" "" "" "" "" "" "" "-" "0000005263" "00000321" "00" "-17" "0" "-17" "0" "c.-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005263" "00000322" "00" "-17" "0" "-17" "0" "c.-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005263" "00000323" "00" "-17" "0" "-17" "0" "c.-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005263" "00000324" "00" "-17" "0" "-17" "0" "c.-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005264" "00000320" "00" "217" "0" "217" "0" "n.217G>C" "" "" "" "" "" "" "" "" "-" "0000005264" "00000321" "00" "-88" "0" "-88" "0" "c.-88G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005264" "00000322" "00" "-88" "0" "-88" "0" "c.-88G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005264" "00000323" "00" "-88" "0" "-88" "0" "c.-88G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005264" "00000324" "00" "-88" "0" "-88" "0" "c.-88G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005265" "00000320" "00" "186" "0" "186" "0" "n.186del" "" "" "" "" "" "" "" "" "-" "0000005265" "00000321" "00" "-119" "0" "-119" "0" "c.-119del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005265" "00000322" "00" "-119" "0" "-119" "0" "c.-119del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005265" "00000323" "00" "-119" "0" "-119" "0" "c.-119del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005265" "00000324" "00" "-119" "0" "-119" "0" "c.-119del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005266" "00000320" "00" "314" "0" "315" "0" "n.314_315insG" "" "" "" "" "" "" "" "" "-" "0000005266" "00000321" "00" "10" "0" "11" "0" "c.10_11insG" "" "p.(His4Argfs*130)" "r.(?)" "" "" "" "" "" "-" "0000005266" "00000322" "00" "10" "0" "11" "0" "c.10_11insG" "" "p.(His4Argfs*130)" "r.(?)" "" "" "" "" "" "-" "0000005266" "00000323" "00" "10" "0" "11" "0" "c.10_11insG" "" "p.(His4Argfs*169)" "r.(?)" "" "" "" "" "" "-" "0000005266" "00000324" "00" "10" "0" "11" "0" "c.10_11insG" "" "p.(His4Argfs*155)" "r.(?)" "" "" "" "" "" "-" "0000005267" "00000320" "00" "317" "0" "317" "0" "n.317G>T" "" "" "" "" "" "" "" "" "-" "0000005267" "00000321" "00" "13" "0" "13" "0" "c.13G>T" "" "p.(Val5Leu)" "r.(?)" "" "" "" "" "" "-" "0000005267" "00000322" "00" "13" "0" "13" "0" "c.13G>T" "" "p.(Val5Leu)" "r.(?)" "" "" "" "" "" "-" "0000005267" "00000323" "00" "13" "0" "13" "0" "c.13G>T" "" "p.(Val5Leu)" "r.(?)" "" "" "" "" "" "-" "0000005267" "00000324" "00" "13" "0" "13" "0" "c.13G>T" "" "p.(Val5Leu)" "r.(?)" "" "" "" "" "" "-" "0000005268" "00000320" "00" "352" "0" "352" "0" "n.352C>G" "" "" "" "" "" "" "" "" "-" "0000005268" "00000321" "00" "48" "0" "48" "0" "c.48C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005268" "00000322" "00" "48" "0" "48" "0" "c.48C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005268" "00000323" "00" "48" "0" "48" "0" "c.48C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005268" "00000324" "00" "48" "0" "48" "0" "c.48C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005269" "00000320" "00" "355" "0" "355" "0" "n.355G>A" "" "" "" "" "" "" "" "" "-" "0000005269" "00000321" "00" "51" "0" "51" "0" "c.51G>A" "" "p.(Trp17*)" "r.(?)" "" "" "" "" "" "-" "0000005269" "00000322" "00" "51" "0" "51" "0" "c.51G>A" "" "p.(Trp17*)" "r.(?)" "" "" "" "" "" "-" "0000005269" "00000323" "00" "51" "0" "51" "0" "c.51G>A" "" "p.(Trp17*)" "r.(?)" "" "" "" "" "" "-" "0000005269" "00000324" "00" "51" "0" "51" "0" "c.51G>A" "" "p.(Trp17*)" "r.(?)" "" "" "" "" "" "-" "0000005270" "00000320" "00" "357" "0" "358" "0" "n.357_358del" "" "" "" "" "" "" "" "" "-" "0000005270" "00000321" "00" "53" "0" "54" "0" "c.53_54del" "" "p.(Leu19Glyfs*114)" "r.(?)" "" "" "" "" "" "-" "0000005270" "00000322" "00" "53" "0" "54" "0" "c.53_54del" "" "p.(Leu19Glyfs*114)" "r.(?)" "" "" "" "" "" "-" "0000005270" "00000323" "00" "53" "0" "54" "0" "c.53_54del" "" "p.(Leu19Glyfs*153)" "r.(?)" "" "" "" "" "" "-" "0000005270" "00000324" "00" "53" "0" "54" "0" "c.53_54del" "" "p.(Leu19Glyfs*139)" "r.(?)" "" "" "" "" "" "-" "0000005271" "00000320" "00" "366" "0" "366" "0" "n.366G>T" "" "" "" "" "" "" "" "" "-" "0000005271" "00000321" "00" "62" "0" "62" "0" "c.62G>T" "" "p.(Ser21Ile)" "r.(?)" "" "" "" "" "" "-" "0000005271" "00000322" "00" "62" "0" "62" "0" "c.62G>T" "" "p.(Ser21Ile)" "r.(?)" "" "" "" "" "" "-" "0000005271" "00000323" "00" "62" "0" "62" "0" "c.62G>T" "" "p.(Ser21Ile)" "r.(?)" "" "" "" "" "" "-" "0000005271" "00000324" "00" "62" "0" "62" "0" "c.62G>T" "" "p.(Ser21Ile)" "r.(?)" "" "" "" "" "" "-" "0000005272" "00000320" "00" "386" "0" "388" "0" "n.386_388del" "" "" "" "" "" "" "" "" "-" "0000005272" "00000321" "00" "82" "0" "84" "0" "c.82_84del" "" "p.(Val28del)" "r.(?)" "" "" "" "" "" "-" "0000005272" "00000322" "00" "82" "0" "84" "0" "c.82_84del" "" "p.(Val28del)" "r.(?)" "" "" "" "" "" "-" "0000005272" "00000323" "00" "82" "0" "84" "0" "c.82_84del" "" "p.(Val28del)" "r.(?)" "" "" "" "" "" "-" "0000005272" "00000324" "00" "82" "0" "84" "0" "c.82_84del" "" "p.(Val28del)" "r.(?)" "" "" "" "" "" "-" "0000005273" "00000320" "00" "387" "0" "387" "0" "n.387T>A" "" "" "" "" "" "" "" "" "-" "0000005273" "00000321" "00" "83" "0" "83" "0" "c.83T>A" "" "p.(Val28Glu)" "r.(?)" "" "" "" "" "" "-" "0000005273" "00000322" "00" "83" "0" "83" "0" "c.83T>A" "" "p.(Val28Glu)" "r.(?)" "" "" "" "" "" "-" "0000005273" "00000323" "00" "83" "0" "83" "0" "c.83T>A" "" "p.(Val28Glu)" "r.(?)" "" "" "" "" "" "-" "0000005273" "00000324" "00" "83" "0" "83" "0" "c.83T>A" "" "p.(Val28Glu)" "r.(?)" "" "" "" "" "" "-" "0000005274" "00000320" "00" "390" "0" "390" "0" "n.390G>A" "" "" "" "" "" "" "" "" "-" "0000005274" "00000321" "00" "86" "0" "86" "0" "c.86G>A" "" "p.(Gly29Asp)" "r.(?)" "" "" "" "" "" "-" "0000005274" "00000322" "00" "86" "0" "86" "0" "c.86G>A" "" "p.(Gly29Asp)" "r.(?)" "" "" "" "" "" "-" "0000005274" "00000323" "00" "86" "0" "86" "0" "c.86G>A" "" "p.(Gly29Asp)" "r.(?)" "" "" "" "" "" "-" "0000005274" "00000324" "00" "86" "0" "86" "0" "c.86G>A" "" "p.(Gly29Asp)" "r.(?)" "" "" "" "" "" "-" "0000005275" "00000320" "00" "413" "1" "413" "1" "n.413+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005275" "00000321" "00" "109" "1" "109" "1" "c.109+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005275" "00000322" "00" "109" "1" "109" "1" "c.109+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005275" "00000323" "00" "109" "1" "109" "1" "c.109+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005275" "00000324" "00" "109" "1" "109" "1" "c.109+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005276" "00000320" "00" "413" "5" "413" "5" "n.413+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005276" "00000321" "00" "109" "5" "109" "5" "c.109+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005276" "00000322" "00" "109" "5" "109" "5" "c.109+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005276" "00000323" "00" "109" "5" "109" "5" "c.109+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005276" "00000324" "00" "109" "5" "109" "5" "c.109+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005277" "00000320" "00" "413" "5" "413" "5" "n.413+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005277" "00000321" "00" "109" "5" "109" "5" "c.109+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005277" "00000322" "00" "109" "5" "109" "5" "c.109+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005277" "00000323" "00" "109" "5" "109" "5" "c.109+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005277" "00000324" "00" "109" "5" "109" "5" "c.109+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005278" "00000320" "00" "413" "6" "413" "6" "n.413+6T>C" "" "" "" "" "" "" "" "" "-" "0000005278" "00000321" "00" "109" "6" "109" "6" "c.109+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005278" "00000322" "00" "109" "6" "109" "6" "c.109+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005278" "00000323" "00" "109" "6" "109" "6" "c.109+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005278" "00000324" "00" "109" "6" "109" "6" "c.109+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005279" "00000320" "00" "413" "28" "413" "28" "n.413+28C>T" "" "" "" "" "" "" "" "" "-" "0000005279" "00000321" "00" "109" "28" "109" "28" "c.109+28C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005279" "00000322" "00" "109" "28" "109" "28" "c.109+28C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005279" "00000323" "00" "109" "28" "109" "28" "c.109+28C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005279" "00000324" "00" "109" "28" "109" "28" "c.109+28C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005280" "00000320" "00" "414" "-1" "414" "-1" "n.414-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005280" "00000321" "00" "110" "-1" "110" "-1" "c.110-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005280" "00000322" "00" "110" "-1" "110" "-1" "c.110-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005280" "00000323" "00" "110" "-1" "110" "-1" "c.110-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005280" "00000324" "00" "110" "-1" "110" "-1" "c.110-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005281" "00000320" "00" "414" "-2" "414" "-2" "n.414-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005281" "00000321" "00" "110" "-2" "110" "-2" "c.110-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005281" "00000322" "00" "110" "-2" "110" "-2" "c.110-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005281" "00000323" "00" "110" "-2" "110" "-2" "c.110-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005281" "00000324" "00" "110" "-2" "110" "-2" "c.110-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005282" "00000320" "00" "414" "-17" "414" "-17" "n.414-17C>T" "" "" "" "" "" "" "" "" "-" "0000005282" "00000321" "00" "110" "-17" "110" "-17" "c.110-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005282" "00000322" "00" "110" "-17" "110" "-17" "c.110-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005282" "00000323" "00" "110" "-17" "110" "-17" "c.110-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005282" "00000324" "00" "110" "-17" "110" "-17" "c.110-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005283" "00000320" "00" "422" "0" "422" "0" "n.422A>G" "" "" "" "" "" "" "" "" "-" "0000005283" "00000321" "00" "118" "0" "118" "0" "c.118A>G" "" "p.(Asn40Asp)" "r.(?)" "" "" "" "" "" "-" "0000005283" "00000322" "00" "118" "0" "118" "0" "c.118A>G" "" "p.(Asn40Asp)" "r.(?)" "" "" "" "" "" "-" "0000005283" "00000323" "00" "118" "0" "118" "0" "c.118A>G" "" "p.(Asn40Asp)" "r.(?)" "" "" "" "" "" "-" "0000005283" "00000324" "00" "118" "0" "118" "0" "c.118A>G" "" "p.(Asn40Asp)" "r.(?)" "" "" "" "" "" "-" "0000005284" "00000320" "00" "427" "0" "427" "0" "n.427C>T" "" "" "" "" "" "" "" "" "-" "0000005284" "00000321" "00" "123" "0" "123" "0" "c.123C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005284" "00000322" "00" "123" "0" "123" "0" "c.123C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005284" "00000323" "00" "123" "0" "123" "0" "c.123C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005284" "00000324" "00" "123" "0" "123" "0" "c.123C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005285" "00000320" "00" "428" "0" "428" "0" "n.428del" "" "" "" "" "" "" "" "" "-" "0000005285" "00000321" "00" "124" "0" "124" "0" "c.124del" "" "p.(Leu42*)" "r.(?)" "" "" "" "" "" "-" "0000005285" "00000322" "00" "124" "0" "124" "0" "c.124del" "" "p.(Leu42*)" "r.(?)" "" "" "" "" "" "-" "0000005285" "00000323" "00" "124" "0" "124" "0" "c.124del" "" "p.(Leu42*)" "r.(?)" "" "" "" "" "" "-" "0000005285" "00000324" "00" "124" "0" "124" "0" "c.124del" "" "p.(Leu42*)" "r.(?)" "" "" "" "" "" "-" "0000005286" "00000320" "00" "431" "0" "431" "0" "n.431A>C" "" "" "" "" "" "" "" "" "-" "0000005286" "00000321" "00" "127" "0" "127" "0" "c.127A>C" "" "p.(Thr43Pro)" "r.(?)" "" "" "" "" "" "-" "0000005286" "00000322" "00" "127" "0" "127" "0" "c.127A>C" "" "p.(Thr43Pro)" "r.(?)" "" "" "" "" "" "-" "0000005286" "00000323" "00" "127" "0" "127" "0" "c.127A>C" "" "p.(Thr43Pro)" "r.(?)" "" "" "" "" "" "-" "0000005286" "00000324" "00" "127" "0" "127" "0" "c.127A>C" "" "p.(Thr43Pro)" "r.(?)" "" "" "" "" "" "-" "0000005287" "00000320" "00" "444" "0" "456" "0" "n.444_456del" "" "" "" "" "" "" "" "" "-" "0000005287" "00000321" "00" "140" "0" "152" "0" "c.140_152del" "" "p.(Arg47Thrfs*32)" "r.(?)" "" "" "" "" "" "-" "0000005287" "00000322" "00" "140" "0" "152" "0" "c.140_152del" "" "p.(Arg47Thrfs*32)" "r.(?)" "" "" "" "" "" "-" "0000005287" "00000323" "00" "140" "0" "152" "0" "c.140_152del" "" "p.(Arg47Thrfs*32)" "r.(?)" "" "" "" "" "" "-" "0000005287" "00000324" "00" "140" "0" "152" "0" "c.140_152del" "" "p.(Arg47Thrfs*32)" "r.(?)" "" "" "" "" "" "-" "0000005288" "00000320" "00" "453" "0" "453" "0" "n.453T>C" "" "" "" "" "" "" "" "" "-" "0000005288" "00000321" "00" "149" "0" "149" "0" "c.149T>C" "" "p.(Leu50Pro)" "r.(?)" "" "" "" "" "" "-" "0000005288" "00000322" "00" "149" "0" "149" "0" "c.149T>C" "" "p.(Leu50Pro)" "r.(?)" "" "" "" "" "" "-" "0000005288" "00000323" "00" "149" "0" "149" "0" "c.149T>C" "" "p.(Leu50Pro)" "r.(?)" "" "" "" "" "" "-" "0000005288" "00000324" "00" "149" "0" "149" "0" "c.149T>C" "" "p.(Leu50Pro)" "r.(?)" "" "" "" "" "" "-" "0000005289" "00000320" "00" "457" "0" "457" "0" "n.457C>G" "" "" "" "" "" "" "" "" "-" "0000005289" "00000321" "00" "153" "0" "153" "0" "c.153C>G" "" "p.(Tyr51*)" "r.(?)" "" "" "" "" "" "-" "0000005289" "00000322" "00" "153" "0" "153" "0" "c.153C>G" "" "p.(Tyr51*)" "r.(?)" "" "" "" "" "" "-" "0000005289" "00000323" "00" "153" "0" "153" "0" "c.153C>G" "" "p.(Tyr51*)" "r.(?)" "" "" "" "" "" "-" "0000005289" "00000324" "00" "153" "0" "153" "0" "c.153C>G" "" "p.(Tyr51*)" "r.(?)" "" "" "" "" "" "-" "0000005290" "00000320" "00" "461" "0" "461" "0" "n.461dup" "" "" "" "" "" "" "" "" "-" "0000005290" "00000321" "00" "157" "0" "157" "0" "c.157dup" "" "p.(Leu53Profs*81)" "r.(?)" "" "" "" "" "" "-" "0000005290" "00000322" "00" "157" "0" "157" "0" "c.157dup" "" "p.(Leu53Profs*81)" "r.(?)" "" "" "" "" "" "-" "0000005290" "00000323" "00" "157" "0" "157" "0" "c.157dup" "" "p.(Leu53Profs*120)" "r.(?)" "" "" "" "" "" "-" "0000005290" "00000324" "00" "157" "0" "157" "0" "c.157dup" "" "p.(Leu53Profs*106)" "r.(?)" "" "" "" "" "" "-" "0000005291" "00000320" "00" "462" "0" "466" "0" "n.462_466del" "" "" "" "" "" "" "" "" "-" "0000005291" "00000321" "00" "158" "0" "162" "0" "c.158_162del" "" "p.(Leu53Argfs*79)" "r.(?)" "" "" "" "" "" "-" "0000005291" "00000322" "00" "158" "0" "162" "0" "c.158_162del" "" "p.(Leu53Argfs*79)" "r.(?)" "" "" "" "" "" "-" "0000005291" "00000323" "00" "158" "0" "162" "0" "c.158_162del" "" "p.(Leu53Argfs*118)" "r.(?)" "" "" "" "" "" "-" "0000005291" "00000324" "00" "158" "0" "162" "0" "c.158_162del" "" "p.(Leu53Argfs*104)" "r.(?)" "" "" "" "" "" "-" "0000005292" "00000320" "00" "465" "0" "465" "0" "n.465T>A" "" "" "" "" "" "" "" "" "-" "0000005292" "00000321" "00" "161" "0" "161" "0" "c.161T>A" "" "p.(Ile54Asn)" "r.(?)" "" "" "" "" "" "-" "0000005292" "00000322" "00" "161" "0" "161" "0" "c.161T>A" "" "p.(Ile54Asn)" "r.(?)" "" "" "" "" "" "-" "0000005292" "00000323" "00" "161" "0" "161" "0" "c.161T>A" "" "p.(Ile54Asn)" "r.(?)" "" "" "" "" "" "-" "0000005292" "00000324" "00" "161" "0" "161" "0" "c.161T>A" "" "p.(Ile54Asn)" "r.(?)" "" "" "" "" "" "-" "0000005293" "00000320" "00" "467" "0" "467" "0" "n.467G>T" "" "" "" "" "" "" "" "" "-" "0000005293" "00000321" "00" "163" "0" "163" "0" "c.163G>T" "" "p.(Glu55*)" "r.(?)" "" "" "" "" "" "-" "0000005293" "00000322" "00" "163" "0" "163" "0" "c.163G>T" "" "p.(Glu55*)" "r.(?)" "" "" "" "" "" "-" "0000005293" "00000323" "00" "163" "0" "163" "0" "c.163G>T" "" "p.(Glu55*)" "r.(?)" "" "" "" "" "" "-" "0000005293" "00000324" "00" "163" "0" "163" "0" "c.163G>T" "" "p.(Glu55*)" "r.(?)" "" "" "" "" "" "-" "0000005294" "00000320" "00" "474" "0" "474" "0" "n.474G>T" "" "" "" "" "" "" "" "" "-" "0000005294" "00000321" "00" "170" "0" "170" "0" "c.170G>T" "" "p.(Arg57Leu)" "r.(?)" "" "" "" "" "" "-" "0000005294" "00000322" "00" "170" "0" "170" "0" "c.170G>T" "" "p.(Arg57Leu)" "r.(?)" "" "" "" "" "" "-" "0000005294" "00000323" "00" "170" "0" "170" "0" "c.170G>T" "" "p.(Arg57Leu)" "r.(?)" "" "" "" "" "" "-" "0000005294" "00000324" "00" "170" "0" "170" "0" "c.170G>T" "" "p.(Arg57Leu)" "r.(?)" "" "" "" "" "" "-" "0000005295" "00000320" "00" "475" "0" "475" "0" "n.475del" "" "" "" "" "" "" "" "" "-" "0000005295" "00000321" "00" "171" "0" "171" "0" "c.171del" "" "p.(Gly58Alafs*25)" "r.(?)" "" "" "" "" "" "-" "0000005295" "00000322" "00" "171" "0" "171" "0" "c.171del" "" "p.(Gly58Alafs*25)" "r.(?)" "" "" "" "" "" "-" "0000005295" "00000323" "00" "171" "0" "171" "0" "c.171del" "" "p.(Gly58Alafs*25)" "r.(?)" "" "" "" "" "" "-" "0000005295" "00000324" "00" "171" "0" "171" "0" "c.171del" "" "p.(Gly58Alafs*25)" "r.(?)" "" "" "" "" "" "-" "0000005296" "00000320" "00" "489" "0" "489" "0" "n.489C>T" "" "" "" "" "" "" "" "" "-" "0000005296" "00000321" "00" "185" "0" "185" "0" "c.185C>T" "" "p.(Pro62Leu)" "r.(?)" "" "" "" "" "" "-" "0000005296" "00000322" "00" "185" "0" "185" "0" "c.185C>T" "" "p.(Pro62Leu)" "r.(?)" "" "" "" "" "" "-" "0000005296" "00000323" "00" "185" "0" "185" "0" "c.185C>T" "" "p.(Pro62Leu)" "r.(?)" "" "" "" "" "" "-" "0000005296" "00000324" "00" "185" "0" "185" "0" "c.185C>T" "" "p.(Pro62Leu)" "r.(?)" "" "" "" "" "" "-" "0000005297" "00000320" "00" "511" "0" "511" "0" "n.511C>G" "" "" "" "" "" "" "" "" "-" "0000005297" "00000321" "00" "207" "0" "207" "0" "c.207C>G" "" "p.(His69Gln)" "r.(?)" "" "" "" "" "" "-" "0000005297" "00000322" "00" "207" "0" "207" "0" "c.207C>G" "" "p.(His69Gln)" "r.(?)" "" "" "" "" "" "-" "0000005297" "00000323" "00" "207" "0" "207" "0" "c.207C>G" "" "p.(His69Gln)" "r.(?)" "" "" "" "" "" "-" "0000005297" "00000324" "00" "207" "0" "207" "0" "c.207C>G" "" "p.(His69Gln)" "r.(?)" "" "" "" "" "" "-" "0000005298" "00000320" "00" "512" "0" "512" "0" "n.512C>T" "" "" "" "" "" "" "" "" "-" "0000005298" "00000321" "00" "208" "0" "208" "0" "c.208C>T" "" "p.(Gln70*)" "r.(?)" "" "" "" "" "" "-" "0000005298" "00000322" "00" "208" "0" "208" "0" "c.208C>T" "" "p.(Gln70*)" "r.(?)" "" "" "" "" "" "-" "0000005298" "00000323" "00" "208" "0" "208" "0" "c.208C>T" "" "p.(Gln70*)" "r.(?)" "" "" "" "" "" "-" "0000005298" "00000324" "00" "208" "0" "208" "0" "c.208C>T" "" "p.(Gln70*)" "r.(?)" "" "" "" "" "" "-" "0000005299" "00000320" "00" "515" "0" "515" "0" "n.515T>C" "" "" "" "" "" "" "" "" "-" "0000005299" "00000321" "00" "211" "0" "211" "0" "c.211T>C" "" "p.(Ser71Pro)" "r.(?)" "" "" "" "" "" "-" "0000005299" "00000322" "00" "211" "0" "211" "0" "c.211T>C" "" "p.(Ser71Pro)" "r.(?)" "" "" "" "" "" "-" "0000005299" "00000323" "00" "211" "0" "211" "0" "c.211T>C" "" "p.(Ser71Pro)" "r.(?)" "" "" "" "" "" "-" "0000005299" "00000324" "00" "211" "0" "211" "0" "c.211T>C" "" "p.(Ser71Pro)" "r.(?)" "" "" "" "" "" "-" "0000005300" "00000320" "00" "520" "0" "520" "0" "n.520C>A" "" "" "" "" "" "" "" "" "-" "0000005300" "00000321" "00" "216" "0" "216" "0" "c.216C>A" "" "p.(Cys72*)" "r.(?)" "" "" "" "" "" "-" "0000005300" "00000322" "00" "216" "0" "216" "0" "c.216C>A" "" "p.(Cys72*)" "r.(?)" "" "" "" "" "" "-" "0000005300" "00000323" "00" "216" "0" "216" "0" "c.216C>A" "" "p.(Cys72*)" "r.(?)" "" "" "" "" "" "-" "0000005300" "00000324" "00" "216" "0" "216" "0" "c.216C>A" "" "p.(Cys72*)" "r.(?)" "" "" "" "" "" "-" "0000005301" "00000320" "00" "526" "0" "526" "0" "n.526C>G" "" "" "" "" "" "" "" "" "-" "0000005301" "00000321" "00" "222" "0" "222" "0" "c.222C>G" "" "p.(Asp74Glu)" "r.(?)" "" "" "" "" "" "-" "0000005301" "00000322" "00" "222" "0" "222" "0" "c.222C>G" "" "p.(Asp74Glu)" "r.(?)" "" "" "" "" "" "-" "0000005301" "00000323" "00" "222" "0" "222" "0" "c.222C>G" "" "p.(Asp74Glu)" "r.(?)" "" "" "" "" "" "-" "0000005301" "00000324" "00" "222" "0" "222" "0" "c.222C>G" "" "p.(Asp74Glu)" "r.(?)" "" "" "" "" "" "-" "0000005302" "00000320" "00" "527" "0" "527" "0" "n.527G>C" "" "" "" "" "" "" "" "" "-" "0000005302" "00000321" "00" "223" "0" "223" "0" "c.223G>C" "" "p.(Asp75His)" "r.(?)" "" "" "" "" "" "-" "0000005302" "00000322" "00" "223" "0" "223" "0" "c.223G>C" "" "p.(Asp75His)" "r.(?)" "" "" "" "" "" "-" "0000005302" "00000323" "00" "223" "0" "223" "0" "c.223G>C" "" "p.(Asp75His)" "r.(?)" "" "" "" "" "" "-" "0000005302" "00000324" "00" "223" "0" "223" "0" "c.223G>C" "" "p.(Asp75His)" "r.(?)" "" "" "" "" "" "-" "0000005303" "00000320" "00" "531" "0" "531" "0" "n.531del" "" "" "" "" "" "" "" "" "-" "0000005303" "00000321" "00" "227" "0" "227" "0" "c.227del" "" "p.(Pro76Leufs*7)" "r.(?)" "" "" "" "" "" "-" "0000005303" "00000322" "00" "227" "0" "227" "0" "c.227del" "" "p.(Pro76Leufs*7)" "r.(?)" "" "" "" "" "" "-" "0000005303" "00000323" "00" "227" "0" "227" "0" "c.227del" "" "p.(Pro76Leufs*7)" "r.(?)" "" "" "" "" "" "-" "0000005303" "00000324" "00" "227" "0" "227" "0" "c.227del" "" "p.(Pro76Leufs*7)" "r.(?)" "" "" "" "" "" "-" "0000005304" "00000320" "00" "540" "0" "540" "0" "n.540G>A" "" "" "" "" "" "" "" "" "-" "0000005304" "00000321" "00" "236" "0" "236" "0" "c.236G>A" "" "p.(Trp79*)" "r.(?)" "" "" "" "" "" "-" "0000005304" "00000322" "00" "236" "0" "236" "0" "c.236G>A" "" "p.(Trp79*)" "r.(?)" "" "" "" "" "" "-" "0000005304" "00000323" "00" "236" "0" "236" "0" "c.236G>A" "" "p.(Trp79*)" "r.(?)" "" "" "" "" "" "-" "0000005304" "00000324" "00" "236" "0" "236" "0" "c.236G>A" "" "p.(Trp79*)" "r.(?)" "" "" "" "" "" "-" "0000005305" "00000320" "00" "542" "2" "542" "2" "n.542+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005305" "00000321" "00" "238" "2" "238" "2" "c.238+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005305" "00000322" "00" "238" "2" "238" "2" "c.238+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005305" "00000323" "00" "238" "2" "238" "2" "c.238+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005305" "00000324" "00" "238" "2" "238" "2" "c.238+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005306" "00000320" "00" "541" "0" "541" "0" "n.541G>A" "" "" "" "" "" "" "" "" "-" "0000005306" "00000321" "00" "237" "0" "237" "0" "c.237G>A" "" "p.(Trp79*)" "r.(?)" "" "" "" "" "" "-" "0000005306" "00000322" "00" "237" "0" "237" "0" "c.237G>A" "" "p.(Trp79*)" "r.(?)" "" "" "" "" "" "-" "0000005306" "00000323" "00" "237" "0" "237" "0" "c.237G>A" "" "p.(Trp79*)" "r.(?)" "" "" "" "" "" "-" "0000005306" "00000324" "00" "237" "0" "237" "0" "c.237G>A" "" "p.(Trp79*)" "r.(?)" "" "" "" "" "" "-" "0000005307" "00000320" "00" "542" "0" "542" "0" "n.542G>A" "" "" "" "" "" "" "" "" "-" "0000005307" "00000321" "00" "238" "0" "238" "0" "c.238G>A" "" "p.(Gly80Arg)" "r.(?)" "" "" "" "" "" "-" "0000005307" "00000322" "00" "238" "0" "238" "0" "c.238G>A" "" "p.(Gly80Arg)" "r.(?)" "" "" "" "" "" "-" "0000005307" "00000323" "00" "238" "0" "238" "0" "c.238G>A" "" "p.(Gly80Arg)" "r.(?)" "" "" "" "" "" "-" "0000005307" "00000324" "00" "238" "0" "238" "0" "c.238G>A" "" "p.(Gly80Arg)" "r.(?)" "" "" "" "" "" "-" "0000005308" "00000320" "00" "543" "-1" "543" "-1" "n.543-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005308" "00000321" "00" "239" "-1" "239" "-1" "c.239-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005308" "00000322" "00" "239" "-1" "239" "-1" "c.239-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005308" "00000323" "00" "239" "-1" "239" "-1" "c.239-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005308" "00000324" "00" "239" "-1" "239" "-1" "c.239-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005309" "00000320" "00" "543" "0" "543" "0" "n.543G>A" "" "" "" "" "" "" "" "" "-" "0000005309" "00000321" "00" "239" "0" "239" "0" "c.239G>A" "" "p.(Gly80Glu)" "r.(?)" "" "" "" "" "" "-" "0000005309" "00000322" "00" "239" "0" "239" "0" "c.239G>A" "" "p.(Gly80Glu)" "r.(?)" "" "" "" "" "" "-" "0000005309" "00000323" "00" "239" "0" "239" "0" "c.239G>A" "" "p.(Gly80Glu)" "r.(?)" "" "" "" "" "" "-" "0000005309" "00000324" "00" "239" "0" "239" "0" "c.239G>A" "" "p.(Gly80Glu)" "r.(?)" "" "" "" "" "" "-" "0000005310" "00000320" "00" "543" "0" "544" "0" "n.543_544insC" "" "" "" "" "" "" "" "" "-" "0000005310" "00000321" "00" "239" "0" "240" "0" "c.239_240insC" "" "p.(Ile81Aspfs*53)" "r.(?)" "" "" "" "" "" "-" "0000005310" "00000322" "00" "239" "0" "240" "0" "c.239_240insC" "" "p.(Ile81Aspfs*53)" "r.(?)" "" "" "" "" "" "-" "0000005310" "00000323" "00" "239" "0" "240" "0" "c.239_240insC" "" "p.(Ile81Aspfs*92)" "r.(?)" "" "" "" "" "" "-" "0000005310" "00000324" "00" "239" "0" "240" "0" "c.239_240insC" "" "p.(Ile81Aspfs*78)" "r.(?)" "" "" "" "" "" "-" "0000005311" "00000320" "00" "549" "0" "549" "0" "n.549T>C" "" "" "" "" "" "" "" "" "-" "0000005311" "00000321" "00" "245" "0" "245" "0" "c.245T>C" "" "p.(Leu82Pro)" "r.(?)" "" "" "" "" "" "-" "0000005311" "00000322" "00" "245" "0" "245" "0" "c.245T>C" "" "p.(Leu82Pro)" "r.(?)" "" "" "" "" "" "-" "0000005311" "00000323" "00" "245" "0" "245" "0" "c.245T>C" "" "p.(Leu82Pro)" "r.(?)" "" "" "" "" "" "-" "0000005311" "00000324" "00" "245" "0" "245" "0" "c.245T>C" "" "p.(Leu82Pro)" "r.(?)" "" "" "" "" "" "-" "0000005312" "00000320" "00" "557" "0" "557" "0" "n.557C>T" "" "" "" "" "" "" "" "" "-" "0000005312" "00000321" "00" "253" "0" "253" "0" "c.253C>T" "" "p.(Arg85Cys)" "r.(?)" "" "" "" "" "" "-" "0000005312" "00000322" "00" "253" "0" "253" "0" "c.253C>T" "" "p.(Arg85Cys)" "r.(?)" "" "" "" "" "" "-" "0000005312" "00000323" "00" "253" "0" "253" "0" "c.253C>T" "" "p.(Arg85Cys)" "r.(?)" "" "" "" "" "" "-" "0000005312" "00000324" "00" "253" "0" "253" "0" "c.253C>T" "" "p.(Arg85Cys)" "r.(?)" "" "" "" "" "" "-" "0000005313" "00000320" "00" "568" "0" "568" "0" "n.568G>A" "" "" "" "" "" "" "" "" "-" "0000005313" "00000321" "00" "264" "0" "264" "0" "c.264G>A" "" "p.(Trp88*)" "r.(?)" "" "" "" "" "" "-" "0000005313" "00000322" "00" "264" "0" "264" "0" "c.264G>A" "" "p.(Trp88*)" "r.(?)" "" "" "" "" "" "-" "0000005313" "00000323" "00" "264" "0" "264" "0" "c.264G>A" "" "p.(Trp88*)" "r.(?)" "" "" "" "" "" "-" "0000005313" "00000324" "00" "264" "0" "264" "0" "c.264G>A" "" "p.(Trp88*)" "r.(?)" "" "" "" "" "" "-" "0000005314" "00000320" "00" "584" "0" "584" "0" "n.584C>A" "" "" "" "" "" "" "" "" "-" "0000005314" "00000321" "00" "280" "0" "280" "0" "c.280C>A" "" "p.(Arg94Ser)" "r.(?)" "" "" "" "" "" "-" "0000005314" "00000322" "00" "280" "0" "280" "0" "c.280C>A" "" "p.(Arg94Ser)" "r.(?)" "" "" "" "" "" "-" "0000005314" "00000323" "00" "280" "0" "280" "0" "c.280C>A" "" "p.(Arg94Ser)" "r.(?)" "" "" "" "" "" "-" "0000005314" "00000324" "00" "280" "0" "280" "0" "c.280C>A" "" "p.(Arg94Ser)" "r.(?)" "" "" "" "" "" "-" "0000005315" "00000320" "00" "584" "0" "584" "0" "n.584C>G" "" "" "" "" "" "" "" "" "-" "0000005315" "00000321" "00" "280" "0" "280" "0" "c.280C>G" "" "p.(Arg94Gly)" "r.(?)" "" "" "" "" "" "-" "0000005315" "00000322" "00" "280" "0" "280" "0" "c.280C>G" "" "p.(Arg94Gly)" "r.(?)" "" "" "" "" "" "-" "0000005315" "00000323" "00" "280" "0" "280" "0" "c.280C>G" "" "p.(Arg94Gly)" "r.(?)" "" "" "" "" "" "-" "0000005315" "00000324" "00" "280" "0" "280" "0" "c.280C>G" "" "p.(Arg94Gly)" "r.(?)" "" "" "" "" "" "-" "0000005316" "00000320" "00" "584" "0" "584" "0" "n.584C>T" "" "" "" "" "" "" "" "" "-" "0000005316" "00000321" "00" "280" "0" "280" "0" "c.280C>T" "" "p.(Arg94Cys)" "r.(?)" "" "" "" "" "" "-" "0000005316" "00000322" "00" "280" "0" "280" "0" "c.280C>T" "" "p.(Arg94Cys)" "r.(?)" "" "" "" "" "" "-" "0000005316" "00000323" "00" "280" "0" "280" "0" "c.280C>T" "" "p.(Arg94Cys)" "r.(?)" "" "" "" "" "" "-" "0000005316" "00000324" "00" "280" "0" "280" "0" "c.280C>T" "" "p.(Arg94Cys)" "r.(?)" "" "" "" "" "" "-" "0000005317" "00000320" "00" "585" "0" "585" "0" "n.585G>A" "" "" "" "" "" "" "" "" "-" "0000005317" "00000321" "00" "281" "0" "281" "0" "c.281G>A" "" "p.(Arg94His)" "r.(?)" "" "" "" "" "" "-" "0000005317" "00000322" "00" "281" "0" "281" "0" "c.281G>A" "" "p.(Arg94His)" "r.(?)" "" "" "" "" "" "-" "0000005317" "00000323" "00" "281" "0" "281" "0" "c.281G>A" "" "p.(Arg94His)" "r.(?)" "" "" "" "" "" "-" "0000005317" "00000324" "00" "281" "0" "281" "0" "c.281G>A" "" "p.(Arg94His)" "r.(?)" "" "" "" "" "" "-" "0000005318" "00000320" "00" "585" "0" "585" "0" "n.585delinsCT" "" "" "" "" "" "" "" "" "-" "0000005318" "00000321" "00" "281" "0" "281" "0" "c.281delinsCT" "" "p.(Arg94Profs*40)" "r.(?)" "" "" "" "" "" "-" "0000005318" "00000322" "00" "281" "0" "281" "0" "c.281delinsCT" "" "p.(Arg94Profs*40)" "r.(?)" "" "" "" "" "" "-" "0000005318" "00000323" "00" "281" "0" "281" "0" "c.281delinsCT" "" "p.(Arg94Profs*79)" "r.(?)" "" "" "" "" "" "-" "0000005318" "00000324" "00" "281" "0" "281" "0" "c.281delinsCT" "" "p.(Arg94Profs*65)" "r.(?)" "" "" "" "" "" "-" "0000005319" "00000320" "00" "589" "0" "589" "0" "n.589G>C" "" "" "" "" "" "" "" "" "-" "0000005319" "00000321" "00" "284" "1" "284" "1" "c.284+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005319" "00000322" "00" "284" "1" "284" "1" "c.284+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005319" "00000323" "00" "284" "1" "284" "1" "c.284+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005319" "00000324" "00" "284" "1" "284" "1" "c.284+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005320" "00000320" "00" "591" "0" "591" "0" "n.591G>T" "" "" "" "" "" "" "" "" "-" "0000005320" "00000321" "00" "284" "3" "284" "3" "c.284+3G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005320" "00000322" "00" "284" "3" "284" "3" "c.284+3G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005320" "00000323" "00" "284" "3" "284" "3" "c.284+3G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005320" "00000324" "00" "284" "3" "284" "3" "c.284+3G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005321" "00000320" "00" "593" "0" "593" "0" "n.593G>A" "" "" "" "" "" "" "" "" "-" "0000005321" "00000321" "00" "284" "5" "284" "5" "c.284+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005321" "00000322" "00" "284" "5" "284" "5" "c.284+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005321" "00000323" "00" "284" "5" "284" "5" "c.284+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005321" "00000324" "00" "284" "5" "284" "5" "c.284+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005322" "00000320" "00" "618" "0" "618" "0" "n.618C>T" "" "" "" "" "" "" "" "" "-" "0000005322" "00000321" "00" "284" "30" "284" "30" "c.284+30C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005322" "00000322" "00" "284" "30" "284" "30" "c.284+30C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005322" "00000323" "00" "284" "30" "284" "30" "c.284+30C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005322" "00000324" "00" "284" "30" "284" "30" "c.284+30C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005323" "00000320" "00" "694" "4" "694" "4" "n.694+4G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005323" "00000321" "00" "284" "110" "284" "110" "c.284+110G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005323" "00000322" "00" "284" "110" "284" "110" "c.284+110G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005323" "00000323" "00" "284" "110" "284" "110" "c.284+110G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005323" "00000324" "00" "284" "110" "284" "110" "c.284+110G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005324" "00000320" "00" "588" "0" "588" "0" "n.588dup" "" "" "" "" "" "" "" "" "-" "0000005324" "00000321" "00" "284" "0" "284" "0" "c.284dup" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005324" "00000322" "00" "284" "0" "284" "0" "c.284dup" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005324" "00000323" "00" "284" "0" "284" "0" "c.284dup" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005324" "00000324" "00" "284" "0" "284" "0" "c.284dup" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005325" "00000320" "00" "695" "0" "695" "0" "n.695G>A" "" "" "" "" "" "" "" "" "-" "0000005325" "00000321" "00" "285" "0" "285" "0" "c.285G>A" "" "p.(Trp95*)" "r.(?)" "" "" "" "" "" "-" "0000005325" "00000322" "00" "285" "0" "285" "0" "c.285G>A" "" "p.(Trp95*)" "r.(?)" "" "" "" "" "" "-" "0000005325" "00000323" "00" "285" "0" "285" "0" "c.285G>A" "" "p.(Trp95*)" "r.(?)" "" "" "" "" "" "-" "0000005325" "00000324" "00" "285" "0" "285" "0" "c.285G>A" "" "p.(Trp95*)" "r.(?)" "" "" "" "" "" "-" "0000005326" "00000320" "00" "712" "0" "712" "0" "n.712A>T" "" "" "" "" "" "" "" "" "-" "0000005326" "00000321" "00" "302" "0" "302" "0" "c.302A>T" "" "p.(Asp101Val)" "r.(?)" "" "" "" "" "" "-" "0000005326" "00000322" "00" "302" "0" "302" "0" "c.302A>T" "" "p.(Asp101Val)" "r.(?)" "" "" "" "" "" "-" "0000005326" "00000323" "00" "302" "0" "302" "0" "c.302A>T" "" "p.(Asp101Val)" "r.(?)" "" "" "" "" "" "-" "0000005326" "00000324" "00" "302" "0" "302" "0" "c.302A>T" "" "p.(Asp101Val)" "r.(?)" "" "" "" "" "" "-" "0000005327" "00000320" "00" "717" "0" "717" "0" "n.717T>C" "" "" "" "" "" "" "" "" "-" "0000005327" "00000321" "00" "307" "0" "307" "0" "c.307T>C" "" "p.(Cys103Arg)" "r.(?)" "" "" "" "" "" "-" "0000005327" "00000322" "00" "307" "0" "307" "0" "c.307T>C" "" "p.(Cys103Arg)" "r.(?)" "" "" "" "" "" "-" "0000005327" "00000323" "00" "307" "0" "307" "0" "c.307T>C" "" "p.(Cys103Arg)" "r.(?)" "" "" "" "" "" "-" "0000005327" "00000324" "00" "307" "0" "307" "0" "c.307T>C" "" "p.(Cys103Arg)" "r.(?)" "" "" "" "" "" "-" "0000005328" "00000320" "00" "720" "0" "720" "0" "n.720T>C" "" "" "" "" "" "" "" "" "-" "0000005328" "00000321" "00" "310" "0" "310" "0" "c.310T>C" "" "p.(Phe104Leu)" "r.(?)" "" "" "" "" "" "-" "0000005328" "00000322" "00" "310" "0" "310" "0" "c.310T>C" "" "p.(Phe104Leu)" "r.(?)" "" "" "" "" "" "-" "0000005328" "00000323" "00" "310" "0" "310" "0" "c.310T>C" "" "p.(Phe104Leu)" "r.(?)" "" "" "" "" "" "-" "0000005328" "00000324" "00" "310" "0" "310" "0" "c.310T>C" "" "p.(Phe104Leu)" "r.(?)" "" "" "" "" "" "-" "0000005329" "00000320" "00" "720" "0" "720" "0" "n.720T>G" "" "" "" "" "" "" "" "" "-" "0000005329" "00000321" "00" "310" "0" "310" "0" "c.310T>G" "" "p.(Phe104Val)" "r.(?)" "" "" "" "" "" "-" "0000005329" "00000322" "00" "310" "0" "310" "0" "c.310T>G" "" "p.(Phe104Val)" "r.(?)" "" "" "" "" "" "-" "0000005329" "00000323" "00" "310" "0" "310" "0" "c.310T>G" "" "p.(Phe104Val)" "r.(?)" "" "" "" "" "" "-" "0000005329" "00000324" "00" "310" "0" "310" "0" "c.310T>G" "" "p.(Phe104Val)" "r.(?)" "" "" "" "" "" "-" "0000005330" "00000320" "00" "731" "0" "731" "0" "n.731G>A" "" "" "" "" "" "" "" "" "-" "0000005330" "00000321" "00" "321" "0" "321" "0" "c.321G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005330" "00000322" "00" "321" "0" "321" "0" "c.321G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005330" "00000323" "00" "321" "0" "321" "0" "c.321G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005330" "00000324" "00" "321" "0" "321" "0" "c.321G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005331" "00000320" "00" "737" "0" "742" "0" "n.737_742del" "" "" "" "" "" "" "" "" "-" "0000005331" "00000321" "00" "327" "0" "332" "0" "c.327_332del" "" "p.(Ser110_His111del)" "r.(?)" "" "" "" "" "" "-" "0000005331" "00000322" "00" "327" "0" "332" "0" "c.327_332del" "" "p.(Ser110_His111del)" "r.(?)" "" "" "" "" "" "-" "0000005331" "00000323" "00" "327" "0" "332" "0" "c.327_332del" "" "p.(Ser110_His111del)" "r.(?)" "" "" "" "" "" "-" "0000005331" "00000324" "00" "327" "0" "332" "0" "c.327_332del" "" "p.(Ser110_His111del)" "r.(?)" "" "" "" "" "" "-" "0000005332" "00000320" "00" "738" "0" "738" "0" "n.738T>C" "" "" "" "" "" "" "" "" "-" "0000005332" "00000321" "00" "328" "0" "328" "0" "c.328T>C" "" "p.(Ser110Pro)" "r.(?)" "" "" "" "" "" "-" "0000005332" "00000322" "00" "328" "0" "328" "0" "c.328T>C" "" "p.(Ser110Pro)" "r.(?)" "" "" "" "" "" "-" "0000005332" "00000323" "00" "328" "0" "328" "0" "c.328T>C" "" "p.(Ser110Pro)" "r.(?)" "" "" "" "" "" "-" "0000005332" "00000324" "00" "328" "0" "328" "0" "c.328T>C" "" "p.(Ser110Pro)" "r.(?)" "" "" "" "" "" "-" "0000005333" "00000320" "00" "741" "0" "741" "0" "n.741C>T" "" "" "" "" "" "" "" "" "-" "0000005333" "00000321" "00" "331" "0" "331" "0" "c.331C>T" "" "p.(His111Tyr)" "r.(?)" "" "" "" "" "" "-" "0000005333" "00000322" "00" "331" "0" "331" "0" "c.331C>T" "" "p.(His111Tyr)" "r.(?)" "" "" "" "" "" "-" "0000005333" "00000323" "00" "331" "0" "331" "0" "c.331C>T" "" "p.(His111Tyr)" "r.(?)" "" "" "" "" "" "-" "0000005333" "00000324" "00" "331" "0" "331" "0" "c.331C>T" "" "p.(His111Tyr)" "r.(?)" "" "" "" "" "" "-" "0000005334" "00000320" "00" "747" "0" "749" "0" "n.747_749del" "" "" "" "" "" "" "" "" "-" "0000005334" "00000321" "00" "337" "0" "339" "0" "c.337_339del" "" "p.(Phe113del)" "r.(?)" "" "" "" "" "" "-" "0000005334" "00000322" "00" "337" "0" "339" "0" "c.337_339del" "" "p.(Phe113del)" "r.(?)" "" "" "" "" "" "-" "0000005334" "00000323" "00" "337" "0" "339" "0" "c.337_339del" "" "p.(Phe113del)" "r.(?)" "" "" "" "" "" "-" "0000005334" "00000324" "00" "337" "0" "339" "0" "c.337_339del" "" "p.(Phe113del)" "r.(?)" "" "" "" "" "" "-" "0000005335" "00000320" "00" "756" "0" "756" "0" "n.756G>C" "" "" "" "" "" "" "" "" "-" "0000005335" "00000321" "00" "346" "0" "346" "0" "c.346G>C" "" "p.(Gly116Arg)" "r.(?)" "" "" "" "" "" "-" "0000005335" "00000322" "00" "346" "0" "346" "0" "c.346G>C" "" "p.(Gly116Arg)" "r.(?)" "" "" "" "" "" "-" "0000005335" "00000323" "00" "346" "0" "346" "0" "c.346G>C" "" "p.(Gly116Arg)" "r.(?)" "" "" "" "" "" "-" "0000005335" "00000324" "00" "346" "0" "346" "0" "c.346G>C" "" "p.(Gly116Arg)" "r.(?)" "" "" "" "" "" "-" "0000005336" "00000320" "00" "757" "0" "757" "0" "n.757G>A" "" "" "" "" "" "" "" "" "-" "0000005336" "00000321" "00" "347" "0" "347" "0" "c.347G>A" "" "p.(Gly116Asp)" "r.(?)" "" "" "" "" "" "-" "0000005336" "00000322" "00" "347" "0" "347" "0" "c.347G>A" "" "p.(Gly116Asp)" "r.(?)" "" "" "" "" "" "-" "0000005336" "00000323" "00" "347" "0" "347" "0" "c.347G>A" "" "p.(Gly116Asp)" "r.(?)" "" "" "" "" "" "-" "0000005336" "00000324" "00" "347" "0" "347" "0" "c.347G>A" "" "p.(Gly116Asp)" "r.(?)" "" "" "" "" "" "-" "0000005337" "00000320" "00" "759" "0" "759" "0" "n.759A>G" "" "" "" "" "" "" "" "" "-" "0000005337" "00000321" "00" "349" "0" "349" "0" "c.349A>G" "" "p.(Lys117Glu)" "r.(?)" "" "" "" "" "" "-" "0000005337" "00000322" "00" "349" "0" "349" "0" "c.349A>G" "" "p.(Lys117Glu)" "r.(?)" "" "" "" "" "" "-" "0000005337" "00000323" "00" "349" "0" "349" "0" "c.349A>G" "" "p.(Lys117Glu)" "r.(?)" "" "" "" "" "" "-" "0000005337" "00000324" "00" "349" "0" "349" "0" "c.349A>G" "" "p.(Lys117Glu)" "r.(?)" "" "" "" "" "" "-" "0000005338" "00000320" "00" "762" "0" "762" "0" "n.762T>C" "" "" "" "" "" "" "" "" "-" "0000005338" "00000321" "00" "352" "0" "352" "0" "c.352T>C" "" "p.(Cys118Arg)" "r.(?)" "" "" "" "" "" "-" "0000005338" "00000322" "00" "352" "0" "352" "0" "c.352T>C" "" "p.(Cys118Arg)" "r.(?)" "" "" "" "" "" "-" "0000005338" "00000323" "00" "352" "0" "352" "0" "c.352T>C" "" "p.(Cys118Arg)" "r.(?)" "" "" "" "" "" "-" "0000005338" "00000324" "00" "352" "0" "352" "0" "c.352T>C" "" "p.(Cys118Arg)" "r.(?)" "" "" "" "" "" "-" "0000005339" "00000320" "00" "766" "0" "766" "0" "n.766T>G" "" "" "" "" "" "" "" "" "-" "0000005339" "00000321" "00" "356" "0" "356" "0" "c.356T>G" "" "p.(Val119Gly)" "r.(?)" "" "" "" "" "" "-" "0000005339" "00000322" "00" "356" "0" "356" "0" "c.356T>G" "" "p.(Val119Gly)" "r.(?)" "" "" "" "" "" "-" "0000005339" "00000323" "00" "356" "0" "356" "0" "c.356T>G" "" "p.(Val119Gly)" "r.(?)" "" "" "" "" "" "-" "0000005339" "00000324" "00" "356" "0" "356" "0" "c.356T>G" "" "p.(Val119Gly)" "r.(?)" "" "" "" "" "" "-" "0000005340" "00000320" "00" "768" "0" "768" "0" "n.768C>A" "" "" "" "" "" "" "" "" "-" "0000005340" "00000321" "00" "358" "0" "358" "0" "c.358C>A" "" "p.(Pro120Thr)" "r.(?)" "" "" "" "" "" "-" "0000005340" "00000322" "00" "358" "0" "358" "0" "c.358C>A" "" "p.(Pro120Thr)" "r.(?)" "" "" "" "" "" "-" "0000005340" "00000323" "00" "358" "0" "358" "0" "c.358C>A" "" "p.(Pro120Thr)" "r.(?)" "" "" "" "" "" "-" "0000005340" "00000324" "00" "358" "0" "358" "0" "c.358C>A" "" "p.(Pro120Thr)" "r.(?)" "" "" "" "" "" "-" "0000005341" "00000320" "00" "777" "0" "777" "0" "n.777C>T" "" "" "" "" "" "" "" "" "-" "0000005341" "00000321" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Arg123*)" "r.(?)" "" "" "" "" "" "-" "0000005341" "00000322" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Arg123*)" "r.(?)" "" "" "" "" "" "-" "0000005341" "00000323" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Arg123*)" "r.(?)" "" "" "" "" "" "-" "0000005341" "00000324" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Arg123*)" "r.(?)" "" "" "" "" "" "-" "0000005342" "00000320" "00" "780" "262" "780" "262" "n.780+262A>C" "" "" "" "" "" "" "" "" "-" "0000005342" "00000321" "00" "370" "262" "370" "262" "c.370+262A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005342" "00000322" "00" "370" "262" "370" "262" "c.370+262A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005342" "00000323" "00" "370" "262" "370" "262" "c.370+262A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005342" "00000324" "00" "370" "262" "370" "262" "c.370+262A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005343" "00000320" "00" "780" "332" "780" "332" "n.780+332G>A" "" "" "" "" "" "" "" "" "-" "0000005343" "00000321" "00" "371" "-202" "371" "-202" "c.371-202G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005343" "00000322" "00" "371" "-202" "371" "-202" "c.371-202G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005343" "00000323" "00" "370" "332" "370" "332" "c.370+332G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005343" "00000324" "00" "370" "332" "370" "332" "c.370+332G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005344" "00000320" "00" "780" "0" "780" "0" "n.780G>A" "" "" "" "" "" "" "" "" "-" "0000005344" "00000321" "00" "370" "0" "370" "0" "c.370G>A" "" "p.(Gly124Arg)" "r.(?)" "" "" "" "" "" "-" "0000005344" "00000322" "00" "370" "0" "370" "0" "c.370G>A" "" "p.(Gly124Arg)" "r.(?)" "" "" "" "" "" "-" "0000005344" "00000323" "00" "370" "0" "370" "0" "c.370G>A" "" "p.(Gly124Arg)" "r.(?)" "" "" "" "" "" "-" "0000005344" "00000324" "00" "370" "0" "370" "0" "c.370G>A" "" "p.(Gly124Arg)" "r.(?)" "" "" "" "" "" "-" "0000005345" "00000320" "00" "780" "0" "780" "0" "n.780G>C" "" "" "" "" "" "" "" "" "-" "0000005345" "00000321" "00" "370" "0" "370" "0" "c.370G>C" "" "p.(Gly124Arg)" "r.(?)" "" "" "" "" "" "-" "0000005345" "00000322" "00" "370" "0" "370" "0" "c.370G>C" "" "p.(Gly124Arg)" "r.(?)" "" "" "" "" "" "-" "0000005345" "00000323" "00" "370" "0" "370" "0" "c.370G>C" "" "p.(Gly124Arg)" "r.(?)" "" "" "" "" "" "-" "0000005345" "00000324" "00" "370" "0" "370" "0" "c.370G>C" "" "p.(Gly124Arg)" "r.(?)" "" "" "" "" "" "-" "0000005346" "00000320" "00" "780" "0" "780" "0" "n.780G>T" "" "" "" "" "" "" "" "" "-" "0000005346" "00000321" "00" "370" "0" "370" "0" "c.370G>T" "" "p.(Gly124*)" "r.(?)" "" "" "" "" "" "-" "0000005346" "00000322" "00" "370" "0" "370" "0" "c.370G>T" "" "p.(Gly124*)" "r.(?)" "" "" "" "" "" "-" "0000005346" "00000323" "00" "370" "0" "370" "0" "c.370G>T" "" "p.(Gly124*)" "r.(?)" "" "" "" "" "" "-" "0000005346" "00000324" "00" "370" "0" "370" "0" "c.370G>T" "" "p.(Gly124*)" "r.(?)" "" "" "" "" "" "-" "0000005347" "00000320" "00" "780" "532" "780" "532" "n.780+532A>G" "" "" "" "" "" "" "" "" "-" "0000005347" "00000321" "00" "371" "-2" "371" "-2" "c.371-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005347" "00000322" "00" "371" "-2" "371" "-2" "c.371-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005347" "00000323" "00" "370" "532" "370" "532" "c.370+532A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005347" "00000324" "00" "370" "532" "370" "532" "c.370+532A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005348" "00000320" "00" "780" "521" "780" "521" "n.780+521C>G" "" "" "" "" "" "" "" "" "-" "0000005348" "00000321" "00" "371" "-13" "371" "-13" "c.371-13C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005348" "00000322" "00" "371" "-13" "371" "-13" "c.371-13C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005348" "00000323" "00" "370" "521" "370" "521" "c.370+521C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005348" "00000324" "00" "370" "521" "370" "521" "c.370+521C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005349" "00000320" "00" "780" "393" "780" "393" "n.780+393G>A" "" "" "" "" "" "" "" "" "-" "0000005349" "00000321" "00" "371" "-141" "371" "-141" "c.371-141G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005349" "00000322" "00" "371" "-141" "371" "-141" "c.371-141G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005349" "00000323" "00" "370" "393" "370" "393" "c.370+393G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005349" "00000324" "00" "370" "393" "370" "393" "c.370+393G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005350" "00000320" "00" "780" "546" "780" "546" "n.780+546T>C" "" "" "" "" "" "" "" "" "-" "0000005350" "00000321" "00" "383" "0" "383" "0" "c.383T>C" "" "p.(Phe128Ser)" "r.(?)" "" "" "" "" "" "-" "0000005350" "00000322" "00" "383" "0" "383" "0" "c.383T>C" "" "p.(Phe128Ser)" "r.(?)" "" "" "" "" "" "-" "0000005350" "00000323" "00" "370" "546" "370" "546" "c.370+546T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005350" "00000324" "00" "370" "546" "370" "546" "c.370+546T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005351" "00000320" "00" "780" "582" "780" "582" "n.780+582C>T" "" "" "" "" "" "" "" "" "-" "0000005351" "00000321" "00" "419" "0" "419" "0" "c.419C>T" "" "p.(Thr140Ile)" "r.(?)" "" "" "" "" "" "-" "0000005351" "00000322" "00" "419" "0" "419" "0" "c.419C>T" "" "p.(Thr140Ile)" "r.(?)" "" "" "" "" "" "-" "0000005351" "00000323" "00" "370" "582" "370" "582" "c.370+582C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005351" "00000324" "00" "370" "582" "370" "582" "c.370+582C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005352" "00000320" "00" "781" "-46" "781" "-46" "n.781-46C>T" "" "" "" "" "" "" "" "" "-" "0000005352" "00000321" "00" "461" "-46" "461" "-46" "c.461-46C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005352" "00000322" "00" "461" "-46" "461" "-46" "c.461-46C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005352" "00000323" "00" "371" "-46" "371" "-46" "c.371-46C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005352" "00000324" "00" "371" "-46" "371" "-46" "c.371-46C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005353" "00000320" "00" "781" "-740" "781" "-740" "n.781-740G>A" "" "" "" "" "" "" "" "" "-" "0000005353" "00000321" "00" "461" "-740" "461" "-740" "c.461-740G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005353" "00000322" "00" "461" "-740" "461" "-740" "c.461-740G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005353" "00000323" "00" "371" "-740" "371" "-740" "c.371-740G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005353" "00000324" "00" "371" "-740" "371" "-740" "c.371-740G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005354" "00000320" "00" "781" "-1590" "781" "-1590" "n.781-1590A>G" "" "" "" "" "" "" "" "" "-" "0000005354" "00000321" "00" "461" "-1590" "461" "-1590" "c.461-1590A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005354" "00000322" "00" "461" "-1590" "461" "-1590" "c.461-1590A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005354" "00000323" "00" "371" "-1590" "371" "-1590" "c.371-1590A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005354" "00000324" "00" "371" "-1590" "371" "-1590" "c.371-1590A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005355" "00000320" "00" "781" "-2040" "781" "-2040" "n.781-2040A>C" "" "" "" "" "" "" "" "" "-" "0000005355" "00000321" "00" "461" "-2040" "461" "-2040" "c.461-2040A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005355" "00000322" "00" "461" "-2040" "461" "-2040" "c.461-2040A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005355" "00000323" "00" "371" "-2040" "371" "-2040" "c.371-2040A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005355" "00000324" "00" "371" "-2040" "371" "-2040" "c.371-2040A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005356" "00000320" "00" "781" "-2169" "781" "-2169" "n.781-2169G>T" "" "" "" "" "" "" "" "" "-" "0000005356" "00000321" "00" "461" "-2169" "461" "-2169" "c.461-2169G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005356" "00000322" "00" "461" "-2169" "461" "-2169" "c.461-2169G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005356" "00000323" "00" "371" "-2169" "371" "-2169" "c.371-2169G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005356" "00000324" "00" "371" "-2169" "371" "-2169" "c.371-2169G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005357" "00000320" "00" "781" "-2277" "781" "-2277" "n.781-2277G>C" "" "" "" "" "" "" "" "" "-" "0000005357" "00000321" "00" "461" "-2277" "461" "-2277" "c.461-2277G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005357" "00000322" "00" "461" "-2277" "461" "-2277" "c.461-2277G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005357" "00000323" "00" "371" "-2277" "371" "-2277" "c.371-2277G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005357" "00000324" "00" "371" "-2277" "371" "-2277" "c.371-2277G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005358" "00000320" "00" "798" "0" "798" "0" "n.798A>T" "" "" "" "" "" "" "" "" "-" "0000005358" "00000321" "00" "478" "0" "478" "0" "c.478A>T" "" "p.(Lys160*)" "r.(?)" "" "" "" "" "" "-" "0000005358" "00000322" "00" "478" "0" "478" "0" "c.478A>T" "" "p.(Lys160*)" "r.(?)" "" "" "" "" "" "-" "0000005358" "00000323" "00" "388" "0" "388" "0" "c.388A>T" "" "p.(Lys130*)" "r.(?)" "" "" "" "" "" "-" "0000005358" "00000324" "00" "388" "0" "388" "0" "c.388A>T" "" "p.(Lys130*)" "r.(?)" "" "" "" "" "" "-" "0000005359" "00000320" "00" "798" "0" "798" "0" "n.798del" "" "" "" "" "" "" "" "" "-" "0000005359" "00000321" "00" "478" "0" "478" "0" "c.478del" "" "p.(Lys160Argfs*24)" "r.(?)" "" "" "" "" "" "-" "0000005359" "00000322" "00" "478" "0" "478" "0" "c.478del" "" "p.(Lys160Argfs*26)" "r.(?)" "" "" "" "" "" "-" "0000005359" "00000323" "00" "388" "0" "388" "0" "c.388del" "" "p.(Lys130Argfs*24)" "r.(?)" "" "" "" "" "" "-" "0000005359" "00000324" "00" "388" "0" "388" "0" "c.388del" "" "p.(Lys130Argfs*26)" "r.(?)" "" "" "" "" "" "-" "0000005360" "00000320" "00" "801" "0" "801" "0" "n.801G>A" "" "" "" "" "" "" "" "" "-" "0000005360" "00000321" "00" "481" "0" "481" "0" "c.481G>A" "" "p.(Gly161Arg)" "r.(?)" "" "" "" "" "" "-" "0000005360" "00000322" "00" "481" "0" "481" "0" "c.481G>A" "" "p.(Gly161Arg)" "r.(?)" "" "" "" "" "" "-" "0000005360" "00000323" "00" "391" "0" "391" "0" "c.391G>A" "" "p.(Gly131Arg)" "r.(?)" "" "" "" "" "" "-" "0000005360" "00000324" "00" "391" "0" "391" "0" "c.391G>A" "" "p.(Gly131Arg)" "r.(?)" "" "" "" "" "" "-" "0000005361" "00000320" "00" "817" "0" "817" "0" "n.817T>A" "" "" "" "" "" "" "" "" "-" "0000005361" "00000321" "00" "497" "0" "497" "0" "c.497T>A" "" "p.(Leu166*)" "r.(?)" "" "" "" "" "" "-" "0000005361" "00000322" "00" "497" "0" "497" "0" "c.497T>A" "" "p.(Leu166*)" "r.(?)" "" "" "" "" "" "-" "0000005361" "00000323" "00" "407" "0" "407" "0" "c.407T>A" "" "p.(Leu136*)" "r.(?)" "" "" "" "" "" "-" "0000005361" "00000324" "00" "407" "0" "407" "0" "c.407T>A" "" "p.(Leu136*)" "r.(?)" "" "" "" "" "" "-" "0000005362" "00000320" "00" "826" "0" "826" "0" "n.826T>A" "" "" "" "" "" "" "" "" "-" "0000005362" "00000321" "00" "506" "0" "506" "0" "c.506T>A" "" "p.(Leu169His)" "r.(?)" "" "" "" "" "" "-" "0000005362" "00000322" "00" "506" "0" "506" "0" "c.506T>A" "" "p.(Leu169His)" "r.(?)" "" "" "" "" "" "-" "0000005362" "00000323" "00" "416" "0" "416" "0" "c.416T>A" "" "p.(Leu139His)" "r.(?)" "" "" "" "" "" "-" "0000005362" "00000324" "00" "416" "0" "416" "0" "c.416T>A" "" "p.(Leu139His)" "r.(?)" "" "" "" "" "" "-" "0000005363" "00000320" "00" "827" "0" "827" "0" "n.827C>T" "" "" "" "" "" "" "" "" "-" "0000005363" "00000321" "00" "507" "0" "507" "0" "c.507C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005363" "00000322" "00" "507" "0" "507" "0" "c.507C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005363" "00000323" "00" "417" "0" "417" "0" "c.417C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005363" "00000324" "00" "417" "0" "417" "0" "c.417C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005364" "00000320" "00" "837" "0" "837" "0" "n.837del" "" "" "" "" "" "" "" "" "-" "0000005364" "00000321" "00" "517" "0" "517" "0" "c.517del" "" "p.(Asp173Thrfs*11)" "r.(?)" "" "" "" "" "" "-" "0000005364" "00000322" "00" "517" "0" "517" "0" "c.517del" "" "p.(Asp173Thrfs*13)" "r.(?)" "" "" "" "" "" "-" "0000005364" "00000323" "00" "427" "0" "427" "0" "c.427del" "" "p.(Asp143Thrfs*11)" "r.(?)" "" "" "" "" "" "-" "0000005364" "00000324" "00" "427" "0" "427" "0" "c.427del" "" "p.(Asp143Thrfs*13)" "r.(?)" "" "" "" "" "" "-" "0000005365" "00000320" "00" "840" "0" "840" "0" "n.840T>G" "" "" "" "" "" "" "" "" "-" "0000005365" "00000321" "00" "520" "0" "520" "0" "c.520T>G" "" "p.(Trp174Gly)" "r.(?)" "" "" "" "" "" "-" "0000005365" "00000322" "00" "520" "0" "520" "0" "c.520T>G" "" "p.(Trp174Gly)" "r.(?)" "" "" "" "" "" "-" "0000005365" "00000323" "00" "430" "0" "430" "0" "c.430T>G" "" "p.(Trp144Gly)" "r.(?)" "" "" "" "" "" "-" "0000005365" "00000324" "00" "430" "0" "430" "0" "c.430T>G" "" "p.(Trp144Gly)" "r.(?)" "" "" "" "" "" "-" "0000005366" "00000320" "00" "852" "0" "852" "0" "n.852T>A" "" "" "" "" "" "" "" "" "-" "0000005366" "00000321" "00" "532" "0" "532" "0" "c.532T>A" "" "p.(Phe178Ile)" "r.(?)" "" "" "" "" "" "-" "0000005366" "00000322" "00" "532" "0" "532" "0" "c.532T>A" "" "p.(Phe178Ile)" "r.(?)" "" "" "" "" "" "-" "0000005366" "00000323" "00" "442" "0" "442" "0" "c.442T>A" "" "p.(Phe148Ile)" "r.(?)" "" "" "" "" "" "-" "0000005366" "00000324" "00" "442" "0" "442" "0" "c.442T>A" "" "p.(Phe148Ile)" "r.(?)" "" "" "" "" "" "-" "0000005367" "00000320" "00" "852" "0" "852" "0" "n.852T>C" "" "" "" "" "" "" "" "" "-" "0000005367" "00000321" "00" "532" "0" "532" "0" "c.532T>C" "" "p.(Phe178Leu)" "r.(?)" "" "" "" "" "" "-" "0000005367" "00000322" "00" "532" "0" "532" "0" "c.532T>C" "" "p.(Phe178Leu)" "r.(?)" "" "" "" "" "" "-" "0000005367" "00000323" "00" "442" "0" "442" "0" "c.442T>C" "" "p.(Phe148Leu)" "r.(?)" "" "" "" "" "" "-" "0000005367" "00000324" "00" "442" "0" "442" "0" "c.442T>C" "" "p.(Phe148Leu)" "r.(?)" "" "" "" "" "" "-" "0000005368" "00000320" "00" "855" "0" "855" "0" "n.855C>G" "" "" "" "" "" "" "" "" "-" "0000005368" "00000321" "00" "535" "0" "535" "0" "c.535C>G" "" "p.(Pro179Ala)" "r.(?)" "" "" "" "" "" "-" "0000005368" "00000322" "00" "535" "0" "535" "0" "c.535C>G" "" "p.(Pro179Ala)" "r.(?)" "" "" "" "" "" "-" "0000005368" "00000323" "00" "445" "0" "445" "0" "c.445C>G" "" "p.(Pro149Ala)" "r.(?)" "" "" "" "" "" "-" "0000005368" "00000324" "00" "445" "0" "445" "0" "c.445C>G" "" "p.(Pro149Ala)" "r.(?)" "" "" "" "" "" "-" "0000005369" "00000320" "00" "856" "0" "856" "0" "n.856del" "" "" "" "" "" "" "" "" "-" "0000005369" "00000321" "00" "536" "0" "536" "0" "c.536del" "" "p.(Pro179Glnfs*5)" "r.(?)" "" "" "" "" "" "-" "0000005369" "00000322" "00" "536" "0" "536" "0" "c.536del" "" "p.(Pro179Glnfs*7)" "r.(?)" "" "" "" "" "" "-" "0000005369" "00000323" "00" "446" "0" "446" "0" "c.446del" "" "p.(Pro149Glnfs*5)" "r.(?)" "" "" "" "" "" "-" "0000005369" "00000324" "00" "446" "0" "446" "0" "c.446del" "" "p.(Pro149Glnfs*7)" "r.(?)" "" "" "" "" "" "-" "0000005370" "00000320" "00" "861" "1" "861" "1" "n.861+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005370" "00000321" "00" "541" "1" "541" "1" "c.541+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005370" "00000322" "00" "541" "1" "541" "1" "c.541+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005370" "00000323" "00" "451" "1" "451" "1" "c.451+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005370" "00000324" "00" "451" "1" "451" "1" "c.451+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005371" "00000320" "00" "861" "1" "861" "1" "n.861+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005371" "00000321" "00" "541" "1" "541" "1" "c.541+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005371" "00000322" "00" "541" "1" "541" "1" "c.541+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005371" "00000323" "00" "451" "1" "451" "1" "c.451+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005371" "00000324" "00" "451" "1" "451" "1" "c.451+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005372" "00000320" "00" "862" "-7" "867" "0" "n.862-7_867del" "" "" "" "" "" "" "" "" "-" "0000005372" "00000321" "00" "542" "-7" "547" "0" "c.542-7_547del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000005372" "00000322" "00" "541" "75" "541" "87" "c.541+75_541+87del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005372" "00000323" "00" "452" "-7" "457" "0" "c.452-7_457del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000005372" "00000324" "00" "451" "75" "451" "87" "c.451+75_451+87del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005373" "00000320" "00" "862" "-20" "862" "-20" "n.862-20C>T" "" "" "" "" "" "" "" "" "-" "0000005373" "00000321" "00" "542" "-20" "542" "-20" "c.542-20C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005373" "00000322" "00" "541" "62" "541" "62" "c.541+62C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005373" "00000323" "00" "452" "-20" "452" "-20" "c.452-20C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005373" "00000324" "00" "451" "62" "451" "62" "c.451+62C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005374" "00000320" "00" "868" "0" "868" "0" "n.868T>G" "" "" "" "" "" "" "" "" "-" "0000005374" "00000321" "00" "548" "0" "548" "0" "c.548T>G" "" "p.(Val183Gly)" "r.(?)" "" "" "" "" "" "-" "0000005374" "00000322" "00" "541" "88" "541" "88" "c.541+88T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005374" "00000323" "00" "458" "0" "458" "0" "c.458T>G" "" "p.(Val153Gly)" "r.(?)" "" "" "" "" "" "-" "0000005374" "00000324" "00" "451" "88" "451" "88" "c.451+88T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005375" "00000320" "00" "873" "0" "873" "0" "n.873A>G" "" "" "" "" "" "" "" "" "-" "0000005375" "00000321" "00" "553" "0" "553" "0" "c.553A>G" "" "p.(Met185Val)" "r.(?)" "" "" "" "" "" "-" "0000005375" "00000322" "00" "541" "93" "541" "93" "c.541+93A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005375" "00000323" "00" "463" "0" "463" "0" "c.463A>G" "" "p.(Met155Val)" "r.(?)" "" "" "" "" "" "-" "0000005375" "00000324" "00" "451" "93" "451" "93" "c.451+93A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005376" "00000320" "00" "881" "0" "881" "0" "n.881C>T" "" "" "" "" "" "" "" "" "-" "0000005376" "00000321" "00" "561" "0" "561" "0" "c.561C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005376" "00000322" "00" "541" "101" "541" "101" "c.541+101C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005376" "00000323" "00" "471" "0" "471" "0" "c.471C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005376" "00000324" "00" "451" "101" "451" "101" "c.451+101C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005377" "00000320" "00" "882" "0" "882" "0" "n.882G>A" "" "" "" "" "" "" "" "" "-" "0000005377" "00000321" "00" "562" "0" "562" "0" "c.562G>A" "" "p.(Glu188Lys)" "r.(?)" "" "" "" "" "" "-" "0000005377" "00000322" "00" "541" "102" "541" "102" "c.541+102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005377" "00000323" "00" "472" "0" "472" "0" "c.472G>A" "" "p.(Glu158Lys)" "r.(?)" "" "" "" "" "" "-" "0000005377" "00000324" "00" "451" "102" "451" "102" "c.451+102G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005378" "00000320" "00" "882" "0" "882" "0" "n.882G>T" "" "" "" "" "" "" "" "" "-" "0000005378" "00000321" "00" "562" "0" "562" "0" "c.562G>T" "" "p.(Glu188*)" "r.(?)" "" "" "" "" "" "-" "0000005378" "00000322" "00" "541" "102" "541" "102" "c.541+102G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005378" "00000323" "00" "472" "0" "472" "0" "c.472G>T" "" "p.(Glu158*)" "r.(?)" "" "" "" "" "" "-" "0000005378" "00000324" "00" "451" "102" "451" "102" "c.451+102G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005379" "00000320" "00" "887" "0" "887" "0" "n.887C>T" "" "" "" "" "" "" "" "" "-" "0000005379" "00000321" "00" "567" "0" "567" "0" "c.567C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005379" "00000322" "00" "541" "107" "541" "107" "c.541+107C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005379" "00000323" "00" "477" "0" "477" "0" "c.477C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005379" "00000324" "00" "451" "107" "451" "107" "c.451+107C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005380" "00000320" "00" "901" "0" "902" "0" "n.901_902insT" "" "" "" "" "" "" "" "" "-" "0000005380" "00000321" "00" "581" "0" "582" "0" "c.581_582insT" "" "p.(Trp194Cysfs*9)" "r.(?)" "" "" "" "" "" "-" "0000005380" "00000322" "00" "541" "121" "541" "122" "c.541+121_541+122insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005380" "00000323" "00" "491" "0" "492" "0" "c.491_492insT" "" "p.(Trp164Cysfs*9)" "r.(?)" "" "" "" "" "" "-" "0000005380" "00000324" "00" "451" "121" "451" "122" "c.451+121_451+122insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005381" "00000320" "00" "901" "0" "901" "0" "n.901G>A" "" "" "" "" "" "" "" "" "-" "0000005381" "00000321" "00" "581" "0" "581" "0" "c.581G>A" "" "p.(Trp194*)" "r.(?)" "" "" "" "" "" "-" "0000005381" "00000322" "00" "541" "121" "541" "121" "c.541+121G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005381" "00000323" "00" "491" "0" "491" "0" "c.491G>A" "" "p.(Trp164*)" "r.(?)" "" "" "" "" "" "-" "0000005381" "00000324" "00" "451" "121" "451" "121" "c.451+121G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005382" "00000320" "00" "903" "1" "903" "1" "n.903+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005382" "00000321" "00" "583" "1" "583" "1" "c.583+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005382" "00000322" "00" "541" "124" "541" "124" "c.541+124G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005382" "00000323" "00" "493" "1" "493" "1" "c.493+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005382" "00000324" "00" "451" "124" "451" "124" "c.451+124G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005383" "00000320" "00" "903" "2" "903" "2" "n.903+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005383" "00000321" "00" "583" "2" "583" "2" "c.583+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005383" "00000322" "00" "541" "125" "541" "125" "c.541+125T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005383" "00000323" "00" "493" "2" "493" "2" "c.493+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005383" "00000324" "00" "451" "125" "451" "125" "c.451+125T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005384" "00000320" "00" "903" "5" "903" "5" "n.903+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005384" "00000321" "00" "583" "5" "583" "5" "c.583+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005384" "00000322" "00" "541" "128" "541" "128" "c.541+128G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005384" "00000323" "00" "493" "5" "493" "5" "c.493+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005384" "00000324" "00" "451" "128" "451" "128" "c.451+128G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005385" "00000320" "00" "903" "10" "903" "10" "n.903+10G>A" "" "" "" "" "" "" "" "" "-" "0000005385" "00000321" "00" "583" "10" "583" "10" "c.583+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005385" "00000322" "00" "541" "133" "541" "133" "c.541+133G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005385" "00000323" "00" "493" "10" "493" "10" "c.493+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005385" "00000324" "00" "451" "133" "451" "133" "c.451+133G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005386" "00000320" "00" "903" "24" "903" "24" "n.903+24A>T" "" "" "" "" "" "" "" "" "-" "0000005386" "00000321" "00" "583" "24" "583" "24" "c.583+24A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005386" "00000322" "00" "541" "147" "541" "147" "c.541+147A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005386" "00000323" "00" "493" "24" "493" "24" "c.493+24A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005386" "00000324" "00" "451" "147" "451" "147" "c.451+147A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005387" "00000320" "00" "904" "-138" "904" "-138" "n.904-138G>A" "" "" "" "" "" "" "" "" "-" "0000005387" "00000321" "00" "584" "-138" "584" "-138" "c.584-138G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005387" "00000322" "00" "542" "-138" "542" "-138" "c.542-138G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005387" "00000323" "00" "494" "-138" "494" "-138" "c.494-138G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005387" "00000324" "00" "452" "-138" "452" "-138" "c.452-138G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005388" "00000320" "00" "903" "0" "903" "0" "n.903G>A" "" "" "" "" "" "" "" "" "-" "0000005388" "00000321" "00" "583" "0" "583" "0" "c.583G>A" "" "p.(Gly195Arg)" "r.(?)" "" "" "" "" "" "-" "0000005388" "00000322" "00" "541" "123" "541" "123" "c.541+123G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005388" "00000323" "00" "493" "0" "493" "0" "c.493G>A" "" "p.(Gly165Arg)" "r.(?)" "" "" "" "" "" "-" "0000005388" "00000324" "00" "451" "123" "451" "123" "c.451+123G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005389" "00000320" "00" "903" "0" "903" "0" "n.903G>T" "" "" "" "" "" "" "" "" "-" "0000005389" "00000321" "00" "583" "0" "583" "0" "c.583G>T" "" "p.(Gly195*)" "r.(?)" "" "" "" "" "" "-" "0000005389" "00000322" "00" "541" "123" "541" "123" "c.541+123G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005389" "00000323" "00" "493" "0" "493" "0" "c.493G>T" "" "p.(Gly165*)" "r.(?)" "" "" "" "" "" "-" "0000005389" "00000324" "00" "451" "123" "451" "123" "c.451+123G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005390" "00000320" "00" "904" "-7" "904" "-7" "n.904-7T>C" "" "" "" "" "" "" "" "" "-" "0000005390" "00000321" "00" "584" "-7" "584" "-7" "c.584-7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005390" "00000322" "00" "542" "-7" "542" "-7" "c.542-7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005390" "00000323" "00" "494" "-7" "494" "-7" "c.494-7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005390" "00000324" "00" "452" "-7" "452" "-7" "c.452-7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005391" "00000320" "00" "904" "0" "904" "0" "n.904G>T" "" "" "" "" "" "" "" "" "-" "0000005391" "00000321" "00" "584" "0" "584" "0" "c.584G>T" "" "p.(Gly195Val)" "r.(?)" "" "" "" "" "" "-" "0000005391" "00000322" "00" "542" "0" "542" "0" "c.542G>T" "" "p.(Gly181Val)" "r.(?)" "" "" "" "" "" "-" "0000005391" "00000323" "00" "494" "0" "494" "0" "c.494G>T" "" "p.(Gly165Val)" "r.(?)" "" "" "" "" "" "-" "0000005391" "00000324" "00" "452" "0" "452" "0" "c.452G>T" "" "p.(Gly151Val)" "r.(?)" "" "" "" "" "" "-" "0000005392" "00000320" "00" "909" "0" "909" "0" "n.909G>A" "" "" "" "" "" "" "" "" "-" "0000005392" "00000321" "00" "589" "0" "589" "0" "c.589G>A" "" "p.(Gly197Arg)" "r.(?)" "" "" "" "" "" "-" "0000005392" "00000322" "00" "547" "0" "547" "0" "c.547G>A" "" "p.(Gly183Arg)" "r.(?)" "" "" "" "" "" "-" "0000005392" "00000323" "00" "499" "0" "499" "0" "c.499G>A" "" "p.(Gly167Arg)" "r.(?)" "" "" "" "" "" "-" "0000005392" "00000324" "00" "457" "0" "457" "0" "c.457G>A" "" "p.(Gly153Arg)" "r.(?)" "" "" "" "" "" "-" "0000005393" "00000320" "00" "909" "0" "909" "0" "n.909G>T" "" "" "" "" "" "" "" "" "-" "0000005393" "00000321" "00" "589" "0" "589" "0" "c.589G>T" "" "p.(Gly197Trp)" "r.(?)" "" "" "" "" "" "-" "0000005393" "00000322" "00" "547" "0" "547" "0" "c.547G>T" "" "p.(Gly183Trp)" "r.(?)" "" "" "" "" "" "-" "0000005393" "00000323" "00" "499" "0" "499" "0" "c.499G>T" "" "p.(Gly167Trp)" "r.(?)" "" "" "" "" "" "-" "0000005393" "00000324" "00" "457" "0" "457" "0" "c.457G>T" "" "p.(Gly153Trp)" "r.(?)" "" "" "" "" "" "-" "0000005394" "00000320" "00" "910" "0" "910" "0" "n.910G>A" "" "" "" "" "" "" "" "" "-" "0000005394" "00000321" "00" "590" "0" "590" "0" "c.590G>A" "" "p.(Gly197Glu)" "r.(?)" "" "" "" "" "" "-" "0000005394" "00000322" "00" "548" "0" "548" "0" "c.548G>A" "" "p.(Gly183Glu)" "r.(?)" "" "" "" "" "" "-" "0000005394" "00000323" "00" "500" "0" "500" "0" "c.500G>A" "" "p.(Gly167Glu)" "r.(?)" "" "" "" "" "" "-" "0000005394" "00000324" "00" "458" "0" "458" "0" "c.458G>A" "" "p.(Gly153Glu)" "r.(?)" "" "" "" "" "" "-" "0000005395" "00000320" "00" "910" "0" "910" "0" "n.910G>T" "" "" "" "" "" "" "" "" "-" "0000005395" "00000321" "00" "590" "0" "590" "0" "c.590G>T" "" "p.(Gly197Val)" "r.(?)" "" "" "" "" "" "-" "0000005395" "00000322" "00" "548" "0" "548" "0" "c.548G>T" "" "p.(Gly183Val)" "r.(?)" "" "" "" "" "" "-" "0000005395" "00000323" "00" "500" "0" "500" "0" "c.500G>T" "" "p.(Gly167Val)" "r.(?)" "" "" "" "" "" "-" "0000005395" "00000324" "00" "458" "0" "458" "0" "c.458G>T" "" "p.(Gly153Val)" "r.(?)" "" "" "" "" "" "-" "0000005396" "00000320" "00" "911" "0" "911" "0" "n.911G>T" "" "" "" "" "" "" "" "" "-" "0000005396" "00000321" "00" "591" "0" "591" "0" "c.591G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005396" "00000322" "00" "549" "0" "549" "0" "c.549G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005396" "00000323" "00" "501" "0" "501" "0" "c.501G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005396" "00000324" "00" "459" "0" "459" "0" "c.459G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005397" "00000320" "00" "913" "0" "913" "0" "n.913G>A" "" "" "" "" "" "" "" "" "-" "0000005397" "00000321" "00" "593" "0" "593" "0" "c.593G>A" "" "p.(Arg198His)" "r.(?)" "" "" "" "" "" "-" "0000005397" "00000322" "00" "551" "0" "551" "0" "c.551G>A" "" "p.(Arg184His)" "r.(?)" "" "" "" "" "" "-" "0000005397" "00000323" "00" "503" "0" "503" "0" "c.503G>A" "" "p.(Arg168His)" "r.(?)" "" "" "" "" "" "-" "0000005397" "00000324" "00" "461" "0" "461" "0" "c.461G>A" "" "p.(Arg154His)" "r.(?)" "" "" "" "" "" "-" "0000005398" "00000320" "00" "923" "0" "925" "0" "n.923_925del" "" "" "" "" "" "" "" "" "-" "0000005398" "00000321" "00" "603" "0" "605" "0" "c.603_605del" "" "p.(Glu202del)" "r.(?)" "" "" "" "" "" "-" "0000005398" "00000322" "00" "561" "0" "563" "0" "c.561_563del" "" "p.(Glu188del)" "r.(?)" "" "" "" "" "" "-" "0000005398" "00000323" "00" "513" "0" "515" "0" "c.513_515del" "" "p.(Glu172del)" "r.(?)" "" "" "" "" "" "-" "0000005398" "00000324" "00" "471" "0" "473" "0" "c.471_473del" "" "p.(Glu158del)" "r.(?)" "" "" "" "" "" "-" "0000005399" "00000320" "00" "925" "0" "928" "0" "n.925_928del" "" "" "" "" "" "" "" "" "-" "0000005399" "00000321" "00" "605" "0" "608" "0" "c.605_608del" "" "p.(Glu202Valfs*15)" "r.(?)" "" "" "" "" "" "-" "0000005399" "00000322" "00" "563" "0" "566" "0" "c.563_566del" "" "p.(Glu188Valfs*15)" "r.(?)" "" "" "" "" "" "-" "0000005399" "00000323" "00" "515" "0" "518" "0" "c.515_518del" "" "p.(Glu172Valfs*15)" "r.(?)" "" "" "" "" "" "-" "0000005399" "00000324" "00" "473" "0" "476" "0" "c.473_476del" "" "p.(Glu158Valfs*15)" "r.(?)" "" "" "" "" "" "-" "0000005400" "00000320" "00" "946" "0" "946" "0" "n.946T>A" "" "" "" "" "" "" "" "" "-" "0000005400" "00000321" "00" "626" "0" "626" "0" "c.626T>A" "" "p.(Ile209Asn)" "r.(?)" "" "" "" "" "" "-" "0000005400" "00000322" "00" "584" "0" "584" "0" "c.584T>A" "" "p.(Ile195Asn)" "r.(?)" "" "" "" "" "" "-" "0000005400" "00000323" "00" "536" "0" "536" "0" "c.536T>A" "" "p.(Ile179Asn)" "r.(?)" "" "" "" "" "" "-" "0000005400" "00000324" "00" "494" "0" "494" "0" "c.494T>A" "" "p.(Ile165Asn)" "r.(?)" "" "" "" "" "" "-" "0000005401" "00000320" "00" "949" "0" "949" "0" "n.949T>G" "" "" "" "" "" "" "" "" "-" "0000005401" "00000321" "00" "629" "0" "629" "0" "c.629T>G" "" "p.(Leu210Arg)" "r.(?)" "" "" "" "" "" "-" "0000005401" "00000322" "00" "587" "0" "587" "0" "c.587T>G" "" "p.(Leu196Arg)" "r.(?)" "" "" "" "" "" "-" "0000005401" "00000323" "00" "539" "0" "539" "0" "c.539T>G" "" "p.(Leu180Arg)" "r.(?)" "" "" "" "" "" "-" "0000005401" "00000324" "00" "497" "0" "497" "0" "c.497T>G" "" "p.(Leu166Arg)" "r.(?)" "" "" "" "" "" "-" "0000005402" "00000320" "00" "954" "0" "954" "0" "n.954del" "" "" "" "" "" "" "" "" "-" "0000005402" "00000321" "00" "634" "0" "634" "0" "c.634del" "" "p.(Leu212Cysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005402" "00000322" "00" "592" "0" "592" "0" "c.592del" "" "p.(Leu198Cysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005402" "00000323" "00" "544" "0" "544" "0" "c.544del" "" "p.(Leu182Cysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005402" "00000324" "00" "502" "0" "502" "0" "c.502del" "" "p.(Leu168Cysfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005403" "00000320" "00" "955" "0" "955" "0" "n.955T>C" "" "" "" "" "" "" "" "" "-" "0000005403" "00000321" "00" "635" "0" "635" "0" "c.635T>C" "" "p.(Leu212Pro)" "r.(?)" "" "" "" "" "" "-" "0000005403" "00000322" "00" "593" "0" "593" "0" "c.593T>C" "" "p.(Leu198Pro)" "r.(?)" "" "" "" "" "" "-" "0000005403" "00000323" "00" "545" "0" "545" "0" "c.545T>C" "" "p.(Leu182Pro)" "r.(?)" "" "" "" "" "" "-" "0000005403" "00000324" "00" "503" "0" "503" "0" "c.503T>C" "" "p.(Leu168Pro)" "r.(?)" "" "" "" "" "" "-" "0000005404" "00000320" "00" "961" "0" "961" "0" "n.961A>G" "" "" "" "" "" "" "" "" "-" "0000005404" "00000321" "00" "641" "0" "641" "0" "c.641A>G" "" "p.(His214Arg)" "r.(?)" "" "" "" "" "" "-" "0000005404" "00000322" "00" "599" "0" "599" "0" "c.599A>G" "" "p.(His200Arg)" "r.(?)" "" "" "" "" "" "-" "0000005404" "00000323" "00" "551" "0" "551" "0" "c.551A>G" "" "p.(His184Arg)" "r.(?)" "" "" "" "" "" "-" "0000005404" "00000324" "00" "509" "0" "509" "0" "c.509A>G" "" "p.(His170Arg)" "r.(?)" "" "" "" "" "" "-" "0000005405" "00000320" "00" "965" "0" "965" "0" "n.965C>T" "" "" "" "" "" "" "" "" "-" "0000005405" "00000321" "00" "645" "0" "645" "0" "c.645C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005405" "00000322" "00" "603" "0" "603" "0" "c.603C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005405" "00000323" "00" "555" "0" "555" "0" "c.555C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005405" "00000324" "00" "513" "0" "513" "0" "c.513C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005406" "00000320" "00" "966" "0" "966" "0" "n.966G>A" "" "" "" "" "" "" "" "" "-" "0000005406" "00000321" "00" "646" "0" "646" "0" "c.646G>A" "" "p.(Gly216Arg)" "r.(?)" "" "" "" "" "" "-" "0000005406" "00000322" "00" "604" "0" "604" "0" "c.604G>A" "" "p.(Gly202Arg)" "r.(?)" "" "" "" "" "" "-" "0000005406" "00000323" "00" "556" "0" "556" "0" "c.556G>A" "" "p.(Gly186Arg)" "r.(?)" "" "" "" "" "" "-" "0000005406" "00000324" "00" "514" "0" "514" "0" "c.514G>A" "" "p.(Gly172Arg)" "r.(?)" "" "" "" "" "" "-" "0000005407" "00000320" "00" "966" "0" "966" "0" "n.966del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005407" "00000321" "00" "646" "0" "646" "0" "c.646del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005407" "00000322" "00" "604" "0" "604" "0" "c.604del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005407" "00000323" "00" "556" "0" "556" "0" "c.556del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005407" "00000324" "00" "514" "0" "514" "0" "c.514del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005408" "00000320" "00" "966" "0" "966" "0" "n.966G>C" "" "" "" "" "" "" "" "" "-" "0000005408" "00000321" "00" "646" "0" "646" "0" "c.646G>C" "" "p.(Gly216Arg)" "r.(?)" "" "" "" "" "" "-" "0000005408" "00000322" "00" "604" "0" "604" "0" "c.604G>C" "" "p.(Gly202Arg)" "r.(?)" "" "" "" "" "" "-" "0000005408" "00000323" "00" "556" "0" "556" "0" "c.556G>C" "" "p.(Gly186Arg)" "r.(?)" "" "" "" "" "" "-" "0000005408" "00000324" "00" "514" "0" "514" "0" "c.514G>C" "" "p.(Gly172Arg)" "r.(?)" "" "" "" "" "" "-" "0000005409" "00000320" "00" "967" "-1" "967" "-1" "n.967-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005409" "00000321" "00" "647" "-1" "647" "-1" "c.647-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005409" "00000322" "00" "605" "-1" "605" "-1" "c.605-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005409" "00000323" "00" "557" "-1" "557" "-1" "c.557-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005409" "00000324" "00" "515" "-1" "515" "-1" "c.515-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005410" "00000320" "00" "967" "-42" "967" "-42" "n.967-42C>T" "" "" "" "" "" "" "" "" "-" "0000005410" "00000321" "00" "647" "-42" "647" "-42" "c.647-42C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005410" "00000322" "00" "605" "-42" "605" "-42" "c.605-42C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005410" "00000323" "00" "557" "-42" "557" "-42" "c.557-42C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005410" "00000324" "00" "515" "-42" "515" "-42" "c.515-42C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005411" "00000320" "00" "967" "0" "967" "0" "n.967G>T" "" "" "" "" "" "" "" "" "-" "0000005411" "00000321" "00" "647" "0" "647" "0" "c.647G>T" "" "p.(Gly216Val)" "r.(?)" "" "" "" "" "" "-" "0000005411" "00000322" "00" "605" "0" "605" "0" "c.605G>T" "" "p.(Gly202Val)" "r.(?)" "" "" "" "" "" "-" "0000005411" "00000323" "00" "557" "0" "557" "0" "c.557G>T" "" "p.(Gly186Val)" "r.(?)" "" "" "" "" "" "-" "0000005411" "00000324" "00" "515" "0" "515" "0" "c.515G>T" "" "p.(Gly172Val)" "r.(?)" "" "" "" "" "" "-" "0000005412" "00000320" "00" "975" "0" "976" "0" "n.975_976insGAAT" "" "" "" "" "" "" "" "" "-" "0000005412" "00000321" "00" "655" "0" "656" "0" "c.655_656insGAAT" "" "p.(Asp219Glyfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005412" "00000322" "00" "613" "0" "614" "0" "c.613_614insGAAT" "" "p.(Asp205Glyfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005412" "00000323" "00" "565" "0" "566" "0" "c.565_566insGAAT" "" "p.(Asp189Glyfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005412" "00000324" "00" "523" "0" "524" "0" "c.523_524insGAAT" "" "p.(Asp175Glyfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005413" "00000320" "00" "977" "0" "977" "0" "n.977C>T" "" "" "" "" "" "" "" "" "-" "0000005413" "00000321" "00" "657" "0" "657" "0" "c.657C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005413" "00000322" "00" "615" "0" "615" "0" "c.615C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005413" "00000323" "00" "567" "0" "567" "0" "c.567C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005413" "00000324" "00" "525" "0" "525" "0" "c.525C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005414" "00000320" "00" "981" "0" "982" "0" "n.981_982insGTCC" "" "" "" "" "" "" "" "" "-" "0000005414" "00000321" "00" "661" "0" "662" "0" "c.661_662insGTCC" "" "p.(Leu221Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000005414" "00000322" "00" "619" "0" "620" "0" "c.619_620insGTCC" "" "p.(Leu207Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000005414" "00000323" "00" "571" "0" "572" "0" "c.571_572insGTCC" "" "p.(Leu191Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000005414" "00000324" "00" "529" "0" "530" "0" "c.529_530insGTCC" "" "p.(Leu177Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000005415" "00000320" "00" "994" "0" "994" "0" "n.994C>T" "" "" "" "" "" "" "" "" "-" "0000005415" "00000321" "00" "674" "0" "674" "0" "c.674C>T" "" "p.(Pro225Leu)" "r.(?)" "" "" "" "" "" "-" "0000005415" "00000322" "00" "632" "0" "632" "0" "c.632C>T" "" "p.(Pro211Leu)" "r.(?)" "" "" "" "" "" "-" "0000005415" "00000323" "00" "584" "0" "584" "0" "c.584C>T" "" "p.(Pro195Leu)" "r.(?)" "" "" "" "" "" "-" "0000005415" "00000324" "00" "542" "0" "542" "0" "c.542C>T" "" "p.(Pro181Leu)" "r.(?)" "" "" "" "" "" "-" "0000005416" "00000320" "00" "995" "0" "995" "0" "n.995G>A" "" "" "" "" "" "" "" "" "-" "0000005416" "00000321" "00" "675" "0" "675" "0" "c.675G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005416" "00000322" "00" "633" "0" "633" "0" "c.633G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005416" "00000323" "00" "585" "0" "585" "0" "c.585G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005416" "00000324" "00" "543" "0" "543" "0" "c.543G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005417" "00000320" "00" "998" "0" "1011" "0" "n.998_1011del" "" "" "" "" "" "" "" "" "-" "0000005417" "00000321" "00" "678" "0" "691" "0" "c.678_691del" "" "p.(Tyr227Trpfs*79)" "r.(?)" "" "" "" "" "" "-" "0000005417" "00000322" "00" "636" "0" "649" "0" "c.636_649del" "" "p.(Tyr213Trpfs*79)" "r.(?)" "" "" "" "" "" "-" "0000005417" "00000323" "00" "588" "0" "601" "0" "c.588_601del" "" "p.(Tyr197Trpfs*79)" "r.(?)" "" "" "" "" "" "-" "0000005417" "00000324" "00" "546" "0" "559" "0" "c.546_559del" "" "p.(Tyr183Trpfs*79)" "r.(?)" "" "" "" "" "" "-" "0000005418" "00000320" "00" "1006" "0" "1010" "0" "n.1006_1010del" "" "" "" "" "" "" "" "" "-" "0000005418" "00000321" "00" "686" "0" "690" "0" "c.686_690del" "" "p.(Pro229Leufs*80)" "r.(?)" "" "" "" "" "" "-" "0000005418" "00000322" "00" "644" "0" "648" "0" "c.644_648del" "" "p.(Pro215Leufs*80)" "r.(?)" "" "" "" "" "" "-" "0000005418" "00000323" "00" "596" "0" "600" "0" "c.596_600del" "" "p.(Pro199Leufs*80)" "r.(?)" "" "" "" "" "" "-" "0000005418" "00000324" "00" "554" "0" "558" "0" "c.554_558del" "" "p.(Pro185Leufs*80)" "r.(?)" "" "" "" "" "" "-" "0000005419" "00000320" "00" "1008" "0" "1008" "0" "n.1008del" "" "" "" "" "" "" "" "" "-" "0000005419" "00000321" "00" "688" "0" "688" "0" "c.688del" "" "p.(Arg230Alafs*9)" "r.(?)" "" "" "" "" "" "-" "0000005419" "00000322" "00" "646" "0" "646" "0" "c.646del" "" "p.(Arg216Alafs*9)" "r.(?)" "" "" "" "" "" "-" "0000005419" "00000323" "00" "598" "0" "598" "0" "c.598del" "" "p.(Arg200Alafs*9)" "r.(?)" "" "" "" "" "" "-" "0000005419" "00000324" "00" "556" "0" "556" "0" "c.556del" "" "p.(Arg186Alafs*9)" "r.(?)" "" "" "" "" "" "-" "0000005420" "00000320" "00" "1014" "0" "1014" "0" "n.1014G>T" "" "" "" "" "" "" "" "" "-" "0000005420" "00000321" "00" "694" "0" "694" "0" "c.694G>T" "" "p.(Gly232*)" "r.(?)" "" "" "" "" "" "-" "0000005420" "00000322" "00" "652" "0" "652" "0" "c.652G>T" "" "p.(Gly218*)" "r.(?)" "" "" "" "" "" "-" "0000005420" "00000323" "00" "604" "0" "604" "0" "c.604G>T" "" "p.(Gly202*)" "r.(?)" "" "" "" "" "" "-" "0000005420" "00000324" "00" "562" "0" "562" "0" "c.562G>T" "" "p.(Gly188*)" "r.(?)" "" "" "" "" "" "-" "0000005421" "00000320" "00" "1017" "0" "1017" "0" "n.1017C>T" "" "" "" "" "" "" "" "" "-" "0000005421" "00000321" "00" "697" "0" "697" "0" "c.697C>T" "" "p.(Gln233*)" "r.(?)" "" "" "" "" "" "-" "0000005421" "00000322" "00" "655" "0" "655" "0" "c.655C>T" "" "p.(Gln219*)" "r.(?)" "" "" "" "" "" "-" "0000005421" "00000323" "00" "607" "0" "607" "0" "c.607C>T" "" "p.(Gln203*)" "r.(?)" "" "" "" "" "" "-" "0000005421" "00000324" "00" "565" "0" "565" "0" "c.565C>T" "" "p.(Gln189*)" "r.(?)" "" "" "" "" "" "-" "0000005422" "00000320" "00" "1019" "1" "1019" "1" "n.1019+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005422" "00000321" "00" "699" "1" "699" "1" "c.699+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005422" "00000322" "00" "657" "1" "657" "1" "c.657+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005422" "00000323" "00" "609" "1" "609" "1" "c.609+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005422" "00000324" "00" "567" "1" "567" "1" "c.567+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005423" "00000320" "00" "1019" "47" "1019" "47" "n.1019+47G>A" "" "" "" "" "" "" "" "" "-" "0000005423" "00000321" "00" "699" "47" "699" "47" "c.699+47G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005423" "00000322" "00" "657" "47" "657" "47" "c.657+47G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005423" "00000323" "00" "609" "47" "609" "47" "c.609+47G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005423" "00000324" "00" "567" "47" "567" "47" "c.567+47G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005424" "00000320" "00" "1020" "-1" "1020" "-1" "n.1020-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005424" "00000321" "00" "700" "-1" "700" "-1" "c.700-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005424" "00000322" "00" "658" "-1" "658" "-1" "c.658-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005424" "00000323" "00" "610" "-1" "610" "-1" "c.610-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005424" "00000324" "00" "568" "-1" "568" "-1" "c.568-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005425" "00000320" "00" "1020" "-2" "1020" "-2" "n.1020-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005425" "00000321" "00" "700" "-2" "700" "-2" "c.700-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005425" "00000322" "00" "658" "-2" "658" "-2" "c.658-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005425" "00000323" "00" "610" "-2" "610" "-2" "c.610-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005425" "00000324" "00" "568" "-2" "568" "-2" "c.568-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005426" "00000320" "00" "1023" "0" "1023" "0" "n.1023dup" "" "" "" "" "" "" "" "" "-" "0000005426" "00000321" "00" "703" "0" "703" "0" "c.703dup" "" "p.(Ile235Asnfs*76)" "r.(?)" "" "" "" "" "" "-" "0000005426" "00000322" "00" "661" "0" "661" "0" "c.661dup" "" "p.(Ile221Asnfs*76)" "r.(?)" "" "" "" "" "" "-" "0000005426" "00000323" "00" "613" "0" "613" "0" "c.613dup" "" "p.(Ile205Asnfs*76)" "r.(?)" "" "" "" "" "" "-" "0000005426" "00000324" "00" "571" "0" "571" "0" "c.571dup" "" "p.(Ile191Asnfs*76)" "r.(?)" "" "" "" "" "" "-" "0000005427" "00000320" "00" "1030" "0" "1031" "0" "n.1030_1031del" "" "" "" "" "" "" "" "" "-" "0000005427" "00000321" "00" "710" "0" "711" "0" "c.710_711del" "" "p.(Val237Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000005427" "00000322" "00" "668" "0" "669" "0" "c.668_669del" "" "p.(Val223Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000005427" "00000323" "00" "620" "0" "621" "0" "c.620_621del" "" "p.(Val207Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000005427" "00000324" "00" "578" "0" "579" "0" "c.578_579del" "" "p.(Val193Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000005428" "00000320" "00" "1038" "0" "1038" "0" "n.1038G>A" "" "" "" "" "" "" "" "" "-" "0000005428" "00000321" "00" "718" "0" "718" "0" "c.718G>A" "" "p.(Gly240Arg)" "r.(?)" "" "" "" "" "" "-" "0000005428" "00000322" "00" "676" "0" "676" "0" "c.676G>A" "" "p.(Gly226Arg)" "r.(?)" "" "" "" "" "" "-" "0000005428" "00000323" "00" "628" "0" "628" "0" "c.628G>A" "" "p.(Gly210Arg)" "r.(?)" "" "" "" "" "" "-" "0000005428" "00000324" "00" "586" "0" "586" "0" "c.586G>A" "" "p.(Gly196Arg)" "r.(?)" "" "" "" "" "" "-" "0000005429" "00000320" "00" "1038" "0" "1038" "0" "n.1038G>C" "" "" "" "" "" "" "" "" "-" "0000005429" "00000321" "00" "718" "0" "718" "0" "c.718G>C" "" "p.(Gly240Arg)" "r.(?)" "" "" "" "" "" "-" "0000005429" "00000322" "00" "676" "0" "676" "0" "c.676G>C" "" "p.(Gly226Arg)" "r.(?)" "" "" "" "" "" "-" "0000005429" "00000323" "00" "628" "0" "628" "0" "c.628G>C" "" "p.(Gly210Arg)" "r.(?)" "" "" "" "" "" "-" "0000005429" "00000324" "00" "586" "0" "586" "0" "c.586G>C" "" "p.(Gly196Arg)" "r.(?)" "" "" "" "" "" "-" "0000005430" "00000320" "00" "1055" "0" "1056" "0" "n.1055_1056insCCCT" "" "" "" "" "" "" "" "" "-" "0000005430" "00000321" "00" "735" "0" "736" "0" "c.735_736insCCCT" "" "p.(Leu246Profs*66)" "r.(?)" "" "" "" "" "" "-" "0000005430" "00000322" "00" "693" "0" "694" "0" "c.693_694insCCCT" "" "p.(Leu232Profs*66)" "r.(?)" "" "" "" "" "" "-" "0000005430" "00000323" "00" "645" "0" "646" "0" "c.645_646insCCCT" "" "p.(Leu216Profs*66)" "r.(?)" "" "" "" "" "" "-" "0000005430" "00000324" "00" "603" "0" "604" "0" "c.603_604insCCCT" "" "p.(Leu202Profs*66)" "r.(?)" "" "" "" "" "" "-" "0000005431" "00000320" "00" "1058" "0" "1058" "0" "n.1058dup" "" "" "" "" "" "" "" "" "-" "0000005431" "00000321" "00" "738" "0" "738" "0" "c.738dup" "" "p.(Pro247Alafs*64)" "r.(?)" "" "" "" "" "" "-" "0000005431" "00000322" "00" "696" "0" "696" "0" "c.696dup" "" "p.(Pro233Alafs*64)" "r.(?)" "" "" "" "" "" "-" "0000005431" "00000323" "00" "648" "0" "648" "0" "c.648dup" "" "p.(Pro217Alafs*64)" "r.(?)" "" "" "" "" "" "-" "0000005431" "00000324" "00" "606" "0" "606" "0" "c.606dup" "" "p.(Pro203Alafs*64)" "r.(?)" "" "" "" "" "" "-" "0000005432" "00000320" "00" "1067" "0" "1067" "0" "n.1067C>T" "" "" "" "" "" "" "" "" "-" "0000005432" "00000321" "00" "747" "0" "747" "0" "c.747C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005432" "00000322" "00" "705" "0" "705" "0" "c.705C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005432" "00000323" "00" "657" "0" "657" "0" "c.657C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005432" "00000324" "00" "615" "0" "615" "0" "c.615C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005434" "00000320" "00" "1068" "0" "1068" "0" "n.1068G>T" "" "" "" "" "" "" "" "" "-" "0000005434" "00000321" "00" "748" "0" "748" "0" "c.748G>T" "" "p.(Glu250*)" "r.(?)" "" "" "" "" "" "-" "0000005434" "00000322" "00" "706" "0" "706" "0" "c.706G>T" "" "p.(Glu236*)" "r.(?)" "" "" "" "" "" "-" "0000005434" "00000323" "00" "658" "0" "658" "0" "c.658G>T" "" "p.(Glu220*)" "r.(?)" "" "" "" "" "" "-" "0000005434" "00000324" "00" "616" "0" "616" "0" "c.616G>T" "" "p.(Glu206*)" "r.(?)" "" "" "" "" "" "-" "0000005435" "00000320" "00" "1072" "0" "1072" "0" "n.1072G>T" "" "" "" "" "" "" "" "" "-" "0000005435" "00000321" "00" "752" "0" "752" "0" "c.752G>T" "" "p.(Arg251Leu)" "r.(?)" "" "" "" "" "" "-" "0000005435" "00000322" "00" "710" "0" "710" "0" "c.710G>T" "" "p.(Arg237Leu)" "r.(?)" "" "" "" "" "" "-" "0000005435" "00000323" "00" "662" "0" "662" "0" "c.662G>T" "" "p.(Arg221Leu)" "r.(?)" "" "" "" "" "" "-" "0000005435" "00000324" "00" "620" "0" "620" "0" "c.620G>T" "" "p.(Arg207Leu)" "r.(?)" "" "" "" "" "" "-" "0000005436" "00000320" "00" "1081" "0" "1081" "0" "n.1081C>T" "" "" "" "" "" "" "" "" "-" "0000005436" "00000321" "00" "761" "0" "761" "0" "c.761C>T" "" "p.(Ala254Val)" "r.(?)" "" "" "" "" "" "-" "0000005436" "00000322" "00" "719" "0" "719" "0" "c.719C>T" "" "p.(Ala240Val)" "r.(?)" "" "" "" "" "" "-" "0000005436" "00000323" "00" "671" "0" "671" "0" "c.671C>T" "" "p.(Ala224Val)" "r.(?)" "" "" "" "" "" "-" "0000005436" "00000324" "00" "629" "0" "629" "0" "c.629C>T" "" "p.(Ala210Val)" "r.(?)" "" "" "" "" "" "-" "0000005437" "00000320" "00" "1091" "0" "1091" "0" "n.1091G>A" "" "" "" "" "" "" "" "" "-" "0000005437" "00000321" "00" "771" "0" "771" "0" "c.771G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005437" "00000322" "00" "729" "0" "729" "0" "c.729G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005437" "00000323" "00" "681" "0" "681" "0" "c.681G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005437" "00000324" "00" "639" "0" "639" "0" "c.639G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005438" "00000320" "00" "1093" "0" "1093" "0" "n.1093C>A" "" "" "" "" "" "" "" "" "-" "0000005438" "00000321" "00" "773" "0" "773" "0" "c.773C>A" "" "p.(Ser258*)" "r.(?)" "" "" "" "" "" "-" "0000005438" "00000322" "00" "731" "0" "731" "0" "c.731C>A" "" "p.(Ser244*)" "r.(?)" "" "" "" "" "" "-" "0000005438" "00000323" "00" "683" "0" "683" "0" "c.683C>A" "" "p.(Ser228*)" "r.(?)" "" "" "" "" "" "-" "0000005438" "00000324" "00" "641" "0" "641" "0" "c.641C>A" "" "p.(Ser214*)" "r.(?)" "" "" "" "" "" "-" "0000005439" "00000320" "00" "1097" "1" "1097" "1" "n.1097+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005439" "00000321" "00" "777" "1" "777" "1" "c.777+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005439" "00000322" "00" "735" "1" "735" "1" "c.735+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005439" "00000323" "00" "687" "1" "687" "1" "c.687+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005439" "00000324" "00" "645" "1" "645" "1" "c.645+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005440" "00000320" "00" "1097" "2" "1097" "2" "n.1097+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005440" "00000321" "00" "777" "2" "777" "2" "c.777+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005440" "00000322" "00" "735" "2" "735" "2" "c.735+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005440" "00000323" "00" "687" "2" "687" "2" "c.687+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005440" "00000324" "00" "645" "2" "645" "2" "c.645+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005441" "00000320" "00" "1098" "-1" "1098" "-1" "n.1098-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005441" "00000321" "00" "778" "-1" "778" "-1" "c.778-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005441" "00000322" "00" "736" "-1" "736" "-1" "c.736-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005441" "00000323" "00" "688" "-1" "688" "-1" "c.688-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005441" "00000324" "00" "646" "-1" "646" "-1" "c.646-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005442" "00000320" "00" "1098" "-2" "1098" "-2" "n.1098-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005442" "00000321" "00" "778" "-2" "778" "-2" "c.778-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005442" "00000322" "00" "736" "-2" "736" "-2" "c.736-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005442" "00000323" "00" "688" "-2" "688" "-2" "c.688-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005442" "00000324" "00" "646" "-2" "646" "-2" "c.646-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005443" "00000320" "00" "1098" "-24" "1098" "-7" "n.1098-24_1098-7delinsA" "" "" "" "" "" "" "" "" "-" "0000005443" "00000321" "00" "778" "-24" "778" "-7" "c.778-24_778-7delinsA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005443" "00000322" "00" "736" "-24" "736" "-7" "c.736-24_736-7delinsA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005443" "00000323" "00" "688" "-24" "688" "-7" "c.688-24_688-7delinsA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005443" "00000324" "00" "646" "-24" "646" "-7" "c.646-24_646-7delinsA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005444" "00000320" "00" "1120" "0" "1138" "0" "n.1120_1138delinsGGG" "" "" "" "" "" "" "" "" "-" "0000005444" "00000321" "00" "800" "0" "818" "0" "c.800_818delinsGGG" "" "p.(Thr267Argfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005444" "00000322" "00" "758" "0" "776" "0" "c.758_776delinsGGG" "" "p.(Thr253Argfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005444" "00000323" "00" "710" "0" "728" "0" "c.710_728delinsGGG" "" "p.(Thr237Argfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005444" "00000324" "00" "668" "0" "686" "0" "c.668_686delinsGGG" "" "p.(Thr223Argfs*6)" "r.(?)" "" "" "" "" "" "-" "0000005445" "00000320" "00" "1143" "0" "1143" "0" "n.1143C>T" "" "" "" "" "" "" "" "" "-" "0000005445" "00000321" "00" "823" "0" "823" "0" "c.823C>T" "" "p.(Gln275*)" "r.(?)" "" "" "" "" "" "-" "0000005445" "00000322" "00" "781" "0" "781" "0" "c.781C>T" "" "p.(Gln261*)" "r.(?)" "" "" "" "" "" "-" "0000005445" "00000323" "00" "733" "0" "733" "0" "c.733C>T" "" "p.(Gln245*)" "r.(?)" "" "" "" "" "" "-" "0000005445" "00000324" "00" "691" "0" "691" "0" "c.691C>T" "" "p.(Gln231*)" "r.(?)" "" "" "" "" "" "-" "0000005446" "00000320" "00" "1157" "0" "1158" "0" "n.1157_1158del" "" "" "" "" "" "" "" "" "-" "0000005446" "00000321" "00" "837" "0" "838" "0" "c.837_838del" "" "p.(Gln280Glyfs*30)" "r.(?)" "" "" "" "" "" "-" "0000005446" "00000322" "00" "795" "0" "796" "0" "c.795_796del" "" "p.(Gln266Glyfs*30)" "r.(?)" "" "" "" "" "" "-" "0000005446" "00000323" "00" "747" "0" "748" "0" "c.747_748del" "" "p.(Gln250Glyfs*30)" "r.(?)" "" "" "" "" "" "-" "0000005446" "00000324" "00" "705" "0" "706" "0" "c.705_706del" "" "p.(Gln236Glyfs*30)" "r.(?)" "" "" "" "" "" "-" "0000005447" "00000320" "00" "1193" "0" "1193" "0" "n.1193del" "" "" "" "" "" "" "" "" "-" "0000005447" "00000321" "00" "873" "0" "873" "0" "c.873del" "" "p.(Arg292Aspfs*47)" "r.(?)" "" "" "" "" "" "-" "0000005447" "00000322" "00" "831" "0" "831" "0" "c.831del" "" "p.(Arg278Aspfs*47)" "r.(?)" "" "" "" "" "" "-" "0000005447" "00000323" "00" "783" "0" "783" "0" "c.783del" "" "p.(Arg262Aspfs*47)" "r.(?)" "" "" "" "" "" "-" "0000005447" "00000324" "00" "741" "0" "741" "0" "c.741del" "" "p.(Arg248Aspfs*47)" "r.(?)" "" "" "" "" "" "-" "0000005448" "00000320" "00" "1193" "0" "1193" "0" "n.1193G>A" "" "" "" "" "" "" "" "" "-" "0000005448" "00000321" "00" "873" "0" "873" "0" "c.873G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005448" "00000322" "00" "831" "0" "831" "0" "c.831G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005448" "00000323" "00" "783" "0" "783" "0" "c.783G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005448" "00000324" "00" "741" "0" "741" "0" "c.741G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005449" "00000320" "00" "1194" "0" "1195" "0" "n.1194_1195insCCTGG" "" "" "" "" "" "" "" "" "-" "0000005449" "00000321" "00" "874" "0" "875" "0" "c.874_875insCCTGG" "" "p.(Arg292Thrfs*49)" "r.(?)" "" "" "" "" "" "-" "0000005449" "00000322" "00" "832" "0" "833" "0" "c.832_833insCCTGG" "" "p.(Arg278Thrfs*49)" "r.(?)" "" "" "" "" "" "-" "0000005449" "00000323" "00" "784" "0" "785" "0" "c.784_785insCCTGG" "" "p.(Arg262Thrfs*49)" "r.(?)" "" "" "" "" "" "-" "0000005449" "00000324" "00" "742" "0" "743" "0" "c.742_743insCCTGG" "" "p.(Arg248Thrfs*49)" "r.(?)" "" "" "" "" "" "-" "0000023517" "00000320" "00" "185" "0" "185" "0" "n.185del" "" "" "" "" "" "" "" "" "-" "0000023517" "00000321" "00" "-120" "0" "-120" "0" "c.-120del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023517" "00000322" "00" "-120" "0" "-120" "0" "c.-120del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023517" "00000323" "00" "-120" "0" "-120" "0" "c.-120del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023517" "00000324" "00" "-120" "0" "-120" "0" "c.-120del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023518" "00000320" "00" "217" "0" "217" "0" "n.217G>C" "" "" "" "" "" "" "" "" "-" "0000023518" "00000321" "00" "-88" "0" "-88" "0" "c.-88G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023518" "00000322" "00" "-88" "0" "-88" "0" "c.-88G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023518" "00000323" "00" "-88" "0" "-88" "0" "c.-88G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023518" "00000324" "00" "-88" "0" "-88" "0" "c.-88G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023519" "00000320" "00" "373" "0" "373" "0" "n.373C>T" "" "" "" "" "" "" "" "" "-" "0000023519" "00000321" "00" "69" "0" "69" "0" "c.69C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023519" "00000322" "00" "69" "0" "69" "0" "c.69C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023519" "00000323" "00" "69" "0" "69" "0" "c.69C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023519" "00000324" "00" "69" "0" "69" "0" "c.69C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023520" "00000320" "00" "414" "-17" "414" "-17" "n.414-17C>T" "" "" "" "" "" "" "" "" "-" "0000023520" "00000321" "00" "110" "-17" "110" "-17" "c.110-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023520" "00000322" "00" "110" "-17" "110" "-17" "c.110-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023520" "00000323" "00" "110" "-17" "110" "-17" "c.110-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023520" "00000324" "00" "110" "-17" "110" "-17" "c.110-17C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023521" "00000320" "00" "427" "0" "427" "0" "n.427C>T" "" "" "" "" "" "" "" "" "-" "0000023521" "00000321" "00" "123" "0" "123" "0" "c.123C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023521" "00000322" "00" "123" "0" "123" "0" "c.123C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023521" "00000323" "00" "123" "0" "123" "0" "c.123C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023521" "00000324" "00" "123" "0" "123" "0" "c.123C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023522" "00000320" "00" "457" "0" "457" "0" "n.457C>G" "" "" "" "" "" "" "" "" "-" "0000023522" "00000321" "00" "153" "0" "153" "0" "c.153C>G" "" "p.(Tyr51*)" "r.(?)" "" "" "" "" "" "-" "0000023522" "00000322" "00" "153" "0" "153" "0" "c.153C>G" "" "p.(Tyr51*)" "r.(?)" "" "" "" "" "" "-" "0000023522" "00000323" "00" "153" "0" "153" "0" "c.153C>G" "" "p.(Tyr51*)" "r.(?)" "" "" "" "" "" "-" "0000023522" "00000324" "00" "153" "0" "153" "0" "c.153C>G" "" "p.(Tyr51*)" "r.(?)" "" "" "" "" "" "-" "0000023523" "00000320" "00" "512" "0" "512" "0" "n.512C>T" "" "" "" "" "" "" "" "" "-" "0000023523" "00000321" "00" "208" "0" "208" "0" "c.208C>T" "" "p.(Gln70*)" "r.(?)" "" "" "" "" "" "-" "0000023523" "00000322" "00" "208" "0" "208" "0" "c.208C>T" "" "p.(Gln70*)" "r.(?)" "" "" "" "" "" "-" "0000023523" "00000323" "00" "208" "0" "208" "0" "c.208C>T" "" "p.(Gln70*)" "r.(?)" "" "" "" "" "" "-" "0000023523" "00000324" "00" "208" "0" "208" "0" "c.208C>T" "" "p.(Gln70*)" "r.(?)" "" "" "" "" "" "-" "0000023524" "00000320" "00" "531" "0" "531" "0" "n.531C>G" "" "" "" "" "" "" "" "" "-" "0000023524" "00000321" "00" "227" "0" "227" "0" "c.227C>G" "" "p.(Pro76Arg)" "r.(?)" "" "" "" "" "" "-" "0000023524" "00000322" "00" "227" "0" "227" "0" "c.227C>G" "" "p.(Pro76Arg)" "r.(?)" "" "" "" "" "" "-" "0000023524" "00000323" "00" "227" "0" "227" "0" "c.227C>G" "" "p.(Pro76Arg)" "r.(?)" "" "" "" "" "" "-" "0000023524" "00000324" "00" "227" "0" "227" "0" "c.227C>G" "" "p.(Pro76Arg)" "r.(?)" "" "" "" "" "" "-" "0000023525" "00000320" "00" "542" "0" "542" "0" "n.542G>A" "" "" "" "" "" "" "" "" "-" "0000023525" "00000321" "00" "238" "0" "238" "0" "c.238G>A" "" "p.(Gly80Arg)" "r.(?)" "" "" "" "" "" "-" "0000023525" "00000322" "00" "238" "0" "238" "0" "c.238G>A" "" "p.(Gly80Arg)" "r.(?)" "" "" "" "" "" "-" "0000023525" "00000323" "00" "238" "0" "238" "0" "c.238G>A" "" "p.(Gly80Arg)" "r.(?)" "" "" "" "" "" "-" "0000023525" "00000324" "00" "238" "0" "238" "0" "c.238G>A" "" "p.(Gly80Arg)" "r.(?)" "" "" "" "" "" "-" "0000023526" "00000320" "00" "584" "0" "584" "0" "n.584C>A" "" "" "" "" "" "" "" "" "-" "0000023526" "00000321" "00" "280" "0" "280" "0" "c.280C>A" "" "p.(Arg94Ser)" "r.(?)" "" "" "" "" "" "-" "0000023526" "00000322" "00" "280" "0" "280" "0" "c.280C>A" "" "p.(Arg94Ser)" "r.(?)" "" "" "" "" "" "-" "0000023526" "00000323" "00" "280" "0" "280" "0" "c.280C>A" "" "p.(Arg94Ser)" "r.(?)" "" "" "" "" "" "-" "0000023526" "00000324" "00" "280" "0" "280" "0" "c.280C>A" "" "p.(Arg94Ser)" "r.(?)" "" "" "" "" "" "-" "0000023527" "00000320" "00" "585" "0" "585" "0" "n.585G>T" "" "" "" "" "" "" "" "" "-" "0000023527" "00000321" "00" "281" "0" "281" "0" "c.281G>T" "" "p.(Arg94Leu)" "r.(?)" "" "" "" "" "" "-" "0000023527" "00000322" "00" "281" "0" "281" "0" "c.281G>T" "" "p.(Arg94Leu)" "r.(?)" "" "" "" "" "" "-" "0000023527" "00000323" "00" "281" "0" "281" "0" "c.281G>T" "" "p.(Arg94Leu)" "r.(?)" "" "" "" "" "" "-" "0000023527" "00000324" "00" "281" "0" "281" "0" "c.281G>T" "" "p.(Arg94Leu)" "r.(?)" "" "" "" "" "" "-" "0000023528" "00000320" "00" "717" "0" "717" "0" "n.717T>C" "" "" "" "" "" "" "" "" "-" "0000023528" "00000321" "00" "307" "0" "307" "0" "c.307T>C" "" "p.(Cys103Arg)" "r.(?)" "" "" "" "" "" "-" "0000023528" "00000322" "00" "307" "0" "307" "0" "c.307T>C" "" "p.(Cys103Arg)" "r.(?)" "" "" "" "" "" "-" "0000023528" "00000323" "00" "307" "0" "307" "0" "c.307T>C" "" "p.(Cys103Arg)" "r.(?)" "" "" "" "" "" "-" "0000023528" "00000324" "00" "307" "0" "307" "0" "c.307T>C" "" "p.(Cys103Arg)" "r.(?)" "" "" "" "" "" "-" "0000023529" "00000320" "00" "720" "0" "720" "0" "n.720T>C" "" "" "" "" "" "" "" "" "-" "0000023529" "00000321" "00" "310" "0" "310" "0" "c.310T>C" "" "p.(Phe104Leu)" "r.(?)" "" "" "" "" "" "-" "0000023529" "00000322" "00" "310" "0" "310" "0" "c.310T>C" "" "p.(Phe104Leu)" "r.(?)" "" "" "" "" "" "-" "0000023529" "00000323" "00" "310" "0" "310" "0" "c.310T>C" "" "p.(Phe104Leu)" "r.(?)" "" "" "" "" "" "-" "0000023529" "00000324" "00" "310" "0" "310" "0" "c.310T>C" "" "p.(Phe104Leu)" "r.(?)" "" "" "" "" "" "-" "0000023530" "00000320" "00" "738" "0" "738" "0" "n.738T>C" "" "" "" "" "" "" "" "" "-" "0000023530" "00000321" "00" "328" "0" "328" "0" "c.328T>C" "" "p.(Ser110Pro)" "r.(?)" "" "" "" "" "" "-" "0000023530" "00000322" "00" "328" "0" "328" "0" "c.328T>C" "" "p.(Ser110Pro)" "r.(?)" "" "" "" "" "" "-" "0000023530" "00000323" "00" "328" "0" "328" "0" "c.328T>C" "" "p.(Ser110Pro)" "r.(?)" "" "" "" "" "" "-" "0000023530" "00000324" "00" "328" "0" "328" "0" "c.328T>C" "" "p.(Ser110Pro)" "r.(?)" "" "" "" "" "" "-" "0000023531" "00000320" "00" "757" "0" "757" "0" "n.757G>A" "" "" "" "" "" "" "" "" "-" "0000023531" "00000321" "00" "347" "0" "347" "0" "c.347G>A" "" "p.(Gly116Asp)" "r.(?)" "" "" "" "" "" "-" "0000023531" "00000322" "00" "347" "0" "347" "0" "c.347G>A" "" "p.(Gly116Asp)" "r.(?)" "" "" "" "" "" "-" "0000023531" "00000323" "00" "347" "0" "347" "0" "c.347G>A" "" "p.(Gly116Asp)" "r.(?)" "" "" "" "" "" "-" "0000023531" "00000324" "00" "347" "0" "347" "0" "c.347G>A" "" "p.(Gly116Asp)" "r.(?)" "" "" "" "" "" "-" "0000023532" "00000320" "00" "762" "0" "762" "0" "n.762T>C" "" "" "" "" "" "" "" "" "-" "0000023532" "00000321" "00" "352" "0" "352" "0" "c.352T>C" "" "p.(Cys118Arg)" "r.(?)" "" "" "" "" "" "-" "0000023532" "00000322" "00" "352" "0" "352" "0" "c.352T>C" "" "p.(Cys118Arg)" "r.(?)" "" "" "" "" "" "-" "0000023532" "00000323" "00" "352" "0" "352" "0" "c.352T>C" "" "p.(Cys118Arg)" "r.(?)" "" "" "" "" "" "-" "0000023532" "00000324" "00" "352" "0" "352" "0" "c.352T>C" "" "p.(Cys118Arg)" "r.(?)" "" "" "" "" "" "-" "0000023533" "00000320" "00" "780" "546" "780" "546" "n.780+546T>C" "" "" "" "" "" "" "" "" "-" "0000023533" "00000321" "00" "383" "0" "383" "0" "c.383T>C" "" "p.(Phe128Ser)" "r.(?)" "" "" "" "" "" "-" "0000023533" "00000322" "00" "383" "0" "383" "0" "c.383T>C" "" "p.(Phe128Ser)" "r.(?)" "" "" "" "" "" "-" "0000023533" "00000323" "00" "370" "546" "370" "546" "c.370+546T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023533" "00000324" "00" "370" "546" "370" "546" "c.370+546T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023534" "00000320" "00" "780" "624" "780" "624" "n.780+624G>A" "" "" "" "" "" "" "" "" "-" "0000023534" "00000321" "00" "460" "1" "460" "1" "c.460+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023534" "00000322" "00" "460" "1" "460" "1" "c.460+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023534" "00000323" "00" "370" "624" "370" "624" "c.370+624G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023534" "00000324" "00" "370" "624" "370" "624" "c.370+624G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023535" "00000320" "00" "824" "0" "824" "0" "n.824G>A" "" "" "" "" "" "" "" "" "-" "0000023535" "00000321" "00" "504" "0" "504" "0" "c.504G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023535" "00000322" "00" "504" "0" "504" "0" "c.504G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023535" "00000323" "00" "414" "0" "414" "0" "c.414G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023535" "00000324" "00" "414" "0" "414" "0" "c.414G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023536" "00000320" "00" "855" "0" "855" "0" "n.855C>G" "" "" "" "" "" "" "" "" "-" "0000023536" "00000321" "00" "535" "0" "535" "0" "c.535C>G" "" "p.(Pro179Ala)" "r.(?)" "" "" "" "" "" "-" "0000023536" "00000322" "00" "535" "0" "535" "0" "c.535C>G" "" "p.(Pro179Ala)" "r.(?)" "" "" "" "" "" "-" "0000023536" "00000323" "00" "445" "0" "445" "0" "c.445C>G" "" "p.(Pro149Ala)" "r.(?)" "" "" "" "" "" "-" "0000023536" "00000324" "00" "445" "0" "445" "0" "c.445C>G" "" "p.(Pro149Ala)" "r.(?)" "" "" "" "" "" "-" "0000023537" "00000320" "00" "862" "-20" "862" "-20" "n.862-20C>T" "" "" "" "" "" "" "" "" "-" "0000023537" "00000321" "00" "542" "-20" "542" "-20" "c.542-20C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023537" "00000322" "00" "541" "62" "541" "62" "c.541+62C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023537" "00000323" "00" "452" "-20" "452" "-20" "c.452-20C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023537" "00000324" "00" "451" "62" "451" "62" "c.451+62C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023538" "00000320" "00" "862" "-3" "862" "-3" "n.862-3C>G" "" "" "" "" "" "" "" "" "-" "0000023538" "00000321" "00" "542" "-3" "542" "-3" "c.542-3C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023538" "00000322" "00" "541" "79" "541" "79" "c.541+79C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023538" "00000323" "00" "452" "-3" "452" "-3" "c.452-3C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023538" "00000324" "00" "451" "79" "451" "79" "c.451+79C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023539" "00000320" "00" "863" "0" "863" "0" "n.863G>A" "" "" "" "" "" "" "" "" "-" "0000023539" "00000321" "00" "543" "0" "543" "0" "c.543G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023539" "00000322" "00" "541" "83" "541" "83" "c.541+83G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023539" "00000323" "00" "453" "0" "453" "0" "c.453G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023539" "00000324" "00" "451" "83" "451" "83" "c.451+83G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023540" "00000320" "00" "903" "0" "903" "0" "n.903G>A" "" "" "" "" "" "" "" "" "-" "0000023540" "00000321" "00" "583" "0" "583" "0" "c.583G>A" "" "p.(Gly195Arg)" "r.(?)" "" "" "" "" "" "-" "0000023540" "00000322" "00" "541" "123" "541" "123" "c.541+123G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023540" "00000323" "00" "493" "0" "493" "0" "c.493G>A" "" "p.(Gly165Arg)" "r.(?)" "" "" "" "" "" "-" "0000023540" "00000324" "00" "451" "123" "451" "123" "c.451+123G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023541" "00000320" "00" "904" "-7" "904" "-7" "n.904-7del" "" "" "" "" "" "" "" "" "-" "0000023541" "00000321" "00" "584" "-7" "584" "-7" "c.584-7del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023541" "00000322" "00" "542" "-7" "542" "-7" "c.542-7del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023541" "00000323" "00" "494" "-7" "494" "-7" "c.494-7del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023541" "00000324" "00" "452" "-7" "452" "-7" "c.452-7del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023542" "00000320" "00" "909" "0" "909" "0" "n.909G>A" "" "" "" "" "" "" "" "" "-" "0000023542" "00000321" "00" "589" "0" "589" "0" "c.589G>A" "" "p.(Gly197Arg)" "r.(?)" "" "" "" "" "" "-" "0000023542" "00000322" "00" "547" "0" "547" "0" "c.547G>A" "" "p.(Gly183Arg)" "r.(?)" "" "" "" "" "" "-" "0000023542" "00000323" "00" "499" "0" "499" "0" "c.499G>A" "" "p.(Gly167Arg)" "r.(?)" "" "" "" "" "" "-" "0000023542" "00000324" "00" "457" "0" "457" "0" "c.457G>A" "" "p.(Gly153Arg)" "r.(?)" "" "" "" "" "" "-" "0000023543" "00000320" "00" "910" "0" "910" "0" "n.910G>A" "" "" "" "" "" "" "" "" "-" "0000023543" "00000321" "00" "590" "0" "590" "0" "c.590G>A" "" "p.(Gly197Glu)" "r.(?)" "" "" "" "" "" "-" "0000023543" "00000322" "00" "548" "0" "548" "0" "c.548G>A" "" "p.(Gly183Glu)" "r.(?)" "" "" "" "" "" "-" "0000023543" "00000323" "00" "500" "0" "500" "0" "c.500G>A" "" "p.(Gly167Glu)" "r.(?)" "" "" "" "" "" "-" "0000023543" "00000324" "00" "458" "0" "458" "0" "c.458G>A" "" "p.(Gly153Glu)" "r.(?)" "" "" "" "" "" "-" "0000023544" "00000320" "00" "914" "0" "914" "0" "n.914C>T" "" "" "" "" "" "" "" "" "-" "0000023544" "00000321" "00" "594" "0" "594" "0" "c.594C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023544" "00000322" "00" "552" "0" "552" "0" "c.552C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023544" "00000323" "00" "504" "0" "504" "0" "c.504C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023544" "00000324" "00" "462" "0" "462" "0" "c.462C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023545" "00000320" "00" "948" "0" "948" "0" "n.948C>T" "" "" "" "" "" "" "" "" "-" "0000023545" "00000321" "00" "628" "0" "628" "0" "c.628C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023545" "00000322" "00" "586" "0" "586" "0" "c.586C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023545" "00000323" "00" "538" "0" "538" "0" "c.538C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023545" "00000324" "00" "496" "0" "496" "0" "c.496C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023546" "00000320" "00" "967" "-1" "967" "-1" "n.967-1G>C" "" "" "" "" "" "" "" "" "-" "0000023546" "00000321" "00" "647" "-1" "647" "-1" "c.647-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023546" "00000322" "00" "605" "-1" "605" "-1" "c.605-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023546" "00000323" "00" "557" "-1" "557" "-1" "c.557-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023546" "00000324" "00" "515" "-1" "515" "-1" "c.515-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023547" "00000320" "00" "967" "0" "967" "0" "n.967G>T" "" "" "" "" "" "" "" "" "-" "0000023547" "00000321" "00" "647" "0" "647" "0" "c.647G>T" "" "p.(Gly216Val)" "r.(?)" "" "" "" "" "" "-" "0000023547" "00000322" "00" "605" "0" "605" "0" "c.605G>T" "" "p.(Gly202Val)" "r.(?)" "" "" "" "" "" "-" "0000023547" "00000323" "00" "557" "0" "557" "0" "c.557G>T" "" "p.(Gly186Val)" "r.(?)" "" "" "" "" "" "-" "0000023547" "00000324" "00" "515" "0" "515" "0" "c.515G>T" "" "p.(Gly172Val)" "r.(?)" "" "" "" "" "" "-" "0000023548" "00000320" "00" "977" "0" "977" "0" "n.977C>T" "" "" "" "" "" "" "" "" "-" "0000023548" "00000321" "00" "657" "0" "657" "0" "c.657C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023548" "00000322" "00" "615" "0" "615" "0" "c.615C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023548" "00000323" "00" "567" "0" "567" "0" "c.567C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023548" "00000324" "00" "525" "0" "525" "0" "c.525C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023549" "00000320" "00" "980" "0" "980" "0" "n.980C>T" "" "" "" "" "" "" "" "" "-" "0000023549" "00000321" "00" "660" "0" "660" "0" "c.660C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023549" "00000322" "00" "618" "0" "618" "0" "c.618C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023549" "00000323" "00" "570" "0" "570" "0" "c.570C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023549" "00000324" "00" "528" "0" "528" "0" "c.528C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023550" "00000320" "00" "995" "0" "995" "0" "n.995G>A" "" "" "" "" "" "" "" "" "-" "0000023550" "00000321" "00" "675" "0" "675" "0" "c.675G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023550" "00000322" "00" "633" "0" "633" "0" "c.633G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023550" "00000323" "00" "585" "0" "585" "0" "c.585G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023550" "00000324" "00" "543" "0" "543" "0" "c.543G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023551" "00000320" "00" "1020" "-1" "1020" "-1" "n.1020-1G>A" "" "" "" "" "" "" "" "" "-" "0000023551" "00000321" "00" "700" "-1" "700" "-1" "c.700-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023551" "00000322" "00" "658" "-1" "658" "-1" "c.658-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023551" "00000323" "00" "610" "-1" "610" "-1" "c.610-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023551" "00000324" "00" "568" "-1" "568" "-1" "c.568-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023552" "00000320" "00" "1028" "0" "1029" "0" "n.1028_1029del" "" "" "" "" "" "" "" "" "-" "0000023552" "00000321" "00" "708" "0" "709" "0" "c.708_709del" "" "p.(Val237Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000023552" "00000322" "00" "666" "0" "667" "0" "c.666_667del" "" "p.(Val223Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000023552" "00000323" "00" "618" "0" "619" "0" "c.618_619del" "" "p.(Val207Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000023552" "00000324" "00" "576" "0" "577" "0" "c.576_577del" "" "p.(Val193Alafs*73)" "r.(?)" "" "" "" "" "" "-" "0000023553" "00000320" "00" "1038" "0" "1038" "0" "n.1038G>A" "" "" "" "" "" "" "" "" "-" "0000023553" "00000321" "00" "718" "0" "718" "0" "c.718G>A" "" "p.(Gly240Arg)" "r.(?)" "" "" "" "" "" "-" "0000023553" "00000322" "00" "676" "0" "676" "0" "c.676G>A" "" "p.(Gly226Arg)" "r.(?)" "" "" "" "" "" "-" "0000023553" "00000323" "00" "628" "0" "628" "0" "c.628G>A" "" "p.(Gly210Arg)" "r.(?)" "" "" "" "" "" "-" "0000023553" "00000324" "00" "586" "0" "586" "0" "c.586G>A" "" "p.(Gly196Arg)" "r.(?)" "" "" "" "" "" "-" "0000023554" "00000320" "00" "1038" "0" "1038" "0" "n.1038G>C" "" "" "" "" "" "" "" "" "-" "0000023554" "00000321" "00" "718" "0" "718" "0" "c.718G>C" "" "p.(Gly240Arg)" "r.(?)" "" "" "" "" "" "-" "0000023554" "00000322" "00" "676" "0" "676" "0" "c.676G>C" "" "p.(Gly226Arg)" "r.(?)" "" "" "" "" "" "-" "0000023554" "00000323" "00" "628" "0" "628" "0" "c.628G>C" "" "p.(Gly210Arg)" "r.(?)" "" "" "" "" "" "-" "0000023554" "00000324" "00" "586" "0" "586" "0" "c.586G>C" "" "p.(Gly196Arg)" "r.(?)" "" "" "" "" "" "-" "0000023555" "00000320" "00" "1067" "0" "1067" "0" "n.1067C>T" "" "" "" "" "" "" "" "" "-" "0000023555" "00000321" "00" "747" "0" "747" "0" "c.747C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023555" "00000322" "00" "705" "0" "705" "0" "c.705C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023555" "00000323" "00" "657" "0" "657" "0" "c.657C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023555" "00000324" "00" "615" "0" "615" "0" "c.615C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023556" "00000320" "00" "1070" "0" "1079" "0" "n.1070_1079del" "" "" "" "" "" "" "" "" "-" "0000023556" "00000321" "00" "750" "0" "759" "0" "c.750_759del" "" "p.(Leu252Argfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023556" "00000322" "00" "708" "0" "717" "0" "c.708_717del" "" "p.(Leu238Argfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023556" "00000323" "00" "660" "0" "669" "0" "c.660_669del" "" "p.(Leu222Argfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023556" "00000324" "00" "618" "0" "627" "0" "c.618_627del" "" "p.(Leu208Argfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023557" "00000320" "00" "1071" "0" "1071" "0" "n.1071C>T" "" "" "" "" "" "" "" "" "-" "0000023557" "00000321" "00" "751" "0" "751" "0" "c.751C>T" "" "p.(Arg251Trp)" "r.(?)" "" "" "" "" "" "-" "0000023557" "00000322" "00" "709" "0" "709" "0" "c.709C>T" "" "p.(Arg237Trp)" "r.(?)" "" "" "" "" "" "-" "0000023557" "00000323" "00" "661" "0" "661" "0" "c.661C>T" "" "p.(Arg221Trp)" "r.(?)" "" "" "" "" "" "-" "0000023557" "00000324" "00" "619" "0" "619" "0" "c.619C>T" "" "p.(Arg207Trp)" "r.(?)" "" "" "" "" "" "-" "0000023558" "00000320" "00" "1088" "0" "1088" "0" "n.1088C>G" "" "" "" "" "" "" "" "" "-" "0000023558" "00000321" "00" "768" "0" "768" "0" "c.768C>G" "" "p.(Asn256Lys)" "r.(?)" "" "" "" "" "" "-" "0000023558" "00000322" "00" "726" "0" "726" "0" "c.726C>G" "" "p.(Asn242Lys)" "r.(?)" "" "" "" "" "" "-" "0000023558" "00000323" "00" "678" "0" "678" "0" "c.678C>G" "" "p.(Asn226Lys)" "r.(?)" "" "" "" "" "" "-" "0000023558" "00000324" "00" "636" "0" "636" "0" "c.636C>G" "" "p.(Asn212Lys)" "r.(?)" "" "" "" "" "" "-" "0000023559" "00000320" "00" "1094" "0" "1094" "0" "n.1094G>A" "" "" "" "" "" "" "" "" "-" "0000023559" "00000321" "00" "774" "0" "774" "0" "c.774G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023559" "00000322" "00" "732" "0" "732" "0" "c.732G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023559" "00000323" "00" "684" "0" "684" "0" "c.684G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023559" "00000324" "00" "642" "0" "642" "0" "c.642G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023560" "00000320" "00" "1110" "0" "1110" "0" "n.1110A>G" "" "" "" "" "" "" "" "" "-" "0000023560" "00000321" "00" "790" "0" "790" "0" "c.790A>G" "" "p.(Lys264Glu)" "r.(?)" "" "" "" "" "" "-" "0000023560" "00000322" "00" "748" "0" "748" "0" "c.748A>G" "" "p.(Lys250Glu)" "r.(?)" "" "" "" "" "" "-" "0000023560" "00000323" "00" "700" "0" "700" "0" "c.700A>G" "" "p.(Lys234Glu)" "r.(?)" "" "" "" "" "" "-" "0000023560" "00000324" "00" "658" "0" "658" "0" "c.658A>G" "" "p.(Lys220Glu)" "r.(?)" "" "" "" "" "" "-" "0000023561" "00000320" "00" "1121" "0" "1121" "0" "n.1121G>A" "" "" "" "" "" "" "" "" "-" "0000023561" "00000321" "00" "801" "0" "801" "0" "c.801G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023561" "00000322" "00" "759" "0" "759" "0" "c.759G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023561" "00000323" "00" "711" "0" "711" "0" "c.711G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023561" "00000324" "00" "669" "0" "669" "0" "c.669G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023562" "00000320" "00" "1143" "0" "1143" "0" "n.1143C>T" "" "" "" "" "" "" "" "" "-" "0000023562" "00000321" "00" "823" "0" "823" "0" "c.823C>T" "" "p.(Gln275*)" "r.(?)" "" "" "" "" "" "-" "0000023562" "00000322" "00" "781" "0" "781" "0" "c.781C>T" "" "p.(Gln261*)" "r.(?)" "" "" "" "" "" "-" "0000023562" "00000323" "00" "733" "0" "733" "0" "c.733C>T" "" "p.(Gln245*)" "r.(?)" "" "" "" "" "" "-" "0000023562" "00000324" "00" "691" "0" "691" "0" "c.691C>T" "" "p.(Gln231*)" "r.(?)" "" "" "" "" "" "-" "0000023563" "00000320" "00" "1156" "0" "1156" "0" "n.1156del" "" "" "" "" "" "" "" "" "-" "0000023563" "00000321" "00" "836" "0" "836" "0" "c.836del" "" "p.(Thr279Ilefs*60)" "r.(?)" "" "" "" "" "" "-" "0000023563" "00000322" "00" "794" "0" "794" "0" "c.794del" "" "p.(Thr265Ilefs*60)" "r.(?)" "" "" "" "" "" "-" "0000023563" "00000323" "00" "746" "0" "746" "0" "c.746del" "" "p.(Thr249Ilefs*60)" "r.(?)" "" "" "" "" "" "-" "0000023563" "00000324" "00" "704" "0" "704" "0" "c.704del" "" "p.(Thr235Ilefs*60)" "r.(?)" "" "" "" "" "" "-" "0000023564" "00000320" "00" "1193" "0" "1193" "0" "n.1193G>A" "" "" "" "" "" "" "" "" "-" "0000023564" "00000321" "00" "873" "0" "873" "0" "c.873G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023564" "00000322" "00" "831" "0" "831" "0" "c.831G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023564" "00000323" "00" "783" "0" "783" "0" "c.783G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023564" "00000324" "00" "741" "0" "741" "0" "c.741G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023565" "00000320" "00" "1586" "0" "1586" "0" "n.1586C>T" "" "" "" "" "" "" "" "" "-" "0000023565" "00000321" "00" "1266" "0" "1266" "0" "c.*387C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023565" "00000322" "00" "1224" "0" "1224" "0" "c.*387C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023565" "00000323" "00" "1176" "0" "1176" "0" "c.*387C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023565" "00000324" "00" "1134" "0" "1134" "0" "c.*387C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023566" "00000320" "00" "1595" "0" "1595" "0" "n.1595C>T" "" "" "" "" "" "" "" "" "-" "0000023566" "00000321" "00" "1275" "0" "1275" "0" "c.*396C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023566" "00000322" "00" "1233" "0" "1233" "0" "c.*396C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023566" "00000323" "00" "1185" "0" "1185" "0" "c.*396C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023566" "00000324" "00" "1143" "0" "1143" "0" "c.*396C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023567" "00000320" "00" "1669" "0" "1669" "0" "n.1669G>C" "" "" "" "" "" "" "" "" "-" "0000023567" "00000321" "00" "1349" "0" "1349" "0" "c.*470G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023567" "00000322" "00" "1307" "0" "1307" "0" "c.*470G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023567" "00000323" "00" "1259" "0" "1259" "0" "c.*470G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023567" "00000324" "00" "1217" "0" "1217" "0" "c.*470G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023568" "00000320" "00" "1759" "0" "1759" "0" "n.1759G>A" "" "" "" "" "" "" "" "" "-" "0000023568" "00000321" "00" "1439" "0" "1439" "0" "c.*560G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023568" "00000322" "00" "1397" "0" "1397" "0" "c.*560G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023568" "00000323" "00" "1349" "0" "1349" "0" "c.*560G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023568" "00000324" "00" "1307" "0" "1307" "0" "c.*560G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026881" "00000320" "00" "709" "0" "709" "0" "n.709C>T" "" "" "" "" "" "" "" "" "-" "0000026881" "00000321" "00" "299" "0" "299" "0" "c.299C>T" "" "p.(Ala100Val)" "r.(?)" "" "" "" "" "" "-" "0000026881" "00000322" "00" "299" "0" "299" "0" "c.299C>T" "" "p.(Ala100Val)" "r.(?)" "" "" "" "" "" "-" "0000026881" "00000323" "00" "299" "0" "299" "0" "c.299C>T" "" "p.(Ala100Val)" "r.(?)" "" "" "" "" "" "-" "0000026881" "00000324" "00" "299" "0" "299" "0" "c.299C>T" "" "p.(Ala100Val)" "r.(?)" "" "" "" "" "" "-" "0000026882" "00000320" "00" "741" "0" "741" "0" "n.741C>T" "" "" "" "" "" "" "" "" "-" "0000026882" "00000321" "00" "331" "0" "331" "0" "c.331C>T" "" "p.(His111Tyr)" "r.(?)" "" "" "" "" "" "-" "0000026882" "00000322" "00" "331" "0" "331" "0" "c.331C>T" "" "p.(His111Tyr)" "r.(?)" "" "" "" "" "" "-" "0000026882" "00000323" "00" "331" "0" "331" "0" "c.331C>T" "" "p.(His111Tyr)" "r.(?)" "" "" "" "" "" "-" "0000026882" "00000324" "00" "331" "0" "331" "0" "c.331C>T" "" "p.(His111Tyr)" "r.(?)" "" "" "" "" "" "-" "0000026883" "00000320" "00" "777" "0" "777" "0" "n.777C>T" "" "" "" "" "" "" "" "" "-" "0000026883" "00000321" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Arg123*)" "r.(?)" "" "" "" "" "" "-" "0000026883" "00000322" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Arg123*)" "r.(?)" "" "" "" "" "" "-" "0000026883" "00000323" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Arg123*)" "r.(?)" "" "" "" "" "" "-" "0000026883" "00000324" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Arg123*)" "r.(?)" "" "" "" "" "" "-" "0000026884" "00000320" "00" "926" "0" "926" "0" "n.926G>C" "" "" "" "" "" "" "" "" "-" "0000026884" "00000321" "00" "606" "0" "606" "0" "c.606G>C" "" "p.(Glu202Asp)" "r.(?)" "" "" "" "" "" "-" "0000026884" "00000322" "00" "564" "0" "564" "0" "c.564G>C" "" "p.(Glu188Asp)" "r.(?)" "" "" "" "" "" "-" "0000026884" "00000323" "00" "516" "0" "516" "0" "c.516G>C" "" "p.(Glu172Asp)" "r.(?)" "" "" "" "" "" "-" "0000026884" "00000324" "00" "474" "0" "474" "0" "c.474G>C" "" "p.(Glu158Asp)" "r.(?)" "" "" "" "" "" "-" "0000026885" "00000320" "00" "1078" "0" "1078" "0" "n.1078G>A" "" "" "" "" "" "" "" "" "-" "0000026885" "00000321" "00" "758" "0" "758" "0" "c.758G>A" "" "p.(Arg253Gln)" "r.(?)" "" "" "" "" "" "-" "0000026885" "00000322" "00" "716" "0" "716" "0" "c.716G>A" "" "p.(Arg239Gln)" "r.(?)" "" "" "" "" "" "-" "0000026885" "00000323" "00" "668" "0" "668" "0" "c.668G>A" "" "p.(Arg223Gln)" "r.(?)" "" "" "" "" "" "-" "0000026885" "00000324" "00" "626" "0" "626" "0" "c.626G>A" "" "p.(Arg209Gln)" "r.(?)" "" "" "" "" "" "-" "0000026886" "00000320" "00" "1097" "6" "1097" "6" "n.1097+6T>C" "" "" "" "" "" "" "" "" "-" "0000026886" "00000321" "00" "777" "6" "777" "6" "c.777+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026886" "00000322" "00" "735" "6" "735" "6" "c.735+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026886" "00000323" "00" "687" "6" "687" "6" "c.687+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026886" "00000324" "00" "645" "6" "645" "6" "c.645+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0