### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CPS1) # 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}}" "CPS1" "carbamoyl-phosphate synthase 1, mitochondrial" "2" "p" "unknown" "NC_000002.11" "UD_132118825123" "" "" "" "1" "1" "2323" "1373" "608307" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "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 = 3 "{{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}}" "00000657" "CPS1" "transcript variant 1" "001" "NM_001122633.2" "" "NP_001116105.1" "" "" "" "-82" "5643" "4521" "211342406" "211543831" "00001" "2013-11-12 21:35:42" "" "" "" "2" "00000658" "CPS1" "transcript variant 2" "002" "NM_001875.4" "" "NP_001866.2" "" "" "" "-135" "5625" "4503" "211421323" "211543831" "00001" "2013-11-12 21:35:42" "" "" "" "2" "00000659" "CPS1" "transcript variant 3" "003" "NM_001122634.2" "" "NP_001116106.1" "" "" "" "-509" "4272" "3150" "211458079" "211543831" "00001" "2013-11-12 21:35:42" "" "" "" "2" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00085" "237300" "Carbamoylphosphate synthetase I deficiency;CPS I DEFICIENCY" "237300" "" "" "" "00001" "2013-11-16 01:00:00" "00001" "2014-08-13 15:00:21" "" "00125" "PHN" "{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)" "615371" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CPS1" "00085" "CPS1" "00125" ## 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 = 210 "{{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}}" "0000000856" "0" "99" "2" "211438025" "211438025" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 03:12:29" "CPS1_000007" "g.211438025C>T" "" "{PMID:17310273:17310273}" "" "rs121912593" "subst" "0" "; clinVar; Ensembl;" "4.720" "" "" "" "" "MSCV_0000856" "" "0000000857" "0" "99" "2" "211456617" "211456617" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:53:53" "CPS1_000001" "g.211456617A>G" "" "{PMID:11474210:11474210}" "" "rs28940283" "subst" "0" "; clinVar; Ensembl;" "5.770" "" "" "" "" "MSCV_0000857" "" "0000000858" "0" "99" "2" "211465360" "211465360" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 03:12:29" "CPS1_000002" "g.211465360C>T" "" "{PMID:9711878:9711878}" "" "rs121912592" "subst" "0" "; clinVar; Ensembl;" "5.090" "" "" "" "" "MSCV_0000858" "" "0000000859" "0" "99" "2" "211473251" "211473251" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:53:55" "CPS1_000003" "g.211473251C>T" "" "{PMID:17310273:17310273}" "" "rs121912596" "subst" "0" "; clinVar; Ensembl;" "1.280" "" "" "" "" "MSCV_0000859" "" "0000000860" "0" "99" "2" "211504769" "211504769" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-12 02:14:44" "CPS1_000004" "g.211504769G>A" "" "{PMID:17310273:17310273}" "" "rs121912595" "subst" "0" "; clinVar; Ensembl;" "5.420" "" "" "" "" "MSCV_0000860" "" "0000000861" "0" "99" "2" "211504769" "211504769" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-11 23:37:15" "CPS1_000005" "g.211504769G>T" "" "{PMID:17310273:17310273}" "" "rs121912595" "subst" "0" "; clinVar; Ensembl;" "5.420" "" "" "" "" "MSCV_0000861" "" "0000000862" "0" "77" "2" "211540486" "211540486" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 16:13:47" "CPS1_000006" "g.211540486A>C" "" "{PMID:14718356:14718356};{PMID:21767969:21767969};{PMID:15465784:15465784};{PMID:16708072:16708072};{PMID:20154341:20154341};{PMID:11407344:11407344}" "" "rs121912594" "subst" "0" "; clinVar; Ensembl;" "6.080" "" "" "" "" "MSCV_0000862" "" "0000002849" "0" "55" "2" "211469907" "211469907" "subst" "35" "0.000615101" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-03-05 04:28:07" "CPS1_000008" "g.211469907G>T" "" "" "" "rs142693704" "subst" "0" ";" "3.640" "" "" "" "" "MSCV_0002849" "" "0000002851" "0" "55" "2" "211481201" "211481201" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2024-04-12 01:04:19" "CPS1_000009" "g.211481201A>G" "" "" "" "rs147062907" "subst" "0" ";" "5.520" "" "" "" "" "MSCV_0002851" "" "0000002854" "0" "55" "2" "211521333" "211521333" "subst" "35" "0.000999539" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:48:54" "CPS1_000010" "g.211521333A>G" "" "" "" "rs141373204" "subst" "0" ";" "4.940" "" "" "" "" "MSCV_0002854" "" "0000002856" "0" "11" "2" "211540507" "211540507" "subst" "35" "0.329156" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:48:56" "CPS1_000011" "g.211540507C>A" "" "" "" "rs1047891" "subst" "0" ";" "5.200" "" "" "" "" "MSCV_0002856" "" "0000005209" "0" "11" "2" "211540507" "211540507" "subst" "35" "0.329156" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:08:49" "CPS1_000011" "g.211540507C>A" "" "" "" "rs1047891" "subst" "0" "; ensembl;" "5.200" "" "" "" "" "MSCV_0005209" "" "0000019486" "0" "11" "2" "211342502" "211342502" "subst" "35" "0.427573" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-11 17:40:51" "CPS1_000103" "g.211342502G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019486" "" "0000019487" "0" "55" "2" "211421330" "211421330" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:10:31" "CPS1_000085" "g.211421330G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019487" "" "0000019488" "0" "55" "2" "211421382" "211421382" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:10:35" "CPS1_000086" "g.211421382A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019488" "" "0000019489" "0" "77" "2" "211421429" "211421429" "subst" "35" "0.00715385" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-28 19:39:43" "CPS1_000087" "g.211421429T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019489" "" "0000019490" "0" "00" "2" "211421452" "211421453" "ins" "35" "0.461489" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-14 02:24:42" "CPS1_000088" "g.211421452_211421453insTCT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019490" "" "0000019491" "0" "55" "2" "211421462" "211421462" "subst" "51" "0.000307645" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-13 21:32:22" "CPS1_000089" "g.211421462C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019491" "" "0000019492" "0" "99" "2" "211438025" "211438025" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:12:29" "CPS1_000007" "g.211438025C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000856" "" "0000019493" "0" "55" "2" "211438081" "211438081" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:10:48" "CPS1_000090" "g.211438081C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019493" "" "0000019494" "0" "77" "2" "211438090" "211438090" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-17 09:34:42" "CPS1_000091" "g.211438090C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019494" "" "0000019495" "0" "77" "2" "211438103" "211438104" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:12:29" "CPS1_000092" "g.211438103_211438104insAAGTGGTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019495" "" "0000019496" "0" "55" "2" "211438136" "211438136" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-26 23:24:54" "CPS1_000093" "g.211438136G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019496" "" "0000019497" "0" "55" "2" "211441128" "211441128" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-06 09:23:40" "CPS1_000094" "g.211441128C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019497" "" "0000019498" "0" "00" "2" "211441135" "211441136" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:11:01" "CPS1_000095" "g.211441135_211441136insTGGGAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019498" "" "0000019499" "0" "77" "2" "211442212" "211442212" "subst" "35" "0.00876519" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:11:04" "CPS1_000096" "g.211442212G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019499" "" "0000019500" "0" "77" "2" "211444452" "211444452" "subst" "51" "0.00330617" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:12:29" "CPS1_000097" "g.211444452T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019500" "" "0000019501" "0" "99" "2" "211444453" "211444453" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:11:09" "CPS1_000098" "g.211444453G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019501" "" "0000019502" "0" "77" "2" "211444503" "211444503" "subst" "51" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:12:29" "CPS1_000099" "g.211444503A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019502" "" "0000019503" "0" "33" "2" "211447337" "211447337" "subst" "35" "0.00269107" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-30 02:35:12" "CPS1_000100" "g.211447337A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019503" "" "0000019504" "0" "55" "2" "211452797" "211452797" "subst" "35" "0.000461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-26 23:25:32" "CPS1_000101" "g.211452797G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019504" "" "0000019505" "0" "55" "2" "211452857" "211452857" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-17 20:30:30" "CPS1_000102" "g.211452857C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019505" "" "0000019506" "0" "77" "2" "211454901" "211454901" "subst" "35" "0.00161464" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:15" "CPS1_000065" "g.211454901C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019506" "" "0000019507" "0" "55" "2" "211455620" "211455620" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:17" "CPS1_000066" "g.211455620A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019507" "" "0000019508" "0" "55" "2" "211455628" "211455628" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:12:29" "CPS1_000067" "g.211455628C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019508" "" "0000019509" "0" "77" "2" "211456549" "211456549" "subst" "35" "0.000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-06-08 17:29:31" "CPS1_000068" "g.211456549C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019509" "" "0000019510" "0" "99" "2" "211456617" "211456617" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:27" "CPS1_000001" "g.211456617A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000857" "" "0000019511" "0" "55" "2" "211456628" "211456628" "subst" "35" "0.000691988" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:30" "CPS1_000069" "g.211456628T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019511" "" "0000019512" "0" "33" "2" "211456637" "211456637" "subst" "35" "0.591727" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:37" "CPS1_000070" "g.211456637A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019512" "" "0000019513" "0" "33" "2" "211456637" "211456637" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:41" "CPS1_000071" "g.211456637A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019513" "" "0000019514" "0" "11" "2" "211456639" "211456639" "subst" "35" "0.59757" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:44" "CPS1_000072" "g.211456639C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019514" "" "0000019515" "0" "33" "2" "211456675" "211456675" "subst" "35" "0.0140704" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:47" "CPS1_000073" "g.211456675C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019515" "" "0000019516" "0" "77" "2" "211457596" "211457596" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:51" "CPS1_000074" "g.211457596C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019516" "" "0000019517" "0" "33" "2" "211459227" "211459227" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:54" "CPS1_000075" "g.211459227T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019517" "" "0000019518" "0" "55" "2" "211460254" "211460254" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:57" "CPS1_000076" "g.211460254G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019518" "" "0000019519" "0" "77" "2" "211460313" "211460313" "subst" "35" "0.0106105" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-05 11:00:39" "CPS1_000077" "g.211460313G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019519" "" "0000019520" "0" "33" "2" "211464173" "211464173" "subst" "35" "0.000922651" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:39:07" "CPS1_000078" "g.211464173G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019520" "" "0000019521" "0" "55" "2" "211464214" "211464214" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:39:10" "CPS1_000079" "g.211464214C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019521" "" "0000019522" "0" "33" "2" "211465298" "211465298" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:39:13" "CPS1_000080" "g.211465298A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019522" "" "0000019523" "0" "99" "2" "211465360" "211465360" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-31 13:39:44" "CPS1_000002" "g.211465360C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000858" "" "0000019524" "0" "99" "2" "211469901" "211469901" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-25 13:55:40" "CPS1_000017" "g.211469901C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019524" "" "0000019525" "0" "55" "2" "211471447" "211471447" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:07" "CPS1_000018" "g.211471447A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019525" "" "0000019526" "0" "77" "2" "211471671" "211471671" "subst" "35" "0.000461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 20:52:43" "CPS1_000019" "g.211471671A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019526" "" "0000019527" "0" "11" "2" "211473070" "211473070" "subst" "35" "0.0838462" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:13" "CPS1_000020" "g.211473070G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019527" "" "0000019528" "0" "33" "2" "211473157" "211473157" "subst" "35" "0.0103029" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:16" "CPS1_000021" "g.211473157C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019528" "" "0000019529" "0" "33" "2" "211473157" "211473157" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:20" "CPS1_000022" "g.211473157C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019529" "" "0000019530" "0" "99" "2" "211473251" "211473251" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:12:29" "CPS1_000003" "g.211473251C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000859" "" "0000019531" "0" "77" "2" "211473268" "211473268" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:27" "CPS1_000023" "g.211473268G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019531" "" "0000019532" "0" "33" "2" "211476843" "211476843" "subst" "51" "0.00830386" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-26 09:25:24" "CPS1_000024" "g.211476843C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019532" "" "0000019533" "0" "55" "2" "211476856" "211476856" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-12 00:00:42" "CPS1_000025" "g.211476856C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019533" "" "0000019534" "0" "33" "2" "211476870" "211476870" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-12 02:23:01" "CPS1_000026" "g.211476870G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019534" "" "0000019535" "0" "55" "2" "211476890" "211476890" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-12 00:41:25" "CPS1_000027" "g.211476890G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019535" "" "0000019536" "0" "33" "2" "211476897" "211476897" "subst" "35" "0.0203752" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-12 02:03:16" "CPS1_000028" "g.211476897C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019536" "" "0000019537" "0" "11" "2" "211481257" "211481257" "subst" "35" "0.662233" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-12 01:16:50" "CPS1_000029" "g.211481257C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019537" "" "0000019538" "0" "55" "2" "211502487" "211502487" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-12 02:53:33" "CPS1_000030" "g.211502487A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019538" "" "0000019539" "0" "11" "2" "211503856" "211503856" "subst" "35" "0.0186894" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-12 01:12:44" "CPS1_000031" "g.211503856A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019539" "" "0000019540" "0" "55" "2" "211503889" "211503889" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-12 02:44:26" "CPS1_000032" "g.211503889G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019540" "" "0000019541" "0" "77" "2" "211503927" "211503939" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-12 03:07:46" "CPS1_000033" "g.211503927_211503939del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019541" "" "0000019542" "0" "99" "2" "211504769" "211504769" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-12 02:48:32" "CPS1_000004" "g.211504769G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000860" "" "0000019543" "0" "00" "2" "211507278" "211507280" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-12 00:49:06" "CPS1_000034" "g.211507278_211507280del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019543" "" "0000019544" "0" "55" "2" "211507369" "211507369" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:37:30" "CPS1_000035" "g.211507369C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019544" "" "0000019545" "0" "00" "2" "211507400" "211507400" "del" "35" "0.00655057" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:37:34" "CPS1_000036" "g.211507400del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019545" "" "0000019546" "0" "33" "2" "211513215" "211513215" "subst" "35" "0.0159926" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:37:38" "CPS1_000037" "g.211513215G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019546" "" "0000019547" "0" "55" "2" "211515146" "211515146" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:37:42" "CPS1_000038" "g.211515146C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019547" "" "0000019548" "0" "77" "2" "211518741" "211518741" "subst" "35" "0.00507458" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:37:46" "CPS1_000039" "g.211518741C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019548" "" "0000019549" "0" "77" "2" "211518742" "211518742" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-28 19:35:01" "CPS1_000081" "g.211518742G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019549" "" "0000019550" "0" "55" "2" "211518833" "211518833" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:39:24" "CPS1_000082" "g.211518833G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019550" "" "0000019551" "0" "77" "2" "211521316" "211521316" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:39:27" "CPS1_000083" "g.211521316T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019551" "" "0000019552" "0" "55" "2" "211521333" "211521333" "subst" "35" "0.000999539" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:39:31" "CPS1_000010" "g.211521333A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002854" "" "0000019553" "0" "33" "2" "211523379" "211523379" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 17:49:43" "CPS1_000084" "g.211523379C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019553" "" "0000019554" "0" "55" "2" "211525309" "211525309" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:16" "CPS1_000040" "g.211525309A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019554" "" "0000019555" "0" "55" "2" "211525326" "211525326" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:20" "CPS1_000041" "g.211525326C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019555" "" "0000019556" "0" "00" "2" "211527828" "211527828" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:24" "CPS1_000042" "g.211527828del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019556" "" "0000019557" "0" "33" "2" "211527828" "211527829" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:39" "CPS1_000043" "g.211527828_211527829del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019557" "" "0000019558" "0" "99" "2" "211527899" "211527899" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:43" "CPS1_000044" "g.211527899G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019558" "" "0000019559" "0" "33" "2" "211532975" "211532975" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:47" "CPS1_000045" "g.211532975G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019559" "" "0000019560" "0" "11" "2" "211539650" "211539650" "subst" "35" "0.0123789" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:51" "CPS1_000046" "g.211539650G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019560" "" "0000019561" "0" "00" "2" "211540486" "211540486" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:55" "CPS1_000006" "g.211540486A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000862" "" "0000019562" "0" "11" "2" "211540507" "211540507" "subst" "35" "0.329156" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-05-04 13:12:30" "CPS1_000011" "g.211540507C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002856" "" "0000019563" "0" "55" "2" "211540542" "211540542" "subst" "35" "0.000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:01" "CPS1_000047" "g.211540542C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019563" "" "0000019564" "0" "77" "2" "211540550" "211540550" "subst" "35" "0.00653545" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:04" "CPS1_000048" "g.211540550C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019564" "" "0000019565" "0" "33" "2" "211541721" "211541721" "subst" "35" "0.0373674" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:08" "CPS1_000049" "g.211541721A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019565" "" "0000019566" "0" "77" "2" "211541864" "211541864" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:12" "CPS1_000050" "g.211541864T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019566" "" "0000019567" "0" "55" "2" "211542714" "211542714" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:15" "CPS1_000051" "g.211542714G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019567" "" "0000019568" "0" "55" "2" "211542783" "211542783" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:20" "CPS1_000052" "g.211542783T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019568" "" "0000019569" "0" "55" "2" "211542896" "211542896" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:24" "CPS1_000053" "g.211542896C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019569" "" "0000019570" "0" "55" "2" "211542944" "211542944" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:29" "CPS1_000054" "g.211542944A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019570" "" "0000019571" "0" "55" "2" "211543020" "211543020" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:32" "CPS1_000055" "g.211543020A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019571" "" "0000019572" "0" "11" "2" "211543055" "211543055" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:36" "CPS1_000056" "g.211543055T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019572" "" "0000019573" "0" "33" "2" "211543089" "211543089" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:41" "CPS1_000057" "g.211543089C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019573" "" "0000019574" "0" "55" "2" "211543096" "211543096" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:45" "CPS1_000058" "g.211543096C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019574" "" "0000019575" "0" "11" "2" "211543147" "211543147" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:49" "CPS1_000059" "g.211543147T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019575" "" "0000019576" "0" "11" "2" "211543401" "211543401" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:52" "CPS1_000060" "g.211543401C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019576" "" "0000019577" "0" "55" "2" "211543448" "211543448" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:56" "CPS1_000061" "g.211543448T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019577" "" "0000019578" "0" "33" "2" "211543463" "211543463" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:59" "CPS1_000062" "g.211543463T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019578" "" "0000019579" "0" "55" "2" "211543486" "211543486" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:58" "CPS1_000063" "g.211543486A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019579" "" "0000019580" "0" "55" "2" "211543558" "211543558" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:12:02" "CPS1_000064" "g.211543558A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019580" "" "0000019581" "0" "55" "2" "211543655" "211543655" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:41" "CPS1_000012" "g.211543655C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019581" "" "0000019582" "0" "55" "2" "211543685" "211543685" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:45" "CPS1_000013" "g.211543685C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019582" "" "0000019583" "0" "55" "2" "211543749" "211543749" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:50" "CPS1_000014" "g.211543749C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019583" "" "0000019584" "0" "55" "2" "211543777" "211543777" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:54" "CPS1_000015" "g.211543777G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019584" "" "0000019585" "0" "55" "2" "211543826" "211543826" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-30 18:22:35" "CPS1_000016" "g.211543826A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019585" "" "0000025792" "0" "00" "2" "211342489" "211342489" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:50:32" "CPS1_000200" "g.211342489T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025793" "0" "00" "2" "211421455" "211421455" "delins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-08 00:38:01" "CPS1_000199" "g.211421455delinsTTCC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025794" "0" "00" "2" "211421460" "211421460" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-23 16:25:09" "CPS1_000192" "g.211421460G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025795" "0" "00" "2" "211421482" "211421482" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:44" "CPS1_000193" "g.211421482A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025796" "0" "00" "2" "211421584" "211421584" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:04:07" "CPS1_000194" "g.211421584G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025797" "0" "00" "2" "211438062" "211438062" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:04:27" "CPS1_000195" "g.211438062T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025798" "0" "00" "2" "211438132" "211438132" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 03:12:29" "CPS1_000196" "g.211438132G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025799" "0" "00" "2" "211441092" "211441092" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:03" "CPS1_000197" "g.211441092C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025800" "0" "00" "2" "211441134" "211441134" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-05 07:26:46" "CPS1_000198" "g.211441134del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025801" "0" "00" "2" "211441136" "211441136" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-09-26 23:23:28" "CPS1_000181" "g.211441136T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025802" "0" "00" "2" "211444486" "211444486" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:45:15" "CPS1_000182" "g.211444486C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025803" "0" "00" "2" "211444494" "211444494" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 03:12:29" "CPS1_000183" "g.211444494G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025804" "0" "00" "2" "211447398" "211447398" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:45:44" "CPS1_000184" "g.211447398A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025805" "0" "00" "2" "211447405" "211447406" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:45:58" "CPS1_000185" "g.211447405_211447406del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025806" "0" "00" "2" "211452872" "211452872" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:46:13" "CPS1_000186" "g.211452872G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025807" "0" "00" "2" "211454830" "211454830" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 03:12:29" "CPS1_000187" "g.211454830C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025808" "0" "00" "2" "211454831" "211454831" "subst" "35" "0.000538213" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-28 15:56:20" "CPS1_000188" "g.211454831G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025809" "0" "00" "2" "211454848" "211454848" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:20:54" "CPS1_000156" "g.211454848del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025810" "0" "00" "2" "211454881" "211454881" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:21:09" "CPS1_000157" "g.211454881G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025811" "0" "00" "2" "211454913" "211454913" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:21:25" "CPS1_000158" "g.211454913del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025812" "0" "00" "2" "211454956" "211454957" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-17 19:16:45" "CPS1_000159" "g.211454956_211454957insAGGTGC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025813" "0" "00" "2" "211455585" "211455585" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-11 17:25:47" "CPS1_000160" "g.211455585G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025814" "0" "00" "2" "211456632" "211456634" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:22:10" "CPS1_000161" "g.211456632_211456634del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025815" "0" "00" "2" "211456670" "211456670" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 03:12:29" "CPS1_000162" "g.211456670A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025816" "0" "00" "2" "211456694" "211456694" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:22:40" "CPS1_000163" "g.211456694G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025817" "0" "00" "2" "211457661" "211457661" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 03:12:29" "CPS1_000164" "g.211457661C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025818" "0" "00" "2" "211459254" "211459254" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:13:32" "CPS1_000131" "g.211459254C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025819" "0" "00" "2" "211459268" "211459268" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:13:50" "CPS1_000132" "g.211459268G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025820" "0" "00" "2" "211459335" "211459335" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:14:05" "CPS1_000133" "g.211459335G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025821" "0" "00" "2" "211460259" "211460259" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:14:33" "CPS1_000134" "g.211460259G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025822" "0" "00" "2" "211460259" "211460259" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:14:48" "CPS1_000135" "g.211460259G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025823" "0" "00" "2" "211460267" "211460268" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-25 17:02:34" "CPS1_000136" "g.211460267_211460268insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025824" "0" "00" "2" "211460302" "211460302" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:19" "CPS1_000137" "g.211460302T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025825" "0" "00" "2" "211464147" "211464148" "ins" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 03:12:29" "CPS1_000138" "g.211464147_211464148insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025826" "0" "00" "2" "211464264" "211464264" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:50" "CPS1_000139" "g.211464264del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025827" "0" "00" "2" "211465356" "211465356" "subst" "51" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 03:12:29" "CPS1_000140" "g.211465356G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025828" "0" "00" "2" "211465377" "211465377" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:16:22" "CPS1_000141" "g.211465377T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025829" "0" "00" "2" "211466978" "211466978" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-09-29 08:33:53" "CPS1_000142" "g.211466978G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025830" "0" "00" "2" "211466992" "211466993" "ins" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 03:12:29" "CPS1_000143" "g.211466992_211466993insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025831" "0" "00" "2" "211469818" "211469818" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 03:12:29" "CPS1_000144" "g.211469818A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025832" "0" "00" "2" "211469853" "211469853" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:17:27" "CPS1_000145" "g.211469853G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025833" "0" "00" "2" "211469884" "211469884" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:17:42" "CPS1_000146" "g.211469884T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025834" "0" "00" "2" "211469915" "211469915" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 03:12:29" "CPS1_000147" "g.211469915del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025835" "0" "00" "2" "211471454" "211471454" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:18:14" "CPS1_000148" "g.211471454G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025836" "0" "00" "2" "211471621" "211471621" "subst" "35" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:18:29" "CPS1_000149" "g.211471621T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025837" "0" "00" "2" "211471634" "211471634" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:18:44" "CPS1_000150" "g.211471634C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025838" "0" "00" "2" "211473084" "211473084" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:18:59" "CPS1_000151" "g.211473084G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025839" "0" "00" "2" "211473117" "211473117" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:19:14" "CPS1_000152" "g.211473117del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025840" "0" "00" "2" "211473284" "211473284" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:19:29" "CPS1_000153" "g.211473284G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025841" "0" "00" "2" "211476840" "211476840" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-01 02:08:54" "CPS1_000104" "g.211476840G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025842" "0" "00" "2" "211476864" "211476864" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 01:58:10" "CPS1_000105" "g.211476864T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025843" "0" "00" "2" "211476878" "211476878" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 00:06:44" "CPS1_000106" "g.211476878A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025844" "0" "00" "2" "211476889" "211476889" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 01:38:05" "CPS1_000107" "g.211476889C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025845" "0" "00" "2" "211476895" "211476895" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 00:14:46" "CPS1_000108" "g.211476895T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025846" "0" "00" "2" "211476986" "211476986" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 01:51:08" "CPS1_000109" "g.211476986C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025847" "0" "00" "2" "211481157" "211481159" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 02:40:16" "CPS1_000110" "g.211481157_211481159del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025848" "0" "00" "2" "211502470" "211502470" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 00:42:26" "CPS1_000111" "g.211502470G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025849" "0" "00" "2" "211502476" "211502476" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 02:56:43" "CPS1_000112" "g.211502476C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025850" "0" "00" "2" "211502478" "211502478" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 00:26:09" "CPS1_000113" "g.211502478G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025851" "0" "00" "2" "211502547" "211502548" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 02:12:43" "CPS1_000114" "g.211502547_211502548del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025852" "0" "00" "2" "211502548" "211502548" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 00:32:16" "CPS1_000115" "g.211502548T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025853" "0" "00" "2" "211504733" "211504733" "subst" "35" "0.00061529" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 00:24:00" "CPS1_000116" "g.211504733A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025854" "0" "00" "2" "211504768" "211504768" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 02:18:56" "CPS1_000117" "g.211504768G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025855" "0" "00" "2" "211504769" "211504769" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 01:28:02" "CPS1_000005" "g.211504769G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025856" "0" "00" "2" "211504781" "211504781" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 01:44:06" "CPS1_000118" "g.211504781T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025857" "0" "00" "2" "211504783" "211504783" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-11 23:42:17" "CPS1_000119" "g.211504783del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025858" "0" "00" "2" "211504783" "211504783" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 02:07:38" "CPS1_000120" "g.211504783G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025859" "0" "00" "2" "211507241" "211507241" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 01:22:51" "CPS1_000121" "g.211507241C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025860" "0" "00" "2" "211507295" "211507295" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 01:31:03" "CPS1_000122" "g.211507295A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025861" "0" "00" "2" "211507317" "211507317" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-12 02:31:14" "CPS1_000123" "g.211507317C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025862" "0" "00" "2" "211507390" "211507390" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:57:44" "CPS1_000124" "g.211507390G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025863" "0" "00" "2" "211512628" "211512628" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:57:59" "CPS1_000125" "g.211512628del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025864" "0" "00" "2" "211512639" "211512639" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:14" "CPS1_000126" "g.211512639C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025865" "0" "00" "2" "211512710" "211512710" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:58:29" "CPS1_000127" "g.211512710C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025866" "0" "00" "2" "211513232" "211513232" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:19:44" "CPS1_000154" "g.211513232del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025867" "0" "00" "2" "211515125" "211515125" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:20:00" "CPS1_000155" "g.211515125T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025868" "0" "00" "2" "211518824" "211518825" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:23:11" "CPS1_000165" "g.211518824_211518825insGG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025869" "0" "00" "2" "211518827" "211518827" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:23:26" "CPS1_000166" "g.211518827G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025870" "0" "00" "2" "211521247" "211521247" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:23:41" "CPS1_000167" "g.211521247A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025871" "0" "00" "2" "211523339" "211523339" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:23:56" "CPS1_000168" "g.211523339G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025872" "0" "00" "2" "211525236" "211525236" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:24:12" "CPS1_000169" "g.211525236C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025873" "0" "00" "2" "211525237" "211525237" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:24:27" "CPS1_000170" "g.211525237G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025874" "0" "00" "2" "211527871" "211527871" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:24:42" "CPS1_000171" "g.211527871T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025875" "0" "00" "2" "211527923" "211527923" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:24:57" "CPS1_000172" "g.211527923T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025876" "0" "00" "2" "211532908" "211532908" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:25:12" "CPS1_000173" "g.211532908A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025877" "0" "00" "2" "211532909" "211532909" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:25:27" "CPS1_000174" "g.211532909G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025878" "0" "00" "2" "211532962" "211532962" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:25:42" "CPS1_000175" "g.211532962del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025879" "0" "00" "2" "211533010" "211533010" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:25:57" "CPS1_000176" "g.211533010T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025880" "0" "00" "2" "211539063" "211539063" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:26:12" "CPS1_000177" "g.211539063G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025881" "0" "00" "2" "211539065" "211539065" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:26:27" "CPS1_000178" "g.211539065T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025882" "0" "00" "2" "211539067" "211539067" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:26:43" "CPS1_000179" "g.211539067G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025883" "0" "00" "2" "211539636" "211539636" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:26:58" "CPS1_000180" "g.211539636G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025884" "0" "00" "2" "211540462" "211540462" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:47:08" "CPS1_000189" "g.211540462C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025885" "0" "00" "2" "211540522" "211540522" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:47:26" "CPS1_000190" "g.211540522C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025886" "0" "00" "2" "211540566" "211540566" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:47:44" "CPS1_000191" "g.211540566T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025887" "0" "00" "2" "211541838" "211541838" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 20:18:25" "CPS1_000128" "g.211541838T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025888" "0" "00" "2" "211542677" "211542677" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 20:18:40" "CPS1_000129" "g.211542677T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025889" "0" "00" "2" "211542707" "211542707" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 20:18:55" "CPS1_000130" "g.211542707T>G" "" "" "" "" "" "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 = 590 "{{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}}" "0000000856" "00000657" "99" "148" "0" "148" "0" "c.148C>T" "3/5" "p.?" "r.?" "-" "" "stop_gained" "" "" "-" "0000000856" "00000658" "99" "130" "0" "130" "0" "c.130C>T" "4/5" "p.(Gln44*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000857" "00000657" "99" "1028" "0" "1028" "0" "c.1028A>G" "11/39" "p.?" "r.?" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000857" "00000658" "99" "1010" "0" "1010" "0" "c.1010A>G" "10/38" "p.(His337Arg)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000857" "00000659" "99" "-509" "-1462" "-509" "-1462" "c.-1971A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000858" "00000657" "99" "1649" "0" "1649" "0" "c.1649C>T" "16/39" "p.?" "r.?" "possibly_damaging(0.755)" "" "missense_variant" "" "" "deleterious(0)" "0000000858" "00000658" "99" "1631" "0" "1631" "0" "c.1631C>T" "15/38" "p.(Thr544Met)" "r.(?)" "possibly_damaging(0.573)" "" "missense_variant" "" "" "deleterious(0)" "0000000858" "00000659" "99" "278" "0" "278" "0" "c.278C>T" "5/28" "p.(Thr93Met)" "r.(?)" "possibly_damaging(0.573)" "" "missense_variant" "" "" "deleterious(0)" "0000000859" "00000657" "99" "2377" "0" "2377" "0" "c.2377C>T" "20/39" "p.?" "r.?" "-" "" "stop_gained" "" "" "-" "0000000859" "00000658" "99" "2359" "0" "2359" "0" "c.2359C>T" "19/38" "p.(Arg787*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000859" "00000659" "99" "1006" "0" "1006" "0" "c.1006C>T" "9/28" "p.(Arg336*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000860" "00000657" "99" "2963" "0" "2963" "0" "c.2963G>A" "25/39" "p.?" "r.?" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000860" "00000658" "99" "2945" "0" "2945" "0" "c.2945G>A" "24/38" "p.(Gly982Asp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000860" "00000659" "99" "1592" "0" "1592" "0" "c.1592G>A" "14/28" "p.(Gly531Asp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000861" "00000657" "99" "2963" "0" "2963" "0" "c.2963G>T" "25/39" "p.?" "r.?" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000861" "00000658" "99" "2945" "0" "2945" "0" "c.2945G>T" "24/38" "p.(Gly982Val)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000861" "00000659" "99" "1592" "0" "1592" "0" "c.1592G>T" "14/28" "p.(Gly531Val)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000862" "00000657" "77" "4214" "0" "4214" "0" "c.4214A>C" "37/39" "p.?" "r.?" "benign(0.015)" "" "missense_variant" "" "" "tolerated(0.96)" "0000000862" "00000658" "77" "4196" "0" "4196" "0" "c.4196A>C" "36/38" "p.(Asn1399Thr)" "r.(?)" "benign(0.026)" "" "missense_variant" "" "" "tolerated(0.98)" "0000000862" "00000659" "77" "2843" "0" "2843" "0" "c.2843A>C" "26/28" "p.(Asn948Thr)" "r.(?)" "benign(0.026)" "" "missense_variant" "" "" "tolerated(0.72)" "0000002849" "00000657" "55" "1936" "0" "1936" "0" "c.1936G>T" "18/39" "p.?" "r.?" "benign(0.007)" "" "missense_variant" "" "" "tolerated(0.14)" "0000002849" "00000658" "55" "1918" "0" "1918" "0" "c.1918G>T" "17/38" "p.(Ala640Ser)" "r.(?)" "benign(0.012)" "" "missense_variant" "" "" "tolerated(0.14)" "0000002849" "00000659" "55" "565" "0" "565" "0" "c.565G>T" "7/28" "p.(Ala189Ser)" "r.(?)" "benign(0.012)" "" "missense_variant" "" "" "tolerated(0.17)" "0000002851" "00000657" "55" "2641" "0" "2641" "0" "c.2641A>G" "22/39" "p.?" "r.?" "benign(0.189)" "" "missense_variant" "" "" "deleterious(0.01)" "0000002851" "00000658" "55" "2623" "0" "2623" "0" "c.2623A>G" "21/38" "p.(Lys875Glu)" "r.(?)" "benign(0.281)" "" "missense_variant" "" "" "deleterious(0.01)" "0000002851" "00000659" "55" "1270" "0" "1270" "0" "c.1270A>G" "11/28" "p.(Lys424Glu)" "r.(?)" "benign(0.281)" "" "missense_variant" "" "" "deleterious(0.04)" "0000002854" "00000657" "55" "3661" "0" "3661" "0" "c.3661A>G" "31/39" "p.?" "r.?" "benign(0.036)" "" "missense_variant" "" "" "deleterious(0.02)" "0000002854" "00000658" "55" "3643" "0" "3643" "0" "c.3643A>G" "30/38" "p.(Ile1215Val)" "r.(?)" "benign(0.032)" "" "missense_variant" "" "" "deleterious(0.02)" "0000002854" "00000659" "55" "2290" "0" "2290" "0" "c.2290A>G" "20/28" "p.(Ile764Val)" "r.(?)" "benign(0.032)" "" "missense_variant" "" "" "deleterious(0.03)" "0000002856" "00000657" "55" "4235" "0" "4235" "0" "c.4235C>A" "37/39" "p.?" "r.?" "benign(0.01)" "" "missense_variant" "" "" "tolerated(0.25)" "0000005209" "00000657" "00" "4235" "0" "4235" "0" "c.4235C>A" "37/39" "p.(Thr1412Asn)" "r.(?)" "benign(0.01)" "" "missense_variant" "" "" "tolerated(0.25)" "0000005209" "00000658" "00" "4217" "0" "4217" "0" "c.4217C>A" "36/38" "p.(Thr1406Asn)" "r.(?)" "benign(0.017)" "" "missense_variant" "" "" "tolerated(0.25)" "0000005209" "00000659" "00" "2864" "0" "2864" "0" "c.2864C>A" "26/28" "p.(Thr955Asn)" "r.(?)" "benign(0.017)" "" "missense_variant" "" "" "tolerated(0.26)" "0000019486" "00000657" "00" "3" "12" "3" "12" "c.3+12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019487" "00000657" "00" "4" "-113" "4" "-113" "c.4-113G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019487" "00000658" "00" "-128" "0" "-128" "0" "c.-128G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019488" "00000657" "00" "4" "-61" "4" "-61" "c.4-61A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019488" "00000658" "00" "-76" "0" "-76" "0" "c.-76A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019489" "00000657" "00" "4" "-14" "4" "-14" "c.4-14T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019489" "00000658" "00" "-29" "0" "-29" "0" "c.-29T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019490" "00000657" "00" "13" "0" "14" "0" "c.13_14insTCT" "" "p.(Ile5_Lys6insPhe)" "r.(?)" "" "" "" "" "" "-" "0000019490" "00000658" "00" "-6" "0" "-5" "0" "c.-6_-5insTCT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019491" "00000657" "00" "23" "0" "23" "0" "c.23C>T" "" "p.(Thr8Met)" "r.(?)" "" "" "" "" "" "-" "0000019491" "00000658" "00" "5" "0" "5" "0" "c.5C>T" "" "p.(Thr2Met)" "r.(?)" "" "" "" "" "" "-" "0000019492" "00000657" "00" "148" "0" "148" "0" "c.148C>T" "" "p.(Gln50*)" "r.(?)" "" "" "" "" "" "-" "0000019492" "00000658" "00" "130" "0" "130" "0" "c.130C>T" "" "p.(Gln44*)" "r.(?)" "" "" "" "" "" "-" "0000019493" "00000657" "00" "204" "0" "204" "0" "c.204C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019493" "00000658" "00" "186" "0" "186" "0" "c.186C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019494" "00000657" "00" "213" "0" "213" "0" "c.213C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019494" "00000658" "00" "195" "0" "195" "0" "c.195C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019495" "00000657" "00" "226" "0" "227" "0" "c.226_227insAAGTGGTT" "" "p.(Phe79Lysfs*80)" "r.(?)" "" "" "" "" "" "-" "0000019495" "00000658" "00" "208" "0" "209" "0" "c.208_209insAAGTGGTT" "" "p.(Phe73Lysfs*80)" "r.(?)" "" "" "" "" "" "-" "0000019496" "00000657" "00" "254" "5" "254" "5" "c.254+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019496" "00000658" "00" "236" "5" "236" "5" "c.236+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019497" "00000657" "00" "313" "0" "313" "0" "c.313C>A" "" "p.(Pro105Thr)" "r.(?)" "" "" "" "" "" "-" "0000019497" "00000658" "00" "295" "0" "295" "0" "c.295C>A" "" "p.(Pro99Thr)" "r.(?)" "" "" "" "" "" "-" "0000019498" "00000657" "00" "320" "0" "321" "0" "c.320_321insTGGGAA" "" "p.(Asn109_Gly110dup)" "r.(?)" "" "" "" "" "" "-" "0000019498" "00000658" "00" "302" "0" "303" "0" "c.302_303insTGGGAA" "" "p.(Asn103_Gly104dup)" "r.(?)" "" "" "" "" "" "-" "0000019499" "00000657" "00" "467" "0" "467" "0" "c.467G>A" "" "p.(Gly156Glu)" "r.(?)" "" "" "" "" "" "-" "0000019499" "00000658" "00" "449" "0" "449" "0" "c.449G>A" "" "p.(Gly150Glu)" "r.(?)" "" "" "" "" "" "-" "0000019500" "00000657" "00" "504" "0" "504" "0" "c.504T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019500" "00000658" "00" "486" "0" "486" "0" "c.486T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019501" "00000657" "00" "505" "0" "505" "0" "c.505G>T" "" "p.(Gly169*)" "r.(?)" "" "" "" "" "" "-" "0000019501" "00000658" "00" "487" "0" "487" "0" "c.487G>T" "" "p.(Gly163*)" "r.(?)" "" "" "" "" "" "-" "0000019502" "00000657" "00" "546" "9" "546" "9" "c.546+9A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019502" "00000658" "00" "528" "9" "528" "9" "c.528+9A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019503" "00000657" "00" "547" "-4" "547" "-4" "c.547-4A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019503" "00000658" "00" "529" "-4" "529" "-4" "c.529-4A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019504" "00000657" "00" "655" "0" "655" "0" "c.655G>A" "" "p.(Gly219Ser)" "r.(?)" "" "" "" "" "" "-" "0000019504" "00000658" "00" "637" "0" "637" "0" "c.637G>A" "" "p.(Gly213Ser)" "r.(?)" "" "" "" "" "" "-" "0000019505" "00000657" "00" "715" "0" "715" "0" "c.715C>T" "" "p.(Arg239Cys)" "r.(?)" "" "" "" "" "" "-" "0000019505" "00000658" "00" "697" "0" "697" "0" "c.697C>T" "" "p.(Arg233Cys)" "r.(?)" "" "" "" "" "" "-" "0000019506" "00000657" "00" "801" "0" "801" "0" "c.801C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019506" "00000658" "00" "783" "0" "783" "0" "c.783C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019506" "00000659" "00" "-509" "-3178" "-509" "-3178" "c.-3687C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019507" "00000657" "00" "955" "0" "955" "0" "c.955A>G" "" "p.(Met319Val)" "r.(?)" "" "" "" "" "" "-" "0000019507" "00000658" "00" "937" "0" "937" "0" "c.937A>G" "" "p.(Met313Val)" "r.(?)" "" "" "" "" "" "-" "0000019507" "00000659" "00" "-509" "-2459" "-509" "-2459" "c.-2968A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019508" "00000657" "00" "963" "0" "963" "0" "c.963C>G" "" "p.(Asn321Lys)" "r.(?)" "" "" "" "" "" "-" "0000019508" "00000658" "00" "945" "0" "945" "0" "c.945C>G" "" "p.(Asn315Lys)" "r.(?)" "" "" "" "" "" "-" "0000019508" "00000659" "00" "-509" "-2451" "-509" "-2451" "c.-2960C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019509" "00000657" "00" "966" "-6" "966" "-6" "c.966-6C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019509" "00000658" "00" "948" "-6" "948" "-6" "c.948-6C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019509" "00000659" "00" "-509" "-1530" "-509" "-1530" "c.-2039C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019510" "00000657" "00" "1028" "0" "1028" "0" "c.1028A>G" "" "p.(His343Arg)" "r.(?)" "" "" "" "" "" "-" "0000019510" "00000658" "00" "1010" "0" "1010" "0" "c.1010A>G" "" "p.(His337Arg)" "r.(?)" "" "" "" "" "" "-" "0000019510" "00000659" "00" "-509" "-1462" "-509" "-1462" "c.-1971A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019511" "00000657" "00" "1039" "0" "1039" "0" "c.1039T>G" "" "p.(Leu347Val)" "r.(?)" "" "" "" "" "" "-" "0000019511" "00000658" "00" "1021" "0" "1021" "0" "c.1021T>G" "" "p.(Leu341Val)" "r.(?)" "" "" "" "" "" "-" "0000019511" "00000659" "00" "-509" "-1451" "-509" "-1451" "c.-1960T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019512" "00000657" "00" "1048" "0" "1048" "0" "c.1048A>G" "" "p.(Thr350Ala)" "r.(?)" "" "" "" "" "" "-" "0000019512" "00000658" "00" "1030" "0" "1030" "0" "c.1030A>G" "" "p.(Thr344Ala)" "r.(?)" "" "" "" "" "" "-" "0000019512" "00000659" "00" "-509" "-1442" "-509" "-1442" "c.-1951A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019513" "00000657" "00" "1048" "0" "1048" "0" "c.1048A>T" "" "p.(Thr350Ser)" "r.(?)" "" "" "" "" "" "-" "0000019513" "00000658" "00" "1030" "0" "1030" "0" "c.1030A>T" "" "p.(Thr344Ser)" "r.(?)" "" "" "" "" "" "-" "0000019513" "00000659" "00" "-509" "-1442" "-509" "-1442" "c.-1951A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019514" "00000657" "00" "1050" "0" "1050" "0" "c.1050C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019514" "00000658" "00" "1032" "0" "1032" "0" "c.1032C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019514" "00000659" "00" "-509" "-1440" "-509" "-1440" "c.-1949C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019515" "00000657" "00" "1086" "0" "1086" "0" "c.1086C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019515" "00000658" "00" "1068" "0" "1068" "0" "c.1068C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019515" "00000659" "00" "-509" "-1404" "-509" "-1404" "c.-1913C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019516" "00000657" "00" "1105" "-7" "1105" "-7" "c.1105-7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019516" "00000658" "00" "1087" "-7" "1087" "-7" "c.1087-7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019516" "00000659" "00" "-509" "-483" "-509" "-483" "c.-992C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019517" "00000657" "00" "1183" "-5" "1183" "-5" "c.1183-5T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019517" "00000658" "00" "1165" "-5" "1165" "-5" "c.1165-5T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019517" "00000659" "00" "-189" "-5" "-189" "-5" "c.-189-5T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019518" "00000657" "00" "1325" "0" "1325" "0" "c.1325G>A" "" "p.(Gly442Asp)" "r.(?)" "" "" "" "" "" "-" "0000019518" "00000658" "00" "1307" "0" "1307" "0" "c.1307G>A" "" "p.(Gly436Asp)" "r.(?)" "" "" "" "" "" "-" "0000019518" "00000659" "00" "-47" "0" "-47" "0" "c.-47G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019519" "00000657" "00" "1377" "7" "1377" "7" "c.1377+7G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019519" "00000658" "00" "1359" "7" "1359" "7" "c.1359+7G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019519" "00000659" "00" "6" "7" "6" "7" "c.6+7G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019520" "00000657" "00" "1455" "0" "1455" "0" "c.1455G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019520" "00000658" "00" "1437" "0" "1437" "0" "c.1437G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019520" "00000659" "00" "84" "0" "84" "0" "c.84G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019521" "00000657" "00" "1496" "0" "1496" "0" "c.1496C>T" "" "p.(Thr499Ile)" "r.(?)" "" "" "" "" "" "-" "0000019521" "00000658" "00" "1478" "0" "1478" "0" "c.1478C>T" "" "p.(Thr493Ile)" "r.(?)" "" "" "" "" "" "-" "0000019521" "00000659" "00" "125" "0" "125" "0" "c.125C>T" "" "p.(Thr42Ile)" "r.(?)" "" "" "" "" "" "-" "0000019522" "00000657" "00" "1587" "0" "1587" "0" "c.1587A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019522" "00000658" "00" "1569" "0" "1569" "0" "c.1569A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019522" "00000659" "00" "216" "0" "216" "0" "c.216A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019523" "00000657" "00" "1649" "0" "1649" "0" "c.1649C>T" "" "p.(Thr550Met)" "r.(?)" "" "" "" "" "" "-" "0000019523" "00000658" "00" "1631" "0" "1631" "0" "c.1631C>T" "" "p.(Thr544Met)" "r.(?)" "" "" "" "" "" "-" "0000019523" "00000659" "00" "278" "0" "278" "0" "c.278C>T" "" "p.(Thr93Met)" "r.(?)" "" "" "" "" "" "-" "0000019524" "00000657" "00" "1930" "0" "1930" "0" "c.1930C>T" "" "p.(Arg644*)" "r.(?)" "" "" "" "" "" "-" "0000019524" "00000658" "00" "1912" "0" "1912" "0" "c.1912C>T" "" "p.(Arg638*)" "r.(?)" "" "" "" "" "" "-" "0000019524" "00000659" "00" "559" "0" "559" "0" "c.559C>T" "" "p.(Arg187*)" "r.(?)" "" "" "" "" "" "-" "0000019525" "00000657" "00" "2000" "-8" "2000" "-8" "c.2000-8A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019525" "00000658" "00" "1982" "-8" "1982" "-8" "c.1982-8A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019525" "00000659" "00" "629" "-8" "629" "-8" "c.629-8A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019526" "00000657" "00" "2210" "6" "2210" "6" "c.2210+6A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019526" "00000658" "00" "2192" "6" "2192" "6" "c.2192+6A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019526" "00000659" "00" "839" "6" "839" "6" "c.839+6A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019527" "00000657" "00" "2211" "-15" "2211" "-15" "c.2211-15G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019527" "00000658" "00" "2193" "-15" "2193" "-15" "c.2193-15G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019527" "00000659" "00" "840" "-15" "840" "-15" "c.840-15G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019528" "00000657" "00" "2283" "0" "2283" "0" "c.2283C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019528" "00000658" "00" "2265" "0" "2265" "0" "c.2265C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019528" "00000659" "00" "912" "0" "912" "0" "c.912C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019529" "00000657" "00" "2283" "0" "2283" "0" "c.2283C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019529" "00000658" "00" "2265" "0" "2265" "0" "c.2265C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019529" "00000659" "00" "912" "0" "912" "0" "c.912C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019530" "00000657" "00" "2377" "0" "2377" "0" "c.2377C>T" "" "p.(Arg793*)" "r.(?)" "" "" "" "" "" "-" "0000019530" "00000658" "00" "2359" "0" "2359" "0" "c.2359C>T" "" "p.(Arg787*)" "r.(?)" "" "" "" "" "" "-" "0000019530" "00000659" "00" "1006" "0" "1006" "0" "c.1006C>T" "" "p.(Arg336*)" "r.(?)" "" "" "" "" "" "-" "0000019531" "00000657" "00" "2394" "0" "2394" "0" "c.2394G>C" "" "p.(Met798Ile)" "r.(?)" "" "" "" "" "" "-" "0000019531" "00000658" "00" "2376" "0" "2376" "0" "c.2376G>C" "" "p.(Met792Ile)" "r.(?)" "" "" "" "" "" "-" "0000019531" "00000659" "00" "1023" "0" "1023" "0" "c.1023G>C" "" "p.(Met341Ile)" "r.(?)" "" "" "" "" "" "-" "0000019532" "00000657" "00" "2412" "0" "2412" "0" "c.2412C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019532" "00000658" "00" "2394" "0" "2394" "0" "c.2394C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019532" "00000659" "00" "1041" "0" "1041" "0" "c.1041C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019533" "00000657" "00" "2425" "0" "2425" "0" "c.2425C>T" "" "p.(Arg809Cys)" "r.(?)" "" "" "" "" "" "-" "0000019533" "00000658" "00" "2407" "0" "2407" "0" "c.2407C>T" "" "p.(Arg803Cys)" "r.(?)" "" "" "" "" "" "-" "0000019533" "00000659" "00" "1054" "0" "1054" "0" "c.1054C>T" "" "p.(Arg352Cys)" "r.(?)" "" "" "" "" "" "-" "0000019534" "00000657" "00" "2439" "0" "2439" "0" "c.2439G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019534" "00000658" "00" "2421" "0" "2421" "0" "c.2421G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019534" "00000659" "00" "1068" "0" "1068" "0" "c.1068G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019535" "00000657" "00" "2459" "0" "2459" "0" "c.2459G>A" "" "p.(Arg820Gln)" "r.(?)" "" "" "" "" "" "-" "0000019535" "00000658" "00" "2441" "0" "2441" "0" "c.2441G>A" "" "p.(Arg814Gln)" "r.(?)" "" "" "" "" "" "-" "0000019535" "00000659" "00" "1088" "0" "1088" "0" "c.1088G>A" "" "p.(Arg363Gln)" "r.(?)" "" "" "" "" "" "-" "0000019536" "00000657" "00" "2466" "0" "2466" "0" "c.2466C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019536" "00000658" "00" "2448" "0" "2448" "0" "c.2448C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019536" "00000659" "00" "1095" "0" "1095" "0" "c.1095C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019537" "00000657" "00" "2697" "0" "2697" "0" "c.2697C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019537" "00000658" "00" "2679" "0" "2679" "0" "c.2679C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019537" "00000659" "00" "1326" "0" "1326" "0" "c.1326C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019538" "00000657" "00" "2767" "0" "2767" "0" "c.2767A>G" "" "p.(Ile923Val)" "r.(?)" "" "" "" "" "" "-" "0000019538" "00000658" "00" "2749" "0" "2749" "0" "c.2749A>G" "" "p.(Ile917Val)" "r.(?)" "" "" "" "" "" "-" "0000019538" "00000659" "00" "1396" "0" "1396" "0" "c.1396A>G" "" "p.(Ile466Val)" "r.(?)" "" "" "" "" "" "-" "0000019539" "00000657" "00" "2848" "-18" "2848" "-18" "c.2848-18A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019539" "00000658" "00" "2830" "-18" "2830" "-18" "c.2830-18A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019539" "00000659" "00" "1477" "-18" "1477" "-18" "c.1477-18A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019540" "00000657" "00" "2863" "0" "2863" "0" "c.2863G>A" "" "p.(Ala955Thr)" "r.(?)" "" "" "" "" "" "-" "0000019540" "00000658" "00" "2845" "0" "2845" "0" "c.2845G>A" "" "p.(Ala949Thr)" "r.(?)" "" "" "" "" "" "-" "0000019540" "00000659" "00" "1492" "0" "1492" "0" "c.1492G>A" "" "p.(Ala498Thr)" "r.(?)" "" "" "" "" "" "-" "0000019541" "00000657" "00" "2901" "0" "2913" "0" "c.2901_2913del" "" "p.(Tyr968Serfs*11)" "r.(?)" "" "" "" "" "" "-" "0000019541" "00000658" "00" "2883" "0" "2895" "0" "c.2883_2895del" "" "p.(Tyr962Serfs*11)" "r.(?)" "" "" "" "" "" "-" "0000019541" "00000659" "00" "1530" "0" "1542" "0" "c.1530_1542del" "" "p.(Tyr511Serfs*11)" "r.(?)" "" "" "" "" "" "-" "0000019542" "00000657" "00" "2963" "0" "2963" "0" "c.2963G>A" "" "p.(Gly988Asp)" "r.(?)" "" "" "" "" "" "-" "0000019542" "00000658" "00" "2945" "0" "2945" "0" "c.2945G>A" "" "p.(Gly982Asp)" "r.(?)" "" "" "" "" "" "-" "0000019542" "00000659" "00" "1592" "0" "1592" "0" "c.1592G>A" "" "p.(Gly531Asp)" "r.(?)" "" "" "" "" "" "-" "0000019543" "00000657" "00" "3048" "0" "3050" "0" "c.3048_3050del" "" "p.(Val1019del)" "r.(?)" "" "" "" "" "" "-" "0000019543" "00000658" "00" "3030" "0" "3032" "0" "c.3030_3032del" "" "p.(Val1013del)" "r.(?)" "" "" "" "" "" "-" "0000019543" "00000659" "00" "1677" "0" "1679" "0" "c.1677_1679del" "" "p.(Val562del)" "r.(?)" "" "" "" "" "" "-" "0000019544" "00000657" "00" "3139" "0" "3139" "0" "c.3139C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019544" "00000658" "00" "3121" "0" "3121" "0" "c.3121C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019544" "00000659" "00" "1768" "0" "1768" "0" "c.1768C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019545" "00000657" "00" "3159" "11" "3159" "11" "c.3159+11del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019545" "00000658" "00" "3141" "11" "3141" "11" "c.3141+11del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019545" "00000659" "00" "1788" "11" "1788" "11" "c.1788+11del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019546" "00000657" "00" "3373" "0" "3373" "0" "c.3373G>A" "" "p.(Ala1125Thr)" "r.(?)" "" "" "" "" "" "-" "0000019546" "00000658" "00" "3355" "0" "3355" "0" "c.3355G>A" "" "p.(Ala1119Thr)" "r.(?)" "" "" "" "" "" "-" "0000019546" "00000659" "00" "2002" "0" "2002" "0" "c.2002G>A" "" "p.(Ala668Thr)" "r.(?)" "" "" "" "" "" "-" "0000019547" "00000657" "00" "3482" "0" "3482" "0" "c.3482C>T" "" "p.(Ala1161Val)" "r.(?)" "" "" "" "" "" "-" "0000019547" "00000658" "00" "3464" "0" "3464" "0" "c.3464C>T" "" "p.(Ala1155Val)" "r.(?)" "" "" "" "" "" "-" "0000019547" "00000659" "00" "2111" "0" "2111" "0" "c.2111C>T" "" "p.(Ala704Val)" "r.(?)" "" "" "" "" "" "-" "0000019548" "00000657" "00" "3499" "-8" "3499" "-8" "c.3499-8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019548" "00000658" "00" "3481" "-8" "3481" "-8" "c.3481-8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019548" "00000659" "00" "2128" "-8" "2128" "-8" "c.2128-8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019549" "00000657" "00" "3499" "-7" "3499" "-7" "c.3499-7G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019549" "00000658" "00" "3481" "-7" "3481" "-7" "c.3481-7G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019549" "00000659" "00" "2128" "-7" "2128" "-7" "c.2128-7G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019550" "00000657" "00" "3576" "7" "3576" "7" "c.3576+7G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019550" "00000658" "00" "3558" "7" "3558" "7" "c.3558+7G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019550" "00000659" "00" "2205" "7" "2205" "7" "c.2205+7G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019551" "00000657" "00" "3644" "0" "3644" "0" "c.3644T>C" "" "p.(Met1215Thr)" "r.(?)" "" "" "" "" "" "-" "0000019551" "00000658" "00" "3626" "0" "3626" "0" "c.3626T>C" "" "p.(Met1209Thr)" "r.(?)" "" "" "" "" "" "-" "0000019551" "00000659" "00" "2273" "0" "2273" "0" "c.2273T>C" "" "p.(Met758Thr)" "r.(?)" "" "" "" "" "" "-" "0000019552" "00000657" "00" "3661" "0" "3661" "0" "c.3661A>G" "" "p.(Ile1221Val)" "r.(?)" "" "" "" "" "" "-" "0000019552" "00000658" "00" "3643" "0" "3643" "0" "c.3643A>G" "" "p.(Ile1215Val)" "r.(?)" "" "" "" "" "" "-" "0000019552" "00000659" "00" "2290" "0" "2290" "0" "c.2290A>G" "" "p.(Ile764Val)" "r.(?)" "" "" "" "" "" "-" "0000019553" "00000657" "00" "3741" "0" "3741" "0" "c.3741C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019553" "00000658" "00" "3723" "0" "3723" "0" "c.3723C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019553" "00000659" "00" "2370" "0" "2370" "0" "c.2370C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019554" "00000657" "00" "3875" "0" "3875" "0" "c.3875A>T" "" "p.(Glu1292Val)" "r.(?)" "" "" "" "" "" "-" "0000019554" "00000658" "00" "3857" "0" "3857" "0" "c.3857A>T" "" "p.(Glu1286Val)" "r.(?)" "" "" "" "" "" "-" "0000019554" "00000659" "00" "2504" "0" "2504" "0" "c.2504A>T" "" "p.(Glu835Val)" "r.(?)" "" "" "" "" "" "-" "0000019555" "00000657" "00" "3892" "0" "3892" "0" "c.3892C>T" "" "p.(His1298Tyr)" "r.(?)" "" "" "" "" "" "-" "0000019555" "00000658" "00" "3874" "0" "3874" "0" "c.3874C>T" "" "p.(His1292Tyr)" "r.(?)" "" "" "" "" "" "-" "0000019555" "00000659" "00" "2521" "0" "2521" "0" "c.2521C>T" "" "p.(His841Tyr)" "r.(?)" "" "" "" "" "" "-" "0000019556" "00000657" "00" "3946" "-19" "3946" "-19" "c.3946-19del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019556" "00000658" "00" "3928" "-19" "3928" "-19" "c.3928-19del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019556" "00000659" "00" "2575" "-19" "2575" "-19" "c.2575-19del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019557" "00000657" "00" "3946" "-19" "3946" "-18" "c.3946-19_3946-18del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019557" "00000658" "00" "3928" "-19" "3928" "-18" "c.3928-19_3928-18del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019557" "00000659" "00" "2575" "-19" "2575" "-18" "c.2575-19_2575-18del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019558" "00000657" "00" "3998" "0" "3998" "0" "c.3998G>A" "" "p.(Cys1333Tyr)" "r.(?)" "" "" "" "" "" "-" "0000019558" "00000658" "00" "3980" "0" "3980" "0" "c.3980G>A" "" "p.(Cys1327Tyr)" "r.(?)" "" "" "" "" "" "-" "0000019558" "00000659" "00" "2627" "0" "2627" "0" "c.2627G>A" "" "p.(Cys876Tyr)" "r.(?)" "" "" "" "" "" "-" "0000019559" "00000657" "00" "4086" "0" "4086" "0" "c.4086G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019559" "00000658" "00" "4068" "0" "4068" "0" "c.4068G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019559" "00000659" "00" "2715" "0" "2715" "0" "c.2715G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019560" "00000657" "00" "4144" "0" "4144" "0" "c.4144G>A" "" "p.(Gly1382Ser)" "r.(?)" "" "" "" "" "" "-" "0000019560" "00000658" "00" "4126" "0" "4126" "0" "c.4126G>A" "" "p.(Gly1376Ser)" "r.(?)" "" "" "" "" "" "-" "0000019560" "00000659" "00" "2773" "0" "2773" "0" "c.2773G>A" "" "p.(Gly925Ser)" "r.(?)" "" "" "" "" "" "-" "0000019561" "00000657" "00" "4214" "0" "4214" "0" "c.4214A>C" "" "p.(Asn1405Thr)" "r.(?)" "" "" "" "" "" "-" "0000019561" "00000658" "00" "4196" "0" "4196" "0" "c.4196A>C" "" "p.(Asn1399Thr)" "r.(?)" "" "" "" "" "" "-" "0000019561" "00000659" "00" "2843" "0" "2843" "0" "c.2843A>C" "" "p.(Asn948Thr)" "r.(?)" "" "" "" "" "" "-" "0000019562" "00000657" "00" "4235" "0" "4235" "0" "c.4235C>A" "" "p.(Thr1412Asn)" "r.(?)" "" "" "" "" "" "-" "0000019562" "00000658" "00" "4217" "0" "4217" "0" "c.4217C>A" "" "p.(Thr1406Asn)" "r.(?)" "" "" "" "" "" "-" "0000019562" "00000659" "00" "2864" "0" "2864" "0" "c.2864C>A" "" "p.(Thr955Asn)" "r.(?)" "" "" "" "" "" "-" "0000019563" "00000657" "00" "4270" "0" "4270" "0" "c.4270C>T" "" "p.(Pro1424Ser)" "r.(?)" "" "" "" "" "" "-" "0000019563" "00000658" "00" "4252" "0" "4252" "0" "c.4252C>T" "" "p.(Pro1418Ser)" "r.(?)" "" "" "" "" "" "-" "0000019563" "00000659" "00" "2899" "0" "2899" "0" "c.2899C>T" "" "p.(Pro967Ser)" "r.(?)" "" "" "" "" "" "-" "0000019564" "00000657" "00" "4278" "0" "4278" "0" "c.4278C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019564" "00000658" "00" "4260" "0" "4260" "0" "c.4260C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019564" "00000659" "00" "2907" "0" "2907" "0" "c.2907C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019565" "00000657" "00" "4293" "-10" "4293" "-10" "c.4293-10A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019565" "00000658" "00" "4275" "-10" "4275" "-10" "c.4275-10A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019565" "00000659" "00" "2922" "-10" "2922" "-10" "c.2922-10A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019566" "00000657" "00" "4422" "4" "4422" "4" "c.4422+4T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019566" "00000658" "00" "4404" "4" "4404" "4" "c.4404+4T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019566" "00000659" "00" "3051" "4" "3051" "4" "c.3051+4T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019567" "00000657" "00" "4526" "0" "4526" "0" "c.*5G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019567" "00000658" "00" "4508" "0" "4508" "0" "c.*5G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019567" "00000659" "00" "3155" "0" "3155" "0" "c.*5G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019568" "00000657" "00" "4595" "0" "4595" "0" "c.*74T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019568" "00000658" "00" "4577" "0" "4577" "0" "c.*74T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019568" "00000659" "00" "3224" "0" "3224" "0" "c.*74T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019569" "00000657" "00" "4708" "0" "4708" "0" "c.*187C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019569" "00000658" "00" "4690" "0" "4690" "0" "c.*187C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019569" "00000659" "00" "3337" "0" "3337" "0" "c.*187C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019570" "00000657" "00" "4756" "0" "4756" "0" "c.*235A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019570" "00000658" "00" "4738" "0" "4738" "0" "c.*235A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019570" "00000659" "00" "3385" "0" "3385" "0" "c.*235A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019571" "00000657" "00" "4832" "0" "4832" "0" "c.*311A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019571" "00000658" "00" "4814" "0" "4814" "0" "c.*311A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019571" "00000659" "00" "3461" "0" "3461" "0" "c.*311A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019572" "00000657" "00" "4867" "0" "4867" "0" "c.*346T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019572" "00000658" "00" "4849" "0" "4849" "0" "c.*346T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019572" "00000659" "00" "3496" "0" "3496" "0" "c.*346T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019573" "00000657" "00" "4901" "0" "4901" "0" "c.*380C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019573" "00000658" "00" "4883" "0" "4883" "0" "c.*380C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019573" "00000659" "00" "3530" "0" "3530" "0" "c.*380C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019574" "00000657" "00" "4908" "0" "4908" "0" "c.*387C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019574" "00000658" "00" "4890" "0" "4890" "0" "c.*387C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019574" "00000659" "00" "3537" "0" "3537" "0" "c.*387C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019575" "00000657" "00" "4959" "0" "4959" "0" "c.*438T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019575" "00000658" "00" "4941" "0" "4941" "0" "c.*438T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019575" "00000659" "00" "3588" "0" "3588" "0" "c.*438T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019576" "00000657" "00" "5213" "0" "5213" "0" "c.*692C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019576" "00000658" "00" "5195" "0" "5195" "0" "c.*692C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019576" "00000659" "00" "3842" "0" "3842" "0" "c.*692C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019577" "00000657" "00" "5260" "0" "5260" "0" "c.*739T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019577" "00000658" "00" "5242" "0" "5242" "0" "c.*739T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019577" "00000659" "00" "3889" "0" "3889" "0" "c.*739T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019578" "00000657" "00" "5275" "0" "5275" "0" "c.*754T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019578" "00000658" "00" "5257" "0" "5257" "0" "c.*754T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019578" "00000659" "00" "3904" "0" "3904" "0" "c.*754T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019579" "00000657" "00" "5298" "0" "5298" "0" "c.*777A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019579" "00000658" "00" "5280" "0" "5280" "0" "c.*777A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019579" "00000659" "00" "3927" "0" "3927" "0" "c.*777A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019580" "00000657" "00" "5370" "0" "5370" "0" "c.*849A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019580" "00000658" "00" "5352" "0" "5352" "0" "c.*849A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019580" "00000659" "00" "3999" "0" "3999" "0" "c.*849A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019581" "00000657" "00" "5467" "0" "5467" "0" "c.*946C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019581" "00000658" "00" "5449" "0" "5449" "0" "c.*946C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019581" "00000659" "00" "4096" "0" "4096" "0" "c.*946C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019582" "00000657" "00" "5497" "0" "5497" "0" "c.*976C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019582" "00000658" "00" "5479" "0" "5479" "0" "c.*976C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019582" "00000659" "00" "4126" "0" "4126" "0" "c.*976C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019583" "00000657" "00" "5561" "0" "5561" "0" "c.*1040C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019583" "00000658" "00" "5543" "0" "5543" "0" "c.*1040C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019583" "00000659" "00" "4190" "0" "4190" "0" "c.*1040C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019584" "00000657" "00" "5589" "0" "5589" "0" "c.*1068G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019584" "00000658" "00" "5571" "0" "5571" "0" "c.*1068G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019584" "00000659" "00" "4218" "0" "4218" "0" "c.*1068G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019585" "00000657" "00" "5638" "0" "5638" "0" "c.*1117A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019585" "00000658" "00" "5620" "0" "5620" "0" "c.*1117A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019585" "00000659" "00" "4267" "0" "4267" "0" "c.*1117A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025792" "00000657" "00" "2" "0" "2" "0" "c.2T>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000025793" "00000657" "00" "16" "0" "16" "0" "c.16delinsTTCC" "" "p.(Lys6delinsPheGln)" "r.(?)" "" "" "" "" "" "-" "0000025793" "00000658" "00" "-3" "0" "-3" "0" "c.-3delinsTTCC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025794" "00000657" "00" "21" "0" "21" "0" "c.21G>T" "" "p.(Met7Ile)" "r.(?)" "" "" "" "" "" "-" "0000025794" "00000658" "00" "3" "0" "3" "0" "c.3G>T" "" "p.?" "r.?" "" "" "" "" "" "-" "0000025795" "00000657" "00" "43" "0" "43" "0" "c.43A>T" "" "p.(Lys15*)" "r.(?)" "" "" "" "" "" "-" "0000025795" "00000658" "00" "25" "0" "25" "0" "c.25A>T" "" "p.(Lys9*)" "r.(?)" "" "" "" "" "" "-" "0000025796" "00000657" "00" "144" "1" "144" "1" "c.144+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025796" "00000658" "00" "126" "1" "126" "1" "c.126+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025797" "00000657" "00" "185" "0" "185" "0" "c.185T>G" "" "p.(Met62Arg)" "r.(?)" "" "" "" "" "" "-" "0000025797" "00000658" "00" "167" "0" "167" "0" "c.167T>G" "" "p.(Met56Arg)" "r.(?)" "" "" "" "" "" "-" "0000025798" "00000657" "00" "254" "1" "254" "1" "c.254+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025798" "00000658" "00" "236" "1" "236" "1" "c.236+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025799" "00000657" "00" "277" "0" "277" "0" "c.277C>T" "" "p.(Pro93Ser)" "r.(?)" "" "" "" "" "" "-" "0000025799" "00000658" "00" "259" "0" "259" "0" "c.259C>T" "" "p.(Pro87Ser)" "r.(?)" "" "" "" "" "" "-" "0000025800" "00000657" "00" "319" "0" "319" "0" "c.319del" "" "p.(Ile107Leufs*49)" "r.(?)" "" "" "" "" "" "-" "0000025800" "00000658" "00" "301" "0" "301" "0" "c.301del" "" "p.(Ile101Leufs*49)" "r.(?)" "" "" "" "" "" "-" "0000025801" "00000657" "00" "321" "0" "321" "0" "c.321T>G" "" "p.(Ile107Met)" "r.(?)" "" "" "" "" "" "-" "0000025801" "00000658" "00" "303" "0" "303" "0" "c.303T>G" "" "p.(Ile101Met)" "r.(?)" "" "" "" "" "" "-" "0000025802" "00000657" "00" "538" "0" "538" "0" "c.538C>T" "" "p.(Arg180Trp)" "r.(?)" "" "" "" "" "" "-" "0000025802" "00000658" "00" "520" "0" "520" "0" "c.520C>T" "" "p.(Arg174Trp)" "r.(?)" "" "" "" "" "" "-" "0000025803" "00000657" "00" "546" "0" "546" "0" "c.546G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025803" "00000658" "00" "528" "0" "528" "0" "c.528G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025804" "00000657" "00" "604" "0" "604" "0" "c.604A>G" "" "p.(Asn202Asp)" "r.(?)" "" "" "" "" "" "-" "0000025804" "00000658" "00" "586" "0" "586" "0" "c.586A>G" "" "p.(Asn196Asp)" "r.(?)" "" "" "" "" "" "-" "0000025805" "00000657" "00" "611" "0" "612" "0" "c.611_612del" "" "p.(Asn205Phefs*4)" "r.(?)" "" "" "" "" "" "-" "0000025805" "00000658" "00" "593" "0" "594" "0" "c.593_594del" "" "p.(Asn199Phefs*4)" "r.(?)" "" "" "" "" "" "-" "0000025806" "00000657" "00" "729" "1" "729" "1" "c.729+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025806" "00000658" "00" "711" "1" "711" "1" "c.711+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025807" "00000657" "00" "730" "0" "730" "0" "c.730C>T" "" "p.(Arg244*)" "r.(?)" "" "" "" "" "" "-" "0000025807" "00000658" "00" "712" "0" "712" "0" "c.712C>T" "" "p.(Arg238*)" "r.(?)" "" "" "" "" "" "-" "0000025807" "00000659" "00" "-509" "-3249" "-509" "-3249" "c.-3758C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025808" "00000657" "00" "731" "0" "731" "0" "c.731G>A" "" "p.(Arg244Gln)" "r.(?)" "" "" "" "" "" "-" "0000025808" "00000658" "00" "713" "0" "713" "0" "c.713G>A" "" "p.(Arg238Gln)" "r.(?)" "" "" "" "" "" "-" "0000025808" "00000659" "00" "-509" "-3248" "-509" "-3248" "c.-3757G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025809" "00000657" "00" "748" "0" "748" "0" "c.748del" "" "p.(Leu250*)" "r.(?)" "" "" "" "" "" "-" "0000025809" "00000658" "00" "730" "0" "730" "0" "c.730del" "" "p.(Leu244*)" "r.(?)" "" "" "" "" "" "-" "0000025809" "00000659" "00" "-509" "-3231" "-509" "-3231" "c.-3740del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025810" "00000657" "00" "781" "0" "781" "0" "c.781G>T" "" "p.(Glu261*)" "r.(?)" "" "" "" "" "" "-" "0000025810" "00000658" "00" "763" "0" "763" "0" "c.763G>T" "" "p.(Glu255*)" "r.(?)" "" "" "" "" "" "-" "0000025810" "00000659" "00" "-509" "-3198" "-509" "-3198" "c.-3707G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025811" "00000657" "00" "813" "0" "813" "0" "c.813del" "" "p.(Asn273Thrfs*8)" "r.(?)" "" "" "" "" "" "-" "0000025811" "00000658" "00" "795" "0" "795" "0" "c.795del" "" "p.(Asn267Thrfs*8)" "r.(?)" "" "" "" "" "" "-" "0000025811" "00000659" "00" "-509" "-3166" "-509" "-3166" "c.-3675del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025812" "00000657" "00" "856" "0" "857" "0" "c.856_857insAGGTGC" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025812" "00000658" "00" "838" "0" "839" "0" "c.838_839insAGGTGC" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025812" "00000659" "00" "-509" "-3123" "-509" "-3122" "c.-3632_-3631insAGGTGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025813" "00000657" "00" "920" "0" "920" "0" "c.920G>A" "" "p.(Gly307Glu)" "r.(?)" "" "" "" "" "" "-" "0000025813" "00000658" "00" "902" "0" "902" "0" "c.902G>A" "" "p.(Gly301Glu)" "r.(?)" "" "" "" "" "" "-" "0000025813" "00000659" "00" "-509" "-2494" "-509" "-2494" "c.-3003G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025814" "00000657" "00" "1043" "0" "1045" "0" "c.1043_1045del" "" "p.(Asn349del)" "r.(?)" "" "" "" "" "" "-" "0000025814" "00000658" "00" "1025" "0" "1027" "0" "c.1025_1027del" "" "p.(Asn343del)" "r.(?)" "" "" "" "" "" "-" "0000025814" "00000659" "00" "-509" "-1447" "-509" "-1445" "c.-1956_-1954del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025815" "00000657" "00" "1081" "0" "1081" "0" "c.1081A>G" "" "p.(Asn361Asp)" "r.(?)" "" "" "" "" "" "-" "0000025815" "00000658" "00" "1063" "0" "1063" "0" "c.1063A>G" "" "p.(Asn355Asp)" "r.(?)" "" "" "" "" "" "-" "0000025815" "00000659" "00" "-509" "-1409" "-509" "-1409" "c.-1918A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025816" "00000657" "00" "1104" "1" "1104" "1" "c.1104+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025816" "00000658" "00" "1086" "1" "1086" "1" "c.1086+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025816" "00000659" "00" "-509" "-1385" "-509" "-1385" "c.-1894G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025817" "00000657" "00" "1163" "0" "1163" "0" "c.1163C>T" "" "p.(Pro388Leu)" "r.(?)" "" "" "" "" "" "-" "0000025817" "00000658" "00" "1145" "0" "1145" "0" "c.1145C>T" "" "p.(Pro382Leu)" "r.(?)" "" "" "" "" "" "-" "0000025817" "00000659" "00" "-509" "-418" "-509" "-418" "c.-927C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025818" "00000657" "00" "1205" "0" "1205" "0" "c.1205C>A" "" "p.(Ser402*)" "r.(?)" "" "" "" "" "" "-" "0000025818" "00000658" "00" "1187" "0" "1187" "0" "c.1187C>A" "" "p.(Ser396*)" "r.(?)" "" "" "" "" "" "-" "0000025818" "00000659" "00" "-167" "0" "-167" "0" "c.-167C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025819" "00000657" "00" "1219" "0" "1219" "0" "c.1219G>C" "" "p.(Gly407Arg)" "r.(?)" "" "" "" "" "" "-" "0000025819" "00000658" "00" "1201" "0" "1201" "0" "c.1201G>C" "" "p.(Gly401Arg)" "r.(?)" "" "" "" "" "" "-" "0000025819" "00000659" "00" "-153" "0" "-153" "0" "c.-153G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025820" "00000657" "00" "1281" "5" "1281" "5" "c.1281+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025820" "00000658" "00" "1263" "5" "1263" "5" "c.1263+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025820" "00000659" "00" "-91" "5" "-91" "5" "c.-91+5G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025821" "00000657" "00" "1330" "0" "1330" "0" "c.1330G>C" "" "p.(Ala444Pro)" "r.(?)" "" "" "" "" "" "-" "0000025821" "00000658" "00" "1312" "0" "1312" "0" "c.1312G>C" "" "p.(Ala438Pro)" "r.(?)" "" "" "" "" "" "-" "0000025821" "00000659" "00" "-42" "0" "-42" "0" "c.-42G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025822" "00000657" "00" "1330" "0" "1330" "0" "c.1330G>A" "" "p.(Ala444Thr)" "r.(?)" "" "" "" "" "" "-" "0000025822" "00000658" "00" "1312" "0" "1312" "0" "c.1312G>A" "" "p.(Ala438Thr)" "r.(?)" "" "" "" "" "" "-" "0000025822" "00000659" "00" "-42" "0" "-42" "0" "c.-42G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025823" "00000657" "00" "1338" "0" "1339" "0" "c.1338_1339insT" "" "p.(Asp448*)" "r.(?)" "" "" "" "" "" "-" "0000025823" "00000658" "00" "1320" "0" "1321" "0" "c.1320_1321insT" "" "p.(Asp442*)" "r.(?)" "" "" "" "" "" "-" "0000025823" "00000659" "00" "-34" "0" "-33" "0" "c.-34_-33insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025824" "00000657" "00" "1373" "0" "1373" "0" "c.1373T>C" "" "p.(Met458Thr)" "r.(?)" "" "" "" "" "" "-" "0000025824" "00000658" "00" "1355" "0" "1355" "0" "c.1355T>C" "" "p.(Met452Thr)" "r.(?)" "" "" "" "" "" "-" "0000025824" "00000659" "00" "2" "0" "2" "0" "c.2T>C" "" "p.?" "r.?" "" "" "" "" "" "-" "0000025825" "00000657" "00" "1429" "0" "1430" "0" "c.1429_1430insC" "" "p.(Asn478Glnfs*2)" "r.(?)" "" "" "" "" "" "-" "0000025825" "00000658" "00" "1411" "0" "1412" "0" "c.1411_1412insC" "" "p.(Asn472Glnfs*2)" "r.(?)" "" "" "" "" "" "-" "0000025825" "00000659" "00" "58" "0" "59" "0" "c.58_59insC" "" "p.(Asn21Glnfs*2)" "r.(?)" "" "" "" "" "" "-" "0000025826" "00000657" "00" "1546" "0" "1546" "0" "c.1546del" "" "p.(Gly516Alafs*5)" "r.(?)" "" "" "" "" "" "-" "0000025826" "00000658" "00" "1528" "0" "1528" "0" "c.1528del" "" "p.(Gly510Alafs*5)" "r.(?)" "" "" "" "" "" "-" "0000025826" "00000659" "00" "175" "0" "175" "0" "c.175del" "" "p.(Gly59Alafs*5)" "r.(?)" "" "" "" "" "" "-" "0000025827" "00000657" "00" "1645" "0" "1645" "0" "c.1645G>A" "" "p.(Ala549Thr)" "r.(?)" "" "" "" "" "" "-" "0000025827" "00000658" "00" "1627" "0" "1627" "0" "c.1627G>A" "" "p.(Ala543Thr)" "r.(?)" "" "" "" "" "" "-" "0000025827" "00000659" "00" "274" "0" "274" "0" "c.274G>A" "" "p.(Ala92Thr)" "r.(?)" "" "" "" "" "" "-" "0000025828" "00000657" "00" "1666" "0" "1666" "0" "c.1666T>C" "" "p.(Phe556Leu)" "r.(?)" "" "" "" "" "" "-" "0000025828" "00000658" "00" "1648" "0" "1648" "0" "c.1648T>C" "" "p.(Phe550Leu)" "r.(?)" "" "" "" "" "" "-" "0000025828" "00000659" "00" "295" "0" "295" "0" "c.295T>C" "" "p.(Phe99Leu)" "r.(?)" "" "" "" "" "" "-" "0000025829" "00000657" "00" "1778" "0" "1778" "0" "c.1778G>A" "" "p.(Arg593His)" "r.(?)" "" "" "" "" "" "-" "0000025829" "00000658" "00" "1760" "0" "1760" "0" "c.1760G>A" "" "p.(Arg587His)" "r.(?)" "" "" "" "" "" "-" "0000025829" "00000659" "00" "407" "0" "407" "0" "c.407G>A" "" "p.(Arg136His)" "r.(?)" "" "" "" "" "" "-" "0000025830" "00000657" "00" "1792" "0" "1793" "0" "c.1792_1793insT" "" "p.(Gly600Trpfs*42)" "r.(?)" "" "" "" "" "" "-" "0000025830" "00000658" "00" "1774" "0" "1775" "0" "c.1774_1775insT" "" "p.(Gly594Trpfs*42)" "r.(?)" "" "" "" "" "" "-" "0000025830" "00000659" "00" "421" "0" "422" "0" "c.421_422insT" "" "p.(Gly143Trpfs*42)" "r.(?)" "" "" "" "" "" "-" "0000025831" "00000657" "00" "1855" "-8" "1855" "-8" "c.1855-8A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025831" "00000658" "00" "1837" "-8" "1837" "-8" "c.1837-8A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025831" "00000659" "00" "484" "-8" "484" "-8" "c.484-8A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025832" "00000657" "00" "1882" "0" "1882" "0" "c.1882G>A" "" "p.(Val628Met)" "r.(?)" "" "" "" "" "" "-" "0000025832" "00000658" "00" "1864" "0" "1864" "0" "c.1864G>A" "" "p.(Val622Met)" "r.(?)" "" "" "" "" "" "-" "0000025832" "00000659" "00" "511" "0" "511" "0" "c.511G>A" "" "p.(Val171Met)" "r.(?)" "" "" "" "" "" "-" "0000025833" "00000657" "00" "1913" "0" "1913" "0" "c.1913T>G" "" "p.(Ile638Arg)" "r.(?)" "" "" "" "" "" "-" "0000025833" "00000658" "00" "1895" "0" "1895" "0" "c.1895T>G" "" "p.(Ile632Arg)" "r.(?)" "" "" "" "" "" "-" "0000025833" "00000659" "00" "542" "0" "542" "0" "c.542T>G" "" "p.(Ile181Arg)" "r.(?)" "" "" "" "" "" "-" "0000025834" "00000657" "00" "1944" "0" "1944" "0" "c.1944del" "" "p.(Asp648Glufs*39)" "r.(?)" "" "" "" "" "" "-" "0000025834" "00000658" "00" "1926" "0" "1926" "0" "c.1926del" "" "p.(Asp642Glufs*39)" "r.(?)" "" "" "" "" "" "-" "0000025834" "00000659" "00" "573" "0" "573" "0" "c.573del" "" "p.(Asp191Glufs*39)" "r.(?)" "" "" "" "" "" "-" "0000025835" "00000657" "00" "2000" "-1" "2000" "-1" "c.2000-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025835" "00000658" "00" "1982" "-1" "1982" "-1" "c.1982-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025835" "00000659" "00" "629" "-1" "629" "-1" "c.629-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025836" "00000657" "00" "2166" "0" "2166" "0" "c.2166T>A" "" "p.(Asn722Lys)" "r.(?)" "" "" "" "" "" "-" "0000025836" "00000658" "00" "2148" "0" "2148" "0" "c.2148T>A" "" "p.(Asn716Lys)" "r.(?)" "" "" "" "" "" "-" "0000025836" "00000659" "00" "795" "0" "795" "0" "c.795T>A" "" "p.(Asn265Lys)" "r.(?)" "" "" "" "" "" "-" "0000025837" "00000657" "00" "2179" "0" "2179" "0" "c.2179C>T" "" "p.(Arg727*)" "r.(?)" "" "" "" "" "" "-" "0000025837" "00000658" "00" "2161" "0" "2161" "0" "c.2161C>T" "" "p.(Arg721*)" "r.(?)" "" "" "" "" "" "-" "0000025837" "00000659" "00" "808" "0" "808" "0" "c.808C>T" "" "p.(Arg270*)" "r.(?)" "" "" "" "" "" "-" "0000025838" "00000657" "00" "2211" "-1" "2211" "-1" "c.2211-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025838" "00000658" "00" "2193" "-1" "2193" "-1" "c.2193-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025838" "00000659" "00" "840" "-1" "840" "-1" "c.840-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025839" "00000657" "00" "2243" "0" "2243" "0" "c.2243del" "" "p.(Leu749*)" "r.(?)" "" "" "" "" "" "-" "0000025839" "00000658" "00" "2225" "0" "2225" "0" "c.2225del" "" "p.(Leu743*)" "r.(?)" "" "" "" "" "" "-" "0000025839" "00000659" "00" "872" "0" "872" "0" "c.872del" "" "p.(Leu292*)" "r.(?)" "" "" "" "" "" "-" "0000025840" "00000657" "00" "2409" "1" "2409" "1" "c.2409+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025840" "00000658" "00" "2391" "1" "2391" "1" "c.2391+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025840" "00000659" "00" "1038" "1" "1038" "1" "c.1038+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025841" "00000657" "00" "2410" "-1" "2410" "-1" "c.2410-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025841" "00000658" "00" "2392" "-1" "2392" "-1" "c.2392-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025841" "00000659" "00" "1039" "-1" "1039" "-1" "c.1039-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025842" "00000657" "00" "2433" "0" "2433" "0" "c.2433T>G" "" "p.(Phe811Leu)" "r.(?)" "" "" "" "" "" "-" "0000025842" "00000658" "00" "2415" "0" "2415" "0" "c.2415T>G" "" "p.(Phe805Leu)" "r.(?)" "" "" "" "" "" "-" "0000025842" "00000659" "00" "1062" "0" "1062" "0" "c.1062T>G" "" "p.(Phe354Leu)" "r.(?)" "" "" "" "" "" "-" "0000025843" "00000657" "00" "2447" "0" "2447" "0" "c.2447A>G" "" "p.(Gln816Arg)" "r.(?)" "" "" "" "" "" "-" "0000025843" "00000658" "00" "2429" "0" "2429" "0" "c.2429A>G" "" "p.(Gln810Arg)" "r.(?)" "" "" "" "" "" "-" "0000025843" "00000659" "00" "1076" "0" "1076" "0" "c.1076A>G" "" "p.(Gln359Arg)" "r.(?)" "" "" "" "" "" "-" "0000025844" "00000657" "00" "2458" "0" "2458" "0" "c.2458C>T" "" "p.(Arg820Trp)" "r.(?)" "" "" "" "" "" "-" "0000025844" "00000658" "00" "2440" "0" "2440" "0" "c.2440C>T" "" "p.(Arg814Trp)" "r.(?)" "" "" "" "" "" "-" "0000025844" "00000659" "00" "1087" "0" "1087" "0" "c.1087C>T" "" "p.(Arg363Trp)" "r.(?)" "" "" "" "" "" "-" "0000025845" "00000657" "00" "2464" "0" "2464" "0" "c.2464T>C" "" "p.(Cys822Arg)" "r.(?)" "" "" "" "" "" "-" "0000025845" "00000658" "00" "2446" "0" "2446" "0" "c.2446T>C" "" "p.(Cys816Arg)" "r.(?)" "" "" "" "" "" "-" "0000025845" "00000659" "00" "1093" "0" "1093" "0" "c.1093T>C" "" "p.(Cys365Arg)" "r.(?)" "" "" "" "" "" "-" "0000025846" "00000657" "00" "2555" "0" "2555" "0" "c.2555C>T" "" "p.(Pro852Leu)" "r.(?)" "" "" "" "" "" "-" "0000025846" "00000658" "00" "2537" "0" "2537" "0" "c.2537C>T" "" "p.(Pro846Leu)" "r.(?)" "" "" "" "" "" "-" "0000025846" "00000659" "00" "1184" "0" "1184" "0" "c.1184C>T" "" "p.(Pro395Leu)" "r.(?)" "" "" "" "" "" "-" "0000025847" "00000657" "00" "2597" "0" "2599" "0" "c.2597_2599del" "" "p.(Asn867del)" "r.(?)" "" "" "" "" "" "-" "0000025847" "00000658" "00" "2579" "0" "2581" "0" "c.2579_2581del" "" "p.(Asn861del)" "r.(?)" "" "" "" "" "" "-" "0000025847" "00000659" "00" "1226" "0" "1228" "0" "c.1226_1228del" "" "p.(Asn410del)" "r.(?)" "" "" "" "" "" "-" "0000025848" "00000657" "00" "2750" "0" "2750" "0" "c.2750G>A" "" "p.(Gly917Glu)" "r.(?)" "" "" "" "" "" "-" "0000025848" "00000658" "00" "2732" "0" "2732" "0" "c.2732G>A" "" "p.(Gly911Glu)" "r.(?)" "" "" "" "" "" "-" "0000025848" "00000659" "00" "1379" "0" "1379" "0" "c.1379G>A" "" "p.(Gly460Glu)" "r.(?)" "" "" "" "" "" "-" "0000025849" "00000657" "00" "2756" "0" "2756" "0" "c.2756C>T" "" "p.(Ser919Leu)" "r.(?)" "" "" "" "" "" "-" "0000025849" "00000658" "00" "2738" "0" "2738" "0" "c.2738C>T" "" "p.(Ser913Leu)" "r.(?)" "" "" "" "" "" "-" "0000025849" "00000659" "00" "1385" "0" "1385" "0" "c.1385C>T" "" "p.(Ser462Leu)" "r.(?)" "" "" "" "" "" "-" "0000025850" "00000657" "00" "2758" "0" "2758" "0" "c.2758G>C" "" "p.(Asp920His)" "r.(?)" "" "" "" "" "" "-" "0000025850" "00000658" "00" "2740" "0" "2740" "0" "c.2740G>C" "" "p.(Asp914His)" "r.(?)" "" "" "" "" "" "-" "0000025850" "00000659" "00" "1387" "0" "1387" "0" "c.1387G>C" "" "p.(Asp463His)" "r.(?)" "" "" "" "" "" "-" "0000025851" "00000657" "00" "2827" "0" "2828" "0" "c.2827_2828del" "" "p.(Ile943Profs*5)" "r.(?)" "" "" "" "" "" "-" "0000025851" "00000658" "00" "2809" "0" "2810" "0" "c.2809_2810del" "" "p.(Ile937Profs*5)" "r.(?)" "" "" "" "" "" "-" "0000025851" "00000659" "00" "1456" "0" "1457" "0" "c.1456_1457del" "" "p.(Ile486Profs*5)" "r.(?)" "" "" "" "" "" "-" "0000025852" "00000657" "00" "2828" "0" "2828" "0" "c.2828T>A" "" "p.(Ile943Asn)" "r.(?)" "" "" "" "" "" "-" "0000025852" "00000658" "00" "2810" "0" "2810" "0" "c.2810T>A" "" "p.(Ile937Asn)" "r.(?)" "" "" "" "" "" "-" "0000025852" "00000659" "00" "1457" "0" "1457" "0" "c.1457T>A" "" "p.(Ile486Asn)" "r.(?)" "" "" "" "" "" "-" "0000025853" "00000657" "00" "2927" "0" "2927" "0" "c.2927A>G" "" "p.(Asn976Ser)" "r.(?)" "" "" "" "" "" "-" "0000025853" "00000658" "00" "2909" "0" "2909" "0" "c.2909A>G" "" "p.(Asn970Ser)" "r.(?)" "" "" "" "" "" "-" "0000025853" "00000659" "00" "1556" "0" "1556" "0" "c.1556A>G" "" "p.(Asn519Ser)" "r.(?)" "" "" "" "" "" "-" "0000025854" "00000657" "00" "2962" "0" "2962" "0" "c.2962G>A" "" "p.(Gly988Ser)" "r.(?)" "" "" "" "" "" "-" "0000025854" "00000658" "00" "2944" "0" "2944" "0" "c.2944G>A" "" "p.(Gly982Ser)" "r.(?)" "" "" "" "" "" "-" "0000025854" "00000659" "00" "1591" "0" "1591" "0" "c.1591G>A" "" "p.(Gly531Ser)" "r.(?)" "" "" "" "" "" "-" "0000025855" "00000657" "00" "2963" "0" "2963" "0" "c.2963G>T" "" "p.(Gly988Val)" "r.(?)" "" "" "" "" "" "-" "0000025855" "00000658" "00" "2945" "0" "2945" "0" "c.2945G>T" "" "p.(Gly982Val)" "r.(?)" "" "" "" "" "" "-" "0000025855" "00000659" "00" "1592" "0" "1592" "0" "c.1592G>T" "" "p.(Gly531Val)" "r.(?)" "" "" "" "" "" "-" "0000025856" "00000657" "00" "2975" "0" "2975" "0" "c.2975T>C" "" "p.(Ile992Thr)" "r.(?)" "" "" "" "" "" "-" "0000025856" "00000658" "00" "2957" "0" "2957" "0" "c.2957T>C" "" "p.(Ile986Thr)" "r.(?)" "" "" "" "" "" "-" "0000025856" "00000659" "00" "1604" "0" "1604" "0" "c.1604T>C" "" "p.(Ile535Thr)" "r.(?)" "" "" "" "" "" "-" "0000025857" "00000657" "00" "2977" "0" "2977" "0" "c.2977del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025857" "00000658" "00" "2959" "0" "2959" "0" "c.2959del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025857" "00000659" "00" "1606" "0" "1606" "0" "c.1606del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025858" "00000657" "00" "2977" "0" "2977" "0" "c.2977G>T" "" "p.(Gly993Cys)" "r.(?)" "" "" "" "" "" "-" "0000025858" "00000658" "00" "2959" "0" "2959" "0" "c.2959G>T" "" "p.(Gly987Cys)" "r.(?)" "" "" "" "" "" "-" "0000025858" "00000659" "00" "1606" "0" "1606" "0" "c.1606G>T" "" "p.(Gly536Cys)" "r.(?)" "" "" "" "" "" "-" "0000025859" "00000657" "00" "3011" "0" "3011" "0" "c.3011C>T" "" "p.(Ser1004Phe)" "r.(?)" "" "" "" "" "" "-" "0000025859" "00000658" "00" "2993" "0" "2993" "0" "c.2993C>T" "" "p.(Ser998Phe)" "r.(?)" "" "" "" "" "" "-" "0000025859" "00000659" "00" "1640" "0" "1640" "0" "c.1640C>T" "" "p.(Ser547Phe)" "r.(?)" "" "" "" "" "" "-" "0000025860" "00000657" "00" "3065" "0" "3065" "0" "c.3065A>G" "" "p.(Asn1022Ser)" "r.(?)" "" "" "" "" "" "-" "0000025860" "00000658" "00" "3047" "0" "3047" "0" "c.3047A>G" "" "p.(Asn1016Ser)" "r.(?)" "" "" "" "" "" "-" "0000025860" "00000659" "00" "1694" "0" "1694" "0" "c.1694A>G" "" "p.(Asn565Ser)" "r.(?)" "" "" "" "" "" "-" "0000025861" "00000657" "00" "3087" "0" "3087" "0" "c.3087C>G" "" "p.(Asp1029Glu)" "r.(?)" "" "" "" "" "" "-" "0000025861" "00000658" "00" "3069" "0" "3069" "0" "c.3069C>G" "" "p.(Asp1023Glu)" "r.(?)" "" "" "" "" "" "-" "0000025861" "00000659" "00" "1716" "0" "1716" "0" "c.1716C>G" "" "p.(Asp572Glu)" "r.(?)" "" "" "" "" "" "-" "0000025862" "00000657" "00" "3159" "1" "3159" "1" "c.3159+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025862" "00000658" "00" "3141" "1" "3141" "1" "c.3141+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025862" "00000659" "00" "1788" "1" "1788" "1" "c.1788+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025863" "00000657" "00" "3201" "0" "3201" "0" "c.3201del" "" "p.(Asn1068Thrfs*38)" "r.(?)" "" "" "" "" "" "-" "0000025863" "00000658" "00" "3183" "0" "3183" "0" "c.3183del" "" "p.(Asn1062Thrfs*38)" "r.(?)" "" "" "" "" "" "-" "0000025863" "00000659" "00" "1830" "0" "1830" "0" "c.1830del" "" "p.(Asn611Thrfs*38)" "r.(?)" "" "" "" "" "" "-" "0000025864" "00000657" "00" "3212" "0" "3212" "0" "c.3212C>A" "" "p.(Ala1071Glu)" "r.(?)" "" "" "" "" "" "-" "0000025864" "00000658" "00" "3194" "0" "3194" "0" "c.3194C>A" "" "p.(Ala1065Glu)" "r.(?)" "" "" "" "" "" "-" "0000025864" "00000659" "00" "1841" "0" "1841" "0" "c.1841C>A" "" "p.(Ala614Glu)" "r.(?)" "" "" "" "" "" "-" "0000025865" "00000657" "00" "3283" "0" "3283" "0" "c.3283C>T" "" "p.(Arg1095Cys)" "r.(?)" "" "" "" "" "" "-" "0000025865" "00000658" "00" "3265" "0" "3265" "0" "c.3265C>T" "" "p.(Arg1089Cys)" "r.(?)" "" "" "" "" "" "-" "0000025865" "00000659" "00" "1912" "0" "1912" "0" "c.1912C>T" "" "p.(Arg638Cys)" "r.(?)" "" "" "" "" "" "-" "0000025866" "00000657" "00" "3390" "0" "3390" "0" "c.3390del" "" "p.(Cys1132Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000025866" "00000658" "00" "3372" "0" "3372" "0" "c.3372del" "" "p.(Cys1126Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000025866" "00000659" "00" "2019" "0" "2019" "0" "c.2019del" "" "p.(Cys675Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000025867" "00000657" "00" "3461" "0" "3461" "0" "c.3461T>A" "" "p.(Met1154Lys)" "r.(?)" "" "" "" "" "" "-" "0000025867" "00000658" "00" "3443" "0" "3443" "0" "c.3443T>A" "" "p.(Met1148Lys)" "r.(?)" "" "" "" "" "" "-" "0000025867" "00000659" "00" "2090" "0" "2090" "0" "c.2090T>A" "" "p.(Met697Lys)" "r.(?)" "" "" "" "" "" "-" "0000025868" "00000657" "00" "3574" "0" "3575" "0" "c.3574_3575insGG" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025868" "00000658" "00" "3556" "0" "3557" "0" "c.3556_3557insGG" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025868" "00000659" "00" "2203" "0" "2204" "0" "c.2203_2204insGG" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025869" "00000657" "00" "3576" "1" "3576" "1" "c.3576+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025869" "00000658" "00" "3558" "1" "3558" "1" "c.3558+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025869" "00000659" "00" "2205" "1" "2205" "1" "c.2205+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025870" "00000657" "00" "3577" "-2" "3577" "-2" "c.3577-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025870" "00000658" "00" "3559" "-2" "3559" "-2" "c.3559-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025870" "00000659" "00" "2206" "-2" "2206" "-2" "c.2206-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025871" "00000657" "00" "3701" "0" "3701" "0" "c.3701G>A" "" "p.(Arg1234Gln)" "r.(?)" "" "" "" "" "" "-" "0000025871" "00000658" "00" "3683" "0" "3683" "0" "c.3683G>A" "" "p.(Arg1228Gln)" "r.(?)" "" "" "" "" "" "-" "0000025871" "00000659" "00" "2330" "0" "2330" "0" "c.2330G>A" "" "p.(Arg777Gln)" "r.(?)" "" "" "" "" "" "-" "0000025872" "00000657" "00" "3802" "0" "3802" "0" "c.3802C>T" "" "p.(Arg1268*)" "r.(?)" "" "" "" "" "" "-" "0000025872" "00000658" "00" "3784" "0" "3784" "0" "c.3784C>T" "" "p.(Arg1262*)" "r.(?)" "" "" "" "" "" "-" "0000025872" "00000659" "00" "2431" "0" "2431" "0" "c.2431C>T" "" "p.(Arg811*)" "r.(?)" "" "" "" "" "" "-" "0000025873" "00000657" "00" "3803" "0" "3803" "0" "c.3803G>A" "" "p.(Arg1268Gln)" "r.(?)" "" "" "" "" "" "-" "0000025873" "00000658" "00" "3785" "0" "3785" "0" "c.3785G>A" "" "p.(Arg1262Gln)" "r.(?)" "" "" "" "" "" "-" "0000025873" "00000659" "00" "2432" "0" "2432" "0" "c.2432G>A" "" "p.(Arg811Gln)" "r.(?)" "" "" "" "" "" "-" "0000025874" "00000657" "00" "3970" "0" "3970" "0" "c.3970T>G" "" "p.(Leu1324Val)" "r.(?)" "" "" "" "" "" "-" "0000025874" "00000658" "00" "3952" "0" "3952" "0" "c.3952T>G" "" "p.(Leu1318Val)" "r.(?)" "" "" "" "" "" "-" "0000025874" "00000659" "00" "2599" "0" "2599" "0" "c.2599T>G" "" "p.(Leu867Val)" "r.(?)" "" "" "" "" "" "-" "0000025875" "00000657" "00" "4020" "2" "4020" "2" "c.4020+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025875" "00000658" "00" "4002" "2" "4002" "2" "c.4002+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025875" "00000659" "00" "2649" "2" "2649" "2" "c.2649+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025876" "00000657" "00" "4021" "-2" "4021" "-2" "c.4021-2A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025876" "00000658" "00" "4003" "-2" "4003" "-2" "c.4003-2A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025876" "00000659" "00" "2650" "-2" "2650" "-2" "c.2650-2A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025877" "00000657" "00" "4021" "-1" "4021" "-1" "c.4021-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025877" "00000658" "00" "4003" "-1" "4003" "-1" "c.4003-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025877" "00000659" "00" "2650" "-1" "2650" "-1" "c.2650-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025878" "00000657" "00" "4073" "0" "4073" "0" "c.4073del" "" "p.(Thr1359Glnfs*11)" "r.(?)" "" "" "" "" "" "-" "0000025878" "00000658" "00" "4055" "0" "4055" "0" "c.4055del" "" "p.(Thr1353Glnfs*11)" "r.(?)" "" "" "" "" "" "-" "0000025878" "00000659" "00" "2702" "0" "2702" "0" "c.2702del" "" "p.(Thr902Glnfs*11)" "r.(?)" "" "" "" "" "" "-" "0000025879" "00000657" "00" "4119" "2" "4119" "2" "c.4119+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025879" "00000658" "00" "4101" "2" "4101" "2" "c.4101+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025879" "00000659" "00" "2748" "2" "2748" "2" "c.2748+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025880" "00000657" "00" "4120" "-563" "4120" "-563" "c.4120-563G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025880" "00000658" "00" "4102" "-563" "4102" "-563" "c.4102-563G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025880" "00000659" "00" "2749" "-563" "2749" "-563" "c.2749-563G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025881" "00000657" "00" "4120" "-561" "4120" "-561" "c.4120-561T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025881" "00000658" "00" "4102" "-561" "4102" "-561" "c.4102-561T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025881" "00000659" "00" "2749" "-561" "2749" "-561" "c.2749-561T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025882" "00000657" "00" "4120" "-559" "4120" "-559" "c.4120-559G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025882" "00000658" "00" "4102" "-559" "4102" "-559" "c.4102-559G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025882" "00000659" "00" "2749" "-559" "2749" "-559" "c.2749-559G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025883" "00000657" "00" "4130" "0" "4130" "0" "c.4130G>A" "" "p.(Arg1377Gln)" "r.(?)" "" "" "" "" "" "-" "0000025883" "00000658" "00" "4112" "0" "4112" "0" "c.4112G>A" "" "p.(Arg1371Gln)" "r.(?)" "" "" "" "" "" "-" "0000025883" "00000659" "00" "2759" "0" "2759" "0" "c.2759G>A" "" "p.(Arg920Gln)" "r.(?)" "" "" "" "" "" "-" "0000025884" "00000657" "00" "4190" "0" "4190" "0" "c.4190C>T" "" "p.(Thr1397Met)" "r.(?)" "" "" "" "" "" "-" "0000025884" "00000658" "00" "4172" "0" "4172" "0" "c.4172C>T" "" "p.(Thr1391Met)" "r.(?)" "" "" "" "" "" "-" "0000025884" "00000659" "00" "2819" "0" "2819" "0" "c.2819C>T" "" "p.(Thr940Met)" "r.(?)" "" "" "" "" "" "-" "0000025885" "00000657" "00" "4250" "0" "4250" "0" "c.4250C>T" "" "p.(Pro1417Leu)" "r.(?)" "" "" "" "" "" "-" "0000025885" "00000658" "00" "4232" "0" "4232" "0" "c.4232C>T" "" "p.(Pro1411Leu)" "r.(?)" "" "" "" "" "" "-" "0000025885" "00000659" "00" "2879" "0" "2879" "0" "c.2879C>T" "" "p.(Pro960Leu)" "r.(?)" "" "" "" "" "" "-" "0000025886" "00000657" "00" "4292" "2" "4292" "2" "c.4292+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025886" "00000658" "00" "4274" "2" "4274" "2" "c.4274+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025886" "00000659" "00" "2921" "2" "2921" "2" "c.2921+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025887" "00000657" "00" "4400" "0" "4400" "0" "c.4400T>A" "" "p.(Ile1467Asn)" "r.(?)" "" "" "" "" "" "-" "0000025887" "00000658" "00" "4382" "0" "4382" "0" "c.4382T>A" "" "p.(Ile1461Asn)" "r.(?)" "" "" "" "" "" "-" "0000025887" "00000659" "00" "3029" "0" "3029" "0" "c.3029T>A" "" "p.(Ile1010Asn)" "r.(?)" "" "" "" "" "" "-" "0000025888" "00000657" "00" "4489" "0" "4489" "0" "c.4489T>C" "" "p.(Tyr1497His)" "r.(?)" "" "" "" "" "" "-" "0000025888" "00000658" "00" "4471" "0" "4471" "0" "c.4471T>C" "" "p.(Tyr1491His)" "r.(?)" "" "" "" "" "" "-" "0000025888" "00000659" "00" "3118" "0" "3118" "0" "c.3118T>C" "" "p.(Tyr1040His)" "r.(?)" "" "" "" "" "" "-" "0000025889" "00000657" "00" "4519" "0" "4519" "0" "c.4519T>G" "" "p.(*1507Gluext*13)" "r.(?)" "" "" "" "" "" "-" "0000025889" "00000658" "00" "4501" "0" "4501" "0" "c.4501T>G" "" "p.(*1501Gluext*13)" "r.(?)" "" "" "" "" "" "-" "0000025889" "00000659" "00" "3148" "0" "3148" "0" "c.3148T>G" "" "p.(*1050Gluext*13)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0