### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RB1)
# 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}"
"RB1" "retinoblastoma 1" "13" "q14.2" "unknown" "NG_009009.1" "UD_132084540720" "" "https://www.LOVD.nl/RB1" "" "1" "9884" "5925" "614041" "1" "1" "1" "1" "NOTE:Includes retinoblastoma inducing mutations, innocent variants and all in between.
\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/RB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-26 00:00:00" "00006" "2019-06-28 19:15:40" "00000" "2025-07-08 13:22:38"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00017482" "RB1" "retinoblastoma 1" "001" "NM_000321.2" "" "NP_000312.2" "" "" "" "-166" "4606" "2787" "48877883" "49056026" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00315" "cancer, bladder" "cancer, bladder" "" "109800" "" "" "" "00006" "2014-01-28 14:01:22" "" ""
"01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23"
"01558" "SCLC1" "cancer, lung, small cell (SCLS)" "" "182280" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01989" "OSTEOSARCOMA" "osteosarcoma" "SMu" "259500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}" "{{diseaseid}}"
"RB1" "00315"
"RB1" "01544"
"RB1" "01558"
"RB1" "01989"
## Individuals ## Do not remove or alter this header ##
## Count = 85
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00019836" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" ""
"00100098" "" "" "" "1" "" "01769" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKRD176;61176"
"00104000" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-119A"
"00104018" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-529A"
"00163848" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" ""
"00181225" "" "" "" "1" "" "02570" "" "" "M" "" "Thailand" "" "0" "" "" "" "RB140"
"00181226" "" "" "" "1" "" "02570" "" "" "F" "" "Thailand" "" "0" "" "" "" "RB709"
"00181227" "" "" "" "1" "" "02570" "" "" "M" "" "Thailand" "" "0" "" "" "" "RB339"
"00181228" "" "" "" "1" "" "02570" "" "" "M" "" "Thailand" "" "0" "" "" "" "RB103"
"00181229" "" "" "" "1" "" "02570" "" "" "F" "" "Thailand" "" "0" "" "" "" "RB723"
"00181230" "" "" "" "1" "" "02570" "" "" "F" "" "Thailand" "" "0" "" "" "" "RB380"
"00181231" "" "" "" "1" "" "02570" "" "" "F" "" "Thailand" "" "0" "" "" "" "RB214"
"00269337" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00290937" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290938" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290939" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290940" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295146" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295147" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00307140" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "F" "no" "Brazil" "" "" "" "" "" "Patient 03"
"00307141" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "?" "Brazil" "" "" "" "" "" "Patient 05"
"00307142" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "-" "Brazil" "" "0" "" "" "" "Patient 06"
"00307143" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "?" "Brazil" "" "" "" "" "" "Patient 13"
"00307144" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "F" "" "Brazil" "" "" "" "" "" "Patient16"
"00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21"
"00307248" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 31"
"00307249" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "F" "" "Brazil" "" "" "" "" "" "Patient 32"
"00307250" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 37"
"00307252" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 46"
"00307256" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 60"
"00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62"
"00307258" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "patient with retinoblastoma" "M" "" "Brazil" "" "0" "" "" "" "Patient 64"
"00307259" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "F" "" "Brazil" "" "" "" "" "" "Patient 66"
"00307260" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "F" "" "Brazil" "" "" "" "" "" "Patient 75"
"00307261" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 80"
"00307262" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 86"
"00307263" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "F" "" "Brazil" "" "" "" "" "" "Patient 87"
"00307276" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "F" "" "Brazil" "" "" "" "" "" "Patient 29"
"00328398" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690379"
"00328399" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680501"
"00328400" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680258"
"00363391" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM639"
"00379408" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" ""
"00379409" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" ""
"00379410" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" ""
"00384251" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13165"
"00384300" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13546"
"00384301" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13548"
"00384302" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13549"
"00384303" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13550"
"00384332" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13728"
"00384333" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13729"
"00384347" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13824"
"00384359" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13940"
"00384385" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14147"
"00384386" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14152"
"00384387" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14154"
"00384388" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14160"
"00384389" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14161"
"00384390" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14162"
"00384391" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14165"
"00384392" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14170"
"00384405" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14349"
"00384406" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14351"
"00384407" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14352"
"00384408" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14354"
"00384409" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14355"
"00384426" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14450"
"00384427" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14452"
"00384447" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14574"
"00384456" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14654"
"00384461" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14674"
"00384462" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14677"
"00384468" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14743"
"00384469" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14744"
"00384470" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14745"
"00384471" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14746"
"00384485" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14837"
"00384503" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14956"
"00386499" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "patient" "" "" "Lebanon" "" "0" "" "" "" ""
"00416018" "" "" "" "1" "" "00000" "{PMID:Pedurupillay 2016:27472364}" "parents were first-degree cousins" "" "" "" "" "0" "" "" "Pakistani" "Patient II:1"
"00416019" "" "" "" "1" "" "00000" "{PMID:Pedurupillay 2016:27472364}" "parents were first-degree cousins" "" "" "" "" "0" "" "" "Pakistani" "Patient II:2"
"00430148" "" "" "" "1" "" "01082" "" "" "F" "?" "Brazil" "" "" "" "" "" "MINAS_03"
"00444498" "" "" "" "1" "" "00006" "{PMID:Le Gall 2023:37541786}" "2-generation family, affected father/son" "M" "" "France" "" "0" "" "" "" "Fam"
"00448877" "" "" "" "1" "" "04677" "{PMID:Gregersen 2024:38897371}" "5-generation family, 1 affected, 9 unaffected heterozygous carriers" "M" "no" "Denmark" "" "0" "" "" "" "FamPatV2"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 85
"{{individualid}}" "{{diseaseid}}"
"00019836" "00139"
"00100098" "04214"
"00104000" "03381"
"00104018" "03381"
"00163848" "01544"
"00181225" "01544"
"00181226" "01544"
"00181227" "01544"
"00181228" "01544"
"00181229" "01544"
"00181230" "01544"
"00181231" "01544"
"00269337" "00198"
"00290937" "00198"
"00290938" "00198"
"00290939" "00198"
"00290940" "00198"
"00295146" "00198"
"00295147" "00198"
"00307140" "01544"
"00307141" "01544"
"00307142" "01544"
"00307143" "01544"
"00307144" "01544"
"00307145" "01544"
"00307248" "01544"
"00307249" "01544"
"00307250" "01544"
"00307252" "01544"
"00307256" "01544"
"00307257" "01544"
"00307258" "01544"
"00307259" "01544"
"00307260" "01544"
"00307261" "01544"
"00307262" "01544"
"00307263" "01544"
"00307276" "01544"
"00328398" "04214"
"00328399" "04214"
"00328400" "04214"
"00363391" "04214"
"00379408" "04214"
"00379409" "04214"
"00379410" "04214"
"00384251" "01544"
"00384300" "01544"
"00384301" "01544"
"00384302" "01544"
"00384303" "01544"
"00384332" "01544"
"00384333" "01544"
"00384347" "01544"
"00384359" "01544"
"00384385" "01544"
"00384386" "01544"
"00384387" "01544"
"00384388" "01544"
"00384389" "01544"
"00384390" "01544"
"00384391" "01544"
"00384392" "01544"
"00384405" "01544"
"00384406" "01544"
"00384407" "01544"
"00384408" "01544"
"00384409" "01544"
"00384426" "01544"
"00384427" "01544"
"00384447" "01544"
"00384456" "01544"
"00384461" "01544"
"00384462" "01544"
"00384468" "01544"
"00384469" "01544"
"00384470" "01544"
"00384471" "01544"
"00384485" "01544"
"00384503" "01544"
"00386499" "00198"
"00416018" "04214"
"00416019" "04214"
"00430148" "04296"
"00444498" "01544"
"00448877" "01544"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00315, 01544, 01558, 01989, 03381, 04214, 04296
## Count = 77
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000017726" "00139" "00019836" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000081934" "03381" "00104000" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" ""
"0000081952" "03381" "00104018" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" ""
"0000143411" "01544" "00181225" "02570" "Isolated (sporadic)" "" "HP:0009919, HP:0012683" "" "00y13m" "" "" "" "" "" "" "" "RB-1" "bilateral retinoblastoma" ""
"0000143412" "01544" "00181226" "02570" "Isolated (sporadic)" "" "HP:0009919" "" "00y47m" "HP:0000555" "" "" "" "" "" "" "RB-1" "unilateral retinoblastoma" ""
"0000143414" "01544" "00181227" "02570" "Isolated (sporadic)" "" "HP:0009919" "" "00y02m" "HP:0000555" "" "" "" "" "" "" "RB-1" "bilateral retinoblastoma" ""
"0000143415" "01544" "00181228" "02570" "Isolated (sporadic)" "" "HP:0009919" "" "00y12m" "HP:0000555" "" "" "" "" "" "" "RB-1" "bilateral retinoblastoma" ""
"0000143416" "01544" "00181229" "02570" "Isolated (sporadic)" "" "HP:0009919" "" "00y01m" "" "" "" "" "" "" "" "RB-1" "unilateral retinoblastoma" ""
"0000143417" "01544" "00181230" "02570" "Isolated (sporadic)" "" "HP:0009919" "" "00y04m" "HP:0000555" "" "" "" "" "" "" "RB-1" "bilateral retinoblastoma" ""
"0000143418" "01544" "00181231" "02570" "Isolated (sporadic)" "" "HP:0009919" "" "00y17m" "HP:0000555" "" "" "" "" "" "" "RB-1" "unilateral retinoblastoma" ""
"0000207169" "00198" "00269337" "01164" "Unknown" "" "Retinoblastoma (HP:0009919)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000232944" "01544" "00307140" "03753" "-" "" "Unilateral" "" "00y25m" "HP:0000555" "" "" "" "" "" "" "" "" ""
"0000232945" "01544" "00307141" "03753" "-" "" "Unilateral" "" "00y15m" "HP:0000555" "" "" "" "" "" "" "" "" ""
"0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" "" ""
"0000232948" "01544" "00307143" "03753" "Unknown" "" "Unilateral" "" "00y04m" "HP:0000541" "" "" "" "" "" "" "" "" ""
"0000232949" "01544" "00307144" "03753" "Unknown" "" "Unilateral" "" "00y13m" "HP:0000555" "" "" "" "" "" "" "" "" ""
"0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" "" ""
"0000233053" "01544" "00307248" "03753" "Familial" "" "Bilateral" "" "00y17m" "HP:0000555" "" "" "" "" "" "" "" "" ""
"0000233054" "01544" "00307249" "03753" "Unknown" "" "Unilateral" "" "00y26m" "HP:0000555" "" "" "" "" "" "" "" "" ""
"0000233055" "01544" "00307250" "03753" "Unknown" "" "Unilateral" "" "00y10m" "HP:0000486" "" "" "" "" "" "" "" "" ""
"0000233057" "01544" "00307252" "03753" "Unknown" "" "Unilateral" "" "00y23m" "HP:0000486" "" "" "" "" "" "" "" "" ""
"0000233060" "01544" "00307256" "03753" "Unknown" "" "Unilateral" "" "00y10m" "HP:0000555" "" "" "" "" "" "" "" "" ""
"0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" ""
"0000233062" "01544" "00307258" "03753" "Unknown" "" "Bilateral" "" "00y15m" "HP:0000555" "" "" "" "" "" "" "" "" ""
"0000233063" "01544" "00307259" "03753" "Unknown" "" "Unilateral" "" "00y07m" "HP:0000486" "" "" "" "" "" "" "" "" ""
"0000233064" "01544" "00307260" "03753" "Unknown" "" "Unilateral" "" "00y25m" "HP:0000486" "" "" "" "" "" "" "" "" ""
"0000233065" "01544" "00307261" "03753" "Unknown" "" "Unilateral" "" "00y27m" "HP:0000555" "" "" "" "" "" "" "" "" ""
"0000233066" "01544" "00307262" "03753" "Unknown" "" "Unilateral" "" "00y05m" "HP:0000486" "" "" "" "" "" "" "" "" ""
"0000233067" "01544" "00307263" "03753" "Unknown" "" "Bilateral" "" "00y11m" "HP:0000555" "" "" "" "" "" "" "" "" ""
"0000233077" "01544" "00307276" "03753" "Unknown" "" "Unilateral" "" "00y31m" "HP:0000486, HP:0000555" "" "" "" "" "" "" "" "" ""
"0000246624" "04214" "00328398" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" ""
"0000246625" "04214" "00328399" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" ""
"0000246626" "04214" "00328400" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia" ""
"0000258756" "04214" "00363391" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" ""
"0000273281" "04214" "00379408" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" ""
"0000273282" "04214" "00379409" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" ""
"0000273283" "04214" "00379410" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia (loHM)" ""
"0000278036" "01544" "00384251" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278085" "01544" "00384300" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278086" "01544" "00384301" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278087" "01544" "00384302" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278088" "01544" "00384303" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278117" "01544" "00384332" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278118" "01544" "00384333" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278132" "01544" "00384347" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278144" "01544" "00384359" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278170" "01544" "00384385" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278171" "01544" "00384386" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278172" "01544" "00384387" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278173" "01544" "00384388" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278174" "01544" "00384389" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278175" "01544" "00384390" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278176" "01544" "00384391" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278177" "01544" "00384392" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278190" "01544" "00384405" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278191" "01544" "00384406" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278192" "01544" "00384407" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278193" "01544" "00384408" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278194" "01544" "00384409" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278211" "01544" "00384426" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278212" "01544" "00384427" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278232" "01544" "00384447" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278241" "01544" "00384456" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "Ocular tumor" ""
"0000278246" "01544" "00384461" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278247" "01544" "00384462" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278253" "01544" "00384468" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278254" "01544" "00384469" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278255" "01544" "00384470" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278256" "01544" "00384471" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278270" "01544" "00384485" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinoblastoma" ""
"0000278288" "01544" "00384503" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "Ocular tumor" ""
"0000280305" "00198" "00386499" "00006" "Unknown" "" "bilateral retinoblastoma (oncological)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000307784" "04214" "00416018" "00000" "Familial, autosomal recessive" "15y" "best corrected visual acuity: 6/15, 6/24; refraction: 10.5, -2.5 x 180; -10.5, -2.5 x 160; nystagmus: present; photophobia: absent; goldmann perimetry: normal; fundoscopy: changes in optic disc and peripapillary area; retina: mild myopic changes; macular autofluorescence: mottled; color vision: red-green deficiency: severe, blue-yellow: normal; electroretinogram: rods: normal; cones single flash: weak; cones 30 Hz flicker: weakoptical coherence tomography, inner/outer segment junction: normal, fovea: normal" "" "" "" "" "" "" "" "" "" "incomplete achromatopsia; alopecia" "" ""
"0000307785" "04214" "00416019" "00000" "Familial, autosomal recessive" "10y" "best corrected visual acuity: 6/20, 6/15; refraction: -9.0, -2.0 x 30, -9.5, -2.5 x 160; nystagmus: present transiently; photophobia: absent; goldmann perimetry: not available; fundoscopy: changes in optic disc and peripapillary area, discreet, small disruptions of retinal pigment epithelium in central fovea; retina: mild myopic changes; macular autofluorescence: mottled; color vision: red-green deficiency: moderate, blue-yellow: normal; electroretinogram: rods: normal; cones single flash: weak; cones 30 Hz flicker: weakoptical coherence tomography, inner/outer segment junction: normal, fovea: norma" "" "" "" "" "" "" "" "" "" "incomplete achromatopsia; alopecia" "" ""
"0000321020" "04296" "00430148" "01082" "Familial, autosomal dominant" "" "HP:0009919, HP:0002858, HP:0100243" "00y11m" "00y11m" "" "" "" "" "" "" "" "" "" ""
"0000333751" "01544" "00444498" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "RB1" "retinoblastoma" ""
"0000338052" "01544" "00448877" "04677" "Familial" "" "see paper; ..., unilateral retinoblastoma" "" "" "" "" "" "" "" "" "" "RB1" "retinoblastoma" ""
## Screenings ## Do not remove or alter this header ##
## Count = 85
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000019824" "00019836" "1" "00705" "00705" "2014-09-01 12:08:14" "" "" "SEQ" "DNA" "" ""
"0000100502" "00100098" "1" "01769" "01769" "2017-01-30 18:48:35" "" "" "SEQ" "DNA" "WBC" ""
"0000104471" "00104000" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" ""
"0000104489" "00104018" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" ""
"0000164711" "00163848" "1" "01741" "01741" "2018-04-19 11:55:27" "" "" "SEQ" "DNA" "" ""
"0000182184" "00181226" "1" "02570" "02570" "2018-10-09 05:40:55" "" "" "SEQ" "DNA" "" ""
"0000182185" "00181225" "1" "02570" "02570" "2018-10-09 06:06:02" "00006" "2018-10-09 09:51:13" "SEQ" "DNA" "" ""
"0000182186" "00181227" "1" "02570" "02570" "2018-10-09 06:22:28" "" "" "SEQ" "DNA" "" ""
"0000182187" "00181228" "1" "02570" "02570" "2018-10-09 06:35:14" "" "" "SEQ" "DNA" "" ""
"0000182188" "00181229" "1" "02570" "02570" "2018-10-09 06:57:49" "" "" "SEQ" "DNA" "" ""
"0000182189" "00181230" "1" "02570" "02570" "2018-10-09 08:22:35" "" "" "SEQ" "DNA" "" ""
"0000182192" "00181231" "1" "02570" "02570" "2018-10-09 09:54:23" "" "" "SEQ" "DNA" "" ""
"0000270479" "00269337" "1" "01164" "01164" "2019-11-20 18:18:15" "" "" "SEQ-NG-S" "DNA" "" ""
"0000292105" "00290937" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292106" "00290938" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292107" "00290939" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292108" "00290940" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296314" "00295146" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296315" "00295147" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000308281" "00307140" "1" "03753" "03753" "2020-08-04 05:32:42" "03753" "2020-08-04 06:51:38" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel"
"0000308282" "00307141" "1" "03753" "03753" "2020-08-04 06:50:35" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel"
"0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel"
"0000308285" "00307143" "1" "03753" "03753" "2020-08-04 08:49:46" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel"
"0000308286" "00307144" "1" "03753" "03753" "2020-08-04 20:47:01" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" ""
"0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" ""
"0000308390" "00307248" "1" "03753" "03753" "2020-08-06 01:43:00" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308391" "00307249" "1" "03753" "03753" "2020-08-06 02:10:53" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160genes"
"0000308392" "00307250" "1" "03753" "03753" "2020-08-06 02:16:26" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308394" "00307252" "1" "03753" "03753" "2020-08-06 02:26:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308398" "00307256" "1" "03753" "03753" "2020-08-06 23:02:03" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308400" "00307258" "1" "03753" "03753" "2020-08-07 03:26:45" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308401" "00307259" "1" "03753" "03753" "2020-08-07 03:41:08" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308402" "00307260" "1" "03753" "03753" "2020-08-07 03:50:40" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308403" "00307261" "1" "03753" "03753" "2020-08-07 04:01:20" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308404" "00307262" "1" "03753" "03753" "2020-08-07 04:11:37" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308405" "00307263" "1" "03753" "03753" "2020-08-07 04:21:45" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tissue" "160 genes"
"0000308418" "00307276" "1" "03753" "03753" "2020-08-07 22:47:00" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000329612" "00328398" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES"
"0000329613" "00328399" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES"
"0000329614" "00328400" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES"
"0000364619" "00363391" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000380608" "00379408" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES"
"0000380609" "00379409" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES"
"0000380610" "00379410" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES"
"0000385476" "00384251" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385525" "00384300" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385526" "00384301" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385527" "00384302" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385528" "00384303" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385557" "00384332" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385558" "00384333" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385572" "00384347" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385584" "00384359" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385610" "00384385" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385611" "00384386" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385612" "00384387" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385613" "00384388" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385614" "00384389" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385615" "00384390" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385616" "00384391" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385617" "00384392" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385630" "00384405" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385631" "00384406" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385632" "00384407" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385633" "00384408" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385634" "00384409" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385651" "00384426" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385652" "00384427" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385672" "00384447" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385681" "00384456" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385686" "00384461" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385687" "00384462" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385693" "00384468" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385694" "00384469" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385695" "00384470" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385696" "00384471" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385710" "00384485" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385728" "00384503" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000387726" "00386499" "1" "00006" "00006" "2021-10-22 17:45:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000417298" "00416018" "1" "00000" "03840" "2022-08-22 09:29:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing"
"0000417299" "00416019" "1" "00000" "03840" "2022-08-22 09:29:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing"
"0000431561" "00430148" "1" "01082" "01082" "2023-01-11 19:18:43" "" "" "SEQ-NG" "DNA" "" ""
"0000446066" "00444498" "1" "00006" "00006" "2023-12-24 12:02:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000450468" "00448877" "1" "04677" "04677" "2024-04-19 15:00:26" "" "" "SEQ-NG" "DNA" "EDTA and tumor tissue" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 61
"{{screeningid}}" "{{geneid}}"
"0000019824" "RB1"
"0000100502" "FAM161A"
"0000164711" "RB1"
"0000182184" "RB1"
"0000182185" "RB1"
"0000182186" "RB1"
"0000182187" "RB1"
"0000182188" "RB1"
"0000182189" "RB1"
"0000182192" "RB1"
"0000308286" "RB1"
"0000308287" "RB1"
"0000308391" "RB1"
"0000308394" "RB1"
"0000308403" "RB1"
"0000308418" "RB1"
"0000329612" "RB1"
"0000329613" "RB1"
"0000329614" "RB1"
"0000364619" "RB1"
"0000380608" "RB1"
"0000380609" "RB1"
"0000380610" "RB1"
"0000385476" "RB1"
"0000385525" "RB1"
"0000385526" "RB1"
"0000385527" "RB1"
"0000385528" "RB1"
"0000385557" "RB1"
"0000385558" "RB1"
"0000385572" "RB1"
"0000385584" "RB1"
"0000385610" "RB1"
"0000385611" "RB1"
"0000385612" "RB1"
"0000385613" "RB1"
"0000385614" "RB1"
"0000385615" "RB1"
"0000385616" "RB1"
"0000385617" "RB1"
"0000385630" "RB1"
"0000385631" "RB1"
"0000385632" "RB1"
"0000385633" "RB1"
"0000385634" "RB1"
"0000385651" "RB1"
"0000385652" "RB1"
"0000385672" "RB1"
"0000385681" "RB1"
"0000385686" "RB1"
"0000385687" "RB1"
"0000385693" "RB1"
"0000385694" "RB1"
"0000385695" "RB1"
"0000385696" "RB1"
"0000385710" "RB1"
"0000385728" "RB1"
"0000417298" "PDE6H"
"0000417299" "PDE6H"
"0000446066" "RB1"
"0000450468" "RB1"
## 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 = 1914
"{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}"
"0000040272" "0" "30" "13" "48921977" "48921977" "subst" "0" "00705" "RB1_002151" "g.48921977T>C" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "?" "" "0" "" "" "g.48347841T>C" "" "likely benign" ""
"0000169293" "0" "70" "13" "49039408" "49039408" "subst" "5.27957E-5" "00587" "RB1_002153" "g.49039408G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000321.2(RB1):c.2393G>A p.(Arg798Gln)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.48465272G>A" "" "likely pathogenic" ""
"0000169357" "0" "70" "13" "49033845" "49033845" "subst" "4.07024E-6" "00587" "RB1_002152" "g.49033845G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000321.2(RB1):c.1982G>A p.(Arg661Gln)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.48459709G>A" "" "likely pathogenic" ""
"0000249614" "0" "70" "13" "48954381" "48954381" "subst" "0" "02325" "RB1_002159" "g.48954381A>G" "" "" "" "RB1(NM_000321.3):c.1498+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48380245A>G" "" "likely pathogenic" ""
"0000249671" "0" "90" "13" "48951169" "48951169" "subst" "0" "02325" "RB1_000280" "g.48951169A>G" "" "" "" "RB1(NM_000321.3):c.1331A>G (p.Q444R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48377033A>G" "" "pathogenic" ""
"0000250120" "0" "10" "13" "49039478" "49039478" "subst" "4.46955E-5" "02329" "RB1_002134" "g.49039478A>G" "" "" "" "RB1(NM_000321.3):c.2463A>G (p.T821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48465342A>G" "" "benign" ""
"0000250229" "0" "10" "13" "48954178" "48954178" "subst" "0.000637675" "02329" "RB1_002156" "g.48954178A>G" "" "" "" "RB1(NM_000321.3):c.1390-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48380042A>G" "" "benign" ""
"0000250314" "0" "30" "13" "49027140" "49027140" "subst" "0.000639662" "02329" "RB1_002120" "g.49027140A>G" "" "" "" "RB1(NM_000321.3):c.1707A>G (p.L569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48453004A>G" "" "likely benign" ""
"0000254957" "0" "30" "13" "49039211" "49039211" "subst" "4.06131E-6" "01943" "RB1_002133" "g.49039211A>T" "" "" "" "RB1(NM_000321.2):c.2289A>T (p.R763S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48465075A>T" "" "likely benign" ""
"0000297576" "0" "90" "13" "48947629" "48947629" "subst" "0" "02325" "RB1_000011" "g.48947629G>A" "" "" "" "RB1(NM_000321.3):c.1215+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48373493G>A" "" "pathogenic" ""
"0000297577" "0" "90" "13" "48881452" "48881453" "del" "0" "02325" "RB1_001965" "g.48881452_48881453del" "" "" "" "RB1(NM_000321.3):c.174_175delTG (p.A59Ifs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48307316_48307317del" "" "pathogenic" ""
"0000297578" "0" "10" "13" "49051481" "49051481" "subst" "0.238016" "02325" "RB1_002135" "g.49051481T>A" "" "" "" "RB1(NM_000321.3):c.2664-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48477345T>A" "" "benign" ""
"0000299252" "0" "30" "13" "48954293" "48954293" "del" "0" "02329" "RB1_002158" "g.48954293del" "" "" "" "RB1(NM_000321.3):c.1422-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48380157del" "" "likely benign" ""
"0000299253" "0" "30" "13" "49033812" "49033812" "subst" "0.0012467" "02329" "RB1_002123" "g.49033812T>C" "" "" "" "RB1(NM_000321.3):c.1961-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48459676T>C" "" "likely benign" ""
"0000299254" "0" "30" "13" "49033829" "49033829" "subst" "0.000662058" "02329" "RB1_002124" "g.49033829C>T" "" "" "" "RB1(NM_000321.2):c.1966C>T (p.R656W), RB1(NM_000321.3):c.1966C>T (p.R656W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48459693C>T" "" "likely benign" ""
"0000299255" "0" "10" "13" "49039122" "49039122" "subst" "0.0772264" "02329" "RB1_002129" "g.49039122G>T" "" "" "" "RB1(NM_000321.3):c.2212-12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48464986G>T" "" "benign" ""
"0000299257" "0" "30" "13" "49039120" "49039120" "subst" "0.0616951" "02329" "RB1_002128" "g.49039120C>T" "" "" "" "RB1(NM_000321.3):c.2212-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48464984C>T" "" "likely benign" ""
"0000299258" "0" "30" "13" "49039119" "49039120" "del" "0.0380926" "02329" "RB1_002126" "g.49039119_49039120del" "" "" "" "RB1(NM_000321.3):c.2212-15_2212-14delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48464983_48464984del" "" "likely benign" ""
"0000299259" "0" "30" "13" "49039125" "49039125" "subst" "0" "02329" "RB1_002130" "g.49039125C>T" "" "" "" "RB1(NM_000321.3):c.2212-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48464989C>T" "" "likely benign" ""
"0000299260" "0" "30" "13" "48881537" "48881537" "subst" "3.25153E-5" "02329" "RB1_002139" "g.48881537G>A" "" "" "" "RB1(NM_000321.3):c.259G>A (p.V87I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48307401G>A" "" "likely benign" ""
"0000299261" "0" "10" "13" "48916860" "48916860" "subst" "0.00175421" "02329" "RB1_001006" "g.48916860C>G" "" "" "" "RB1(NM_000321.2):c.380+10C>G, RB1(NM_000321.3):c.380+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48342724C>G" "" "benign" ""
"0000299262" "0" "10" "13" "48916862" "48916862" "subst" "0.00260376" "02329" "RB1_001007" "g.48916862T>C" "" "" "" "RB1(NM_000321.3):c.380+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48342726T>C" "" "benign" ""
"0000299263" "0" "30" "13" "48878090" "48878090" "subst" "0.00147484" "02329" "RB1_000023" "g.48878090C>T" "" "" "" "RB1(NM_000321.2):c.42C>T (p.A14=), RB1(NM_000321.3):c.42C>T (p.A14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48303954C>T" "" "likely benign" ""
"0000299264" "0" "30" "13" "48939097" "48939097" "subst" "0.000365021" "02329" "RB1_000070" "g.48939097G>A" "" "" "" "RB1(NM_000321.3):c.929G>A (p.G310E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48364961G>A" "" "likely benign" ""
"0000306782" "0" "30" "13" "49030386" "49030386" "subst" "9.74675E-5" "01943" "RB1_002121" "g.49030386C>T" "" "" "" "RB1(NM_000321.2):c.1861C>T (p.R621C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48456250C>T" "" "likely benign" ""
"0000306783" "0" "50" "13" "49030387" "49030387" "subst" "6.09201E-5" "01943" "RB1_002122" "g.49030387G>A" "" "" "" "RB1(NM_000321.2):c.1862G>A (p.R621H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48456251G>A" "" "VUS" ""
"0000368271" "21" "90" "13" "48878082" "48878122" "del" "0" "01741" "RB1_002136" "g.48878082_48878122del" "" "" "" "34_74del41" "" "Germline" "" "" "0" "" "" "g.48303946_48303986del" "" "pathogenic" ""
"0000406061" "0" "90" "13" "48878140" "48878141" "del" "0" "02570" "RB1_002145" "g.48878140_48878141del" "" "" "" "g.2151_2152 del" "" "Germline" "" "" "0" "" "" "g.48304004_48304005del" "" "pathogenic" ""
"0000406062" "0" "90" "13" "49027175" "49027175" "del" "0" "02570" "RB1_002146" "g.49027175del" "" "" "" "g.150044 del" "" "Germline" "" "" "0" "" "" "g.48453039del" "" "pathogenic" ""
"0000406063" "0" "90" "13" "48954197" "48954197" "del" "0" "02570" "RB1_002150" "g.48954197del" "" "" "" "1397del" "" "Germline" "" "" "0" "" "" "g.48380061del" "" "pathogenic" ""
"0000406064" "0" "90" "13" "48878131" "48878131" "subst" "1.08743E-5" "02570" "RB1_002147" "g.48878131C>G" "" "" "" "g.2142 C>G" "" "Germline" "" "" "0" "" "" "g.48303995C>G" "" "pathogenic" ""
"0000406065" "0" "90" "13" "49033835" "49033835" "subst" "0" "02570" "RB1_002148" "g.49033835G>C" "" "" "" "g.156704 G>C" "" "Germline" "" "" "0" "" "" "g.48459699G>C" "" "pathogenic" ""
"0000406068" "0" "90" "13" "49033823" "49033823" "subst" "0" "02570" "RB1_002144" "g.49033823G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48459687G>C" "" "pathogenic" ""
"0000406069" "0" "90" "13" "48877814" "48877814" "subst" "0" "02570" "RB1_002143" "g.48877814G>A" "" "" "" "g.1825 G>A" "" "Germline" "" "" "0" "" "" "g.48303678G>A" "" "pathogenic" ""
"0000484828" "0" "99" "13" "49047503" "49047503" "del" "0" "03316" "RB1_000001" "g.49047503del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473367del" "" "pathogenic" ""
"0000484829" "0" "55" "13" "49030487" "49030487" "subst" "0" "03316" "RB1_000002" "g.49030487T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456351T>C" "" "VUS" ""
"0000484830" "0" "99" "13" "48953730" "48953730" "subst" "4.0935E-6" "03316" "RB1_000003" "g.48953730C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379594C>T" "" "pathogenic" ""
"0000484831" "0" "55" "13" "49027133" "49027133" "subst" "0" "03316" "RB1_000004" "g.49027133C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48452997C>T" "" "VUS" ""
"0000484832" "0" "99" "13" "49039374" "49039374" "subst" "0" "03316" "RB1_000005" "g.49039374C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465238C>T" "" "pathogenic" ""
"0000484833" "0" "99" "13" "49039166" "49039166" "del" "0" "03316" "RB1_000006" "g.49039166del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465030del" "" "pathogenic" ""
"0000484834" "0" "55" "13" "48941740" "48941740" "subst" "0" "03316" "RB1_000007" "g.48941740G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367604G>T" "" "VUS" ""
"0000484835" "0" "55" "13" "48942685" "48942685" "subst" "0" "03316" "RB1_000008" "g.48942685C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368549C>T" "" "VUS" ""
"0000484836" "0" "55" "13" "49037865" "49037865" "subst" "0" "03316" "RB1_000009" "g.49037865A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463729A>G" "" "VUS" ""
"0000484837" "0" "99" "13" "49039164" "49039164" "subst" "0" "03316" "RB1_000010" "g.49039164G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465028G>T" "" "pathogenic" ""
"0000484838" "0" "55" "13" "48947629" "48947629" "subst" "0" "03316" "RB1_000011" "g.48947629G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373493G>A" "" "VUS" ""
"0000484839" "0" "99" "13" "49027169" "49027178" "del" "0" "03316" "RB1_000014" "g.49027169_49027178del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453033_48453042del" "" "pathogenic" ""
"0000484840" "0" "99" "13" "49030474" "49030482" "del" "0" "03316" "RB1_000016" "g.49030474_49030482del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456338_48456346del" "" "pathogenic" ""
"0000484841" "0" "55" "13" "48877860" "48877860" "subst" "0" "03316" "RB1_000017" "g.48877860G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303724G>T" "" "VUS" ""
"0000484842" "0" "55" "13" "48877851" "48877851" "subst" "0" "03316" "RB1_000018" "g.48877851G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303715G>A" "" "VUS" ""
"0000484843" "0" "55" "13" "49033844" "49033844" "subst" "1.62678E-5" "03316" "RB1_000019" "g.49033844C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459708C>T" "" "VUS" ""
"0000484844" "0" "99" "13" "49033886" "49033886" "subst" "0" "03316" "RB1_000020" "g.49033886G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459750G>T" "" "pathogenic" ""
"0000484845" "0" "55" "13" "49037971" "49037971" "subst" "0" "03316" "RB1_000021" "g.49037971G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463835G>A" "" "VUS" ""
"0000484846" "0" "55" "13" "48877899" "48877899" "subst" "0" "03316" "RB1_000022" "g.48877899G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303763G>C" "" "VUS" ""
"0000484847" "0" "55" "13" "48878090" "48878090" "subst" "0.00147484" "03316" "RB1_000023" "g.48878090C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303954C>T" "" "VUS" ""
"0000484848" "0" "99" "13" "48878120" "48878126" "del" "0" "03316" "RB1_000024" "g.48878120_48878126del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303984_48303990del" "" "pathogenic" ""
"0000484849" "0" "99" "13" "48878136" "48878136" "subst" "0" "03316" "RB1_000025" "g.48878136G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48304000G>T" "" "pathogenic" ""
"0000484850" "0" "99" "13" "48916841" "48916842" "del" "0" "03316" "RB1_000026" "g.48916841_48916842del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342705_48342706del" "" "pathogenic" ""
"0000484851" "0" "99" "13" "48881462" "48881462" "subst" "0" "03316" "RB1_000027" "g.48881462C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307326C>T" "" "pathogenic" ""
"0000484852" "0" "99" "13" "48881472" "48881472" "dup" "0" "03316" "RB1_000028" "g.48881472dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307336dup" "" "pathogenic" ""
"0000484853" "0" "99" "13" "48881473" "48881474" "del" "0" "03316" "RB1_000029" "g.48881473_48881474del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307337_48307338del" "" "pathogenic" ""
"0000484854" "0" "99" "13" "48881481" "48881481" "del" "0" "03316" "RB1_000030" "g.48881481del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307345del" "" "pathogenic" ""
"0000484855" "0" "99" "13" "48881487" "48881488" "del" "0" "03316" "RB1_000031" "g.48881487_48881488del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307351_48307352del" "" "pathogenic" ""
"0000484856" "0" "99" "13" "48881488" "48881489" "ins" "0" "03316" "RB1_000032" "g.48881488_48881489insG" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307352_48307353insG" "" "pathogenic" ""
"0000484857" "0" "55" "13" "48881492" "48881492" "subst" "0" "03316" "RB1_000033" "g.48881492G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307356G>C" "" "VUS" ""
"0000484858" "0" "99" "13" "48881503" "48881503" "del" "0" "03316" "RB1_000034" "g.48881503del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307367del" "" "pathogenic" ""
"0000484859" "0" "99" "13" "48881507" "48881507" "del" "0" "03316" "RB1_000035" "g.48881507del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307371del" "" "pathogenic" ""
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"0000484943" "0" "99" "13" "48955543" "48955543" "subst" "0" "03316" "RB1_000122" "g.48955543T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381407T>A" "" "pathogenic" ""
"0000484944" "0" "99" "13" "48955544" "48955544" "subst" "0" "03316" "RB1_000123" "g.48955544G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381408G>T" "" "pathogenic" ""
"0000484945" "0" "99" "13" "48955550" "48955550" "subst" "0" "03316" "RB1_000124" "g.48955550C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381414C>T" "" "pathogenic" ""
"0000484946" "0" "55" "13" "49027137" "49027139" "del" "0" "03316" "RB1_000125" "g.49027137_49027139del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453001_48453003del" "" "VUS" ""
"0000484947" "0" "99" "13" "49027140" "49027140" "del" "0" "03316" "RB1_000126" "g.49027140del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453004del" "" "pathogenic" ""
"0000484948" "0" "99" "13" "49027159" "49027162" "del" "0" "03316" "RB1_000127" "g.49027159_49027162del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453023_48453026del" "" "pathogenic" ""
"0000484949" "0" "99" "13" "49027156" "49027156" "subst" "0" "03316" "RB1_000128" "g.49027156C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453020C>T" "" "pathogenic" ""
"0000484950" "0" "99" "13" "49027168" "49027168" "subst" "0" "03316" "RB1_000129" "g.49027168C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453032C>T" "" "pathogenic" ""
"0000484951" "0" "99" "13" "49027165" "49027171" "dup" "0" "03316" "RB1_000130" "g.49027165_49027171dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453029_48453035dup" "" "pathogenic" ""
"0000484952" "0" "99" "13" "49027171" "49027171" "subst" "0" "03316" "RB1_000131" "g.49027171G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453035G>T" "" "pathogenic" ""
"0000484953" "0" "99" "13" "49027193" "49027202" "del" "0" "03316" "RB1_000132" "g.49027193_49027202del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453057_48453066del" "" "pathogenic" ""
"0000484954" "0" "99" "13" "49027243" "49027244" "dup" "0" "03316" "RB1_000134" "g.49027243_49027244dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453107_48453108dup" "" "pathogenic" ""
"0000484955" "0" "99" "13" "49030341" "49030341" "dup" "0" "03316" "RB1_000135" "g.49030341dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456205dup" "" "pathogenic" ""
"0000484956" "0" "99" "13" "49030353" "49030354" "del" "0" "03316" "RB1_000136" "g.49030353_49030354del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456217_48456218del" "" "pathogenic" ""
"0000484957" "0" "99" "13" "49030386" "49030387" "del" "0" "03316" "RB1_000137" "g.49030386_49030387del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456250_48456251del" "" "pathogenic" ""
"0000484958" "0" "99" "13" "49030412" "49030413" "del" "0" "03316" "RB1_000138" "g.49030412_49030413del" "" "{DB-RB1}" "" "1884_1885del" "" "SUMMARY record" "" "" "0" "" "" "g.48456276_48456277del" "" "pathogenic" ""
"0000484959" "0" "99" "13" "49030416" "49030416" "subst" "0" "03316" "RB1_000139" "g.49030416C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456280C>T" "" "pathogenic" ""
"0000484960" "0" "99" "13" "49030417" "49030418" "ins" "0" "03316" "RB1_000140" "g.49030417_49030418ins49030385_49030416" "" "{DB-RB1}" "" "" "Variant Error [ESYNTAX]: This genomic variant has an error (char 35: Syntax error). Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" ""
"0000484961" "0" "99" "13" "49030426" "49030426" "subst" "0" "03316" "RB1_000141" "g.49030426C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456290C>G" "" "pathogenic" ""
"0000484962" "0" "55" "13" "49030428" "49030428" "subst" "0" "03316" "RB1_000142" "g.49030428G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456292G>C" "" "VUS" ""
"0000484963" "0" "99" "13" "49030440" "49030440" "subst" "0" "03316" "RB1_000143" "g.49030440C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456304C>T" "" "pathogenic" ""
"0000484964" "0" "99" "13" "49030462" "49030462" "del" "0" "03316" "RB1_000144" "g.49030462del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456326del" "" "pathogenic" ""
"0000484965" "0" "55" "13" "49030464" "49030465" "del" "0" "03316" "RB1_000145" "g.49030464_49030465del" "" "{DB-RB1}" "" "1935_1936del" "" "SUMMARY record" "" "" "0" "" "" "g.48456328_48456329del" "" "VUS" ""
"0000484966" "0" "99" "13" "49030470" "49030474" "del" "0" "03316" "RB1_000146" "g.49030470_49030474del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456334_48456338del" "" "pathogenic" ""
"0000484967" "0" "55" "13" "49033824" "49033824" "subst" "0" "03316" "RB1_000147" "g.49033824T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459688T>A" "" "VUS" ""
"0000484968" "0" "55" "13" "49033844" "49033847" "del" "0" "03316" "RB1_000148" "g.49033844_49033847del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459708_48459711del" "" "VUS" ""
"0000484969" "0" "55" "13" "49033848" "49033848" "subst" "0" "03316" "RB1_000149" "g.49033848T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459712T>C" "" "VUS" ""
"0000484970" "0" "99" "13" "49033876" "49033876" "dup" "0" "03316" "RB1_000150" "g.49033876dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459740dup" "" "pathogenic" ""
"0000484971" "0" "55" "13" "49033881" "49033881" "subst" "0" "03316" "RB1_000151" "g.49033881A>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459745A>C" "" "VUS" ""
"0000484972" "0" "99" "13" "49033891" "49033903" "del" "0" "03316" "RB1_000152" "g.49033891_49033903del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459755_48459767del" "" "pathogenic" ""
"0000484973" "0" "55" "13" "49033914" "49033914" "del" "0" "03316" "RB1_000153" "g.49033914del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459778del" "" "VUS" ""
"0000484974" "0" "99" "13" "49033902" "49033917" "dup" "0" "03316" "RB1_000154" "g.49033902_49033917dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459766_48459781dup" "" "pathogenic" ""
"0000484975" "0" "55" "13" "49033917" "49033917" "subst" "0" "03316" "RB1_000155" "g.49033917A>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459781A>C" "" "VUS" ""
"0000484976" "0" "99" "13" "49033928" "49033929" "ins" "0" "03316" "RB1_000156" "g.49033928_49033929insN[100]" "" "{DB-RB1}" "" "2065_2066ins100" "" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" ""
"0000484977" "0" "99" "13" "49033947" "49033947" "del" "0" "03316" "RB1_000157" "g.49033947del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459811del" "" "pathogenic" ""
"0000484978" "0" "99" "13" "49033951" "49033951" "del" "0" "03316" "RB1_000158" "g.49033951del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459815del" "" "pathogenic" ""
"0000484979" "0" "55" "13" "49037877" "49037877" "subst" "0" "03316" "RB1_000159" "g.49037877G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463741G>A" "" "VUS" ""
"0000484980" "0" "55" "13" "49037894" "49037894" "subst" "0" "03316" "RB1_000160" "g.49037894T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463758T>C" "" "VUS" ""
"0000484981" "0" "99" "13" "49037903" "49037903" "subst" "0" "03316" "RB1_000161" "g.49037903A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463767A>T" "" "pathogenic" ""
"0000484982" "0" "99" "13" "49037908" "49037908" "dup" "0" "03316" "RB1_000162" "g.49037908dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463772dup" "" "pathogenic" ""
"0000484983" "0" "99" "13" "49037918" "49037918" "subst" "0" "03316" "RB1_000163" "g.49037918A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463782A>T" "" "pathogenic" ""
"0000484984" "0" "99" "13" "49037936" "49037936" "del" "0" "03316" "RB1_000164" "g.49037936del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463800del" "" "pathogenic" ""
"0000484985" "0" "99" "13" "49037944" "49037944" "subst" "0" "03316" "RB1_000165" "g.49037944C>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463808C>A" "" "pathogenic" ""
"0000484986" "0" "99" "13" "49037956" "49037956" "del" "0" "03316" "RB1_000166" "g.49037956del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463820del" "" "pathogenic" ""
"0000484987" "0" "99" "13" "49037960" "49037960" "dup" "0" "03316" "RB1_000167" "g.49037960dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463824dup" "" "pathogenic" ""
"0000484988" "0" "99" "13" "49039166" "49039167" "ins" "0" "03316" "RB1_000168" "g.49039166_49039167insATAGAATC" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465030_48465031insATAGAATC" "" "pathogenic" ""
"0000484989" "0" "55" "13" "49039186" "49039188" "del" "0" "03316" "RB1_000169" "g.49039186_49039188del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465050_48465052del" "" "VUS" ""
"0000484990" "0" "99" "13" "49039229" "49039230" "delins" "0" "03316" "RB1_000170" "g.49039229_49039230delinsTT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465093_48465094delinsTT" "" "pathogenic" ""
"0000484991" "0" "99" "13" "49039233" "49039233" "dup" "0" "03316" "RB1_000171" "g.49039233dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465097dup" "" "pathogenic" ""
"0000484992" "0" "99" "13" "49039345" "49039345" "del" "0" "03316" "RB1_000172" "g.49039345del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465209del" "" "pathogenic" ""
"0000484993" "0" "99" "13" "49039362" "49039368" "del" "0" "03316" "RB1_000173" "g.49039362_49039368del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465226_48465232del" "" "pathogenic" ""
"0000484994" "0" "55" "13" "49039378" "49039378" "subst" "0" "03316" "RB1_000174" "g.49039378G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465242G>C" "" "VUS" ""
"0000484995" "0" "99" "13" "49039391" "49039391" "del" "0" "03316" "RB1_000175" "g.49039391del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465255del" "" "pathogenic" ""
"0000484996" "0" "99" "13" "49039395" "49039404" "del" "0" "03316" "RB1_000176" "g.49039395_49039404del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465259_48465268del" "" "pathogenic" ""
"0000484997" "0" "99" "13" "49039401" "49039410" "del" "0" "03316" "RB1_000177" "g.49039401_49039410del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465265_48465274del" "" "pathogenic" ""
"0000484998" "0" "99" "13" "49039430" "49039430" "del" "0" "03316" "RB1_000178" "g.49039430del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465294del" "" "pathogenic" ""
"0000484999" "0" "99" "13" "49039440" "49039440" "del" "0" "03316" "RB1_000179" "g.49039440del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465304del" "" "pathogenic" ""
"0000485000" "0" "99" "13" "49039454" "49039455" "dup" "0" "03316" "RB1_000180" "g.49039454_49039455dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465318_48465319dup" "" "pathogenic" ""
"0000485001" "0" "99" "13" "49039462" "49039462" "subst" "0" "03316" "RB1_000181" "g.49039462C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465326C>G" "" "pathogenic" ""
"0000485002" "0" "99" "13" "49047508" "49047508" "delins" "0" "03316" "RB1_000182" "g.49047508delinsTGTCAATG" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473372delinsTGTCAATG" "" "pathogenic" ""
"0000485003" "0" "99" "13" "49047519" "49047519" "subst" "0" "03316" "RB1_000183" "g.49047519C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473383C>G" "" "pathogenic" ""
"0000485004" "0" "99" "13" "49047522" "49047522" "del" "0" "03316" "RB1_000184" "g.49047522del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473386del" "" "pathogenic" ""
"0000485005" "0" "99" "13" "49050866" "49050866" "dup" "0" "03316" "RB1_000185" "g.49050866dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476730dup" "" "pathogenic" ""
"0000485006" "0" "55" "13" "48916732" "48916732" "del" "0" "03316" "RB1_000186" "g.48916732del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342596del" "" "VUS" ""
"0000485007" "0" "55" "13" "48916851" "48916851" "subst" "0" "03316" "RB1_000187" "g.48916851G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342715G>T" "" "VUS" ""
"0000485008" "0" "55" "13" "48916851" "48916851" "subst" "0" "03316" "RB1_000188" "g.48916851G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342715G>A" "" "VUS" ""
"0000485009" "0" "55" "13" "48919337" "48919337" "del" "0" "03316" "RB1_000189" "g.48919337del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345201del" "" "VUS" ""
"0000485010" "0" "55" "13" "48921960" "48921960" "subst" "0" "03316" "RB1_000190" "g.48921960G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48347824G>A" "" "VUS" ""
"0000485011" "0" "55" "13" "48923160" "48923160" "subst" "0" "03316" "RB1_000191" "g.48923160G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48349024G>T" "" "VUS" ""
"0000485012" "0" "55" "13" "48923160" "48923160" "subst" "0" "03316" "RB1_000192" "g.48923160G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48349024G>C" "" "VUS" ""
"0000485013" "0" "55" "13" "48937108" "48937108" "subst" "0" "03316" "RB1_000194" "g.48937108T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362972T>C" "" "VUS" ""
"0000485014" "0" "55" "13" "48941629" "48941629" "subst" "0" "03316" "RB1_000195" "g.48941629G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367493G>C" "" "VUS" ""
"0000485015" "0" "55" "13" "48942661" "48942661" "subst" "0" "03316" "RB1_000196" "g.48942661A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368525A>G" "" "VUS" ""
"0000485016" "0" "55" "13" "48951053" "48951053" "subst" "0" "03316" "RB1_000197" "g.48951053A>G" "" "{DB-RB1}" "" "1217-2A>G" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485017" "0" "55" "13" "48951054" "48951054" "subst" "0" "03316" "RB1_000198" "g.48951054G>A" "" "{DB-RB1}" "" "1217-1G>A" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485018" "0" "55" "13" "48947629" "48947629" "subst" "0" "03316" "RB1_000199" "g.48947629G>C" "" "{DB-RB1}" "" "1216+1G>C" "" "SUMMARY record" "" "" "0" "" "" "g.48373493G>C" "" "VUS" ""
"0000485019" "0" "55" "13" "48954232" "48954252" "del" "0" "03316" "RB1_000200" "g.48954232_48954252del" "" "{DB-RB1}" "" "1421+3_1421+23del" "" "SUMMARY record" "" "" "0" "" "" "g.48380096_48380116del" "" "VUS" ""
"0000485020" "0" "55" "13" "48951171" "48951171" "subst" "0" "03316" "RB1_000202" "g.48951171G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48377035G>A" "" "VUS" ""
"0000485021" "0" "55" "13" "48951172" "48951172" "subst" "0" "03316" "RB1_000203" "g.48951172T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48377036T>C" "" "VUS" ""
"0000485022" "0" "55" "13" "48951171" "48951171" "subst" "0" "03316" "RB1_000204" "g.48951171G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48377035G>T" "" "VUS" ""
"0000485023" "0" "55" "13" "48953791" "48953791" "subst" "0" "03316" "RB1_000205" "g.48953791G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379655G>A" "" "VUS" ""
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"0000485277" "0" "99" "13" "48941714" "48941714" "del" "0" "03316" "RB1_000497" "g.48941714del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367578del" "" "pathogenic" ""
"0000485278" "0" "99" "13" "48941668" "48941668" "del" "0" "03316" "RB1_000498" "g.48941668del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367532del" "" "pathogenic" ""
"0000485279" "0" "99" "13" "48939056" "48939056" "del" "0" "03316" "RB1_000499" "g.48939056del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364920del" "" "pathogenic" ""
"0000485280" "0" "55" "13" "48939106" "48939106" "subst" "0" "03316" "RB1_000500" "g.48939106A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364970A>G" "" "VUS" ""
"0000485281" "0" "99" "13" "48953753" "48953753" "del" "0" "03316" "RB1_000501" "g.48953753del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379617del" "" "pathogenic" ""
"0000485282" "0" "99" "13" "48947569" "48947569" "dup" "0" "03316" "RB1_000502" "g.48947569dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373433dup" "" "pathogenic" ""
"0000485283" "0" "99" "13" "48947544" "48947544" "del" "0" "03316" "RB1_000503" "g.48947544del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373408del" "" "pathogenic" ""
"0000485284" "0" "55" "13" "48953787" "48953787" "subst" "0" "03316" "RB1_000504" "g.48953787G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379651G>A" "" "VUS" ""
"0000485285" "0" "55" "13" "48954238" "48954258" "del" "0" "03316" "RB1_000505" "g.48954238_48954258del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380102_48380122del" "" "VUS" ""
"0000485286" "0" "55" "13" "48955517" "48955517" "subst" "0" "03316" "RB1_000506" "g.48955517G>T" "" "{DB-RB1}" "" "1498A>A" "" "SUMMARY record" "" "" "0" "" "" "g.48381381G>T" "" "VUS" ""
"0000485287" "0" "99" "13" "48954195" "48954195" "subst" "0" "03316" "RB1_000507" "g.48954195G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380059G>T" "" "pathogenic" ""
"0000485288" "0" "99" "13" "49037899" "49037899" "del" "0" "03316" "RB1_000508" "g.49037899del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463763del" "" "pathogenic" ""
"0000485289" "0" "55" "13" "49033971" "49033974" "del" "0" "03316" "RB1_000509" "g.49033971_49033974del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459835_48459838del" "" "VUS" ""
"0000485290" "0" "55" "13" "49037972" "49037972" "subst" "0" "03316" "RB1_000510" "g.49037972G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463836G>A" "" "VUS" ""
"0000485291" "0" "99" "13" "49039495" "49039495" "del" "0" "03316" "RB1_000511" "g.49039495del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465359del" "" "pathogenic" ""
"0000485292" "0" "99" "13" "49047504" "49047504" "dup" "0" "03316" "RB1_000512" "g.49047504dup" "" "{DB-RB1}" "" "2498_2499insT" "" "SUMMARY record" "" "" "0" "" "" "g.48473368dup" "" "pathogenic" ""
"0000485293" "0" "99" "13" "48881497" "48881498" "dup" "0" "03316" "RB1_000513" "g.48881497_48881498dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307361_48307362dup" "" "pathogenic" ""
"0000485294" "0" "55" "13" "48953729" "48953729" "subst" "0" "03316" "RB1_000514" "g.48953729G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379593G>A" "" "VUS" ""
"0000485295" "0" "55" "13" "48916885" "48916885" "subst" "0" "03316" "RB1_000515" "g.48916885T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342749T>G" "" "VUS" ""
"0000485296" "0" "55" "13" "48947469" "48947469" "subst" "0" "03316" "RB1_000516" "g.48947469?" "" "{DB-RB1}" "" "1128-72T>A" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485297" "0" "55" "13" "48954175" "48954175" "subst" "0.0420541" "03316" "RB1_000517" "g.48954175A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380039A>T" "" "VUS" ""
"0000485298" "0" "55" "13" "48976726" "48976726" "subst" "0" "03316" "RB1_000518" "g.48976726C>T" "" "{DB-RB1}" "" "1695+21147>CT" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485299" "0" "99" "13" "48951080" "48951081" "ins" "0" "03316" "RB1_000520" "g.48951080_48951081insG" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48376944_48376945insG" "" "pathogenic" ""
"0000485300" "0" "99" "13" "48955477" "48955477" "delins" "0" "03316" "RB1_000521" "g.48955477delinsTTT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381341delinsTTT" "" "pathogenic" ""
"0000485301" "0" "55" "13" "49037912" "49037912" "subst" "0" "03316" "RB1_000522" "g.49037912G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463776G>A" "" "VUS" ""
"0000485302" "0" "99" "13" "48955476" "48955477" "ins" "0" "03316" "RB1_000523" "g.48955476_48955477insTT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381340_48381341insTT" "" "pathogenic" ""
"0000485303" "0" "55" "13" "48934268" "48934268" "subst" "0" "03316" "RB1_000524" "g.48934268G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360132G>A" "" "VUS" ""
"0000485304" "0" "99" "13" "49027279" "49027279" "subst" "0" "03316" "RB1_000525" "g.49027279A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453143A>G" "" "pathogenic" ""
"0000485305" "0" "99" "13" "48934228" "48934229" "dup" "0" "03316" "RB1_000526" "g.48934228_48934229dup" "" "{DB-RB1}" "" "683_674dup" "" "SUMMARY record" "" "" "0" "" "" "g.48360092_48360093dup" "" "pathogenic" ""
"0000485306" "0" "55" "13" "48954377" "48954377" "subst" "0" "03316" "RB1_000527" "g.48954377A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380241A>G" "" "VUS" ""
"0000485307" "0" "99" "13" "49039406" "49039406" "dup" "0" "03316" "RB1_000528" "g.49039406dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465270dup" "" "pathogenic" ""
"0000485308" "0" "99" "13" "49030434" "49030434" "subst" "0" "03316" "RB1_000529" "g.49030434C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456298C>T" "" "pathogenic" ""
"0000485309" "0" "99" "13" "48881495" "48881498" "del" "0" "03316" "RB1_000530" "g.48881495_48881498del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307359_48307362del" "" "pathogenic" ""
"0000485310" "0" "99" "13" "48923128" "48923129" "del" "0" "03316" "RB1_000531" "g.48923128_48923129del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48348992_48348993del" "" "pathogenic" ""
"0000485311" "0" "99" "13" "48923158" "48923158" "del" "0" "03316" "RB1_000532" "g.48923158del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48349022del" "" "pathogenic" ""
"0000485312" "0" "99" "13" "48936959" "48936963" "delins" "0" "03316" "RB1_000533" "g.48936959_48936963delinsN[18]" "" "{DB-RB1}" "" "727_731delins18" "" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" ""
"0000485313" "0" "99" "13" "48939053" "48939056" "del" "0" "03316" "RB1_000534" "g.48939053_48939056del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364917_48364920del" "" "pathogenic" ""
"0000485314" "0" "99" "13" "49027233" "49027233" "del" "0" "03316" "RB1_000535" "g.49027233del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453097del" "" "pathogenic" ""
"0000485315" "0" "99" "13" "49030398" "49030398" "del" "0" "03316" "RB1_000536" "g.49030398del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456262del" "" "pathogenic" ""
"0000485316" "0" "55" "13" "49039403" "49039403" "del" "0" "03316" "RB1_000537" "g.49039403del" "" "{DB-RB1}" "" "2386del" "" "SUMMARY record" "" "" "0" "" "" "g.48465267del" "" "VUS" ""
"0000485317" "0" "55" "13" "48923161" "48923161" "subst" "0" "03316" "RB1_000538" "g.48923161T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48349025T>G" "" "VUS" ""
"0000485318" "0" "55" "13" "48936942" "48936942" "subst" "0" "03316" "RB1_000539" "g.48936942C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362806C>G" "" "VUS" ""
"0000485319" "0" "55" "13" "48937093" "48937093" "subst" "0" "03316" "RB1_000540" "g.48937093G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362957G>C" "" "VUS" ""
"0000485320" "0" "55" "13" "48934155" "48934155" "del" "0" "03316" "RB1_000545" "g.48934155del" "" "{DB-RB1}" "" "608-1del" "" "SUMMARY record" "" "" "0" "" "" "g.48360019del" "" "VUS" ""
"0000485321" "0" "99" "13" "48947552" "48947558" "del" "0" "03316" "RB1_000547" "g.48947552_48947558del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373416_48373422del" "" "pathogenic" ""
"0000485322" "0" "99" "13" "48947568" "48947578" "del" "0" "03316" "RB1_000548" "g.48947568_48947578del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373432_48373442del" "" "pathogenic" ""
"0000485323" "0" "99" "13" "48951125" "48951125" "dup" "0" "03316" "RB1_000549" "g.48951125dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48376989dup" "" "pathogenic" ""
"0000485324" "0" "99" "13" "48951120" "48951120" "del" "0" "03316" "RB1_000550" "g.48951120del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48376984del" "" "pathogenic" ""
"0000485325" "0" "99" "13" "48955497" "48955497" "del" "0" "03316" "RB1_000551" "g.48955497del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381361del" "" "pathogenic" ""
"0000485326" "0" "99" "13" "49027143" "49027143" "dup" "0" "03316" "RB1_000553" "g.49027143dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453007dup" "" "pathogenic" ""
"0000485327" "0" "99" "13" "49027236" "49027236" "del" "0" "03316" "RB1_000554" "g.49027236del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453100del" "" "pathogenic" ""
"0000485328" "0" "99" "13" "49039175" "49039175" "del" "0" "03316" "RB1_000555" "g.49039175del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465039del" "" "pathogenic" ""
"0000485329" "0" "99" "13" "49039149" "49039150" "del" "0" "03316" "RB1_000556" "g.49039149_49039150del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465013_48465014del" "" "pathogenic" ""
"0000485330" "0" "99" "13" "49037886" "49037897" "delins" "0" "03316" "RB1_000557" "g.49037886_49037897delinsN[6]" "" "{DB-RB1}" "" "2126_2137delins6" "" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" ""
"0000485331" "0" "99" "13" "49037873" "49037873" "del" "0" "03316" "RB1_000558" "g.49037873del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463737del" "" "pathogenic" ""
"0000485332" "0" "99" "13" "49033885" "49033885" "del" "0" "03316" "RB1_000559" "g.49033885del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459749del" "" "pathogenic" ""
"0000485333" "0" "99" "13" "49033894" "49033894" "del" "0" "03316" "RB1_000560" "g.49033894del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459758del" "" "pathogenic" ""
"0000485334" "0" "99" "13" "48878102" "48878121" "del" "0" "03316" "RB1_000563" "g.48878102_48878121del" "" "{DB-RB1}" "" "47_66del" "" "SUMMARY record" "" "" "0" "" "" "g.48303966_48303985del" "" "pathogenic" ""
"0000485335" "0" "99" "13" "48881475" "48881476" "dup" "0" "03316" "RB1_000565" "g.48881475_48881476dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307339_48307340dup" "" "pathogenic" ""
"0000485336" "0" "99" "13" "48919302" "48919304" "dup" "0" "03316" "RB1_000568" "g.48919302_48919304dup" "" "{DB-RB1}" "" "465_467dup" "" "SUMMARY record" "" "" "0" "" "" "g.48345166_48345168dup" "" "pathogenic" ""
"0000485337" "0" "55" "13" "48937093" "48939030" "ins" "0" "03316" "RB1_000569" "g.48937093_48939030insN[92]" "" "{DB-RB1}" "" "861_862ins92" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485338" "0" "99" "13" "49039149" "49039150" "ins" "0" "03316" "RB1_000571" "g.49039149_49039150insN[4]" "" "{DB-RB1}" "" "2227_2228ins4" "" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" ""
"0000485339" "0" "55" "13" "49039408" "49039408" "subst" "5.27957E-5" "03316" "RB1_000572" "g.49039408G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465272G>A" "" "VUS" ""
"0000485340" "0" "55" "13" "48878291" "48878291" "subst" "0" "03316" "RB1_000574" "g.48878291G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48304155G>T" "" "VUS" ""
"0000485341" "0" "99" "13" "49037953" "49037954" "del" "0" "03316" "RB1_000576" "g.49037953_49037954del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463817_48463818del" "" "pathogenic" ""
"0000485342" "0" "99" "13" "48881433" "48881434" "dup" "0" "03316" "RB1_000577" "g.48881433_48881434dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307297_48307298dup" "" "pathogenic" ""
"0000485343" "0" "99" "13" "48947609" "48947609" "del" "0" "03316" "RB1_000580" "g.48947609del" "" "{DB-RB1}" "" "1193del" "" "SUMMARY record" "" "" "0" "" "" "g.48373473del" "" "pathogenic" ""
"0000485344" "0" "55" "13" "48951026" "48951026" "subst" "0" "03316" "RB1_000581" "g.48951026A>G" "" "{DB-RB1}" "" "1217-29A>G" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485345" "0" "99" "13" "49027235" "49027235" "del" "0" "03316" "RB1_000583" "g.49027235del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453099del" "" "pathogenic" ""
"0000485346" "0" "99" "13" "49033950" "49033954" "del" "0" "03316" "RB1_000585" "g.49033950_49033954del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459814_48459818del" "" "pathogenic" ""
"0000485347" "0" "55" "13" "49039249" "49039249" "del" "0" "03316" "RB1_000587" "g.49039249del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465113del" "" "VUS" ""
"0000485348" "0" "99" "13" "49039464" "49039464" "subst" "0" "03316" "RB1_000588" "g.49039464G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465328G>T" "" "pathogenic" ""
"0000485349" "0" "55" "13" "49047488" "49047488" "subst" "0" "03316" "RB1_000589" "g.49047488C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473352C>G" "" "VUS" ""
"0000485350" "0" "55" "13" "49039327" "49039327" "subst" "0" "03316" "RB1_000590" "g.49039327T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465191T>C" "" "VUS" ""
"0000485351" "0" "99" "13" "49037930" "49037951" "del" "0" "03316" "RB1_000591" "g.49037930_49037951del" "" "{DB-RB1}" "" "2169_2190del" "" "SUMMARY record" "" "" "0" "" "" "g.48463794_48463815del" "" "pathogenic" ""
"0000485352" "0" "55" "13" "48881543" "48881543" "subst" "0" "03316" "RB1_000592" "g.48881543G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307407G>C" "" "VUS" ""
"0000485353" "0" "55" "13" "48953787" "48953787" "subst" "0" "03316" "RB1_000593" "g.48953787G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379651G>C" "" "VUS" ""
"0000485354" "0" "99" "13" "48954365" "48955383" "delins" "0" "03316" "RB1_000596" "g.48954365_48955383delinsN[4]" "" "{DB-RB1}" "" "1486_1499delins4" "" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" ""
"0000485355" "0" "55" "13" "49027249" "49027249" "subst" "0" "03316" "RB1_000597" "g.49027249T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453113T>C" "" "VUS" ""
"0000485356" "0" "55" "13" "48922000" "48922000" "subst" "0" "03316" "RB1_000598" "g.48922000G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48347864G>A" "" "VUS" ""
"0000485357" "0" "99" "13" "49027136" "49027139" "del" "0" "03316" "RB1_000605" "g.49027136_49027139del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453000_48453003del" "" "pathogenic" ""
"0000485358" "0" "99" "13" "49039170" "49039170" "dup" "0" "03316" "RB1_000606" "g.49039170dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465034dup" "" "pathogenic" ""
"0000485359" "0" "99" "13" "49047507" "49047507" "subst" "0" "03316" "RB1_000607" "g.49047507C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473371C>T" "" "pathogenic" ""
"0000485360" "0" "55" "13" "48955834" "48955835" "dup" "0" "03316" "RB1_000608" "g.48955834_48955835dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381698_48381699dup" "" "VUS" ""
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"0000485447" "0" "55" "13" "48942665" "48942665" "subst" "0" "03316" "RB1_000797" "g.48942665T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368529T>G" "" "VUS" ""
"0000485448" "0" "99" "13" "48942673" "48942674" "del" "0" "03316" "RB1_000798" "g.48942673_48942674del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368537_48368538del" "" "pathogenic" ""
"0000485449" "0" "99" "13" "48878157" "48878164" "del" "0" "03316" "RB1_000799" "g.48878157_48878164del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48304021_48304028del" "" "pathogenic" ""
"0000485450" "0" "99" "13" "48947554" "48947554" "dup" "0" "03316" "RB1_000800" "g.48947554dup" "" "{DB-RB1}" "" "1142insA" "" "SUMMARY record" "" "" "0" "" "" "g.48373418dup" "" "pathogenic" ""
"0000485451" "0" "99" "13" "48947574" "48947574" "del" "0" "03316" "RB1_000801" "g.48947574del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373438del" "" "pathogenic" ""
"0000485452" "0" "99" "13" "48951085" "48951085" "dup" "0" "03316" "RB1_000811" "g.48951085dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48376949dup" "" "pathogenic" ""
"0000485453" "0" "99" "13" "48951144" "48951144" "dup" "0" "03316" "RB1_000812" "g.48951144dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48377008dup" "" "pathogenic" ""
"0000485454" "0" "55" "13" "48953732" "48953732" "subst" "0" "03316" "RB1_000813" "g.48953732A>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379596A>C" "" "VUS" ""
"0000485455" "0" "99" "13" "48953729" "48953739" "del" "0" "03316" "RB1_000814" "g.48953729_48953739del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379593_48379603del" "" "pathogenic" ""
"0000485456" "0" "99" "13" "48953771" "48953771" "del" "0" "03316" "RB1_000815" "g.48953771del" "" "{DB-RB1}" "" "1373del" "" "SUMMARY record" "" "" "0" "" "" "g.48379635del" "" "pathogenic" ""
"0000485457" "0" "99" "13" "48953780" "48953780" "del" "0" "03316" "RB1_000816" "g.48953780del" "" "{DB-RB1}" "" "1382del" "" "SUMMARY record" "" "" "0" "" "" "g.48379644del" "" "pathogenic" ""
"0000485458" "0" "55" "13" "48954188" "48954188" "subst" "0" "03316" "RB1_000817" "g.48954188G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380052G>C" "" "VUS" ""
"0000485459" "0" "99" "13" "48954199" "48954202" "dup" "0" "03316" "RB1_000819" "g.48954199_48954202dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380063_48380066dup" "" "pathogenic" ""
"0000485460" "0" "99" "13" "48954328" "48954328" "dup" "0" "03316" "RB1_000820" "g.48954328dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380192dup" "" "pathogenic" ""
"0000485461" "0" "55" "13" "48954377" "48954377" "subst" "0" "03316" "RB1_000821" "g.48954377A>A" "" "{DB-RB1}" "" "1498A>A" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485462" "0" "99" "13" "48955421" "48955421" "del" "0" "03316" "RB1_000822" "g.48955421del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381285del" "" "pathogenic" ""
"0000485463" "0" "55" "13" "48955577" "48955590" "del" "0" "03316" "RB1_000823" "g.48955577_48955590del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381441_48381454del" "" "VUS" ""
"0000485464" "0" "55" "13" "49027117" "49027117" "subst" "0" "03316" "RB1_000825" "g.49027117T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48452981T>G" "" "VUS" ""
"0000485465" "0" "99" "13" "49027142" "49027143" "dup" "0" "03316" "RB1_000827" "g.49027142_49027143dup" "" "{DB-RB1}" "" "1710insTT" "" "SUMMARY record" "" "" "0" "" "" "g.48453006_48453007dup" "" "pathogenic" ""
"0000485466" "0" "55" "13" "49027211" "49027211" "dup" "0" "03316" "RB1_000829" "g.49027211dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453075dup" "" "VUS" ""
"0000485467" "0" "99" "13" "49027240" "49027240" "del" "0" "03316" "RB1_000830" "g.49027240del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453104del" "" "pathogenic" ""
"0000485468" "0" "99" "13" "49030402" "49030402" "dup" "0" "03316" "RB1_000832" "g.49030402dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456266dup" "" "pathogenic" ""
"0000485469" "0" "99" "13" "49030420" "49030420" "del" "0" "03316" "RB1_000833" "g.49030420del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456284del" "" "pathogenic" ""
"0000485470" "0" "99" "13" "48878066" "48878084" "del" "0" "03316" "RB1_000834" "g.48878066_48878084del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303930_48303948del" "" "pathogenic" ""
"0000485471" "0" "99" "13" "49033828" "49033828" "subst" "0" "03316" "RB1_000836" "g.49033828T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459692T>A" "" "pathogenic" ""
"0000485472" "0" "55" "13" "48881476" "48881476" "dup" "0" "03316" "RB1_000838" "g.48881476dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307340dup" "" "VUS" ""
"0000485473" "0" "55" "13" "48878067" "48878069" "delins" "0" "03316" "RB1_000839" "g.48878067_48878069delinsGG" "" "{DB-RB1}" "" "19delCGAinsGG" "" "SUMMARY record" "" "" "0" "" "" "g.48303931_48303933delinsGG" "" "VUS" ""
"0000485474" "0" "99" "13" "49033925" "49033925" "del" "0" "03316" "RB1_000840" "g.49033925del" "" "{DB-RB1}" "" "2060del" "" "SUMMARY record" "" "" "0" "" "" "g.48459789del" "" "pathogenic" ""
"0000485475" "0" "99" "13" "49033958" "49033961" "del" "0" "03316" "RB1_000841" "g.49033958_49033961del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459822_48459825del" "" "pathogenic" ""
"0000485476" "0" "99" "13" "49033959" "49033959" "dup" "0" "03316" "RB1_000842" "g.49033959dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459823dup" "" "pathogenic" ""
"0000485477" "0" "55" "13" "49037868" "49037868" "subst" "0" "03316" "RB1_000843" "g.49037868T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463732T>C" "" "VUS" ""
"0000485478" "0" "99" "13" "49037878" "49037890" "del" "0" "03316" "RB1_000844" "g.49037878_49037890del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463742_48463754del" "" "pathogenic" ""
"0000485479" "0" "99" "13" "48881494" "48881498" "del" "0" "03316" "RB1_000845" "g.48881494_48881498del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307358_48307362del" "" "pathogenic" ""
"0000485480" "0" "99" "13" "49037954" "49037957" "del" "0" "03316" "RB1_000848" "g.49037954_49037957del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463818_48463821del" "" "pathogenic" ""
"0000485481" "0" "55" "13" "48881498" "48881499" "ins" "0" "03316" "RB1_000850" "g.48881498_48881499insT" "" "{DB-RB1}" "" "2216t>" "" "SUMMARY record" "" "" "0" "" "" "g.48307362_48307363insT" "" "VUS" ""
"0000485482" "0" "55" "13" "49039136" "49039136" "dup" "0" "03316" "RB1_000851" "g.49039136dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465000dup" "" "VUS" ""
"0000485483" "0" "55" "13" "49039186" "49039187" "ins" "0" "03316" "RB1_000853" "g.49039186_49039187insN[11]" "" "{DB-RB1}" "" "2264_2265ins11" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485484" "0" "99" "13" "48878075" "48878106" "del" "0" "03316" "RB1_000858" "g.48878075_48878106del" "" "{DB-RB1}" "" "24_55del" "" "SUMMARY record" "" "" "0" "" "" "g.48303939_48303970del" "" "pathogenic" ""
"0000485485" "0" "99" "13" "49050868" "49050868" "del" "0" "03316" "RB1_000859" "g.49050868del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476732del" "" "pathogenic" ""
"0000485486" "0" "55" "13" "49050898" "49050899" "ins" "0" "03316" "RB1_000860" "g.49050898_49050899insT" "" "{DB-RB1}" "" "2582_2582insT" "" "SUMMARY record" "" "" "0" "" "" "g.48476762_48476763insT" "" "VUS" ""
"0000485487" "0" "99" "13" "49050900" "49050900" "del" "0" "03316" "RB1_000861" "g.49050900del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476764del" "" "pathogenic" ""
"0000485488" "0" "55" "13" "48878093" "48878094" "ins" "0" "03316" "RB1_000864" "g.48878093_48878094insN[23]" "" "{DB-RB1}" "" "45_46ins23" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485489" "0" "99" "13" "48919312" "48919312" "del" "0" "03316" "RB1_000865" "g.48919312del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345176del" "" "pathogenic" ""
"0000485490" "0" "99" "13" "48923159" "48934155" "del" "0" "03316" "RB1_000869" "g.48923159_48934155del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48349023_48360019del" "" "pathogenic" ""
"0000485491" "0" "55" "13" "48934152" "48934152" "subst" "0" "03316" "RB1_000870" "g.48934152G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360016G>A" "" "VUS" ""
"0000485492" "0" "99" "13" "48934191" "48934195" "del" "0" "03316" "RB1_000873" "g.48934191_48934195del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360055_48360059del" "" "pathogenic" ""
"0000485493" "0" "99" "13" "48934233" "48934234" "del" "0" "03316" "RB1_000874" "g.48934233_48934234del" "" "{DB-RB1}" "" "685_686del" "" "SUMMARY record" "" "" "0" "" "" "g.48360097_48360098del" "" "pathogenic" ""
"0000485494" "0" "55" "13" "48937036" "48937037" "ins" "0" "03316" "RB1_000878" "g.48937036_48937037insN[8]" "" "{DB-RB1}" "" "804_805ins8" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485495" "0" "99" "13" "48937038" "48937063" "del" "0" "03316" "RB1_000879" "g.48937038_48937063del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362902_48362927del" "" "pathogenic" ""
"0000485496" "0" "55" "13" "48939031" "48939031" "subst" "0" "03316" "RB1_000881" "g.48939031T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364895T>C" "" "VUS" ""
"0000485497" "0" "99" "13" "48939097" "48939097" "del" "0" "03316" "RB1_000883" "g.48939097del" "" "{DB-RB1}" "" "928del" "" "SUMMARY record" "" "" "0" "" "" "g.48364961del" "" "pathogenic" ""
"0000485498" "0" "99" "13" "48942730" "48942733" "del" "0" "03316" "RB1_000884" "g.48942730_48942733del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368594_48368597del" "" "pathogenic" ""
"0000485499" "0" "99" "13" "48923148" "48923148" "dup" "0" "03316" "RB1_000887" "g.48923148dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48349012dup" "" "pathogenic" ""
"0000485500" "0" "55" "13" "49027157" "49027158" "ins" "0" "03316" "RB1_000889" "g.49027157_49027158insN[17]" "" "{DB-RB1}" "" "1724_1725ins17" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485501" "0" "55" "13" "49033914" "49033914" "dup" "0" "03316" "RB1_000890" "g.49033914dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459778dup" "" "VUS" ""
"0000485502" "0" "99" "13" "48937069" "48937083" "del" "0" "03316" "RB1_000891" "g.48937069_48937083del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362933_48362947del" "" "pathogenic" ""
"0000485503" "0" "55" "13" "49037967" "49037968" "ins" "0" "03316" "RB1_000892" "g.49037967_49037968insN[4]" "" "{DB-RB1}" "" "2207_2208ins4" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485504" "0" "55" "13" "48937010" "48937011" "dup" "0" "03316" "RB1_000894" "g.48937010_48937011dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362874_48362875dup" "" "VUS" ""
"0000485505" "0" "55" "13" "49037914" "49037915" "ins" "0" "03316" "RB1_000896" "g.49037914_49037915insN[5]" "" "{DB-RB1}" "" "2154_2155ins5" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485506" "0" "55" "13" "49030412" "49030413" "dup" "0" "03316" "RB1_000897" "g.49030412_49030413dup" "" "{DB-RB1}" "" "1886_1887dup" "" "SUMMARY record" "" "" "0" "" "" "g.48456276_48456277dup" "" "VUS" ""
"0000485507" "0" "55" "13" "48919238" "48919239" "ins" "0" "03316" "RB1_000898" "g.48919238_48919239insA" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345102_48345103insA" "" "VUS" ""
"0000485508" "0" "55" "13" "49027169" "49027169" "delins" "0" "03316" "RB1_000899" "g.49027169delinsTCT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453033delinsTCT" "" "VUS" ""
"0000485509" "0" "55" "13" "49030424" "49030424" "subst" "0" "03316" "RB1_000900" "g.49030424C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456288C>T" "" "VUS" ""
"0000485510" "0" "55" "13" "49037869" "49037869" "subst" "0" "03316" "RB1_000901" "g.49037869t>T" "" "{DB-RB1}" "" "2109t>T" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485511" "0" "99" "13" "48955383" "48955383" "del" "0" "03316" "RB1_000903" "g.48955383del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381247del" "" "pathogenic" ""
"0000485512" "0" "55" "13" "48934188" "48934188" "dup" "0" "03316" "RB1_000904" "g.48934188dup" "" "{DB-RB1}" "" "641dup" "" "SUMMARY record" "" "" "0" "" "" "g.48360052dup" "" "VUS" ""
"0000485513" "0" "99" "13" "49039495" "49039501" "del" "0" "03316" "RB1_000905" "g.49039495_49039501del" "" "{DB-RB1}" "" "2478_2484del" "" "SUMMARY record" "" "" "0" "" "" "g.48465359_48465365del" "" "pathogenic" ""
"0000485514" "0" "99" "13" "49033835" "49033835" "del" "0" "03316" "RB1_000907" "g.49033835del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459699del" "" "pathogenic" ""
"0000485515" "0" "55" "13" "49033855" "49033856" "ins" "0" "03316" "RB1_000908" "g.49033855_49033856insN[7]" "" "{DB-RB1}" "" "1992_1993ins7" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485516" "0" "55" "13" "48936939" "48937134" "del" "0" "03316" "RB1_000909" "g.48936939_48937134del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362803_48362998del" "" "VUS" ""
"0000485517" "0" "55" "13" "48955584" "48955584" "subst" "0" "03316" "RB1_000911" "g.48955584G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381448G>A" "" "VUS" ""
"0000485518" "0" "55" "13" "49037851" "49037851" "subst" "0" "03316" "RB1_000913" "g.49037851T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463715T>G" "" "VUS" ""
"0000485519" "0" "55" "13" "49039252" "49039252" "subst" "0" "03316" "RB1_000914" "g.49039252G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465116G>T" "" "VUS" ""
"0000485520" "0" "55" "13" "48916853" "48916853" "subst" "0" "03316" "RB1_000915" "g.48916853A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342717A>T" "" "VUS" ""
"0000485521" "0" "55" "13" "48947630" "48947630" "dup" "0" "03316" "RB1_000916" "g.48947630dup" "" "{DB-RB1}" "" "1216+2dup" "" "SUMMARY record" "" "" "0" "" "" "g.48373494dup" "" "VUS" ""
"0000485522" "0" "55" "13" "48954221" "48954221" "subst" "0" "03316" "RB1_000917" "g.48954221G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380085G>C" "" "VUS" ""
"0000485523" "0" "55" "13" "48951054" "48951054" "subst" "0" "03316" "RB1_000918" "g.48951054G>T" "" "{DB-RB1}" "" "1217-1G>T" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485524" "0" "55" "13" "48954175" "48954175" "subst" "0" "03316" "RB1_000919" "g.48954175A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380039A>G" "" "VUS" ""
"0000485525" "0" "55" "13" "48954186" "48954186" "del" "0" "03316" "RB1_000920" "g.48954186del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380050del" "" "VUS" ""
"0000485526" "0" "55" "13" "48954379" "48954379" "subst" "0" "03316" "RB1_000921" "g.48954379T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380243T>C" "" "VUS" ""
"0000485527" "0" "55" "13" "48954380" "48954380" "subst" "0" "03316" "RB1_000922" "g.48954380A>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380244A>C" "" "VUS" ""
"0000485528" "0" "55" "13" "48878187" "48878187" "subst" "0" "03316" "RB1_000923" "g.48878187T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48304051T>A" "" "VUS" ""
"0000485529" "0" "55" "13" "49039340" "49039340" "subst" "0" "03316" "RB1_000924" "g.49039340G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465204G>A" "" "VUS" ""
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"0000485531" "0" "55" "13" "48877837" "48877837" "subst" "0" "03316" "RB1_000926" "g.48877837G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303701G>A" "" "VUS" ""
"0000485532" "0" "55" "13" "48877843" "48877860" "del" "0" "03316" "RB1_000927" "g.48877843_48877860del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303707_48303724del" "" "VUS" ""
"0000485533" "0" "55" "13" "48877852" "48877852" "subst" "0" "03316" "RB1_000928" "g.48877852G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303716G>A" "" "VUS" ""
"0000485534" "0" "55" "13" "48930735" "48930735" "subst" "0" "03316" "RB1_000929" "g.48930735A>G" "" "{DB-RB1}" "" "608-3416A>G" "" "SUMMARY record" "" "" "0" "" "" "g.48356599A>G" "" "VUS" ""
"0000485535" "0" "55" "13" "48955384" "48955384" "subst" "0" "03316" "RB1_000936" "g.48955384A>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381248A>C" "" "VUS" ""
"0000485536" "0" "55" "13" "48881458" "48881458" "dup" "0" "03316" "RB1_000937" "g.48881458dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307322dup" "" "VUS" ""
"0000485537" "0" "99" "13" "49039493" "49039494" "del" "0" "03316" "RB1_000938" "g.49039493_49039494del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465357_48465358del" "" "pathogenic" ""
"0000485538" "0" "99" "13" "48955463" "48955463" "del" "0" "03316" "RB1_000941" "g.48955463del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381327del" "" "pathogenic" ""
"0000485539" "0" "99" "13" "49033928" "49033928" "subst" "0" "03316" "RB1_000942" "g.49033928C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459792C>T" "" "pathogenic" ""
"0000485540" "0" "55" "13" "48934141" "48934141" "subst" "0" "03316" "RB1_000943" "g.48934141T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360005T>G" "" "VUS" ""
"0000485541" "0" "55" "13" "49039416" "49039416" "subst" "0" "03316" "RB1_000945" "g.49039416G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465280G>T" "" "VUS" ""
"0000485542" "0" "55" "13" "49037971" "49037971" "subst" "0" "03316" "RB1_000948" "g.49037971G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463835G>C" "" "VUS" ""
"0000485543" "0" "55" "13" "49039185" "49039185" "subst" "0" "03316" "RB1_000949" "g.49039185T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465049T>G" "" "VUS" ""
"0000485544" "0" "99" "13" "49033890" "49033890" "subst" "0" "03316" "RB1_000951" "g.49033890T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459754T>G" "" "pathogenic" ""
"0000485545" "0" "55" "13" "48953768" "48953768" "subst" "0" "03316" "RB1_000952" "g.48953768G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379632G>A" "" "VUS" ""
"0000485546" "0" "55" "13" "48877707" "48877707" "subst" "0" "03316" "RB1_000953" "g.48877707C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303571C>T" "" "VUS" ""
"0000485547" "0" "99" "13" "49030454" "49030459" "delins" "0" "03316" "RB1_000954" "g.49030454_49030459delinsN[22]" "" "{DB-RB1}" "" "1929_1934delins22" "" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" ""
"0000485548" "0" "99" "13" "48947555" "48947567" "del" "0" "03316" "RB1_000956" "g.48947555_48947567del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373419_48373431del" "" "pathogenic" ""
"0000485549" "0" "33" "13" "48878093" "48878101" "del" "0" "03316" "RB1_000957" "g.48878093_48878101del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303957_48303965del" "" "likely benign" ""
"0000485550" "0" "99" "13" "48955471" "48955471" "subst" "0" "03316" "RB1_000958" "g.48955471C>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381335C>A" "" "pathogenic" ""
"0000485551" "0" "99" "13" "49039399" "49039399" "subst" "0" "03316" "RB1_000959" "g.49039399C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465263C>G" "" "pathogenic" ""
"0000485552" "0" "55" "13" "49050980" "49050980" "subst" "0" "03316" "RB1_000960" "g.49050980G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476844G>A" "" "VUS" ""
"0000485553" "0" "99" "13" "48919225" "48919225" "del" "0" "03316" "RB1_000961" "g.48919225del" "" "{DB-RB1}" "" "388del" "" "SUMMARY record" "" "" "0" "" "" "g.48345089del" "" "pathogenic" ""
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"0000485555" "0" "99" "13" "48923136" "48923136" "subst" "0" "03316" "RB1_000963" "g.48923136G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48349000G>A" "" "pathogenic" ""
"0000485556" "0" "99" "13" "49033905" "49033905" "subst" "0" "03316" "RB1_000964" "g.49033905G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459769G>A" "" "pathogenic" ""
"0000485557" "0" "55" "13" "49039454" "49039454" "subst" "0" "03316" "RB1_000967" "g.49039454T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465318T>G" "" "VUS" ""
"0000485558" "0" "55" "13" "48881415" "48881415" "subst" "0" "03316" "RB1_000968" "g.48881415G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307279G>A" "" "VUS" ""
"0000485559" "0" "55" "13" "48937095" "48937095" "subst" "0" "03316" "RB1_000969" "g.48937095T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362959T>C" "" "VUS" ""
"0000485560" "0" "99" "13" "48955575" "48955607" "del" "0" "03316" "RB1_000970" "g.48955575_48955607del" "" "{DB-RB1}" "" "1690_1695+27del" "" "SUMMARY record" "" "" "0" "" "" "g.48381439_48381471del" "" "pathogenic" ""
"0000485561" "0" "99" "13" "48923127" "48923135" "del" "0" "03316" "RB1_000971" "g.48923127_48923135del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48348991_48348999del" "" "pathogenic" ""
"0000485562" "0" "99" "13" "48923156" "48923156" "subst" "0" "03316" "RB1_000972" "g.48923156A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48349020A>T" "" "pathogenic" ""
"0000485563" "0" "99" "13" "48953769" "48953769" "subst" "0" "03316" "RB1_000973" "g.48953769G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379633G>T" "" "pathogenic" ""
"0000485564" "0" "55" "13" "49037883" "49037883" "subst" "0" "03316" "RB1_000975" "g.49037883T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463747T>A" "" "VUS" ""
"0000485565" "0" "99" "13" "48954210" "48954210" "subst" "0" "03316" "RB1_000976" "g.48954210C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380074C>T" "" "pathogenic" ""
"0000485566" "0" "99" "13" "48881492" "48881492" "subst" "0" "03316" "RB1_000977" "g.48881492G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307356G>T" "" "pathogenic" ""
"0000485567" "0" "55" "13" "48934239" "48934239" "subst" "0" "03316" "RB1_000978" "g.48934239C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360103C>T" "" "VUS" ""
"0000485568" "0" "99" "13" "48937001" "48937001" "subst" "0" "03316" "RB1_000979" "g.48937001C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362865C>T" "" "pathogenic" ""
"0000485569" "0" "99" "13" "49039150" "49039150" "subst" "0" "03316" "RB1_000980" "g.49039150T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465014T>A" "" "pathogenic" ""
"0000485570" "0" "99" "13" "48937043" "48937043" "dup" "0" "03316" "RB1_000981" "g.48937043dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362907dup" "" "pathogenic" ""
"0000485571" "0" "99" "13" "48923143" "48923143" "dup" "0" "03316" "RB1_000982" "g.48923143dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48349007dup" "" "pathogenic" ""
"0000485572" "0" "99" "13" "48937025" "48937043" "del" "0" "03316" "RB1_000983" "g.48937025_48937043del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362889_48362907del" "" "pathogenic" ""
"0000485573" "0" "99" "13" "49039150" "49039150" "del" "0" "03316" "RB1_000984" "g.49039150del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465014del" "" "pathogenic" ""
"0000485574" "0" "99" "13" "48939070" "48939070" "dup" "0" "03316" "RB1_000985" "g.48939070dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364934dup" "" "pathogenic" ""
"0000485575" "0" "55" "13" "48878291" "48878291" "subst" "0" "03316" "RB1_000986" "g.48878291G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48304155G>A" "" "VUS" ""
"0000485576" "0" "55" "13" "48916895" "48916895" "subst" "0.236373" "03316" "RB1_000987" "g.48916895C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342759C>T" "" "VUS" ""
"0000485577" "0" "55" "13" "48976726" "48976726" "subst" "0" "03316" "RB1_000988" "g.48976726?" "" "{DB-RB1}" "" "1695+21147C>T" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485578" "0" "55" "13" "49049065" "49049065" "subst" "0" "03316" "RB1_000989" "g.49049065C>G" "" "{DB-RB1}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485579" "0" "55" "13" "48876186" "48876187" "ins" "0" "03316" "RB1_000991" "g.48876186_48876187insGATACT" "" "{DB-RB1}" "" "-1865_-1864insCTGATA" "" "SUMMARY record" "" "" "0" "" "" "g.48302050_48302051insGATACT" "" "VUS" ""
"0000485580" "0" "55" "13" "48876188" "48876188" "del" "0" "03316" "RB1_000992" "g.48876188del" "" "{DB-RB1}" "" "-1862del" "" "SUMMARY record" "" "" "0" "" "" "g.48302052del" "" "VUS" ""
"0000485581" "0" "55" "13" "48876360" "48876360" "subst" "0" "03316" "RB1_000993" "g.48876360?" "" "{DB-RB1}" "" "-1689C>A" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485582" "0" "55" "13" "48876594" "48876594" "subst" "0" "03316" "RB1_000994" "g.48876594?" "" "{DB-RB1}" "" "-1455T>C" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485583" "0" "55" "13" "48876903" "48876903" "subst" "0" "03316" "RB1_000995" "g.48876903?" "" "{DB-RB1}" "" "-1146C>T" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485584" "0" "55" "13" "48877012" "48877012" "subst" "0" "03316" "RB1_000996" "g.48877012?" "" "{DB-RB1}" "" "-1037G>A" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485585" "0" "55" "13" "48877208" "48877208" "subst" "0" "03316" "RB1_000997" "g.48877208?" "" "{DB-RB1}" "" "-841C>T" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485586" "0" "55" "13" "48877271" "48877271" "subst" "0" "03316" "RB1_000998" "g.48877271?" "" "{DB-RB1}" "" "-778C>T" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485587" "0" "55" "13" "48877317" "48877317" "subst" "0" "03316" "RB1_000999" "g.48877317?" "" "{DB-RB1}" "" "-732A>C" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485588" "0" "55" "13" "48877398" "48877398" "subst" "0" "03316" "RB1_001000" "g.48877398?" "" "{DB-RB1}" "" "-651A>G" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485589" "0" "55" "13" "48877590" "48877590" "subst" "0" "03316" "RB1_001001" "g.48877590C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303454C>T" "" "VUS" ""
"0000485590" "0" "55" "13" "48881292" "48881292" "subst" "0" "03316" "RB1_001003" "g.48881292C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307156C>T" "" "VUS" ""
"0000485591" "0" "55" "13" "48881381" "48881386" "del" "0" "03316" "RB1_001004" "g.48881381_48881386del" "" "{DB-RB1}" "" "138-36_138-31del" "" "SUMMARY record" "" "" "0" "" "" "g.48307245_48307250del" "" "VUS" ""
"0000485592" "0" "11" "13" "48881617" "48881617" "subst" "0" "03316" "RB1_001005" "g.48881617T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307481T>C" "" "benign" ""
"0000485593" "0" "55" "13" "48916860" "48916860" "subst" "0.00175421" "03316" "RB1_001006" "g.48916860C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342724C>G" "" "VUS" ""
"0000485594" "0" "55" "13" "48916862" "48916862" "subst" "0.00260376" "03316" "RB1_001007" "g.48916862T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342726T>C" "" "VUS" ""
"0000485595" "0" "55" "13" "48916868" "48916869" "del" "0" "03316" "RB1_001008" "g.48916868_48916869del" "" "{DB-RB1}" "" "380+17_380+18del" "" "SUMMARY record" "" "" "0" "" "" "g.48342732_48342733del" "" "VUS" ""
"0000485596" "0" "55" "13" "48916887" "48916887" "subst" "0.00638642" "03316" "RB1_001009" "g.48916887A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342751A>G" "" "VUS" ""
"0000485597" "0" "55" "13" "48919064" "48919064" "subst" "0" "03316" "RB1_001010" "g.48919064A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48344928A>G" "" "VUS" ""
"0000485598" "0" "55" "13" "48919232" "48919232" "subst" "0" "03316" "RB1_001011" "g.48919232A>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345096A>C" "" "VUS" ""
"0000485599" "0" "55" "13" "48919358" "48919358" "subst" "0" "03316" "RB1_001013" "g.48919358?" "" "{DB-RB1}" "" "500+23G>T" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485600" "0" "55" "13" "48919381" "48919381" "subst" "0.00135523" "03316" "RB1_001014" "g.48919381A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345245A>G" "" "VUS" ""
"0000485601" "0" "55" "13" "48921884" "48921884" "subst" "0" "03316" "RB1_001015" "g.48921884?" "" "{DB-RB1}" "" "501-77G>A" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485602" "0" "55" "13" "48921923" "48921923" "subst" "0.00218106" "03316" "RB1_001016" "g.48921923G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48347787G>A" "" "VUS" ""
"0000485603" "0" "55" "13" "48921939" "48921939" "subst" "1.25213E-5" "03316" "RB1_001017" "g.48921939G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48347803G>T" "" "VUS" ""
"0000485604" "0" "55" "13" "48923069" "48923069" "dup" "0" "03316" "RB1_001018" "g.48923069dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48348933dup" "" "VUS" ""
"0000485605" "0" "55" "13" "48923358" "48923358" "subst" "0" "03316" "RB1_001019" "g.48923358T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48349222T>A" "" "VUS" ""
"0000485606" "0" "55" "13" "48934129" "48934129" "subst" "0" "03316" "RB1_001020" "g.48934129T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48359993T>A" "" "VUS" ""
"0000485607" "0" "55" "13" "48934122" "48934122" "subst" "8.25014E-6" "03316" "RB1_001021" "g.48934122C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48359986C>T" "" "VUS" ""
"0000485608" "0" "55" "13" "48934289" "48934289" "subst" "0.00110331" "03316" "RB1_001022" "g.48934289T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360153T>C" "" "VUS" ""
"0000485609" "0" "55" "13" "48934298" "48934298" "subst" "0.00227791" "03316" "RB1_001023" "g.48934298A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360162A>T" "" "VUS" ""
"0000485610" "0" "55" "13" "48934401" "48934401" "subst" "0" "03316" "RB1_001024" "g.48934401G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360265G>A" "" "VUS" ""
"0000485611" "0" "55" "13" "48936773" "48936773" "subst" "0" "03316" "RB1_001025" "g.48936773T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362637T>C" "" "VUS" ""
"0000485612" "0" "55" "13" "48938970" "48938970" "subst" "0" "03316" "RB1_001026" "g.48938970T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364834T>G" "" "VUS" ""
"0000485613" "0" "55" "13" "48939003" "48939003" "subst" "6.46496E-6" "03316" "RB1_001027" "g.48939003A>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364867A>C" "" "VUS" ""
"0000485614" "0" "55" "13" "48939194" "48939194" "subst" "0" "03316" "RB1_001030" "g.48939194T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48365058T>C" "" "VUS" ""
"0000485615" "0" "55" "13" "48941797" "48941797" "subst" "0" "03316" "RB1_001031" "g.48941797G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367661G>A" "" "VUS" ""
"0000485616" "0" "55" "13" "48941797" "48941797" "subst" "0" "03316" "RB1_001032" "g.48941797G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367661G>C" "" "VUS" ""
"0000485617" "0" "55" "13" "48942606" "48942606" "subst" "0" "03316" "RB1_001033" "g.48942606A>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368470A>C" "" "VUS" ""
"0000485618" "0" "55" "13" "48942781" "48942781" "subst" "0" "03316" "RB1_001034" "g.48942781A>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368645A>C" "" "VUS" ""
"0000485619" "0" "55" "13" "48942814" "48942814" "subst" "0" "03316" "RB1_001035" "g.48942814C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368678C>T" "" "VUS" ""
"0000485620" "0" "55" "13" "48942840" "48942840" "subst" "0" "03316" "RB1_001036" "g.48942840T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368704T>C" "" "VUS" ""
"0000485621" "0" "55" "13" "48942913" "48942913" "subst" "0" "03316" "RB1_001037" "g.48942913G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368777G>A" "" "VUS" ""
"0000485622" "0" "55" "13" "48947469" "48947469" "subst" "0" "03316" "RB1_001038" "g.48947469?" "" "{DB-RB1}" "" "1128-72T>G" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485623" "0" "55" "13" "48947657" "48947657" "subst" "0" "03316" "RB1_001039" "g.48947657G>A" "" "{DB-RB1}" "" "1216+29G>A" "" "SUMMARY record" "" "" "0" "" "" "g.48373521G>A" "" "VUS" ""
"0000485624" "0" "55" "13" "48951238" "48951238" "subst" "0" "03316" "RB1_001041" "g.48951238T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48377102T>A" "" "VUS" ""
"0000485625" "0" "55" "13" "48953980" "48953980" "del" "0" "03316" "RB1_001042" "g.48953980del" "" "{DB-RB1}" "" "1389+192del" "" "SUMMARY record" "" "" "0" "" "" "g.48379844del" "" "VUS" ""
"0000485626" "0" "55" "13" "48954017" "48954017" "subst" "0" "03316" "RB1_001043" "g.48954017A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379881A>T" "" "VUS" ""
"0000485627" "0" "55" "13" "48954021" "48954021" "subst" "0" "03316" "RB1_001044" "g.48954021?" "" "{DB-RB1}" "" "1389+235C>G" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485628" "0" "55" "13" "48954072" "48954072" "subst" "0" "03316" "RB1_001045" "g.48954072G>A" "" "{DB-RB1}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485629" "0" "55" "13" "48954164" "48954164" "subst" "0" "03316" "RB1_001046" "g.48954164T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380028T>G" "" "VUS" ""
"0000485630" "0" "55" "13" "48954172" "48954172" "del" "0" "03316" "RB1_001047" "g.48954172del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380036del" "" "VUS" ""
"0000485631" "0" "55" "13" "49027140" "49027140" "subst" "0.000639662" "03316" "RB1_001050" "g.49027140A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453004A>G" "" "VUS" ""
"0000485632" "0" "55" "13" "49027229" "49027229" "subst" "0" "03316" "RB1_001051" "g.49027229A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453093A>G" "" "VUS" ""
"0000485633" "0" "55" "13" "49030227" "49030227" "subst" "0" "03316" "RB1_001053" "g.49030227A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456091A>G" "" "VUS" ""
"0000485634" "0" "55" "13" "49030236" "49030236" "subst" "0" "03316" "RB1_001054" "g.49030236A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456100A>G" "" "VUS" ""
"0000485635" "0" "55" "13" "49030385" "49030385" "subst" "4.06121E-6" "03316" "RB1_001055" "g.49030385G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456249G>A" "" "VUS" ""
"0000485636" "0" "55" "13" "49033747" "49033747" "subst" "0" "03316" "RB1_001056" "g.49033747?" "" "{DB-RB1}" "" "1961-77A>G" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485637" "0" "55" "13" "49033844" "49033844" "subst" "0" "03316" "RB1_001057" "g.49033844C>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459708C>A" "" "VUS" ""
"0000485638" "0" "55" "13" "49033954" "49033954" "subst" "1.62426E-5" "03316" "RB1_001058" "g.49033954C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459818C>G" "" "VUS" ""
"0000485639" "0" "55" "13" "49039123" "49039123" "subst" "0" "03316" "RB1_001059" "g.49039123T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48464987T>A" "" "VUS" ""
"0000485640" "0" "55" "13" "49039159" "49039159" "subst" "0" "03316" "RB1_001060" "g.49039159A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465023A>G" "" "VUS" ""
"0000485641" "0" "55" "13" "49047451" "49047451" "subst" "0.00571384" "03316" "RB1_001061" "g.49047451A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473315A>G" "" "VUS" ""
"0000485642" "0" "55" "13" "49050826" "49050826" "subst" "0.00631684" "03316" "RB1_001062" "g.49050826G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476690G>A" "" "VUS" ""
"0000485643" "0" "55" "13" "49051012" "49051012" "subst" "0" "03316" "RB1_001063" "g.49051012?" "" "{DB-RB1}" "" "2663+33T>C" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485644" "0" "55" "13" "48955661" "48955661" "" "0" "03316" "RB1_001065" "g.48955661?" "" "{DB-RB1}" "" "1695+82" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485645" "0" "55" "13" "48934126" "48934126" "subst" "0" "03316" "RB1_001066" "g.48934126C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48359990C>T" "" "VUS" ""
"0000485646" "0" "55" "13" "49027062" "49027062" "subst" "0" "03316" "RB1_001067" "g.49027062A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48452926A>G" "" "VUS" ""
"0000485647" "0" "55" "13" "49039296" "49039296" "subst" "0" "03316" "RB1_001068" "g.49039296A>C" "" "{DB-RB1}" "" "2326+49A>C" "" "SUMMARY record" "" "" "0" "" "" "g.48465160A>C" "" "VUS" ""
"0000485648" "0" "55" "13" "48989065" "48989065" "subst" "0" "03316" "RB1_001069" "g.48989065?" "" "{DB-RB1}" "" "1695+33486C>G" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485649" "0" "55" "13" "49012267" "49012267" "subst" "0" "03316" "RB1_001070" "g.49012267?" "" "{DB-RB1}" "" "1696-14862A>G" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485650" "0" "55" "13" "48947469" "48947469" "subst" "0" "03316" "RB1_001071" "g.48947469?" "" "{DB-RB1}" "" "1128-72T>A" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485651" "0" "55" "13" "48941595" "48941595" "subst" "0.000343236" "03316" "RB1_001072" "g.48941595T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367459T>C" "" "VUS" ""
"0000485652" "0" "55" "13" "49027047" "49027047" "subst" "0" "03316" "RB1_001073" "g.49027047A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48452911A>G" "" "VUS" ""
"0000485653" "0" "55" "13" "49027319" "49027319" "subst" "0" "03316" "RB1_001074" "g.49027319T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453183T>G" "" "VUS" ""
"0000485654" "0" "55" "13" "48997487" "48997487" "subst" "0" "03316" "RB1_001075" "g.48997487?" "" "{DB-RB1}" "" "1696-29642A>G" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485655" "0" "55" "13" "48976662" "48976662" "subst" "0" "03316" "RB1_001076" "g.48976662?" "" "{DB-RB1}" "" "1695+21083C>T" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485656" "0" "55" "13" "48892973" "48892973" "subst" "0" "03316" "RB1_001077" "g.48892973?" "" "{DB-RB1}" "" "264+11431G>T" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485657" "0" "55" "13" "48893223" "48893223" "subst" "0" "03316" "RB1_001078" "g.48893223?" "" "{DB-RB1}" "" "264+11681G>A" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485658" "0" "55" "13" "48948568" "48948568" "subst" "0" "03316" "RB1_001079" "g.48948568G>A" "" "{DB-RB1}" "" "1216+940G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485659" "0" "55" "13" "49026852" "49026852" "subst" "0" "03316" "RB1_001080" "g.49026852?" "" "{DB-RB1}" "" "1696-277T>C" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485660" "0" "55" "13" "49048757" "49048757" "subst" "0" "03316" "RB1_001081" "g.49048757?" "" "{DB-RB1}" "" "2520+1231G>C" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485661" "0" "55" "13" "49048919" "49048919" "subst" "0" "03316" "RB1_001082" "g.49048919T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48474783T>C" "" "VUS" ""
"0000485662" "0" "55" "13" "49047453" "49047453" "subst" "0.00045146" "03316" "RB1_001084" "g.49047453A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473317A>G" "" "VUS" ""
"0000485663" "0" "55" "13" "48971326" "48971326" "subst" "0" "03316" "RB1_001085" "g.48971326?" "" "{DB-RB1}" "" "1695+15747A>G" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485664" "0" "55" "13" "48878270" "48878270" "subst" "0" "03316" "RB1_001095" "g.48878270?" "" "{DB-RB1}" "" "137+85C>T" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485665" "0" "55" "13" "48919029" "48919029" "subst" "0" "03316" "RB1_001097" "g.48919029A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48344893A>G" "" "VUS" ""
"0000485666" "0" "55" "13" "48919158" "48919158" "subst" "0" "03316" "RB1_001098" "g.48919158G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345022G>A" "" "VUS" ""
"0000485667" "0" "55" "13" "48919506" "48919506" "subst" "0" "03316" "RB1_001099" "g.48919506A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345370A>G" "" "VUS" ""
"0000485668" "0" "55" "13" "48919534" "48919534" "subst" "0" "03316" "RB1_001100" "g.48919534A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345398A>T" "" "VUS" ""
"0000485669" "0" "55" "13" "48923011" "48923011" "subst" "0" "03316" "RB1_001101" "g.48923011C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48348875C>T" "" "VUS" ""
"0000485670" "0" "55" "13" "48937260" "48937260" "subst" "0" "03316" "RB1_001103" "g.48937260A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48363124A>G" "" "VUS" ""
"0000485671" "0" "55" "13" "48941519" "48941519" "subst" "0" "03316" "RB1_001104" "g.48941519C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367383C>T" "" "VUS" ""
"0000485672" "0" "55" "13" "48947735" "48947735" "subst" "0" "03316" "RB1_001105" "g.48947735A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373599A>G" "" "VUS" ""
"0000485673" "0" "55" "13" "48950896" "48950896" "subst" "0" "03316" "RB1_001106" "g.48950896T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48376760T>C" "" "VUS" ""
"0000485674" "0" "55" "13" "48953669" "48953669" "dup" "0" "03316" "RB1_001107" "g.48953669dup" "" "{DB-RB1}" "" "1333-71_1333-70insA" "" "SUMMARY record" "" "" "0" "" "" "g.48379533dup" "" "VUS" ""
"0000485675" "0" "55" "13" "48954021" "48954021" "subst" "0" "03316" "RB1_001109" "g.48954021G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379885G>C" "" "VUS" ""
"0000485676" "0" "55" "13" "48954092" "48954092" "subst" "0" "03316" "RB1_001110" "g.48954092C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379956C>T" "" "VUS" ""
"0000485677" "0" "55" "13" "48955201" "48955201" "subst" "0" "03316" "RB1_001111" "g.48955201T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381065T>A" "" "VUS" ""
"0000485678" "0" "55" "13" "48955266" "48955266" "subst" "0" "03316" "RB1_001112" "g.48955266T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381130T>C" "" "VUS" ""
"0000485679" "0" "55" "13" "48955326" "48955326" "del" "0" "03316" "RB1_001113" "g.48955326del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381190del" "" "VUS" ""
"0000485680" "0" "55" "13" "48955660" "48955661" "ins" "0" "03316" "RB1_001114" "g.48955660_48955661insAA" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381524_48381525insAA" "" "VUS" ""
"0000485681" "0" "55" "13" "48955676" "48955676" "subst" "0" "03316" "RB1_001115" "g.48955676T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381540T>A" "" "VUS" ""
"0000485682" "0" "55" "13" "49033668" "49033668" "subst" "0" "03316" "RB1_001116" "g.49033668T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459532T>C" "" "VUS" ""
"0000485683" "0" "55" "13" "49034085" "49034088" "dup" "0" "03316" "RB1_001117" "g.49034085_49034088dup" "" "{DB-RB1}" "" "2106+53_2106+54insTTCT" "" "SUMMARY record" "" "" "0" "" "" "g.48459949_48459952dup" "" "VUS" ""
"0000485684" "0" "55" "13" "49034024" "49034024" "dup" "0" "03316" "RB1_001118" "g.49034024dup" "" "{DB-RB1}" "" "2106+55_2106+56insT" "" "SUMMARY record" "" "" "0" "" "" "g.48459888dup" "" "VUS" ""
"0000485685" "0" "55" "13" "49034088" "49034089" "ins" "0" "03316" "RB1_001119" "g.49034088_49034089insCTT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459952_48459953insCTT" "" "VUS" ""
"0000485686" "0" "55" "13" "49034098" "49034098" "dup" "0" "03316" "RB1_001120" "g.49034098dup" "" "{DB-RB1}" "" "2106+129_2106+130insT" "" "SUMMARY record" "" "" "0" "" "" "g.48459962dup" "" "VUS" ""
"0000485687" "0" "55" "13" "49034105" "49034105" "subst" "0" "03316" "RB1_001121" "g.49034105C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459969C>T" "" "VUS" ""
"0000485688" "0" "55" "13" "49034115" "49034116" "ins" "0" "03316" "RB1_001122" "g.49034115_49034116insCTTTTT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459979_48459980insCTTTTT" "" "VUS" ""
"0000485689" "0" "55" "13" "49034154" "49034154" "subst" "0" "03316" "RB1_001123" "g.49034154A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48460018A>G" "" "VUS" ""
"0000485690" "0" "55" "13" "49039118" "49039118" "del" "0" "03316" "RB1_001124" "g.49039118del" "" "{DB-RB1}" "" "2212-31del" "" "SUMMARY record" "" "" "0" "" "" "g.48464982del" "" "VUS" ""
"0000485691" "0" "55" "13" "49039118" "49039118" "dup" "0" "03316" "RB1_001125" "g.49039118dup" "" "{DB-RB1}" "" "2212-16_2212-15insT" "" "SUMMARY record" "" "" "0" "" "" "g.48464982dup" "" "VUS" ""
"0000485692" "0" "55" "13" "49047402" "49047402" "subst" "0" "03316" "RB1_001126" "g.49047402T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473266T>A" "" "VUS" ""
"0000485693" "0" "55" "13" "49047417" "49047417" "subst" "0" "03316" "RB1_001127" "g.49047417A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473281A>G" "" "VUS" ""
"0000485694" "0" "55" "13" "49050698" "49050698" "subst" "0" "03316" "RB1_001128" "g.49050698T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476562T>C" "" "VUS" ""
"0000485695" "0" "55" "13" "49050825" "49050825" "subst" "0" "03316" "RB1_001129" "g.49050825T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476689T>A" "" "VUS" ""
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"0000485865" "0" "99" "13" "49033874" "49033877" "del" "0" "03316" "RB1_001380" "g.49033874_49033877del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459738_48459741del" "" "pathogenic" ""
"0000485866" "0" "99" "13" "49039229" "49039230" "delins" "0" "03316" "RB1_001386" "g.49039229_49039230delinsTTTT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465093_48465094delinsTTTT" "" "pathogenic" ""
"0000485867" "0" "99" "13" "48954333" "48954333" "del" "0" "03316" "RB1_001388" "g.48954333del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380197del" "" "pathogenic" ""
"0000485868" "0" "99" "13" "49033851" "49033851" "del" "0" "03316" "RB1_001389" "g.49033851del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459715del" "" "pathogenic" ""
"0000485869" "0" "99" "13" "48942738" "48942740" "delins" "0" "03316" "RB1_001390" "g.48942738_48942740delinsAA" "" "{DB-RB1}" "" "1225_1127delinsAA" "" "SUMMARY record" "" "" "0" "" "" "g.48368602_48368604delinsAA" "" "pathogenic" ""
"0000485870" "0" "77" "13" "49030344" "49030344" "subst" "0" "03316" "RB1_001391" "g.49030344C>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456208C>A" "" "likely pathogenic" ""
"0000485871" "0" "77" "13" "49030386" "49030386" "subst" "9.74675E-5" "03316" "RB1_001392" "g.49030386C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456250C>T" "" "likely pathogenic" ""
"0000485872" "0" "77" "13" "49033955" "49033955" "subst" "0" "03316" "RB1_001393" "g.49033955A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459819A>T" "" "likely pathogenic" ""
"0000485873" "0" "55" "13" "49027203" "49027203" "subst" "0.000675615" "03316" "RB1_001394" "g.49027203T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453067T>C" "" "VUS" ""
"0000485874" "0" "55" "13" "48947468" "48947468" "subst" "0" "03316" "RB1_001395" "g.48947468T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373332T>G" "" "VUS" ""
"0000485875" "0" "77" "13" "48919308" "48919308" "subst" "0" "03316" "RB1_001396" "g.48919308T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345172T>C" "" "likely pathogenic" ""
"0000485876" "0" "77" "13" "48919248" "48919248" "subst" "0" "03316" "RB1_001397" "g.48919248T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345112T>G" "" "likely pathogenic" ""
"0000485877" "0" "77" "13" "49039396" "49039396" "subst" "0" "03316" "RB1_001398" "g.49039396G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465260G>T" "" "likely pathogenic" ""
"0000485878" "0" "55" "13" "48934167" "48934167" "subst" "0" "03316" "RB1_001399" "g.48934167A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360031A>G" "" "VUS" ""
"0000485879" "0" "77" "13" "49051513" "49051515" "del" "0" "03316" "RB1_001400" "g.49051513_49051515del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48477377_48477379del" "" "likely pathogenic" ""
"0000485880" "0" "55" "13" "49033940" "49033940" "del" "0" "03316" "RB1_001401" "g.49033940del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459804del" "" "VUS" ""
"0000485881" "0" "77" "13" "48955422" "48955423" "del" "0" "03316" "RB1_001402" "g.48955422_48955423del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381286_48381287del" "" "likely pathogenic" ""
"0000485882" "0" "77" "13" "48937005" "48937005" "del" "0" "03316" "RB1_001403" "g.48937005del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362869del" "" "likely pathogenic" ""
"0000485883" "0" "55" "13" "48923111" "48923111" "subst" "0" "03316" "RB1_001404" "g.48923111T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48348975T>A" "" "VUS" ""
"0000485884" "0" "55" "13" "49030359" "49030359" "subst" "0" "03316" "RB1_001405" "g.49030359T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456223T>C" "" "VUS" ""
"0000485885" "0" "55" "13" "49027186" "49027186" "subst" "4.06911E-6" "03316" "RB1_001406" "g.49027186C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453050C>T" "" "VUS" ""
"0000485886" "0" "77" "13" "49039506" "49039506" "subst" "0" "03316" "RB1_001407" "g.49039506T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465370T>C" "" "likely pathogenic" ""
"0000485887" "0" "99" "13" "48937080" "48937084" "del" "0" "03316" "RB1_001408" "g.48937080_48937084del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362944_48362948del" "" "pathogenic" ""
"0000485888" "0" "99" "13" "48878093" "48878124" "del" "0" "03316" "RB1_001409" "g.48878093_48878124del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303957_48303988del" "" "pathogenic" ""
"0000485889" "0" "99" "13" "48955481" "48955481" "del" "0" "03316" "RB1_001410" "g.48955481del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381345del" "" "pathogenic" ""
"0000485890" "0" "99" "13" "48878148" "48878148" "subst" "0" "03316" "RB1_001411" "g.48878148G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48304012G>T" "" "pathogenic" ""
"0000485891" "0" "77" "13" "48921999" "48921999" "subst" "0" "03316" "RB1_001412" "g.48921999C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48347863C>G" "" "likely pathogenic" ""
"0000485892" "0" "55" "13" "48919220" "48919220" "subst" "0" "03316" "RB1_001413" "g.48919220C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345084C>T" "" "VUS" ""
"0000485893" "0" "55" "13" "48955382" "48955382" "subst" "0" "03316" "RB1_001414" "g.48955382G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381246G>T" "" "VUS" ""
"0000485894" "0" "99" "13" "49039133" "49039133" "subst" "0" "03316" "RB1_001415" "g.49039133G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48464997G>T" "" "pathogenic" ""
"0000485895" "0" "99" "13" "48916735" "48916735" "subst" "0" "03316" "RB1_001416" "g.48916735G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342599G>T" "" "pathogenic" ""
"0000485896" "0" "55" "13" "48916821" "48916821" "del" "0" "03316" "RB1_001421" "g.48916821del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342685del" "" "VUS" ""
"0000485897" "0" "99" "13" "48937064" "48937064" "dup" "0" "03316" "RB1_001422" "g.48937064dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362928dup" "" "pathogenic" ""
"0000485898" "0" "55" "13" "49030376" "49030376" "subst" "0" "03316" "RB1_001423" "g.49030376T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456240T>C" "" "VUS" ""
"0000485899" "0" "55" "13" "49030468" "49030468" "del" "0" "03316" "RB1_001424" "g.49030468del" "" "{DB-RB1}" "" "1943delC" "" "SUMMARY record" "" "" "0" "" "" "g.48456332del" "" "VUS" ""
"0000485900" "0" "55" "13" "48937003" "48937004" "dup" "0" "03316" "RB1_001425" "g.48937003_48937004dup" "" "{DB-RB1}" "" "771_772insAG" "" "SUMMARY record" "" "" "0" "" "" "g.48362867_48362868dup" "" "VUS" ""
"0000485901" "0" "55" "13" "48916772" "48916772" "del" "0" "03316" "RB1_001426" "g.48916772del" "" "{DB-RB1}" "" "302delT" "" "SUMMARY record" "" "" "0" "" "" "g.48342636del" "" "VUS" ""
"0000485902" "0" "55" "13" "48947619" "48947619" "subst" "1.2238E-5" "03316" "RB1_001427" "g.48947619C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373483C>T" "" "VUS" ""
"0000485903" "0" "55" "13" "49030428" "49030437" "dup" "0" "03316" "RB1_001428" "g.49030428_49030437dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456292_48456301dup" "" "VUS" ""
"0000485904" "0" "55" "13" "49027165" "49027165" "del" "0" "03316" "RB1_001429" "g.49027165del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453029del" "" "VUS" ""
"0000485905" "0" "55" "13" "49037873" "49037875" "del" "0" "03316" "RB1_001430" "g.49037873_49037875del" "" "{DB-RB1}" "" "2113_2115delATG" "" "SUMMARY record" "" "" "0" "" "" "g.48463737_48463739del" "" "VUS" ""
"0000485906" "0" "11" "13" "49039478" "49039478" "subst" "4.46955E-5" "03316" "RB1_001431" "g.49039478A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465342A>G" "" "benign" ""
"0000485907" "0" "99" "13" "49037879" "49037879" "subst" "0" "03316" "RB1_001432" "g.49037879T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463743T>C" "" "pathogenic" ""
"0000485908" "0" "55" "13" "48937089" "48937089" "subst" "0" "03316" "RB1_001433" "g.48937089A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362953A>G" "" "VUS" ""
"0000485909" "0" "55" "13" "48939082" "48939082" "subst" "0" "03316" "RB1_001434" "g.48939082T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364946T>G" "" "VUS" ""
"0000485910" "0" "55" "13" "48955522" "48955522" "del" "0" "03316" "RB1_001436" "g.48955522?" "" "{DB-RB1}" "" "1638delT" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485911" "0" "55" "13" "49030339" "49030339" "subst" "0" "03316" "RB1_001438" "g.49030339G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456203G>T" "" "VUS" ""
"0000485912" "0" "55" "13" "49030479" "49030479" "subst" "0" "03316" "RB1_001439" "g.49030479A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456343A>T" "" "VUS" ""
"0000485913" "0" "55" "13" "49033936" "49033936" "subst" "0" "03316" "RB1_001440" "g.49033936G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459800G>T" "" "VUS" ""
"0000485914" "0" "55" "13" "49037970" "49037970" "del" "0" "03316" "RB1_001441" "g.49037970del" "" "{DB-RB1}" "" "2211delA" "" "SUMMARY record" "" "" "0" "" "" "g.48463834del" "" "VUS" ""
"0000485915" "0" "99" "13" "49033956" "49033959" "del" "0" "03316" "RB1_001442" "g.49033956_49033959del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459820_48459823del" "" "pathogenic" ""
"0000485916" "0" "55" "13" "48878049" "48878049" "subst" "0" "03316" "RB1_001443" "g.48878049A>G" "" "{DB-RB1}" "" "p.Met1Val" "" "SUMMARY record" "" "" "0" "" "" "g.48303913A>G" "" "VUS" ""
"0000485917" "0" "55" "13" "48942736" "48942736" "subst" "0" "03316" "RB1_001444" "g.48942736G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368600G>T" "" "VUS" ""
"0000485918" "0" "55" "13" "48947553" "48947553" "subst" "0.000166979" "03316" "RB1_001445" "g.48947553C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373417C>T" "" "VUS" ""
"0000485919" "0" "55" "13" "48881439" "48881439" "subst" "0" "03316" "RB1_001446" "g.48881439A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307303A>G" "" "VUS" ""
"0000485920" "0" "33" "13" "48878079" "48878081" "dup" "0" "03316" "RB1_001447" "g.48878079_48878081dup" "" "{DB-RB1}" "" "31_33dupGCC" "" "SUMMARY record" "" "" "0" "" "" "g.48303943_48303945dup" "" "likely benign" ""
"0000485921" "0" "33" "13" "48878126" "48878128" "del" "0" "03316" "RB1_001448" "g.48878126_48878128del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303990_48303992del" "" "likely benign" ""
"0000485922" "0" "55" "13" "48881516" "48881516" "subst" "8.12559E-6" "03316" "RB1_001449" "g.48881516A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307380A>G" "" "VUS" ""
"0000485923" "0" "55" "13" "48941739" "48941739" "subst" "0" "03316" "RB1_001450" "g.48941739G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367603G>T" "" "VUS" ""
"0000485924" "0" "33" "13" "49039470" "49039470" "subst" "9.3439E-5" "03316" "RB1_001451" "g.49039470C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465334C>T" "" "likely benign" ""
"0000485925" "0" "55" "13" "48947585" "48947585" "subst" "0" "03316" "RB1_001452" "g.48947585C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373449C>T" "" "VUS" ""
"0000485926" "0" "55" "13" "48954326" "48954326" "subst" "0" "03316" "RB1_001453" "g.48954326C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380190C>T" "" "VUS" ""
"0000485927" "0" "55" "13" "48878051" "48878051" "subst" "0" "03316" "RB1_001455" "g.48878051G>C" "" "{DB-RB1}" "" "p.Met1Ile" "" "SUMMARY record" "" "" "0" "" "" "g.48303915G>C" "" "VUS" ""
"0000485928" "0" "33" "13" "48878116" "48878116" "subst" "0" "03316" "RB1_001456" "g.48878116C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303980C>T" "" "likely benign" ""
"0000485929" "0" "55" "13" "48934194" "48934194" "subst" "0" "03316" "RB1_001457" "g.48934194C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360058C>T" "" "VUS" ""
"0000485930" "0" "55" "13" "49033892" "49033892" "del" "0" "03316" "RB1_001458" "g.49033892del" "" "{DB-RB1}" "" "2029delG" "" "SUMMARY record" "" "" "0" "" "" "g.48459756del" "" "VUS" ""
"0000485931" "0" "77" "13" "49030485" "49030485" "subst" "0" "03316" "RB1_001459" "g.49030485G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456349G>T" "" "likely pathogenic" ""
"0000485932" "0" "55" "13" "48878164" "48878164" "del" "0" "03316" "RB1_001460" "g.48878164del" "" "{DB-RB1}" "" "115delC" "" "SUMMARY record" "" "" "0" "" "" "g.48304028del" "" "VUS" ""
"0000485933" "0" "55" "13" "48941630" "48941630" "subst" "0" "03316" "RB1_001461" "g.48941630G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367494G>A" "" "VUS" ""
"0000485934" "0" "99" "13" "48942737" "48942737" "subst" "0" "03316" "RB1_001463" "g.48942737T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368601T>G" "" "pathogenic" ""
"0000485935" "0" "55" "13" "48934180" "48934180" "del" "0" "03316" "RB1_001464" "g.48934180del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360044del" "" "VUS" ""
"0000485936" "0" "99" "13" "49027169" "49027169" "del" "0" "03316" "RB1_001465" "g.49027169del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453033del" "" "pathogenic" ""
"0000485937" "0" "99" "13" "48881546" "48881546" "subst" "0" "03316" "RB1_001466" "g.48881546A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307410A>G" "" "pathogenic" ""
"0000485938" "0" "99" "13" "48936955" "48936962" "dup" "0" "03316" "RB1_001467" "g.48936955_48936962dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362819_48362826dup" "" "pathogenic" ""
"0000485939" "0" "55" "13" "48923093" "48923160" "del" "0" "03316" "RB1_001468" "g.48923093_48923160del" "" "{DB-RB1}" "" "540_607del" "" "SUMMARY record" "" "" "0" "" "" "g.48348957_48349024del" "" "VUS" ""
"0000485940" "0" "55" "13" "49047496" "49051540" "del" "0" "03316" "RB1_001469" "g.49047496_49051540del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473360_48477404del" "" "VUS" ""
"0000485941" "0" "55" "13" "48952341" "48952341" "del" "0" "03316" "RB1_001470" "g.48952341del" "" "{DB-RB1}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485942" "0" "99" "13" "48939084" "48939101" "del" "0" "03316" "RB1_001471" "g.48939084_48939101del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364948_48364965del" "" "pathogenic" ""
"0000485943" "0" "55" "13" "49037929" "49039459" "del" "0" "03316" "RB1_001472" "g.49037929_49039459del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463793_48465323del" "" "VUS" ""
"0000485944" "0" "55" "13" "48941628" "48941628" "subst" "0" "03316" "RB1_001473" "g.48941628A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367492A>T" "" "VUS" ""
"0000485945" "0" "55" "13" "48881544" "48881544" "subst" "0" "03316" "RB1_001474" "g.48881544T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307408T>C" "" "VUS" ""
"0000485946" "0" "55" "13" "48916734" "48916734" "subst" "0" "03316" "RB1_001475" "g.48916734G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342598G>A" "" "VUS" ""
"0000485947" "0" "55" "13" "48916734" "48916734" "subst" "0" "03316" "RB1_001476" "g.48916734G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342598G>T" "" "VUS" ""
"0000485948" "0" "55" "13" "48941741" "48941741" "subst" "0" "03316" "RB1_001477" "g.48941741T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367605T>A" "" "VUS" ""
"0000485949" "0" "55" "13" "48947539" "48947539" "subst" "0" "03316" "RB1_001478" "g.48947539A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373403A>G" "" "VUS" ""
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"0000485964" "0" "55" "13" "48881461" "48881461" "subst" "0" "03316" "RB1_001494" "g.48881461T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307325T>A" "" "VUS" ""
"0000485965" "0" "55" "13" "48881503" "48881503" "subst" "0" "03316" "RB1_001495" "g.48881503G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307367G>A" "" "VUS" ""
"0000485966" "0" "55" "13" "48881512" "48881512" "subst" "0" "03316" "RB1_001496" "g.48881512G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307376G>A" "" "VUS" ""
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"0000485969" "0" "99" "13" "49030462" "49030465" "del" "0" "03316" "RB1_001499" "g.49030462_49030465del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456326_48456329del" "" "pathogenic" ""
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"0000485971" "0" "55" "13" "49033850" "49033851" "ins" "0" "03316" "RB1_001502" "g.49033850_49033851insN[19]" "" "{DB-RB1}" "" "1988ins19" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
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"0000485978" "0" "55" "13" "48936949" "48936949" "subst" "0" "03316" "RB1_001509" "g.48936949A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362813A>G" "" "VUS" ""
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"0000485981" "0" "55" "13" "48955573" "48955573" "subst" "0" "03316" "RB1_001512" "g.48955573G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381437G>A" "" "VUS" ""
"0000485982" "0" "55" "13" "49027133" "49027133" "subst" "0" "03316" "RB1_001513" "g.49027133C>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48452997C>A" "" "VUS" ""
"0000485983" "0" "55" "13" "49027160" "49027160" "subst" "0" "03316" "RB1_001514" "g.49027160C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453024C>G" "" "VUS" ""
"0000485984" "0" "55" "13" "49039190" "49039190" "subst" "0" "03316" "RB1_001515" "g.49039190T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465054T>A" "" "VUS" ""
"0000485985" "0" "55" "13" "49039501" "49039501" "subst" "0" "03316" "RB1_001516" "g.49039501C>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465365C>A" "" "VUS" ""
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"0000485988" "0" "55" "13" "48878172" "48878172" "del" "0" "03316" "RB1_001520" "g.48878172del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48304036del" "" "VUS" ""
"0000485989" "0" "55" "13" "48881505" "48881505" "del" "0" "03316" "RB1_001521" "g.48881505del" "" "{DB-RB1}" "" "227delT" "" "SUMMARY record" "" "" "0" "" "" "g.48307369del" "" "VUS" ""
"0000485990" "0" "55" "13" "48881417" "48881543" "del" "0" "03316" "RB1_001522" "g.48881417_48881543del" "" "{DB-RB1}" "" "138_264del" "" "SUMMARY record" "" "" "0" "" "" "g.48307281_48307407del" "" "VUS" ""
"0000485991" "0" "55" "13" "48916806" "48916810" "del" "0" "03316" "RB1_001523" "g.48916806_48916810del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342670_48342674del" "" "VUS" ""
"0000485992" "0" "55" "13" "48916816" "48916819" "del" "0" "03316" "RB1_001524" "g.48916816_48916819del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342680_48342683del" "" "VUS" ""
"0000485993" "0" "55" "13" "48919247" "48919247" "dup" "0" "03316" "RB1_001526" "g.48919247dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345111dup" "" "VUS" ""
"0000485994" "0" "55" "13" "48919319" "48919320" "delins" "0" "03316" "RB1_001527" "g.48919319_48919320delinsN[?]" "" "{DB-RB1}" "" "484_485delTTins" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000485995" "0" "55" "13" "48919329" "48919329" "del" "0" "03316" "RB1_001528" "g.48919329del" "" "{DB-RB1}" "" "493del" "" "SUMMARY record" "" "" "0" "" "" "g.48345193del" "" "VUS" ""
"0000485996" "0" "55" "13" "48923094" "48923094" "dup" "0" "03316" "RB1_001529" "g.48923094dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48348958dup" "" "VUS" ""
"0000485997" "0" "55" "13" "48923135" "48923135" "dup" "0" "03316" "RB1_001530" "g.48923135dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48348999dup" "" "VUS" ""
"0000485998" "0" "55" "13" "48934193" "48934193" "del" "0" "03316" "RB1_001531" "g.48934193del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360057del" "" "VUS" ""
"0000485999" "0" "55" "13" "48937031" "48937068" "del" "0" "03316" "RB1_001532" "g.48937031_48937068del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362895_48362932del" "" "VUS" ""
"0000486000" "0" "55" "13" "48955522" "48955522" "del" "0" "03316" "RB1_001533" "g.48955522del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381386del" "" "VUS" ""
"0000486001" "0" "55" "13" "48877857" "48877857" "subst" "0" "03316" "RB1_001534" "g.48877857G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303721G>A" "" "VUS" ""
"0000486002" "0" "55" "13" "49037968" "49037968" "subst" "0" "03316" "RB1_001535" "g.49037968?" "" "{DB-RB1}" "" "2208C>T" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000486003" "0" "55" "13" "48954300" "48954300" "" "0" "03316" "RB1_001536" "g.48954300?" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
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"0000486005" "0" "55" "13" "48934247" "48934247" "subst" "0" "03316" "RB1_001538" "g.48934247?" "" "{DB-RB1}" "" "702T>A" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000486006" "0" "55" "13" "48947562" "48947562" "subst" "0" "03316" "RB1_001539" "g.48947562?" "" "{DB-RB1}" "" "1149C>T" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000486007" "0" "55" "13" "48937057" "48937057" "subst" "0" "03316" "RB1_001540" "g.48937057?" "" "{DB-RB1}" "" "825G>T" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000486008" "0" "55" "13" "49039505" "49039505" "subst" "0" "03316" "RB1_001541" "g.49039505G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465369G>A" "" "VUS" ""
"0000486009" "0" "55" "13" "48939046" "48939046" "dup" "0" "03316" "RB1_001542" "g.48939046dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364910dup" "" "VUS" ""
"0000486010" "0" "55" "13" "48939052" "48939052" "dup" "0" "03316" "RB1_001543" "g.48939052dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364916dup" "" "VUS" ""
"0000486011" "0" "55" "13" "48941660" "48941660" "dup" "0" "03316" "RB1_001544" "g.48941660dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48367524dup" "" "VUS" ""
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"0000486014" "0" "55" "13" "48947603" "48947603" "del" "0" "03316" "RB1_001547" "g.48947603del" "" "{DB-RB1}" "" "1190delC" "" "SUMMARY record" "" "" "0" "" "" "g.48373467del" "" "VUS" ""
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"0000486016" "0" "55" "13" "48951106" "48951106" "dup" "0" "03316" "RB1_001550" "g.48951106dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48376970dup" "" "VUS" ""
"0000486017" "0" "55" "13" "48951159" "48951159" "dup" "0" "03316" "RB1_001551" "g.48951159dup" "" "{DB-RB1}" "" "1319dup" "" "SUMMARY record" "" "" "0" "" "" "g.48377023dup" "" "VUS" ""
"0000486018" "0" "55" "13" "48951163" "48951163" "del" "0" "03316" "RB1_001552" "g.48951163del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48377027del" "" "VUS" ""
"0000486019" "0" "55" "13" "48954327" "48954327" "dup" "0" "03316" "RB1_001554" "g.48954327dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380191dup" "" "VUS" ""
"0000486020" "0" "55" "13" "48954326" "48954327" "del" "0" "03316" "RB1_001556" "g.48954326_48954327del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380190_48380191del" "" "VUS" ""
"0000486021" "0" "55" "13" "48954331" "48954332" "del" "0" "03316" "RB1_001557" "g.48954331_48954332del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380195_48380196del" "" "VUS" ""
"0000486022" "0" "55" "13" "48954365" "48954366" "ins" "0" "03316" "RB1_001558" "g.48954365_48954366insT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380229_48380230insT" "" "VUS" ""
"0000486023" "0" "55" "13" "48955469" "48955469" "del" "0" "03316" "RB1_001560" "g.48955469del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381333del" "" "VUS" ""
"0000486024" "0" "55" "13" "48955543" "48955558" "del" "0" "03316" "RB1_001561" "g.48955543_48955558del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381407_48381422del" "" "VUS" ""
"0000486025" "0" "55" "13" "49027150" "49027150" "dup" "0" "03316" "RB1_001562" "g.49027150dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453014dup" "" "VUS" ""
"0000486026" "0" "55" "13" "49033844" "49033847" "del" "0" "03316" "RB1_001565" "g.49033844_49033847del" "" "{DB-RB1}" "" "1980_1983delCCG" "" "SUMMARY record" "" "" "0" "" "" "g.48459708_48459711del" "" "VUS" ""
"0000486027" "0" "33" "13" "48881451" "48881451" "subst" "3.25121E-5" "03316" "RB1_001566" "g.48881451C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307315C>T" "" "likely benign" ""
"0000486028" "0" "33" "13" "48881453" "48881453" "subst" "4.06395E-6" "03316" "RB1_001567" "g.48881453G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307317G>C" "" "likely benign" ""
"0000486029" "0" "99" "13" "48916850" "48916850" "subst" "0" "03316" "RB1_001568" "g.48916850G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342714G>T" "" "pathogenic" ""
"0000486030" "0" "55" "13" "48942715" "48942715" "subst" "0" "03316" "RB1_001569" "g.48942715G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368579G>A" "" "VUS" ""
"0000486031" "0" "55" "13" "48947572" "48947572" "subst" "4.07219E-6" "03316" "RB1_001570" "g.48947572A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373436A>T" "" "VUS" ""
"0000486032" "0" "55" "13" "48951170" "48951170" "subst" "0" "03316" "RB1_001571" "g.48951170G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48377034G>T" "" "VUS" ""
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"0000486200" "0" "55" "13" "48919308" "48919308" "del" "0" "03316" "RB1_001751" "g.48919308del" "" "{DB-RB1}" "" "473delT" "" "SUMMARY record" "" "" "0" "" "" "g.48345172del" "" "VUS" ""
"0000486201" "0" "55" "13" "49033877" "49033877" "subst" "0" "03316" "RB1_001752" "g.49033877G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459741G>T" "" "VUS" ""
"0000486202" "0" "55" "13" "49030339" "49030339" "subst" "0" "03316" "RB1_001753" "g.49030339G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456203G>C" "" "VUS" ""
"0000486203" "0" "55" "13" "48881485" "48881485" "subst" "4.0626E-6" "03316" "RB1_001754" "g.48881485T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307349T>C" "" "VUS" ""
"0000486204" "0" "55" "13" "49039169" "49039169" "subst" "0" "03316" "RB1_001755" "g.49039169T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465033T>G" "" "VUS" ""
"0000486205" "0" "55" "13" "49039488" "49039488" "dup" "0" "03316" "RB1_001756" "g.49039488dup" "" "{DB-RB1}" "" "2473-74insA" "" "SUMMARY record" "" "" "0" "" "" "g.48465352dup" "" "VUS" ""
"0000486206" "0" "55" "13" "48923127" "48923128" "del" "0" "03316" "RB1_001757" "g.48923127_48923128del" "" "{DB-RB1}" "" "575_576delAA" "" "SUMMARY record" "" "" "0" "" "" "g.48348991_48348992del" "" "VUS" ""
"0000486207" "0" "55" "13" "49039493" "49039501" "del" "0" "03316" "RB1_001758" "g.49039493_49039501del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465357_48465365del" "" "VUS" ""
"0000486208" "0" "55" "13" "49039357" "49039357" "del" "0" "03316" "RB1_001759" "g.49039357del" "" "{DB-RB1}" "" "2342delC" "" "SUMMARY record" "" "" "0" "" "" "g.48465221del" "" "VUS" ""
"0000486209" "0" "55" "13" "49039345" "49039345" "dup" "0" "03316" "RB1_001760" "g.49039345dup" "" "{DB-RB1}" "" "2330dupC" "" "SUMMARY record" "" "" "0" "" "" "g.48465209dup" "" "VUS" ""
"0000486210" "0" "55" "13" "49039354" "49039354" "subst" "0" "03316" "RB1_001761" "g.49039354C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465218C>G" "" "VUS" ""
"0000486211" "0" "99" "13" "49037966" "49037966" "subst" "0" "03316" "RB1_001762" "g.49037966C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463830C>T" "" "pathogenic" ""
"0000486212" "0" "99" "13" "49039159" "49039163" "dup" "0" "03316" "RB1_001763" "g.49039159_49039163dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465023_48465027dup" "" "pathogenic" ""
"0000486213" "0" "55" "13" "49039351" "49039351" "dup" "0" "03316" "RB1_001764" "g.49039351dup" "" "{DB-RB1}" "" "2336_2337insT" "" "SUMMARY record" "" "" "0" "" "" "g.48465215dup" "" "VUS" ""
"0000486214" "0" "55" "13" "49039164" "49039167" "del" "0" "03316" "RB1_001765" "g.49039164_49039167del" "" "{DB-RB1}" "" "2242_2245delGAGT" "" "SUMMARY record" "" "" "0" "" "" "g.48465028_48465031del" "" "VUS" ""
"0000486215" "0" "55" "13" "49039443" "49039443" "subst" "0" "03316" "RB1_001766" "g.49039443A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465307A>T" "" "VUS" ""
"0000486216" "0" "55" "13" "49047515" "49047515" "subst" "0" "03316" "RB1_001768" "g.49047515G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473379G>T" "" "VUS" ""
"0000486217" "0" "55" "13" "49050980" "49050980" "subst" "0" "03316" "RB1_001769" "g.49050980G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476844G>T" "" "VUS" ""
"0000486218" "0" "55" "13" "49050906" "49050906" "subst" "0" "03316" "RB1_001770" "g.49050906G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476770G>T" "" "VUS" ""
"0000486219" "0" "33" "13" "49039262" "49039262" "subst" "0" "03316" "RB1_001771" "g.49039262A>G" "" "{DB-RB1}" "" "2264_2265ins11" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" ""
"0000486220" "0" "55" "13" "48955424" "48955424" "subst" "0" "03316" "RB1_001772" "g.48955424T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381288T>C" "" "VUS" ""
"0000486221" "0" "55" "13" "49039383" "49039383" "del" "0" "03316" "RB1_001773" "g.49039383del" "" "{DB-RB1}" "" "2368delT" "" "SUMMARY record" "" "" "0" "" "" "g.48465247del" "" "VUS" ""
"0000486222" "0" "55" "13" "49051024" "49051024" "subst" "0.00012233" "03316" "RB1_001774" "g.49051024C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476888C>T" "" "VUS" ""
"0000486223" "0" "11" "13" "48878100" "48878128" "dup" "0" "03316" "RB1_001775" "g.48878100_48878128dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303964_48303992dup" "" "benign" ""
"0000486224" "0" "55" "13" "48954327" "48954327" "del" "0" "03316" "RB1_001776" "g.48954327del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380191del" "" "VUS" ""
"0000486225" "0" "55" "13" "49027250" "49027250" "subst" "0" "03316" "RB1_001777" "g.49027250A>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453114A>C" "" "VUS" ""
"0000486226" "0" "55" "13" "49033832" "49033844" "delins" "0" "03316" "RB1_001778" "g.49033832_49033844delinsT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459696_48459708delinsT" "" "VUS" ""
"0000486227" "0" "55" "13" "49037951" "49037951" "del" "0" "03316" "RB1_001779" "g.49037951del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463815del" "" "VUS" ""
"0000486228" "0" "55" "13" "48939037" "48939037" "del" "0" "03316" "RB1_001780" "g.48939037del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48364901del" "" "VUS" ""
"0000486229" "0" "55" "13" "48951144" "48951144" "subst" "0.000736419" "03316" "RB1_001781" "g.48951144C>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48377008C>A" "" "VUS" ""
"0000486230" "0" "55" "13" "48953735" "48953735" "subst" "0" "03316" "RB1_001782" "g.48953735C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379599C>G" "" "VUS" ""
"0000486231" "0" "55" "13" "49039296" "49039296" "subst" "0" "03316" "RB1_001783" "g.49039296A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465160A>G" "" "VUS" ""
"0000486232" "0" "55" "13" "48954314" "48954314" "del" "0" "03316" "RB1_001784" "g.48954314del" "" "{DB-RB1}" "" "1435delG" "" "SUMMARY record" "" "" "0" "" "" "g.48380178del" "" "VUS" ""
"0000486233" "0" "55" "13" "48955516" "48955516" "subst" "0.000522696" "03316" "RB1_001785" "g.48955516A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381380A>G" "" "VUS" ""
"0000486234" "0" "55" "13" "49039314" "49039314" "subst" "0" "03316" "RB1_001786" "g.49039314T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465178T>C" "" "VUS" ""
"0000486235" "0" "55" "13" "48919257" "48919258" "del" "0" "03316" "RB1_001787" "g.48919257_48919258del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345121_48345122del" "" "VUS" ""
"0000486236" "0" "55" "13" "49027155" "49027155" "dup" "0" "03316" "RB1_001788" "g.49027155dup" "" "{DB-RB1}" "" "1722insA" "" "SUMMARY record" "" "" "0" "" "" "g.48453019dup" "" "VUS" ""
"0000486237" "0" "55" "13" "48881457" "48881457" "dup" "0" "03316" "RB1_001789" "g.48881457dup" "" "{DB-RB1}" "" "177_178insT" "" "SUMMARY record" "" "" "0" "" "" "g.48307321dup" "" "VUS" ""
"0000486238" "0" "55" "13" "48916768" "48916768" "subst" "0" "03316" "RB1_001790" "g.48916768G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342632G>T" "" "VUS" ""
"0000486239" "0" "55" "13" "49033971" "49033971" "subst" "0" "03316" "RB1_001791" "g.49033971T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459835T>G" "" "VUS" ""
"0000486240" "0" "55" "13" "48939031" "48939032" "ins" "0" "03316" "RB1_001792" "g.48939031_48939032insA" "" "{DB-RB1}" "" "864insA" "" "SUMMARY record" "" "" "0" "" "" "g.48364895_48364896insA" "" "VUS" ""
"0000486241" "0" "55" "13" "48878187" "48878187" "subst" "0" "03316" "RB1_001793" "g.48878187G>A" "" "{DB-RB1}" "" "2196+2G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000486242" "0" "55" "13" "49039133" "49039134" "del" "0" "03316" "RB1_001794" "g.49039133_49039134del" "" "{DB-RB1}" "" "2212-1_2212-2del" "" "SUMMARY record" "" "" "0" "" "" "g.48464997_48464998del" "" "VUS" ""
"0000486243" "0" "55" "13" "49039345" "49039346" "del" "0" "03316" "RB1_001795" "g.49039345_49039346del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465209_48465210del" "" "VUS" ""
"0000486244" "0" "55" "13" "49033824" "49033969" "del" "0" "03316" "RB1_001796" "g.49033824_49033969del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459688_48459833del" "" "VUS" ""
"0000486245" "0" "55" "13" "49039361" "49039361" "del" "0" "03316" "RB1_001797" "g.49039361del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465225del" "" "VUS" ""
"0000486246" "0" "55" "13" "49037922" "49037922" "dup" "0" "03316" "RB1_001798" "g.49037922dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463786dup" "" "VUS" ""
"0000486247" "0" "55" "13" "49039205" "49039205" "del" "0" "03316" "RB1_001799" "g.49039205del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465069del" "" "VUS" ""
"0000486248" "0" "55" "13" "49039384" "49039385" "ins" "0" "03316" "RB1_001800" "g.49039384_49039385insT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465248_48465249insT" "" "VUS" ""
"0000486249" "0" "55" "13" "49039405" "49039421" "del" "0" "03316" "RB1_001802" "g.49039405_49039421del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465269_48465285del" "" "VUS" ""
"0000486250" "0" "55" "13" "49047501" "49047501" "del" "0" "03316" "RB1_001803" "g.49047501del" "" "{DB-RB1}" "" "2495delT" "" "SUMMARY record" "" "" "0" "" "" "g.48473365del" "" "VUS" ""
"0000486251" "0" "55" "13" "49047496" "49047526" "del" "0" "03316" "RB1_001804" "g.49047496_49047526del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473360_48473390del" "" "VUS" ""
"0000486252" "0" "55" "13" "49050885" "49050885" "dup" "0" "03316" "RB1_001806" "g.49050885dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476749dup" "" "VUS" ""
"0000486253" "0" "55" "13" "48936951" "48936956" "del" "0" "03316" "RB1_001807" "g.48936951_48936956del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362815_48362820del" "" "VUS" ""
"0000486254" "0" "55" "13" "48947576" "48947576" "subst" "1.2216E-5" "03316" "RB1_001808" "g.48947576T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373440T>G" "" "VUS" ""
"0000486255" "0" "55" "13" "48947587" "48947587" "subst" "4.07398E-6" "03316" "RB1_001809" "g.48947587G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373451G>A" "" "VUS" ""
"0000486256" "0" "55" "13" "48954215" "48954216" "ins" "0" "03316" "RB1_001810" "g.48954215_48954216insAAA" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380079_48380080insAAA" "" "VUS" ""
"0000486257" "0" "55" "13" "49027140" "49027140" "subst" "0" "03316" "RB1_001811" "g.49027140A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453004A>T" "" "VUS" ""
"0000486258" "0" "55" "13" "49037895" "49037942" "del" "0" "03316" "RB1_001812" "g.49037895_49037942del" "" "{DB-RB1}" "" "2133_2180del" "" "SUMMARY record" "" "" "0" "" "" "g.48463759_48463806del" "" "VUS" ""
"0000486259" "0" "55" "13" "49037943" "49037943" "subst" "0" "03316" "RB1_001813" "g.49037943A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463807A>G" "" "VUS" ""
"0000486260" "0" "55" "13" "49039183" "49039183" "subst" "0" "03316" "RB1_001814" "g.49039183T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465047T>G" "" "VUS" ""
"0000486261" "0" "55" "13" "49050882" "49050882" "subst" "0.000223519" "03316" "RB1_001815" "g.49050882G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476746G>A" "" "VUS" ""
"0000486262" "0" "55" "13" "49050942" "49050942" "subst" "2.84444E-5" "03316" "RB1_001816" "g.49050942C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476806C>T" "" "VUS" ""
"0000486263" "0" "55" "13" "49051514" "49051516" "del" "0" "03316" "RB1_001817" "g.49051514_49051516del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48477378_48477380del" "" "VUS" ""
"0000486264" "0" "55" "13" "49027122" "49027122" "subst" "4.08253E-6" "03316" "RB1_001818" "g.49027122C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48452986C>T" "" "VUS" ""
"0000486265" "0" "55" "13" "49027125" "49027125" "subst" "4.0795E-6" "03316" "RB1_001819" "g.49027125A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48452989A>G" "" "VUS" ""
"0000486266" "0" "55" "13" "49047530" "49047530" "dup" "0" "03316" "RB1_001820" "g.49047530dup" "" "{DB-RB1}" "" "2520+3delGinsGA" "" "SUMMARY record" "" "" "0" "" "" "g.48473394dup" "" "VUS" ""
"0000486267" "0" "55" "13" "48881455" "48881455" "subst" "4.06369E-6" "03316" "RB1_001821" "g.48881455A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48307319A>T" "" "VUS" ""
"0000486268" "0" "55" "13" "48947586" "48947586" "subst" "0" "03316" "RB1_001822" "g.48947586A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373450A>T" "" "VUS" ""
"0000486269" "0" "55" "13" "49033924" "49033924" "subst" "4.06055E-6" "03316" "RB1_001823" "g.49033924C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459788C>T" "" "VUS" ""
"0000486270" "0" "55" "13" "49047523" "49047523" "subst" "8.15036E-6" "03316" "RB1_001824" "g.49047523C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473387C>T" "" "VUS" ""
"0000486271" "0" "55" "13" "48881379" "48881384" "del" "0" "03316" "RB1_001825" "g.48881379_48881384del" "" "{DB-RB1}" "" "138-41_138-36del" "" "SUMMARY record" "" "" "0" "" "" "g.48307243_48307248del" "" "VUS" ""
"0000486272" "0" "55" "13" "48881592" "48881592" "dup" "0" "03316" "RB1_001826" "g.48881592dup" "" "{DB-RB1}" "" "264+46dupA" "" "SUMMARY record" "" "" "0" "" "" "g.48307456dup" "" "VUS" ""
"0000486273" "0" "55" "13" "48919133" "48919133" "del" "0" "03316" "RB1_001827" "g.48919133del" "" "{DB-RB1}" "" "381-83delA" "" "SUMMARY record" "" "" "0" "" "" "g.48344997del" "" "VUS" ""
"0000486274" "0" "55" "13" "48919139" "48919139" "del" "0" "03316" "RB1_001828" "g.48919139del" "" "{DB-RB1}" "" "381-77delA" "" "SUMMARY record" "" "" "0" "" "" "g.48345003del" "" "VUS" ""
"0000486275" "0" "55" "13" "48919417" "48919417" "subst" "0" "03316" "RB1_001829" "g.48919417A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345281A>G" "" "VUS" ""
"0000486276" "0" "55" "13" "48921861" "48921861" "del" "0" "03316" "RB1_001830" "g.48921861del" "" "{DB-RB1}" "" "501-100delA" "" "SUMMARY record" "" "" "0" "" "" "g.48347725del" "" "VUS" ""
"0000486277" "0" "55" "13" "48922993" "48922993" "subst" "0" "03316" "RB1_001831" "g.48922993T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48348857T>A" "" "VUS" ""
"0000486278" "0" "55" "13" "48922995" "48922996" "ins" "0" "03316" "RB1_001832" "g.48922995_48922996insT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48348859_48348860insT" "" "VUS" ""
"0000486279" "0" "55" "13" "48923057" "48923057" "dup" "0" "03316" "RB1_001833" "g.48923057dup" "" "{DB-RB1}" "" "540-40_540-39insT" "" "SUMMARY record" "" "" "0" "" "" "g.48348921dup" "" "VUS" ""
"0000486280" "0" "55" "13" "48923179" "48923179" "del" "0" "03316" "RB1_001834" "g.48923179del" "" "{DB-RB1}" "" "607+19delT" "" "SUMMARY record" "" "" "0" "" "" "g.48349043del" "" "VUS" ""
"0000486281" "0" "55" "13" "48923193" "48923193" "del" "0" "03316" "RB1_001835" "g.48923193del" "" "{DB-RB1}" "" "607+32delT" "" "SUMMARY record" "" "" "0" "" "" "g.48349057del" "" "VUS" ""
"0000486282" "0" "55" "13" "48934062" "48934062" "subst" "0" "03316" "RB1_001836" "g.48934062T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48359926T>C" "" "VUS" ""
"0000486283" "0" "55" "13" "48934134" "48934134" "del" "0" "03316" "RB1_001837" "g.48934134del" "" "{DB-RB1}" "" "608-19delA" "" "SUMMARY record" "" "" "0" "" "" "g.48359998del" "" "VUS" ""
"0000486284" "0" "55" "13" "48947512" "48947512" "del" "0" "03316" "RB1_001838" "g.48947512del" "" "{DB-RB1}" "" "1128-29delA" "" "SUMMARY record" "" "" "0" "" "" "g.48373376del" "" "VUS" ""
"0000486285" "0" "55" "13" "48951025" "48951025" "subst" "0.00597038" "03316" "RB1_001839" "g.48951025A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48376889A>G" "" "VUS" ""
"0000486286" "0" "55" "13" "48954229" "48954229" "subst" "0" "03316" "RB1_001840" "g.48954229T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380093T>C" "" "VUS" ""
"0000486287" "0" "55" "13" "49030330" "49030330" "del" "0" "03316" "RB1_001841" "g.49030330del" "" "{DB-RB1}" "" "1815-10delA" "" "SUMMARY record" "" "" "0" "" "" "g.48456194del" "" "VUS" ""
"0000486288" "0" "55" "13" "49039118" "49039118" "dup" "0" "03316" "RB1_001842" "g.49039118dup" "" "{DB-RB1}" "" "2212-16dupT" "" "SUMMARY record" "" "" "0" "" "" "g.48464982dup" "" "VUS" ""
"0000486289" "0" "55" "13" "49039107" "49039118" "del" "0" "03316" "RB1_001843" "g.49039107_49039118del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48464971_48464982del" "" "VUS" ""
"0000486290" "0" "55" "13" "49039120" "49039120" "subst" "0.0616951" "03316" "RB1_001844" "g.49039120C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48464984C>T" "" "VUS" ""
"0000486291" "0" "55" "13" "49054116" "49054116" "subst" "8.24559E-6" "03316" "RB1_001845" "g.49054116T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48479980T>C" "" "VUS" ""
"0000486292" "0" "55" "13" "48919308" "48919308" "subst" "0" "03316" "RB1_001846" "g.48919308T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345172T>A" "" "VUS" ""
"0000486293" "0" "55" "13" "48919331" "48919331" "subst" "0" "03316" "RB1_001847" "g.48919331G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345195G>T" "" "VUS" ""
"0000486294" "0" "55" "13" "49037867" "49037971" "del" "0" "03316" "RB1_001849" "g.49037867_49037971del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463731_48463835del" "" "VUS" ""
"0000486295" "0" "55" "13" "49039134" "49039247" "del" "0" "03316" "RB1_001850" "g.49039134_49039247del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48464998_48465111del" "" "VUS" ""
"0000486296" "0" "99" "13" "48953779" "48953779" "subst" "0" "03316" "RB1_001851" "g.48953779T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379643T>C" "" "pathogenic" ""
"0000486297" "0" "99" "13" "49033823" "49033823" "subst" "0" "03316" "RB1_001852" "g.49033823G>C" "" "{DB-RB1}" "" "1961-1C>G" "" "SUMMARY record" "" "" "0" "" "" "g.48459687G>C" "" "pathogenic" ""
"0000486298" "0" "99" "13" "48942660" "48942662" "delins" "0" "03316" "RB1_001853" "g.48942660_48942662delinsAA" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368524_48368526delinsAA" "" "pathogenic" ""
"0000486299" "0" "55" "13" "48916761" "48916761" "subst" "4.0653E-6" "03316" "RB1_001854" "g.48916761A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48342625A>G" "" "VUS" ""
"0000486300" "0" "55" "13" "48877761" "48877761" "subst" "0" "03316" "RB1_001855" "g.48877761C>T" "" "{DB-RB1}" "" "regulatory" "" "SUMMARY record" "" "" "0" "" "" "g.48303625C>T" "" "VUS" ""
"0000486301" "0" "77" "13" "49030474" "49030474" "subst" "0" "03316" "RB1_001856" "g.49030474T>A" "" "{DB-RB1}" "" "1929_1934delins22" "" "SUMMARY record" "" "" "0" "" "" "g.48456338T>A" "" "likely pathogenic" ""
"0000486302" "0" "99" "13" "49027168" "49027168" "dup" "0" "03316" "RB1_001857" "g.49027168dup" "" "{DB-RB1}" "" "1733_1734insAdelCC" "" "SUMMARY record" "" "" "0" "" "" "g.48453032dup" "" "pathogenic" ""
"0000486303" "0" "99" "13" "48878102" "48878124" "del" "0" "03316" "RB1_001858" "g.48878102_48878124del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303966_48303988del" "" "pathogenic" ""
"0000486304" "0" "99" "13" "49033906" "49033906" "subst" "0" "03316" "RB1_001859" "g.49033906G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459770G>A" "" "pathogenic" ""
"0000486305" "0" "99" "13" "48919236" "48919236" "subst" "0" "03316" "RB1_001860" "g.48919236T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48345100T>A" "" "pathogenic" ""
"0000486306" "0" "99" "13" "49027164" "49027165" "delins" "0" "03316" "RB1_001861" "g.49027164_49027165delinsT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453028_48453029delinsT" "" "pathogenic" ""
"0000486307" "0" "99" "13" "49033842" "49033844" "dup" "0" "03316" "RB1_001862" "g.49033842_49033844dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459706_48459708dup" "" "pathogenic" ""
"0000486308" "0" "99" "13" "49027197" "49027197" "del" "0" "03316" "RB1_001863" "g.49027197del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48453061del" "" "pathogenic" ""
"0000486309" "0" "55" "13" "49033963" "49033964" "ins" "0" "03316" "RB1_001864" "g.49033963_49033964insT" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459827_48459828insT" "" "VUS" ""
"0000486310" "0" "99" "13" "49030468" "49030468" "subst" "0" "03316" "RB1_001865" "g.49030468C>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456332C>A" "" "pathogenic" ""
"0000486311" "0" "99" "13" "48936964" "48936965" "del" "0" "03316" "RB1_001866" "g.48936964_48936965del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362828_48362829del" "" "pathogenic" ""
"0000486312" "0" "99" "13" "49033958" "49033958" "del" "0" "03316" "RB1_001867" "g.49033958del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459822del" "" "pathogenic" ""
"0000486313" "0" "99" "13" "48954199" "48954201" "dup" "0" "03316" "RB1_001868" "g.48954199_48954201dup" "" "{DB-RB1}" "" "1400_402dup" "" "SUMMARY record" "" "" "0" "" "" "g.48380063_48380065dup" "" "pathogenic" ""
"0000486314" "0" "99" "13" "49039506" "49039506" "subst" "0" "03316" "RB1_001870" "g.49039506T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465370T>A" "" "pathogenic" ""
"0000486315" "0" "99" "13" "49033920" "49033943" "del" "0" "03316" "RB1_001871" "g.49033920_49033943del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459784_48459807del" "" "pathogenic" ""
"0000486316" "0" "99" "13" "48955577" "48955578" "dup" "0" "03316" "RB1_001872" "g.48955577_48955578dup" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381441_48381442dup" "" "pathogenic" ""
"0000486317" "0" "33" "13" "49030401" "49030401" "subst" "6.09142E-5" "03316" "RB1_001873" "g.49030401G>A" "" "{DB-RB1}" "" "187_205delins9" "" "SUMMARY record" "" "" "0" "" "" "g.48456265G>A" "" "likely benign" ""
"0000486318" "0" "33" "13" "49030335" "49030335" "subst" "6.10366E-5" "03316" "RB1_001874" "g.49030335T>C" "" "{DB-RB1}" "" "1762_1763ins4" "" "SUMMARY record" "" "" "0" "" "" "g.48456199T>C" "" "likely benign" ""
"0000486319" "0" "55" "13" "48937093" "48937093" "subst" "0" "03316" "RB1_001875" "g.48937093G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362957G>T" "" "VUS" ""
"0000486320" "0" "55" "13" "49050979" "49050979" "subst" "0" "03316" "RB1_001876" "g.49050979G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48476843G>A" "" "VUS" ""
"0000486321" "0" "55" "13" "48877851" "48877851" "subst" "0" "03316" "RB1_001877" "g.48877851G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48303715G>T" "" "VUS" ""
"0000486322" "0" "55" "13" "48937093" "48937093" "subst" "0" "03316" "RB1_001878" "g.48937093G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362957G>A" "" "VUS" ""
"0000486323" "0" "55" "13" "48954333" "48954333" "subst" "0" "03316" "RB1_001879" "g.48954333C>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380197C>T" "" "VUS" ""
"0000486324" "0" "55" "13" "48955569" "48955569" "subst" "0" "03316" "RB1_001880" "g.48955569C>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381433C>A" "" "VUS" ""
"0000486325" "0" "55" "13" "48955573" "48955573" "subst" "0" "03316" "RB1_001881" "g.48955573G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48381437G>C" "" "VUS" ""
"0000486326" "0" "55" "13" "48936946" "48936949" "delins" "0" "03316" "RB1_001882" "g.48936946_48936949delinsN[18]" "" "{DB-RB1}" "" "719-5_719-2delins18" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000486327" "0" "55" "13" "48942660" "48942660" "del" "0" "03316" "RB1_001884" "g.48942660del" "" "{DB-RB1}" "" "1050-3delT" "" "SUMMARY record" "" "" "0" "" "" "g.48368524del" "" "VUS" ""
"0000486328" "0" "55" "13" "48947627" "48947636" "del" "0" "03316" "RB1_001885" "g.48947627_48947636del" "" "{DB-RB1}" "" "1214_1215+8del10" "" "SUMMARY record" "" "" "0" "" "" "g.48373491_48373500del" "" "VUS" ""
"0000486329" "0" "55" "13" "48947691" "48947691" "subst" "0" "03316" "RB1_001886" "g.48947691T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48373555T>G" "" "VUS" ""
"0000486330" "0" "55" "13" "48953707" "48953717" "del" "0" "03316" "RB1_001887" "g.48953707_48953717del" "" "{DB-RB1}" "" "1333-13_1333-23del11" "" "SUMMARY record" "" "" "0" "" "" "g.48379571_48379581del" "" "VUS" ""
"0000486331" "0" "55" "13" "49027127" "49027127" "subst" "0" "03316" "RB1_001888" "g.49027127A>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48452991A>G" "" "VUS" ""
"0000486332" "0" "55" "13" "49027225" "49027252" "del" "0" "03316" "RB1_001889" "g.49027225_49027252del" "" "{DB-RB1}" "" "1792_1814+5del28" "" "SUMMARY record" "" "" "0" "" "" "g.48453089_48453116del" "" "VUS" ""
"0000486333" "0" "55" "13" "48934203" "48934209" "del" "0" "03316" "RB1_001890" "g.48934203_48934209del" "" "{DB-RB1}" "" "658_664del7" "" "SUMMARY record" "" "" "0" "" "" "g.48360067_48360073del" "" "VUS" ""
"0000486334" "0" "55" "13" "48934205" "48934206" "del" "0" "03316" "RB1_001891" "g.48934205_48934206del" "" "{DB-RB1}" "" "660_661delAT" "" "SUMMARY record" "" "" "0" "" "" "g.48360069_48360070del" "" "VUS" ""
"0000486335" "0" "55" "13" "48953787" "48953787" "subst" "0" "03316" "RB1_001892" "g.48953787G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48379651G>T" "" "VUS" ""
"0000486336" "0" "55" "13" "48954238" "48954252" "del" "0" "03316" "RB1_001893" "g.48954238_48954252del" "" "{DB-RB1}" "" "1421+18_1421+32del15" "" "SUMMARY record" "" "" "0" "" "" "g.48380102_48380116del" "" "VUS" ""
"0000486337" "0" "55" "13" "48954238" "48954253" "del" "0" "03316" "RB1_001894" "g.48954238_48954253del" "" "{DB-RB1}" "" "1421+18_1421+33del16" "" "SUMMARY record" "" "" "0" "" "" "g.48380102_48380117del" "" "VUS" ""
"0000486338" "0" "55" "13" "48954378" "48954378" "subst" "0" "03316" "RB1_001895" "g.48954378G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380242G>T" "" "VUS" ""
"0000486339" "0" "55" "13" "48954380" "48954380" "subst" "0" "03316" "RB1_001896" "g.48954380A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380244A>T" "" "VUS" ""
"0000486340" "0" "55" "13" "49030486" "49030491" "delins" "0" "03316" "RB1_001897" "g.49030486_49030491delinsN[22]" "" "{DB-RB1}" "" "1960+1_1960+6delins22" "" "SUMMARY record" "" "" "0" "" "" "" "" "VUS" ""
"0000486341" "0" "55" "13" "49030486" "49030486" "subst" "0" "03316" "RB1_001898" "g.49030486G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456350G>T" "" "VUS" ""
"0000486342" "0" "55" "13" "49033821" "49033821" "subst" "0" "03316" "RB1_001899" "g.49033821C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459685C>G" "" "VUS" ""
"0000486343" "0" "55" "13" "49037866" "49037866" "subst" "0" "03316" "RB1_001900" "g.49037866G>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463730G>C" "" "VUS" ""
"0000486344" "0" "55" "13" "49037876" "49037888" "del" "0" "03316" "RB1_001901" "g.49037876_49037888del" "" "{DB-RB1}" "" "2116_2128del13" "" "SUMMARY record" "" "" "0" "" "" "g.48463740_48463752del" "" "VUS" ""
"0000486345" "0" "55" "13" "49039239" "49039239" "del" "0" "03316" "RB1_001902" "g.49039239del" "" "{DB-RB1}" "" "2317delT" "" "SUMMARY record" "" "" "0" "" "" "g.48465103del" "" "VUS" ""
"0000486346" "0" "55" "13" "49039249" "49039249" "subst" "0" "03316" "RB1_001903" "g.49039249T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465113T>G" "" "VUS" ""
"0000486347" "0" "55" "13" "49039252" "49039252" "subst" "0" "03316" "RB1_001904" "g.49039252G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48465116G>A" "" "VUS" ""
"0000486348" "0" "55" "13" "49039423" "49039423" "dup" "0" "03316" "RB1_001905" "g.49039423dup" "" "{DB-RB1}" "" "2408dupA" "" "SUMMARY record" "" "" "0" "" "" "g.48465287dup" "" "VUS" ""
"0000486349" "0" "55" "13" "49039450" "49039450" "del" "0" "03316" "RB1_001906" "g.49039450del" "" "{DB-RB1}" "" "2435delC" "" "SUMMARY record" "" "" "0" "" "" "g.48465314del" "" "VUS" ""
"0000486350" "0" "55" "13" "49039491" "49039509" "del" "0" "03316" "RB1_001907" "g.49039491_49039509del" "" "{DB-RB1}" "" "2476_2489+5del19" "" "SUMMARY record" "" "" "0" "" "" "g.48465355_48465373del" "" "VUS" ""
"0000486351" "0" "55" "13" "49047495" "49047495" "subst" "0" "03316" "RB1_001908" "g.49047495G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48473359G>A" "" "VUS" ""
"0000486352" "0" "55" "13" "49033824" "49033866" "dup" "0" "03316" "RB1_001909" "g.49033824_49033866dup" "" "{DB-RB1}" "" "1961_2003dup43" "" "SUMMARY record" "" "" "0" "" "" "g.48459688_48459730dup" "" "VUS" ""
"0000486353" "0" "55" "13" "49033831" "49033831" "dup" "0" "03316" "RB1_001910" "g.49033831dup" "" "{DB-RB1}" "" "1968dupG" "" "SUMMARY record" "" "" "0" "" "" "g.48459695dup" "" "VUS" ""
"0000486354" "0" "55" "13" "49033892" "49033892" "subst" "0" "03316" "RB1_001911" "g.49033892G>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459756G>T" "" "VUS" ""
"0000486355" "0" "55" "13" "49033894" "49033894" "dup" "0" "03316" "RB1_001912" "g.49033894dup" "" "{DB-RB1}" "" "2031dupA" "" "SUMMARY record" "" "" "0" "" "" "g.48459758dup" "" "VUS" ""
"0000486356" "0" "55" "13" "49033940" "49033943" "dup" "0" "03316" "RB1_001914" "g.49033940_49033943dup" "" "{DB-RB1}" "" "2077_2080dup4" "" "SUMMARY record" "" "" "0" "" "" "g.48459804_48459807dup" "" "VUS" ""
"0000486357" "0" "55" "13" "48936951" "48936952" "ins" "0" "03316" "RB1_001915" "g.48936951_48936952insTA" "" "{DB-RB1}" "" "718_719insAT" "" "SUMMARY record" "" "" "0" "" "" "g.48362815_48362816insTA" "" "VUS" ""
"0000486358" "0" "55" "13" "48936963" "48936966" "delins" "0" "03316" "RB1_001916" "g.48936963_48936966delinsGG" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48362827_48362830delinsGG" "" "VUS" ""
"0000486359" "0" "55" "13" "48941673" "48941673" "dup" "0" "03316" "RB1_001917" "g.48941673dup" "" "{DB-RB1}" "" "983dupA" "" "SUMMARY record" "" "" "0" "" "" "g.48367537dup" "" "VUS" ""
"0000486360" "0" "55" "13" "48941700" "48941700" "dup" "0" "03316" "RB1_001918" "g.48941700dup" "" "{DB-RB1}" "" "1010dupT" "" "SUMMARY record" "" "" "0" "" "" "g.48367564dup" "" "VUS" ""
"0000486361" "0" "55" "13" "48942674" "48942674" "dup" "0" "03316" "RB1_001919" "g.48942674dup" "" "{DB-RB1}" "" "1061dupA" "" "SUMMARY record" "" "" "0" "" "" "g.48368538dup" "" "VUS" ""
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"0000486530" "0" "99" "13" "48923126" "48923126" "subst" "0" "03316" "RB1_002096" "g.48923126A>T" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48348990A>T" "" "pathogenic" ""
"0000486531" "0" "77" "13" "48954383" "48954383" "subst" "0" "03316" "RB1_002097" "g.48954383T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48380247T>A" "" "likely pathogenic" ""
"0000486532" "0" "55" "13" "48916790" "48916806" "del" "0" "03316" "RB1_002098" "g.48916790_48916806del" "" "{DB-RB1}" "" "320_336delCAGTTGACCTAGATGAG" "" "SUMMARY record" "" "" "0" "" "" "g.48342654_48342670del" "" "VUS" ""
"0000486533" "0" "55" "13" "49037944" "49037944" "subst" "0" "03316" "RB1_002099" "g.49037944C>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48463808C>G" "" "VUS" ""
"0000486534" "0" "77" "13" "48923135" "48923135" "subst" "0" "03316" "RB1_002101" "g.48923135T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48348999T>C" "" "likely pathogenic" ""
"0000486535" "0" "99" "13" "49033848" "49033848" "subst" "0" "03316" "RB1_002102" "g.49033848T>G" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459712T>G" "" "pathogenic" ""
"0000486536" "0" "55" "13" "48942662" "48942662" "subst" "0" "03316" "RB1_002103" "g.48942662G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48368526G>A" "" "VUS" ""
"0000486537" "0" "55" "13" "48953733" "48953734" "ins" "0" "03316" "RB1_002108" "g.48953733_48953734insTA" "" "{DB-RB1}" "" "1337insTA" "" "SUMMARY record" "" "" "0" "" "" "g.48379597_48379598insTA" "" "VUS" ""
"0000486538" "0" "55" "13" "48955480" "48955480" "subst" "4.09628E-5" "03316" "RB1_002109" "g.48955480C>T" "" "{DB-RB1}" "" "1593C>T (Ile532Ile)" "" "SUMMARY record" "" "" "0" "" "" "g.48381344C>T" "" "VUS" ""
"0000486539" "0" "55" "13" "49030490" "49030490" "subst" "0" "03316" "RB1_002110" "g.49030490G>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48456354G>A" "" "VUS" ""
"0000486540" "0" "55" "13" "48934213" "48934213" "subst" "0" "03316" "RB1_002111" "g.48934213T>C" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360077T>C" "" "VUS" ""
"0000486541" "0" "55" "13" "48934180" "48934180" "del" "0" "03316" "RB1_002112" "g.48934180del" "" "{DB-RB1}" "" "635delT" "" "SUMMARY record" "" "" "0" "" "" "g.48360044del" "" "VUS" ""
"0000486542" "0" "55" "13" "49033943" "49033944" "ins" "0" "03316" "RB1_002113" "g.49033943_49033944insCCTGCAGAACACCCTGCAGAA" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48459807_48459808insCCTGCAGAACACCCTGCAGAA" "" "VUS" ""
"0000486543" "0" "55" "13" "48934189" "48934205" "del" "0" "03316" "RB1_002114" "g.48934189_48934205del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360053_48360069del" "" "VUS" ""
"0000486544" "0" "55" "13" "48934137" "48934153" "del" "0" "03316" "RB1_002115" "g.48934137_48934153del" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360001_48360017del" "" "VUS" ""
"0000486545" "0" "55" "13" "48934187" "48934187" "subst" "0" "03316" "RB1_002160" "g.48934187T>A" "" "{DB-RB1}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48360051T>A" "" "VUS" ""
"0000550878" "0" "30" "13" "48878090" "48878090" "subst" "0.00147484" "01943" "RB1_000023" "g.48878090C>T" "" "" "" "RB1(NM_000321.2):c.42C>T (p.A14=), RB1(NM_000321.3):c.42C>T (p.A14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48303954C>T" "" "likely benign" ""
"0000550879" "0" "30" "13" "48878093" "48878101" "del" "0" "01804" "RB1_000957" "g.48878093_48878101del" "" "" "" "RB1(NM_000321.2):c.37_45del (p.(Ala16_Ala18del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48303957_48303965del" "" "likely benign" ""
"0000550880" "0" "50" "13" "48881484" "48881484" "subst" "0" "02325" "LPAR6_000001" "g.48881484A>G" "" "" "" "RB1(NM_000321.3):c.206A>G (p.H69R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48307348A>G" "" "VUS" ""
"0000550881" "0" "90" "13" "48936995" "48936995" "subst" "0" "02325" "RB1_000063" "g.48936995C>T" "" "" "" "RB1(NM_000321.3):c.763C>T (p.R255*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48362859C>T" "" "pathogenic" ""
"0000550882" "0" "10" "13" "48939015" "48939015" "subst" "0.000746212" "02329" "LPAR6_000002" "g.48939015C>A" "" "" "" "RB1(NM_000321.3):c.862-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48364879C>A" "" "benign" ""
"0000550884" "0" "90" "13" "48955538" "48955538" "subst" "0" "02325" "RB1_000121" "g.48955538C>T" "" "" "" "RB1(NM_000321.3):c.1654C>T (p.R552*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48381402C>T" "" "pathogenic" ""
"0000550885" "0" "90" "13" "49027160" "49027160" "subst" "0" "02325" "RB1_001514" "g.49027160C>G" "" "" "" "RB1(NM_000321.3):c.1727C>G (p.S576*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48453024C>G" "" "pathogenic" ""
"0000550886" "0" "90" "13" "49027168" "49027168" "subst" "0" "02325" "RB1_000129" "g.49027168C>T" "" "" "" "RB1(NM_000321.3):c.1735C>T (p.R579*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48453032C>T" "" "pathogenic" ""
"0000550887" "0" "90" "13" "49037972" "49037972" "subst" "0" "02325" "RB1_000510" "g.49037972G>A" "" "" "" "RB1(NM_000321.3):c.2211+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48463836G>A" "" "pathogenic" ""
"0000550888" "0" "10" "13" "49039121" "49039122" "ins" "0" "02329" "LPAR6_000004" "g.49039121_49039122insTTT" "" "" "" "RB1(NM_000321.3):c.2212-13_2212-12insTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48464985_48464986insTTT" "" "benign" ""
"0000550889" "0" "90" "13" "49039145" "49039145" "dup" "0" "02325" "LPAR6_000005" "g.49039145dup" "" "" "" "RB1(NM_000321.3):c.2223dupT (p.V742Cfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48465009dup" "" "pathogenic" ""
"0000550890" "0" "90" "13" "49039374" "49039374" "subst" "0" "02325" "RB1_000005" "g.49039374C>T" "" "" "" "RB1(NM_000321.3):c.2359C>T (p.R787*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48465238C>T" "" "pathogenic" ""
"0000550891" "0" "50" "13" "49047497" "49047497" "subst" "2.03646E-5" "01943" "LPAR6_000006" "g.49047497A>G" "" "" "" "RB1(NM_000321.2):c.2491A>G (p.I831V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48473361A>G" "" "VUS" ""
"0000550892" "0" "30" "13" "49050826" "49050826" "subst" "0.00631684" "02329" "RB1_001062" "g.49050826G>A" "" "" "" "RB1(NM_000321.3):c.2521-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48476690G>A" "" "likely benign" ""
"0000550894" "0" "50" "13" "49054205" "49054205" "subst" "0" "01943" "LPAR6_000008" "g.49054205T>A" "" "" "" "RB1(NM_000321.2):c.2785T>A (p.*929Rext*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48480069T>A" "" "VUS" ""
"0000604237" "0" "50" "13" "49039252" "49039252" "subst" "0" "01164" "RB1_001904" "g.49039252G>A" "" "" "" "" "Price et al. 2014. J Med Genet 51: 208" "Germline" "" "rs886042249" "0" "" "" "g.48465116G>A" "" "VUS" "ACMG"
"0000614656" "0" "90" "13" "48877852" "48877852" "subst" "0" "02325" "RB1_000928" "g.48877852G>A" "" "" "" "RB1(NM_000321.3):c.-197G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48303716G>A" "" "pathogenic" ""
"0000614657" "0" "30" "13" "48936943" "48936943" "subst" "8.13292E-6" "01943" "LPAR6_000009" "g.48936943T>C" "" "" "" "RB1(NM_000321.2):c.719-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48362807T>C" "" "likely benign" ""
"0000614658" "0" "70" "13" "49050881" "49050885" "dup" "0" "01804" "LPAR6_000011" "g.49050881_49050885dup" "" "" "" "RB1(NM_000321.2):c.2564_2565insCGACC (p.(Arg857ProfsTer18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48476745_48476749dup" "" "likely pathogenic" ""
"0000623068" "0" "90" "13" "48955513" "48955514" "del" "0" "02325" "RB1_000631" "g.48955513_48955514del" "" "" "" "RB1(NM_000321.3):c.1629_1630delAA (p.E545Nfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48381377_48381378del" "" "pathogenic" ""
"0000623069" "0" "70" "13" "49039504" "49039504" "subst" "0" "02325" "LPAR6_000010" "g.49039504G>A" "" "" "" "RB1(NM_000321.3):c.2489G>A (p.R830K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48465368G>A" "" "likely pathogenic" ""
"0000648794" "1" "90" "13" "48936995" "48936995" "subst" "0" "03575" "RB1_000063" "g.48936995C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587778842}" "Germline" "" "rs587778842" "0" "" "" "g.48362859C>T" "" "pathogenic" ""
"0000648795" "1" "90" "13" "48985998" "48985998" "subst" "3.27726E-5" "03575" "LPAR6_000012" "g.48985998T>A" "8/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs121434307}" "Germline" "" "rs121434307" "0" "" "" "g.48411862T>A" "" "pathogenic" ""
"0000648796" "1" "90" "13" "49039385" "49039385" "subst" "0" "03575" "RB1_000282" "g.49039385C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794727372}" "Germline" "" "rs794727372" "0" "" "" "g.48465249C>A" "" "pathogenic" ""
"0000648797" "1" "50" "13" "49039407" "49039407" "subst" "8.12229E-5" "03575" "RB1_001373" "g.49039407C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs187912365}" "Germline" "" "rs187912365" "0" "" "" "g.48465271C>T" "" "VUS" ""
"0000653003" "1" "90" "13" "48916767" "48916767" "subst" "0" "03575" "RB1_000040" "g.48916767G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794727481}" "Germline" "" "rs794727481" "0" "" "" "g.48342631G>A" "" "pathogenic" ""
"0000653004" "1" "90" "13" "48916767" "48916767" "subst" "0" "03575" "RB1_000040" "g.48916767G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794727481}" "Germline" "" "rs794727481" "0" "" "" "g.48342631G>A" "" "pathogenic" ""
"0000657306" "0" "90" "13" "48878067" "48878067" "del" "0" "02325" "RB1_001208" "g.48878067del" "" "" "" "RB1(NM_000321.3):c.19delC (p.R7Efs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48303931del" "" "pathogenic" ""
"0000657307" "0" "30" "13" "48939088" "48939088" "subst" "0.00135917" "01943" "RB1_000395" "g.48939088C>T" "" "" "" "RB1(NM_000321.2):c.920C>T (p.T307I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48364952C>T" "" "likely benign" ""
"0000675182" "0" "70" "13" "49030486" "49030486" "subst" "0" "03753" "RB1_001898" "g.49030486G>T" "blood: 0.399 / FFPE tumor: 0.961" "{PMID:Mendonca 2021:34478740}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000675210" "3" "70" "13" "49033898" "49033901" "dup" "0" "03753" "RB1_002167" "g.49033898_49033901dup" "0.916" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000675211" "3" "70" "13" "48947629" "48947629" "subst" "0" "03753" "RB1_000011" "g.48947629G>A" "0.923" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000675212" "0" "70" "13" "48916851" "48916851" "subst" "0" "03753" "RB1_000188" "g.48916851G>A" "0.071" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000675371" "0" "70" "13" "49030426" "49030426" "subst" "0" "03753" "RB1_000141" "g.49030426C>G" "0.224" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000675373" "3" "70" "13" "48947629" "48947629" "subst" "0" "03753" "RB1_000011" "g.48947629G>A" "1" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000675375" "3" "70" "13" "48947629" "48947629" "subst" "0" "03753" "RB1_000011" "g.48947629G>A" "1" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000679825" "0" "30" "13" "48916860" "48916860" "subst" "0.00175421" "01943" "RB1_001006" "g.48916860C>G" "" "" "" "RB1(NM_000321.2):c.380+10C>G, RB1(NM_000321.3):c.380+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679826" "0" "90" "13" "48953760" "48953760" "subst" "0" "02325" "RB1_000096" "g.48953760C>T" "" "" "" "RB1(NM_000321.3):c.1363C>T (p.R455*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000679827" "0" "30" "13" "49030386" "49030386" "subst" "0.000134018" "01943" "RB1_001573" "g.49030386C>A" "" "" "" "RB1(NM_000321.2):c.1861C>A (p.R621S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000682705" "0" "70" "13" "48954379" "48954379" "subst" "0" "03753" "RB1_000437" "g.48954379T>G" "0.335" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000682767" "3" "70" "13" "48936995" "48936995" "subst" "0" "03753" "RB1_000063" "g.48936995C>T" "blood: 0.342 / FFPE tumor: 0.976" "{PMID:Mendonca 2021:34478740}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000682776" "0" "70" "13" "48947629" "48947629" "subst" "0" "03753" "RB1_000011" "g.48947629G>A" "0.884" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000682795" "0" "50" "13" "48919381" "48919381" "subst" "0.00135523" "03753" "RB1_001014" "g.48919381A>G" "0.455" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682796" "0" "50" "13" "48919381" "48919381" "subst" "0.00135523" "03753" "RB1_001014" "g.48919381A>G" "blood = 0.493" "{PMID:Mendonca 2021:34478740}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682797" "0" "50" "13" "48934291" "48934291" "subst" "0" "03753" "RB1_002161" "g.48934291C>T" "blood = 0.458" "{PMID:Mendonca 2021:34478740}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682798" "0" "50" "13" "49030360" "49030360" "subst" "0" "03753" "RB1_002164" "g.49030360C>T" "0.058" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682799" "0" "50" "13" "49030451" "49030451" "subst" "0" "03753" "RB1_002165" "g.49030451G>A" "0.056" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682800" "0" "50" "13" "49030464" "49030464" "subst" "0" "03753" "RB1_002166" "g.49030464C>T" "0.059" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682801" "3" "50" "13" "48934298" "48934298" "subst" "0.00227791" "03753" "RB1_001023" "g.48934298A>T" "blood=0.578/ FFPE tumor=0.972" "{PMID:Mendonca 2021:34478740}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682802" "0" "50" "13" "49027147" "49027147" "subst" "0" "03753" "RB1_002163" "g.49027147C>T" "0.049" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682803" "0" "50" "13" "49051500" "49051500" "subst" "0" "03753" "RB1_002170" "g.49051500C>T" "0.047" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682804" "0" "50" "13" "48934291" "48934291" "subst" "0" "03753" "RB1_002161" "g.48934291C>T" "0.044" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682805" "0" "50" "13" "49039413" "49039413" "subst" "0" "03753" "RB1_002169" "g.49039413C>T" "0.052" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682806" "0" "50" "13" "48954369" "48954369" "subst" "0" "03753" "RB1_002162" "g.48954369C>T" "0.048" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000682807" "0" "50" "13" "49033993" "49033993" "subst" "0.000187405" "03753" "RB1_002168" "g.49033993T>G" "0.464" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000683450" "0" "70" "13" "49033970" "49033970" "subst" "0" "03753" "RB1_002171" "g.49033970G>T" "" "{PMID:Mendonca 2021:34478740}" "" "" "" "Artefact" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000683451" "0" "70" "13" "49033970" "49033970" "subst" "0" "03753" "RB1_002171" "g.49033970G>T" "" "{PMID:Mendonca 2021:34478740}" "" "" "" "Artefact" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000683452" "0" "70" "13" "49033970" "49033970" "subst" "0" "03753" "RB1_002171" "g.49033970G>T" "" "{PMID:Mendonca 2021:34478740}" "" "" "" "Artefact" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000691555" "0" "50" "13" "49033829" "49033829" "subst" "0.000662058" "01943" "RB1_000403" "g.49033829C>T" "" "" "" "RB1(NM_000321.2):c.1966C>T (p.R656W), RB1(NM_000321.3):c.1966C>T (p.R656W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691556" "0" "50" "13" "49054146" "49054146" "subst" "2.03844E-5" "01943" "LPAR6_000013" "g.49054146C>A" "" "" "" "RB1(NM_000321.2):c.2726C>A (p.T909K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000713960" "1" "70" "13" "48936996" "48936996" "subst" "0" "00000" "RB1_002172" "g.48936996G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.48362860G>A" "" "likely pathogenic (dominant)" ""
"0000713961" "1" "70" "13" "49037939" "49037939" "subst" "0" "00000" "RB1_002173" "g.49037939G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.48463803G>A" "" "likely pathogenic (dominant)" ""
"0000713962" "1" "70" "13" "49054196" "49054196" "subst" "0" "00000" "RB1_002174" "g.49054196G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.48480060G>A" "" "likely pathogenic (dominant)" ""
"0000724552" "0" "50" "13" "48878107" "48878107" "subst" "0.000131398" "01943" "RB1_000493" "g.48878107C>T" "" "" "" "RB1(NM_000321.2):c.59C>T (p.P20L, p.(Pro20Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724553" "0" "90" "13" "48941648" "48941648" "subst" "0" "02325" "RB1_000072" "g.48941648C>T" "" "" "" "RB1(NM_000321.3):c.958C>T (p.R320*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724554" "0" "90" "13" "48955452" "48955452" "del" "0" "02325" "LPAR6_000014" "g.48955452del" "" "" "" "RB1(NM_000321.3):c.1568delT (p.L523*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000735192" "3" "30" "13" "48921964" "48921964" "subst" "4.10458E-6" "00000" "RB1_002175" "g.48921964A>T" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}" "" "" "" "Germline" "" "" "0" "" "" "g.48347828A>T" "" "likely benign" ""
"0000765484" "1" "70" "13" "48878131" "48878131" "subst" "1.08743E-5" "00000" "RB1_002147" "g.48878131C>G" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.48303995C>G" "" "likely pathogenic" ""
"0000793760" "0" "70" "13" "48936996" "48936996" "subst" "0" "00000" "RB1_002172" "g.48936996G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.764G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000793761" "0" "70" "13" "49037939" "49037939" "subst" "0" "00000" "RB1_002173" "g.49037939G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.2179G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000793762" "0" "70" "13" "49054196" "49054196" "subst" "0" "00000" "RB1_002174" "g.49054196G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.2776G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000806188" "0" "90" "13" "48942685" "48942685" "subst" "0" "02325" "RB1_000008" "g.48942685C>T" "" "" "" "RB1(NM_000321.3):c.1072C>T (p.R358*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000806189" "0" "90" "13" "48954352" "48954352" "del" "0" "02325" "LPAR6_000015" "g.48954352del" "" "" "" "RB1(NM_000321.3):c.1473delT (p.E492Rfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000806190" "0" "90" "13" "48954373" "48954376" "del" "0" "02325" "LPAR6_000016" "g.48954373_48954376del" "" "" "" "RB1(NM_000321.3):c.1494_1497delTAGC (p.Y498*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000806191" "0" "90" "13" "48954379" "48954379" "dup" "0" "02325" "LPAR6_000017" "g.48954379dup" "" "" "" "RB1(NM_000321.3):c.1498+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000806192" "0" "90" "13" "49050909" "49050909" "subst" "0" "02325" "LPAR6_000018" "g.49050909G>T" "" "" "" "RB1(NM_000321.3):c.2593G>T (p.G865*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000812539" "0" "90" "13" "48919336" "48919336" "subst" "0" "00000" "RB1_001597" "g.48919336G>A" "" "{PMID:Wang 2019:31106028}" "" "c.500+1G>A, p.?" "heterozygous" "De novo" "yes" "" "0" "" "" "g.48345200G>A" "" "pathogenic" ""
"0000812602" "0" "90" "13" "49050871" "49050871" "dup" "0" "00000" "RB1_002184" "g.49050871dup" "" "{PMID:Wang 2019:31106028}" "" "c.2555dup, p.(Cys853Metfs*2)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48476735dup" "" "pathogenic" ""
"0000812603" "0" "90" "13" "49030464" "49030465" "del" "0" "00000" "RB1_000145" "g.49030464_49030465del" "" "{PMID:Wang 2019:31106028}" "" "c.1939_1940del, p.(Leu647Phefs*5)" "heterozygous" "De novo" "yes" "" "0" "" "" "g.48456328_48456329del" "" "pathogenic" ""
"0000812604" "0" "90" "13" "48947629" "48947629" "subst" "0" "00000" "RB1_000011" "g.48947629G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1215+1G>A, p.?" "heterozygous" "De novo" "?" "" "0" "" "" "g.48373493G>A" "" "pathogenic" ""
"0000812605" "0" "70" "13" "48941648" "48941648" "subst" "0" "00000" "RB1_000072" "g.48941648C>T" "" "{PMID:Wang 2019:31106028}" "" "c.958C>T, p.(Arg320*)" "heterozygous" "De novo" "yes" "" "0" "" "" "g.48367512C>T" "" "likely pathogenic" ""
"0000812640" "0" "90" "13" "48953760" "48953760" "subst" "0" "00000" "RB1_000096" "g.48953760C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1363C>T, p.(Arg455*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48379624C>T" "" "pathogenic" ""
"0000812641" "0" "70" "13" "49039158" "49039158" "subst" "0" "00000" "RB1_000378" "g.49039158G>T" "" "{PMID:Wang 2019:31106028}" "" "c.2236G>T, p.(Glu746*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48465022G>T" "" "likely pathogenic" ""
"0000812660" "0" "70" "13" "48941648" "48941648" "subst" "0" "00000" "RB1_000072" "g.48941648C>T" "" "{PMID:Wang 2019:31106028}" "" "c.958C>T, p.(Arg320*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48367512C>T" "" "likely pathogenic" ""
"0000812673" "0" "90" "13" "49039391" "49039391" "del" "0" "00000" "RB1_000175" "g.49039391del" "" "{PMID:Wang 2019:31106028}" "" "c.2376del, p.(Pro793Leufs*17)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48465255del" "" "pathogenic" ""
"0000812704" "0" "70" "13" "49027168" "49027168" "subst" "0" "00000" "RB1_000129" "g.49027168C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1735C>T, p.(Arg579*)" "heterozygous" "De novo" "yes" "" "0" "" "" "g.48453032C>T" "" "likely pathogenic" ""
"0000812705" "0" "90" "13" "49039171" "49039172" "dup" "0" "00000" "RB1_002183" "g.49039171_49039172dup" "" "{PMID:Wang 2019:31106028}" "" "c.2249_2250dup, p.(Ser751Ilefs*4)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48465035_48465036dup" "" "pathogenic" ""
"0000812706" "0" "90" "13" "48954198" "48954198" "subst" "0" "00000" "RB1_000099" "g.48954198C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1399C>T, p.(Arg467*)" "heterozygous" "De novo" "yes" "" "0" "" "" "g.48380062C>T" "" "pathogenic" ""
"0000812707" "0" "70" "13" "48936983" "48936983" "subst" "0" "00000" "RB1_000062" "g.48936983C>T" "" "{PMID:Wang 2019:31106028}" "" "c.751C>T, p.(Arg251*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48362847C>T" "" "likely pathogenic" ""
"0000812708" "0" "70" "13" "49030478" "49030478" "subst" "0" "00000" "RB1_002182" "g.49030478T>A" "" "{PMID:Wang 2019:31106028}" "" "c.1953T>A, p.(Tyr651*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48456342T>A" "" "likely pathogenic" ""
"0000812709" "0" "90" "13" "48954198" "48954198" "subst" "0" "00000" "RB1_000099" "g.48954198C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1399C>T, p.(Arg467*)" "heterozygous" "De novo" "yes" "" "0" "" "" "g.48380062C>T" "" "pathogenic" ""
"0000812710" "0" "90" "13" "48878191" "48878191" "subst" "0" "00000" "RB1_002176" "g.48878191C>A" "" "{PMID:Wang 2019:31106028}" "" "c.137+6C>A, p.?" "heterozygous" "De novo" "?" "" "0" "" "" "g.48304055C>A" "" "pathogenic" ""
"0000812711" "0" "90" "13" "48881415" "48881415" "subst" "0" "00000" "RB1_002177" "g.48881415G>C" "" "{PMID:Wang 2019:31106028}" "" "c.138-1G>C, p.?" "heterozygous" "De novo" "yes" "" "0" "" "" "g.48307279G>C" "" "pathogenic" ""
"0000812726" "0" "90" "13" "48947629" "48947629" "subst" "0" "00000" "RB1_000011" "g.48947629G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1215+1G>A, p.?" "heterozygous" "De novo" "?" "" "0" "" "" "g.48373493G>A" "" "pathogenic" ""
"0000812727" "0" "90" "13" "48955431" "48955434" "del" "0" "00000" "RB1_002181" "g.48955431_48955434del" "" "{PMID:Wang 2019:31106028}" "" "c.1547_1550del, p.(Trp516Phefs*2)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48381295_48381298del" "" "pathogenic" ""
"0000812728" "0" "70" "13" "48923137" "48923137" "subst" "0" "00000" "RB1_002178" "g.48923137G>C" "" "{PMID:Wang 2019:31106028}" "" "c.585G>C, p.(Trp195Cys)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48349001G>C" "" "likely pathogenic" ""
"0000812729" "0" "50" "13" "49030386" "49030386" "subst" "0.000134018" "00000" "RB1_001573" "g.49030386C>A" "" "{PMID:Wang 2019:31106028}" "" "c.1861C>A, p.(Arg621Ser)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48456250C>A" "" "VUS" ""
"0000812730" "0" "70" "13" "49039374" "49039374" "subst" "0" "00000" "RB1_000005" "g.49039374C>T" "" "{PMID:Wang 2019:31106028}" "" "c.2359C>T, p.(Arg787*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48465238C>T" "" "likely pathogenic" ""
"0000812750" "0" "90" "13" "48936992" "48936992" "dup" "0" "00000" "RB1_002179" "g.48936992dup" "" "{PMID:Wang 2019:31106028}" "" "c.760dup, p.(Arg254Lysfs*17)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48362856dup" "" "pathogenic" ""
"0000812751" "0" "70" "13" "49027168" "49027168" "subst" "0" "00000" "RB1_000129" "g.49027168C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1735C>T, p.(Arg579*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48453032C>T" "" "likely pathogenic" ""
"0000812774" "0" "70" "13" "49039374" "49039374" "subst" "0" "00000" "RB1_000005" "g.49039374C>T" "" "{PMID:Wang 2019:31106028}" "" "c.2359C>T, p.(Arg787*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48465238C>T" "" "likely pathogenic" ""
"0000812785" "0" "70" "13" "49039374" "49039374" "subst" "0" "00000" "RB1_000005" "g.49039374C>T" "" "{PMID:Wang 2019:31106028}" "" "c.2359C>T, p.(Arg787*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48465238C>T" "" "likely pathogenic" ""
"0000812790" "0" "70" "13" "48878131" "48878131" "subst" "1.08743E-5" "00000" "RB1_002147" "g.48878131C>G" "" "{PMID:Wang 2019:31106028}" "" "c.83C>G, p.(Pro28Arg)" "heterozygous" "De novo" "yes" "" "0" "" "" "g.48303995C>G" "" "likely pathogenic" ""
"0000812791" "0" "90" "13" "48953730" "48953730" "subst" "4.0935E-6" "00000" "RB1_000003" "g.48953730C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1333C>T, p.(Arg445*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48379594C>T" "" "pathogenic" ""
"0000812800" "0" "70" "13" "49027168" "49027168" "subst" "0" "00000" "RB1_000129" "g.49027168C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1735C>T, p.(Arg579*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48453032C>T" "" "likely pathogenic" ""
"0000812801" "0" "90" "13" "48878093" "48878124" "del" "0" "00000" "RB1_001409" "g.48878093_48878124del" "" "{PMID:Wang 2019:31106028}" "" "c.45_76del, p.(Ala17Profs*3)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48303957_48303988del" "" "pathogenic" ""
"0000812802" "0" "90" "13" "48937085" "48937085" "del" "0" "00000" "RB1_002180" "g.48937085del" "" "{PMID:Wang 2019:31106028}" "" "c.853del, p.(Ile285*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48362949del" "" "pathogenic" ""
"0000812803" "0" "90" "13" "48947629" "48947629" "subst" "0" "00000" "RB1_000011" "g.48947629G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1215+1G>A, p.?" "heterozygous" "De novo" "?" "" "0" "" "" "g.48373493G>A" "" "pathogenic" ""
"0000812821" "0" "70" "13" "48955538" "48955538" "subst" "0" "00000" "RB1_000121" "g.48955538C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1654C>T, p.(Arg552*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.48381402C>T" "" "likely pathogenic" ""
"0000812842" "0" "90" "13" "48951171" "48951171" "subst" "0" "00000" "RB1_000204" "g.48951171G>T" "" "{PMID:Wang 2019:31106028}" "" "c.1332+1G>T, p.?" "heterozygous" "De novo" "?" "" "0" "" "" "g.48377035G>T" "" "pathogenic" ""
"0000815860" "0" "70" "13" "49039169" "49039170" "ins" "0" "00006" "RB1_002185" "g.49039169_49039170insAA" "" "{PMID:Nair 2018:30293248}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48465033_48465034insAA" "" "likely pathogenic" ""
"0000853683" "0" "30" "13" "48881653" "48881653" "subst" "0" "02369" "LPAR6_000020" "g.48881653A>C" "" "" "" "RB1(NM_000321.2):c.264+111A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853684" "0" "30" "13" "48954172" "48954172" "subst" "0" "02369" "LPAR6_000021" "g.48954172T>A" "" "" "" "RB1(NM_000321.2):c.1390-17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853685" "0" "10" "13" "48954175" "48954175" "subst" "0.0420541" "02326" "RB1_000517" "g.48954175A>T" "" "" "" "RB1(NM_000321.2):c.1390-14A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000853686" "0" "90" "13" "49033844" "49033844" "subst" "1.62678E-5" "02325" "RB1_000019" "g.49033844C>T" "" "" "" "RB1(NM_000321.3):c.1981C>T (p.R661W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000853687" "0" "30" "13" "49047564" "49047564" "subst" "0.000136409" "02369" "LPAR6_000022" "g.49047564T>C" "" "" "" "RB1(NM_000321.2):c.2520+38T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863395" "0" "30" "13" "48878067" "48878067" "subst" "0" "01943" "LPAR6_000019" "g.48878067C>A" "" "" "" "RB1(NM_000321.2):c.19C>A (p.R7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863396" "0" "50" "13" "49039118" "49039118" "dup" "0" "01804" "RB1_001125" "g.49039118dup" "" "" "" "RB1(NM_000321.2):c.2212-16dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000876931" "3" "70" "13" "48986372" "48986372" "subst" "0" "00000" "LPAR6_000023" "g.48986372T>A" "" "{PMID:Pedurupillay 2016:27472364}" "" "LPAR6 c.188A>T, p.(Asp63Val)" "homozygous" "Germline" "yes" "" "0" "" "" "g.48412236T>A" "" "likely pathogenic" ""
"0000876932" "3" "70" "13" "48986372" "48986372" "subst" "0" "00000" "LPAR6_000023" "g.48986372T>A" "" "{PMID:Pedurupillay 2016:27472364}" "" "LPAR6 c.188A>T, p.(Asp63Val)" "homozygous" "Germline" "yes" "" "0" "" "" "g.48412236T>A" "" "likely pathogenic" ""
"0000891551" "0" "50" "13" "48878155" "48878155" "subst" "0" "02326" "LPAR6_000024" "g.48878155A>G" "" "" "" "RB1(NM_000321.2):c.107A>G (p.D36G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000891552" "0" "90" "13" "48881497" "48881498" "dup" "0" "02325" "RB1_000513" "g.48881497_48881498dup" "" "" "" "RB1(NM_000321.3):c.219_220dupAG (p.A74Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000891553" "0" "90" "13" "48953743" "48953743" "dup" "0" "02325" "RB1_001623" "g.48953743dup" "" "" "" "RB1(NM_000321.3):c.1346dupG (p.V450Sfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000891554" "0" "10" "13" "48954175" "48954175" "subst" "0.0420541" "01804" "RB1_000517" "g.48954175A>T" "" "" "" "RB1(NM_000321.2):c.1390-14A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000891555" "0" "10" "13" "49039118" "49039118" "del" "0" "01804" "RB1_001124" "g.49039118del" "" "" "" "RB1(NM_000321.2):c.2212-16del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000891556" "0" "90" "13" "49039206" "49039206" "subst" "0" "02325" "RB1_001198" "g.49039206C>T" "" "" "" "RB1(NM_000321.3):c.2284C>T (p.Q762*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000914109" "0" "90" "13" "48954187" "48954187" "subst" "0" "02325" "LPAR6_000025" "g.48954187A>G" "" "" "" "RB1(NM_000321.3):c.1390-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000916947" "0" "90" "13" "48954220" "48954220" "subst" "0" "01082" "RB1_001626" "g.48954220G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48380084G>T" "495820" "likely pathogenic (dominant)" "ACMG"
"0000925811" "0" "50" "13" "48939097" "48939097" "subst" "0.000365021" "02325" "RB1_000070" "g.48939097G>A" "" "" "" "RB1(NM_000321.3):c.929G>A (p.G310E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000925812" "0" "90" "13" "48955572" "48955572" "subst" "0" "02325" "RB1_001343" "g.48955572G>T" "" "" "" "RB1(NM_000321.3):c.1688G>T (p.W563L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000930255" "0" "50" "13" "48986411" "48986411" "subst" "2.03292E-5" "02325" "LPAR6_000026" "g.48986411T>C" "" "" "" "LPAR6(NM_005767.7):c.149A>G (p.N50S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000950167" "0" "50" "13" "48916760" "48916760" "subst" "0" "02325" "LPAR6_000027" "g.48916760A>T" "" "" "" "RB1(NM_000321.3):c.290A>T (p.E97V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000950168" "0" "90" "13" "48942673" "48942674" "del" "0" "02325" "RB1_000798" "g.48942673_48942674del" "" "" "" "RB1(NM_000321.3):c.1060_1061delCA (p.Q354Efs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000950169" "0" "90" "13" "49027133" "49027133" "subst" "0" "02325" "RB1_001513" "g.49027133C>A" "" "" "" "RB1(NM_000321.3):c.1700C>A (p.S567*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000950170" "0" "90" "13" "49039248" "49039248" "subst" "0" "02325" "RB1_000330" "g.49039248G>A" "" "" "" "RB1(NM_000321.3):c.2325+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000954324" "11" "90" "13" "49009948" "49009949" "ins" "0" "00006" "RB1_002186" "g.49009948_49009949ins[NM_017867.2:c.-67_*108;A[?]]inv" "" "{PMID:Le Gall 2023:37541786}" "" "retrogee insertion" "expression mRNA level normal" "Germline" "yes" "" "0" "" "" "g.48435812_48435813ins[NM_017867.2:c.-67_*108;A[?]]inv" "" "pathogenic (dominant)" ""
"0000967326" "0" "90" "13" "48937043" "48937043" "dup" "0" "02325" "RB1_000981" "g.48937043dup" "" "" "" "RB1(NM_000321.3):c.811dupA (p.T271Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000967327" "0" "90" "13" "48954198" "48954198" "subst" "0" "02325" "RB1_000099" "g.48954198C>T" "" "" "" "RB1(NM_000321.3):c.1399C>T (p.R467*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000967329" "0" "90" "13" "49027168" "49027168" "subst" "0" "02327" "RB1_000129" "g.49027168C>T" "" "" "" "RB1(NM_000321.3):c.1735C>T (p.R579*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000967330" "0" "50" "13" "49027250" "49027250" "subst" "2.86313E-5" "02327" "LPAR6_000028" "g.49027250A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000967331" "0" "90" "13" "49033826" "49033826" "dup" "0" "02325" "RB1_000263" "g.49033826dup" "" "" "" "RB1(NM_000321.3):c.1963dupT (p.Y655Lfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000967334" "0" "90" "13" "49039339" "49039339" "subst" "0" "02325" "RB1_001268" "g.49039339A>G" "" "" "" "RB1(NM_000321.3):c.2326-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000972463" "11" "70" "13" "48947612" "48947612" "subst" "0" "04677" "RB1_002187" "g.48947612T>C" "" "{PMID:Gregersen 2024:38897371}" "" "" "low penetrance variant carried by nine non-affected family members; tumor shows methylation RB1 promotor on other allele" "Germline" "" "" "0" "" "" "g.48373476T>C" "{CV:1067622}" "likely pathogenic (!)" "ACMG"
"0000980699" "0" "90" "13" "48953730" "48953730" "subst" "4.0935E-6" "02325" "RB1_000003" "g.48953730C>T" "" "" "" "RB1(NM_000321.3):c.1333C>T (p.R445*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000980700" "0" "90" "13" "49030373" "49030373" "dup" "0" "02325" "RB1_001640" "g.49030373dup" "" "" "" "RB1(NM_000321.3):c.1848dupA (p.G617Rfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001000605" "0" "30" "13" "48878107" "48878107" "subst" "0.000131398" "01804" "RB1_000493" "g.48878107C>T" "" "" "" "RB1(NM_000321.2):c.59C>T (p.P20L, p.(Pro20Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000606" "0" "30" "13" "49027154" "49027154" "subst" "0" "01804" "LPAR6_000029" "g.49027154A>G" "" "" "" "RB1(NM_000321.2):c.1721A>G (p.(Lys574Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001015090" "0" "90" "13" "48937094" "48937094" "subst" "0" "02325" "RB1_001677" "g.48937094G>A" "" "" "" "RB1(NM_000321.3):c.861+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001026336" "0" "90" "13" "48916843" "48916843" "subst" "0" "02325" "RB1_001135" "g.48916843G>T" "" "" "" "RB1(NM_000321.3):c.373G>T (p.E125*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001026337" "0" "90" "13" "48955416" "48955416" "dup" "0" "02325" "LPAR6_000030" "g.48955416dup" "" "" "" "RB1(NM_000321.3):c.1532dupA (p.D511Efs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001026338" "0" "90" "13" "49047527" "49047527" "subst" "0" "02325" "RB1_000750" "g.49047527G>A" "" "" "" "RB1(NM_000321.3):c.2520+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001039720" "0" "90" "13" "48953787" "48953787" "subst" "0" "02325" "RB1_001892" "g.48953787G>T" "" "" "" "RB1(NM_000321.3):c.1389+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001039721" "0" "90" "13" "49027156" "49027156" "subst" "0" "02325" "RB1_000128" "g.49027156C>T" "" "" "" "RB1(NM_000321.3):c.1723C>T (p.Q575*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001039722" "0" "30" "13" "49039125" "49039125" "subst" "0" "01804" "LPAR6_000031" "g.49039125C>A" "" "" "" "RB1(NM_000321.3):c.2212-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039723" "0" "70" "13" "49047493" "49047493" "subst" "0" "02325" "LPAR6_000032" "g.49047493C>G" "" "" "" "RB1(NM_000321.3):c.2490-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001046444" "0" "90" "13" "48878067" "48878067" "subst" "0" "02325" "RB1_001672" "g.48878067C>T" "" "" "" "RB1(NM_000321.3):c.19C>T (p.R7*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001046445" "0" "90" "13" "48878067" "48878067" "dup" "0" "02325" "RB1_000449" "g.48878067dup" "" "" "" "RB1(NM_000321.3):c.19dupC (p.R7Pfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001046446" "0" "90" "13" "48934151" "48934151" "subst" "0" "02325" "LPAR6_000033" "g.48934151A>C" "" "" "" "RB1(NM_000321.3):c.608-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001046447" "0" "50" "13" "48939110" "48939110" "subst" "0" "02325" "LPAR6_000034" "g.48939110A>G" "" "" "" "RB1(NM_000321.3):c.939+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001046448" "0" "90" "13" "48954354" "48954355" "del" "0" "02325" "LPAR6_000035" "g.48954354_48954355del" "" "" "" "RB1(NM_000321.3):c.1475_1476delAG (p.E492Gfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001046449" "0" "90" "13" "49030485" "49030485" "subst" "0" "02325" "RB1_000402" "g.49030485G>T" "" "" "" "RB1(NM_000321.3):c.1960G>T (p.V654L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001046450" "0" "70" "13" "49033965" "49033965" "subst" "0" "02325" "LPAR6_000036" "g.49033965A>T" "" "" "" "RB1(NM_000321.3):c.2102A>T (p.D701V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001046451" "0" "70" "13" "49047531" "49047531" "subst" "0" "02325" "RB1_000385" "g.49047531G>A" "" "" "" "RB1(NM_000321.3):c.2520+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## 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.
## Note: Only showing Variants_On_Transcript columns active for Genes RB1
## Count = 1914
"{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}"
"0000040272" "00017482" "30" "517" "0" "517" "0" "c.517T>C" "r.(?)" "p.(Tyr173His)" "3"
"0000169293" "00017482" "00" "2393" "0" "2393" "0" "c.2393G>A" "r.(?)" "p.(Arg798Gln)" ""
"0000169357" "00017482" "00" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661Gln)" ""
"0000249614" "00017482" "70" "1498" "4" "1498" "4" "c.1498+4A>G" "r.spl?" "p.?" ""
"0000249671" "00017482" "90" "1331" "0" "1331" "0" "c.1331A>G" "r.(?)" "p.(Gln444Arg)" ""
"0000250120" "00017482" "10" "2463" "0" "2463" "0" "c.2463A>G" "r.(?)" "p.(Thr821=)" ""
"0000250229" "00017482" "10" "1390" "-11" "1390" "-11" "c.1390-11A>G" "r.(=)" "p.(=)" ""
"0000250314" "00017482" "30" "1707" "0" "1707" "0" "c.1707A>G" "r.(?)" "p.(Leu569=)" ""
"0000254957" "00017482" "30" "2289" "0" "2289" "0" "c.2289A>T" "r.(?)" "p.(Arg763Ser)" ""
"0000297576" "00017482" "90" "1215" "1" "1215" "1" "c.1215+1G>A" "r.spl?" "p.?" ""
"0000297577" "00017482" "90" "174" "0" "175" "0" "c.174_175del" "r.(?)" "p.(Ala59IlefsTer50)" ""
"0000297578" "00017482" "10" "2664" "-10" "2664" "-10" "c.2664-10T>A" "r.(=)" "p.(=)" ""
"0000299252" "00017482" "30" "1422" "-8" "1422" "-8" "c.1422-8del" "r.(=)" "p.(=)" ""
"0000299253" "00017482" "30" "1961" "-12" "1961" "-12" "c.1961-12T>C" "r.(=)" "p.(=)" ""
"0000299254" "00017482" "30" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Trp)" ""
"0000299255" "00017482" "10" "2212" "-12" "2212" "-12" "c.2212-12G>T" "r.(=)" "p.(=)" ""
"0000299257" "00017482" "30" "2212" "-14" "2212" "-14" "c.2212-14C>T" "r.(=)" "p.(=)" ""
"0000299258" "00017482" "30" "2212" "-15" "2212" "-14" "c.2212-15_2212-14del" "r.(=)" "p.(=)" ""
"0000299259" "00017482" "30" "2212" "-9" "2212" "-9" "c.2212-9C>T" "r.(=)" "p.(=)" ""
"0000299260" "00017482" "30" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Val87Ile)" ""
"0000299261" "00017482" "10" "380" "10" "380" "10" "c.380+10C>G" "r.(=)" "p.(=)" ""
"0000299262" "00017482" "10" "380" "12" "380" "12" "c.380+12T>C" "r.(=)" "p.(=)" ""
"0000299263" "00017482" "30" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(Ala14=)" ""
"0000299264" "00017482" "30" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" ""
"0000306782" "00017482" "30" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621Cys)" ""
"0000306783" "00017482" "50" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621His)" ""
"0000368271" "00017482" "90" "34" "0" "74" "0" "c.34_74del" "r.(?)" "p.(Thr12Alafs*5)" ""
"0000406061" "00017482" "90" "92" "0" "93" "0" "c.92_93del" "r.(?)" "p.(Glu31Glyfs*17)" "1"
"0000406062" "00017482" "90" "1742" "0" "1742" "0" "c.1742del" "r.(?)" "p.(Gly581Aspfs*30)" "18"
"0000406063" "00017482" "90" "1398" "0" "1398" "0" "c.1398del" "r.(?)" "p.(Glu466Aspfs*12)" "15"
"0000406064" "00017482" "90" "83" "0" "83" "0" "c.83C>G" "r.(?)" "p.(Pro28Arg)" "1"
"0000406065" "00017482" "90" "1972" "0" "1972" "0" "c.1972G>C" "r.(?)" "p.(Ala658Pro)" "20"
"0000406068" "00017482" "90" "1961" "-1" "1961" "-1" "c.1961-1G>C" "r.spl" "p.?" "19i"
"0000406069" "00017482" "90" "-235" "0" "-235" "0" "c.-235G>A" "r.(=)" "p.(=)" "_1"
"0000484828" "00017482" "99" "2497" "0" "2497" "0" "c.2497del" "r.(?)" "p.(Val833Tyrfs*16)" "24"
"0000484829" "00017482" "55" "1960" "2" "1960" "2" "c.1960+2T>C" "r.spl" "p.?" "19i"
"0000484830" "00017482" "99" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "14"
"0000484831" "00017482" "55" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Ser567Leu)" "18"
"0000484832" "00017482" "99" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Arg787*)" "23"
"0000484833" "00017482" "99" "2244" "0" "2244" "0" "c.2244del" "r.(?)" "p.(Glu748Aspfs*6)" "22"
"0000484834" "00017482" "55" "1049" "1" "1049" "1" "c.1049+1G>T" "r.spl" "p.?" "10i"
"0000484835" "00017482" "55" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358*)" "11"
"0000484836" "00017482" "55" "2107" "-2" "2107" "-2" "c.2107-2A>G" "r.spl" "p.?" "20i"
"0000484837" "00017482" "99" "2242" "0" "2242" "0" "c.2242G>T" "r.(?)" "p.(Glu748*)" "22"
"0000484838" "00017482" "55" "1215" "1" "1215" "1" "c.1215+1G>A" "r.spl" "p.?" "12i"
"0000484839" "00017482" "99" "1736" "0" "1745" "0" "c.1736_1745del" "r.(?)" "p.(Arg579Glnfs*29)" "18"
"0000484840" "00017482" "99" "1949" "0" "1957" "0" "c.1949_1957del" "r.(?)" "p.(Phe650*)" "19"
"0000484841" "00017482" "55" "-189" "0" "-189" "0" "c.-189G>T" "r.(=)" "p.(=)" "_1"
"0000484842" "00017482" "55" "-198" "0" "-198" "0" "c.-198G>A" "r.(=)" "p.(=)" "_1"
"0000484843" "00017482" "55" "1981" "0" "1981" "0" "c.1981C>T" "r.(?)" "p.(Arg661Trp)" "20"
"0000484844" "00017482" "99" "2023" "0" "2023" "0" "c.2023G>T" "r.(?)" "p.(Glu675*)" "20"
"0000484845" "00017482" "55" "2211" "0" "2211" "0" "c.2211G>A" "r.2107_2211del" "p.(Glu737=)" "21"
"0000484846" "00017482" "55" "-150" "0" "-150" "0" "c.-150G>C" "r.(=)" "p.(=)" "_1"
"0000484847" "00017482" "55" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(=)" "1"
"0000484848" "00017482" "99" "72" "0" "78" "0" "c.72_78del" "r.(?)" "p.(Pro26Leufs*37)" "1"
"0000484849" "00017482" "99" "88" "0" "88" "0" "c.88G>T" "r.(?)" "p.(Glu30*)" "1"
"0000484850" "00017482" "99" "371" "0" "372" "0" "c.371_372del" "r.(?)" "p.(Ile124Argfs*6)" "3"
"0000484851" "00017482" "99" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Gln62*)" "2"
"0000484852" "00017482" "99" "194" "0" "194" "0" "c.194dup" "r.(?)" "p.(Ile66Aspfs*44)" "2"
"0000484853" "00017482" "99" "195" "0" "196" "0" "c.195_196del" "r.(?)" "p.(Lys65Asnfs*44)" "2"
"0000484854" "00017482" "99" "203" "0" "203" "0" "c.203del" "r.(?)" "p.(Asp68Valfs*9)" "2"
"0000484855" "00017482" "99" "209" "0" "210" "0" "c.209_210del" "r.(?)" "p.(Val70Glufs*39)" "2"
"0000484856" "00017482" "99" "210" "0" "211" "0" "c.210_211insG" "r.(?)" "p.(Arg71Glufs*39)" "2"
"0000484857" "00017482" "55" "214" "0" "214" "0" "c.214G>C" "r.(?)" "p.(Glu72Gln)" "2"
"0000484858" "00017482" "99" "225" "0" "225" "0" "c.225del" "r.(?)" "p.(Trp75Cysfs*2)" "2"
"0000484859" "00017482" "99" "229" "0" "229" "0" "c.229del" "r.(?)" "p.(Thr77Leufs*34)" "2"
"0000484860" "00017482" "55" "245" "0" "245" "0" "c.245C>A" "r.(?)" "p.(Ser82*)" "2"
"0000484861" "00017482" "99" "287" "0" "287" "0" "c.287del" "r.(?)" "p.(Lys96Argfs*15)" "3"
"0000484862" "00017482" "99" "288" "0" "289" "0" "c.288_289del" "r.(?)" "p.(Glu97Thrfs*12)" "3"
"0000484863" "00017482" "99" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Trp99*)" "3"
"0000484864" "00017482" "99" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Trp99*)" "3"
"0000484865" "00017482" "99" "305" "0" "306" "0" "c.305_306del" "r.(?)" "p.(Cys102Tyrfs*7)" "3"
"0000484866" "00017482" "99" "335" "0" "339" "0" "c.335_339del" "r.(?)" "p.(Glu112Valfs*6)" "3"
"0000484867" "00017482" "99" "357" "0" "358" "0" "c.357_358insACTTT" "r.(?)" "p.(Leu120Thrfs*7)" "3"
"0000484868" "00017482" "99" "368" "0" "368" "0" "c.368dup" "r.(?)" "p.(Asn123Lysfs*8)" "3"
"0000484869" "00017482" "99" "382" "0" "383" "0" "c.382_383del" "r.(?)" "p.(Val128Profs*2)" "4"
"0000484870" "00017482" "99" "401" "0" "404" "0" "c.401_404del" "r.(?)" "p.(Leu134*)" "4"
"0000484871" "00017482" "99" "406" "0" "406" "0" "c.406A>T" "r.(?)" "p.(Lys136*)" "4"
"0000484872" "00017482" "99" "409" "0" "409" "0" "c.409G>T" "r.(?)" "p.(Glu137*)" "4"
"0000484873" "00017482" "55" "411" "0" "411" "0" "c.411A>T" "r.(?)" "p.(Glu137Asp)" "4"
"0000484874" "00017482" "99" "475" "0" "478" "0" "c.475_478dup" "r.(?)" "p.(Ala160Valfs*12)" "4"
"0000484875" "00017482" "99" "484" "0" "485" "0" "c.484_485delinsC" "r.(?)" "p.(Phe162Profs*13)" "4"
"0000484876" "00017482" "99" "528" "0" "532" "0" "c.528_532dup" "r.(?)" "p.(Ser178Asnfs*10)" "5"
"0000484877" "00017482" "99" "553" "0" "553" "0" "c.553dup" "r.(?)" "p.(Ile185Asnfs*18)" "6"
"0000484878" "00017482" "55" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Ile185Thr)" "6"
"0000484879" "00017482" "99" "596" "0" "596" "0" "c.596T>A" "r.(?)" "p.(Leu199*)" "6"
"0000484880" "00017482" "99" "602" "0" "602" "0" "c.602del" "r.(?)" "p.(Ala201Valfs*13)" "6"
"0000484881" "00017482" "99" "644" "0" "644" "0" "c.644C>A" "r.(?)" "p.(Ser215*)" "7"
"0000484882" "00017482" "99" "678" "0" "678" "0" "c.678del" "r.(?)" "p.(Phe226Leufs*38)" "7"
"0000484883" "00017482" "99" "699" "0" "702" "0" "c.699_702dup" "r.(?)" "p.(Leu235Valfs*7)" "7"
"0000484884" "00017482" "99" "720" "0" "721" "0" "c.720_721dup" "r.(?)" "p.(Thr241Lysfs*24)" "7"
"0000484885" "00017482" "99" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "8"
"0000484886" "00017482" "55" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255*)" "8"
"0000484887" "00017482" "99" "767" "0" "767" "0" "c.767del" "r.(?)" "p.(Gly256Valfs*8)" "8"
"0000484888" "00017482" "99" "767" "0" "767" "0" "c.767dup" "r.(?)" "p.(Gln257Serfs*14)" "8"
"0000484889" "00017482" "99" "775" "0" "775" "0" "c.775del" "r.(?)" "p.(Arg259Glyfs*5)" "8"
"0000484890" "00017482" "99" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Gln266*)" "8"
"0000484891" "00017482" "99" "880" "0" "895" "0" "c.880_895dup" "r.(?)" "p.(Phe299*)" "9"
"0000484892" "00017482" "99" "909" "0" "909" "0" "c.909del" "r.(?)" "p.(Gly304Aspfs*3)" "9"
"0000484893" "00017482" "55" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "9"
"0000484894" "00017482" "99" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "10"
"0000484895" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "-" "10i"
"0000484896" "00017482" "99" "967" "0" "967" "0" "c.967G>T" "r.(?)" "p.(Glu323*)" "10"
"0000484897" "00017482" "99" "979" "0" "1033" "0" "c.979_1033dup" "r.(?)" "p.(Thr345Lysfs*3)" "10"
"0000484898" "00017482" "55" "1040" "0" "1049" "4" "c.1040_1049+4del" "r.spl" "p.?" "10"
"0000484899" "00017482" "99" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Gln354*)" "11"
"0000484900" "00017482" "99" "1083" "0" "1085" "0" "c.1083_1085delinsGAGG" "r.(?)" "p.(Asn361Lysfs*3)" "11"
"0000484901" "00017482" "99" "1096" "0" "1096" "0" "c.1096del" "r.(?)" "p.(Val366*)" "11"
"0000484902" "00017482" "99" "1121" "0" "1122" "0" "c.1121_1122del" "r.(?)" "p.(Pro374Argfs*2)" "11"
"0000484903" "00017482" "99" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Gln384*)" "12"
"0000484904" "00017482" "99" "1159" "0" "1159" "0" "c.1159dup" "r.(?)" "p.(Met387Asnfs*8)" "12"
"0000484905" "00017482" "99" "1166" "0" "1166" "0" "c.1166T>A" "r.(?)" "p.(Leu389*)" "12"
"0000484906" "00017482" "99" "1167" "0" "1174" "0" "c.1167_1174del" "r.(?)" "p.(Leu389Phefs*3)" "12"
"0000484907" "00017482" "99" "1179" "0" "1180" "0" "c.1179_1180del" "r.(?)" "p.(Ser393Argfs*12)" "12"
"0000484908" "00017482" "99" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Gln395*)" "12"
"0000484909" "00017482" "99" "1218" "0" "1239" "0" "c.1218_1239del" "r.(?)" "p.(Asn406Lysfs*4)" "13"
"0000484910" "00017482" "99" "1236" "0" "1236" "0" "c.1236del" "r.(?)" "p.(Glu413Lysfs*4)" "13"
"0000484911" "00017482" "99" "1237" "0" "1237" "0" "c.1237G>T" "r.(?)" "p.(Glu413*)" "13"
"0000484912" "00017482" "99" "1237" "0" "1237" "0" "c.1237del" "r.(?)" "p.(Glu413Lysfs*4)" "13"
"0000484913" "00017482" "99" "1262" "0" "1262" "0" "c.1262del" "r.(?)" "p.(Asp421Valfs*2)" "13"
"0000484914" "00017482" "99" "1264" "0" "1264" "0" "c.1264dup" "r.(?)" "p.(Ile422Asnfs*6)" "13"
"0000484915" "00017482" "99" "1290" "0" "1290" "0" "c.1290del" "r.(?)" "p.(Phe430Leufs*27)" "13"
"0000484916" "00017482" "99" "1330" "0" "1330" "0" "c.1330del" "r.(?)" "p.(Gln444Serfs*13)" "13"
"0000484917" "00017482" "55" "1332" "0" "1332" "0" "c.1332G>A" "r.1216_12332del" "p.(Gln444=)" "13"
"0000484918" "00017482" "99" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455*)" "14"
"0000484919" "00017482" "55" "1370" "0" "1370" "0" "c.1370T>G" "r.(?)" "p.(Met457Arg)" "14"
"0000484920" "00017482" "99" "1388" "0" "1388" "0" "c.1388C>G" "r.(?)" "p.(Ser463*)" "14"
"0000484921" "00017482" "99" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Arg467*)" "15"
"0000484922" "00017482" "99" "1413" "0" "1416" "0" "c.1413_1416dup" "r.(?)" "p.(Phe473Lysfs*3)" "15"
"0000484923" "00017482" "99" "1420" "0" "1421" "28" "c.1420_1421+28del" "r.spl" "p.?" "15"
"0000484924" "00017482" "55" "1439" "0" "1441" "0" "c.1439_1441del" "r.(?)" "p.(Asn480del)" "16"
"0000484925" "00017482" "99" "1439" "0" "1439" "0" "c.1439dup" "r.(?)" "p.(Asn480Lysfs*13)" "16"
"0000484926" "00017482" "99" "1445" "0" "1446" "0" "c.1445_1446del" "r.(?)" "p.(Phe482Serfs*10)" "16"
"0000484927" "00017482" "99" "1450" "0" "1451" "0" "c.1450_1451del" "r.(?)" "p.(Met484Valfs*8)" "16"
"0000484928" "00017482" "99" "1457" "0" "1460" "0" "c.1457_1460del" "r.(?)" "p.(Leu486Trpfs*8)" "16"
"0000484929" "00017482" "99" "1467" "0" "1467" "0" "c.1467C>A" "r.(?)" "p.(Cys489*)" "16"
"0000484930" "00017482" "99" "1490" "0" "1491" "0" "c.1490_1491del" "r.(?)" "p.(Thr497Ilefs*2)" "16"
"0000484931" "00017482" "99" "1494" "0" "1494" "0" "c.1494T>A" "r.(?)" "p.(Tyr498*)" "16"
"0000484932" "00017482" "99" "1494" "0" "1495" "0" "c.1494_1495dup" "r.(?)" "p.(Ser499Ilefs*21)" "16"
"0000484933" "00017482" "99" "1504" "0" "1508" "0" "c.1504_1508delinsTCTCAAGAATCTCAAGAA" "r.(?)" "p.(Thr502Serfs*10)" "17"
"0000484934" "00017482" "99" "1535" "0" "1535" "0" "c.1535del" "r.(?)" "p.(Leu512Cysfs*7)" "17"
"0000484935" "00017482" "99" "1557" "0" "1558" "0" "c.1557_1558insATTTAAT" "r.(?)" "p.(Val520Ilefs*2)" "17"
"0000484936" "00017482" "99" "1585" "0" "1585" "0" "c.1585dup" "r.(?)" "p.(Tyr529Leufs*26)" "17"
"0000484937" "00017482" "55" "1589" "0" "1589" "0" "c.1589A>G" "r.(?)" "p.(Lys530Arg)" "17"
"0000484938" "00017482" "55" "1618" "0" "1635" "0" "c.1618_1635del" "r.(?)" "p.(Gly540_Glu545del)" "17"
"0000484939" "00017482" "99" "1630" "0" "1630" "0" "c.1630del" "r.(?)" "p.(Arg544Glufs*3)" "17"
"0000484940" "00017482" "99" "1643" "0" "1644" "0" "c.1643_1644dup" "r.(?)" "p.(His549Asnfs*3)" "17"
"0000484941" "00017482" "55" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(His549Tyr)" "17"
"0000484942" "00017482" "99" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552*)" "17"
"0000484943" "00017482" "99" "1659" "0" "1659" "0" "c.1659T>A" "r.(?)" "p.(Cys553*)" "17"
"0000484944" "00017482" "99" "1660" "0" "1660" "0" "c.1660G>T" "r.(?)" "p.(Glu554*)" "17"
"0000484945" "00017482" "99" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Arg556*)" "17"
"0000484946" "00017482" "55" "1704" "0" "1706" "0" "c.1704_1706del" "r.(?)" "p.(Leu569del)" "18"
"0000484947" "00017482" "99" "1707" "0" "1707" "0" "c.1707del" "r.(?)" "p.(Leu569Phefs*42)" "18"
"0000484948" "00017482" "99" "1726" "0" "1729" "0" "c.1726_1729del" "r.(?)" "p.(Ser576Argfs*34)" "18"
"0000484949" "00017482" "99" "1723" "0" "1723" "0" "c.1723C>T" "r.(?)" "p.(Gln575*)" "18"
"0000484950" "00017482" "99" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Arg579*)" "18"
"0000484951" "00017482" "99" "1732" "0" "1738" "0" "c.1732_1738dup" "r.(?)" "p.(Glu580Glyfs*7)" "18"
"0000484952" "00017482" "99" "1738" "0" "1738" "0" "c.1738G>T" "r.(?)" "p.(Glu580*)" "18"
"0000484953" "00017482" "99" "1760" "0" "1769" "0" "c.1760_1769del" "r.(?)" "p.(Glu587Valfs*21)" "18"
"0000484954" "00017482" "99" "1810" "0" "1811" "0" "c.1810_1811dup" "r.(?)" "p.(Asp604Glufs*8)" "18"
"0000484955" "00017482" "99" "1816" "0" "1816" "0" "c.1816dup" "r.(?)" "p.(Tyr606Leufs*47)" "19"
"0000484956" "00017482" "99" "1828" "0" "1829" "0" "c.1828_1829del" "r.(?)" "p.(Val610Lysfs*42)" "19"
"0000484957" "00017482" "99" "1861" "0" "1862" "0" "c.1861_1862del" "r.(?)" "p.(Arg621Cysfs*31)" "19"
"0000484958" "00017482" "99" "1887" "0" "1888" "0" "c.1887_1888del" "r.(?)" "p.(Glu629Aspfs*23)" "19"
"0000484959" "00017482" "99" "1891" "0" "1891" "0" "c.1891C>T" "r.(?)" "p.(Gln631*)" "19"
"0000484960" "00017482" "99" "1892" "0" "1893" "0" "c.1892_1893ins1860_1891" "r.(?)" "p.Ala632ArgfsX21" "19"
"0000484961" "00017482" "99" "1901" "0" "1901" "0" "c.1901C>G" "r.(?)" "p.(Ser634*)" "19"
"0000484962" "00017482" "55" "1903" "0" "1903" "0" "c.1903G>C" "r.(?)" "p.(Ala635Pro)" "19"
"0000484963" "00017482" "99" "1915" "0" "1915" "0" "c.1915C>T" "r.(?)" "p.(Gln639*)" "19"
"0000484964" "00017482" "99" "1937" "0" "1937" "0" "c.1937del" "r.(?)" "p.(Ser646Phefs*12)" "19"
"0000484965" "00017482" "55" "1939" "0" "1940" "0" "c.1939_1940del" "r.(?)" "p.(Leu647Phefs*5)" "19"
"0000484966" "00017482" "99" "1945" "0" "1949" "0" "c.1945_1949del" "r.(?)" "p.(Phe650*)" "19"
"0000484967" "00017482" "55" "1961" "0" "1961" "0" "c.1961T>A" "r.(?)" "p.(Val654Glu)" "20"
"0000484968" "00017482" "55" "1981" "0" "1984" "0" "c.1981_1984del" "r.(?)" "p.(Arg661*)" "20"
"0000484969" "00017482" "55" "1985" "0" "1985" "0" "c.1985T>C" "r.(?)" "p.(Leu662Pro)" "20"
"0000484970" "00017482" "99" "2013" "0" "2013" "0" "c.2013dup" "r.(?)" "p.(Glu672*)" "20"
"0000484971" "00017482" "55" "2018" "0" "2018" "0" "c.2018A>C" "r.(?)" "p.(His673Pro)" "20"
"0000484972" "00017482" "99" "2028" "0" "2040" "0" "c.2028_2040del" "r.(?)" "p.(Leu676Phefs*16)" "20"
"0000484973" "00017482" "55" "2051" "0" "2051" "0" "c.2051del" "r.(?)" "p.(Phe684Serfs*12)" "20"
"0000484974" "00017482" "99" "2039" "0" "2054" "0" "c.2039_2054dup" "r.(?)" "p.(Gln685Hisfs*12)" "20"
"0000484975" "00017482" "55" "2054" "0" "2054" "0" "c.2054A>C" "r.(?)" "p.(Gln685Pro)" "20"
"0000484976" "00017482" "99" "2065" "0" "2066" "0" "c.2065_2066insN[100]" "r.(?)" "p.Asn690AlafsX10" ""
"0000484977" "00017482" "99" "2084" "0" "2084" "0" "c.2084del" "r.(?)" "p.(Met695Argfs*10)" "20"
"0000484978" "00017482" "99" "2088" "0" "2088" "0" "c.2088del" "r.(?)" "p.(Asp697Thrfs*8)" "20"
"0000484979" "00017482" "55" "2117" "0" "2117" "0" "c.2117G>A" "r.(?)" "p.(Cys706Tyr)" "21"
"0000484980" "00017482" "55" "2134" "0" "2134" "0" "c.2134T>C" "r.(?)" "p.(Cys712Arg)" "21"
"0000484981" "00017482" "99" "2143" "0" "2143" "0" "c.2143A>T" "r.(?)" "p.(Lys715*)" "21"
"0000484982" "00017482" "99" "2148" "0" "2148" "0" "c.2148dup" "r.(?)" "p.(Ile717Tyrfs*4)" "21"
"0000484983" "00017482" "99" "2158" "0" "2158" "0" "c.2158A>T" "r.(?)" "p.(Lys720*)" "21"
"0000484984" "00017482" "99" "2176" "0" "2176" "0" "c.2176del" "r.(?)" "p.(Thr726Glnfs*18)" "21"
"0000484985" "00017482" "99" "2184" "0" "2184" "0" "c.2184C>A" "r.(?)" "p.(Tyr728*)" "21"
"0000484986" "00017482" "99" "2196" "0" "2196" "0" "c.2196del" "r.(?)" "p.(His733Metfs*11)" "21"
"0000484987" "00017482" "99" "2200" "0" "2200" "0" "c.2200dup" "r.(?)" "p.(Ala734Glyfs*17)" "21"
"0000484988" "00017482" "99" "2244" "0" "2245" "0" "c.2244_2245insATAGAATC" "r.(?)" "p.(Tyr749Ilefs*8)" "22"
"0000484989" "00017482" "55" "2264" "0" "2266" "0" "c.2264_2266del" "r.(?)" "p.(Phe755del)" "22"
"0000484990" "00017482" "99" "2307" "0" "2308" "0" "c.2307_2308delinsTT" "r.(?)" "p.(Leu769_Lys928delinsPhe)" "22"
"0000484991" "00017482" "99" "2311" "0" "2311" "0" "c.2311dup" "r.(?)" "p.(Tyr771Leufs*24)" "22"
"0000484992" "00017482" "99" "2330" "0" "2330" "0" "c.2330del" "r.(?)" "p.(Pro777Leufs*33)" "23"
"0000484993" "00017482" "99" "2347" "0" "2353" "0" "c.2347_2353del" "r.(?)" "p.(Pro783Phefs*25)" "23"
"0000484994" "00017482" "55" "2363" "0" "2363" "0" "c.2363G>C" "r.(?)" "p.(Ser788Thr)" "23"
"0000484995" "00017482" "99" "2376" "0" "2376" "0" "c.2376del" "r.(?)" "p.(Pro793Leufs*17)" "23"
"0000484996" "00017482" "99" "2380" "0" "2389" "0" "c.2380_2389del" "r.(?)" "p.(Ser794Tyrfs*13)" "23"
"0000484997" "00017482" "99" "2386" "0" "2395" "0" "c.2386_2395del" "r.(?)" "p.(Pro796Phefs*11)" "23"
"0000484998" "00017482" "99" "2415" "0" "2415" "0" "c.2415del" "r.(?)" "p.(Tyr805*)" "23"
"0000484999" "00017482" "99" "2425" "0" "2425" "0" "c.2425del" "r.(?)" "p.(Leu809*)" "23"
"0000485000" "00017482" "99" "2439" "0" "2440" "0" "c.2439_2440dup" "r.(?)" "p.(Lys814Ilefs*13)" "23"
"0000485001" "00017482" "99" "2447" "0" "2447" "0" "c.2447C>G" "r.(?)" "p.(Ser816*)" "23"
"0000485002" "00017482" "99" "2502" "0" "2502" "0" "c.2502delinsTGTCAATG" "r.(?)" "p.(Ile835Valfs*5)" "24"
"0000485003" "00017482" "99" "2513" "0" "2513" "0" "c.2513C>G" "r.(?)" "p.(Ser838*)" "24"
"0000485004" "00017482" "99" "2516" "0" "2516" "0" "c.2516del" "r.(?)" "p.(Phe839Serfs*10)" "24"
"0000485005" "00017482" "99" "2550" "0" "2550" "0" "c.2550dup" "r.(?)" "p.(Met851Aspfs*4)" "25"
"0000485006" "00017482" "55" "265" "-3" "265" "-3" "c.265-3del" "r.spl?" "p.?" "2i"
"0000485007" "00017482" "55" "380" "1" "380" "1" "c.380+1G>T" "r.spl" "p.?" "3i"
"0000485008" "00017482" "55" "380" "1" "380" "1" "c.380+1G>A" "r.spl" "p.?" "3i"
"0000485009" "00017482" "55" "500" "2" "500" "2" "c.500+2del" "r.spl" "p.?" "4i"
"0000485010" "00017482" "55" "501" "-1" "501" "-1" "c.501-1G>A" "r.spl" "p.?" "4i"
"0000485011" "00017482" "55" "607" "1" "607" "1" "c.607+1G>T" "r.spl" "p.?" "6i"
"0000485012" "00017482" "55" "607" "1" "607" "1" "c.607+1G>C" "r.spl" "p.?" "6i"
"0000485013" "00017482" "55" "861" "15" "861" "15" "c.861+15T>C" "r.(?)" "p.(=)" "8i"
"0000485014" "00017482" "55" "940" "-1" "940" "-1" "c.940-1G>C" "r.spl" "p.?" "9i"
"0000485015" "00017482" "55" "1050" "-2" "1050" "-2" "c.1050-2A>G" "r.spl" "p.?" "10i"
"0000485016" "00017482" "55" "1217" "-2" "1217" "-2" "c.1217-2A>G" "r.spl" "p.?" "12i"
"0000485017" "00017482" "55" "1217" "-1" "1217" "-1" "c.1217-1G>A" "r.spl" "p.?" "12i"
"0000485018" "00017482" "55" "1215" "1" "1215" "1" "c.1215+1G>C" "r.spl" "p.?" "12i"
"0000485019" "00017482" "55" "1421" "12" "1421" "32" "c.1421+12_1421+32del" "r.spl" "p.(=)" "15i"
"0000485020" "00017482" "55" "1332" "1" "1332" "1" "c.1332+1G>A" "skip exon 13" "p.?" "13i"
"0000485021" "00017482" "55" "1332" "2" "1332" "2" "c.1332+2T>C" "r.spl" "p.?" "13i"
"0000485022" "00017482" "55" "1332" "1" "1332" "1" "c.1332+1G>T" "r.spl" "p.?" "13i"
"0000485023" "00017482" "55" "1389" "5" "1389" "5" "c.1389+5G>A" "r.spl?" "p.?" "14i"
"0000485024" "00017482" "55" "1422" "-2" "1422" "-2" "c.1422-2A>G" "r.spl" "p.?" "15i"
"0000485025" "00017482" "55" "1498" "5" "1498" "5" "c.1498+5G>A" "r.spl?" "p.?" "16i"
"0000485026" "00017482" "55" "1695" "3" "1695" "3" "c.1695+3A>C" "r.spl?" "p.?" "17i"
"0000485027" "00017482" "55" "1696" "-1" "1696" "-1" "c.1696-1G>A" "r.spl" "p.?" "17i"
"0000485028" "00017482" "55" "1695" "6" "1695" "6" "c.1695+6T>G" "r.spl" "p.(=)" "17i"
"0000485029" "00017482" "55" "1695" "2" "1695" "2" "c.1695+2T>C" "r.spl" "p.?" "17i"
"0000485030" "00017482" "55" "1814" "1" "1814" "1" "c.1814+1G>C" "r.spl" "p.?" "18i"
"0000485031" "00017482" "55" "1815" "-4" "1815" "-3" "c.1815-4_1815-3dup" "r.spl" "p.?" "18i"
"0000485032" "00017482" "55" "1814" "11" "1814" "11" "c.1814+11T>C" "r.(?)" "p.(=)" "18i"
"0000485033" "00017482" "55" "1960" "1" "1960" "1" "c.1960+1del" "r.spl" "p.?" "19i"
"0000485034" "00017482" "55" "1960" "1" "1960" "1" "c.1960+1G>A" "r.spl" "p.?" "19i"
"0000485035" "00017482" "55" "1961" "-2" "1961" "-2" "c.1961-2A>G" "skip exon 19" "p.?" "19i"
"0000485036" "00017482" "55" "2212" "-1" "2212" "-1" "c.2212-1G>A" "r.spl" "p.?" "21i"
"0000485037" "00017482" "55" "2211" "5" "2211" "5" "c.2211+5G>A" "r.spl?" "p.?" "21"
"0000485038" "00017482" "55" "2520" "3" "2520" "6" "c.2520+3_2520+6del" "r.spl?" "p.?" "24i"
"0000485039" "00017482" "55" "2520" "1" "2520" "1" "c.2520+1del" "r.spl" "p.?" "24i"
"0000485040" "00017482" "55" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Gln344*)" "10"
"0000485041" "00017482" "55" "940" "-1" "940" "-1" "c.940-1G>T" "r.spl" "p.?" "9i"
"0000485042" "00017482" "99" "954" "0" "954" "0" "c.954del" "r.(?)" "p.(Lys319Asnfs*13)" "10"
"0000485043" "00017482" "99" "1004" "0" "1004" "0" "c.1004T>A" "r.(?)" "p.(Leu335*)" "10"
"0000485044" "00017482" "99" "1342" "0" "1342" "0" "c.1342del" "r.(?)" "p.(Gly449Glufs*8)" "14"
"0000485045" "00017482" "55" "1333" "-2" "1333" "-2" "c.1333-2A>G" "r.spl" "p.?" ""
"0000485046" "00017482" "99" "1192" "0" "1192" "0" "c.1192G>T" "r.(?)" "p.(Glu398*)" "12"
"0000485047" "00017482" "99" "772" "0" "776" "0" "c.772_776del" "r.(?)" "p.(Asn258Glufs*11)" "8"
"0000485048" "00017482" "99" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Gln597*)" "18"
"0000485049" "00017482" "99" "1959" "0" "1959" "0" "c.1959dup" "r.(?)" "p.(Val654Serfs*14)" "19"
"0000485050" "00017482" "99" "1855" "0" "1855" "0" "c.1855del" "r.(?)" "p.(Thr619Leufs*4)" "19"
"0000485051" "00017482" "55" "2211" "1" "2211" "1" "c.2211+1G>T" "skip exon 21" "p.?" "21i"
"0000485052" "00017482" "99" "1968" "0" "1968" "0" "c.1968del" "r.(?)" "p.(Leu657*)" "20"
"0000485053" "00017482" "99" "2087" "0" "2090" "0" "c.2087_2090dup" "r.(?)" "p.(Asp697Glufs*25)" "20"
"0000485054" "00017482" "55" "2058" "0" "2066" "0" "c.2058_2066del" "r.(?)" "p.(His686_Leu688del)" "20"
"0000485055" "00017482" "99" "1974" "0" "1984" "0" "c.1974_1984delinsGGCT" "r.(?)" "p.(Tyr659Alafs*2)" "20"
"0000485056" "00017482" "55" "1339" "0" "1339" "0" "c.1339A>C" "r.(?)" "p.(Lys447Gln)" "14"
"0000485057" "00017482" "99" "1850" "0" "1850" "0" "c.1850del" "r.(?)" "p.(Gly617Valfs*6)" "19"
"0000485058" "00017482" "55" "607" "1" "607" "1" "c.607+1G>A" "r.spl" "p.?" "6i"
"0000485059" "00017482" "99" "605" "0" "608" "0" "c.605_608del" "r.(?)" "p.(Lys202ArgfsTer11)" ""
"0000485060" "00017482" "55" "2548" "0" "2548" "0" "c.2548C>T" "r.(?)" "p.(Gln850*)" "25"
"0000485061" "00017482" "55" "138" "0" "138" "0" "c.138del" "r.spl" "p.(Arg46SerfsTer19)" "1i"
"0000485062" "00017482" "55" "1421" "1" "1421" "1" "c.1421+1del" "r.spl" "p.?" "15"
"0000485063" "00017482" "55" "1468" "0" "1468" "0" "c.1468G>T" "r.(?)" "p.(Ala490Ser)" "16"
"0000485064" "00017482" "99" "1475" "0" "1475" "0" "c.1475del" "r.(?)" "p.(Glu492Glyfs*3)" "16"
"0000485065" "00017482" "55" "2489" "5" "2489" "5" "c.2489+5G>A" "skip" "p.?" "23i"
"0000485066" "00017482" "55" "1465" "0" "1465" "0" "c.1465T>C" "r.(?)" "p.(Cys489Arg)" "16"
"0000485067" "00017482" "55" "2520" "1" "2520" "1" "c.2520+1G>T" "r.spl" "p.?" "24i"
"0000485068" "00017482" "55" "658" "0" "658" "0" "c.658C>G" "r.spl?" "p.(Leu220Val)" "7"
"0000485069" "00017482" "99" "2288" "0" "2289" "0" "c.2288_2289del" "r.(?)" "p.(Arg763Thrfs*31)" "22"
"0000485070" "00017482" "99" "1998" "0" "1999" "0" "c.1998_1999del" "r.(?)" "p.(Cys666*)" "20"
"0000485071" "00017482" "99" "533" "0" "533" "0" "c.533del" "r.(?)" "p.(Ser178Thrfs*8)" "5"
"0000485072" "00017482" "99" "987" "0" "987" "0" "c.987del" "r.(?)" "p.(Asp330Ilefs*2)" "10"
"0000485073" "00017482" "99" "1103" "0" "1103" "0" "c.1103del" "r.(?)" "p.(Val368Glufs*12)" "11"
"0000485074" "00017482" "99" "1402" "0" "1412" "0" "c.1402_1412dup" "r.(?)" "p.(Gln471Hisfs*11)" "15"
"0000485075" "00017482" "99" "1902" "0" "1903" "0" "c.1902_1903insTC" "r.(?)" "p.(Ala635Serfs*9)" "19"
"0000485076" "00017482" "99" "1883" "0" "1884" "0" "c.1883_1884del" "r.(?)" "p.(Ala628Glyfs*24)" "19"
"0000485077" "00017482" "55" "1960" "2" "1960" "3" "c.1960+2_1960+3insG" "r.spl" "p.?" "19i"
"0000485078" "00017482" "99" "1942" "0" "1942" "0" "c.1942del" "r.(?)" "p.(Ser648Hisfs*10)" "19"
"0000485079" "00017482" "99" "1963" "0" "1963" "0" "c.1963dup" "r.(?)" "p.(Tyr655Leufs*13)" "20"
"0000485080" "00017482" "99" "1209" "0" "1213" "0" "c.1209_1213del" "r.(?)" "p.(Tyr403*)" "12"
"0000485081" "00017482" "99" "1390" "0" "1448" "0" "c.1390_1448del" "r.(?)" "p.Glu464TyrfsX8" ""
"0000485082" "00017482" "99" "2242" "0" "2242" "0" "c.2242del" "r.(?)" "p.(Glu748Serfs*6)" "22"
"0000485083" "00017482" "55" "1688" "0" "1688" "0" "c.1688G>C" "r.(?)" "p.(Trp563Ser)" "17"
"0000485084" "00017482" "55" "1421" "2" "1421" "2" "c.1421+2T>C" "r.spl" "p.?" "15i"
"0000485085" "00017482" "99" "844" "0" "844" "0" "c.844G>T" "r.(?)" "p.(Glu282*)" "8"
"0000485086" "00017482" "55" "1814" "1" "1814" "1" "c.1814+1G>A" "simple skip" "p.?" "18i"
"0000485087" "00017482" "55" "2105" "0" "2105" "0" "c.2105A>G" "r.(?)" "p.(Gln702Arg)" "20"
"0000485088" "00017482" "99" "2370" "0" "2370" "0" "c.2370C>G" "r.(?)" "p.(Tyr790*)" "23"
"0000485089" "00017482" "99" "1701" "0" "1744" "0" "c.1701_1744dup" "r.(?)" "p.(Pro582Hisfs*44)" "18"
"0000485090" "00017482" "55" "2325" "1" "2325" "1" "c.2325+1del" "r.spl" "p.?" "22i"
"0000485091" "00017482" "55" "1331" "0" "1331" "0" "c.1331A>G" "r.spl" "p.(Gln444Arg)" "13"
"0000485092" "00017482" "99" "160" "0" "160" "0" "c.160G>T" "r.(?)" "p.(Glu54*)" "2"
"0000485093" "00017482" "99" "2370" "0" "2370" "0" "c.2370C>A" "r.(?)" "p.(Tyr790*)" "23"
"0000485094" "00017482" "99" "1328" "0" "1328" "0" "c.1328C>A" "r.(?)" "p.(Ser443*)" "13"
"0000485095" "00017482" "99" "952" "0" "952" "0" "c.952dup" "r.(?)" "p.(Ser318Phefs*2)" "10"
"0000485096" "00017482" "99" "1458" "0" "1458" "0" "c.1458del" "r.(?)" "p.(Leu486Phefs*9)" "16"
"0000485097" "00017482" "55" "1346" "0" "1346" "0" "c.1346del" "r.(?)" "p.(Gly449Glufs*8)" "14"
"0000485098" "00017482" "99" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Trp563*)" "17"
"0000485099" "00017482" "99" "1190" "0" "1190" "0" "c.1190C>A" "r.(?)" "p.(Ser397*)" "12"
"0000485100" "00017482" "55" "2104" "0" "2104" "0" "c.2104C>A" "r.spl?" "p.(Gln702Lys)" "20"
"0000485101" "00017482" "99" "1154" "0" "1154" "0" "c.1154T>A" "r.(?)" "p.(Leu385*)" "12"
"0000485102" "00017482" "99" "1729" "0" "1737" "0" "c.1729_1737del" "r.(?)" "p.(Lys577_Arg579del)" "18"
"0000485103" "00017482" "55" "1814" "2" "1814" "2" "c.1814+2T>G" "r.spl" "p.?" "18i"
"0000485104" "00017482" "99" "786" "0" "786" "0" "c.786del" "r.(?)" "p.(Ile263*)" "8"
"0000485105" "00017482" "99" "1057" "0" "1061" "0" "c.1057_1061dup" "r.(?)" "p.(Arg355Hisfs*14)" "11"
"0000485106" "00017482" "55" "1332" "1" "1332" "1" "c.1332+1del" "r.spl" "p.?" ""
"0000485107" "00017482" "99" "1199" "0" "1199" "0" "c.1199dup" "r.(?)" "p.(Ile401Aspfs*5)" "12"
"0000485108" "00017482" "99" "1239" "0" "1254" "0" "c.1239_1254del" "r.(?)" "p.(Ser414*)" "13"
"0000485109" "00017482" "99" "1987" "0" "1994" "0" "c.1987_1994del" "r.(?)" "p.(Asn663Leufs*2)" "20"
"0000485110" "00017482" "99" "2394" "0" "2394" "0" "c.2394dup" "r.(?)" "p.(Ile799Aspfs*16)" "23"
"0000485111" "00017482" "99" "2327" "0" "2329" "0" "c.2327_2329delinsTT" "r.(?)" "p.(Pro776Leufs*34)" "23"
"0000485112" "00017482" "99" "1338" "0" "1338" "0" "c.1338C>A" "r.(?)" "p.(Tyr446*)" "14"
"0000485113" "00017482" "55" "1332" "0" "1332" "0" "c.1332G>C" "r.1216_12332del" "p.(Gln444His)" "13"
"0000485114" "00017482" "55" "2489" "1" "2489" "1" "c.2489+1G>C" "r.spl" "p.?" "23i"
"0000485115" "00017482" "99" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Gln436*)" "13"
"0000485116" "00017482" "55" "1687" "0" "1687" "0" "c.1687T>C" "r.(?)" "p.(Trp563Arg)" "17"
"0000485117" "00017482" "99" "1240" "0" "1240" "0" "c.1240del" "r.(?)" "p.(Ser414Valfs*3)" "13"
"0000485118" "00017482" "55" "940" "-2" "940" "-2" "c.940-2A>G" "r.spl" "p.?" "9i"
"0000485119" "00017482" "55" "1421" "1" "1421" "1" "c.1421+1G>A" "r.spl" "p.?" "15i"
"0000485120" "00017482" "55" "1494" "0" "1494" "0" "c.1494T>G" "r.(?)" "p.(Tyr498*)" "16"
"0000485121" "00017482" "55" "1960" "0" "1960" "0" "c.1960G>C" "r.spl" "p.(Val654Leu)" "19"
"0000485122" "00017482" "55" "2211" "1" "2211" "1" "c.2211+1G>C" "skip exon 21" "p.?" "21i"
"0000485123" "00017482" "99" "1446" "0" "1446" "0" "c.1446dup" "r.(?)" "p.(His483Serfs*10)" "16"
"0000485124" "00017482" "99" "45" "0" "70" "0" "c.45_70del" "r.(?)" "p.(Glu19Profs*3)" "1"
"0000485125" "00017482" "99" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Gln35*)" "1"
"0000485126" "00017482" "55" "951" "0" "954" "0" "c.951_954del" "r.(?)" "p.(Ser318Asnfs*13)" ""
"0000485127" "00017482" "99" "220" "0" "221" "0" "c.220_221del" "r.(?)" "p.(Ala74Leufs*35)" "2"
"0000485128" "00017482" "55" "265" "-2" "265" "-2" "c.265-2A>G" "r.spl" "p.?" "2i"
"0000485129" "00017482" "99" "1970" "0" "1970" "0" "c.1970dup" "r.(?)" "p.(Ala658Serfs*10)" "20"
"0000485130" "00017482" "55" "1456" "0" "1457" "0" "c.1456_1457del" "r.(?)" "p.(Leu486Ilefs*6)" "16"
"0000485131" "00017482" "55" "380" "0" "380" "0" "c.380G>C" "r.spl" "p.(Ser127Thr)" "3"
"0000485132" "00017482" "55" "1451" "0" "1470" "0" "c.1451_1470delinsCA" "r.(?)" "p.(Met484_Ala490delinsThr)" "16"
"0000485133" "00017482" "99" "2308" "0" "2308" "0" "c.2308C>T" "r.(?)" "p.(Gln770*)" "22"
"0000485134" "00017482" "55" "1695" "5" "1695" "5" "c.1695+5G>C" "r.spl" "p.?" ""
"0000485135" "00017482" "55" "2325" "1" "2325" "1" "c.2325+1G>A" "skip exon 21" "p.?" "22i"
"0000485136" "00017482" "55" "2490" "-7" "2490" "-7" "c.2490-7T>G" "r.2490_2520del" "p.(=)" "23i"
"0000485137" "00017482" "55" "138" "-11" "141" "0" "c.138-11_141del" "r.spl" "p.?" "1i"
"0000485138" "00017482" "55" "1498" "1" "1498" "1" "c.1498+1G>A" "skip exon 17" "p.?" "16i"
"0000485139" "00017482" "99" "1064" "0" "1065" "0" "c.1064_1065del" "r.(?)" "p.(Arg355Asnfs*6)" "11"
"0000485140" "00017482" "99" "1161" "0" "1161" "0" "c.1161dup" "r.(?)" "p.(Ile388Aspfs*7)" "12"
"0000485141" "00017482" "99" "2390" "0" "2390" "0" "c.2390del" "r.(?)" "p.(Leu797Tyrfs*13)" "23"
"0000485142" "00017482" "55" "2326" "-1" "2326" "-1" "c.2326-1G>T" "r.spl" "p.?" "22i"
"0000485143" "00017482" "99" "2273" "0" "2273" "0" "c.2273C>A" "r.(?)" "p.(Ser758*)" "22"
"0000485144" "00017482" "99" "286" "0" "287" "0" "c.286_287delinsC" "r.(?)" "p.(Lys96Argfs*15)" "3"
"0000485145" "00017482" "99" "20" "0" "20" "0" "c.20dup" "r.(?)" "p.(Thr9Asnfs*22)" "1"
"0000485146" "00017482" "99" "429" "0" "430" "0" "c.429_430del" "r.(?)" "p.(Lys143Asnfs*2)" "4"
"0000485147" "00017482" "99" "342" "0" "345" "0" "c.342_345del" "r.(?)" "p.(Phe115Leufs*9)" "3"
"0000485148" "00017482" "55" "334" "0" "334" "0" "c.334G>T" "r.(?)" "p.(Glu112*)" "3"
"0000485149" "00017482" "55" "2117" "0" "2119" "0" "c.2117_2119dup" "r.(?)" "p.(Cys706dup)" ""
"0000485150" "00017482" "99" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Gln444*)" "13"
"0000485151" "00017482" "99" "852" "0" "852" "0" "c.852dup" "r.(?)" "p.(Ile285Tyrfs*3)" "8"
"0000485152" "00017482" "55" "1696" "-3" "1696" "-3" "c.1696-3T>G" "r.spl?" "p.?" "17i"
"0000485153" "00017482" "55" "2263" "0" "2263" "0" "c.2263T>A" "r.(?)" "p.(Phe755Ile)" "22"
"0000485154" "00017482" "99" "368" "0" "368" "0" "c.368del" "r.(?)" "p.(Asn123Thrfs*2)" "3"
"0000485155" "00017482" "55" "264" "1" "264" "1" "c.264+1G>T" "r.spl" "p.?" "2i"
"0000485156" "00017482" "99" "1292" "0" "1295" "0" "c.1292_1295dup" "r.(?)" "p.(Lys432Asnfs*2)" "13"
"0000485157" "00017482" "55" "1422" "-1" "1422" "-1" "c.1422-1G>C" "r.spl" "p.?" "15i"
"0000485158" "00017482" "99" "1166" "0" "1166" "0" "c.1166dup" "r.(?)" "p.(Leu389Phefs*6)" "12"
"0000485159" "00017482" "55" "2212" "-2" "2212" "-2" "c.2212-2A>G" "r.spl" "p.?" "21i"
"0000485160" "00017482" "55" "2663" "2" "2663" "2" "c.2663+2T>A" "r.spl" "p.?" ""
"0000485161" "00017482" "99" "1959" "0" "1959" "0" "c.1959del" "r.(?)" "p.(Val654Cysfs*4)" "19"
"0000485162" "00017482" "99" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Glu322*)" "10"
"0000485163" "00017482" "99" "289" "0" "289" "0" "c.289G>T" "r.(?)" "p.(Glu97*)" "3"
"0000485164" "00017482" "99" "54" "0" "79" "0" "c.54_79del" "r.(?)" "p.(Glu19Profs*3)" "1"
"0000485165" "00017482" "99" "738" "0" "738" "0" "c.738dup" "r.(?)" "p.(Asn247*)" "8"
"0000485166" "00017482" "55" "264" "0" "264" "0" "c.264G>A" "r.[264a>g,138_264del]" "p.(Leu88=)" "2"
"0000485167" "00017482" "55" "1949" "0" "1949" "0" "c.1949T>C" "r.(?)" "p.(Phe650Ser)" "19"
"0000485168" "00017482" "99" "869" "0" "869" "0" "c.869dup" "r.(?)" "p.(Asn290Lysfs*20)" "9"
"0000485169" "00017482" "99" "1005" "0" "1005" "0" "c.1005del" "r.(?)" "p.(Leu335Phefs*14)" "10"
"0000485170" "00017482" "55" "2490" "-26" "2490" "-26" "c.2490-26A>T" "r.(?)" "p.(=)" "23i"
"0000485171" "00017482" "55" "1147" "0" "1147" "0" "c.1147dup" "r.(?)" "p.(Gln383Profs*12)" ""
"0000485172" "00017482" "55" "994" "0" "994" "0" "c.994del" "r.(?)" "p.(Asp332Metfs*17)" ""
"0000485173" "00017482" "99" "2243" "0" "2244" "0" "c.2243_2244dup" "r.(?)" "p.(Tyr749Serfs*6)" "22"
"0000485174" "00017482" "99" "2209" "0" "2209" "0" "c.2209G>T" "r.(?)" "p.(Glu737*)" "21"
"0000485175" "00017482" "99" "973" "0" "973" "0" "c.973del" "r.(?)" "p.(Tyr325Ilefs*7)" "10"
"0000485176" "00017482" "55" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Lys)" "1"
"0000485177" "00017482" "55" "853" "0" "861" "5" "c.853_861+5del" "r.spl" "p.?" "8"
"0000485178" "00017482" "99" "1222" "0" "1222" "0" "c.1222del" "r.(?)" "p.(Thr408Glnfs*2)" "13"
"0000485179" "00017482" "55" "2211" "5" "2211" "5" "c.2211+5G>T" "r.spl?" "p.?" "21i"
"0000485180" "00017482" "99" "1796" "0" "1796" "0" "c.1796dup" "r.(?)" "p.(Asn599Lysfs*54)" "18"
"0000485181" "00017482" "55" "939" "0" "939" "0" "c.939G>A" "r.[862_939del,939g>a]" "p.(Glu313=)" "9"
"0000485182" "00017482" "99" "2236" "0" "2236" "0" "c.2236G>T" "r.(?)" "p.(Glu746*)" "22"
"0000485183" "00017482" "99" "420" "0" "420" "0" "c.420del" "r.(?)" "p.(Ser141Valfs*12)" "4"
"0000485184" "00017482" "55" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Gln702*)" "20"
"0000485185" "00017482" "55" "1498" "5" "1498" "5" "c.1498+5G>T" "r.spl?" "p.?" "16i"
"0000485186" "00017482" "99" "1147" "0" "1147" "0" "c.1147C>T" "r.(?)" "p.(Gln383*)" "12"
"0000485187" "00017482" "99" "717" "0" "717" "0" "c.717T>G" "r.(?)" "p.(Tyr239*)" "7"
"0000485188" "00017482" "55" "2520" "5" "2520" "5" "c.2520+5G>A" "r.spl?" "p.?" "24i"
"0000485189" "00017482" "55" "2489" "1" "2489" "1" "c.2489+1G>T" "r.spl" "p.?" "23i"
"0000485190" "00017482" "99" "1196" "0" "1196" "0" "c.1196dup" "r.(?)" "p.(Asn399Lysfs*7)" "12"
"0000485191" "00017482" "55" "1695" "6" "1695" "6" "c.1695+6T>C" "r.spl" "p.(=)" ""
"0000485192" "00017482" "99" "1653" "0" "1653" "0" "c.1653del" "r.(?)" "p.(Glu551Aspfs*60)" "17"
"0000485193" "00017482" "55" "2212" "-1" "2212" "-1" "c.2212-1G>C" "r.spl" "p.?" "21i"
"0000485194" "00017482" "99" "1885" "0" "1885" "0" "c.1885G>T" "r.(?)" "p.(Glu629*)" "19"
"0000485195" "00017482" "55" "540" "-2" "540" "-2" "c.540-2A>G" "r.spl" "p.?" "5i"
"0000485196" "00017482" "55" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Thr307Ile)" "9"
"0000485197" "00017482" "55" "1346" "0" "1346" "0" "c.1346G>A" "r.(?)" "p.(Gly449Glu)" "14"
"0000485198" "00017482" "55" "1574" "0" "1574" "0" "c.1574C>G" "r.(?)" "p.(Ala525Gly)" "17"
"0000485199" "00017482" "55" "1811" "0" "1811" "0" "c.1811A>G" "r.(?)" "p.(Asp604Gly)" "18"
"0000485200" "00017482" "55" "1960" "0" "1960" "0" "c.1960G>T" "r.spl" "p.(Val654Leu)" "19"
"0000485201" "00017482" "33" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Trp)" ""
"0000485202" "00017482" "55" "1970" "0" "1970" "0" "c.1970T>A" "r.(?)" "p.(Leu657Gln)" "20"
"0000485203" "00017482" "55" "2063" "0" "2063" "0" "c.2063T>C" "r.(?)" "p.(Leu688Pro)" "20"
"0000485204" "00017482" "55" "2111" "0" "2111" "0" "c.2111T>G" "r.(?)" "p.(Met704Arg)" "21"
"0000485205" "00017482" "99" "401" "0" "401" "0" "c.401del" "r.(?)" "p.(Leu134Tyrfs*2)" "4"
"0000485206" "00017482" "99" "402" "0" "403" "0" "c.402_403dup" "r.(?)" "p.(Leu135Hisfs*2)" "4"
"0000485207" "00017482" "55" "380" "1" "380" "1" "c.380+1del" "r.spl" "p.?" "3i"
"0000485208" "00017482" "55" "862" "-10" "862" "-10" "c.862-10T>C" "r.spl" "p.(=)" "8i"
"0000485209" "00017482" "55" "1472" "0" "1472" "0" "c.1472T>C" "r.(?)" "p.(Leu491Pro)" "16"
"0000485210" "00017482" "55" "862" "-10" "862" "-10" "c.862-10T>G" "r.spl" "p.(=)" "8i"
"0000485211" "00017482" "55" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.Ser249X" ""
"0000485212" "00017482" "55" "717" "0" "718" "1" "c.717_718+1delinsA" "r.spl" "p.?" ""
"0000485213" "00017482" "55" "605" "0" "608" "0" "c.605_608delinsN[10]" "r.spl" "p.?" ""
"0000485214" "00017482" "55" "45" "0" "79" "0" "c.45_79del" "r.(?)" "p.(Ala16Profs*3)" "1"
"0000485215" "00017482" "99" "206" "0" "206" "0" "c.206del" "r.(?)" "p.(His69Leufs*8)" "2"
"0000485216" "00017482" "55" "2107" "-1" "2107" "-1" "c.2107-1G>A" "r.spl" "p.?" "20i"
"0000485217" "00017482" "55" "1389" "6" "1389" "6" "c.1389+6T>A" "r.spl" "p.(=)" "14i"
"0000485218" "00017482" "99" "1204" "0" "1204" "0" "c.1204del" "r.(?)" "p.(Ser402Profs*8)" "12"
"0000485219" "00017482" "99" "612" "0" "612" "0" "c.612del" "r.(?)" "p.(Val205Tyrfs*9)" "7"
"0000485220" "00017482" "99" "1023" "0" "1024" "0" "c.1023_1024del" "r.(?)" "p.(Lys341Asnfs*5)" "10"
"0000485221" "00017482" "99" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Gly449Glufs*8)" "14"
"0000485222" "00017482" "55" "1215" "0" "1215" "0" "c.1215C>T" "r.(?)" "p.(=)" "12"
"0000485223" "00017482" "99" "2363" "0" "2384" "0" "c.2363_2384dup" "r.(?)" "p.(Arg798Glnfs*4)" "23"
"0000485224" "00017482" "55" "137" "1" "137" "1" "c.137+1G>T" "r.spl" "p.?" "1i"
"0000485225" "00017482" "99" "2237" "0" "2241" "0" "c.2237_2241del" "r.(?)" "p.(Glu746Glyfs*3)" "22"
"0000485226" "00017482" "55" "1498" "2" "1498" "2" "c.1498+2T>G" "r.spl" "p.?" "16i"
"0000485227" "00017482" "99" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Gln176*)" "5"
"0000485228" "00017482" "99" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121*)" "3"
"0000485229" "00017482" "55" "1597" "0" "1597" "0" "c.1597G>T" "r.(?)" "p.(Glu533*)" "17"
"0000485230" "00017482" "55" "1050" "-1" "1050" "-1" "c.1050-1G>C" "r.spl" "p.?" "10i"
"0000485231" "00017482" "99" "664" "0" "665" "0" "c.664_665del" "r.(?)" "p.(Val222Profs*2)" "7"
"0000485232" "00017482" "99" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Gly617Valfs*6)" "19"
"0000485233" "00017482" "99" "1641" "0" "1647" "0" "c.1641_1647del" "r.(?)" "p.(Lys548*)" "17"
"0000485234" "00017482" "99" "1588" "0" "1588" "0" "c.1588A>T" "r.(?)" "p.(Lys530*)" "17"
"0000485235" "00017482" "99" "67" "0" "104" "0" "c.67_104del" "r.(?)" "p.(Pro23Glyfs*13)" "1"
"0000485236" "00017482" "99" "19" "0" "19" "0" "c.19dup" "r.(?)" "p.(Arg7Profs*24)" "1"
"0000485237" "00017482" "55" "501" "-1" "501" "-1" "c.501-1G>T" "r.spl" "p.?" "4i"
"0000485238" "00017482" "99" "1735" "0" "1735" "0" "c.1735del" "r.(?)" "p.(Arg579Glufs*32)" "18"
"0000485239" "00017482" "99" "2035" "0" "2036" "0" "c.2035_2036dup" "r.(?)" "p.(Ile680Serfs*17)" "20"
"0000485240" "00017482" "99" "745" "0" "746" "0" "c.745_746insN[8]" "r.(?)" "p.?" ""
"0000485241" "00017482" "99" "2127" "0" "2127" "0" "c.2127T>G" "r.(?)" "p.(Tyr709*)" "21"
"0000485242" "00017482" "99" "1532" "0" "1536" "0" "c.1532_1536del" "r.(?)" "p.(Asp511Valfs*10)" "17"
"0000485243" "00017482" "99" "469" "0" "469" "0" "c.469del" "r.(?)" "p.(Val157Tyrfs*18)" "4"
"0000485244" "00017482" "99" "982" "0" "983" "0" "c.982_983del" "r.(?)" "p.(Asn328*)" "10"
"0000485245" "00017482" "55" "138" "-2" "138" "-2" "c.138-2A>G" "r.spl" "p.?" "1i"
"0000485246" "00017482" "99" "1247" "0" "1247" "0" "c.1247del" "r.(?)" "p.(Leu416Argfs*4)" "13"
"0000485247" "00017482" "99" "65" "0" "65" "0" "c.65delinsGA" "r.(?)" "p.(Ala22Glyfs*9)" "1"
"0000485248" "00017482" "55" "380" "0" "380" "0" "c.380G>A" "r.spl" "p.(Ser127Asn)" "3"
"0000485249" "00017482" "99" "240" "0" "240" "0" "c.240del" "r.(?)" "p.(Val81Phefs*30)" "2"
"0000485250" "00017482" "99" "2110" "0" "2111" "0" "c.2110_2111del" "r.(?)" "p.(Met704Aspfs*16)" "21"
"0000485251" "00017482" "99" "1775" "0" "1788" "0" "c.1775_1788del" "r.(?)" "p.(Leu592Profs*3)" "18"
"0000485252" "00017482" "55" "-197" "0" "-196" "0" "c.-197_-196delinsTT" "r.(=)" "p.(=)" "_1"
"0000485253" "00017482" "99" "2451" "0" "2451" "0" "c.2451del" "r.(?)" "p.(Gly818Valfs*8)" "23"
"0000485254" "00017482" "55" "607" "1" "607" "1" "c.607+1del" "r.spl" "p.?" "6i"
"0000485255" "00017482" "55" "2490" "-40" "2490" "-40" "c.2490-40G>T" "r.(?)" "p.(=)" "23i"
"0000485256" "00017482" "55" "2198" "0" "2198" "0" "c.2198A>G" "r.(?)" "p.(His733Arg)" "21"
"0000485257" "00017482" "99" "1706" "0" "1706" "0" "c.1706T>G" "r.(?)" "p.(Leu569*)" "18"
"0000485258" "00017482" "55" "2490" "-1" "2490" "0" "c.2490-1_2490del" "r.spl" "p.?" "23i"
"0000485259" "00017482" "99" "1195" "0" "1196" "0" "c.1195_1196del" "r.(?)" "p.(Asn399Serfs*6)" "12"
"0000485260" "00017482" "55" "848" "0" "861" "5" "c.848_861+5del" "r.spl" "p.?" "8"
"0000485261" "00017482" "99" "975" "0" "975" "0" "c.975T>G" "r.(?)" "p.(Tyr325*)" "10"
"0000485262" "00017482" "99" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.(Trp516*)" "17"
"0000485263" "00017482" "55" "2501" "0" "2501" "0" "c.2501C>G" "r.(?)" "p.(Ser834*)" "24"
"0000485264" "00017482" "99" "1762" "0" "1763" "0" "c.1762_1763insN[4]" "r.(?)" "p.?" ""
"0000485265" "00017482" "55" "381" "-2" "381" "-2" "c.381-2A>C" "r.spl" "p.?" "3i"
"0000485266" "00017482" "55" "1389" "2" "1389" "2" "c.1389+2T>C" "r.spl" "p.?" "14i"
"0000485267" "00017482" "55" "1421" "20" "1421" "33" "c.1421+20_1421+33del" "r.spl" "p.(=)" "15i"
"0000485268" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "25i"
"0000485269" "00017482" "55" "2664" "-10" "2664" "-10" "c.2664-10T>A" "r.(?)" "p.(=)" "25i"
"0000485270" "00017482" "99" "128" "0" "128" "0" "c.128dup" "r.(?)" "p.(Leu44Serfs*5)" "1"
"0000485271" "00017482" "99" "718" "0" "718" "0" "c.718A>T" "r.(?)" "p.(Lys240*)" "7"
"0000485272" "00017482" "99" "110" "0" "110" "0" "c.110dup" "r.(?)" "p.(Ser37Argfs*12)" "1"
"0000485273" "00017482" "55" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Pro20Leu)" "1"
"0000485274" "00017482" "55" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Trp75*)" "2"
"0000485275" "00017482" "99" "460" "0" "461" "0" "c.460_461dup" "r.(?)" "p.(Tyr155Serfs*21)" "4"
"0000485276" "00017482" "55" "1972" "0" "1986" "0" "c.1972_1986del" "r.(?)" "p.(Ala658_Leu662del)" "20"
"0000485277" "00017482" "99" "1024" "0" "1024" "0" "c.1024del" "r.(?)" "p.(Thr342Leufs*7)" "10"
"0000485278" "00017482" "99" "978" "0" "978" "0" "c.978del" "r.(?)" "p.(Asn328Ilefs*4)" "10"
"0000485279" "00017482" "99" "888" "0" "888" "0" "c.888del" "r.(?)" "p.(Phe296Leufs*5)" "9"
"0000485280" "00017482" "55" "938" "0" "938" "0" "c.938A>G" "r.(?)" "p.(Glu313Gly)" "9"
"0000485281" "00017482" "99" "1356" "0" "1356" "0" "c.1356del" "r.(?)" "p.(Leu452Phefs*5)" "14"
"0000485282" "00017482" "99" "1156" "0" "1156" "0" "c.1156dup" "r.(?)" "p.(Met386Asnfs*9)" "12"
"0000485283" "00017482" "99" "1131" "0" "1131" "0" "c.1131del" "r.(?)" "p.(Val378Leufs*2)" "12"
"0000485284" "00017482" "55" "1389" "1" "1389" "1" "c.1389+1G>A" "r.spl" "p.?" "14i"
"0000485285" "00017482" "55" "1421" "18" "1421" "38" "c.1421+18_1421+38del" "r.spl" "p.(=)" "15i"
"0000485286" "00017482" "55" "1633" "0" "1633" "0" "c.1633G>T" "r.(?)" "p.(Glu545*)" ""
"0000485287" "00017482" "99" "1396" "0" "1396" "0" "c.1396G>T" "r.(?)" "p.(Glu466*)" "15"
"0000485288" "00017482" "99" "2139" "0" "2139" "0" "c.2139del" "r.(?)" "p.(Val714*)" "21"
"0000485289" "00017482" "55" "2106" "2" "2106" "5" "c.2106+2_2106+5del" "r.spl" "p.?" "20i"
"0000485290" "00017482" "55" "2211" "1" "2211" "1" "c.2211+1G>A" "r.spl" "p.?" "21i"
"0000485291" "00017482" "99" "2480" "0" "2480" "0" "c.2480del" "r.(?)" "p.(Pro827Glnfs*6)" "23"
"0000485292" "00017482" "99" "2498" "0" "2498" "0" "c.2498dup" "r.(?)" "p.(Ser834Ilefs*4)" "24"
"0000485293" "00017482" "99" "219" "0" "220" "0" "c.219_220dup" "r.(?)" "p.(Ala74Glufs*4)" "2"
"0000485294" "00017482" "55" "1333" "-1" "1333" "-1" "c.1333-1G>A" "r.spl" "p.?" "13i"
"0000485295" "00017482" "55" "380" "35" "380" "35" "c.380+35T>G" "r.(?)" "p.(=)" "3i"
"0000485296" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "11i"
"0000485297" "00017482" "55" "1390" "-14" "1390" "-14" "c.1390-14A>T" "r.(?)" "p.(=)" "14i"
"0000485298" "00017482" "55" "1695" "21147" "1695" "21147" "c.1695+21147C>T" "r.(?)" "p.(=)" "17i"
"0000485299" "00017482" "99" "1242" "0" "1243" "0" "c.1242_1243insG" "r.(?)" "p.(Ile415Aspfs*13)" "13"
"0000485300" "00017482" "99" "1593" "0" "1593" "0" "c.1593delinsTTT" "r.(?)" "p.(Ile532Leufs*12)" "17"
"0000485301" "00017482" "55" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Asp718Asn)" "21"
"0000485302" "00017482" "99" "1592" "0" "1593" "0" "c.1592_1593insTT" "r.(?)" "p.(Ile532*)" "17"
"0000485303" "00017482" "55" "718" "5" "718" "5" "c.718+5G>A" "r.spl?" "p.?" "7i"
"0000485304" "00017482" "99" "1814" "32" "1814" "32" "c.1814+32A>G" "r.(?)" "p.(=)" "18i"
"0000485305" "00017482" "99" "683" "0" "684" "0" "c.683_684dup" "r.(?)" "p.(Leu229Asnfs*36)" "7"
"0000485306" "00017482" "55" "1498" "0" "1498" "0" "c.1498A>G" "r.[1498g>a,1422_1498del]" "p.(Arg500Gly)" "16"
"0000485307" "00017482" "99" "2391" "0" "2391" "0" "c.2391dup" "r.(?)" "p.(Arg798Thrfs*17)" "23"
"0000485308" "00017482" "99" "1909" "0" "1909" "0" "c.1909C>T" "r.(?)" "p.(Gln637*)" "19"
"0000485309" "00017482" "99" "217" "0" "220" "0" "c.217_220del" "r.(?)" "p.(Arg73Leufs*3)" "2"
"0000485310" "00017482" "99" "576" "0" "577" "0" "c.576_577del" "r.(?)" "p.(Lys192Asnfs*10)" "6"
"0000485311" "00017482" "99" "606" "0" "606" "0" "c.606del" "r.(?)" "p.(Glu204Lysfs*10)" "6"
"0000485312" "00017482" "99" "727" "0" "731" "0" "c.727_731delinsN[18]" "r.(?)" "p.Val243X" ""
"0000485313" "00017482" "99" "885" "0" "888" "0" "c.885_888del" "r.(?)" "p.(Asn295Lysfs*5)" "9"
"0000485314" "00017482" "99" "1800" "0" "1800" "0" "c.1800del" "r.(?)" "p.(His600Glnfs*11)" "18"
"0000485315" "00017482" "99" "1873" "0" "1873" "0" "c.1873del" "r.(?)" "p.(Thr625Leufs*18)" "19"
"0000485316" "00017482" "55" "2388" "0" "2388" "0" "c.2388del" "r.(?)" "p.(Leu797Tyrfs*13)" "23"
"0000485317" "00017482" "55" "607" "2" "607" "2" "c.607+2T>G" "r.spl" "p.?" "6i"
"0000485318" "00017482" "55" "719" "-9" "719" "-9" "c.719-9C>G" "r.718_719insttttacag" "p.(=)" "7i"
"0000485319" "00017482" "55" "861" "0" "861" "0" "c.861G>C" "r.[861g>c,719_861del]" "p.(Glu287Asp)" "8"
"0000485320" "00017482" "55" "610" "0" "610" "0" "c.610del" "r.spl" "p.(Glu204LysfsTer10)" "6i"
"0000485321" "00017482" "99" "1139" "0" "1145" "0" "c.1139_1145del" "r.(?)" "p.(Asn380Thrfs*4)" "12"
"0000485322" "00017482" "99" "1155" "0" "1165" "0" "c.1155_1165del" "r.(?)" "p.(Leu385Phefs*6)" "12"
"0000485323" "00017482" "99" "1287" "0" "1287" "0" "c.1287dup" "r.(?)" "p.(Phe430Ilefs*3)" "13"
"0000485324" "00017482" "99" "1282" "0" "1282" "0" "c.1282del" "r.(?)" "p.(Glu428Argfs*29)" "13"
"0000485325" "00017482" "99" "1613" "0" "1613" "0" "c.1613del" "r.(?)" "p.(Ala538Glufs*5)" "17"
"0000485326" "00017482" "99" "1710" "0" "1710" "0" "c.1710dup" "r.(?)" "p.(Asp571*)" "18"
"0000485327" "00017482" "99" "1803" "0" "1803" "0" "c.1803del" "r.(?)" "p.(Ala602Glnfs*9)" "18"
"0000485328" "00017482" "99" "2253" "0" "2253" "0" "c.2253del" "r.(?)" "p.(Ile752Leufs*2)" "22"
"0000485329" "00017482" "99" "2227" "0" "2228" "0" "c.2227_2228del" "r.(?)" "p.(Leu743Aspfs*7)" "22"
"0000485330" "00017482" "99" "2126" "0" "2137" "0" "c.2126_2137delinsN[6]" "r.(?)" "p.?" ""
"0000485331" "00017482" "99" "2113" "0" "2113" "0" "c.2113del" "r.(?)" "p.(Met705Cysfs*10)" "21"
"0000485332" "00017482" "99" "2022" "0" "2022" "0" "c.2022del" "r.(?)" "p.(Glu675Asnfs*2)" "20"
"0000485333" "00017482" "99" "2031" "0" "2031" "0" "c.2031del" "r.(?)" "p.(Glu677Aspfs*19)" "20"
"0000485334" "00017482" "99" "54" "0" "73" "0" "c.54_73del" "r.(?)" "p.(Glu19Alafs*5)" "1"
"0000485335" "00017482" "99" "197" "0" "198" "0" "c.197_198dup" "r.(?)" "p.(Pro67Tyrfs*11)" "2"
"0000485336" "00017482" "99" "467" "0" "469" "0" "c.467_469dup" "r.(?)" "p.(Asp156dup)" "4"
"0000485337" "00017482" "55" "861" "0" "862" "0" "c.861_862insN[92]" "r.spl" "p.?" ""
"0000485338" "00017482" "99" "2227" "0" "2228" "0" "c.2227_2228insN[4]" "r.(?)" "p.?" ""
"0000485339" "00017482" "55" "2393" "0" "2393" "0" "c.2393G>A" "r.(?)" "p.(Arg798Gln)" "23"
"0000485340" "00017482" "55" "137" "106" "137" "106" "c.137+106G>T" "r.(?)" "p.(=)" "1i"
"0000485341" "00017482" "99" "2193" "0" "2194" "0" "c.2193_2194del" "r.(?)" "p.(Pro732Serfs*18)" "21"
"0000485342" "00017482" "99" "155" "0" "156" "0" "c.155_156dup" "r.(?)" "p.(Glu53Glnfs*13)" "2"
"0000485343" "00017482" "99" "1196" "0" "1196" "0" "c.1196del" "r.(?)" "p.(Asn399Ilefs*2)" "12"
"0000485344" "00017482" "55" "1217" "-29" "1217" "-29" "c.1217-29A>G" "r.(?)" "p.(=)" "12i"
"0000485345" "00017482" "99" "1802" "0" "1802" "0" "c.1802del" "r.(?)" "p.(Thr601Metfs*10)" "18"
"0000485346" "00017482" "99" "2087" "0" "2091" "0" "c.2087_2091del" "r.(?)" "p.(Arg696Lysfs*23)" "20"
"0000485347" "00017482" "55" "2325" "2" "2325" "2" "c.2325+2del" "r.spl" "p.?" "22i"
"0000485348" "00017482" "99" "2449" "0" "2449" "0" "c.2449G>T" "r.(?)" "p.(Glu817*)" "23"
"0000485349" "00017482" "55" "2490" "-8" "2490" "-8" "c.2490-8C>G" "r.spl" "p.(=)" "23i"
"0000485350" "00017482" "55" "2326" "-14" "2326" "-14" "c.2326-14T>C" "r.spl" "p.(=)" "22i"
"0000485351" "00017482" "99" "2170" "0" "2191" "0" "c.2170_2191del" "r.(?)" "p.(Ile724Phefs*13)" "21"
"0000485352" "00017482" "55" "264" "1" "264" "1" "c.264+1G>C" "r.spl" "p.?" "2i"
"0000485353" "00017482" "55" "1389" "1" "1389" "1" "c.1389+1G>C" "r.spl" "p.?" "14i"
"0000485354" "00017482" "99" "1486" "0" "1499" "0" "c.1486_1499delinsN[4]" "r.(?)" "p.Ala496X" ""
"0000485355" "00017482" "55" "1814" "2" "1814" "2" "c.1814+2T>C" "r.spl" "p.?" "18i"
"0000485356" "00017482" "55" "539" "1" "539" "1" "c.539+1G>A" "r.spl" "p.?" "5i"
"0000485357" "00017482" "99" "1703" "0" "1706" "0" "c.1703_1706del" "r.(?)" "p.(Pro568Hisfs*42)" "18"
"0000485358" "00017482" "99" "2248" "0" "2248" "0" "c.2248dup" "r.(?)" "p.(Asp750Glyfs*8)" "22"
"0000485359" "00017482" "99" "2501" "0" "2501" "0" "c.2501C>T" "r.(?)" "p.(Ser834Leu)" "24"
"0000485360" "00017482" "55" "1695" "255" "1695" "256" "c.1695+255_1695+256dup" "r.(?)" "p.(=)" "17i"
"0000485361" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "24i"
"0000485362" "00017482" "55" "1958" "0" "1960" "0" "c.1958_1960del" "r.(?)" "p.(Lys653_Val654delinsMet)" "19"
"0000485363" "00017482" "99" "295" "0" "296" "0" "c.295_296del" "r.(?)" "p.(Trp99Glyfs*10)" "3"
"0000485364" "00017482" "55" "137" "0" "137" "0" "c.137G>C" "r.(?)" "p.(Arg46Thr)" "1"
"0000485365" "00017482" "55" "75" "0" "80" "0" "c.75_80del" "r.(?)" "p.(Pro28_Pro29del)" "1"
"0000485366" "00017482" "99" "1629" "0" "1630" "0" "c.1629_1630del" "r.(?)" "p.(Glu545Asnfs*9)" "17"
"0000485367" "00017482" "55" "1994" "0" "1994" "0" "c.1994T>C" "r.(?)" "p.(Leu665Pro)" "20"
"0000485368" "00017482" "55" "1422" "-1" "1422" "-1" "c.1422-1G>A" "skip exon 16" "p.?" "15i"
"0000485369" "00017482" "55" "1815" "-11" "1815" "-11" "c.1815-11A>G" "r.1814_1815ins1815-10_1815-1" "p.(=)" "18i"
"0000485370" "00017482" "99" "1390" "0" "1390" "0" "c.1390G>T" "r.(?)" "p.(Glu464*)" "15"
"0000485371" "00017482" "99" "62" "0" "62" "0" "c.62del" "r.(?)" "p.(Pro21Argfs*44)" "1"
"0000485372" "00017482" "99" "84" "0" "84" "0" "c.84dup" "r.(?)" "p.(Pro29Serfs*2)" "1"
"0000485373" "00017482" "99" "154" "0" "154" "0" "c.154del" "r.(?)" "p.(Thr52Glnfs*13)" "2"
"0000485374" "00017482" "99" "191" "0" "191" "0" "c.191T>G" "r.(?)" "p.(Leu64*)" "2"
"0000485375" "00017482" "99" "338" "0" "338" "0" "c.338dup" "r.(?)" "p.(Met113Ilefs*7)" "3"
"0000485376" "00017482" "99" "593" "0" "599" "0" "c.593_599del" "r.(?)" "p.(Phe198*)" "6"
"0000485377" "00017482" "99" "682" "0" "682" "0" "c.682A>T" "r.(?)" "p.(Lys228*)" "7"
"0000485378" "00017482" "99" "928" "0" "928" "0" "c.928G>T" "r.(?)" "p.(Gly310*)" "9"
"0000485379" "00017482" "99" "963" "0" "963" "0" "c.963C>A" "r.(?)" "p.(Tyr321*)" "10"
"0000485380" "00017482" "99" "1191" "0" "1191" "0" "c.1191del" "r.(?)" "p.(Glu398Lysfs*3)" "12"
"0000485381" "00017482" "99" "1420" "0" "1421" "30" "c.1420_1421+30del" "r.(?)" "480X" "15"
"0000485382" "00017482" "55" "1419" "0" "1421" "39" "c.1419_1421+39del" "r.1390_1421del" "p.?" "15"
"0000485383" "00017482" "99" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Gln504*)" "17"
"0000485384" "00017482" "99" "1615" "0" "1615" "0" "c.1615G>T" "r.(?)" "p.(Glu539*)" "17"
"0000485385" "00017482" "99" "1709" "0" "1710" "0" "c.1709_1710del" "r.(?)" "p.(Phe570*)" "18"
"0000485386" "00017482" "99" "1754" "0" "1763" "0" "c.1754_1763del" "r.(?)" "p.(His585Leufs*23)" "18"
"0000485387" "00017482" "99" "1974" "0" "1974" "0" "c.1974del" "r.(?)" "p.(Tyr659Ilefs*4)" "20"
"0000485388" "00017482" "99" "2164" "0" "2164" "0" "c.2164A>T" "r.(?)" "p.(Lys722*)" "21"
"0000485389" "00017482" "99" "2306" "0" "2306" "0" "c.2306T>A" "r.(?)" "p.(Leu769*)" "22"
"0000485390" "00017482" "99" "2536" "0" "2536" "0" "c.2536C>T" "r.(?)" "p.(Gln846*)" "25"
"0000485391" "00017482" "55" "609" "0" "609" "0" "c.609G>A" "r.spl" "p.(Gly203=)" "7"
"0000485392" "00017482" "99" "490" "0" "491" "0" "c.490_491insN[27]" "r.(?)" "165X" ""
"0000485393" "00017482" "99" "424" "0" "431" "0" "c.424_431del" "r.(?)" "p.(Thr142*)" "4"
"0000485394" "00017482" "55" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(Lys319Arg)" "10"
"0000485395" "00017482" "99" "1424" "0" "1425" "0" "c.1424_1425insN[10]" "r.(?)" "476X" ""
"0000485396" "00017482" "99" "1440" "0" "1441" "0" "c.1440_1441del" "r.(?)" "p.(Ile481Phefs*11)" "16"
"0000485397" "00017482" "99" "1457" "0" "1458" "0" "c.1457_1458insN[35]" "r.(?)" "491X" ""
"0000485398" "00017482" "99" "1471" "0" "1472" "0" "c.1471_1472insN[43]" "r.(?)" "498X" ""
"0000485399" "00017482" "99" "1765" "0" "1766" "0" "c.1765_1766insGG" "r.(?)" "p.(Ala589Glyfs*23)" "18"
"0000485400" "00017482" "55" "2535" "0" "2535" "0" "c.2535C>A" "r.(?)" "p.(Phe845Leu)" "25"
"0000485401" "00017482" "55" "908" "0" "908" "0" "c.908T>A" "r.(?)" "p.(Leu303His)" "9"
"0000485402" "00017482" "99" "1094" "0" "1095" "0" "c.1094_1095insN[?]" "r.(?)" "383X" "11"
"0000485403" "00017482" "99" "1235" "0" "1236" "0" "c.1235_1236delinsC" "r.(?)" "p.(Lys412Thrfs*5)" "13"
"0000485404" "00017482" "55" "1733" "0" "1733" "0" "c.1733A>C" "r.(?)" "p.(Asp578Ala)" "18"
"0000485405" "00017482" "55" "2326" "-3" "2326" "-3" "c.2326-3T>G" "r.spl?" "p.?" "22i"
"0000485406" "00017482" "55" "1049" "2" "1049" "2" "c.1049+2T>C" "r.spl" "p.?" "10i"
"0000485407" "00017482" "99" "1228" "0" "1229" "0" "c.1228_1229del" "r.(?)" "p.(Asn410Serfs*17)" "13"
"0000485408" "00017482" "55" "2212" "-13" "2212" "-13" "c.2212-13T>A" "r.spl" "p.(=)" "21i"
"0000485409" "00017482" "55" "1421" "0" "1421" "0" "c.1421G>A" "r.spl" "p.(Ser474Asn)" "15"
"0000485410" "00017482" "99" "341" "0" "341" "0" "c.341C>A" "r.(?)" "p.(Ser114*)" "3"
"0000485411" "00017482" "55" "377" "0" "377" "0" "c.377T>G" "r.(?)" "p.(Ile126Ser)" "3"
"0000485412" "00017482" "99" "838" "0" "838" "0" "c.838G>T" "r.(?)" "p.(Glu280*)" "8"
"0000485413" "00017482" "99" "624" "0" "625" "0" "c.624_625insT" "r.(?)" "p.(Glu209*)" "7"
"0000485414" "00017482" "55" "542" "0" "542" "0" "c.542T>C" "r.(?)" "p.(Ile181Thr)" "6"
"0000485415" "00017482" "99" "32" "0" "63" "0" "c.32_63del" "r.(?)" "p.(Ala11Glyfs*9)" "1"
"0000485416" "00017482" "99" "1572" "0" "1572" "0" "c.1572del" "r.(?)" "p.(Ala525Profs*7)" "17"
"0000485417" "00017482" "99" "1364" "0" "1377" "0" "c.1364_1377dup" "r.(?)" "p.(Met460Glufs*2)" "14"
"0000485418" "00017482" "99" "596" "0" "596" "0" "c.596del" "r.(?)" "p.(Leu199Tyrfs*2)" "6"
"0000485419" "00017482" "99" "690" "0" "690" "0" "c.690dup" "r.(?)" "p.(Pro231Thrfs*10)" "7"
"0000485420" "00017482" "55" "2107" "-3" "2107" "-3" "c.2107-3T>G" "r.spl?" "p.?" "20i"
"0000485421" "00017482" "99" "2390" "0" "2390" "0" "c.2390T>G" "r.(?)" "p.(Leu797*)" "23"
"0000485422" "00017482" "99" "1212" "0" "1212" "0" "c.1212del" "r.(?)" "p.(Phe404Leufs*6)" "12"
"0000485423" "00017482" "99" "610" "0" "610" "0" "c.610dup" "r.(?)" "p.(Glu204Glyfs*8)" "7"
"0000485424" "00017482" "99" "1806" "0" "1806" "0" "c.1806del" "r.(?)" "p.(Ala603Glnfs*8)" "18"
"0000485425" "00017482" "99" "952" "0" "952" "0" "c.952del" "r.(?)" "p.(Ser318Leufs*14)" "10"
"0000485426" "00017482" "55" "264" "4" "264" "4" "c.264+4del" "r.spl?" "p.?" "2i"
"0000485427" "00017482" "55" "2209" "0" "2209" "0" "c.2209del" "r.(?)" "p.(Glu737Argfs*7)" "21"
"0000485428" "00017482" "55" "2326" "-1" "2326" "-1" "c.2326-1del" "r.spl" "p.?" "22i"
"0000485429" "00017482" "55" "2520" "1" "2520" "1" "c.2520+1G>A" "r.spl" "p.?" "24i"
"0000485430" "00017482" "99" "613" "0" "613" "0" "c.613del" "r.(?)" "p.(Val205Tyrfs*9)" "7"
"0000485431" "00017482" "99" "1027" "0" "1028" "0" "c.1027_1028del" "r.(?)" "p.(Leu343Serfs*3)" "10"
"0000485432" "00017482" "99" "1536" "0" "1537" "0" "c.1536_1537del" "r.(?)" "p.(Leu512Phefs*10)" "17"
"0000485433" "00017482" "99" "1826" "0" "1826" "0" "c.1826del" "r.(?)" "p.(Pro609Leufs*2)" "19"
"0000485434" "00017482" "99" "2072" "0" "2072" "0" "c.2072del" "r.(?)" "p.(Glu691Glyfs*5)" "20"
"0000485435" "00017482" "55" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Val654Met)" "19"
"0000485436" "00017482" "55" "2211" "2" "2211" "2" "c.2211+2T>C" "r.spl" "p.?" "21i"
"0000485437" "00017482" "55" "1216" "-3" "1216" "-3" "c.1216-3A>G" "r.1215_1216insag" "p.?" "12i"
"0000485438" "00017482" "55" "219" "0" "220" "0" "c.219_220del" "r.(?)" "p.(Arg73Serfs*36)" "2"
"0000485439" "00017482" "99" "442" "0" "443" "0" "c.442_443del" "r.(?)" "p.(Met148Valfs*8)" "4"
"0000485440" "00017482" "99" "831" "0" "832" "0" "c.831_832del" "r.(?)" "p.(Cys278*)" "8"
"0000485441" "00017482" "99" "893" "0" "893" "0" "c.893del" "r.(?)" "p.(Pro298Leufs*3)" "9"
"0000485442" "00017482" "99" "1439" "0" "1439" "0" "c.1439del" "r.(?)" "p.(Asn480Thrfs*15)" "16"
"0000485443" "00017482" "99" "1557" "0" "1557" "0" "c.1557del" "r.(?)" "p.(Asn519Lysfs*5)" "17"
"0000485444" "00017482" "99" "2072" "0" "2075" "0" "c.2072_2075del" "r.(?)" "p.(Glu691Valfs*4)" "20"
"0000485445" "00017482" "55" "264" "1" "264" "1" "c.264+1G>A" "skip exon 2" "p.?" "2i"
"0000485446" "00017482" "55" "265" "-72" "265" "-72" "c.265-72A>G" "new splice acceptor" "p.(=)" "2i"
"0000485447" "00017482" "55" "1052" "0" "1052" "0" "c.1052T>G" "r.(?)" "p.(Phe351Cys)" "11"
"0000485448" "00017482" "99" "1060" "0" "1061" "0" "c.1060_1061del" "r.(?)" "p.(Gln354Glufs*7)" "11"
"0000485449" "00017482" "99" "109" "0" "116" "0" "c.109_116del" "r.(?)" "p.(Ser37Glyfs*9)" "1"
"0000485450" "00017482" "99" "1141" "0" "1141" "0" "c.1141dup" "r.(?)" "p.(Thr381Asnfs*14)" "12"
"0000485451" "00017482" "99" "1161" "0" "1161" "0" "c.1161del" "r.(?)" "p.(Met387Ilefs*3)" "12"
"0000485452" "00017482" "99" "1247" "0" "1247" "0" "c.1247dup" "r.(?)" "p.(Lys417Glufs*11)" "13"
"0000485453" "00017482" "99" "1306" "0" "1306" "0" "c.1306dup" "r.(?)" "p.(Gln436Profs*27)" "13"
"0000485454" "00017482" "55" "1335" "0" "1335" "0" "c.1335A>C" "r.(?)" "p.(=)" "14"
"0000485455" "00017482" "99" "1333" "-1" "1342" "0" "c.1333-1_1342del" "r.spl" "p.?" "13i"
"0000485456" "00017482" "99" "1374" "0" "1374" "0" "c.1374del" "r.(?)" "p.(Glu458Aspfs*20)" "14"
"0000485457" "00017482" "99" "1383" "0" "1383" "0" "c.1383del" "r.(?)" "p.(Lys462Asnfs*16)" "14"
"0000485458" "00017482" "55" "1390" "-1" "1390" "-1" "c.1390-1G>C" "r.spl" "p.?" "14i"
"0000485459" "00017482" "99" "1400" "0" "1403" "0" "c.1400_1403dup" "r.(?)" "p.(Ser469Ilefs*7)" "15"
"0000485460" "00017482" "99" "1449" "0" "1449" "0" "c.1449dup" "r.(?)" "p.(Met484Tyrfs*9)" "16"
"0000485461" "00017482" "55" "1498" "0" "1498" "0" "c.1498A>A" "r.spl" "p.?" ""
"0000485462" "00017482" "99" "1537" "0" "1537" "0" "c.1537del" "r.(?)" "p.(Ser513Leufs*6)" "17"
"0000485463" "00017482" "55" "1693" "0" "1695" "11" "c.1693_1695+11del" "r.spl" "p.?" "17"
"0000485464" "00017482" "55" "1696" "-12" "1696" "-12" "c.1696-12T>G" "r.spl" "p.(=)" "17i"
"0000485465" "00017482" "99" "1709" "0" "1710" "0" "c.1709_1710dup" "r.(?)" "p.(Asp571Leufs*41)" "18"
"0000485466" "00017482" "55" "1778" "0" "1778" "0" "c.1778dup" "r.(?)" "p.(Asn593Lysfs*7)" "18"
"0000485467" "00017482" "99" "1807" "0" "1807" "0" "c.1807del" "r.(?)" "p.(Ala603Glnfs*8)" "18"
"0000485468" "00017482" "99" "1877" "0" "1877" "0" "c.1877dup" "r.(?)" "p.(Asn627Lysfs*26)" "19"
"0000485469" "00017482" "99" "1895" "0" "1895" "0" "c.1895del" "r.(?)" "p.(Ala632Glufs*11)" "19"
"0000485470" "00017482" "99" "18" "0" "36" "0" "c.18_36del" "r.(?)" "p.(Arg7Profs*52)" "1"
"0000485471" "00017482" "99" "1965" "0" "1965" "0" "c.1965T>A" "r.(?)" "p.(Tyr655*)" "20"
"0000485472" "00017482" "55" "198" "0" "198" "0" "c.198dup" "r.(?)" "p.(Pro67Thrfs*43)" "2"
"0000485473" "00017482" "55" "19" "0" "21" "0" "c.19_21delinsGG" "r.(?)" "p.(Arg7Glyfs*58)" "1"
"0000485474" "00017482" "99" "2062" "0" "2062" "0" "c.2062del" "r.(?)" "p.(Leu688Cysfs*8)" "20"
"0000485475" "00017482" "99" "2095" "0" "2098" "0" "c.2095_2098del" "r.(?)" "p.(His699Trpfs*5)" "20"
"0000485476" "00017482" "99" "2096" "0" "2096" "0" "c.2096dup" "r.(?)" "p.(His699Glnfs*22)" "20"
"0000485477" "00017482" "55" "2108" "0" "2108" "0" "c.2108T>C" "r.(?)" "p.(Ile703Thr)" "21"
"0000485478" "00017482" "99" "2118" "0" "2130" "0" "c.2118_2130del" "r.(?)" "p.(Cys706*)" "21"
"0000485479" "00017482" "99" "216" "0" "220" "0" "c.216_220del" "r.(?)" "p.(Glu72Aspfs*36)" "2"
"0000485480" "00017482" "99" "2194" "0" "2197" "0" "c.2194_2197del" "r.(?)" "p.(Pro732Metfs*11)" "21"
"0000485481" "00017482" "55" "220" "0" "221" "0" "c.220_221insT" "r.(?)" "p.(Ala74ValfsTer36)" "22"
"0000485482" "00017482" "55" "2214" "0" "2214" "0" "c.2214dup" "r.(?)" "p.(Phe739Ilefs*12)" "22"
"0000485483" "00017482" "55" "2264" "0" "2265" "0" "c.2264_2265insN[11]" "r.(?)" "p.?" ""
"0000485484" "00017482" "99" "27" "0" "58" "0" "c.27_58del" "r.(?)" "p.(Ala10Profs*10)" "1"
"0000485485" "00017482" "99" "2552" "0" "2552" "0" "c.2552del" "r.(?)" "p.(Met851Argfs*22)" "25"
"0000485486" "00017482" "55" "2582" "0" "2583" "0" "c.2582_2583insT" "r.(?)" "p.(Arg861Serfs*4)" "25"
"0000485487" "00017482" "99" "2584" "0" "2584" "0" "c.2584del" "r.(?)" "p.(Ser862Valfs*11)" "25"
"0000485488" "00017482" "55" "45" "0" "46" "0" "c.45_46insN[23]" "r.(?)" "p.?" ""
"0000485489" "00017482" "99" "477" "0" "477" "0" "c.477del" "r.(?)" "p.(Phe159Leufs*16)" "4"
"0000485490" "00017482" "99" "607" "0" "610" "0" "c.607_610del" "r.(?)" "p.(Gly203LysfsTer10)" ""
"0000485491" "00017482" "55" "608" "-1" "608" "-1" "c.608-1G>A" "r.spl" "p.?" "6i"
"0000485492" "00017482" "99" "646" "0" "650" "0" "c.646_650del" "r.(?)" "p.(Phe216Valfs*7)" "7"
"0000485493" "00017482" "99" "688" "0" "689" "0" "c.688_689del" "r.(?)" "p.(Ser230Thrfs*10)" "7"
"0000485494" "00017482" "55" "804" "0" "805" "0" "c.804_805insN[8]" "r.(?)" "p.?" ""
"0000485495" "00017482" "99" "806" "0" "831" "0" "c.806_831del" "r.(?)" "p.(Asn269Metfs*2)" "8"
"0000485496" "00017482" "55" "863" "0" "863" "0" "c.863T>C" "r.(?)" "p.(Val288Ala)" "9"
"0000485497" "00017482" "99" "929" "0" "929" "0" "c.929del" "r.(?)" "p.(Gly310Aspfs*22)" "9"
"0000485498" "00017482" "99" "1117" "0" "1120" "0" "c.1117_1120del" "r.(?)" "p.(Thr373Glnfs*6)" "11"
"0000485499" "00017482" "99" "596" "0" "596" "0" "c.596dup" "r.(?)" "p.(Leu199Phefs*4)" "6"
"0000485500" "00017482" "55" "1724" "0" "1725" "0" "c.1724_1725insN[17]" "r.(?)" "p.?" ""
"0000485501" "00017482" "55" "2051" "0" "2051" "0" "c.2051dup" "r.(?)" "p.(Gln685Profs*7)" "20"
"0000485502" "00017482" "99" "837" "0" "851" "0" "c.837_851del" "r.(?)" "p.(Lys279_Cys283del)" "8"
"0000485503" "00017482" "55" "2207" "0" "2208" "0" "c.2207_2208insN[4]" "r.(?)" "-" ""
"0000485504" "00017482" "55" "778" "0" "779" "0" "c.778_779dup" "r.(?)" "p.(Ser260Argfs*5)" "8"
"0000485505" "00017482" "55" "2154" "0" "2155" "0" "c.2154_2155insN[5]" "r.(?)" "p.?" ""
"0000485506" "00017482" "55" "1887" "0" "1888" "0" "c.1887_1888dup" "r.(?)" "p.(Thr630Argfs*14)" "19"
"0000485507" "00017482" "55" "403" "0" "404" "0" "c.403_404insA" "r.(?)" "p.(Leu135Hisfs*5)" "4"
"0000485508" "00017482" "55" "1736" "0" "1736" "0" "c.1736delinsTCT" "r.(?)" "p.(Arg579Leufs*2)" "18"
"0000485509" "00017482" "55" "1899" "0" "1899" "0" "c.1899C>T" "r.(?)" "p.(=)" "19"
"0000485510" "00017482" "55" "2109" "0" "2109" "0" "c.2109t>T" "r.(?)" "p.?" ""
"0000485511" "00017482" "99" "1499" "0" "1499" "0" "c.1499del" "r.(?)" "p.(Arg500Lysfs*19)" "17"
"0000485512" "00017482" "55" "643" "0" "643" "0" "c.643dup" "r.(?)" "p.(Ser215Phefs*10)" "7"
"0000485513" "00017482" "99" "2480" "0" "2486" "0" "c.2480_2486del" "r.(?)" "p.(Pro827Glnfs*4)" "23"
"0000485514" "00017482" "99" "1972" "0" "1972" "0" "c.1972del" "r.(?)" "p.(Ala658Profs*5)" "20"
"0000485515" "00017482" "55" "1992" "0" "1993" "0" "c.1992_1993insN[7]" "r.(?)" "p.?" ""
"0000485516" "00017482" "55" "719" "-12" "861" "41" "c.719-12_861+41del" "r.(?)" "p.(Lys240Serfs*22)" "7i"
"0000485517" "00017482" "55" "1695" "5" "1695" "5" "c.1695+5G>A" "r.spl?" "p.?" "17i"
"0000485518" "00017482" "55" "2107" "-16" "2107" "-16" "c.2107-16T>G" "r.spl" "p.(=)" "20i"
"0000485519" "00017482" "55" "2325" "5" "2325" "5" "c.2325+5G>T" "r.spl?" "p.?" "22i"
"0000485520" "00017482" "55" "380" "3" "380" "3" "c.380+3A>T" "r.spl?" "p.?" "3i"
"0000485521" "00017482" "55" "1215" "2" "1215" "2" "c.1215+2dup" "r.spl" "p.?" "12i"
"0000485522" "00017482" "55" "1421" "1" "1421" "1" "c.1421+1G>C" "r.spl" "p.?" "15i"
"0000485523" "00017482" "55" "1217" "-1" "1217" "-1" "c.1217-1G>T" "r.spl" "p.?" "12i"
"0000485524" "00017482" "55" "1390" "-14" "1390" "-14" "c.1390-14A>G" "r.spl" "p.(=)" "14i"
"0000485525" "00017482" "55" "1390" "-3" "1390" "-3" "c.1390-3del" "r.spl?" "p.?" "14i"
"0000485526" "00017482" "55" "1498" "2" "1498" "2" "c.1498+2T>C" "r.spl" "p.?" "16i"
"0000485527" "00017482" "55" "1498" "3" "1498" "3" "c.1498+3A>C" "r.spl?" "p.?" "16i"
"0000485528" "00017482" "55" "137" "2" "137" "2" "c.137+2T>A" "r.spl" "p.?" "1i"
"0000485529" "00017482" "55" "2326" "-1" "2326" "-1" "c.2326-1G>A" "r.spl" "p.?" "22i"
"0000485530" "00017482" "55" "2490" "-1398" "2490" "-1398" "c.2490-1398A>G" "r.2489_2490ins2490-1501_2490-1399" "p.(=)" "23i"
"0000485531" "00017482" "55" "-212" "0" "-212" "0" "c.-212G>A" "r.(=)" "p.(=)" "_1"
"0000485532" "00017482" "55" "-206" "0" "-189" "0" "c.-206_-189del" "r.(=)" "p.(=)" "_1"
"0000485533" "00017482" "55" "-197" "0" "-197" "0" "c.-197G>A" "r.(=)" "p.(=)" "_1"
"0000485534" "00017482" "55" "608" "-3418" "608" "-3418" "c.608-3418A>G" "r.607_608ins608-3492_608-3419" "p.(=)" "6i"
"0000485535" "00017482" "55" "1500" "0" "1500" "0" "c.1500A>C" "r.(?)" "p.(Arg500Ser)" "17"
"0000485536" "00017482" "55" "180" "0" "180" "0" "c.180dup" "r.(?)" "p.(Cys61Metfs*49)" "2"
"0000485537" "00017482" "99" "2478" "0" "2479" "0" "c.2478_2479del" "r.(?)" "p.(Pro827Lysfs*10)" "23"
"0000485538" "00017482" "99" "1579" "0" "1579" "0" "c.1579del" "r.(?)" "p.(Asp527Ilefs*5)" "17"
"0000485539" "00017482" "99" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689*)" "20"
"0000485540" "00017482" "55" "608" "-12" "608" "-12" "c.608-12T>G" "r.spl" "p.(=)" "6i"
"0000485541" "00017482" "55" "2401" "0" "2401" "0" "c.2401G>T" "r.(?)" "p.(Gly801*)" "23"
"0000485542" "00017482" "55" "2211" "0" "2211" "0" "c.2211G>C" "r.2107_2211del" "p.(Glu737Asp)" "21"
"0000485543" "00017482" "55" "2263" "0" "2263" "0" "c.2263T>G" "r.(?)" "p.(Phe755Val)" "22"
"0000485544" "00017482" "99" "2027" "0" "2027" "0" "c.2027T>G" "r.(?)" "p.(Leu676*)" "20"
"0000485545" "00017482" "55" "1371" "0" "1371" "0" "c.1371G>A" "r.(?)" "p.(Met457Ile)" "14"
"0000485546" "00017482" "55" "-342" "0" "-342" "0" "c.-342C>T" "r.(=)" "p.(=)" "_1"
"0000485547" "00017482" "99" "1929" "0" "1934" "0" "c.1929_1934delinsN[22]" "r.(?)" "p.?" ""
"0000485548" "00017482" "99" "1142" "0" "1154" "0" "c.1142_1154del" "r.(?)" "p.(Thr381Lysfs*2)" "12"
"0000485549" "00017482" "33" "45" "0" "53" "0" "c.45_53del" "r.(?)" "p.(Ala16_Ala18del)" "1"
"0000485550" "00017482" "99" "1587" "0" "1587" "0" "c.1587C>A" "r.(?)" "p.(Tyr529*)" "17"
"0000485551" "00017482" "99" "2384" "0" "2384" "0" "c.2384C>G" "r.(?)" "p.(Ser795*)" "23"
"0000485552" "00017482" "55" "2663" "1" "2663" "1" "c.2663+1G>A" "r.spl" "p.?" "25i"
"0000485553" "00017482" "99" "390" "0" "390" "0" "c.390del" "r.(?)" "p.(Lys130Asnfs*6)" "4"
"0000485554" "00017482" "55" "2536" "0" "2536" "0" "c.2536dup" "r.(?)" "p.(Gln846Profs*9)" "25"
"0000485555" "00017482" "99" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Trp195*)" "6"
"0000485556" "00017482" "99" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Trp681*)" "20"
"0000485557" "00017482" "55" "2439" "0" "2439" "0" "c.2439T>G" "r.(?)" "p.(Tyr813*)" "23"
"0000485558" "00017482" "55" "138" "-1" "138" "-1" "c.138-1G>A" "r.spl" "p.?" "1i"
"0000485559" "00017482" "55" "861" "2" "861" "2" "c.861+2T>C" "r.spl" "p.?" "8i"
"0000485560" "00017482" "99" "1691" "0" "1695" "28" "c.1691_1695+28del" "r.spl" "p.?" "17"
"0000485561" "00017482" "99" "575" "0" "583" "0" "c.575_583del" "r.(?)" "p.(Lys192_Trp195delinsArg)" "6"
"0000485562" "00017482" "99" "604" "0" "604" "0" "c.604A>T" "r.(?)" "p.(Lys202*)" "6"
"0000485563" "00017482" "99" "1372" "0" "1372" "0" "c.1372G>T" "r.(?)" "p.(Glu458*)" "14"
"0000485564" "00017482" "55" "2123" "0" "2123" "0" "c.2123T>A" "r.(?)" "p.(Met708Lys)" "21"
"0000485565" "00017482" "99" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Gln471*)" "15"
"0000485566" "00017482" "99" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Glu72*)" "2"
"0000485567" "00017482" "55" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Pro232Ser)" "7"
"0000485568" "00017482" "99" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Gln257*)" "8"
"0000485569" "00017482" "99" "2228" "0" "2228" "0" "c.2228T>A" "r.(?)" "p.(Leu743*)" "22"
"0000485570" "00017482" "99" "811" "0" "811" "0" "c.811dup" "r.(?)" "p.(Thr271Asnfs*5)" "8"
"0000485571" "00017482" "99" "591" "0" "591" "0" "c.591dup" "r.(?)" "p.(Phe198Ilefs*5)" "6"
"0000485572" "00017482" "99" "793" "0" "811" "0" "c.793_811del" "r.(?)" "p.(Lys265Glnfs*15)" "8"
"0000485573" "00017482" "99" "2228" "0" "2228" "0" "c.2228del" "r.(?)" "p.(Leu743*)" "22"
"0000485574" "00017482" "99" "902" "0" "902" "0" "c.902dup" "r.(?)" "p.(Asn301Lysfs*9)" "9"
"0000485575" "00017482" "55" "137" "106" "137" "106" "c.137+106G>A" "r.(?)" "p.(=)" "1i"
"0000485576" "00017482" "55" "380" "45" "380" "45" "c.380+45C>T" "r.(?)" "p.(=)" "3i"
"0000485577" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "17i"
"0000485578" "00017482" "55" "2521" "-1772" "2521" "-1772" "c.2521-1772C>G" "r.(?)" "p.(=)" "24i"
"0000485579" "00017482" "55" "-1863" "0" "-1862" "0" "c.-1863_-1862insGATACT" "r.spl" "p.?" "_1"
"0000485580" "00017482" "55" "-1861" "0" "-1861" "0" "c.-1861del" "r.(=)" "p.(=)" "_1"
"0000485581" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "_1"
"0000485582" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "_1"
"0000485583" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "_1"
"0000485584" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "_1"
"0000485585" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "_1"
"0000485586" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "_1"
"0000485587" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "_1"
"0000485588" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "_1"
"0000485589" "00017482" "55" "-459" "0" "-459" "0" "c.-459C>T" "r.(=)" "p.(=)" "_1"
"0000485590" "00017482" "55" "138" "-124" "138" "-124" "c.138-124C>T" "r.(?)" "p.(=)" "1i"
"0000485591" "00017482" "55" "138" "-35" "138" "-30" "c.138-35_138-30del" "r.(?)" "p.(=)" "1i"
"0000485592" "00017482" "11" "264" "75" "264" "75" "c.264+75T>C" "r.(?)" "p.(=)" "2i"
"0000485593" "00017482" "55" "380" "10" "380" "10" "c.380+10C>G" "r.(?)" "p.(=)" "3i"
"0000485594" "00017482" "55" "380" "12" "380" "12" "c.380+12T>C" "r.(?)" "p.(=)" "3i"
"0000485595" "00017482" "55" "380" "18" "380" "19" "c.380+18_380+19del" "r.(?)" "p.(=)" "3i"
"0000485596" "00017482" "55" "380" "37" "380" "37" "c.380+37A>G" "r.(?)" "p.(=)" "3i"
"0000485597" "00017482" "55" "381" "-152" "381" "-152" "c.381-152A>G" "r.(?)" "p.(=)" "3i"
"0000485598" "00017482" "55" "397" "0" "397" "0" "c.397A>C" "r.(?)" "p.(Asn133His)" "4"
"0000485599" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "4i"
"0000485600" "00017482" "55" "500" "46" "500" "46" "c.500+46A>G" "r.(?)" "p.(=)" "4i"
"0000485601" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "4i"
"0000485602" "00017482" "55" "501" "-38" "501" "-38" "c.501-38G>A" "r.(?)" "p.(=)" "4i"
"0000485603" "00017482" "55" "501" "-22" "501" "-22" "c.501-22G>T" "r.(?)" "p.(=)" "4i"
"0000485604" "00017482" "55" "540" "-23" "540" "-23" "c.540-23dup" "r.(?)" "p.(=)" "5i"
"0000485605" "00017482" "55" "607" "199" "607" "199" "c.607+199T>A" "r.(?)" "p.(=)" "6i"
"0000485606" "00017482" "55" "608" "-24" "608" "-24" "c.608-24T>A" "r.(?)" "p.(=)" "6i"
"0000485607" "00017482" "55" "608" "-31" "608" "-31" "c.608-31C>T" "r.(?)" "p.(=)" "6i"
"0000485608" "00017482" "55" "718" "26" "718" "26" "c.718+26T>C" "r.(?)" "p.(=)" "7i"
"0000485609" "00017482" "55" "718" "35" "718" "35" "c.718+35A>T" "r.(?)" "p.(=)" "7i"
"0000485610" "00017482" "55" "718" "138" "718" "138" "c.718+138G>A" "r.(?)" "p.(=)" "7i"
"0000485611" "00017482" "55" "719" "-178" "719" "-178" "c.719-178T>C" "r.(?)" "p.(=)" "7i"
"0000485612" "00017482" "55" "862" "-60" "862" "-60" "c.862-60T>G" "r.(?)" "p.(=)" "8i"
"0000485613" "00017482" "55" "862" "-27" "862" "-27" "c.862-27A>C" "r.(?)" "p.(=)" "8i"
"0000485614" "00017482" "55" "939" "87" "939" "87" "c.939+87T>C" "r.(?)" "p.(=)" "9i"
"0000485615" "00017482" "55" "1049" "58" "1049" "58" "c.1049+58G>A" "r.(?)" "p.(=)" "10i"
"0000485616" "00017482" "55" "1049" "58" "1049" "58" "c.1049+58G>C" "r.(?)" "p.(=)" "10i"
"0000485617" "00017482" "55" "1050" "-57" "1050" "-57" "c.1050-57A>C" "r.(?)" "p.(=)" "10i"
"0000485618" "00017482" "55" "1127" "41" "1127" "41" "c.1127+41A>C" "r.(?)" "p.(=)" "11i"
"0000485619" "00017482" "55" "1127" "74" "1127" "74" "c.1127+74C>T" "r.(?)" "p.(=)" "11i"
"0000485620" "00017482" "55" "1127" "100" "1127" "100" "c.1127+100T>C" "r.(?)" "p.(=)" "11i"
"0000485621" "00017482" "55" "1127" "173" "1127" "173" "c.1127+173G>A" "r.(?)" "p.(=)" "11i"
"0000485622" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "11i"
"0000485623" "00017482" "55" "1215" "29" "1215" "29" "c.1215+29G>A" "r.(?)" "p.(=)" "12i"
"0000485624" "00017482" "55" "1332" "68" "1332" "68" "c.1332+68T>A" "r.(?)" "p.(=)" "13i"
"0000485625" "00017482" "55" "1389" "194" "1389" "194" "c.1389+194del" "r.(?)" "p.(=)" "14i"
"0000485626" "00017482" "55" "1390" "-172" "1390" "-172" "c.1390-172A>T" "r.(?)" "p.(=)" "14i"
"0000485627" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "14i"
"0000485628" "00017482" "55" "1389" "286" "1389" "286" "c.1389+286G>A" "r.(?)" "p.(=)" "14i"
"0000485629" "00017482" "55" "1390" "-25" "1390" "-25" "c.1390-25T>G" "r.(?)" "p.(=)" "14i"
"0000485630" "00017482" "55" "1390" "-17" "1390" "-17" "c.1390-17del" "r.(?)" "p.(=)" "14i"
"0000485631" "00017482" "55" "1707" "0" "1707" "0" "c.1707A>G" "r.(?)" "p.(=)" "18"
"0000485632" "00017482" "55" "1796" "0" "1796" "0" "c.1796A>G" "r.(?)" "p.(Asn599Ser)" "18"
"0000485633" "00017482" "55" "1815" "-113" "1815" "-113" "c.1815-113A>G" "r.(?)" "p.(=)" "18i"
"0000485634" "00017482" "55" "1815" "-104" "1815" "-104" "c.1815-104A>G" "r.(?)" "p.(=)" "18i"
"0000485635" "00017482" "55" "1860" "0" "1860" "0" "c.1860G>A" "r.(?)" "p.(=)" "19"
"0000485636" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "19i"
"0000485637" "00017482" "55" "1981" "0" "1981" "0" "c.1981C>A" "r.(?)" "p.(=)" "20"
"0000485638" "00017482" "55" "2091" "0" "2091" "0" "c.2091C>G" "r.(?)" "p.(Asp697Glu)" "20"
"0000485639" "00017482" "55" "2212" "-11" "2212" "-11" "c.2212-11T>A" "r.(?)" "p.(=)" "21i"
"0000485640" "00017482" "55" "2237" "0" "2237" "0" "c.2237A>G" "r.(?)" "p.(Glu746Gly)" "22"
"0000485641" "00017482" "55" "2490" "-45" "2490" "-45" "c.2490-45A>G" "r.(?)" "p.(=)" "23i"
"0000485642" "00017482" "55" "2521" "-11" "2521" "-11" "c.2521-11G>A" "r.(?)" "p.(=)" "24i"
"0000485643" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "25i"
"0000485644" "00017482" "55" "1695" "82" "1695" "82" "c.1695+82?" "r.(?)" "p.(=)" "17i"
"0000485645" "00017482" "55" "608" "-27" "608" "-27" "c.608-27C>T" "r.(?)" "p.(=)" "6i"
"0000485646" "00017482" "55" "1696" "-67" "1696" "-67" "c.1696-67A>G" "r.(?)" "p.(=)" "17i"
"0000485647" "00017482" "55" "2326" "-45" "2326" "-45" "c.2326-45A>C" "r.(?)" "p.(=)" "22i"
"0000485648" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "17i"
"0000485649" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "17i"
"0000485650" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "11i"
"0000485651" "00017482" "55" "940" "-35" "940" "-35" "c.940-35T>C" "r.(?)" "p.(=)" "9i"
"0000485652" "00017482" "55" "1696" "-82" "1696" "-82" "c.1696-82A>G" "r.(?)" "p.(=)" "17i"
"0000485653" "00017482" "55" "1814" "72" "1814" "72" "c.1814+72T>G" "r.(?)" "p.(=)" "18i"
"0000485654" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "17i"
"0000485655" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "17i"
"0000485656" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "2i"
"0000485657" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "2i"
"0000485658" "00017482" "55" "1215" "940" "1215" "940" "c.1215+940G>A" "r.(?)" "p.(=)" "12i"
"0000485659" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "17i"
"0000485660" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "24i"
"0000485661" "00017482" "55" "2520" "1393" "2520" "1393" "c.2520+1393T>C" "r.(?)" "p.(=)" "24i"
"0000485662" "00017482" "55" "2490" "-43" "2490" "-43" "c.2490-43A>G" "r.(?)" "p.(=)" "23i"
"0000485663" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "17i"
"0000485664" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "1i"
"0000485665" "00017482" "55" "381" "-187" "381" "-187" "c.381-187A>G" "r.(?)" "p.(=)" "3i"
"0000485666" "00017482" "55" "381" "-58" "381" "-58" "c.381-58G>A" "r.(?)" "p.(=)" "3i"
"0000485667" "00017482" "55" "500" "171" "500" "171" "c.500+171A>G" "r.(?)" "p.(=)" "4i"
"0000485668" "00017482" "55" "500" "199" "500" "199" "c.500+199A>T" "r.(?)" "p.(=)" "4i"
"0000485669" "00017482" "55" "540" "-81" "540" "-81" "c.540-81C>T" "r.(?)" "p.(=)" "5i"
"0000485670" "00017482" "55" "861" "167" "861" "167" "c.861+167A>G" "r.(?)" "p.(=)" "8i"
"0000485671" "00017482" "55" "940" "-111" "940" "-111" "c.940-111C>T" "r.(?)" "p.(=)" "9i"
"0000485672" "00017482" "55" "1215" "107" "1215" "107" "c.1215+107A>G" "r.(?)" "p.(=)" "12i"
"0000485673" "00017482" "55" "1216" "-158" "1216" "-158" "c.1216-158T>C" "r.(?)" "p.(=)" "12i"
"0000485674" "00017482" "55" "1333" "-61" "1333" "-61" "c.1333-61dup" "r.(?)" "p.(=)" "13i"
"0000485675" "00017482" "55" "1390" "-168" "1390" "-168" "c.1390-168G>C" "r.(?)" "p.(=)" "14i"
"0000485676" "00017482" "55" "1390" "-97" "1390" "-97" "c.1390-97C>T" "r.(?)" "p.(=)" "14i"
"0000485677" "00017482" "55" "1499" "-182" "1499" "-182" "c.1499-182T>A" "r.(?)" "p.(=)" "16i"
"0000485678" "00017482" "55" "1499" "-117" "1499" "-117" "c.1499-117T>C" "r.(?)" "p.(=)" "16i"
"0000485679" "00017482" "55" "1499" "-57" "1499" "-57" "c.1499-57del" "r.(?)" "p.(=)" "16i"
"0000485680" "00017482" "55" "1695" "81" "1695" "82" "c.1695+81_1695+82insAA" "r.(?)" "p.(=)" "17i"
"0000485681" "00017482" "55" "1695" "97" "1695" "97" "c.1695+97T>A" "r.(?)" "p.(=)" "17i"
"0000485682" "00017482" "55" "1961" "-156" "1961" "-156" "c.1961-156T>C" "r.(?)" "p.(=)" "19i"
"0000485683" "00017482" "55" "2106" "116" "2106" "119" "c.2106+116_2106+119dup" "r.(?)" "p.(=)" "20i"
"0000485684" "00017482" "55" "2106" "55" "2106" "55" "c.2106+55dup" "r.(?)" "p.(=)" "20i"
"0000485685" "00017482" "55" "2106" "119" "2106" "120" "c.2106+119_2106+120insCTT" "r.(?)" "p.(=)" "20i"
"0000485686" "00017482" "55" "2106" "129" "2106" "129" "c.2106+129dup" "r.(?)" "p.(=)" "20i"
"0000485687" "00017482" "55" "2106" "136" "2106" "136" "c.2106+136C>T" "r.(?)" "p.(=)" "20i"
"0000485688" "00017482" "55" "2106" "146" "2106" "147" "c.2106+146_2106+147insCTTTTT" "r.(?)" "p.(=)" "20i"
"0000485689" "00017482" "55" "2106" "185" "2106" "185" "c.2106+185A>G" "r.(?)" "p.(=)" "20i"
"0000485690" "00017482" "55" "2212" "-16" "2212" "-16" "c.2212-16del" "r.(?)" "p.(=)" "21i"
"0000485691" "00017482" "55" "2212" "-16" "2212" "-16" "c.2212-16dup" "r.(?)" "p.(=)" "21i"
"0000485692" "00017482" "55" "2490" "-94" "2490" "-94" "c.2490-94T>A" "r.(?)" "p.(=)" "23i"
"0000485693" "00017482" "55" "2490" "-79" "2490" "-79" "c.2490-79A>G" "r.(?)" "p.(=)" "23i"
"0000485694" "00017482" "55" "2521" "-139" "2521" "-139" "c.2521-139T>C" "r.(?)" "p.(=)" "24i"
"0000485695" "00017482" "55" "2521" "-12" "2521" "-12" "c.2521-12T>A" "r.(?)" "p.(=)" "24i"
"0000485696" "00017482" "55" "2664" "-182" "2664" "-182" "c.2664-182A>G" "r.(?)" "p.(=)" "25i"
"0000485697" "00017482" "55" "2664" "-68" "2664" "-68" "c.2664-68G>A" "r.(?)" "p.(=)" "25i"
"0000485698" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "26i"
"0000485699" "00017482" "55" "1215" "2" "1215" "2" "c.1215+2T>C" "r.spl" "p.?" "12i"
"0000485700" "00017482" "99" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Glu119*)" "3"
"0000485701" "00017482" "99" "373" "0" "373" "0" "c.373G>T" "r.(?)" "p.(Glu125*)" "3"
"0000485702" "00017482" "55" "2520" "2" "2520" "2" "c.2520+2T>G" "r.2490_2520del" "p.?" ""
"0000485703" "00017482" "99" "187" "0" "205" "0" "c.187_205delinsN[9]" "r.(?)" "63X" ""
"0000485704" "00017482" "99" "542" "0" "542" "0" "c.542del" "r.(?)" "p.(Ile181Asnfs*5)" "6"
"0000485705" "00017482" "99" "118" "0" "118" "0" "c.118G>T" "r.(?)" "p.(Glu40*)" "1"
"0000485706" "00017482" "99" "1734" "0" "1735" "0" "c.1734_1735dup" "r.(?)" "p.(Arg579Profs*33)" "18"
"0000485707" "00017482" "55" "1318" "0" "1318" "0" "c.1318G>T" "r.(?)" "p.(Glu440*)" "13"
"0000485708" "00017482" "55" "2520" "5" "2520" "5" "c.2520+5G>C" "r.spl?" "p.?" "24i"
"0000485709" "00017482" "55" "1499" "-1" "1499" "-1" "c.1499-1G>A" "r.spl" "p.?" "16i"
"0000485710" "00017482" "55" "1695" "2" "1695" "2" "c.1695+2T>A" "r.spl" "p.?" "17i"
"0000485711" "00017482" "99" "211" "0" "211" "0" "c.211A>T" "r.(?)" "p.(Arg71*)" "2"
"0000485712" "00017482" "55" "264" "5" "264" "5" "c.264+5G>A" "skip exon 2" "p.?" "2i"
"0000485713" "00017482" "55" "1815" "-1" "1815" "-1" "c.1815-1G>A" "r.spl" "p.?" "18i"
"0000485714" "00017482" "99" "1288" "0" "1289" "0" "c.1288_1289insA" "r.(?)" "p.(Phe430Tyrfs*3)" "13"
"0000485715" "00017482" "99" "1216" "-2" "1217" "0" "c.1216-2_1217dup" "r.spl" "p.?" "13"
"0000485716" "00017482" "55" "2490" "-3" "2490" "-3" "c.2490-3C>A" "r.spl?" "p.?" "23i"
"0000485717" "00017482" "99" "1267" "0" "1267" "0" "c.1267G>T" "r.(?)" "p.(Gly423*)" "13"
"0000485718" "00017482" "55" "861" "828" "861" "828" "c.861+828T>G" "r.861_862ins[861+736_861+827;g]" "p.(=)" "8i"
"0000485719" "00017482" "55" "2490" "-6" "2490" "-6" "c.2490-6T>A" "r.2489_2490insacag" "p.(=)" "23i"
"0000485720" "00017482" "99" "1736" "0" "1742" "0" "c.1736_1742del" "r.(?)" "p.(Arg579Hisfs*30)" "18"
"0000485721" "00017482" "55" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Gly449Arg)" "14"
"0000485722" "00017482" "99" "1605" "0" "1605" "0" "c.1605del" "r.(?)" "p.(Phe535Leufs*8)" "17"
"0000485723" "00017482" "99" "283" "0" "283" "0" "c.283A>T" "r.(?)" "p.(Lys95*)" "3"
"0000485724" "00017482" "99" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Gln207*)" "7"
"0000485725" "00017482" "99" "689" "0" "689" "0" "c.689C>A" "r.(?)" "p.(Ser230*)" "7"
"0000485726" "00017482" "55" "1129" "0" "1129" "0" "c.1129A>T" "r.(?)" "p.(Thr377Ser)" "12"
"0000485727" "00017482" "55" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Ala433Val)" "13"
"0000485728" "00017482" "55" "1449" "0" "1449" "0" "c.1449T>G" "r.(?)" "p.(His483Gln)" "16"
"0000485729" "00017482" "99" "1818" "0" "1818" "0" "c.1818T>G" "r.(?)" "p.(Tyr606*)" "19"
"0000485730" "00017482" "55" "2069" "0" "2069" "0" "c.2069A>G" "r.(?)" "p.(Asn690Ser)" "20"
"0000485731" "00017482" "99" "2284" "0" "2284" "0" "c.2284C>T" "r.(?)" "p.(Gln762*)" "22"
"0000485732" "00017482" "55" "1262" "0" "1264" "0" "c.1262_1264delinsTG" "r.(?)" "p.(Asp421Valfs*2)" "13"
"0000485733" "00017482" "55" "98" "0" "98" "0" "c.98dup" "r.(?)" "p.(Glu34Argfs*15)" "1"
"0000485734" "00017482" "99" "120" "0" "124" "0" "c.120_124dup" "r.(?)" "p.(Leu42Argfs*25)" "1"
"0000485735" "00017482" "99" "207" "0" "207" "0" "c.207dup" "r.(?)" "p.(Val70Cysfs*40)" "2"
"0000485736" "00017482" "99" "396" "0" "396" "0" "c.396dup" "r.(?)" "p.(Asn133*)" "4"
"0000485737" "00017482" "99" "798" "0" "799" "0" "c.798_799dup" "r.(?)" "p.(Leu267Hisfs*2)" "8"
"0000485738" "00017482" "99" "1252" "0" "1252" "0" "c.1252dup" "r.(?)" "p.(Arg418Lysfs*10)" "13"
"0000485739" "00017482" "99" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Cys666Leufs*2)" "20"
"0000485740" "00017482" "99" "19" "0" "19" "0" "c.19del" "r.(?)" "p.(Arg7Glufs*58)" "1"
"0000485741" "00017482" "99" "55" "0" "55" "0" "c.55del" "r.(?)" "p.(Glu19Asnfs*46)" "1"
"0000485742" "00017482" "55" "83" "0" "83" "0" "c.83del" "r.(?)" "p.(Pro28Leufs*37)" "1"
"0000485743" "00017482" "55" "241" "0" "241" "0" "c.241del" "r.(?)" "p.(Val81Phefs*30)" "2"
"0000485744" "00017482" "55" "392" "0" "392" "0" "c.392del" "r.(?)" "p.(Phe131Serfs*5)" "4"
"0000485745" "00017482" "55" "421" "0" "421" "0" "c.421del" "r.(?)" "p.(Ser141Valfs*12)" "4"
"0000485746" "00017482" "55" "438" "0" "438" "0" "c.438del" "r.(?)" "p.(Asn146Lysfs*7)" "4"
"0000485747" "00017482" "55" "456" "0" "456" "0" "c.456del" "r.(?)" "p.(Lys153Argfs*22)" "4"
"0000485748" "00017482" "55" "532" "0" "539" "0" "c.532_539del" "r.(?)" "p.(Ser178Aspfs*4)" "5"
"0000485749" "00017482" "55" "822" "0" "822" "0" "c.822del" "r.(?)" "p.(Ile274Metfs*12)" "8"
"0000485750" "00017482" "99" "931" "0" "931" "0" "c.931del" "r.(?)" "p.(Leu311Phefs*21)" "9"
"0000485751" "00017482" "55" "1012" "0" "1012" "0" "c.1012del" "r.(?)" "p.(Asp338Ilefs*11)" "10"
"0000485752" "00017482" "55" "1049" "1" "1049" "1" "c.1049+1del" "r.spl" "p.?" "10i"
"0000485753" "00017482" "55" "1078" "0" "1078" "0" "c.1078del" "r.(?)" "p.(Ser360Valfs*7)" "11"
"0000485754" "00017482" "55" "1251" "0" "1252" "0" "c.1251_1252del" "r.(?)" "p.(Arg418Serfs*9)" "13"
"0000485755" "00017482" "99" "1321" "0" "1321" "0" "c.1321del" "r.(?)" "p.(Ile441Leufs*16)" "13"
"0000485756" "00017482" "99" "1468" "0" "1469" "0" "c.1468_1469del" "r.(?)" "p.(Ala490Serfs*2)" "16"
"0000485757" "00017482" "99" "1534" "0" "1535" "0" "c.1534_1535del" "r.(?)" "p.(Leu512Valfs*10)" "17"
"0000485758" "00017482" "99" "1669" "0" "1669" "0" "c.1669del" "r.(?)" "p.(Ile557Serfs*54)" "17"
"0000485759" "00017482" "99" "1727" "0" "1730" "0" "c.1727_1730del" "r.(?)" "p.(Ser576Trpfs*34)" "18"
"0000485760" "00017482" "99" "1833" "0" "1833" "0" "c.1833del" "r.(?)" "p.(Arg611Serfs*12)" "19"
"0000485761" "00017482" "99" "1947" "0" "1951" "0" "c.1947_1951del" "r.(?)" "p.(Phe650*)" "19"
"0000485762" "00017482" "99" "1974" "0" "1981" "0" "c.1974_1981del" "r.(?)" "p.(Tyr659Alafs*6)" "20"
"0000485763" "00017482" "99" "2089" "0" "2090" "0" "c.2089_2090del" "r.(?)" "p.(Asp697Glnfs*23)" "20"
"0000485764" "00017482" "99" "2168" "0" "2168" "0" "c.2168del" "r.(?)" "p.(Ile723Thrfs*3)" "21"
"0000485765" "00017482" "99" "2174" "0" "2174" "0" "c.2174del" "r.(?)" "p.(Val725Glufs*19)" "21"
"0000485766" "00017482" "99" "2296" "0" "2296" "0" "c.2296del" "r.(?)" "p.(Thr766Glnfs*44)" "22"
"0000485767" "00017482" "99" "2492" "0" "2495" "0" "c.2492_2495del" "r.(?)" "p.(Ile831Lysfs*17)" "24"
"0000485768" "00017482" "99" "2627" "0" "2627" "0" "c.2627del" "r.(?)" "p.(Arg876Profs*29)" "25"
"0000485769" "00017482" "55" "2063" "0" "2063" "0" "c.2063T>G" "r.(?)" "p.(Leu688Arg)" "20"
"0000485770" "00017482" "55" "2272" "0" "2272" "0" "c.2272T>C" "r.(?)" "p.(Ser758Pro)" "22"
"0000485771" "00017482" "99" "1199" "0" "1205" "0" "c.1199_1205del" "r.(?)" "p.(Leu400Profs*8)" "12"
"0000485772" "00017482" "55" "939" "0" "939" "0" "c.939G>T" "r.(?)" "p.(Glu313Asp)" "9"
"0000485773" "00017482" "55" "1421" "3" "1421" "3" "c.1421+3A>T" "r.spl?" "p.?" "15i"
"0000485774" "00017482" "55" "1498" "5" "1498" "5" "c.1498+5G>C" "r.spl?" "p.?" "16i"
"0000485775" "00017482" "55" "1695" "2" "1695" "2" "c.1695+2T>G" "r.spl" "p.?" "17i"
"0000485776" "00017482" "55" "2106" "2" "2106" "2" "c.2106+2T>C" "r.2073_2106del" "p.(Tyr692Leufs*2)" "20i"
"0000485777" "00017482" "55" "2520" "2" "2520" "2" "c.2520+2T>A" "r.spl" "p.?" "24i"
"0000485778" "00017482" "55" "137" "1" "137" "1" "c.137+1G>A" "r.spl" "p.?" "1i"
"0000485779" "00017482" "55" "138" "-8" "138" "-8" "c.138-8T>G" "r.spl" "p.(=)" "1i"
"0000485780" "00017482" "55" "380" "3" "380" "3" "c.380+3A>C" "r.spl?" "p.?" "3i"
"0000485781" "00017482" "55" "381" "-1" "381" "-1" "c.381-1G>C" "r.spl" "p.?" "3i"
"0000485782" "00017482" "55" "501" "-15" "501" "-15" "c.501-15T>G" "r.spl" "p.(=)" "4i"
"0000485783" "00017482" "55" "608" "-2" "608" "-2" "c.608-2A>G" "r.spl" "p.?" "6i"
"0000485784" "00017482" "55" "939" "4" "939" "4" "c.939+4A>G" "r.spl?" "p.?" "9i"
"0000485785" "00017482" "55" "1049" "3" "1049" "3" "c.1049+3A>G" "r.spl?" "p.?" "10i"
"0000485786" "00017482" "55" "1389" "4" "1389" "4" "c.1389+4A>G" "r.spl?" "p.?" "14i"
"0000485787" "00017482" "55" "1499" "-2" "1499" "-2" "c.1499-2A>T" "r.spl" "p.?" "16i"
"0000485788" "00017482" "55" "1499" "-2" "1499" "-2" "c.1499-2A>C" "r.spl" "p.?" "16i"
"0000485789" "00017482" "55" "1695" "1" "1695" "1" "c.1695+1G>T" "r.spl" "p.?" "17i"
"0000485790" "00017482" "55" "1960" "5" "1960" "5" "c.1960+5G>C" "r.spl?" "p.(Met605Ilefs*14)" "19i"
"0000485791" "00017482" "55" "2326" "-8" "2326" "-8" "c.2326-8T>A" "r.spl" "p.(=)" "22i"
"0000485792" "00017482" "55" "2326" "-2" "2326" "-2" "c.2326-2A>G" "r.spl" "p.?" "22i"
"0000485793" "00017482" "55" "2490" "-26" "2490" "-26" "c.2490-26A>C" "r.spl" "p.(=)" "23i"
"0000485794" "00017482" "55" "2490" "-26" "2490" "-26" "c.2490-26A>G" "r.spl" "p.(=)" "23i"
"0000485795" "00017482" "55" "1689" "0" "1689" "0" "c.1689G>T" "r.(?)" "p.(Trp563Cys)" "17"
"0000485796" "00017482" "55" "2117" "0" "2117" "0" "c.2117G>T" "r.(?)" "p.(Cys706Phe)" "21"
"0000485797" "00017482" "55" "920" "0" "921" "0" "c.920_921delinsTGGACT" "r.(?)" "p.(Thr307Metfs*4)" "9"
"0000485798" "00017482" "55" "607" "1" "607" "2" "c.607+1_607+2insC" "r.spl" "p.?" "6i"
"0000485799" "00017482" "99" "2331" "0" "2331" "0" "c.2331del" "r.(?)" "p.(Thr778Profs*32)" "23"
"0000485800" "00017482" "55" "-193" "0" "-193" "0" "c.-193T>G" "r.(=)" "p.(=)" "_1"
"0000485801" "00017482" "55" "1643" "0" "1644" "0" "c.1643_1644del" "r.(?)" "p.(Lys548Thrfs*6)" "17"
"0000485802" "00017482" "99" "1575" "0" "1575" "0" "c.1575del" "r.(?)" "p.(Phe526Leufs*6)" "17"
"0000485803" "00017482" "55" "-249" "0" "-147" "0" "c.-249_-147del" "r.0?" "p.0?" "_1"
"0000485804" "00017482" "99" "310" "0" "325" "0" "c.310_325del" "r.(?)" "p.(Phe104Thrfs*2)" "3"
"0000485805" "00017482" "99" "2422" "0" "2440" "0" "c.2422_2440del" "r.(?)" "p.(Pro808Lysfs*12)" "23"
"0000485806" "00017482" "55" "1422" "-8" "1422" "-8" "c.1422-8del" "r.(?)" "p.(=)" "15i"
"0000485807" "00017482" "55" "1422" "-18" "1422" "-18" "c.1422-18T>C" "r.(?)" "p.(=)" "15i"
"0000485808" "00017482" "55" "1499" "-10" "1499" "-10" "c.1499-10del" "r.(?)" "p.(=)" "16i"
"0000485809" "00017482" "99" "444" "0" "445" "0" "c.444_445insAT" "r.(?)" "p.(Ser149Ilefs*5)" "4"
"0000485810" "00017482" "55" "1965" "0" "1967" "0" "c.1965_1967del" "r.(?)" "p.(Tyr655*)" "20"
"0000485811" "00017482" "99" "1968" "0" "1969" "0" "c.1968_1969del" "r.(?)" "p.(Leu657Serfs*10)" "20"
"0000485812" "00017482" "99" "1966" "0" "1967" "0" "c.1966_1967insAT" "r.(?)" "p.(Arg656Hisfs*3)" "20"
"0000485813" "00017482" "55" "1230" "0" "1231" "0" "c.1230_1231delinsGG" "r.(?)" "p.(Asn410_Pro411delinsLysAla)" "13"
"0000485814" "00017482" "55" "2360" "0" "2360" "0" "c.2360G>A" "r.(?)" "p.(Arg787Gln)" "23"
"0000485815" "00017482" "55" "2105" "0" "2108" "0" "c.2105_2108del" "r.spl" "p.(Gln702LeufsTer2)" ""
"0000485816" "00017482" "55" "1696" "0" "1696" "0" "c.1696G>A" "r.spl" "p.(Asp566Asn)" "18"
"0000485817" "00017482" "55" "1072" "0" "1072" "0" "c.1072C>G" "r.(?)" "p.(Arg358Gly)" "11"
"0000485818" "00017482" "55" "1695" "3" "1695" "3" "c.1695+3A>T" "r.spl?" "p.?" "17i"
"0000485819" "00017482" "55" "1984" "0" "1984" "0" "c.1984C>T" "r.(?)" "p.(=)" "20"
"0000485820" "00017482" "55" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Ile196Thr)" "6"
"0000485821" "00017482" "99" "45" "0" "78" "0" "c.45_78dup" "r.(?)" "p.(Pro27Cysfs*15)" "1"
"0000485822" "00017482" "99" "1450" "0" "1451" "0" "c.1450_1451insCATTTTT" "r.(?)" "p.(Met484Thrfs*11)" "16"
"0000485823" "00017482" "55" "-193" "0" "-193" "0" "c.-193T>A" "r.(=)" "p.(=)" "_1"
"0000485824" "00017482" "55" "381" "-2" "381" "-2" "c.381-2A>G" "r.spl" "p.?" "3i"
"0000485825" "00017482" "55" "1498" "0" "1498" "0" "c.1498A>C" "r.spl" "p.(Arg500=)" "16"
"0000485826" "00017482" "55" "1479" "0" "1479" "0" "c.1479T>C" "r.(?)" "p.(=)" "16"
"0000485827" "00017482" "55" "2104" "0" "2106" "2" "c.2104_2106+2delinsN[26]" "r.spl" "p.?" "20"
"0000485828" "00017482" "55" "1499" "0" "1499" "0" "c.1499G>T" "r.(?)" "p.(Arg500Ile)" "17"
"0000485829" "00017482" "55" "2212" "-24" "2212" "-16" "c.2212-24_2212-16del" "r.(?)" "p.(=)" "21i"
"0000485830" "00017482" "55" "688" "0" "688" "0" "c.688T>C" "r.(?)" "p.(Ser230Pro)" "7"
"0000485831" "00017482" "55" "2053" "0" "2053" "0" "c.2053C>T" "r.(?)" "p.(Gln685*)" "20"
"0000485832" "00017482" "55" "1339" "0" "1339" "0" "c.1339A>T" "r.(?)" "p.(Lys447*)" "14"
"0000485833" "00017482" "55" "43" "0" "65" "0" "c.43_65del" "r.(?)" "p.(Ala15Thrfs*8)" "1"
"0000485834" "00017482" "55" "2211" "5" "2211" "5" "c.2211+5del" "r.spl?" "p.?" "21i"
"0000485835" "00017482" "55" "1688" "0" "1688" "0" "c.1688G>T" "r.(?)" "p.(Trp563Leu)" "17"
"0000485836" "00017482" "55" "1970" "0" "1970" "0" "c.1970T>C" "r.(?)" "p.(Leu657Pro)" "20"
"0000485837" "00017482" "55" "-495" "0" "-495" "0" "c.-495T>C" "r.(=)" "p.(=)" "_1"
"0000485838" "00017482" "55" "502" "0" "502" "0" "c.502A>C" "r.(?)" "p.(Thr168Pro)" "5"
"0000485839" "00017482" "99" "1568" "0" "1568" "0" "c.1568T>G" "r.(?)" "p.(Leu523*)" "17"
"0000485840" "00017482" "55" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(=)" "6"
"0000485841" "00017482" "99" "794" "0" "798" "0" "c.794_798dup" "r.(?)" "p.(Leu267Asnfs*3)" "8"
"0000485842" "00017482" "99" "130" "0" "130" "0" "c.130del" "r.(?)" "p.(Leu44Serfs*21)" "1"
"0000485843" "00017482" "55" "860" "0" "860" "0" "c.860del" "r.(?)" "p.(Glu287Glyfs*2)" "8"
"0000485844" "00017482" "55" "1571" "0" "1573" "0" "c.1571_1573del" "r.(?)" "p.(Lys524_Ala525delinsThr)" "17"
"0000485845" "00017482" "99" "1268" "0" "1268" "0" "c.1268del" "r.(?)" "p.(Gly423Aspfs*34)" "13"
"0000485846" "00017482" "99" "1367" "0" "1380" "0" "c.1367_1380del" "r.(?)" "p.(Val456Alafs*2)" "14"
"0000485847" "00017482" "99" "65" "0" "65" "0" "c.65del" "r.(?)" "p.(Ala22Aspfs*43)" "1"
"0000485848" "00017482" "99" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Gln93*)" "3"
"0000485849" "00017482" "99" "2118" "0" "2118" "0" "c.2118T>A" "r.(?)" "p.(Cys706*)" "21"
"0000485850" "00017482" "99" "2470" "0" "2470" "0" "c.2470A>T" "r.(?)" "p.(Lys824*)" "23"
"0000485851" "00017482" "55" "1128" "-1" "1128" "-1" "c.1128-1G>A" "r.spl" "p.?" "11i"
"0000485852" "00017482" "55" "2325" "5" "2325" "5" "c.2325+5G>C" "r.spl?" "p.?" "22i"
"0000485853" "00017482" "55" "652" "0" "652" "0" "c.652T>G" "r.(?)" "p.(Leu218Val)" "7"
"0000485854" "00017482" "55" "612" "0" "612" "0" "c.612A>G" "r.(?)" "p.(=)" "7"
"0000485855" "00017482" "55" "-4" "0" "-4" "0" "c.-4C>G" "r.(?)" "p.(=)" "1"
"0000485856" "00017482" "55" "1518" "0" "1518" "0" "c.1518T>G" "r.(?)" "p.(=)" "17"
"0000485857" "00017482" "55" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Asn123Asp)" "3"
"0000485858" "00017482" "55" "2392" "0" "2392" "0" "c.2392C>T" "r.(?)" "p.(Arg798Trp)" "23"
"0000485859" "00017482" "55" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Met704Val)" "21"
"0000485860" "00017482" "55" "1463" "0" "1463" "0" "c.1463C>A" "r.(?)" "p.(Ala488Glu)" "16"
"0000485861" "00017482" "55" "656" "0" "656" "0" "c.656T>C" "r.(?)" "p.(Met219Thr)" "7"
"0000485862" "00017482" "55" "65" "0" "65" "0" "c.65C>A" "r.(?)" "p.(Ala22Glu)" "1"
"0000485863" "00017482" "99" "1017" "0" "1017" "0" "c.1017del" "r.(?)" "p.(His339Glnfs*10)" "10"
"0000485864" "00017482" "55" "1843" "0" "1843" "0" "c.1843A>T" "r.(?)" "p.(Lys615*)" "19"
"0000485865" "00017482" "99" "2011" "0" "2014" "0" "c.2011_2014del" "r.(?)" "p.(Glu672Thrfs*4)" "20"
"0000485866" "00017482" "99" "2307" "0" "2308" "0" "c.2307_2308delinsTTTT" "r.(?)" "p.(Leu769Phefs*42)" "22"
"0000485867" "00017482" "99" "1454" "0" "1454" "0" "c.1454del" "r.(?)" "p.(Ser485Phefs*10)" "16"
"0000485868" "00017482" "99" "1988" "0" "1988" "0" "c.1988del" "r.(?)" "p.(Asn663Ilefs*14)" "20"
"0000485869" "00017482" "99" "1125" "0" "1127" "0" "c.1125_1127delinsAA" "r.1049_1127del" "p.(Thr377LeufsTer3)" "11"
"0000485870" "00017482" "77" "1819" "0" "1819" "0" "c.1819C>A" "r.(?)" "p.(Leu607Ile)" "19"
"0000485871" "00017482" "77" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621Cys)" "19"
"0000485872" "00017482" "77" "2092" "0" "2092" "0" "c.2092A>T" "r.(?)" "p.(Arg698Trp)" "20"
"0000485873" "00017482" "55" "1770" "0" "1770" "0" "c.1770T>C" "r.(?)" "p.(=)" "18"
"0000485874" "00017482" "55" "1128" "-73" "1128" "-73" "c.1128-73T>G" "r.(?)" "p.(=)" "11i"
"0000485875" "00017482" "77" "473" "0" "473" "0" "c.473T>C" "r.(?)" "p.(Leu158Ser)" "4"
"0000485876" "00017482" "77" "413" "0" "413" "0" "c.413T>G" "r.(?)" "p.(Ile138Ser)" "4"
"0000485877" "00017482" "77" "2381" "0" "2381" "0" "c.2381G>T" "r.(?)" "p.(Ser794Ile)" "23"
"0000485878" "00017482" "55" "622" "0" "622" "0" "c.622A>G" "r.(?)" "p.(Met208Val)" "7"
"0000485879" "00017482" "77" "2686" "0" "2688" "0" "c.2686_2688del" "r.(?)" "p.(Lys896del)" "26"
"0000485880" "00017482" "55" "2077" "0" "2077" "0" "c.2077del" "r.(?)" "p.(Glu693Asnfs*3)" "20"
"0000485881" "00017482" "77" "1538" "0" "1539" "0" "c.1538_1539del" "r.(?)" "p.(Ser513Phefs*9)" "17"
"0000485882" "00017482" "77" "773" "0" "773" "0" "c.773del" "r.(?)" "p.(Asn258Thrfs*6)" "8"
"0000485883" "00017482" "55" "559" "0" "559" "0" "c.559T>A" "r.(?)" "p.(Ser187Thr)" "6"
"0000485884" "00017482" "55" "1834" "0" "1834" "0" "c.1834T>C" "r.(?)" "p.(Ser612Pro)" "19"
"0000485885" "00017482" "55" "1753" "0" "1753" "0" "c.1753C>T" "r.(?)" "p.(His585Tyr)" "18"
"0000485886" "00017482" "77" "2489" "2" "2489" "2" "c.2489+2T>C" "r.spl" "p.?" "23i"
"0000485887" "00017482" "99" "848" "0" "852" "0" "c.848_852del" "r.(?)" "p.(Cys283Tyrfs*3)" "8"
"0000485888" "00017482" "99" "45" "0" "76" "0" "c.45_76del" "r.(?)" "p.(Ala17Profs*3)" "1"
"0000485889" "00017482" "99" "1597" "0" "1597" "0" "c.1597del" "r.(?)" "p.(Glu533Lysfs*10)" "17"
"0000485890" "00017482" "99" "100" "0" "100" "0" "c.100G>T" "r.(?)" "p.(Glu34*)" ""
"0000485891" "00017482" "77" "539" "0" "539" "0" "c.539C>G" "r.[539c>g,501_539del]" "p.(Ser180Trp)" "5"
"0000485892" "00017482" "55" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(His129Tyr)" "4"
"0000485893" "00017482" "55" "1499" "-1" "1499" "-1" "c.1499-1G>T" "r.spl" "p.?" "16i"
"0000485894" "00017482" "99" "2212" "-1" "2212" "-1" "c.2212-1G>T" "r.spl" "p.?" "21i"
"0000485895" "00017482" "99" "265" "0" "265" "0" "c.265G>T" "r.spl" "p.(Gly89*)" ""
"0000485896" "00017482" "55" "351" "0" "351" "0" "c.351del" "r.(?)" "p.(Phe117Leufs*8)" "3"
"0000485897" "00017482" "99" "832" "0" "832" "0" "c.832dup" "r.(?)" "p.(Cys278Leufs*2)" "8"
"0000485898" "00017482" "55" "1851" "0" "1851" "0" "c.1851T>C" "r.(?)" "p.(=)" "19"
"0000485899" "00017482" "55" "1943" "0" "1943" "0" "c.1943del" "r.(?)" "p.(Ser648Tyrfs*10)" "19"
"0000485900" "00017482" "55" "771" "0" "772" "0" "c.771_772dup" "r.(?)" "p.(Asn258Argfs*7)" "8"
"0000485901" "00017482" "55" "302" "0" "302" "0" "c.302del" "r.(?)" "p.(Ile101Thrfs*10)" "3"
"0000485902" "00017482" "55" "1206" "0" "1206" "0" "c.1206C>T" "r.(?)" "p.(=)" "12"
"0000485903" "00017482" "55" "1903" "0" "1912" "0" "c.1903_1912dup" "r.(?)" "p.(Thr638Serfs*18)" "19"
"0000485904" "00017482" "55" "1732" "0" "1732" "0" "c.1732del" "r.(?)" "p.(Asp578Thrfs*33)" "18"
"0000485905" "00017482" "55" "2113" "0" "2115" "0" "c.2113_2115del" "r.(?)" "p.(Met705del)" "21"
"0000485906" "00017482" "11" "2463" "0" "2463" "0" "c.2463A>G" "r.(?)" "p.(=)" "23"
"0000485907" "00017482" "99" "2119" "0" "2119" "0" "c.2119T>C" "r.(?)" "p.(Ser707Pro)" "21"
"0000485908" "00017482" "55" "857" "0" "857" "0" "c.857A>G" "r.(?)" "p.(Asp286Gly)" "8"
"0000485909" "00017482" "55" "914" "0" "914" "0" "c.914T>G" "r.(?)" "p.(Leu305Arg)" "9"
"0000485910" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.M546fsX547" "17"
"0000485911" "00017482" "55" "1815" "-1" "1815" "-1" "c.1815-1G>T" "r.spl" "p.?" "18i"
"0000485912" "00017482" "55" "1954" "0" "1954" "0" "c.1954A>T" "r.(?)" "p.(Lys652*)" "19"
"0000485913" "00017482" "55" "2073" "0" "2073" "0" "c.2073G>T" "r.(?)" "p.(Glu691Asp)" "20"
"0000485914" "00017482" "55" "2210" "0" "2210" "0" "c.2210del" "r.(?)" "p.E737fsX747" "21"
"0000485915" "00017482" "99" "2093" "0" "2096" "0" "c.2093_2096del" "r.(?)" "p.(Arg698Ilefs*6)" "20"
"0000485916" "00017482" "55" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1"
"0000485917" "00017482" "55" "1123" "0" "1123" "0" "c.1123G>T" "r.spl" "p.(Val375Phe)" "11"
"0000485918" "00017482" "55" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(=)" "12"
"0000485919" "00017482" "55" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Glu54Gly)" "2"
"0000485920" "00017482" "33" "31" "0" "33" "0" "c.31_33dup" "r.(?)" "p.(Ala11dup)" "1"
"0000485921" "00017482" "33" "78" "0" "80" "0" "c.78_80del" "r.(?)" "p.(Pro29del)" "1"
"0000485922" "00017482" "55" "238" "0" "238" "0" "c.238A>G" "r.(?)" "p.(Lys80Glu)" "2"
"0000485923" "00017482" "55" "1049" "0" "1049" "0" "c.1049G>T" "r.spl" "p.(Ser350Ile)" "10"
"0000485924" "00017482" "33" "2455" "0" "2455" "0" "c.2455C>T" "r.(?)" "p.(=)" "23"
"0000485925" "00017482" "55" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Ser391Leu)" "12"
"0000485926" "00017482" "55" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(His483Tyr)" "16"
"0000485927" "00017482" "55" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.0?" "1"
"0000485928" "00017482" "33" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Pro23Leu)" "1"
"0000485929" "00017482" "55" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Gln217*)" "7"
"0000485930" "00017482" "55" "2029" "0" "2029" "0" "c.2029del" "r.(?)" "p.(Glu677Asnfs*19)" "20"
"0000485931" "00017482" "77" "1960" "0" "1960" "0" "c.1960G>T" "r.(?)" "p.(Val654Leu)" "19"
"0000485932" "00017482" "55" "116" "0" "116" "0" "c.116del" "r.(?)" "p.(Pro39Argfs*26)" "1"
"0000485933" "00017482" "55" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Val314Ile)" "9i"
"0000485934" "00017482" "99" "1124" "0" "1124" "0" "c.1124T>G" "r.1124_1126del" "p.(Val375Gly)" "11"
"0000485935" "00017482" "55" "635" "0" "635" "0" "c.635del" "r.(?)" "p.(Leu212Argfs*2)" "7"
"0000485936" "00017482" "99" "1736" "0" "1736" "0" "c.1736del" "r.(?)" "p.(Arg579Glnfs*32)" "18"
"0000485937" "00017482" "99" "264" "4" "264" "4" "c.264+4A>G" "r.spl?" "p.?" "2i"
"0000485938" "00017482" "99" "723" "0" "730" "0" "c.723_730dup" "r.(?)" "p.(Ile244Lysfs*23)" "8"
"0000485939" "00017482" "55" "541" "0" "607" "1" "c.541_607+1del" "r.spl" "p.?" "6"
"0000485940" "00017482" "55" "2490" "0" "2713" "0" "c.2490_2713del" "r.2490_2713del" "p.(Arg830Serfs*14)" ""
"0000485941" "00017482" "55" "1333" "-1389" "1333" "-1389" "c.1333-1389del" "r.1333-1389del" "exon skipping" "14"
"0000485942" "00017482" "99" "916" "0" "933" "0" "c.916_933del" "r.(?)" "p.(Val306_Leu311del)" "9"
"0000485943" "00017482" "55" "2169" "0" "2444" "0" "c.2169_2444del" "r.2169_2444del" "p.Ile724_Ile815del" ""
"0000485944" "00017482" "55" "940" "-2" "940" "-2" "c.940-2A>T" "r.spl" "p.?" "9i"
"0000485945" "00017482" "55" "264" "2" "264" "2" "c.264+2T>C" "r.spl" "p.?" "2i"
"0000485946" "00017482" "55" "265" "-1" "265" "-1" "c.265-1G>A" "r.spl" "p.?" "2i"
"0000485947" "00017482" "55" "265" "-1" "265" "-1" "c.265-1G>T" "r.spl" "p.?" "2i"
"0000485948" "00017482" "55" "1049" "2" "1049" "2" "c.1049+2T>A" "r.spl" "p.?" "10i"
"0000485949" "00017482" "55" "1128" "-2" "1128" "-2" "c.1128-2A>G" "r.spl" "p.?" "11i"
"0000485950" "00017482" "55" "1215" "1" "1215" "1" "c.1215+1G>T" "r.spl" "p.?" "12i"
"0000485951" "00017482" "55" "1216" "-1" "1216" "-1" "c.1216-1G>A" "r.spl" "p.?" "12i"
"0000485952" "00017482" "55" "1216" "-1" "1216" "-1" "c.1216-1G>C" "r.spl" "p.?" "12i"
"0000485953" "00017482" "55" "1332" "2" "1332" "2" "c.1332+2T>G" "r.spl" "p.?" "13i"
"0000485954" "00017482" "55" "1499" "-2" "1499" "-2" "c.1499-2A>G" "r.spl" "p.?" "16i"
"0000485955" "00017482" "55" "1696" "-1" "1696" "-1" "c.1696-1G>T" "r.spl" "p.?" "17i"
"0000485956" "00017482" "55" "1961" "-1" "1961" "-1" "c.1961-1G>T" "r.spl" "p.?" "19i"
"0000485957" "00017482" "55" "1961" "-1" "1961" "-1" "c.1961-1G>A" "r.spl" "p.?" "19i"
"0000485958" "00017482" "55" "2326" "-2" "2326" "-2" "c.2326-2A>C" "r.spl" "p.?" "22i"
"0000485959" "00017482" "55" "2490" "-1" "2490" "-1" "c.2490-1G>C" "r.spl" "p.?" "23i"
"0000485960" "00017482" "55" "793" "0" "793" "0" "c.793A>T" "r.(?)" "p.(Lys265*)" "8"
"0000485961" "00017482" "55" "2212" "-5" "2213" "0" "c.2212-5_2213del" "r.spl" "p.?" "21i"
"0000485962" "00017482" "55" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Glu31*)" "1"
"0000485963" "00017482" "55" "151" "0" "151" "0" "c.151G>T" "r.(?)" "p.(Glu51*)" "2"
"0000485964" "00017482" "55" "183" "0" "183" "0" "c.183T>A" "r.(?)" "p.(Cys61*)" "2"
"0000485965" "00017482" "55" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Trp75*)" "2"
"0000485966" "00017482" "55" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Trp78*)" "2"
"0000485967" "00017482" "55" "235" "0" "235" "0" "c.235G>T" "r.(?)" "p.(Glu79*)" "2"
"0000485968" "00017482" "55" "448" "0" "448" "0" "c.448A>T" "r.(?)" "p.(Arg150*)" "4"
"0000485969" "00017482" "99" "1937" "0" "1940" "0" "c.1937_1940del" "r.(?)" "p.(Ser646Phefs*11)" "19"
"0000485970" "00017482" "55" "2390" "0" "2390" "0" "c.2390T>A" "r.(?)" "p.(Leu797*)" "23"
"0000485971" "00017482" "55" "1987" "0" "1988" "0" "c.1987_1988insN[19]" "r.(?)" "p.?" "20"
"0000485972" "00017482" "55" "2170" "0" "2170" "0" "c.2170?" "r.(?)" "p.?" "21"
"0000485973" "00017482" "55" "982" "0" "982" "0" "c.982A>C" "r.(?)" "p.(Asn328His)" "10"
"0000485974" "00017482" "55" "400" "0" "407" "0" "c.400_407del" "r.(?)" "p.(Leu134Argfs*3)" ""
"0000485975" "00017482" "55" "2717" "0" "2718" "0" "c.2717_2718dup" "r.(?)" "p.(Thr907Leufs*11)" "27"
"0000485976" "00017482" "55" "640" "0" "640" "0" "c.640del" "r.(?)" "p.(Ile214Phefs*5)" "7"
"0000485977" "00017482" "55" "1953" "0" "1953" "0" "c.1953T>G" "r.(?)" "p.(Tyr651*)" "19"
"0000485978" "00017482" "55" "719" "-2" "719" "-2" "c.719-2A>G" "r.spl" "p.?" "7i"
"0000485979" "00017482" "55" "975" "0" "975" "0" "c.975T>A" "r.(?)" "p.(Tyr325*)" "10"
"0000485980" "00017482" "55" "1272" "0" "1272" "0" "c.1272C>A" "r.(?)" "p.(Tyr424*)" "13"
"0000485981" "00017482" "55" "1689" "0" "1689" "0" "c.1689G>A" "r.(?)" "p.(Trp563*)" "17"
"0000485982" "00017482" "55" "1700" "0" "1700" "0" "c.1700C>A" "r.(?)" "p.(Ser567*)" "18"
"0000485983" "00017482" "55" "1727" "0" "1727" "0" "c.1727C>G" "r.(?)" "p.(Ser576*)" "18"
"0000485984" "00017482" "55" "2268" "0" "2268" "0" "c.2268T>A" "r.(?)" "p.(Tyr756*)" "22"
"0000485985" "00017482" "55" "2486" "0" "2486" "0" "c.2486C>A" "r.(?)" "p.(Ser829*)" "23"
"0000485986" "00017482" "55" "64" "0" "64" "0" "c.64dup" "r.(?)" "p.(Ala22Glyfs*9)" "1"
"0000485987" "00017482" "55" "61" "0" "74" "0" "c.61_74del" "r.(?)" "p.(Pro21Alafs*5)" "1"
"0000485988" "00017482" "55" "124" "0" "124" "0" "c.124del" "r.(?)" "p.(Leu42Cysfs*23)" "1"
"0000485989" "00017482" "55" "227" "0" "227" "0" "c.227del" "r.(?)" "p.(Leu76*)" "2"
"0000485990" "00017482" "55" "139" "0" "264" "1" "c.139_264+1del" "r.(?)" "p.(Leu47Glufs*22)" "2"
"0000485991" "00017482" "55" "336" "0" "340" "0" "c.336_340del" "r.(?)" "p.(Glu112Aspfs*6)" "3"
"0000485992" "00017482" "55" "346" "0" "349" "0" "c.346_349del" "r.(?)" "p.(Thr116Leufs*8)" "3"
"0000485993" "00017482" "55" "412" "0" "412" "0" "c.412dup" "r.(?)" "p.(Ile138Asnfs*2)" "4"
"0000485994" "00017482" "55" "484" "0" "485" "0" "c.484_485delinsN[?]" "r.(?)" "p.Phe162ProfsX13" ""
"0000485995" "00017482" "55" "494" "0" "494" "0" "c.494del" "r.(?)" "p.(Leu165Trpfs*10)" "4"
"0000485996" "00017482" "55" "542" "0" "542" "0" "c.542dup" "r.spl?" "p.(Ser182IlefsTer3)" "6"
"0000485997" "00017482" "55" "583" "0" "583" "0" "c.583dup" "r.(?)" "p.(Trp195Leufs*8)" "6"
"0000485998" "00017482" "55" "648" "0" "648" "0" "c.648del" "r.(?)" "p.(Gln217Serfs*2)" "7"
"0000485999" "00017482" "55" "799" "0" "836" "0" "c.799_836del" "r.(?)" "p.(Leu267Argfs*3)" "8"
"0000486000" "00017482" "55" "1638" "0" "1638" "0" "c.1638del" "r.(?)" "p.(Met546Ilefs*2)" "17"
"0000486001" "00017482" "55" "-192" "0" "-192" "0" "c.-192G>A" "r.(=)" "p.(=)" "_1"
"0000486002" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "21"
"0000486003" "00017482" "55" "1422" "-1" "1422" "-1" "c.1422-1?" "r.(?)" "p.?" "15"
"0000486004" "00017482" "55" "1956" "0" "1956" "0" "c.1956A>T" "r.(?)" "p.(Lys652Asn)" "19"
"0000486005" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "7"
"0000486006" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "12"
"0000486007" "00017482" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "8"
"0000486008" "00017482" "55" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl" "p.?" "23i"
"0000486009" "00017482" "55" "878" "0" "878" "0" "c.878dup" "r.(?)" "p.(Lys294Glnfs*16)" "9"
"0000486010" "00017482" "55" "884" "0" "884" "0" "c.884dup" "r.(?)" "p.(Asn295Lysfs*15)" "9"
"0000486011" "00017482" "55" "970" "0" "970" "0" "c.970dup" "r.(?)" "p.(Ile324Asnfs*4)" "10"
"0000486012" "00017482" "55" "1017" "0" "1039" "0" "c.1017_1039del" "r.(?)" "p.(Asp340Tyrfs*5)" "10"
"0000486013" "00017482" "55" "1167" "0" "1168" "0" "c.1167_1168insT" "r.(?)" "p.(Asn390*)" "12"
"0000486014" "00017482" "55" "1190" "0" "1190" "0" "c.1190del" "r.(?)" "p.(Ser397*)" "12"
"0000486015" "00017482" "55" "1252" "0" "1252" "0" "c.1252del" "r.(?)" "p.(Arg418Glufs*2)" "13"
"0000486016" "00017482" "55" "1268" "0" "1268" "0" "c.1268dup" "r.(?)" "p.(Tyr424Ilefs*4)" "13"
"0000486017" "00017482" "55" "1321" "0" "1321" "0" "c.1321dup" "r.(?)" "p.(Ile441Asnfs*22)" "13"
"0000486018" "00017482" "55" "1325" "0" "1325" "0" "c.1325del" "r.(?)" "p.(Gly442Aspfs*15)" "13"
"0000486019" "00017482" "55" "1448" "0" "1448" "0" "c.1448dup" "r.(?)" "p.(His483Glnfs*10)" "16"
"0000486020" "00017482" "55" "1447" "0" "1448" "0" "c.1447_1448del" "r.(?)" "p.(His483Tyrfs*9)" "16"
"0000486021" "00017482" "55" "1452" "0" "1453" "0" "c.1452_1453del" "r.(?)" "p.(Met484Ilefs*8)" "16"
"0000486022" "00017482" "55" "1486" "0" "1487" "0" "c.1486_1487insT" "r.(?)" "p.(Ala496Valfs*4)" "16"
"0000486023" "00017482" "55" "1585" "0" "1585" "0" "c.1585del" "r.(?)" "p.(Tyr529Thrfs*3)" "17"
"0000486024" "00017482" "55" "1659" "0" "1674" "0" "c.1659_1674del" "r.(?)" "p.(Cys553Trpfs*53)" "17"
"0000486025" "00017482" "55" "1717" "0" "1717" "0" "c.1717dup" "r.(?)" "p.(Ile573Asnfs*2)" "18"
"0000486026" "00017482" "55" "1981" "0" "1984" "0" "c.1981_1984del" "r.(?)" "p.(Arg661*)" "20"
"0000486027" "00017482" "33" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Thr58Ile)" "2"
"0000486028" "00017482" "33" "175" "0" "175" "0" "c.175G>C" "r.(?)" "p.(Ala59Pro)" "2"
"0000486029" "00017482" "99" "380" "0" "380" "0" "c.380G>T" "r.(?)" "p.(Ser127Ile)" "3"
"0000486030" "00017482" "55" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Ile)" "11"
"0000486031" "00017482" "55" "1159" "0" "1159" "0" "c.1159A>T" "r.(?)" "p.(Met387Leu)" "12"
"0000486032" "00017482" "55" "1332" "0" "1332" "0" "c.1332G>T" "r.(?)" "p.(Gln444His)" "13"
"0000486033" "00017482" "55" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Pro515Leu)" "17"
"0000486034" "00017482" "55" "1861" "0" "1861" "0" "c.1861C>A" "r.(?)" "p.(Arg621Ser)" "19"
"0000486035" "00017482" "55" "862" "-1" "862" "-1" "c.862-1G>A" "r.spl" "p.?" "9i"
"0000486036" "00017482" "55" "696" "0" "696" "0" "c.696del" "r.(?)" "p.(Met233Cysfs*31)" "7"
"0000486037" "00017482" "55" "1695" "1" "1695" "1" "c.1695+1G>A" "r.spl" "p.?" "17i"
"0000486038" "00017482" "55" "1902" "0" "1902" "0" "c.1902dup" "r.(?)" "p.(Ala635Serfs*18)" "19"
"0000486039" "00017482" "55" "889" "0" "889" "0" "c.889del" "r.(?)" "p.(Ile297Tyrfs*4)" "9"
"0000486040" "00017482" "55" "1972" "0" "1972" "0" "c.1972G>A" "r.(?)" "p.(Ala658Thr)" "20"
"0000486041" "00017482" "55" "1976" "0" "1976" "0" "c.1976A>T" "r.(?)" "p.(Tyr659Phe)" "20"
"0000486042" "00017482" "55" "2017" "0" "2017" "0" "c.2017C>G" "r.(?)" "p.(His673Asp)" "20"
"0000486043" "00017482" "55" "83" "0" "83" "0" "c.83dup" "r.(?)" "p.(Pro29Serfs*2)" "1"
"0000486044" "00017482" "55" "109" "0" "112" "0" "c.109_112delinsCCAGA" "r.(?)" "p.(Ser37Profs*12)" "1"
"0000486045" "00017482" "55" "65" "0" "66" "0" "c.65_66insN[20]" "r.(?)" "p.?" ""
"0000486046" "00017482" "55" "59" "0" "71" "0" "c.59_71del" "r.(?)" "p.(Pro20Argfs*41)" "1"
"0000486047" "00017482" "55" "137" "5" "137" "5" "c.137+5G>C" "r.spl?" "p.?" "1i"
"0000486048" "00017482" "55" "196" "0" "196" "0" "c.196dup" "r.(?)" "p.(Ile66Asnfs*44)" "2"
"0000486049" "00017482" "55" "216" "0" "220" "0" "c.216_220delinsT" "r.(?)" "p.(Glu72Aspfs*4)" "2"
"0000486050" "00017482" "55" "208" "0" "209" "0" "c.208_209del" "r.(?)" "p.(Val70Glnfs*39)" "2"
"0000486051" "00017482" "55" "264" "3" "264" "3" "c.264+3A>C" "r.spl?" "p.?" "2i"
"0000486052" "00017482" "55" "232" "0" "232" "0" "c.232del" "r.(?)" "p.(Trp78Glyfs*33)" "2"
"0000486053" "00017482" "55" "336" "0" "337" "0" "c.336_337insT" "r.(?)" "p.(Met113Tyrfs*7)" "3"
"0000486054" "00017482" "55" "337" "0" "341" "0" "c.337_341del" "r.(?)" "p.(Met113Valfs*5)" "3"
"0000486055" "00017482" "55" "500" "1" "500" "1" "c.500+1G>A" "r.spl" "p.?" "4i"
"0000486056" "00017482" "55" "540" "-1" "540" "-1" "c.540-1G>A" "r.spl" "p.?" "5i"
"0000486057" "00017482" "55" "607" "0" "608" "0" "c.607_608insN[74]" "r.(?)" "p.?" ""
"0000486058" "00017482" "55" "607" "0" "610" "0" "c.607_610delinsN[10]" "r.(?)" "p.?" ""
"0000486059" "00017482" "55" "501" "-1" "501" "-1" "c.501-1G>C" "r.spl" "p.?" "4i"
"0000486060" "00017482" "55" "644" "0" "644" "0" "c.644C>G" "r.(?)" "p.(Ser215*)" "7"
"0000486061" "00017482" "55" "709" "0" "709" "0" "c.709G>T" "r.(?)" "p.(Glu237*)" "7"
"0000486062" "00017482" "55" "721" "0" "721" "0" "c.721dup" "r.(?)" "p.(Thr241Asnfs*7)" "7"
"0000486063" "00017482" "55" "662" "0" "680" "0" "c.662_680del" "r.(?)" "p.(Cys221Leufs*37)" "7"
"0000486064" "00017482" "55" "625" "0" "625" "0" "c.625G>T" "r.(?)" "p.(Glu209*)" "7"
"0000486065" "00017482" "55" "540" "-12" "540" "-12" "c.540-12T>G" "r.spl" "p.(=)" "5i"
"0000486066" "00017482" "55" "861" "1" "861" "1" "c.861+1G>T" "r.spl" "p.?" "8i"
"0000486067" "00017482" "55" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Ser249*)" "8"
"0000486068" "00017482" "55" "853" "0" "853" "0" "c.853delinsCGG" "r.(?)" "p.(Ile285Argfs*2)" "8"
"0000486069" "00017482" "55" "884" "0" "884" "0" "c.884del" "r.(?)" "p.(Asn295Ilefs*6)" "9"
"0000486070" "00017482" "55" "905" "0" "905" "0" "c.905del" "r.(?)" "p.(Ser302Phefs*5)" "9"
"0000486071" "00017482" "55" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Gly304*)" "9"
"0000486072" "00017482" "55" "876" "0" "876" "0" "c.876T>G" "r.(?)" "p.(Tyr292*)" "9"
"0000486073" "00017482" "55" "1595" "0" "1595" "0" "c.1595dup" "r.(?)" "p.(Glu533Argfs*22)" "17"
"0000486074" "00017482" "55" "1021" "0" "1021" "0" "c.1021A>T" "r.(?)" "p.(Lys341*)" "10"
"0000486075" "00017482" "55" "1010" "0" "1010" "0" "c.1010del" "r.(?)" "p.(Leu337Trpfs*12)" "10"
"0000486076" "00017482" "55" "1118" "0" "1118" "0" "c.1118del" "r.(?)" "p.(Thr373Ilefs*7)" "11"
"0000486077" "00017482" "55" "1304" "0" "1305" "0" "c.1304_1305insC" "r.(?)" "p.(Gln436Thrfs*27)" "13"
"0000486078" "00017482" "55" "1332" "3" "1332" "3" "c.1332+3A>C" "r.spl?" "p.?" "13i"
"0000486079" "00017482" "55" "1346" "0" "1346" "0" "c.1346dup" "r.(?)" "p.(Val450Serfs*13)" "14"
"0000486080" "00017482" "55" "1362" "0" "1362" "0" "c.1362C>G" "r.(?)" "p.(Tyr454*)" "14"
"0000486081" "00017482" "55" "1402" "0" "1403" "0" "c.1402_1403insGATT" "r.(?)" "p.(Leu468*)" "15"
"0000486082" "00017482" "55" "1421" "0" "1421" "0" "c.1421G>T" "r.spl?" "p.(Ser474Ile)" "15"
"0000486083" "00017482" "55" "1447" "0" "1448" "0" "c.1447_1448insT" "r.(?)" "p.(His483Leufs*10)" "16"
"0000486084" "00017482" "55" "1498" "4" "1498" "4" "c.1498+4A>G" "r.spl?" "p.?" "16i"
"0000486085" "00017482" "55" "1694" "0" "1695" "2" "c.1694_1695+2del" "r.spl" "p.?" "17"
"0000486086" "00017482" "55" "1536" "0" "1536" "0" "c.1536del" "r.(?)" "p.(Leu512Phefs*7)" "17"
"0000486087" "00017482" "55" "1684" "0" "1684" "0" "c.1684G>C" "r.(?)" "p.(Ala562Pro)" "17"
"0000486088" "00017482" "55" "1617" "0" "1617" "0" "c.1617del" "r.(?)" "p.(Gly540Alafs*3)" "17"
"0000486089" "00017482" "55" "1649" "0" "1649" "0" "c.1649del" "r.(?)" "p.(Leu550*)" "17"
"0000486090" "00017482" "55" "1590" "0" "1590" "0" "c.1590del" "r.(?)" "p.(Val531*)" "17"
"0000486091" "00017482" "55" "1687" "0" "1687" "0" "c.1687del" "r.(?)" "p.(Trp563Glyfs*48)" "17"
"0000486092" "00017482" "55" "1585" "0" "1592" "0" "c.1585_1592del" "r.(?)" "p.(Tyr529Aspfs*23)" "17"
"0000486093" "00017482" "55" "1951" "0" "1951" "0" "c.1951del" "r.(?)" "p.(Tyr651Ilefs*7)" "19"
"0000486094" "00017482" "99" "1848" "0" "1848" "0" "c.1848dup" "r.(?)" "p.(Gly617Argfs*36)" "19"
"0000486095" "00017482" "55" "1941" "0" "1942" "0" "c.1941_1942del" "r.(?)" "p.(Ser648Thrfs*4)" "19"
"0000486096" "00017482" "55" "1995" "0" "1996" "0" "c.1995_1996del" "r.(?)" "p.(Cys666*)" "20"
"0000486097" "00017482" "55" "2084" "0" "2084" "0" "c.2084T>G" "r.(?)" "p.(Met695Arg)" "20"
"0000486098" "00017482" "55" "2084" "0" "2084" "0" "c.2084T>A" "r.(?)" "p.(Met695Lys)" ""
"0000486099" "00017482" "55" "1961" "-16" "1961" "-16" "c.1961-16T>G" "r.spl" "p.(=)" "19i"
"0000486100" "00017482" "55" "2119" "0" "2119" "0" "c.2119del" "r.(?)" "p.(Ser707Profs*8)" "21"
"0000486101" "00017482" "55" "2123" "0" "2123" "0" "c.2123T>G" "r.(?)" "p.(Met708Arg)" "21"
"0000486102" "00017482" "55" "2139" "0" "2139" "0" "c.2139dup" "r.(?)" "p.(Val714Serfs*7)" "21"
"0000486103" "00017482" "55" "2212" "-14" "2212" "-14" "c.2212-14C>G" "r.spl" "p.(=)" "21i"
"0000486104" "00017482" "55" "2216" "0" "2216" "0" "c.2216dup" "r.(?)" "p.(Lys740Glnfs*11)" "22"
"0000486105" "00017482" "55" "2220" "0" "2220" "0" "c.2220del" "r.(?)" "p.(Lys740Asnfs*4)" "22"
"0000486106" "00017482" "55" "2310" "0" "2310" "0" "c.2310del" "r.(?)" "p.(Gln770Hisfs*40)" "22"
"0000486107" "00017482" "55" "2237" "0" "2240" "0" "c.2237_2240del" "r.(?)" "p.(Glu746Glyfs*7)" "22"
"0000486108" "00017482" "55" "2312" "0" "2312" "0" "c.2312del" "r.(?)" "p.(Tyr771Leufs*39)" "22"
"0000486109" "00017482" "55" "2325" "1" "2325" "1" "c.2325+1G>T" "r.spl" "p.?" "22i"
"0000486110" "00017482" "55" "2293" "0" "2293" "0" "c.2293A>T" "r.(?)" "p.(Lys765*)" "22"
"0000486111" "00017482" "55" "2426" "0" "2426" "0" "c.2426dup" "r.(?)" "p.(Lys810Glufs*5)" "23"
"0000486112" "00017482" "55" "2402" "0" "2402" "0" "c.2402del" "r.(?)" "p.(Gly801Glufs*9)" "23"
"0000486113" "00017482" "55" "2447" "0" "2447" "0" "c.2447C>A" "r.(?)" "p.(Ser816*)" "23"
"0000486114" "00017482" "55" "2465" "0" "2465" "0" "c.2465del" "r.(?)" "p.(Pro822Glnfs*4)" "23"
"0000486115" "00017482" "55" "2489" "0" "2489" "0" "c.2489G>C" "r.spl?" "p.(Arg830Thr)" "23"
"0000486116" "00017482" "55" "2520" "2" "2520" "6" "c.2520+2_2520+6del" "r.spl" "p.?" "24"
"0000486117" "00017482" "55" "2326" "-12" "2326" "-12" "c.2326-12T>C" "r.spl" "p.(=)" "22i"
"0000486118" "00017482" "55" "2663" "2" "2663" "2" "c.2663+2T>C" "r.2521_2663del" "p.(Thr841*)" "25i"
"0000486119" "00017482" "55" "2663" "1" "2663" "1" "c.2663+1G>C" "r.spl" "p.?" "25i"
"0000486120" "00017482" "99" "599" "0" "599" "0" "c.599T>G" "r.(?)" "p.(Leu200*)" "6"
"0000486121" "00017482" "55" "1815" "-2" "1815" "-2" "c.1815-2A>G" "r.spl" "p.?" "18i"
"0000486122" "00017482" "55" "-294" "0" "-294" "0" "c.-294T>C" "r.(=)" "p.(=)" "_1"
"0000486123" "00017482" "55" "89" "0" "89" "0" "c.89del" "r.(?)" "p.(Glu30Glyfs*35)" "1"
"0000486124" "00017482" "55" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Arg7*)" "1"
"0000486125" "00017482" "55" "78" "0" "79" "0" "c.78_79insN[23]" "r.(?)" "p.?" ""
"0000486126" "00017482" "55" "1992" "0" "1993" "0" "c.1992_1993del" "r.(?)" "p.(Cys666*)" "20"
"0000486127" "00017482" "55" "519" "0" "519" "0" "c.519T>A" "r.(?)" "p.(Tyr173*)" "5"
"0000486128" "00017482" "55" "539" "1" "539" "1" "c.539+1G>C" "r.spl" "p.?" "5i"
"0000486129" "00017482" "55" "861" "1" "861" "1" "c.861+1G>A" "r.spl" "p.?" "8i"
"0000486130" "00017482" "55" "863" "0" "864" "0" "c.863_864del" "r.(?)" "p.(Val288Glufs*21)" "9"
"0000486131" "00017482" "55" "862" "-1" "862" "-1" "c.862-1G>C" "r.spl" "p.?" "9i"
"0000486132" "00017482" "55" "1393" "0" "1393" "0" "c.1393G>T" "r.(?)" "p.(Glu465*)" "15"
"0000486133" "00017482" "55" "1421" "0" "1421" "0" "c.1421G>C" "r.(?)" "p.(Ser474Thr)" "15"
"0000486134" "00017482" "55" "1498" "4" "1498" "4" "c.1498+4A>T" "r.spl?" "p.?" "16i"
"0000486135" "00017482" "55" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Cys489Tyr)" "16"
"0000486136" "00017482" "55" "2416" "0" "2417" "0" "c.2416_2417del" "r.(?)" "p.(Ile806Phefs*8)" "23"
"0000486137" "00017482" "55" "1678" "0" "1678" "0" "c.1678T>C" "r.(?)" "p.(Ser560Pro)" "17"
"0000486138" "00017482" "55" "1850" "0" "1853" "0" "c.1850_1853dup" "r.(?)" "p.(Thr619Phefs*35)" "19"
"0000486139" "00017482" "55" "2107" "-18" "2167" "0" "c.2107-18_2167del" "r.spl" "p.?" "21"
"0000486140" "00017482" "55" "2220" "0" "2227" "0" "c.2220_2227dup" "r.(?)" "p.(Leu743Tyrfs*4)" "22"
"0000486141" "00017482" "55" "2486" "0" "2489" "0" "c.2486_2489dup" "r.(?)" "p.(Arg830Serfs*9)" "23"
"0000486142" "00017482" "55" "2500" "0" "2500" "0" "c.2500dup" "r.(?)" "p.(Ser834Phefs*4)" "24"
"0000486143" "00017482" "55" "2490" "-7" "2490" "-7" "c.2490-7T>A" "r.spl" "p.(=)" "23i"
"0000486144" "00017482" "55" "1154" "0" "1157" "0" "c.1154_1157del" "r.(?)" "p.(Leu385*)" "12"
"0000486145" "00017482" "55" "599" "0" "599" "0" "c.599T>A" "r.(?)" "p.(Leu200*)" "6"
"0000486146" "00017482" "55" "259" "0" "260" "0" "c.259_260insA" "r.(?)" "p.(Val87Aspfs*23)" "2"
"0000486147" "00017482" "55" "1727" "0" "1727" "0" "c.1727C>A" "r.(?)" "p.(Ser576*)" "18"
"0000486148" "00017482" "55" "193" "0" "194" "0" "c.193_194del" "r.(?)" "p.(Lys65Aspfs*44)" "2"
"0000486149" "00017482" "55" "309" "0" "310" "0" "c.309_310dup" "r.(?)" "p.(Phe104Serfs*8)" "3"
"0000486150" "00017482" "55" "485" "0" "485" "0" "c.485dup" "r.(?)" "p.(Ser163Glnfs*8)" "4"
"0000486151" "00017482" "55" "590" "0" "591" "0" "c.590_591insT" "r.(?)" "p.(Phe198Ilefs*5)" "6"
"0000486152" "00017482" "55" "585" "0" "585" "0" "c.585G>A" "r.(?)" "p.(Trp195*)" "6"
"0000486153" "00017482" "55" "641" "0" "642" "0" "c.641_642insN[8]" "r.(?)" "p.?" ""
"0000486154" "00017482" "55" "660" "0" "661" "0" "c.660_661del" "r.(?)" "p.(Val222Profs*2)" "7"
"0000486155" "00017482" "55" "2366" "0" "2366" "0" "c.2366del" "r.(?)" "p.(Pro789Leufs*21)" "23"
"0000486156" "00017482" "55" "1853" "0" "1853" "0" "c.1853C>G" "r.(?)" "p.(Ser618*)" "19"
"0000486157" "00017482" "55" "802" "0" "802" "0" "c.802G>T" "r.(?)" "p.(Glu268*)" "8"
"0000486158" "00017482" "55" "985" "0" "985" "0" "c.985A>T" "r.(?)" "p.(Lys329*)" "10"
"0000486159" "00017482" "55" "940" "-1" "940" "-1" "c.940-1G>A" "r.spl" "p.?" "9i"
"0000486160" "00017482" "55" "1604" "0" "1605" "0" "c.1604_1605del" "r.(?)" "p.(Phe535Tyrfs*19)" "17"
"0000486161" "00017482" "55" "1734" "0" "1735" "0" "c.1734_1735delinsA" "r.(?)" "p.(Asp578Glufs*33)" ""
"0000486162" "00017482" "55" "121" "0" "122" "0" "c.121_122insN[10]" "r.(?)" "p.?" "1"
"0000486163" "00017482" "55" "812" "0" "812" "0" "c.812dup" "r.(?)" "p.(Arg272Lysfs*4)" "8"
"0000486164" "00017482" "55" "1246" "0" "1246" "0" "c.1246del" "r.(?)" "p.(Leu416*)" "13"
"0000486165" "00017482" "55" "295" "0" "296" "0" "c.295_296dup" "r.(?)" "p.(Trp99Cysfs*13)" "3"
"0000486166" "00017482" "55" "1498" "2" "1498" "3" "c.1498+2_1498+3insN[61]" "r.spl" "p.?" "16i"
"0000486167" "00017482" "55" "862" "-2" "862" "-2" "c.862-2A>G" "r.spl" "p.?" "9i"
"0000486168" "00017482" "55" "1119" "0" "1120" "0" "c.1119_1120del" "r.(?)" "p.(Pro374Serfs*2)" "11"
"0000486169" "00017482" "99" "1283" "0" "1283" "0" "c.1283del" "r.(?)" "p.(Glu428Glyfs*29)" "13"
"0000486170" "00017482" "55" "2515" "0" "2524" "0" "c.2515_2524del" "r.(?)" "p.(Phe839Leufs*7)" "24"
"0000486171" "00017482" "55" "1216" "2" "1216" "2" "c.1216+2dup" "r.spl" "p.?" "12i"
"0000486172" "00017482" "55" "1191" "0" "1191" "0" "c.1191dup" "r.(?)" "p.(Glu398Argfs*8)" "12"
"0000486173" "00017482" "55" "1128" "-1" "1128" "-1" "c.1128-1G>T" "r.spl" "p.?" "11i"
"0000486174" "00017482" "55" "1249" "0" "1249" "0" "c.1249A>T" "r.(?)" "p.(Lys417*)" "13"
"0000486175" "00017482" "55" "312" "0" "312" "0" "c.312del" "r.(?)" "p.(Phe104Leufs*7)" "3"
"0000486176" "00017482" "55" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Ser443*)" "13"
"0000486177" "00017482" "55" "1282" "0" "1282" "0" "c.1282G>T" "r.(?)" "p.(Glu428*)" "13"
"0000486178" "00017482" "55" "1341" "0" "1341" "0" "c.1341del" "r.(?)" "p.(Lys447Asnfs*10)" "14"
"0000486179" "00017482" "55" "1423" "0" "1423" "0" "c.1423A>T" "r.(?)" "p.(Lys475*)" "16"
"0000486180" "00017482" "55" "1356" "0" "1356" "0" "c.1356dup" "r.(?)" "p.(Tyr453Valfs*10)" "14"
"0000486181" "00017482" "55" "1177" "0" "1177" "0" "c.1177del" "r.(?)" "p.(Ser393Valfs*8)" "12"
"0000486182" "00017482" "55" "1498" "1" "1498" "1" "c.1498+1G>C" "r.spl" "p.?" "16i"
"0000486183" "00017482" "55" "1333" "-2" "1333" "-1" "c.1333-2_1333-1delinsT" "r.spl" "p.?" "13i"
"0000486184" "00017482" "55" "2175" "0" "2190" "0" "c.2175_2190del" "r.(?)" "p.(Thr726Phefs*13)" "21"
"0000486185" "00017482" "55" "1390" "-1" "1390" "-1" "c.1390-1G>A" "r.spl" "p.?" "14i"
"0000486186" "00017482" "55" "1450" "0" "1451" "0" "c.1450_1451dup" "r.(?)" "p.(Met484Ilefs*12)" "16"
"0000486187" "00017482" "55" "1963" "0" "1966" "0" "c.1963_1966dup" "r.(?)" "p.(Arg656Leufs*13)" "20"
"0000486188" "00017482" "55" "1654" "0" "1655" "0" "c.1654_1655dup" "r.(?)" "p.(Cys553Aspfs*59)" "17"
"0000486189" "00017482" "55" "1346" "0" "1346" "0" "c.1346G>T" "r.(?)" "p.(Gly449Val)" ""
"0000486190" "00017482" "55" "1544" "0" "1544" "0" "c.1544del" "r.(?)" "p.(Pro515Hisfs*4)" "17"
"0000486191" "00017482" "55" "1177" "0" "1177" "0" "c.1177delinsTT" "r.(?)" "p.(Ser393Leufs*2)" "12"
"0000486192" "00017482" "55" "2106" "1" "2106" "1" "c.2106+1G>C" "r.spl" "p.?" "20i"
"0000486193" "00017482" "55" "1759" "0" "1759" "0" "c.1759G>T" "r.(?)" "p.(Glu587*)" "18"
"0000486194" "00017482" "55" "1882" "0" "1883" "0" "c.1882_1883insAG" "r.(?)" "p.(Ala628Glufs*16)" "19"
"0000486195" "00017482" "55" "1421" "3" "1421" "30" "c.1421+3_1421+30del" "r.spl?" "p.?" "15i"
"0000486196" "00017482" "55" "1778" "0" "1778" "0" "c.1778del" "r.(?)" "p.(Asn593Ilefs*18)" "18"
"0000486197" "00017482" "55" "2046" "0" "2047" "0" "c.2046_2047insT" "r.(?)" "p.(Leu683Serfs*9)" "20"
"0000486198" "00017482" "55" "2077" "0" "2077" "0" "c.2077G>T" "r.(?)" "p.(Glu693*)" "20"
"0000486199" "00017482" "55" "1990" "0" "1991" "0" "c.1990_1991insAACA" "r.(?)" "p.(Thr664Lysfs*5)" "20"
"0000486200" "00017482" "55" "473" "0" "473" "0" "c.473del" "r.(?)" "p.(Leu158Cysfs*17)" "4"
"0000486201" "00017482" "55" "2014" "0" "2014" "0" "c.2014G>T" "r.(?)" "p.(Glu672*)" "20"
"0000486202" "00017482" "55" "1815" "-1" "1815" "-1" "c.1815-1G>C" "r.spl" "p.?" "18i"
"0000486203" "00017482" "55" "207" "0" "207" "0" "c.207T>C" "r.(?)" "p.(=)" "2"
"0000486204" "00017482" "55" "2247" "0" "2247" "0" "c.2247T>G" "r.(?)" "p.(Tyr749*)" "22"
"0000486205" "00017482" "55" "2473" "0" "2473" "0" "c.2473dup" "r.(?)" "p.(Met825AsnfsTer13)" "23i"
"0000486206" "00017482" "55" "575" "0" "576" "0" "c.575_576del" "r.(?)" "p.(Lys192Serfs*10)" "6"
"0000486207" "00017482" "55" "2478" "0" "2486" "0" "c.2478_2486del" "r.(?)" "p.(Pro827_Ser829del)" "23"
"0000486208" "00017482" "55" "2342" "0" "2342" "0" "c.2342del" "r.(?)" "p.(Pro781Glnfs*29)" "23"
"0000486209" "00017482" "55" "2330" "0" "2330" "0" "c.2330dup" "r.(?)" "p.(Thr778Tyrfs*17)" "23"
"0000486210" "00017482" "55" "2339" "0" "2339" "0" "c.2339C>G" "r.(?)" "p.(Ser780*)" "23"
"0000486211" "00017482" "99" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Gln736*)" "21"
"0000486212" "00017482" "99" "2237" "0" "2241" "0" "c.2237_2241dup" "r.(?)" "p.(Glu748Lysfs*8)" "22"
"0000486213" "00017482" "55" "2336" "0" "2336" "0" "c.2336dup" "r.(?)" "p.(Leu779Phefs*16)" "23"
"0000486214" "00017482" "55" "2242" "0" "2245" "0" "c.2242_2245del" "r.(?)" "p.(Glu748Metfs*5)" "22"
"0000486215" "00017482" "55" "2428" "0" "2428" "0" "c.2428A>T" "r.(?)" "p.(Lys810*)" "23"
"0000486216" "00017482" "55" "2509" "0" "2509" "0" "c.2509G>T" "r.(?)" "p.(Glu837*)" "24"
"0000486217" "00017482" "55" "2663" "1" "2663" "1" "c.2663+1G>T" "r.spl" "p.?" "25i"
"0000486218" "00017482" "55" "2590" "0" "2590" "0" "c.2590G>T" "r.(?)" "p.(Glu864*)" "25"
"0000486219" "00017482" "33" "2326" "-79" "2326" "-79" "c.2326-79A>G" "r.(?)" "p.(=)" ""
"0000486220" "00017482" "55" "1540" "0" "1540" "0" "c.1540T>C" "r.(?)" "p.(Phe514Leu)" "17"
"0000486221" "00017482" "55" "2368" "0" "2368" "0" "c.2368del" "r.(?)" "p.(Tyr790Thrfs*20)" "23"
"0000486222" "00017482" "55" "2663" "45" "2663" "45" "c.2663+45C>T" "r.(?)" "p.(=)" "25i"
"0000486223" "00017482" "11" "52" "0" "80" "0" "c.52_80dup" "r.(?)" "p.(Pro28Argfs*47)" "1"
"0000486224" "00017482" "55" "1448" "0" "1448" "0" "c.1448del" "r.(?)" "p.(His483Leufs*12)" "16"
"0000486225" "00017482" "55" "1814" "3" "1814" "3" "c.1814+3A>C" "r.spl?" "p.?" "18i"
"0000486226" "00017482" "55" "1969" "0" "1981" "0" "c.1969_1981delinsT" "r.(?)" "p.(Leu657_Arg661delinsTrp)" "20"
"0000486227" "00017482" "55" "2191" "0" "2191" "0" "c.2191del" "r.(?)" "p.(Leu731Phefs*13)" "21"
"0000486228" "00017482" "55" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Asn290Metfs*11)" "9"
"0000486229" "00017482" "55" "1306" "0" "1306" "0" "c.1306C>A" "r.(?)" "p.(Gln436Lys)" "13"
"0000486230" "00017482" "55" "1338" "0" "1338" "0" "c.1338C>G" "r.(?)" "p.(Tyr446*)" "14"
"0000486231" "00017482" "55" "2326" "-45" "2326" "-45" "c.2326-45A>G" "r.(?)" "p.(=)" "22i"
"0000486232" "00017482" "55" "1435" "0" "1435" "0" "c.1435del" "r.(?)" "p.(Asp479Thrfs*16)" "16"
"0000486233" "00017482" "55" "1632" "0" "1632" "0" "c.1632A>G" "r.(?)" "p.(=)" "17"
"0000486234" "00017482" "55" "2326" "-27" "2326" "-27" "c.2326-27T>C" "r.(?)" "p.(=)" "22i"
"0000486235" "00017482" "55" "422" "0" "423" "0" "c.422_423del" "r.(?)" "p.(Ser141Asnfs*4)" "4"
"0000486236" "00017482" "55" "1722" "0" "1722" "0" "c.1722dup" "r.(?)" "p.(Gln575Thrfs*10)" "18"
"0000486237" "00017482" "55" "179" "0" "179" "0" "c.179dup" "r.(?)" "p.(Leu60Phefs*50)" "2"
"0000486238" "00017482" "55" "298" "0" "298" "0" "c.298G>T" "r.(?)" "p.(Gly100*)" "3"
"0000486239" "00017482" "55" "2106" "2" "2106" "2" "c.2106+2T>G" "r.spl" "p.?" "20i"
"0000486240" "00017482" "55" "863" "0" "864" "0" "c.863_864insA" "r.(?)" "p.(Lys289Glufs*21)" "9"
"0000486241" "00017482" "55" "137" "2" "137" "2" "c.137+2G>A" "r.(?)" "p.(=)" "1i"
"0000486242" "00017482" "55" "2212" "-1" "2212" "0" "c.2212-1_2212del" "r.spl" "p.?" "21i"
"0000486243" "00017482" "55" "2330" "0" "2331" "0" "c.2330_2331del" "r.(?)" "p.(Pro777Hisfs*17)" "23"
"0000486244" "00017482" "55" "1961" "0" "2106" "0" "c.1961_2106del" "r.(?)" "p.(Val654Aspfs*18)" "20"
"0000486245" "00017482" "55" "2346" "0" "2346" "0" "c.2346del" "r.(?)" "p.(Pro783Leufs*27)" "22"
"0000486246" "00017482" "55" "2162" "0" "2162" "0" "c.2162dup" "r.(?)" "p.(Lys722Glnfs*29)" "21"
"0000486247" "00017482" "55" "2283" "0" "2283" "0" "c.2283del" "r.(?)" "p.(Met761Ilefs*4)" "22"
"0000486248" "00017482" "55" "2369" "0" "2370" "0" "c.2369_2370insT" "r.(?)" "p.(Lys791Glnfs*4)" "23"
"0000486249" "00017482" "55" "2390" "0" "2406" "0" "c.2390_2406del" "r.(?)" "p.(Leu797*)" "23"
"0000486250" "00017482" "55" "2495" "0" "2495" "0" "c.2495del" "r.(?)" "p.(Leu832*)" "24"
"0000486251" "00017482" "55" "2490" "0" "2520" "0" "c.2490_2520del" "r.(?)" "p.(Ile831Leufs*8)" "24i"
"0000486252" "00017482" "55" "2569" "0" "2569" "0" "c.2569dup" "r.(?)" "p.(Arg857Profs*8)" "25"
"0000486253" "00017482" "55" "719" "0" "724" "0" "c.719_724del" "r.(?)" "p.(Lys240_Ala242delinsThr)" "8"
"0000486254" "00017482" "55" "1163" "0" "1163" "0" "c.1163T>G" "r.(?)" "p.(Ile388Ser)" "12"
"0000486255" "00017482" "55" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Ala392Thr)" "12"
"0000486256" "00017482" "55" "1416" "0" "1417" "0" "c.1416_1417insAAA" "r.(?)" "p.(Asn472_Phe473insLys)" "15"
"0000486257" "00017482" "55" "1707" "0" "1707" "0" "c.1707A>T" "r.(?)" "p.(Leu569Phe)" "18"
"0000486258" "00017482" "55" "2135" "0" "2182" "0" "c.2135_2182del" "r.(?)" "p.(Cys712_Ala727del)" "21"
"0000486259" "00017482" "55" "2183" "0" "2183" "0" "c.2183A>G" "r.(?)" "p.(Tyr728Cys)" "21"
"0000486260" "00017482" "55" "2261" "0" "2261" "0" "c.2261T>G" "r.(?)" "p.(Val754Gly)" "22"
"0000486261" "00017482" "55" "2566" "0" "2566" "0" "c.2566G>A" "r.(?)" "p.(Asp856Asn)" "25"
"0000486262" "00017482" "55" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Arg876Cys)" "25"
"0000486263" "00017482" "55" "2687" "0" "2689" "0" "c.2687_2689del" "r.(?)" "p.(Lys896_Phe897delinsIle)" "26"
"0000486264" "00017482" "55" "1696" "-7" "1696" "-7" "c.1696-7C>T" "r.(?)" "p.(=)" "17i"
"0000486265" "00017482" "55" "1696" "-4" "1696" "-4" "c.1696-4A>G" "r.spl?" "p.?" "17i"
"0000486266" "00017482" "55" "2520" "4" "2520" "4" "c.2520+4dup" "r.spl?" "p.?" "24i"
"0000486267" "00017482" "55" "177" "0" "177" "0" "c.177A>T" "r.(?)" "p.(=)" "2"
"0000486268" "00017482" "55" "1173" "0" "1173" "0" "c.1173A>T" "r.(?)" "p.(=)" "12"
"0000486269" "00017482" "55" "2061" "0" "2061" "0" "c.2061C>T" "r.(?)" "p.(=)" "20"
"0000486270" "00017482" "55" "2517" "0" "2517" "0" "c.2517C>T" "r.(?)" "p.(=)" "24"
"0000486271" "00017482" "55" "138" "-37" "138" "-32" "c.138-37_138-32del" "r.(?)" "p.(=)" "1i"
"0000486272" "00017482" "55" "264" "50" "264" "50" "c.264+50dup" "r.(?)" "p.(=)" "2i"
"0000486273" "00017482" "55" "381" "-83" "381" "-83" "c.381-83del" "r.(?)" "p.(=)" "3i"
"0000486274" "00017482" "55" "381" "-77" "381" "-77" "c.381-77del" "r.(?)" "p.(=)" "3i"
"0000486275" "00017482" "55" "500" "82" "500" "82" "c.500+82A>G" "r.(?)" "p.(=)" "4i"
"0000486276" "00017482" "55" "501" "-100" "501" "-100" "c.501-100del" "r.(?)" "p.(=)" "4i"
"0000486277" "00017482" "55" "540" "-99" "540" "-99" "c.540-99T>A" "r.(?)" "p.(=)" "5i"
"0000486278" "00017482" "55" "540" "-97" "540" "-96" "c.540-97_540-96insT" "r.(?)" "p.(=)" "5i"
"0000486279" "00017482" "55" "540" "-35" "540" "-35" "c.540-35dup" "r.(?)" "p.(=)" "5i"
"0000486280" "00017482" "55" "607" "20" "607" "20" "c.607+20del" "r.(?)" "p.(=)" "6i"
"0000486281" "00017482" "55" "607" "34" "607" "34" "c.607+34del" "r.(?)" "p.(=)" "6i"
"0000486282" "00017482" "55" "608" "-91" "608" "-91" "c.608-91T>C" "r.(?)" "p.(=)" "6i"
"0000486283" "00017482" "55" "608" "-19" "608" "-19" "c.608-19del" "r.(?)" "p.(=)" "6i"
"0000486284" "00017482" "55" "1128" "-29" "1128" "-29" "c.1128-29del" "r.(?)" "p.(=)" "11i"
"0000486285" "00017482" "55" "1216" "-29" "1216" "-29" "c.1216-29A>G" "r.(?)" "p.(=)" "12i"
"0000486286" "00017482" "55" "1421" "9" "1421" "9" "c.1421+9T>C" "r.(?)" "p.(=)" "15i"
"0000486287" "00017482" "55" "1815" "-10" "1815" "-10" "c.1815-10del" "r.(?)" "p.(=)" "18i"
"0000486288" "00017482" "55" "2212" "-16" "2212" "-16" "c.2212-16dup" "r.(?)" "p.(=)" "21i"
"0000486289" "00017482" "55" "2212" "-27" "2212" "-16" "c.2212-27_2212-16del" "r.(?)" "p.(=)" "21i"
"0000486290" "00017482" "55" "2212" "-14" "2212" "-14" "c.2212-14C>T" "r.(?)" "p.(=)" "21i"
"0000486291" "00017482" "55" "2714" "-18" "2714" "-18" "c.2714-18T>C" "r.(?)" "p.(=)" "26i"
"0000486292" "00017482" "55" "473" "0" "473" "0" "c.473T>A" "r.(?)" "p.(Leu158*)" "4"
"0000486293" "00017482" "55" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Glu166*)" "4"
"0000486294" "00017482" "55" "2107" "0" "2211" "0" "c.2107_2211del" "r.(?)" "p.(Ile703_Glu737del)" "21"
"0000486295" "00017482" "55" "2212" "0" "2325" "0" "c.2212_2325del" "r.(?)" "p.(Thr738_Arg775del)" "22"
"0000486296" "00017482" "99" "1382" "0" "1382" "0" "c.1382T>C" "r.(?)" "p.(Leu461Pro)" "14"
"0000486297" "00017482" "99" "1961" "-1" "1961" "-1" "c.1961-1G>C" "r.spl" "p.?" "19i"
"0000486298" "00017482" "99" "1050" "-3" "1050" "-1" "c.1050-3_1050-1delinsAA" "r.spl" "p.?" "10i"
"0000486299" "00017482" "55" "291" "0" "291" "0" "c.291A>G" "r.(?)" "p.(=)" "3"
"0000486300" "00017482" "55" "-288" "0" "-288" "0" "c.-288C>T" "r.(=)" "p.(=)" "_1"
"0000486301" "00017482" "77" "1949" "0" "1949" "0" "c.1949T>A" "r.(?)" "p.(Phe650Tyr)" ""
"0000486302" "00017482" "99" "1735" "0" "1735" "0" "c.1735dup" "r.(?)" "p.(Arg579Profs*6)" ""
"0000486303" "00017482" "99" "54" "0" "76" "0" "c.54_76del" "r.(?)" "p.(Glu19Alafs*4)" "1"
"0000486304" "00017482" "99" "2043" "0" "2043" "0" "c.2043G>A" "r.(?)" "p.(Trp681*)" "20"
"0000486305" "00017482" "99" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Leu134*)" "4"
"0000486306" "00017482" "99" "1731" "0" "1732" "0" "c.1731_1732delinsT" "r.(?)" "p.(Lys577Asnfs*34)" "18"
"0000486307" "00017482" "99" "1979" "0" "1981" "0" "c.1979_1981dup" "r.(?)" "p.(Leu660dup)" "20"
"0000486308" "00017482" "99" "1764" "0" "1764" "0" "c.1764del" "r.(?)" "p.(Ala589Leufs*22)" "18"
"0000486309" "00017482" "55" "2100" "0" "2101" "0" "c.2100_2101insT" "r.(?)" "p.(Asp701*)" "20"
"0000486310" "00017482" "99" "1943" "0" "1943" "0" "c.1943C>A" "r.(?)" "p.(Ser648*)" "19"
"0000486311" "00017482" "99" "732" "0" "733" "0" "c.732_733del" "r.(?)" "p.(Pro245Hisfs*2)" "8"
"0000486312" "00017482" "99" "2095" "0" "2095" "0" "c.2095del" "r.(?)" "p.(His699Ilefs*6)" "20"
"0000486313" "00017482" "99" "1400" "0" "1402" "0" "c.1400_1402dup" "r.(?)" "p.(Leu468*)" "15"
"0000486314" "00017482" "99" "2489" "2" "2489" "2" "c.2489+2T>A" "r.spl" "p.?" "23i"
"0000486315" "00017482" "99" "2057" "0" "2080" "0" "c.2057_2080del" "r.(?)" "p.(His686_Glu693del)" "20"
"0000486316" "00017482" "99" "1693" "0" "1694" "0" "c.1693_1694dup" "r.(?)" "p.(Asp566Glnfs*46)" ""
"0000486317" "00017482" "33" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.Ala626Thr" ""
"0000486318" "00017482" "33" "1815" "-5" "1815" "-5" "c.1815-5T>C" "r.(?)" "p.(=)" ""
"0000486319" "00017482" "55" "861" "0" "861" "0" "c.861G>T" "r.(?)" "p.(Glu287Asp)" "8"
"0000486320" "00017482" "55" "2663" "0" "2663" "0" "c.2663G>A" "r.(?)" "p.(Ser888Asn)" "25"
"0000486321" "00017482" "55" "-198" "0" "-198" "0" "c.-198G>T" "r.(=)" "p.(=)" "_1"
"0000486322" "00017482" "55" "861" "0" "861" "0" "c.861G>A" "r.spl?" "p.(Glu287=)" "8"
"0000486323" "00017482" "55" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Ser485Phe)" "16"
"0000486324" "00017482" "55" "1685" "0" "1685" "0" "c.1685C>A" "r.(?)" "p.(Ala562Glu)" "17"
"0000486325" "00017482" "55" "1689" "0" "1689" "0" "c.1689G>C" "r.(?)" "p.(Trp563Cys)" "17"
"0000486326" "00017482" "55" "719" "-5" "719" "-2" "c.719-5_719-2delinsN[18]" "r.spl" "p.?" "7i"
"0000486327" "00017482" "55" "1050" "-3" "1050" "-3" "c.1050-3del" "r.spl?" "p.?" "10i"
"0000486328" "00017482" "55" "1214" "0" "1215" "8" "c.1214_1215+8del" "r.spl" "p.?" "12"
"0000486329" "00017482" "55" "1215" "63" "1215" "63" "c.1215+63T>G" "r.spl" "p.(=)" "12i"
"0000486330" "00017482" "55" "1333" "-23" "1333" "-13" "c.1333-23_1333-13del" "r.spl" "p.(=)" "13i"
"0000486331" "00017482" "55" "1696" "-2" "1696" "-2" "c.1696-2A>G" "r.spl" "p.?" "17i"
"0000486332" "00017482" "55" "1792" "0" "1814" "5" "c.1792_1814+5del" "r.spl" "p.?" "18"
"0000486333" "00017482" "55" "658" "0" "664" "0" "c.658_664del" "r.(?)" "p.(Leu220Serfs*42)" "7"
"0000486334" "00017482" "55" "660" "0" "661" "0" "c.660_661del" "r.(?)" "p.(Val222Profs*2)" "7"
"0000486335" "00017482" "55" "1389" "1" "1389" "1" "c.1389+1G>T" "r.spl" "p.?" "14i"
"0000486336" "00017482" "55" "1421" "18" "1421" "32" "c.1421+18_1421+32del" "r.spl" "p.(=)" "15i"
"0000486337" "00017482" "55" "1421" "18" "1421" "33" "c.1421+18_1421+33del" "r.spl" "p.(=)" "15i"
"0000486338" "00017482" "55" "1498" "1" "1498" "1" "c.1498+1G>T" "r.spl" "p.?" "16i"
"0000486339" "00017482" "55" "1498" "3" "1498" "3" "c.1498+3A>T" "r.spl?" "p.?" "16i"
"0000486340" "00017482" "55" "1960" "1" "1960" "6" "c.1960+1_1960+6delinsN[22]" "r.spl" "p.?" "19i"
"0000486341" "00017482" "55" "1960" "1" "1960" "1" "c.1960+1G>T" "r.spl" "p.?" "19i"
"0000486342" "00017482" "55" "1961" "-3" "1961" "-3" "c.1961-3C>G" "r.spl?" "p.?" "19i"
"0000486343" "00017482" "55" "2107" "-1" "2107" "-1" "c.2107-1G>C" "r.spl" "p.?" "20i"
"0000486344" "00017482" "55" "2116" "0" "2128" "0" "c.2116_2128del" "r.(?)" "p.(Cys706Alafs*5)" "21"
"0000486345" "00017482" "55" "2317" "0" "2317" "0" "c.2317del" "r.(?)" "p.(Ser773Profs*37)" "22"
"0000486346" "00017482" "55" "2325" "2" "2325" "2" "c.2325+2T>G" "r.spl" "p.?" "22i"
"0000486347" "00017482" "55" "2325" "5" "2325" "5" "c.2325+5G>A" "r.spl?" "p.?" "22i"
"0000486348" "00017482" "55" "2408" "0" "2408" "0" "c.2408dup" "r.(?)" "p.(Asn803Lysfs*12)" "23"
"0000486349" "00017482" "55" "2435" "0" "2435" "0" "c.2435del" "r.(?)" "p.(Pro812Hisfs*14)" "23"
"0000486350" "00017482" "55" "2476" "0" "2489" "5" "c.2476_2489+5del" "r.spl" "p.?" "23"
"0000486351" "00017482" "55" "2490" "-1" "2490" "-1" "c.2490-1G>A" "r.spl" "p.?" "23i"
"0000486352" "00017482" "55" "1961" "0" "2003" "0" "c.1961_2003dup" "r.(?)" "p.(Leu669Valfs*13)" "20"
"0000486353" "00017482" "55" "1968" "0" "1968" "0" "c.1968dup" "r.(?)" "p.(Leu657Alafs*11)" "20"
"0000486354" "00017482" "55" "2029" "0" "2029" "0" "c.2029G>T" "r.(?)" "p.(Glu677*)" "20"
"0000486355" "00017482" "55" "2031" "0" "2031" "0" "c.2031dup" "r.(?)" "p.(His678Thrfs*14)" "20"
"0000486356" "00017482" "55" "2077" "0" "2080" "0" "c.2077_2080dup" "r.(?)" "p.(Leu694Argfs*28)" "20"
"0000486357" "00017482" "55" "719" "0" "720" "0" "c.719_720insTA" "r.(?)" "p.(Lys240Asnfs*25)" "7"
"0000486358" "00017482" "55" "731" "0" "734" "0" "c.731_734delinsGG" "r.(?)" "p.(Ile244Argfs*3)" "8"
"0000486359" "00017482" "55" "983" "0" "983" "0" "c.983dup" "r.(?)" "p.(Asn328Lysfs*2)" "10"
"0000486360" "00017482" "55" "1010" "0" "1010" "0" "c.1010dup" "r.(?)" "p.(Leu337Phefs*4)" "10"
"0000486361" "00017482" "55" "1061" "0" "1061" "0" "c.1061dup" "r.(?)" "p.(Arg355Glufs*7)" "11"
"0000486362" "00017482" "55" "1079" "0" "1079" "0" "c.1079del" "r.(?)" "p.(Ser360Ilefs*7)" "11"
"0000486363" "00017482" "55" "1135" "0" "1135" "0" "c.1135dup" "r.(?)" "p.(Met379Asnfs*16)" "12"
"0000486364" "00017482" "55" "1165" "0" "1171" "0" "c.1165_1171dup" "r.(?)" "p.(Ser391Phefs*6)" "12"
"0000486365" "00017482" "55" "1272" "0" "1281" "0" "c.1272_1281dup" "r.(?)" "p.(Glu428Hisfs*3)" "13"
"0000486366" "00017482" "55" "1315" "0" "1316" "0" "c.1315_1316del" "r.(?)" "p.(Val439Argfs*23)" "13"
"0000486367" "00017482" "55" "1395" "0" "1395" "0" "c.1395del" "r.(?)" "p.(Glu466Asnfs*12)" "15"
"0000486368" "00017482" "55" "1399" "0" "1401" "0" "c.1399_1401delinsT" "r.(?)" "p.(Arg467Phefs*7)" "15"
"0000486369" "00017482" "55" "1415" "0" "1415" "0" "c.1415del" "r.(?)" "p.(Asn472Ilefs*6)" "15"
"0000486370" "00017482" "55" "1748" "0" "1748" "0" "c.1748del" "r.(?)" "p.(Thr583Metfs*28)" "18"
"0000486371" "00017482" "55" "1891" "0" "1891" "0" "c.1891del" "r.(?)" "p.(Gln631Lysfs*12)" "19"
"0000486372" "00017482" "55" "1940" "0" "1943" "0" "c.1940_1943del" "r.(?)" "p.(Leu647Hisfs*10)" "19"
"0000486373" "00017482" "55" "1948" "0" "1951" "0" "c.1948_1951del" "r.(?)" "p.(Phe650Ilefs*7)" "19"
"0000486374" "00017482" "55" "2125" "0" "2128" "0" "c.2125_2128delinsN[11]" "r.(?)" "p.?" ""
"0000486375" "00017482" "55" "675" "0" "675" "0" "c.675T>G" "r.(?)" "p.(Tyr225*)" "7"
"0000486376" "00017482" "55" "689" "0" "689" "0" "c.689C>G" "r.(?)" "p.(Ser230*)" "7"
"0000486377" "00017482" "55" "828" "0" "847" "0" "c.828_847del" "r.(?)" "p.(Leu277*)" "8"
"0000486378" "00017482" "55" "833" "0" "834" "0" "c.833_834del" "r.(?)" "p.(Cys278*)" "8"
"0000486379" "00017482" "55" "865" "0" "865" "0" "c.865A>T" "r.(?)" "p.(Lys289*)" "9"
"0000486380" "00017482" "55" "896" "0" "909" "0" "c.896_909del" "r.(?)" "p.(Phe299Trpfs*6)" "9"
"0000486381" "00017482" "55" "972" "0" "975" "0" "c.972_975del" "r.(?)" "p.(Tyr325Leufs*6)" "10"
"0000486382" "00017482" "55" "1054" "0" "1054" "0" "c.1054G>T" "r.(?)" "p.(Glu352*)" "11"
"0000486383" "00017482" "55" "1166" "0" "1166" "0" "c.1166del" "r.(?)" "p.(Leu389*)" "12"
"0000486384" "00017482" "55" "1494" "0" "1494" "0" "c.1494del" "r.(?)" "p.(Tyr498*)" "16"
"0000486385" "00017482" "55" "1817" "0" "1817" "0" "c.1817dup" "r.(?)" "p.(Tyr606*)" "19"
"0000486386" "00017482" "55" "2162" "0" "2180" "0" "c.2162_2180delinsN[7]" "r.(?)" "p.?" ""
"0000486387" "00017482" "55" "2247" "0" "2247" "0" "c.2247T>A" "r.(?)" "p.(Tyr749*)" "22"
"0000486388" "00017482" "55" "2336" "0" "2336" "0" "c.2336T>A" "r.(?)" "p.(Leu779*)" "23"
"0000486389" "00017482" "55" "2370" "0" "2370" "0" "c.2370del" "r.(?)" "p.(Tyr790*)" "23"
"0000486390" "00017482" "55" "2377" "0" "2378" "0" "c.2377_2378del" "r.(?)" "p.(Pro793*)" "23"
"0000486391" "00017482" "55" "2420" "0" "2420" "0" "c.2420C>A" "r.(?)" "p.(Ser807*)" "23"
"0000486392" "00017482" "55" "2473" "0" "2473" "0" "c.2473del" "r.(?)" "p.(Met825*)" "23"
"0000486393" "00017482" "99" "1281" "0" "1281" "0" "c.1281del" "r.(?)" "p.(Glu428Argfs*29)" "13"
"0000486394" "00017482" "77" "381" "-39" "381" "-2" "c.381-39_381-2del" "r.spl" "p.?" "3i"
"0000486395" "00017482" "99" "610" "0" "610" "0" "c.610G>T" "r.(?)" "p.(Glu204*)" "7"
"0000486396" "00017482" "99" "1663" "0" "1670" "0" "c.1663_1670delinsTTC" "r.(?)" "p.(His555Phefs*15)" "17"
"0000486397" "00017482" "99" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "22i"
"0000486398" "00017482" "55" "179" "0" "179" "0" "c.179T>A" "r.(?)" "p.(Leu60*)" "2"
"0000486399" "00017482" "55" "142" "0" "170" "0" "c.142_170del" "r.(?)" "p.(Glu48Tyrfs*52)" "2"
"0000486400" "00017482" "77" "2252" "0" "2256" "0" "c.2252_2256del" "r.(?)" "p.(Ser751Tyrfs*5)" "22"
"0000486401" "00017482" "99" "474" "0" "474" "0" "c.474delinsTT" "r.(?)" "p.(Leu158Phefs*13)" "4"
"0000486402" "00017482" "99" "14" "0" "24" "0" "c.14_24del" "r.(?)" "p.(Thr5Asnfs*22)" "1"
"0000486403" "00017482" "55" "46" "0" "65" "0" "c.46_65dup" "r.(?)" "p.(Pro25Argfs*47)" "1"
"0000486404" "00017482" "55" "62" "0" "62" "0" "c.62dup" "r.(?)" "p.(Ala22Glyfs*9)" "1"
"0000486405" "00017482" "55" "171" "0" "171" "0" "c.171dup" "r.(?)" "p.(Thr58Tyrfs*52)" "2"
"0000486406" "00017482" "55" "174" "0" "175" "0" "c.174_175del" "r.(?)" "p.(Ala59Ilefs*50)" "2"
"0000486407" "00017482" "55" "687" "0" "687" "0" "c.687del" "r.(?)" "p.(Ser230Hisfs*34)" "7"
"0000486408" "00017482" "55" "709" "0" "709" "0" "c.709del" "r.(?)" "p.(Glu237Asnfs*27)" "7"
"0000486409" "00017482" "55" "719" "-3" "719" "-3" "c.719-3C>G" "r.spl?" "p.?" "7i"
"0000486410" "00017482" "55" "735" "0" "744" "0" "c.735_744delinsTGTCGACCC" "r.(?)" "p.(Ile246Valfs*18)" "8"
"0000486411" "00017482" "55" "862" "-5" "862" "-5" "c.862-5T>G" "r.spl?" "p.?" "8i"
"0000486412" "00017482" "55" "862" "-2" "862" "-2" "c.862-2del" "r.spl" "p.?" "8i"
"0000486413" "00017482" "55" "907" "0" "908" "0" "c.907_908del" "r.(?)" "p.(Leu303Trpfs*6)" "9"
"0000486414" "00017482" "55" "940" "-2" "940" "-2" "c.940-2A>C" "r.spl" "p.?" "9i"
"0000486415" "00017482" "55" "1078" "0" "1082" "0" "c.1078_1082dup" "r.(?)" "p.(Asn361Lysfs*8)" "11"
"0000486416" "00017482" "55" "1149" "0" "1149" "0" "c.1149dup" "r.(?)" "p.(Gln384Thrfs*11)" "12"
"0000486417" "00017482" "55" "1215" "4" "1215" "4" "c.1215+4del" "r.spl?" "p.?" "12i"
"0000486418" "00017482" "55" "1389" "5" "1389" "5" "c.1389+5G>T" "r.spl?" "p.?" "14i"
"0000486419" "00017482" "55" "1398" "0" "1398" "0" "c.1398del" "r.(?)" "p.(Glu466Aspfs*12)" "15"
"0000486420" "00017482" "55" "1412" "0" "1421" "14" "c.1412_1421+14del" "r.spl" "p.?" "14"
"0000486421" "00017482" "55" "1454" "0" "1457" "0" "c.1454_1457del" "r.(?)" "p.(Ser485Tyrfs*9)" "16"
"0000486422" "00017482" "55" "1683" "0" "1683" "0" "c.1683dup" "r.(?)" "p.(Ala562Cysfs*10)" "17"
"0000486423" "00017482" "55" "1707" "0" "1710" "0" "c.1707_1710del" "r.(?)" "p.(Phe570Ilefs*40)" "18"
"0000486424" "00017482" "55" "1746" "0" "1749" "0" "c.1746_1749dup" "r.(?)" "p.(Asp584Asnfs*2)" "18"
"0000486425" "00017482" "55" "1752" "0" "1753" "0" "c.1752_1753insGGTTTCA" "r.(?)" "p.(His585Glyfs*5)" "18"
"0000486426" "00017482" "55" "1770" "0" "1770" "0" "c.1770T>A" "r.(?)" "p.(Cys590*)" "18"
"0000486427" "00017482" "55" "1960" "2" "1960" "2" "c.1960+2T>G" "r.spl" "p.?" "19i"
"0000486428" "00017482" "55" "2037" "0" "2106" "1" "c.2037_2106+1del" "r.spl" "p.?" "20"
"0000486429" "00017482" "55" "2055" "0" "2056" "0" "c.2055_2056del" "r.(?)" "p.(Thr687Profs*4)" "20"
"0000486430" "00017482" "55" "2106" "1" "2106" "1" "c.2106+1del" "r.spl" "p.?" "20i"
"0000486431" "00017482" "55" "2211" "5" "2211" "5" "c.2211+5G>C" "r.spl?" "p.?" "21i"
"0000486432" "00017482" "55" "2239" "0" "2239" "0" "c.2239dup" "r.(?)" "p.(Glu747Glyfs*4)" "22"
"0000486433" "00017482" "55" "2240" "0" "2241" "0" "c.2240_2241del" "r.(?)" "p.(Glu747Glyfs*3)" "22"
"0000486434" "00017482" "55" "2313" "0" "2313" "0" "c.2313del" "r.(?)" "p.(Tyr771*)" "22"
"0000486435" "00017482" "55" "2416" "0" "2416" "0" "c.2416dup" "r.(?)" "p.(Ile806Asnfs*9)" "23"
"0000486436" "00017482" "55" "2439" "0" "2439" "0" "c.2439dup" "r.(?)" "p.(Lys814*)" "23"
"0000486437" "00017482" "55" "2465" "0" "2465" "0" "c.2465dup" "r.(?)" "p.(Thr823Asnfs*15)" "23"
"0000486438" "00017482" "55" "2490" "-2" "2490" "-2" "c.2490-2A>G" "r.spl" "p.?" "23i"
"0000486439" "00017482" "55" "2496" "0" "2497" "0" "c.2496_2497del" "r.(?)" "p.(Leu832Phefs*5)" "24"
"0000486440" "00017482" "55" "2520" "4" "2520" "4" "c.2520+4A>G" "r.spl?" "p.?" "24i"
"0000486441" "00017482" "55" "2520" "6" "2520" "6" "c.2520+6T>C" "r.spl?" "p.(=)" "24i"
"0000486442" "00017482" "55" "2527" "0" "2527" "0" "c.2527G>T" "r.(?)" "p.(Glu843*)" "25"
"0000486443" "00017482" "55" "1943" "0" "1943" "0" "c.1943del" "r.(?)" "p.(Ser648Tyrfs*10)" "19"
"0000486444" "00017482" "99" "1248" "0" "1251" "0" "c.1248_1251delinsTC" "r.(?)" "p.(Lys417Glnfs*10)" "13"
"0000486445" "00017482" "55" "596" "0" "596" "0" "c.596T>G" "r.(?)" "p.(Leu199*)" "9"
"0000486446" "00017482" "55" "1301" "0" "1302" "0" "c.1301_1302dup" "r.(?)" "p.(Gly435Trpfs*23)" "13"
"0000486447" "00017482" "55" "1646" "0" "1646" "0" "c.1646dup" "r.(?)" "p.(His549Glnfs*6)" "17"
"0000486448" "00017482" "55" "1498" "5" "1498" "5" "c.1498+5del" "r.spl?" "p.?" "16i"
"0000486449" "00017482" "55" "2211" "2" "2211" "2" "c.2211+2dup" "r.spl" "p.?" "21i"
"0000486450" "00017482" "55" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Pro808Ser)" "23"
"0000486451" "00017482" "55" "2083" "0" "2084" "0" "c.2083_2084del" "r.(?)" "p.(Met695Glufs*25)" "20"
"0000486452" "00017482" "55" "1821" "0" "1822" "0" "c.1821_1822del" "r.(?)" "p.(Pro609Cysfs*43)" "19"
"0000486453" "00017482" "55" "2231" "0" "2231" "0" "c.2231T>C" "r.(?)" "p.(Ile744Thr)" "22"
"0000486454" "00017482" "55" "40" "0" "40" "0" "c.40dup" "r.(?)" "p.(Ala14Glyfs*17)" "1"
"0000486455" "00017482" "55" "45" "0" "79" "0" "c.45_79dup" "r.(?)" "p.(Pro27Leufs*50)" "1"
"0000486456" "00017482" "55" "45" "0" "73" "0" "c.45_73del" "r.(?)" "p.(Ala18Profs*3)" "1"
"0000486457" "00017482" "55" "54" "0" "76" "0" "c.54_76dup" "r.(?)" "p.(Pro26Argfs*47)" "1"
"0000486458" "00017482" "55" "123" "0" "136" "0" "c.123_136delinsGCC" "r.(?)" "p.(Asp41Glufs*4)" "1"
"0000486459" "00017482" "55" "178" "0" "185" "0" "c.178_185del" "r.(?)" "p.(Leu60Glufs*47)" "2"
"0000486460" "00017482" "55" "187" "0" "190" "0" "c.187_190dup" "r.(?)" "p.(Leu64*)" "2"
"0000486461" "00017482" "55" "200" "0" "200" "0" "c.200del" "r.(?)" "p.(Pro67Glnfs*10)" "2"
"0000486462" "00017482" "55" "220" "0" "221" "0" "c.220_221dup" "r.(?)" "p.(Trp75Leufs*3)" "2"
"0000486463" "00017482" "55" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(Lys80Serfs*29)" "2"
"0000486464" "00017482" "55" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Ser83Leufs*28)" "2"
"0000486465" "00017482" "55" "253" "0" "253" "0" "c.253del" "r.(?)" "p.(Asp85Metfs*26)" "2"
"0000486466" "00017482" "55" "331" "0" "332" "0" "c.331_332del" "r.(?)" "p.(Asp111*)" "3"
"0000486467" "00017482" "55" "352" "0" "352" "0" "c.352del" "r.(?)" "p.(Thr118Leufs*7)" "3"
"0000486468" "00017482" "55" "386" "0" "388" "0" "c.386_388delinsTT" "r.(?)" "p.(His129Leufs*7)" "4"
"0000486469" "00017482" "55" "405" "0" "446" "0" "c.405_446delinsGTTA" "r.(?)" "p.(Lys136Leufs*8)" "4"
"0000486470" "00017482" "55" "532" "0" "535" "0" "c.532_535dup" "r.(?)" "p.(Ser179Lysfs*7)" "5"
"0000486471" "00017482" "55" "564" "0" "571" "0" "c.564_571del" "r.(?)" "p.(Leu189Lysfs*11)" "6"
"0000486472" "00017482" "55" "577" "0" "577" "0" "c.577del" "r.(?)" "p.(Val193Phefs*8)" "6"
"0000486474" "00017482" "55" "963" "0" "963" "0" "c.963C>G" "r.(?)" "p.(Tyr321*)" "10"
"0000486475" "00017482" "55" "2501" "0" "2501" "0" "c.2501C>A" "r.(?)" "p.(Ser834*)" "24"
"0000486476" "00017482" "55" "1947" "0" "1947" "0" "c.1947del" "r.(?)" "p.(Tyr651Ilefs*7)" "19"
"0000486477" "00017482" "55" "2403" "0" "2403" "0" "c.2403del" "r.(?)" "p.(Asn803Thrfs*7)" "23"
"0000486478" "00017482" "55" "584" "0" "584" "0" "c.584G>T" "r.(?)" "p.(Trp195Leu)" "6"
"0000486479" "00017482" "55" "1468" "0" "1468" "0" "c.1468G>A" "r.(?)" "p.(Ala490Thr)" "16"
"0000486480" "00017482" "55" "2455" "0" "2455" "0" "c.2455C>G" "r.(?)" "p.(Leu819Val)" "23"
"0000486481" "00017482" "55" "579" "0" "587" "0" "c.579_587delinsA" "r.(?)" "p.(Ser194Hisfs*6)" "6"
"0000486482" "00017482" "55" "713" "0" "713" "0" "c.713del" "r.(?)" "p.(Pro238Hisfs*26)" "7"
"0000486483" "00017482" "55" "721" "0" "725" "0" "c.721_725dup" "r.(?)" "p.(Val243Glnfs*23)" "8"
"0000486484" "00017482" "55" "730" "0" "730" "0" "c.730dup" "r.(?)" "p.(Ile244Asnfs*4)" "8"
"0000486485" "00017482" "55" "774" "0" "780" "0" "c.774_780dup" "r.(?)" "p.(Ala261Glnfs*12)" "8"
"0000486486" "00017482" "99" "1659" "0" "1660" "0" "c.1659_1660del" "r.(?)" "p.(Cys553*)" ""
"0000486487" "00017482" "99" "2167" "0" "2167" "0" "c.2167dup" "r.(?)" "p.(Ile723Asnfs*28)" ""
"0000486488" "00017482" "99" "265" "-9" "265" "-9" "c.265-9T>A" "r.264_265insTTCCCAG" "p.(=)" "2i"
"0000486489" "00017482" "77" "2489" "0" "2489" "0" "c.2489G>T" "r.spl" "p.(Arg830Ile)" ""
"0000486490" "00017482" "33" "1091" "0" "1091" "0" "c.1091A>C" "r.(?)" "p.(Glu364Ala)" ""
"0000486491" "00017482" "55" "832" "0" "832" "0" "c.832del" "r.(?)" "p.(Cys278Valfs*8)" "8"
"0000486492" "00017482" "55" "916" "0" "922" "0" "c.916_922del" "r.(?)" "p.(Val306Leufs*24)" "9"
"0000486493" "00017482" "55" "958" "0" "958" "0" "c.958del" "r.(?)" "p.(Arg320Aspfs*12)" "10"
"0000486494" "00017482" "55" "1000" "0" "1000" "0" "c.1000del" "r.(?)" "p.(Arg334Aspfs*15)" "10"
"0000486495" "00017482" "55" "1189" "0" "1189" "0" "c.1189del" "r.(?)" "p.(Ser397Glnfs*4)" "12"
"0000486496" "00017482" "55" "1197" "0" "1214" "0" "c.1197_1214del" "r.(?)" "p.(Leu400_Asn405del)" "12"
"0000486497" "00017482" "55" "1235" "0" "1236" "0" "c.1235_1236del" "r.(?)" "p.(Lys412Argfs*15)" "13"
"0000486498" "00017482" "55" "1278" "0" "1278" "0" "c.1278del" "r.(?)" "p.(Phe426Leufs*31)" "13"
"0000486499" "00017482" "55" "1347" "0" "1348" "0" "c.1347_1348del" "r.(?)" "p.(Val450Serfs*12)" "14"
"0000486500" "00017482" "55" "1420" "0" "1451" "0" "c.1420_1451del" "r.(?)" "p.(Ser474Valfs*8)" ""
"0000486501" "00017482" "55" "1420" "0" "1420" "0" "c.1420del" "r.(?)" "p.(Ser474Alafs*4)" "15"
"0000486502" "00017482" "55" "1443" "0" "1449" "0" "c.1443_1449dup" "r.(?)" "p.(Met484Phefs*11)" "16"
"0000486503" "00017482" "55" "1462" "0" "1462" "0" "c.1462del" "r.(?)" "p.(Ala488Argfs*7)" "16"
"0000486504" "00017482" "55" "1463" "0" "1463" "0" "c.1463dup" "r.(?)" "p.(Cys489Valfs*4)" "16"
"0000486505" "00017482" "55" "1489" "0" "1489" "0" "c.1489del" "r.(?)" "p.(Thr497Hisfs*22)" "16"
"0000486506" "00017482" "55" "1498" "0" "1498" "0" "c.1498del" "r.(?)" "p.(Arg500Glufs*19)" "16"
"0000486507" "00017482" "55" "1551" "0" "1553" "0" "c.1551_1553del" "r.(?)" "p.(Ile517_Leu518delinsMet)" "17"
"0000486508" "00017482" "55" "1703" "0" "1703" "0" "c.1703dup" "r.(?)" "p.(Leu569Phefs*3)" "18"
"0000486509" "00017482" "55" "1717" "0" "1718" "0" "c.1717_1718del" "r.(?)" "p.(Ile573*)" "18"
"0000486510" "00017482" "55" "1847" "0" "1847" "0" "c.1847delinsTT" "r.(?)" "p.(Lys616Ilefs*37)" "18"
"0000486511" "00017482" "55" "1912" "0" "1912" "0" "c.1912del" "r.(?)" "p.(Thr638Profs*5)" "19"
"0000486512" "00017482" "55" "1976" "0" "1979" "0" "c.1976_1979del" "r.(?)" "p.(Tyr659Serfs*3)" "20"
"0000486513" "00017482" "55" "2027" "0" "2036" "0" "c.2027_2036del" "r.(?)" "p.(Leu676Serfs*17)" "20"
"0000486514" "00017482" "55" "2033" "0" "2033" "0" "c.2033del" "r.(?)" "p.(His678Leufs*18)" "20"
"0000486515" "00017482" "55" "2059" "0" "2062" "0" "c.2059_2062del" "r.(?)" "p.(Thr687Cysfs*8)" "20"
"0000486516" "00017482" "55" "2073" "0" "2074" "0" "c.2073_2074dup" "r.(?)" "p.(Tyr692Cysfs*5)" "20"
"0000486517" "00017482" "55" "2074" "0" "2092" "0" "c.2074_2092dup" "r.(?)" "p.(Arg698Ilefs*2)" "20"
"0000486518" "00017482" "55" "2092" "0" "2092" "0" "c.2092dup" "r.(?)" "p.(Arg698Lysfs*23)" "20"
"0000486519" "00017482" "55" "2107" "0" "2192" "0" "c.2107_2192delinsC" "r.(?)" "p.(Ile703Leufs*13)" "20i"
"0000486520" "00017482" "55" "2116" "0" "2128" "0" "c.2116_2128del" "r.(?)" "p.(Cys706Alafs*5)" "21"
"0000486521" "00017482" "55" "2172" "0" "2182" "0" "c.2172_2182del" "r.(?)" "p.(Val725Glnfs*22)" "21"
"0000486522" "00017482" "55" "2236" "0" "2242" "0" "c.2236_2242dup" "r.(?)" "p.(Glu748Glyfs*5)" "22"
"0000486523" "00017482" "55" "2238" "0" "2238" "0" "c.2238dup" "r.(?)" "p.(Glu747Argfs*4)" "22"
"0000486524" "00017482" "55" "2239" "0" "2242" "0" "c.2239_2242dup" "r.(?)" "p.(Glu748Glyfs*4)" "22"
"0000486525" "00017482" "55" "2329" "0" "2330" "0" "c.2329_2330del" "r.(?)" "p.(Pro777Tyrfs*17)" "23"
"0000486526" "00017482" "55" "2365" "0" "2366" "0" "c.2365_2366del" "r.(?)" "p.(Pro789Leufs*5)" "23"
"0000486527" "00017482" "55" "2383" "0" "2383" "0" "c.2383dup" "r.(?)" "p.(Ser795Phefs*20)" "23"
"0000486528" "00017482" "55" "2467" "0" "2467" "0" "c.2467del" "r.(?)" "p.(Thr823Glnfs*3)" "23"
"0000486529" "00017482" "55" "2663" "0" "2671" "0" "c.2663_2671del" "r.(?)" "p.(Ser888_Leu891delinsIle)" ""
"0000486530" "00017482" "99" "574" "0" "574" "0" "c.574A>T" "r.(?)" "p.(Lys192*)" "6"
"0000486531" "00017482" "77" "1498" "6" "1498" "6" "c.1498+6T>A" "r.(?)" "p.(=)" "16i"
"0000486532" "00017482" "55" "320" "0" "336" "0" "c.320_336del" "r.(?)" "p.(Ala107Aspfs*7)" "3"
"0000486533" "00017482" "55" "2184" "0" "2184" "0" "c.2184C>G" "r.(?)" "p.(Tyr728*)" "21"
"0000486534" "00017482" "77" "583" "0" "583" "0" "c.583T>C" "r.(?)" "p.(Trp195Arg)" "6"
"0000486535" "00017482" "99" "1985" "0" "1985" "0" "c.1985T>G" "r.(?)" "p.(Leu662Arg)" "20"
"0000486536" "00017482" "55" "1050" "-1" "1050" "-1" "c.1050-1G>A" "r.1216_1228del" "p.Ser350Argfs*13" "11"
"0000486537" "00017482" "55" "1336" "0" "1337" "0" "c.1336_1337insTA" "r.(?)" "p.(Tyr446Leufs*12)" "14"
"0000486538" "00017482" "55" "1596" "0" "1596" "0" "c.1596C>T" "r.(?)" "p.(=)" "17"
"0000486539" "00017482" "55" "1960" "5" "1960" "5" "c.1960+5G>A" "r.spl?" "p.?" "19"
"0000486540" "00017482" "55" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Leu223Pro)" "7"
"0000486541" "00017482" "55" "635" "0" "635" "0" "c.635del" "r.(?)" "p.(Leu212Argfs*2)" "7"
"0000486542" "00017482" "55" "2080" "0" "2081" "0" "c.2080_2081insCCTGCAGAACACCCTGCAGAA" "r.(?)" "p.(Leu694delinsProCysArgThrProCysArgIle)" "20"
"0000486543" "00017482" "55" "644" "0" "660" "0" "c.644_660del" "r.(?)" "p.(Ser215Leufs*4)" "7"
"0000486544" "00017482" "55" "608" "-16" "608" "0" "c.608-16_608del" "r.608_718del" "p.(Gly203_Lys240delinsGlu)" "7"
"0000486545" "00017482" "55" "642" "0" "642" "0" "c.642T>A" "r.(?)" "p.(=)" ""
"0000550878" "00017482" "30" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(Ala14=)" ""
"0000550879" "00017482" "30" "45" "0" "53" "0" "c.45_53del" "r.(?)" "p.(Ala16_Ala18del)" ""
"0000550880" "00017482" "50" "206" "0" "206" "0" "c.206A>G" "r.(?)" "p.(His69Arg)" ""
"0000550881" "00017482" "90" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Ter)" ""
"0000550882" "00017482" "10" "862" "-15" "862" "-15" "c.862-15C>A" "r.(=)" "p.(=)" ""
"0000550884" "00017482" "90" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552Ter)" ""
"0000550885" "00017482" "90" "1727" "0" "1727" "0" "c.1727C>G" "r.(?)" "p.(Ser576Ter)" ""
"0000550886" "00017482" "90" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Arg579Ter)" ""
"0000550887" "00017482" "90" "2211" "1" "2211" "1" "c.2211+1G>A" "r.spl?" "p.?" ""
"0000550888" "00017482" "10" "2212" "-13" "2212" "-12" "c.2212-13_2212-12insTTT" "r.(=)" "p.(=)" ""
"0000550889" "00017482" "90" "2223" "0" "2223" "0" "c.2223dup" "r.(?)" "p.(Val742CysfsTer9)" ""
"0000550890" "00017482" "90" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Arg787Ter)" ""
"0000550891" "00017482" "50" "2491" "0" "2491" "0" "c.2491A>G" "r.(?)" "p.(Ile831Val)" ""
"0000550892" "00017482" "30" "2521" "-11" "2521" "-11" "c.2521-11G>A" "r.(=)" "p.(=)" ""
"0000550894" "00017482" "50" "2785" "0" "2785" "0" "c.2785T>A" "r.(?)" "p.(Ter929ArgextTer21)" ""
"0000604237" "00017482" "50" "2325" "5" "2325" "5" "c.2325+5G>A" "r.(?)" "p.(?)" ""
"0000614656" "00017482" "90" "-197" "0" "-197" "0" "c.-197G>A" "r.(?)" "p.(=)" ""
"0000614657" "00017482" "30" "719" "-8" "719" "-8" "c.719-8T>C" "r.(=)" "p.(=)" ""
"0000614658" "00017482" "70" "2565" "0" "2569" "0" "c.2565_2569dup" "r.(?)" "p.(Arg857ProfsTer18)" ""
"0000623068" "00017482" "90" "1629" "0" "1630" "0" "c.1629_1630del" "r.(?)" "p.(Glu545AsnfsTer9)" ""
"0000623069" "00017482" "70" "2489" "0" "2489" "0" "c.2489G>A" "r.(?)" "p.(Arg830Lys)" ""
"0000648794" "00017482" "90" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255*)" ""
"0000648795" "00017482" "90" "1695" "30419" "1695" "30419" "c.1695+30419T>A" "r.(=)" "p.(=)" ""
"0000648796" "00017482" "90" "2370" "0" "2370" "0" "c.2370C>A" "r.(?)" "p.(Tyr790*)" ""
"0000648797" "00017482" "50" "2392" "0" "2392" "0" "c.2392C>T" "r.(?)" "p.(Arg798Trp)" ""
"0000653003" "00017482" "90" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Trp99*)" ""
"0000653004" "00017482" "90" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Trp99*)" ""
"0000657306" "00017482" "90" "19" "0" "19" "0" "c.19del" "r.(?)" "p.(Arg7GlufsTer58)" ""
"0000657307" "00017482" "30" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Thr307Ile)" ""
"0000675182" "00017482" "70" "1960" "1" "1960" "1" "c.1960+1G>T" "r.spl" "p.?" ""
"0000675210" "00017482" "70" "2035" "0" "2038" "0" "c.2035_2038dup" "r.(?)" "p.(Ile680Asnfs*13)" ""
"0000675211" "00017482" "70" "1215" "1" "1215" "1" "c.1215+1G>A" "r.spl?" "p.?" ""
"0000675212" "00017482" "70" "380" "1" "380" "1" "c.380+1G>A" "r.spl?" "p.?" ""
"0000675371" "00017482" "70" "1901" "0" "1901" "0" "c.1901C>G" "r.(?)" "p.(Ser634*)" ""
"0000675373" "00017482" "70" "1215" "1" "1215" "1" "c.1215+1G>A" "r.spl?" "p.?" ""
"0000675375" "00017482" "70" "1215" "1" "1215" "1" "c.1215+1G>A" "r.spl?" "p.?" ""
"0000679825" "00017482" "30" "380" "10" "380" "10" "c.380+10C>G" "r.(=)" "p.(=)" ""
"0000679826" "00017482" "90" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455Ter)" ""
"0000679827" "00017482" "30" "1861" "0" "1861" "0" "c.1861C>A" "r.(?)" "p.(Arg621Ser)" ""
"0000682705" "00017482" "70" "1498" "2" "1498" "2" "c.1498+2T>G" "r.spl?" "p.?" ""
"0000682767" "00017482" "70" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255*)" ""
"0000682776" "00017482" "70" "1215" "1" "1215" "1" "c.1215+1G>A" "r.spl?" "p.?" ""
"0000682795" "00017482" "50" "500" "46" "500" "46" "c.500+46A>G" "r.(=)" "p.(=)" "intron 4"
"0000682796" "00017482" "50" "500" "46" "500" "46" "c.500+46A>G" "r.(=)" "p.(=)" "intron 20"
"0000682797" "00017482" "50" "718" "28" "718" "28" "c.718+28C>T" "r.(=)" "p.(=)" "intron 23"
"0000682798" "00017482" "50" "1835" "0" "1835" "0" "c.1835C>T" "r.(?)" "p.(Ser612Phe)" "exon 19"
"0000682799" "00017482" "50" "1926" "0" "1926" "0" "c.1926G>A" "r.(=)" "p.(=)" "exon 19"
"0000682800" "00017482" "50" "1939" "0" "1939" "0" "c.1939C>T" "r.(?)" "p.(Leu647Phe)" "exon 19"
"0000682801" "00017482" "50" "718" "35" "718" "35" "c.718+35A>T" "r.(=)" "p.(=)" "intron 7"
"0000682802" "00017482" "50" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Leu572Phe)" "exon 18"
"0000682803" "00017482" "50" "2673" "0" "2673" "0" "c.2673C>T" "r.(=)" "p.(=)" "exon 26"
"0000682804" "00017482" "50" "718" "28" "718" "28" "c.718+28C>T" "r.(=)" "p.(=)" "intron 7"
"0000682805" "00017482" "50" "2398" "0" "2398" "0" "c.2398C>T" "r.(?)" "p.(Pro800Ser)" "exon 23"
"0000682806" "00017482" "50" "1490" "0" "1490" "0" "c.1490C>T" "r.(?)" "p.(Thr497Ile)" "exon 16"
"0000682807" "00017482" "50" "2106" "24" "2106" "24" "c.2106+24T>G" "r.(=)" "p.(=)" "intron 20"
"0000683450" "00017482" "70" "2106" "1" "2106" "1" "c.2106+1G>T" "r.spl?" "p.?" ""
"0000683451" "00017482" "70" "2106" "1" "2106" "1" "c.2106+1G>T" "r.spl?" "p.?" ""
"0000683452" "00017482" "70" "2106" "1" "2106" "1" "c.2106+1G>T" "r.spl?" "p.?" ""
"0000691555" "00017482" "50" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Trp)" ""
"0000691556" "00017482" "50" "2726" "0" "2726" "0" "c.2726C>A" "r.(?)" "p.(Thr909Lys)" ""
"0000713960" "00017482" "70" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255Gln)" ""
"0000713961" "00017482" "70" "2179" "0" "2179" "0" "c.2179G>A" "r.(?)" "p.(Ala727Thr)" ""
"0000713962" "00017482" "70" "2776" "0" "2776" "0" "c.2776G>A" "r.(?)" "p.(Glu926Lys)" ""
"0000724552" "00017482" "50" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Pro20Leu)" ""
"0000724553" "00017482" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" ""
"0000724554" "00017482" "90" "1568" "0" "1568" "0" "c.1568del" "r.(?)" "p.(Leu523*)" ""
"0000735192" "00017482" "30" "504" "0" "504" "0" "c.504A>T" "r.(?)" "p.(Thr168=)" ""
"0000765484" "00017482" "70" "83" "0" "83" "0" "c.83C>G" "r.(?)" "p.(Pro28Arg)" ""
"0000793760" "00017482" "70" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255Gln)" "8"
"0000793761" "00017482" "70" "2179" "0" "2179" "0" "c.2179G>A" "r.(?)" "p.(Ala727Thr)" "21"
"0000793762" "00017482" "70" "2776" "0" "2776" "0" "c.2776G>A" "r.(?)" "p.(Glu926Lys)" "27"
"0000806188" "00017482" "90" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358*)" ""
"0000806189" "00017482" "90" "1473" "0" "1473" "0" "c.1473del" "r.(?)" "p.(Glu492Argfs*3)" ""
"0000806190" "00017482" "90" "1494" "0" "1497" "0" "c.1494_1497del" "r.(?)" "p.(Tyr498*)" ""
"0000806191" "00017482" "90" "1498" "2" "1498" "2" "c.1498+2dup" "r.spl?" "p.?" ""
"0000806192" "00017482" "90" "2593" "0" "2593" "0" "c.2593G>T" "r.(?)" "p.(Gly865*)" ""
"0000812539" "00017482" "90" "500" "1" "500" "1" "c.500+1G>A" "r.spl" "p.(?)" ""
"0000812602" "00017482" "90" "2555" "0" "2555" "0" "c.2555dup" "r.(?)" "p.(Cys853Metfs*2)" ""
"0000812603" "00017482" "90" "1939" "0" "1940" "0" "c.1939_1940del" "r.(?)" "p.(Leu647Phefs*5)" ""
"0000812604" "00017482" "90" "1215" "1" "1215" "1" "c.1215+1G>A" "r.spl" "p.(?)" ""
"0000812605" "00017482" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" ""
"0000812640" "00017482" "90" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455*)" ""
"0000812641" "00017482" "70" "2236" "0" "2236" "0" "c.2236G>T" "r.(?)" "p.(Glu746*)" ""
"0000812660" "00017482" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" ""
"0000812673" "00017482" "90" "2376" "0" "2376" "0" "c.2376del" "r.(?)" "p.(Pro793Leufs*17)" ""
"0000812704" "00017482" "70" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Arg579*)" ""
"0000812705" "00017482" "90" "2249" "0" "2250" "0" "c.2249_2250dup" "r.(?)" "p.(Ser751Ilefs*4)" ""
"0000812706" "00017482" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Arg467*)" ""
"0000812707" "00017482" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" ""
"0000812708" "00017482" "70" "1953" "0" "1953" "0" "c.1953T>A" "r.(?)" "p.(Tyr651*)" ""
"0000812709" "00017482" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Arg467*)" ""
"0000812710" "00017482" "90" "137" "6" "137" "6" "c.137+6C>A" "r.spl?" "p.(?)" ""
"0000812711" "00017482" "90" "138" "-1" "138" "-1" "c.138-1G>C" "r.spl" "p.(?)" ""
"0000812726" "00017482" "90" "1215" "1" "1215" "1" "c.1215+1G>A" "r.spl" "p.(?)" ""
"0000812727" "00017482" "90" "1547" "0" "1550" "0" "c.1547_1550del" "r.(?)" "p.(Trp516Phefs*2)" ""
"0000812728" "00017482" "70" "585" "0" "585" "0" "c.585G>C" "r.(?)" "p.(Trp195Cys)" ""
"0000812729" "00017482" "50" "1861" "0" "1861" "0" "c.1861C>A" "r.(?)" "p.(Arg621Ser)" ""
"0000812730" "00017482" "70" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Arg787*)" ""
"0000812750" "00017482" "90" "760" "0" "760" "0" "c.760dup" "r.(?)" "p.(Arg254Lysfs*17)" ""
"0000812751" "00017482" "70" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Arg579*)" ""
"0000812774" "00017482" "70" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Arg787*)" ""
"0000812785" "00017482" "70" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Arg787*)" ""
"0000812790" "00017482" "70" "83" "0" "83" "0" "c.83C>G" "r.(?)" "p.(Pro28Arg)" ""
"0000812791" "00017482" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" ""
"0000812800" "00017482" "70" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Arg579*)" ""
"0000812801" "00017482" "90" "45" "0" "76" "0" "c.45_76del" "r.(?)" "p.(Ala17Profs*3)" ""
"0000812802" "00017482" "90" "853" "0" "853" "0" "c.853del" "r.(?)" "p.(Ile285*)" ""
"0000812803" "00017482" "90" "1215" "1" "1215" "1" "c.1215+1G>A" "r.spl" "p.(?)" ""
"0000812821" "00017482" "70" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552*)" ""
"0000812842" "00017482" "90" "1332" "1" "1332" "1" "c.1332+1G>T" "r.spl" "p.(?)" ""
"0000815860" "00017482" "70" "2247" "0" "2248" "0" "c.2247_2248insAA" "r.(?)" "p.(Asp750LysfsTer5)" ""
"0000853683" "00017482" "30" "264" "111" "264" "111" "c.264+111A>C" "r.(=)" "p.(=)" ""
"0000853684" "00017482" "30" "1390" "-17" "1390" "-17" "c.1390-17T>A" "r.(=)" "p.(=)" ""
"0000853685" "00017482" "10" "1390" "-14" "1390" "-14" "c.1390-14A>T" "r.(=)" "p.(=)" ""
"0000853686" "00017482" "90" "1981" "0" "1981" "0" "c.1981C>T" "r.(?)" "p.(Arg661Trp)" ""
"0000853687" "00017482" "30" "2520" "38" "2520" "38" "c.2520+38T>C" "r.(=)" "p.(=)" ""
"0000863395" "00017482" "30" "19" "0" "19" "0" "c.19C>A" "r.(?)" "p.(Arg7=)" ""
"0000863396" "00017482" "50" "2212" "-16" "2212" "-16" "c.2212-16dup" "r.(=)" "p.(=)" ""
"0000876931" "00017482" "70" "1695" "30793" "1695" "30793" "c.1695+30793T>A" "r.(=)" "p.(=)" ""
"0000876932" "00017482" "70" "1695" "30793" "1695" "30793" "c.1695+30793T>A" "r.(=)" "p.(=)" ""
"0000891551" "00017482" "50" "107" "0" "107" "0" "c.107A>G" "r.(?)" "p.(Asp36Gly)" ""
"0000891552" "00017482" "90" "219" "0" "220" "0" "c.219_220dup" "r.(?)" "p.(Ala74Glufs*4)" ""
"0000891553" "00017482" "90" "1346" "0" "1346" "0" "c.1346dup" "r.(?)" "p.(Val450Serfs*13)" ""
"0000891554" "00017482" "10" "1390" "-14" "1390" "-14" "c.1390-14A>T" "r.(=)" "p.(=)" ""
"0000891555" "00017482" "10" "2212" "-16" "2212" "-16" "c.2212-16del" "r.(=)" "p.(=)" ""
"0000891556" "00017482" "90" "2284" "0" "2284" "0" "c.2284C>T" "r.(?)" "p.(Gln762*)" ""
"0000914109" "00017482" "90" "1390" "-2" "1390" "-2" "c.1390-2A>G" "r.spl?" "p.?" ""
"0000916947" "00017482" "90" "1421" "0" "1421" "0" "c.1421G>T" "r.(?)" "p.(Ser474Ile)" ""
"0000925811" "00017482" "50" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" ""
"0000925812" "00017482" "90" "1688" "0" "1688" "0" "c.1688G>T" "r.(?)" "p.(Trp563Leu)" ""
"0000930255" "00017482" "50" "1695" "30832" "1695" "30832" "c.1695+30832T>C" "r.(=)" "p.(=)" ""
"0000950167" "00017482" "50" "290" "0" "290" "0" "c.290A>T" "r.(?)" "p.(Glu97Val)" ""
"0000950168" "00017482" "90" "1060" "0" "1061" "0" "c.1060_1061del" "r.(?)" "p.(Gln354Glufs*7)" ""
"0000950169" "00017482" "90" "1700" "0" "1700" "0" "c.1700C>A" "r.(?)" "p.(Ser567*)" ""
"0000950170" "00017482" "90" "2325" "1" "2325" "1" "c.2325+1G>A" "r.spl?" "p.?" ""
"0000954324" "00017482" "90" "1696" "-17181" "1696" "-17180" "c.1696-17181_1696-17180ins[NM_017867.2:c.-67_*108;A[?]]inv" "r.1695_1696ins[NM_017867.2:c.149_262inv]" "p.Ser565_Asp566insX[38]" "17i"
"0000967326" "00017482" "90" "811" "0" "811" "0" "c.811dup" "r.(?)" "p.(Thr271Asnfs*5)" ""
"0000967327" "00017482" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Arg467*)" ""
"0000967329" "00017482" "90" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Arg579Ter)" ""
"0000967330" "00017482" "50" "1814" "3" "1814" "3" "c.1814+3A>G" "r.spl?" "p.?" ""
"0000967331" "00017482" "90" "1963" "0" "1963" "0" "c.1963dup" "r.(?)" "p.(Tyr655Leufs*13)" ""
"0000967334" "00017482" "90" "2326" "-2" "2326" "-2" "c.2326-2A>G" "r.spl?" "p.?" ""
"0000972463" "00017482" "70" "1199" "0" "1199" "0" "c.1199T>C" "r.(1199T>C)" "p.(Leu400Pro)" "12"
"0000980699" "00017482" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" ""
"0000980700" "00017482" "90" "1848" "0" "1848" "0" "c.1848dup" "r.(?)" "p.(Gly617Argfs*36)" ""
"0001000605" "00017482" "30" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Pro20Leu)" ""
"0001000606" "00017482" "30" "1721" "0" "1721" "0" "c.1721A>G" "r.(?)" "p.(Lys574Arg)" ""
"0001015090" "00017482" "90" "861" "1" "861" "1" "c.861+1G>A" "r.spl?" "p.?" ""
"0001026336" "00017482" "90" "373" "0" "373" "0" "c.373G>T" "r.(?)" "p.(Glu125*)" ""
"0001026337" "00017482" "90" "1532" "0" "1532" "0" "c.1532dup" "r.(?)" "p.(Asp511Glufs*12)" ""
"0001026338" "00017482" "90" "2520" "1" "2520" "1" "c.2520+1G>A" "r.spl?" "p.?" ""
"0001039720" "00017482" "90" "1389" "1" "1389" "1" "c.1389+1G>T" "r.spl?" "p.?" ""
"0001039721" "00017482" "90" "1723" "0" "1723" "0" "c.1723C>T" "r.(?)" "p.(Gln575*)" ""
"0001039722" "00017482" "30" "2212" "-9" "2212" "-9" "c.2212-9C>A" "r.(=)" "p.(=)" ""
"0001039723" "00017482" "70" "2490" "-3" "2490" "-3" "c.2490-3C>G" "r.spl?" "p.?" ""
"0001046444" "00017482" "90" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Arg7*)" ""
"0001046445" "00017482" "90" "19" "0" "19" "0" "c.19dup" "r.(?)" "p.(Arg7Profs*24)" ""
"0001046446" "00017482" "90" "608" "-2" "608" "-2" "c.608-2A>C" "r.spl?" "p.?" ""
"0001046447" "00017482" "50" "939" "3" "939" "3" "c.939+3A>G" "r.spl?" "p.?" ""
"0001046448" "00017482" "90" "1475" "0" "1476" "0" "c.1475_1476del" "r.(?)" "p.(Glu492Glyfs*7)" ""
"0001046449" "00017482" "90" "1960" "0" "1960" "0" "c.1960G>T" "r.(?)" "p.(Val654Leu)" ""
"0001046450" "00017482" "70" "2102" "0" "2102" "0" "c.2102A>T" "r.(?)" "p.(Asp701Val)" ""
"0001046451" "00017482" "70" "2520" "5" "2520" "5" "c.2520+5G>A" "r.spl?" "p.?" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 92
"{{screeningid}}" "{{variantid}}"
"0000019824" "0000040272"
"0000100502" "0000735192"
"0000104471" "0000169293"
"0000104489" "0000169357"
"0000164711" "0000368271"
"0000182184" "0000406061"
"0000182185" "0000406068"
"0000182186" "0000406062"
"0000182187" "0000406063"
"0000182188" "0000406064"
"0000182189" "0000406065"
"0000182192" "0000406069"
"0000270479" "0000604237"
"0000292105" "0000648794"
"0000292106" "0000648795"
"0000292107" "0000648796"
"0000292108" "0000648797"
"0000296314" "0000653003"
"0000296315" "0000653004"
"0000308281" "0000675182"
"0000308282" "0000682802"
"0000308283" "0000682803"
"0000308285" "0000675210"
"0000308286" "0000675211"
"0000308287" "0000675212"
"0000308287" "0000682804"
"0000308287" "0000682805"
"0000308390" "0000675371"
"0000308391" "0000675373"
"0000308391" "0000682796"
"0000308392" "0000683450"
"0000308394" "0000675375"
"0000308398" "0000682705"
"0000308399" "0000682797"
"0000308399" "0000682798"
"0000308399" "0000682799"
"0000308399" "0000682800"
"0000308400" "0000682795"
"0000308401" "0000682806"
"0000308402" "0000683451"
"0000308403" "0000682767"
"0000308403" "0000682801"
"0000308404" "0000683452"
"0000308405" "0000682776"
"0000308418" "0000682807"
"0000329612" "0000713960"
"0000329613" "0000713961"
"0000329614" "0000713962"
"0000364619" "0000765484"
"0000380608" "0000793760"
"0000380609" "0000793761"
"0000380610" "0000793762"
"0000385476" "0000812539"
"0000385525" "0000812602"
"0000385526" "0000812603"
"0000385527" "0000812604"
"0000385528" "0000812605"
"0000385557" "0000812640"
"0000385558" "0000812641"
"0000385572" "0000812660"
"0000385584" "0000812673"
"0000385610" "0000812704"
"0000385611" "0000812705"
"0000385612" "0000812706"
"0000385613" "0000812707"
"0000385614" "0000812708"
"0000385615" "0000812709"
"0000385616" "0000812710"
"0000385617" "0000812711"
"0000385630" "0000812726"
"0000385631" "0000812727"
"0000385632" "0000812728"
"0000385633" "0000812729"
"0000385634" "0000812730"
"0000385651" "0000812750"
"0000385652" "0000812751"
"0000385672" "0000812774"
"0000385681" "0000812785"
"0000385686" "0000812790"
"0000385687" "0000812791"
"0000385693" "0000812800"
"0000385694" "0000812801"
"0000385695" "0000812802"
"0000385696" "0000812803"
"0000385710" "0000812821"
"0000385728" "0000812842"
"0000387726" "0000815860"
"0000417298" "0000876931"
"0000417299" "0000876932"
"0000431561" "0000916947"
"0000446066" "0000954324"
"0000450468" "0000972463"