### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCC6) # 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}}" "ABCC6" "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" "16" "p13.11" "unknown" "NG_007558.2" "UD_132084530575" "" "https://www.LOVD.nl/ABCC6" "" "1" "57" "368" "603234" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ABCC6_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00000" "2012-07-06 00:00:00" "00006" "2020-04-18 11:21:14" "00000" "2026-01-20 18:57:21" ## 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}}" "00000864" "ABCC6" "transcript variant 1" "001" "NM_001171.5" "" "NP_001162.4" "" "" "" "-37" "5080" "4512" "16243422" "16317328" "00000" "2012-09-13 12:56:16" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01533" "PXEFF" "pseudoxanthoma elasticum, forme fruste (PXEFF)" "AD" "177850" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01664" "GACI1" "calcification, arterial, generalized, infancy, type 1 (GACI-1)" "AR" "208000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02035" "PXE" "pseudoxanthoma elasticum (PXE)" "AR" "264800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03657" "GACI2" "calcification, arterial, generalized, of infancy, type 2 (GACI-2)" "AR" "614473" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ABCC6" "01533" "ABCC6" "02035" "ABCC6" "03657" ## Individuals ## Do not remove or alter this header ## ## Count = 878 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050510" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050546" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00079069" "" "" "" "1" "" "01675" "{PMID:Patel 2004:15029465}" "2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs" "F" "no" "South Africa" "" "0" "" "" "" "" "00088257" "" "" "" "1" "" "00240" "{PMID:Tan 2012:22261738}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Somalian" "" "00088258" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088259" "" "" "" "1" "" "00240" "" "" "M" "" "" "" "0" "" "" "" "" "00088260" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088261" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088262" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088263" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088264" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088265" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088266" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088267" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088268" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088269" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088270" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088271" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088272" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088273" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088274" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088275" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088276" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088277" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088278" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088279" "" "" "" "1" "" "00240" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "" "" "0" "" "" "" "" "00088280" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088281" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088282" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088283" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088284" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088285" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088286" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088287" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088288" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088289" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088290" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088291" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088292" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088293" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088294" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088295" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088296" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088297" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088298" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088299" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088300" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088301" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088302" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088303" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088304" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088305" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088306" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088307" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088308" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088309" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088310" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088311" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088312" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088313" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088314" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088315" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088316" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088317" "" "" "" "1" "" "00240" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "" "" "0" "" "" "" "" "00088318" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088319" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088320" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088321" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088322" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088323" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088324" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088325" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088326" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088327" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088328" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088329" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088330" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088331" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088332" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088333" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088334" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088335" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088336" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088337" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088338" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088339" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088340" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088341" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088342" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088343" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088344" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088345" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088346" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088347" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088348" "" "" "" "1" "" "00240" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "" "" "0" "" "" "" "" "00088349" "" "" "" "1" "" "00240" "{PMID:Germain 2000:10913334}" "" "" "" "" "" "0" "" "" "" "" "00088350" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088351" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088352" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088353" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088354" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088355" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088356" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088357" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088358" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088359" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088360" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088361" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088362" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088363" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088364" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088365" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088366" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088367" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088368" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088369" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088370" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088371" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088372" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088373" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088374" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088375" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088376" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088377" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088378" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088379" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088380" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088381" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088382" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088383" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088384" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088385" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088386" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088387" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088388" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088389" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088390" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088391" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088392" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088393" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088394" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088395" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088396" "" "" "" "1" "" "00240" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "" "" "0" "" "" "" "" "00088397" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088398" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088399" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088400" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088401" "" "" "" "1" "" "00240" "{PMID:Uitto 2001:11427982}" "" "" "" "" "" "0" "" "" "" "" "00088402" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088403" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088404" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088405" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088406" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088407" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088408" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088409" "" "" "" "1" "" "00240" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "" "" "0" "" "" "" "" "00088410" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088411" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088412" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088413" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088414" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088415" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088416" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088417" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088418" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088419" "" "" "" "1" "" "00240" "{PMID:Meloni 2001:11439001}" "" "" "" "" "" "0" "" "" "" "" "00088420" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088421" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088422" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088423" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088424" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088425" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088426" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088427" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088428" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088429" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088430" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088431" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088432" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088433" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088434" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088435" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088436" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088437" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088438" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088439" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088440" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088441" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088442" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088443" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088444" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088445" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088446" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088447" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088448" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088449" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088450" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088451" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088452" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088453" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088454" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088455" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088456" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088457" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088458" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088459" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088460" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088461" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088462" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088463" "" "" "" "1" "" "00240" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "" "" "0" "" "" "" "" "00088464" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088465" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088466" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088467" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088468" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088469" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088470" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088471" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088472" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088473" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088474" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088475" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088476" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088477" "" "" "" "1" "" "00240" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "" "" "0" "" "" "" "" "00088478" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088479" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088480" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088481" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088482" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088483" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088484" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088485" "" "" "" "1" "" "00240" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "" "" "0" "" "" "" "" "00088486" "" "" "" "1" "" "00240" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "" "" "0" "" "" "" "" "00088487" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088488" "" "" "" "11" "" "00240" "{PMID:Bergen 2000:10835643}" "7-generation family, 11 affecteds (4F, 7M), unaffected heterozygous carrier relatives" "F;M" "yes" "" "" "0" "" "" "" "" "00088489" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "no" "" "" "0" "" "" "" "" "00088490" "" "" "" "1" "" "00240" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088491" "" "" "" "1" "" "00240" "{PMID:Germain 2000:10913334}" "" "" "" "" "" "0" "" "" "" "" "00088492" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088493" "" "" "" "1" "" "00240" "{PMID:Struk 2000:10954200}" "" "" "" "" "" "0" "" "" "" "" "00088494" "" "" "" "1" "" "00240" "{PMID:Uitto 2001:11427982}" "" "" "" "" "" "0" "" "" "" "" "00088495" "" "" "" "1" "" "00240" "{PMID:Uitto 2001:11427982}" "" "" "" "" "" "0" "" "" "" "" "00088496" "" "" "" "1" "" "00240" "{PMID:Uitto 2001:11427982}" "" "" "" "" "" "0" "" "" "" "" "00088497" "" "" "" "1" "" "00240" "{PMID:Meloni 2001:11439001}" "" "" "" "" "" "0" "" "" "" "" "00088498" "" "" "" "1" "" "00240" "{PMID:Meloni 2001:11439001}" "" "" "" "" "" "0" "" "" "" "" "00088499" "" "" "" "1" "" "00240" "{PMID:Meloni 2001:11439001}" "" "" "" "" "" "0" "" "" "" "" "00088500" "" "" "" "1" "" "00240" "{PMID:Meloni 2001:11439001}" "" "" "" "" "" "0" "" "" "" "" "00088501" "" "" "" "1" "" "00240" "{PMID:Meloni 2001:11439001}" "" "" "" "" "" "0" "" "" "" "" "00088502" "" "" "" "1" "" "00240" "{PMID:Meloni 2001:11439001}" "" "" "" "" "" "0" "" "" "" "" "00088503" "" "" "" "1" "" "00240" "{PMID:Meloni 2001:11439001}" "" "" "" "" "" "0" "" "" "" "" "00088504" "" "" "" "1" "" "00240" "{PMID:Meloni 2001:11439001}" "" "" "" "" "" "0" "" "" "" "" "00088505" "" "" "" "1" "" "00240" "{PMID:Meloni 2001:11439001}" "" "" "" "" "" "0" "" "" "" "" "00088506" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088507" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088508" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088509" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088510" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088511" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088512" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088513" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088514" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088515" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088516" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088517" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088518" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088519" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088520" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088521" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088522" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088523" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088524" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088525" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088526" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088527" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088528" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088529" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088530" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088531" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088532" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088533" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088534" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088535" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088536" "" "" "" "1" "" "00240" "{PMID:Le Saux 2001:11536079}" "" "" "" "" "" "0" "" "" "" "" "00088537" "" "" "" "1" "" "00240" "{PMID:Cai 2001:11692167}" "" "" "" "" "" "0" "" "" "" "" "00088538" "" "" "" "1" "" "00240" "{PMID:Cai 2001:11692167}" "" "" "" "" "" "0" "" "" "" "" "00088539" "" "" "" "1" "" "00240" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "" "" "0" "" "" "" "" "00088540" "" "" "" "1" "" "00240" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "" "" "0" "" "" "" "" "00088541" "" "" "" "1" "" "00240" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "" "" "0" "" "" "" "" "00088542" "" "" "" "1" "" "00240" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "" "" "0" "" "" "" "" "00088543" "" "" "" "1" "" "00240" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "" "" "0" "" "" "" "" "00088544" "" "" "" "1" "" "00240" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "" "" "0" "" "" "" "" "00088545" "" "" "" "3" "" "00240" "{PMID:Pulkkinen 2001:11702217}" "3-generation family, 3 affecteds (2F, M), unaffected heterozygous carriers" "F;M" "yes" "United States" "" "0" "" "" "" "11702217-Fam1" "00088546" "" "" "" "1" "" "00240" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "" "" "0" "" "" "" "" "00088548" "" "" "" "1" "" "00240" "{PMID:Pulkkinen 2001:11702217}" "2-generation family, 1 affected, unaffected parents" "" "" "United States" "" "0" "" "" "" "11702217-Fam2Pat1" "00088549" "" "" "" "1" "" "00240" "{PMID:Le Saux 2002:12384774}" "" "" "" "" "" "0" "" "" "" "" "00088550" "" "" "" "1" "" "00240" "{PMID:Le Saux 2002:12384774}" "" "" "" "" "" "0" "" "" "" "" "00088551" "" "" "" "1" "" "00240" "{PMID:Le Saux 2002:12384774}" "" "" "" "" "" "0" "" "" "" "" "00088552" "" "" "" "1" "" "00240" "{PMID:Le Saux 2002:12384774}" "" "" "" "" "" "0" "" "" "" "" "00088553" "" "" "" "1" "" "00240" "{PMID:Le Saux 2002:12384774}" "" "" "" "" "" "0" "" "" "" "" "00088554" "" "" "" "1" "" "00240" "{PMID:Le Saux 2002:12384774}" "" "" "" "" "" "0" "" "" "" "" "00088555" "" "" "" "1" "" "00240" "{PMID:Le Saux 2002:12384774}" "" "" "" "" "" "0" "" "" "" "" "00088556" "" "" "" "1" "" "00240" "{PMID:Le Saux 2002:12384774}" "" "" "" "" "" "0" "" "" "" "" "00088557" "" "" "" "1" "" "00240" "{PMID:Le Saux 2002:12384774}" "" "" "" "" "" "0" "" "" "" "" "00088558" "" "" "" "1" "" "00240" "{PMID:Le Saux 2002:12384774}" "" "" "" "" "" "0" "" "" "" "" "00088559" "" "" "" "1" "" "00240" "{PMID:Hu 2003:12673275}" "" "" "" "" "" "0" "" "" "" "" "00088560" "" "" "" "1" "" "00240" "{PMID:Hu 2003:12673275}" "" "" "" "" "" "0" "" "" "" "" "00088561" "" "" "" "1" "" "00240" "{PMID:Hu 2003:12673275}" "" "" "" "" "" "0" "" "" "" "" "00088562" "" "" "" "1" "" "00240" "{PMID:Hu 2003:12673275}" "" "" "" "" "" "0" "" "" "" "" "00088563" "" "" "" "1" "" "00240" "{PMID:Hu 2003:12673275}" "" "" "" "" "" "0" "" "" "" "" "00088564" "" "" "" "1" "" "00240" "{PMID:Hu 2003:12673275}" "" "" "" "" "" "0" "" "" "" "" "00088565" "" "" "" "1" "" "00240" "{PMID:Hu 2003:12673275}" "" "" "" "" "" "0" "" "" "" "" "00088566" "" "" "" "1" "" "00240" "{PMID:Hu 2003:12673275}" "" "" "" "" "" "0" "" "" "" "" "00088567" "" "" "" "1" "" "00240" "{PMID:Hu 2003:12673275}" "" "" "" "" "" "0" "" "" "" "" "00088568" "" "" "" "1" "" "00240" "{PMID:Hu 2003:12673275}" "" "" "" "" "" "0" "" "" "" "" "00088569" "" "" "" "1" "" "00240" "{PMID:Morcher 2003:12928920}" "" "" "" "" "" "0" "" "" "" "" "00088570" "" "" "" "1" "" "00240" "{PMID:Götting 2004:14631379}" "" "" "" "" "" "0" "" "" "" "" "00088571" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088572" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088573" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088574" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088575" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088576" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088577" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088578" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088579" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088580" "" "" "" "1" "" "00240" "{PMID:Chassaing 2004:15086542}" "" "" "" "" "" "0" "" "" "" "" "00088581" "" "" "" "1" "" "00240" "{PMID:Yoshida 2005:15184964}" "" "" "" "" "" "0" "" "" "" "" "00088582" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088583" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088584" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088585" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088586" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088587" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088588" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088589" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088590" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088591" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088592" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088593" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088594" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088595" "" "" "" "1" "" "00240" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "" "" "0" "" "" "" "" "00088596" "" "" "" "1" "" "00240" "{PMID:Noji 2004:15645653}" "" "" "" "" "" "0" "" "" "" "" "00088597" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088598" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088599" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088600" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088601" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088602" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088603" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088604" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088605" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088606" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088607" "" "" "" "1" "" "00240" "{PMID:Hendig 2005:15723264}" "" "" "" "" "" "0" "" "" "" "" "00088608" "" "" "" "1" "" "00240" "{PMID:Hu 2004:15727254}" "" "" "" "" "" "0" "" "" "" "" "00088609" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088610" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088611" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088612" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088613" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088614" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088615" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088616" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088617" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088618" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088619" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088620" "" "" "" "1" "" "00240" "{PMID:Chassaing 2005:15894595}" "" "" "" "" "" "0" "" "" "" "" "00088621" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088622" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088623" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088624" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088625" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088626" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088627" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088628" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088629" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088630" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088631" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088632" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088633" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088634" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088635" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088636" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088637" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088638" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088639" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088640" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088641" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088642" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088643" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088644" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088645" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088646" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088647" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088648" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088649" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088650" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088651" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088652" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088653" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088654" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088655" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088656" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088657" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088658" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088659" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088660" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088661" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088662" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088663" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088664" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088665" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088666" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088667" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088668" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088669" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088670" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088671" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088672" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088673" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088674" "" "" "" "1" "" "00240" "{PMID:Miksch 2005:16086317}" "" "" "" "" "" "0" "" "" "" "" "00088675" "" "" "" "1" "" "00240" "{PMID:Meyer 2005:16086762}" "" "" "" "" "" "0" "" "" "" "" "00088676" "" "" "" "1" "" "00240" "{PMID:Meyer 2005:16086762}" "" "" "" "" "" "0" "" "" "" "" "00088677" "" "" "" "1" "" "00240" "{PMID:Meyer 2005:16086762}" "" "" "" "" "" "0" "" "" "" "" "00088678" "" "" "" "1" "" "00240" "{PMID:Schulz 2005:16127278}" "" "" "" "" "" "0" "" "" "" "" "00088679" "" "" "" "1" "" "00240" "{PMID:Schulz 2005:16127278}" "" "" "" "" "" "0" "" "" "" "" "00088680" "" "" "" "1" "" "00240" "{PMID:Schulz 2005:16127278}" "" "" "" "" "" "0" "" "" "" "" "00088681" "" "" "" "1" "" "00240" "{PMID:Schulz 2005:16127278}" "" "" "" "" "" "0" "" "" "" "" "00088682" "" "" "" "1" "" "00240" "{PMID:Schulz 2005:16127278}" "" "" "" "" "" "0" "" "" "" "" "00088683" "" "" "" "1" "" "00240" "{PMID:Schulz 2005:16127278}" "" "" "" "" "" "0" "" "" "" "" "00088684" "" "" "" "1" "" "00240" "{PMID:Schulz 2005:16392638}" "" "" "" "" "" "0" "" "" "" "" "00088685" "" "" "" "1" "" "00240" "{PMID:Schulz 2005:16392638}" "" "" "" "" "" "0" "" "" "" "" "00088686" "" "" "" "1" "" "00240" "{PMID:Schulz 2005:16392638}" "" "" "" "" "" "0" "" "" "" "" "00088687" "" "" "" "1" "" "00240" "{PMID:Ringpfeil 2006:16410789}" "" "" "" "" "" "0" "" "" "" "" "00088688" "" "" "" "1" "" "00240" "{PMID:Ringpfeil 2006:16410789}" "" "" "" "" "" "0" "" "" "" "" "00088689" "" "" "" "1" "" "00240" "{PMID:Ringpfeil 2006:16410789}" "" "" "" "" "" "0" "" "" "" "" "00088690" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088691" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088692" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088693" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088694" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088695" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088696" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088697" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088698" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088699" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088700" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088701" "" "" "" "1" "" "00240" "{PMID:Schulz 2006:16835894}" "" "" "" "" "" "0" "" "" "" "" "00088702" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088703" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088704" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088705" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088706" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088707" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088708" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088709" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088710" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088711" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088712" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088713" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088714" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088715" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088716" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088717" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088718" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088719" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088720" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088721" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088722" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088723" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088724" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088725" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088726" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088727" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088728" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088729" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088730" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088731" "" "" "" "1" "" "00240" "{PMID:Pfendner 2007:17617515}" "" "" "" "" "" "0" "" "" "" "" "00088732" "" "" "" "1" "" "00240" "{PMID:Audo 2007:17724214}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "" "" "" "00088733" "" "" "" "1" "" "00240" "{PMID:Chassaing 2007:17823974}" "" "" "" "" "" "0" "" "" "" "" "00088734" "" "" "" "1" "" "00240" "{PMID:Chassaing 2007:17823974}" "" "" "" "" "" "0" "" "" "" "" "00088735" "" "" "" "1" "" "00240" "{PMID:Chassaing 2007:17823974}" "" "" "" "" "" "0" "" "" "" "" "00088736" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088737" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088738" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088739" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088740" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088741" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088742" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088743" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088744" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088745" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088746" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088747" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088748" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088749" "" "" "" "1" "" "00240" "{PMID:Vanakker 2008:18157818}" "" "" "" "" "" "0" "" "" "" "" "00088750" "" "" "" "1" "" "00240" "{PMID:Plomp 2008:18253096}" "" "" "" "" "" "0" "" "" "" "" "00088751" "" "" "" "1" "" "00240" "{PMID:Plomp 2008:18253096}" "" "" "" "" "" "0" "" "" "" "" "00088752" "" "" "" "1" "" "00240" "{PMID:Plomp 2008:18253096}" "" "" "" "" "" "0" "" "" "" "" "00088753" "" "" "" "1" "" "00240" "{PMID:Plomp 2008:18253096}" "" "" "" "" "" "0" "" "" "" "" "00088754" "" "" "" "1" "" "00240" "{PMID:Plomp 2008:18253096}" "" "" "" "" "" "0" "" "" "" "" "00088755" "" "" "" "1" "" "00240" "{PMID:Plomp 2008:18253096}" "" "" "" "" "" "0" "" "" "" "" "00088756" "" "" "" "1" "" "00240" "{PMID:Plomp 2008:18253096}" "" "" "" "" "" "0" "" "" "" "" "00088757" "" "" "" "1" "" "00240" "{PMID:Plomp 2008:18253096}" "" "" "" "" "" "0" "" "" "" "" "00088758" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088759" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088760" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088761" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088762" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088763" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088764" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088765" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088766" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088767" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088768" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088769" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088770" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088771" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088772" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088773" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088774" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00088775" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}" "" "" "no" "United States" "" "0" "" "" "" "" "00088776" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}" "" "" "no" "" "" "0" "" "" "" "" "00088777" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}" "" "" "no" "" "" "0" "" "" "" "" "00088778" "" "" "" "4" "" "00240" "{PMID:Le Saux 2000:10835642}" "11-generation family, 4 affecteds, numerous unaffected carriers" "" "yes" "Italy" "" "0" "" "" "" "" "00088779" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "no" "" "" "0" "" "" "" "" "00088780" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "no" "" "" "0" "" "" "" "" "00088781" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}" "" "" "no" "" "" "0" "" "" "" "" "00088782" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}" "" "" "no" "" "" "0" "" "" "" "" "00088783" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0005}" "autosomal dominant inheritance?" "" "no" "" "" "0" "" "" "" "" "00088784" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}" "" "" "no" "" "" "0" "" "" "" "" "00088785" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}" "" "" "no" "" "" "0" "" "" "" "" "00088786" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}" "" "" "no" "" "" "0" "" "" "" "" "00088787" "" "" "" "1" "" "00240" "{PMID:Le Saux 2000:10835642}" "" "" "" "" "" "0" "" "" "" "" "00088788" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088789" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088790" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088791" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088792" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088793" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088794" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088795" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088796" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088797" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088798" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088799" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088800" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088801" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088802" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088803" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088804" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088805" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088806" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088807" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088808" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088809" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088810" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088811" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088812" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088813" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088814" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088815" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088816" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088817" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088818" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088819" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088820" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088821" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088822" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088823" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088824" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088825" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088826" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088827" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088828" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088829" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088830" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088831" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088832" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088833" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088834" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088835" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088836" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088837" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088838" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088839" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088840" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088841" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088842" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088843" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088844" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088845" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088846" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088847" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088848" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088849" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088850" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088851" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088852" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088853" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088854" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088855" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088856" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088857" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088858" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088859" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088860" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088861" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088862" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088863" "" "" "" "1" "" "00240" "" "" "" "" "" "" "0" "" "" "" "" "00088865" "" "" "" "1" "" "00006" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088866" "" "" "" "1" "" "00006" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088867" "" "" "" "1" "" "00006" "{PMID:Bergen 2000:10835643}" "" "" "" "" "" "0" "" "" "" "" "00088868" "" "" "" "1" "" "00006" "{PMID:Audo 2007:17724214}" "" "F" "" "" "" "0" "" "" "" "" "00088869" "" "" "" "1" "" "00006" "{PMID:Audo 2007:17724214}" "" "M" "" "" "" "0" "" "" "white" "" "00088871" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088872" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088873" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088874" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088875" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088876" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088877" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088878" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088879" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088880" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088881" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088882" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088883" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088884" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088885" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088886" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088887" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088888" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088889" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088890" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088891" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088892" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088893" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088894" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088895" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088896" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088897" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088898" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088899" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088900" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088901" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088902" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088903" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088904" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088905" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088906" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088907" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088908" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088909" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088910" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088911" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088912" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088913" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088914" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088915" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088916" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088917" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088918" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088919" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088920" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088921" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088922" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088923" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088924" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088925" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088926" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088927" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088928" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088929" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088930" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088931" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088932" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088933" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088934" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088935" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088936" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088937" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088938" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088939" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088940" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088941" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00088942" "" "" "" "1" "" "01806" "Legrand submitted" "" "" "" "France" "" "0" "" "" "" "" "00100526" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat1" "00100527" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat2" "00100528" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat3" "00100529" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat4" "00100530" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat5" "00100531" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat6" "00100532" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat7" "00100533" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat8" "00100534" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat9" "00100535" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat10" "00100536" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat11" "00100537" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat12" "00100538" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat13" "00100539" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat14" "00100540" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat15" "00100541" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat16" "00100542" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat17" "00100543" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat18" "00100544" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat19" "00100545" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat20" "00100546" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat21" "00100547" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat22" "00100548" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat23" "00100549" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat24" "00100550" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat25" "00100551" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat26" "00100552" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat27" "00100553" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat28" "00100554" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat29" "00100555" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat30" "00100556" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat31" "00100557" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat32" "00100558" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat33" "00100559" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat34" "00100560" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat35" "00100561" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat36" "00100562" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat37" "00100563" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat38" "00100564" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat39" "00100565" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat40" "00100566" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat41" "00100567" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat42" "00100568" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat43" "00100569" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat44" "00100570" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat45" "00100571" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat46" "00100572" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat47" "00100573" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat48" "00100574" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat49" "00100575" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat50" "00100576" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat51" "00100577" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat52" "00100578" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat53" "00100579" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat54" "00100580" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat55" "00100581" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat56" "00100582" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat57" "00100583" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat58" "00100584" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat59" "00100585" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat60" "00100586" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat61" "00100587" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat62" "00100588" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat63" "00100589" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat64" "00100590" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat65" "00100591" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat66" "00100592" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat67" "00100593" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat68" "00100594" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat69" "00100595" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat70" "00100596" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat71" "00100597" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "F" "" "Japan" "" "0" "" "" "" "28186352-Pat72" "00100598" "" "" "" "1" "" "00006" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "M" "" "Japan" "" "0" "" "" "" "28186352-Pat73" "00100602" "" "" "" "1" "" "00006" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "United States" "" "0" "" "" "" "11702217-?" "00100603" "" "" "" "1" "" "00006" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "United States" "" "0" "" "" "" "11702217-?" "00100604" "" "" "" "1" "" "00006" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "United States" "" "0" "" "" "" "11702217-?" "00100605" "" "" "" "1" "" "00006" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "United States" "" "0" "" "" "" "11702217-?" "00100606" "" "" "" "1" "" "00006" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "United States" "" "0" "" "" "" "11702217-?" "00245901" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00291387" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291389" "" "" "" "158" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291390" "" "" "" "251" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291391" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291392" "" "" "" "139" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291393" "" "" "" "139" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291394" "" "" "" "40" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295460" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295668" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00299700" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00304499" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304500" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304501" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304502" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304503" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308922" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308923" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308924" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308925" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308926" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00328107" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005222" "00331737" "" "" "" "1" "" "00000" "{PMID:Sanchez-Navarro 2018:29588463}" "" "" "" "Spain" "" "0" "" "" "" "V-0799" "00334273" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "925" "00334274" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "926" "00375267" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat54" "00375410" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#001" "00375426" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#020" "00375433" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#028" "00380116" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?" "00380117" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?" "00381809" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "" "" "" "0" "" "" "" "" "00386781" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2932_004517" "00390156" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005222" "00390157" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G012324" "00390768" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00390800" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00390801" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00390803" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00390804" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00390805" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00394372" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "PE1" "00394799" "" "" "" "1" "" "00000" "{PMID:Kim 2021:33946315}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "14-17" "00394804" "" "" "" "1" "" "00000" "{PMID:Kim 2021:33946315}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "61-96" "00409139" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam1Pat1" "00409140" "" "" "" "3" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 3 affected (F, 2M)" "M" "" "Belgium" "" "0" "" "" "" "Fam2Pat2" "00409141" "" "" "00409140" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "M" "" "Belgium" "" "0" "" "" "" "Fam2Pat3" "00409142" "" "" "00409140" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "F" "" "Belgium" "" "0" "" "" "" "Fam2Pat4" "00409143" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam3Pat5" "00409144" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam4Pat6" "00409145" "" "" "" "2" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 2 affected (2M)" "M" "" "Belgium" "" "0" "" "" "" "Fam5Pat7" "00409146" "" "" "00409145" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "M" "" "Belgium" "" "0" "" "" "" "Fam5Pat8" "00409147" "" "" "" "2" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 2 affected (F, M)" "M" "" "Belgium" "" "0" "" "" "" "Fam6Pat9" "00409148" "" "" "00409147" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "F" "" "Belgium" "" "0" "" "" "" "Fam6Pat10" "00409149" "" "" "" "2" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 2 affected (F, M)" "M" "" "Belgium" "" "0" "" "" "" "Fam7Pat11" "00409150" "" "" "00409149" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "F" "" "Belgium" "" "0" "" "" "" "Fam7Pat12" "00409151" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam8Pat13" "00409152" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam9Pat14" "00409153" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam10Pat15" "00409154" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam11Pat16" "00409155" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam12Pat17" "00409156" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam13Pat18" "00409157" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam14Pat19" "00409158" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam15Pat20" "00409159" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam16Pat21" "00409160" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam17Pat22" "00409161" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam18Pat23" "00409162" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam19Pat24" "00409163" "" "" "" "2" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 2 affected (2M)" "M" "" "Belgium" "" "0" "" "" "" "Fam20Pat25" "00409164" "" "" "00409163" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "M" "" "Belgium" "" "0" "" "" "" "Fam20Pat26" "00409165" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam21Pat27" "00409166" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam22Pat28" "00409167" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam23Pat29" "00409168" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam24Pat30" "00409169" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam25Pat31" "00409170" "" "" "" "2" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 2 affected (F, M)" "M" "" "Belgium" "" "0" "" "" "" "Fam26Pat32" "00409171" "" "" "00409170" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "F" "" "Belgium" "" "0" "" "" "" "Fam26Pat33" "00409172" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam27Pat34" "00409173" "" "" "" "2" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 2 affected (2M)" "M" "" "Belgium" "" "0" "" "" "" "Fam28Pat35" "00409174" "" "" "00409173" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "M" "" "Belgium" "" "0" "" "" "" "Fam28Pat36" "00409175" "" "" "" "2" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 2 affected (2M)" "M" "" "Belgium" "" "0" "" "" "" "Fam29Pat37" "00409176" "" "" "00409175" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "M" "" "Belgium" "" "0" "" "" "" "Fam29Pat38" "00409177" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam30Pat39" "00409178" "" "" "" "2" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 2 affected (F, M)" "F" "" "Belgium" "" "0" "" "" "" "Fam31Pat40" "00409179" "" "" "00409178" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "M" "" "Belgium" "" "0" "" "" "" "Fam31Pat41" "00409180" "" "" "" "2" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 2 affected (F, M)" "M" "" "Belgium" "" "0" "" "" "" "Fam32Pat42" "00409181" "" "" "00409180" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "F" "" "Belgium" "" "0" "" "" "" "Fam32Pat43" "00409182" "" "" "" "2" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 2 affected (F, M)" "M" "" "Belgium" "" "0" "" "" "" "Fam33Pat44" "00409183" "" "" "00409182" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "F" "" "Belgium" "" "0" "" "" "" "Fam33Pat45" "00409184" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam34Pat46" "00409185" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam35Pat47" "00409186" "" "" "" "3" "" "00006" "{PMID:Nollet 2022:33820832}" "family, 3 affected (2F, M)" "M" "" "Belgium" "" "0" "" "" "" "Fam36Pat48" "00409187" "" "" "00409186" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "F" "" "Belgium" "" "0" "" "" "" "Fam36Pat49" "00409188" "" "" "00409186" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "sib" "F" "" "Belgium" "" "0" "" "" "" "Fam36Pat50" "00409189" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam37Pat51" "00409190" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam38Pat52" "00409191" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam39Pat53" "00409192" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "M" "" "Belgium" "" "0" "" "" "" "Fam40Pat54" "00409193" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam41Pat55" "00409194" "" "" "" "1" "" "00006" "{PMID:Nollet 2022:33820832}" "" "F" "" "Belgium" "" "0" "" "" "" "Fam42Pat56" "00426922" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 27, individual 31" "M" "" "" "" "0" "" "" "" "27_31" "00446771" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat45" "00446772" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat46" "00447170" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-431" "00447176" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-444" "00447212" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "MISC-314" "00447410" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "USHI-86" "00447510" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-468-1" "00447511" "" "" "00447510" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "F" "" "Germany" "" "0" "" "" "" "ARRP-468-2" "00447678" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "MDS-433" "00447724" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "UD-104" "00470694" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected maternal grandmother" "F" "" "Poland" "" "0" "" "" "" "Pat55" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 877 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00050510" "00198" "00050546" "00198" "00079069" "01664" "00088257" "02035" "00088258" "02035" "00088259" "02035" "00088260" "02035" "00088261" "02035" "00088262" "02035" "00088263" "02035" "00088264" "02035" "00088265" "02035" "00088266" "02035" "00088267" "02035" "00088268" "02035" "00088269" "02035" "00088270" "02035" "00088271" "02035" "00088272" "02035" "00088273" "02035" "00088274" "02035" "00088275" "02035" "00088276" "02035" "00088277" "02035" "00088278" "02035" "00088279" "02035" "00088280" "02035" "00088281" "02035" "00088282" "02035" "00088283" "02035" "00088284" "02035" "00088285" "02035" "00088286" "02035" "00088287" "02035" "00088288" "02035" "00088289" "02035" "00088290" "02035" "00088291" "02035" "00088292" "02035" "00088293" "02035" "00088294" "02035" "00088295" "02035" "00088296" "02035" "00088297" "02035" "00088298" "02035" "00088299" "02035" "00088300" "02035" "00088301" "02035" "00088302" "02035" "00088303" "02035" "00088304" "02035" "00088305" "02035" "00088306" "02035" "00088307" "02035" "00088308" "02035" "00088309" "02035" "00088310" "02035" "00088311" "02035" "00088312" "02035" "00088313" "02035" "00088314" "02035" "00088315" "02035" "00088316" "02035" "00088317" "02035" "00088318" "02035" "00088319" "02035" "00088320" "02035" "00088321" "02035" "00088322" "02035" "00088323" "02035" "00088324" "02035" "00088325" "02035" "00088326" "02035" "00088327" "02035" "00088328" "02035" "00088329" "02035" "00088330" "02035" "00088331" "02035" "00088332" "02035" "00088333" "02035" "00088334" "02035" "00088335" "02035" "00088336" "02035" "00088337" "02035" "00088338" "02035" "00088339" "02035" "00088340" "02035" "00088341" "02035" "00088342" "02035" "00088343" "02035" "00088344" "02035" "00088345" "02035" "00088346" "02035" "00088347" "02035" "00088348" "02035" "00088349" "02035" "00088350" "02035" "00088351" "02035" "00088352" "02035" "00088353" "02035" "00088354" "02035" "00088355" "02035" "00088356" "02035" "00088357" "02035" "00088358" "02035" "00088359" "02035" "00088360" "02035" "00088361" "02035" "00088362" "02035" "00088363" "02035" "00088364" "02035" "00088365" "02035" "00088366" "02035" "00088367" "02035" "00088368" "02035" "00088369" "02035" "00088370" "02035" "00088371" "02035" "00088372" "02035" "00088373" "02035" "00088374" "02035" "00088375" "02035" "00088376" "02035" "00088377" "02035" "00088378" "02035" "00088379" "02035" "00088380" "02035" "00088381" "02035" "00088382" "02035" "00088383" "02035" "00088384" "02035" "00088385" "02035" "00088386" "02035" "00088387" "02035" "00088388" "02035" "00088389" "02035" "00088390" "02035" "00088391" "00198" "00088392" "02035" "00088393" "02035" "00088394" "02035" "00088395" "02035" "00088396" "02035" "00088397" "02035" "00088398" "02035" "00088399" "02035" "00088400" "02035" "00088401" "02035" "00088402" "02035" "00088403" "02035" "00088404" "02035" "00088405" "02035" "00088406" "02035" "00088407" "02035" "00088408" "02035" "00088409" "02035" "00088410" "02035" "00088411" "02035" "00088412" "02035" "00088413" "02035" "00088414" "02035" "00088415" "02035" "00088416" "02035" "00088417" "02035" "00088418" "02035" "00088419" "02035" "00088420" "02035" "00088421" "02035" "00088422" "02035" "00088423" "02035" "00088424" "02035" "00088425" "02035" "00088426" "02035" "00088427" "02035" "00088428" "02035" "00088429" "02035" "00088430" "02035" "00088431" "02035" "00088432" "02035" "00088433" "02035" "00088434" "02035" "00088435" "02035" "00088436" "02035" "00088437" "02035" "00088438" "02035" "00088439" "02035" "00088440" "02035" "00088441" "02035" "00088442" "02035" "00088443" "02035" "00088444" "02035" "00088445" "02035" "00088446" "02035" "00088447" "02035" "00088448" "02035" "00088449" "02035" "00088450" "02035" "00088451" "02035" "00088452" "02035" "00088453" "02035" "00088454" "02035" "00088455" "02035" "00088456" "02035" "00088457" "02035" "00088458" "02035" "00088459" "02035" "00088460" "02035" "00088461" "02035" "00088462" "02035" "00088463" "02035" "00088464" "02035" "00088465" "02035" "00088466" "02035" "00088467" "02035" "00088468" "02035" "00088469" "02035" "00088470" "02035" "00088471" "02035" "00088472" "02035" "00088473" "02035" "00088474" "02035" "00088475" "02035" "00088476" "02035" "00088477" "02035" "00088478" "02035" "00088479" "02035" "00088480" "02035" "00088481" "02035" "00088482" "00000" "00088483" "00198" "00088484" "00198" "00088485" "00198" "00088486" "00198" "00088487" "02035" "00088488" "02035" "00088489" "02035" "00088490" "02035" "00088491" "00198" "00088492" "00198" "00088493" "00198" "00088494" "00198" "00088495" "00198" "00088496" "00198" "00088497" "00198" "00088498" "00198" "00088499" "00198" "00088500" "00198" "00088501" "00198" "00088502" "00198" "00088503" "00198" "00088504" "00198" "00088505" "00198" "00088506" "00198" "00088507" "00198" "00088508" "00198" "00088509" "00198" "00088510" "00198" "00088511" "00198" "00088512" "00198" "00088513" "00198" "00088514" "00198" "00088515" "00198" "00088516" "00198" "00088517" "00198" "00088518" "00198" "00088519" "00198" "00088520" "00198" "00088521" "00198" "00088522" "00198" "00088523" "00198" "00088524" "00198" "00088525" "00198" "00088526" "00198" "00088527" "00198" "00088528" "00198" "00088529" "00198" "00088530" "00198" "00088531" "00198" "00088532" "00198" "00088533" "00198" "00088534" "00198" "00088535" "00198" "00088536" "00198" "00088537" "00198" "00088538" "00198" "00088539" "00198" "00088540" "00198" "00088541" "00198" "00088542" "00198" "00088543" "00198" "00088544" "00198" "00088545" "02035" "00088546" "00198" "00088548" "02035" "00088549" "00198" "00088550" "00198" "00088551" "00198" "00088552" "00198" "00088553" "00198" "00088554" "00198" "00088555" "00198" "00088556" "00198" "00088557" "00198" "00088558" "00198" "00088559" "00198" "00088560" "00198" "00088561" "00198" "00088562" "00198" "00088563" "00198" "00088564" "00198" "00088565" "00198" "00088566" "00198" "00088567" "00198" "00088568" "00198" "00088569" "00198" "00088570" "00198" "00088571" "00198" "00088572" "00198" "00088573" "00198" "00088574" "00198" "00088575" "00198" "00088576" "00198" "00088577" "00198" "00088578" "00198" "00088579" "00198" "00088580" "00198" "00088581" "00198" "00088582" "00198" "00088583" "00198" "00088584" "00198" "00088585" "00198" "00088586" "00198" "00088587" "00198" "00088588" "00198" "00088589" "00198" "00088590" "00198" "00088591" "00198" "00088592" "00198" "00088593" "00198" "00088594" "00198" "00088595" "00198" "00088596" "00198" "00088597" "00198" "00088598" "00198" "00088599" "00198" "00088600" "00198" "00088601" "00198" "00088602" "00198" "00088603" "00198" "00088604" "00198" "00088605" "00198" "00088606" "00198" "00088607" "00198" "00088608" "00198" "00088609" "00198" "00088610" "00198" "00088611" "00198" "00088612" "00198" "00088613" "00198" "00088614" "00198" "00088615" "00198" "00088616" "00198" "00088617" "00198" "00088618" "00198" "00088619" "00198" "00088620" "00198" "00088621" "00198" "00088622" "00198" "00088623" "00198" "00088624" "00198" "00088625" "00198" "00088626" "00198" "00088627" "00198" "00088628" "00198" "00088629" "00198" "00088630" "00198" "00088631" "00198" "00088632" "00198" "00088633" "00198" "00088634" "00198" "00088635" "00198" "00088636" "00198" "00088637" "00198" "00088638" "00198" "00088639" "00198" "00088640" "00198" "00088641" "00198" "00088642" "00198" "00088643" "00198" "00088644" "00198" "00088645" "00198" "00088646" "00198" "00088647" "00198" "00088648" "00198" "00088649" "00198" "00088650" "00198" "00088651" "00198" "00088652" "00198" "00088653" "00198" "00088654" "00198" "00088655" "00198" "00088656" "00198" "00088657" "00198" "00088658" "00198" "00088659" "00198" "00088660" "00198" "00088661" "00198" "00088662" "00198" "00088663" "00198" "00088664" "00198" "00088665" "00198" "00088666" "00198" "00088667" "00198" "00088668" "00198" "00088669" "00198" "00088670" "00198" "00088671" "00198" "00088672" "00198" "00088673" "00198" "00088674" "00198" "00088675" "00198" "00088676" "00198" "00088677" "00198" "00088678" "00198" "00088679" "00198" "00088680" "00198" "00088681" "00198" "00088682" "00198" "00088683" "00198" "00088684" "00198" "00088685" "00198" "00088686" "00198" "00088687" "00198" "00088688" "00198" "00088689" "00198" "00088690" "00198" "00088691" "00198" "00088692" "00198" "00088693" "00198" "00088694" "00198" "00088695" "00198" "00088696" "00198" "00088697" "00198" "00088698" "00198" "00088699" "00198" "00088700" "00198" "00088701" "00198" "00088702" "00198" "00088703" "00198" "00088704" "00198" "00088705" "00198" "00088706" "00198" "00088707" "00198" "00088708" "00198" "00088709" "00198" "00088710" "00198" "00088711" "00198" "00088712" "00198" "00088713" "00198" "00088714" "00198" "00088715" "00198" "00088716" "00198" "00088717" "00198" "00088718" "00198" "00088719" "00198" "00088720" "00198" "00088721" "00198" "00088722" "00198" "00088723" "00198" "00088724" "00198" "00088725" "00198" "00088726" "00198" "00088727" "00198" "00088728" "00198" "00088729" "00198" "00088730" "00198" "00088731" "00198" "00088732" "02035" "00088733" "00198" "00088734" "00198" "00088735" "00198" "00088736" "00198" "00088737" "00198" "00088738" "00198" "00088739" "00198" "00088740" "00198" "00088741" "00198" "00088742" "00198" "00088743" "00198" "00088744" "00198" "00088745" "00198" "00088746" "00198" "00088747" "00198" "00088748" "00198" "00088749" "00198" "00088750" "00198" "00088751" "00198" "00088752" "00198" "00088753" "00198" "00088754" "00198" "00088755" "00198" "00088756" "00198" "00088757" "00198" "00088758" "00198" "00088759" "00198" "00088760" "00198" "00088761" "00198" "00088762" "02035" "00088763" "00198" "00088764" "00198" "00088765" "00198" "00088766" "00198" "00088767" "00198" "00088768" "00198" "00088769" "00198" "00088770" "00198" "00088771" "00198" "00088772" "00198" "00088773" "00198" "00088774" "02035" "00088775" "02035" "00088776" "02035" "00088777" "02035" "00088778" "02035" "00088779" "02035" "00088780" "02035" "00088781" "02035" "00088782" "02035" "00088783" "02035" "00088784" "02035" "00088785" "02035" "00088786" "02035" "00088787" "02035" "00088788" "00000" "00088789" "00000" "00088790" "00000" "00088791" "00000" "00088792" "00000" "00088793" "00000" "00088794" "00000" "00088795" "00000" "00088796" "00000" "00088797" "00000" "00088798" "00000" "00088799" "00000" "00088800" "00000" "00088801" "00000" "00088802" "00000" "00088803" "00000" "00088804" "00000" "00088805" "00000" "00088806" "00000" "00088807" "00000" "00088808" "00000" "00088809" "00000" "00088810" "00000" "00088811" "00000" "00088812" "00000" "00088813" "00000" "00088814" "00000" "00088815" "00000" "00088816" "00000" "00088817" "00000" "00088818" "00000" "00088819" "00000" "00088820" "00000" "00088821" "00000" "00088822" "00000" "00088823" "00000" "00088824" "00000" "00088825" "00000" "00088826" "00000" "00088827" "00000" "00088828" "00000" "00088829" "00000" "00088830" "00000" "00088831" "00000" "00088832" "00000" "00088833" "00000" "00088834" "00000" "00088835" "00000" "00088836" "00000" "00088837" "00000" "00088838" "00000" "00088839" "00000" "00088840" "00000" "00088841" "00000" "00088842" "00000" "00088843" "00000" "00088844" "00000" "00088845" "00000" "00088846" "00000" "00088847" "00000" "00088848" "00000" "00088849" "00000" "00088850" "00000" "00088851" "00000" "00088852" "00000" "00088853" "00000" "00088854" "00000" "00088855" "00000" "00088856" "00000" "00088857" "00000" "00088858" "00000" "00088859" "00000" "00088860" "00000" "00088861" "00000" "00088862" "00000" "00088863" "00000" "00088865" "02035" "00088866" "02035" "00088867" "02035" "00088868" "02035" "00088869" "02035" "00088871" "02035" "00088872" "02035" "00088873" "02035" "00088874" "02035" "00088875" "02035" "00088876" "02035" "00088877" "02035" "00088878" "02035" "00088879" "02035" "00088880" "02035" "00088881" "02035" "00088882" "02035" "00088883" "02035" "00088884" "02035" "00088885" "02035" "00088886" "02035" "00088887" "02035" "00088888" "02035" "00088889" "02035" "00088890" "02035" "00088891" "02035" "00088892" "02035" "00088893" "02035" "00088894" "02035" "00088895" "02035" "00088896" "02035" "00088897" "02035" "00088898" "02035" "00088899" "02035" "00088900" "02035" "00088901" "02035" "00088902" "02035" "00088903" "02035" "00088904" "02035" "00088905" "02035" "00088906" "02035" "00088907" "02035" "00088908" "02035" "00088909" "02035" "00088910" "02035" "00088911" "02035" "00088912" "02035" "00088913" "02035" "00088914" "02035" "00088915" "02035" "00088916" "02035" "00088917" "02035" "00088918" "02035" "00088919" "02035" "00088920" "02035" "00088921" "02035" "00088922" "02035" "00088923" "02035" "00088924" "02035" "00088925" "02035" "00088926" "02035" "00088927" "02035" "00088928" "02035" "00088929" "02035" "00088930" "02035" "00088931" "02035" "00088932" "02035" "00088933" "02035" "00088934" "02035" "00088935" "02035" "00088936" "02035" "00088937" "02035" "00088938" "02035" "00088939" "02035" "00088940" "02035" "00088941" "02035" "00088942" "02035" "00100526" "02035" "00100527" "02035" "00100528" "02035" "00100529" "02035" "00100530" "02035" "00100531" "02035" "00100532" "02035" "00100533" "02035" "00100534" "02035" "00100535" "02035" "00100536" "02035" "00100537" "02035" "00100538" "02035" "00100539" "02035" "00100540" "02035" "00100541" "02035" "00100542" "02035" "00100543" "02035" "00100544" "02035" "00100545" "02035" "00100546" "02035" "00100547" "02035" "00100548" "02035" "00100549" "02035" "00100550" "02035" "00100551" "02035" "00100552" "02035" "00100553" "02035" "00100554" "02035" "00100555" "02035" "00100556" "02035" "00100557" "02035" "00100558" "02035" "00100559" "02035" "00100560" "02035" "00100561" "02035" "00100562" "02035" "00100563" "02035" "00100564" "02035" "00100565" "02035" "00100566" "02035" "00100567" "02035" "00100568" "02035" "00100569" "02035" "00100570" "02035" "00100571" "02035" "00100572" "02035" "00100573" "02035" "00100574" "02035" "00100575" "02035" "00100576" "02035" "00100577" "02035" "00100578" "02035" "00100579" "02035" "00100580" "02035" "00100581" "02035" "00100582" "02035" "00100583" "02035" "00100584" "02035" "00100585" "02035" "00100586" "02035" "00100587" "02035" "00100588" "02035" "00100589" "02035" "00100590" "02035" "00100591" "02035" "00100592" "02035" "00100593" "02035" "00100594" "02035" "00100595" "02035" "00100596" "02035" "00100597" "02035" "00100598" "02035" "00100602" "00198" "00100603" "00198" "00100604" "00198" "00100605" "00198" "00100606" "00198" "00291387" "00198" "00291389" "00198" "00291390" "00198" "00291391" "00198" "00291392" "00198" "00291393" "00198" "00291394" "00198" "00295460" "00198" "00295668" "00198" "00299641" "04214" "00299700" "00198" "00304499" "00198" "00304500" "00198" "00304501" "00198" "00304502" "00198" "00304503" "00198" "00308922" "04214" "00308923" "04214" "00308924" "04214" "00308925" "04214" "00308926" "04214" "00328107" "04214" "00331737" "04214" "00334273" "04214" "00334274" "04214" "00375267" "05415" "00375410" "04214" "00375426" "04214" "00375433" "04214" "00380116" "04214" "00380117" "04214" "00381809" "04214" "00386781" "04214" "00390156" "04214" "00390157" "04214" "00390768" "04214" "00390800" "04214" "00390801" "04214" "00390803" "04214" "00390804" "04214" "00390805" "04214" "00394372" "04214" "00394799" "04214" "00394804" "04214" "00409139" "00198" "00409140" "00198" "00409141" "00198" "00409142" "00198" "00409143" "00198" "00409144" "00198" "00409145" "00198" "00409146" "00198" "00409147" "00198" "00409148" "00198" "00409149" "00198" "00409150" "00198" "00409151" "00198" "00409152" "00198" "00409153" "00198" "00409154" "00198" "00409155" "00198" "00409156" "00198" "00409157" "00198" "00409158" "00198" "00409159" "00198" "00409160" "00198" "00409161" "00198" "00409162" "00198" "00409163" "00198" "00409164" "00198" "00409165" "00198" "00409166" "00198" "00409167" "00198" "00409168" "00198" "00409169" "00198" "00409170" "00198" "00409171" "00198" "00409172" "00198" "00409173" "00198" "00409174" "00198" "00409175" "00198" "00409176" "00198" "00409177" "00198" "00409178" "00198" "00409179" "00198" "00409180" "00198" "00409181" "00198" "00409182" "00198" "00409183" "00198" "00409184" "00198" "00409185" "00198" "00409186" "00198" "00409187" "00198" "00409188" "00198" "00409189" "00198" "00409190" "00198" "00409191" "00198" "00409192" "00198" "00409193" "00198" "00409194" "00198" "00426922" "04214" "00446771" "04173" "00446772" "04173" "00447170" "00198" "00447176" "00198" "00447212" "00198" "00447410" "00198" "00447510" "00198" "00447511" "00198" "00447678" "00198" "00447724" "00198" "00470694" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01157, 01533, 01664, 02035, 03657, 04173, 04214, 05415, 07210 ## Count = 776 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037122" "00198" "00050510" "00006" "Isolated (sporadic)" "" "polydactyly (feet), cerebellar hypoplasia, feeding difficulties in infancy, abnormality of the nervous system, enlarged cisterna magna, global developmental delay, dandy-walker malformation, neonatal alloimmune thrombocytopenia, abnormality of the penis, abnormality of the tongue, upslanted palpebral fissure, epicanthus, abnormality of the lip, abnormality of the ear, abnormality of the umbilicus, abnormality of eye movement" "" "" "" "" "" "" "" "" "" "" "" "0000037158" "00198" "00050546" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, short stature, clubbing, feeding difficulties in infancy, iga deficiency, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000058828" "01664" "00079069" "01675" "Familial, autosomal recessive" "2y9m" "calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; hypertension, cardiomegaly, pulmonary congestion, LV hypertrophy, dilated ventricels,; no bisphosphonates; no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000067732" "02035" "00088257" "00240" "Familial, autosomal recessive" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067733" "02035" "00088258" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067734" "02035" "00088259" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067735" "02035" "00088260" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067736" "02035" "00088261" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); ;gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067737" "02035" "00088262" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067738" "02035" "00088263" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067739" "02035" "00088264" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067740" "02035" "00088265" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms-V1 chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067741" "02035" "00088266" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067742" "02035" "00088267" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring-G2-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067743" "02035" "00088268" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); heart attack" "" "" "" "" "" "" "" "" "" "" "" "0000067744" "02035" "00088269" "00240" "Unknown" "" "pseudoxanthoma elasticum; no skin symptomseye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067745" "02035" "00088270" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067746" "02035" "00088271" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067747" "02035" "00088272" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067748" "02035" "00088273" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067749" "02035" "00088274" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067750" "02035" "00088275" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067751" "02035" "00088276" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067752" "02035" "00088277" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067753" "02035" "00088278" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067754" "02035" "00088279" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067755" "02035" "00088280" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgeryheart attack" "" "" "" "" "" "" "" "" "" "" "" "0000067756" "02035" "00088281" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067757" "02035" "00088282" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye peau d\'orange changes; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067758" "02035" "00088283" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067759" "02035" "00088284" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); no eye symptoms; no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067760" "02035" "00088285" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067761" "02035" "00088286" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067762" "02035" "00088287" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067763" "02035" "00088288" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067764" "02035" "00088289" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067765" "02035" "00088290" "00240" "Unknown" "" "pseudoxanthoma elasticum; no skin symptomseye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067766" "02035" "00088291" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosed; vascular surgery; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067767" "02035" "00088292" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgeryheart attack" "" "" "" "" "" "" "" "" "" "" "" "0000067768" "02035" "00088293" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067769" "02035" "00088294" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067770" "02035" "00088295" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067771" "02035" "00088296" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067772" "02035" "00088297" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067773" "02035" "00088298" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067774" "02035" "00088299" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067775" "02035" "00088300" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067776" "02035" "00088301" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067777" "02035" "00088302" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067778" "02035" "00088303" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067779" "02035" "00088304" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067780" "02035" "00088305" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067781" "02035" "00088306" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067782" "02035" "00088307" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067783" "02035" "00088308" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067784" "02035" "00088309" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067785" "02035" "00088310" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067786" "02035" "00088311" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067787" "02035" "00088312" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067788" "02035" "00088313" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067789" "02035" "00088314" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067790" "02035" "00088315" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067791" "02035" "00088316" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067792" "02035" "00088317" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067793" "02035" "00088318" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067794" "02035" "00088319" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067795" "02035" "00088320" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye peau d\'orange changes; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067796" "02035" "00088321" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067797" "02035" "00088322" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067798" "02035" "00088323" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067799" "02035" "00088324" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067800" "02035" "00088325" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptomsvascular surgery chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067801" "02035" "00088326" "00240" "Unknown" "" "pseudoxanthoma elasticum; no skin symptomsangioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067802" "02035" "00088327" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067803" "02035" "00088328" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067804" "02035" "00088329" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosed; vascular surgery; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067805" "02035" "00088330" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosed; vascular surgeryheart attack" "" "" "" "" "" "" "" "" "" "" "" "0000067806" "02035" "00088331" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067807" "02035" "00088332" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067808" "02035" "00088333" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067809" "02035" "00088334" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067810" "02035" "00088335" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067811" "02035" "00088336" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067812" "02035" "00088337" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067813" "02035" "00088338" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); ;gastrointestinal bleeding must be diagnosed; vascular surgery chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067814" "02035" "00088339" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067815" "02035" "00088340" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067816" "02035" "00088341" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067817" "02035" "00088342" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067818" "02035" "00088343" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067819" "02035" "00088344" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067820" "02035" "00088345" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067821" "02035" "00088346" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067822" "02035" "00088347" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067823" "02035" "00088348" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgeryheart attack" "" "" "" "" "" "" "" "" "" "" "" "0000067824" "02035" "00088349" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067825" "02035" "00088350" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptomsvascular surgery; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067826" "02035" "00088351" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067827" "02035" "00088352" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067828" "02035" "00088353" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067829" "02035" "00088354" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067830" "02035" "00088355" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067831" "02035" "00088356" "00240" "Unknown" "" "pseudoxanthoma elasticum; no skin symptoms; no eye symptoms; no gastrointestinal symptoms; no vascular symptomsheart attack (HP:0001658)" "" "" "" "" "" "" "" "" "" "" "" "0000067832" "02035" "00088357" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067833" "02035" "00088358" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067834" "02035" "00088359" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067835" "02035" "00088360" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms-V1 chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067836" "02035" "00088361" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); -; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067837" "02035" "00088362" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067838" "02035" "00088363" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067839" "02035" "00088364" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067840" "02035" "00088365" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067841" "02035" "00088366" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosed; no vascular symptoms chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067842" "02035" "00088367" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067843" "02035" "00088368" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067844" "02035" "00088369" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067845" "02035" "00088370" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067846" "02035" "00088371" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067847" "02035" "00088372" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067848" "02035" "00088373" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067849" "02035" "00088374" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067850" "02035" "00088375" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067851" "02035" "00088376" "00240" "Unknown" "" "pseudoxanthoma elasticum; eye bleeding and/or scarring" "" "" "" "" "" "" "" "" "" "" "" "0000067852" "02035" "00088377" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067853" "02035" "00088378" "00240" "Unknown" "" "pseudoxanthoma elasticum; no skin symptomseye bleeding and/or scarring-G2; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067854" "02035" "00088379" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067855" "02035" "00088380" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; no vascular symptoms chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067856" "02035" "00088381" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067857" "02035" "00088382" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067858" "02035" "00088383" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067859" "02035" "00088384" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067860" "02035" "00088385" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067861" "02035" "00088386" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067862" "02035" "00088387" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosed; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067863" "02035" "00088388" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067864" "02035" "00088389" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067865" "02035" "00088390" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067866" "00198" "00088391" "00240" "Unknown" "" "pseudoxanthoma elasticumskin plaques of coalesced papuleseye peau d\'orange changesno gastrointestinal symptomsintermittent claudication (HP:0004417) chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067867" "02035" "00088392" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067868" "02035" "00088393" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067869" "02035" "00088394" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067870" "02035" "00088395" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067871" "02035" "00088396" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosed; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067872" "02035" "00088397" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067873" "02035" "00088398" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067874" "02035" "00088399" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067875" "02035" "00088400" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067876" "02035" "00088401" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067877" "02035" "00088402" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067878" "02035" "00088403" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067879" "02035" "00088404" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067880" "02035" "00088405" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067881" "02035" "00088406" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067882" "02035" "00088407" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye peau d\'orange changes; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067883" "02035" "00088408" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067884" "02035" "00088409" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067885" "02035" "00088410" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); heart attack (HP:0001658)" "" "" "" "" "" "" "" "" "" "" "" "0000067886" "02035" "00088411" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); heart attack (HP:0001658)" "" "" "" "" "" "" "" "" "" "" "" "0000067887" "02035" "00088412" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye peau d\'orange changes; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067888" "02035" "00088413" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067889" "02035" "00088414" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067890" "02035" "00088415" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067891" "02035" "00088416" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067892" "02035" "00088417" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067893" "02035" "00088418" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067894" "02035" "00088419" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; gastrointestinal bleeding must be diagnosed; vascular surgery; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067895" "02035" "00088420" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067896" "02035" "00088421" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067897" "02035" "00088422" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); no eye symptoms; no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067898" "02035" "00088423" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms-V1 chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067899" "02035" "00088424" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067900" "02035" "00088425" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye peau d\'orange changes; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067901" "02035" "00088426" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067902" "02035" "00088427" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067903" "02035" "00088428" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067904" "02035" "00088429" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067905" "02035" "00088430" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067906" "02035" "00088431" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgeryheart attack" "" "" "" "" "" "" "" "" "" "" "" "0000067907" "02035" "00088432" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067908" "02035" "00088433" "00240" "Unknown" "" "pseudoxanthoma elasticum; no skin symptomseye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067909" "02035" "00088434" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067910" "02035" "00088435" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067911" "02035" "00088436" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptomsvascular surgery; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067912" "02035" "00088437" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067913" "02035" "00088438" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067914" "02035" "00088439" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067915" "02035" "00088440" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067916" "02035" "00088441" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye peau d\'orange changes; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067917" "02035" "00088442" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067918" "02035" "00088443" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067919" "02035" "00088444" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067920" "02035" "00088445" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067921" "02035" "00088446" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067922" "02035" "00088447" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067923" "02035" "00088448" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067924" "02035" "00088449" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067925" "02035" "00088450" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067926" "02035" "00088451" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067927" "02035" "00088452" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067928" "02035" "00088453" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067929" "02035" "00088454" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067930" "02035" "00088455" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067931" "02035" "00088456" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptomsheart attack (HP:0001658)" "" "" "" "" "" "" "" "" "" "" "" "0000067932" "02035" "00088457" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067933" "02035" "00088458" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067934" "02035" "00088459" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067935" "02035" "00088460" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067936" "02035" "00088461" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067937" "02035" "00088462" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; gastrointestinal bleeding must be diagnosedintermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067938" "02035" "00088463" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067939" "02035" "00088464" "00240" "Unknown" "" "pseudoxanthoma elasticum; no skin symptomseye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067940" "02035" "00088465" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067941" "02035" "00088466" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067942" "02035" "00088467" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms-V1 chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067943" "02035" "00088468" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067944" "02035" "00088469" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms-V1 chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067945" "02035" "00088470" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptomsvascular surgery chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067946" "02035" "00088471" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067947" "02035" "00088472" "00240" "Unknown" "" "pseudoxanthoma elasticum; lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067948" "02035" "00088473" "00240" "Unknown" "" "pseudoxanthoma elasticum; papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067949" "02035" "00088474" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067950" "02035" "00088475" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067951" "02035" "00088476" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067952" "02035" "00088477" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms-V1; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000067953" "02035" "00088478" "00240" "Unknown" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); heart attack (HP:0001658)" "" "" "" "" "" "" "" "" "" "" "" "0000067954" "02035" "00088479" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067955" "02035" "00088480" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067956" "02035" "00088481" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067957" "00198" "00088483" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067958" "00198" "00088484" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067959" "00198" "00088485" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067960" "00198" "00088486" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067965" "00198" "00088491" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067966" "00198" "00088492" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067967" "00198" "00088493" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067968" "00198" "00088494" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067969" "00198" "00088495" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067970" "00198" "00088496" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067971" "00198" "00088497" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067972" "00198" "00088498" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067973" "00198" "00088499" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067974" "00198" "00088500" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067975" "00198" "00088501" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067976" "00198" "00088502" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067977" "00198" "00088503" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067978" "00198" "00088504" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067979" "00198" "00088505" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067980" "00198" "00088506" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067981" "00198" "00088507" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067982" "00198" "00088508" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067983" "00198" "00088509" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067984" "00198" "00088510" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067985" "00198" "00088511" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067986" "00198" "00088512" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067987" "00198" "00088513" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067988" "00198" "00088514" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067989" "00198" "00088515" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067990" "00198" "00088516" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067991" "00198" "00088517" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067992" "00198" "00088518" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067993" "00198" "00088519" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067994" "00198" "00088520" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067995" "00198" "00088521" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067996" "00198" "00088522" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067997" "00198" "00088523" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067998" "00198" "00088524" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000067999" "00198" "00088525" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068000" "00198" "00088526" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068001" "00198" "00088527" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068002" "00198" "00088528" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068003" "00198" "00088529" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068004" "00198" "00088530" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068005" "00198" "00088531" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068006" "00198" "00088532" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068007" "00198" "00088533" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068008" "00198" "00088534" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068009" "00198" "00088535" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068010" "00198" "00088536" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068011" "00198" "00088537" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068012" "00198" "00088538" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068020" "00198" "00088546" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068023" "00198" "00088549" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068024" "00198" "00088550" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068025" "00198" "00088551" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068026" "00198" "00088552" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068027" "00198" "00088553" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068028" "00198" "00088554" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068029" "00198" "00088555" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068030" "00198" "00088556" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068031" "00198" "00088557" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068032" "00198" "00088558" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068033" "00198" "00088559" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068034" "00198" "00088560" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068035" "00198" "00088561" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068036" "00198" "00088562" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068037" "00198" "00088563" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068038" "00198" "00088564" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068039" "00198" "00088565" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068040" "00198" "00088566" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068041" "00198" "00088567" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068042" "00198" "00088568" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068043" "00198" "00088569" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068044" "00198" "00088570" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068045" "00198" "00088571" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068046" "00198" "00088572" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068047" "00198" "00088573" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068048" "00198" "00088574" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068049" "00198" "00088575" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068050" "00198" "00088576" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068051" "00198" "00088577" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068052" "00198" "00088578" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068053" "00198" "00088579" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068054" "00198" "00088580" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068055" "00198" "00088581" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068056" "00198" "00088582" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068057" "00198" "00088583" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068058" "00198" "00088584" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068059" "00198" "00088585" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068060" "00198" "00088586" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068061" "00198" "00088587" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068062" "00198" "00088588" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068063" "00198" "00088589" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068064" "00198" "00088590" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068065" "00198" "00088591" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068066" "00198" "00088592" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068067" "00198" "00088593" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068068" "00198" "00088594" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068069" "00198" "00088595" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068070" "00198" "00088596" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068071" "00198" "00088597" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068072" "00198" "00088598" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068073" "00198" "00088599" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068074" "00198" "00088600" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068075" "00198" "00088601" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068076" "00198" "00088602" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068077" "00198" "00088603" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068078" "00198" "00088604" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068079" "00198" "00088605" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068080" "00198" "00088606" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068081" "00198" "00088607" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068082" "00198" "00088608" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068083" "00198" "00088609" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068084" "00198" "00088610" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068085" "00198" "00088611" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068086" "00198" "00088612" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068087" "00198" "00088613" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068088" "00198" "00088614" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068089" "00198" "00088615" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068090" "00198" "00088616" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068091" "00198" "00088617" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068092" "00198" "00088618" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068093" "00198" "00088619" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068094" "00198" "00088620" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068095" "00198" "00088621" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068096" "00198" "00088622" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068097" "00198" "00088623" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068098" "00198" "00088624" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068099" "00198" "00088625" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068100" "00198" "00088626" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068101" "00198" "00088627" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068102" "00198" "00088628" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068103" "00198" "00088629" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068104" "00198" "00088630" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068105" "00198" "00088631" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068106" "00198" "00088632" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068107" "00198" "00088633" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068108" "00198" "00088634" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068109" "00198" "00088635" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068110" "00198" "00088636" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068111" "00198" "00088637" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068112" "00198" "00088638" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068113" "00198" "00088639" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068114" "00198" "00088640" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068115" "00198" "00088641" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068116" "00198" "00088642" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068117" "00198" "00088643" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068118" "00198" "00088644" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068119" "00198" "00088645" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068120" "00198" "00088646" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068121" "00198" "00088647" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068122" "00198" "00088648" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068123" "00198" "00088649" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068124" "00198" "00088650" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068125" "00198" "00088651" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068126" "00198" "00088652" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068127" "00198" "00088653" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068128" "00198" "00088654" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068129" "00198" "00088655" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068130" "00198" "00088656" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068131" "00198" "00088657" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068132" "00198" "00088658" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068133" "00198" "00088659" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068134" "00198" "00088660" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068135" "00198" "00088661" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068136" "00198" "00088662" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068137" "00198" "00088663" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068138" "00198" "00088664" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068139" "00198" "00088665" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068140" "00198" "00088666" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068141" "00198" "00088667" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068142" "00198" "00088668" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068143" "00198" "00088669" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068144" "00198" "00088670" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068145" "00198" "00088671" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068146" "00198" "00088672" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068147" "00198" "00088673" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068148" "00198" "00088674" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068149" "00198" "00088675" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068150" "00198" "00088676" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068151" "00198" "00088677" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068152" "00198" "00088678" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068153" "00198" "00088679" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068154" "00198" "00088680" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068155" "00198" "00088681" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068156" "00198" "00088682" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068157" "00198" "00088683" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068158" "00198" "00088684" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068159" "00198" "00088685" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068160" "00198" "00088686" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068161" "00198" "00088687" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068162" "00198" "00088688" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068163" "00198" "00088689" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068164" "00198" "00088690" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068165" "00198" "00088691" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068166" "00198" "00088692" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068167" "00198" "00088693" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068168" "00198" "00088694" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068169" "00198" "00088695" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068170" "00198" "00088696" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068171" "00198" "00088697" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068172" "00198" "00088698" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068173" "00198" "00088699" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068174" "00198" "00088700" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068175" "00198" "00088701" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068176" "00198" "00088702" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068177" "00198" "00088703" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068178" "00198" "00088704" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068179" "00198" "00088705" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068180" "00198" "00088706" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068181" "00198" "00088707" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068182" "00198" "00088708" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068183" "00198" "00088709" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068184" "00198" "00088710" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068185" "00198" "00088711" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068186" "00198" "00088712" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068187" "00198" "00088713" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068188" "00198" "00088714" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068189" "00198" "00088715" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068190" "00198" "00088716" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068191" "00198" "00088717" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068192" "00198" "00088718" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068193" "00198" "00088719" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068194" "00198" "00088720" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068195" "00198" "00088721" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068196" "00198" "00088722" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068197" "00198" "00088723" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068198" "00198" "00088724" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068199" "00198" "00088725" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068200" "00198" "00088726" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068201" "00198" "00088727" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068202" "00198" "00088728" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068203" "00198" "00088729" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068204" "00198" "00088730" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068205" "00198" "00088731" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068207" "00198" "00088733" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068208" "00198" "00088734" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068209" "00198" "00088735" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068210" "00198" "00088736" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068211" "00198" "00088737" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068212" "00198" "00088738" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068213" "00198" "00088739" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068214" "00198" "00088740" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068215" "00198" "00088741" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068216" "00198" "00088742" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068217" "00198" "00088743" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068218" "00198" "00088744" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068219" "00198" "00088745" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068220" "00198" "00088746" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068221" "00198" "00088747" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068222" "00198" "00088748" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068223" "00198" "00088749" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068224" "00198" "00088750" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068225" "00198" "00088751" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068226" "00198" "00088752" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068227" "00198" "00088753" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068228" "00198" "00088754" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068229" "00198" "00088755" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068230" "00198" "00088756" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068231" "00198" "00088757" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068232" "00198" "00088758" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068233" "00198" "00088759" "00240" "Unknown" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068234" "00198" "00088760" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068235" "00198" "00088761" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068236" "02035" "00088762" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068237" "00198" "00088763" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068238" "00198" "00088764" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068239" "00198" "00088765" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068240" "00198" "00088766" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068241" "00198" "00088767" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068242" "00198" "00088768" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068243" "00198" "00088769" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068244" "00198" "00088770" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068245" "00198" "00088771" "00240" "Unknown" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068246" "00198" "00088772" "00240" "Unknown" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068247" "00198" "00088773" "00240" "Unknown" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068248" "02035" "00088774" "00240" "Familial, autosomal recessive" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068249" "02035" "00088775" "00240" "Familial, autosomal recessive" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068250" "02035" "00088776" "00240" "Familial, autosomal recessive" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068251" "02035" "00088777" "00240" "Familial, autosomal recessive" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068252" "02035" "00088778" "00240" "Familial, autosomal recessive" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068253" "02035" "00088779" "00240" "Isolated (sporadic)" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068254" "02035" "00088780" "00240" "Familial, autosomal recessive" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068255" "02035" "00088781" "00240" "Familial, autosomal recessive" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068256" "02035" "00088782" "00240" "Familial, autosomal recessive" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068257" "02035" "00088783" "00240" "Isolated (sporadic)" "" "pseudoxanthoma elasticum" "" "" "" "" "" "" "" "" "" "" "" "0000068258" "02035" "00088784" "00240" "Familial, autosomal recessive" "" "pseudoxanthoma elasticum; skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000068259" "02035" "00088785" "00240" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068260" "02035" "00088786" "00240" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068261" "02035" "00088787" "00240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068262" "02035" "00088488" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068263" "02035" "00088487" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068264" "02035" "00088489" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068265" "02035" "00088490" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068266" "02035" "00088865" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068267" "02035" "00088866" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068268" "02035" "00088867" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068270" "02035" "00088732" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068271" "02035" "00088868" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068272" "02035" "00088869" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068274" "02035" "00088871" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; vascular surgery; no caridiac symptoms; stroke (HP:0001297)" "" "" "" "" "" "" "" "" "" "" "" "0000068275" "02035" "00088872" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068276" "02035" "00088873" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068277" "02035" "00088874" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms; delayed psychomotor development (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000068278" "02035" "00088875" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms; nephrolithiasis (HP:0000787)" "" "" "" "" "" "" "" "" "" "" "" "0000068279" "02035" "00088876" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068280" "02035" "00088877" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068281" "02035" "00088878" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068282" "02035" "00088879" "01806" "Familial, autosomal recessive" "" "no skin symptoms; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068283" "02035" "00088880" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms; nephrolithiasis (HP:0000787)" "" "" "" "" "" "" "" "" "" "" "" "0000068284" "02035" "00088881" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); gastrointestinal bleeding must be diagnosed; intermittent claudication (HP:0004417); no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068285" "02035" "00088882" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms; psychatric disorder, nephrolithiasis (HP:0000787)" "" "" "" "" "" "" "" "" "" "" "" "0000068286" "02035" "00088883" "01806" "Unknown" "" "no skin symptoms; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068287" "02035" "00088884" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068288" "02035" "00088885" "01806" "Unknown" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068289" "02035" "00088886" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; heart attack (HP:0001658); nephrolithiasis (HP:0000787)" "" "" "" "" "" "" "" "" "" "" "" "0000068290" "02035" "00088887" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; weak or absent pulses; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068291" "02035" "00088888" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068292" "02035" "00088889" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; weak or absent pulses; no caridiac symptoms; asymptomatic peripheral arterial disease of the lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000068293" "02035" "00088890" "01806" "Unknown" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068294" "02035" "00088891" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no caridiac symptoms; arterial calcification (HP:0003207)" "" "" "" "" "" "" "" "" "" "" "" "0000068295" "02035" "00088892" "01806" "Unknown" "" "no skin symptoms; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068296" "02035" "00088893" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye peau d\'orange changes; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068297" "02035" "00088894" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068298" "02035" "00088895" "01806" "Familial, autosomal recessive" "" "lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068299" "02035" "00088896" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068300" "02035" "00088897" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; weak or absent pulses; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068301" "02035" "00088898" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068302" "02035" "00088899" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; heart attack (HP:0001658);" "" "" "" "" "" "" "" "" "" "" "" "0000068303" "02035" "00088900" "01806" "Unknown" "" "no skin symptoms; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068304" "02035" "00088901" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; heart attack (HP:0001658);" "" "" "" "" "" "" "" "" "" "" "" "0000068305" "02035" "00088902" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068306" "02035" "00088903" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; intermittent claudication (HP:0004417); no caridiac symptoms; nephrolithiasis (HP:0000787)" "" "" "" "" "" "" "" "" "" "" "" "0000068307" "02035" "00088904" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms; nephrolithiasis (HP:0000787)" "" "" "" "" "" "" "" "" "" "" "" "0000068308" "02035" "00088905" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068309" "02035" "00088906" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; weak or absent pulses; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068310" "02035" "00088907" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068311" "02035" "00088908" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; vascular surgery; heart attack (HP:0001658);" "" "" "" "" "" "" "" "" "" "" "" "0000068312" "02035" "00088909" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; weak or absent pulses; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068313" "02035" "00088910" "01806" "Familial, autosomal recessive" "" "no skin symptoms; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068314" "02035" "00088911" "01806" "Unknown" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068315" "02035" "00088912" "01806" "Familial, autosomal recessive" "" "lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms; MRI abnormalities: punctiform hyper T2, nephrolithiasis (HP:0000787)" "" "" "" "" "" "" "" "" "" "" "" "0000068316" "02035" "00088913" "01806" "Familial, autosomal recessive" "" "no skin symptoms; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068317" "02035" "00088914" "01806" "Familial, autosomal recessive" "" "lax and redundant skin (HP:0000973); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no caridiac symptoms; negative electrophoresis for Sickle cell anemia" "" "" "" "" "" "" "" "" "" "" "" "0000068318" "02035" "00088915" "01806" "Unknown" "" "lax and redundant skin (HP:0000973); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068319" "02035" "00088916" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068320" "02035" "00088917" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068321" "02035" "00088918" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms; peripheral neuropathy (HP:0009830), Marfan syndrome (FBN1+)" "" "" "" "" "" "" "" "" "" "" "" "0000068322" "02035" "00088919" "01806" "Unknown" "" "papules/bumps (HP:0200034); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068323" "02035" "00088920" "01806" "Familial, autosomal recessive" "" "lax and redundant skin (HP:0000973); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms; associated Heliodermy" "" "" "" "" "" "" "" "" "" "" "" "0000068324" "02035" "00088921" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068325" "02035" "00088922" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; weak or absent pulses; no caridiac symptoms; nephrolithiasis (HP:0000787)" "" "" "" "" "" "" "" "" "" "" "" "0000068326" "02035" "00088923" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; weak or absent pulses; heart attack (HP:0001658); smoking" "" "" "" "" "" "" "" "" "" "" "" "0000068327" "02035" "00088924" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068328" "02035" "00088925" "01806" "Unknown" "" "no skin symptoms; angioid streaks (HP:0001102); no gastrointestinal symptoms; vascular surgery; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068329" "02035" "00088926" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068330" "02035" "00088927" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068331" "02035" "00088928" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms; nephrolithiasis (HP:0000787)" "" "" "" "" "" "" "" "" "" "" "" "0000068332" "02035" "00088929" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms; nephrolithiasis (HP:0000787)" "" "" "" "" "" "" "" "" "" "" "" "0000068333" "02035" "00088930" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068334" "02035" "00088931" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); no eye symptoms; no gastrointestinal symptoms; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068335" "02035" "00088932" "01806" "Unknown" "" "no skin symptoms; no eye symptoms; no gastrointestinal symptoms; intermittent claudication (HP:0004417); no caridiac symptoms; calcification of large-size arteries (HP:0012455 )" "" "" "" "" "" "" "" "" "" "" "" "0000068336" "02035" "00088933" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068337" "02035" "00088934" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068338" "02035" "00088935" "01806" "Familial, autosomal recessive" "" "no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068339" "02035" "00088936" "01806" "Familial, autosomal recessive" "" "no skin symptoms; eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; no caridiac symptoms; MRI abnormalities: punctiform hyper T2" "" "" "" "" "" "" "" "" "" "" "" "0000068340" "02035" "00088937" "01806" "Unknown" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068341" "02035" "00088938" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068342" "02035" "00088939" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); angioid streaks (HP:0001102); no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068343" "02035" "00088940" "01806" "Familial, autosomal recessive" "" "papules/bumps (HP:0200034); eye peau d\'orange changes; no gastrointestinal symptoms; no vascular symptoms; no caridiac symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068344" "02035" "00088941" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms;" "" "" "" "" "" "" "" "" "" "" "" "0000068345" "02035" "00088942" "01806" "Familial, autosomal recessive" "" "skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; vascular surgery; no caridiac symptoms; stroke (HP:0001297), nephrolithiasis (HP:0000787)" "" "" "" "" "" "" "" "" "" "" "" "0000078739" "02035" "00100526" "00006" "Familial, autosomal recessive" "41y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078740" "02035" "00100527" "00006" "Familial, autosomal recessive" "64y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078741" "02035" "00100528" "00006" "Familial, autosomal recessive" "76y" "normal skin; bleeding and/or scarring eye; no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078742" "02035" "00100529" "00006" "Familial, autosomal recessive" "26y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078743" "02035" "00100530" "00006" "Familial, autosomal recessive" "65y" "skin papules/bumps (HP:0200034); normal eye; no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078744" "02035" "00100531" "00006" "Familial, autosomal recessive" "71y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078745" "02035" "00100532" "00006" "Familial, autosomal recessive" "27y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078746" "02035" "00100533" "00006" "Familial, autosomal recessive" "60y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078747" "02035" "00100534" "00006" "Familial, autosomal recessive" "57y" "skin papules/bumps (HP:0200034); normal eye; no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078748" "02035" "00100535" "00006" "Familial, autosomal recessive" "46y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078749" "02035" "00100536" "00006" "Familial, autosomal recessive" "63y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078750" "02035" "00100537" "00006" "Familial, autosomal recessive" "72y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078751" "02035" "00100538" "00006" "Familial, autosomal recessive" "26y" "normal skin; angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078752" "02035" "00100539" "00006" "Familial, autosomal recessive" "70y" "skin papules/bumps (HP:0200034); normal eye; no gastrointestinal signs; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078753" "02035" "00100540" "00006" "Familial, autosomal recessive" "62y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); gastrointestinal bleeding; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078754" "02035" "00100541" "00006" "Familial, autosomal recessive" "68y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078755" "02035" "00100542" "00006" "Familial, autosomal recessive" "62y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102)" "" "" "" "" "" "" "" "" "" "" "" "0000078756" "02035" "00100543" "00006" "Familial, autosomal recessive" "60y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102)" "" "" "" "" "" "" "" "" "" "" "" "0000078757" "02035" "00100544" "00006" "Familial, autosomal recessive" "70y" "skin papules/bumps (HP:0200034); normal eye; gastrointestinal bleeding; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078758" "02035" "00100545" "00006" "Familial, autosomal recessive" "65y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078759" "02035" "00100546" "00006" "Familial, autosomal recessive" "66y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078760" "02035" "00100547" "00006" "Unknown" "62y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; intermittent claudication (HP:0004417); heart attack (HP:0001658)" "" "" "" "" "" "" "" "" "" "" "" "0000078761" "02035" "00100548" "00006" "Unknown" "64y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); gastrointestinal bleeding; intermittent claudication (HP:0004417); heart attack (HP:0001658)" "" "" "" "" "" "" "" "" "" "" "" "0000078762" "02035" "00100549" "00006" "Unknown" "52y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); gastrointestinal bleeding; vascular weak or absent pulses; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078763" "02035" "00100550" "00006" "Unknown" "43y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078764" "02035" "00100551" "00006" "Unknown" "26y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078765" "02035" "00100552" "00006" "Unknown" "40y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078766" "02035" "00100553" "00006" "Unknown" "57y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078767" "02035" "00100554" "00006" "Unknown" "73y" "skin papules/bumps (HP:0200034); no gastrointestinal signs; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078768" "02035" "00100555" "00006" "Familial, autosomal recessive" "38y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078769" "02035" "00100556" "00006" "Familial, autosomal recessive" "39y" "skin papules/bumps (HP:0200034); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078770" "02035" "00100557" "00006" "Familial, autosomal recessive" "62y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078771" "02035" "00100558" "00006" "Familial, autosomal recessive" "58y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078772" "02035" "00100559" "00006" "Familial, autosomal recessive" "68y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078773" "02035" "00100560" "00006" "Familial, autosomal recessive" "22y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078774" "02035" "00100561" "00006" "Familial, autosomal recessive" "62y" "skin papules/bumps (HP:0200034); normal eye; no gastrointestinal signs; vascular weak or absent pulses; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078775" "02035" "00100562" "00006" "Familial, autosomal recessive" "67y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; vascular surgery; heart attack (HP:0001658)" "" "" "" "" "" "" "" "" "" "" "" "0000078776" "02035" "00100563" "00006" "Familial, autosomal recessive" "62y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078777" "02035" "00100564" "00006" "Familial, autosomal recessive" "54y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078778" "02035" "00100565" "00006" "Familial, autosomal recessive" "47y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078779" "02035" "00100566" "00006" "Familial, autosomal recessive" "36y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078780" "02035" "00100567" "00006" "Familial, autosomal recessive" "88y" "skin papules/bumps (HP:0200034); no gastrointestinal signs; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078781" "02035" "00100568" "00006" "Unknown" "48y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078782" "02035" "00100569" "00006" "Unknown" "58y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078783" "02035" "00100570" "00006" "Unknown" "66y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078784" "02035" "00100571" "00006" "Unknown" "65y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078785" "02035" "00100572" "00006" "Unknown" "51y" "skin papules/bumps (HP:0200034); normal eye; no gastrointestinal signs; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078786" "02035" "00100573" "00006" "Unknown" "4y" "skin papules/bumps (HP:0200034); normal eye; no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078787" "02035" "00100574" "00006" "Unknown" "42y" "skin papules/bumps (HP:0200034); normal eye; no gastrointestinal signs; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078788" "02035" "00100575" "00006" "Unknown" "75y" "skin papules/bumps (HP:0200034); normal eyeno cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078789" "02035" "00100576" "00006" "Familial, autosomal recessive" "62y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078790" "02035" "00100577" "00006" "Familial, autosomal recessive" "58y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078791" "02035" "00100578" "00006" "Familial, autosomal recessive" "62y" "skin papules/bumps (HP:0200034); normal eye; no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078792" "02035" "00100579" "00006" "Familial, autosomal recessive" "34y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078793" "02035" "00100580" "00006" "Familial, autosomal recessive" "8y" "skin papules/bumps (HP:0200034); normal eye; no gastrointestinal signs; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078794" "02035" "00100581" "00006" "Familial, autosomal recessive" "21y" "skin papules/bumps (HP:0200034); normal eye; no gastrointestinal signs; intermittent claudication (HP:0004417); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078795" "02035" "00100582" "00006" "Familial, autosomal recessive" "64y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; intermittent claudication (HP:0004417); chest pain/angina/abnormal EKG or abnormal stress test with no symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078796" "02035" "00100583" "00006" "Familial, autosomal recessive" "39y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078797" "02035" "00100584" "00006" "Familial, autosomal recessive" "55y" "skin papules/bumps (HP:0200034); no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078798" "02035" "00100585" "00006" "Unknown" "45y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; heart attack (HP:0001658)" "" "" "" "" "" "" "" "" "" "" "" "0000078799" "02035" "00100586" "00006" "Familial, autosomal recessive" "53y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078800" "02035" "00100587" "00006" "Familial, autosomal recessive" "41y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078801" "02035" "00100588" "00006" "Familial, autosomal recessive" "38y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078802" "02035" "00100589" "00006" "Familial, autosomal recessive" "63y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078803" "02035" "00100590" "00006" "Familial, autosomal recessive" "31y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078804" "02035" "00100591" "00006" "Familial, autosomal recessive" "72y" "skin papules/bumps (HP:0200034); angioid streaks eye (HP:0001102); no gastrointestinal signs; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078805" "02035" "00100592" "00006" "Unknown" "59y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eyeno cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078806" "02035" "00100593" "00006" "Familial, autosomal recessive" "63y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; vascular weak or absent pulses;" "" "" "" "" "" "" "" "" "" "" "" "0000078807" "02035" "00100594" "00006" "Familial, autosomal recessive" "67y" "skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078808" "02035" "00100595" "00006" "Familial, autosomal recessive" "60y" "skin plaques of coalesced papules; angioid streaks eye (HP:0001102); no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078809" "02035" "00100596" "00006" "Familial, autosomal recessive" "51y" "skin papules/bumps (HP:0200034); no gastrointestinal signs; vascular weak or absent pulses; no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078810" "02035" "00100597" "00006" "Familial, autosomal recessive" "60y" "skin papules/bumps (HP:0200034); no cardiac symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000078811" "02035" "00100598" "00006" "Unknown" "58y" "skin papules/bumps (HP:0200034); normal eye; no gastrointestinal signs; vascular weak or absent pulses; heart attack (HP:0001658)" "" "" "" "" "" "" "" "" "" "" "" "0000078815" "02035" "00088545" "00006" "Familial, autosomal recessive" "" "classical PXE phenotype, including characteristic skin lesions with increased skin folding, “peau de orange”, moderate to severe loss of visual acuity" "" "" "" "" "" "" "" "" "" "" "" "0000078816" "02035" "00088548" "00006" "Isolated (sporadic)" "" "no family history, classical clinical features PXE, established by skin biopsy" "" "" "" "" "" "" "" "" "" "" "" "0000223232" "00198" "00295668" "01164" "Unknown" "" "Abnormality of connective tissue (HP:0003549)" "" "" "" "" "" "" "" "" "" "" "" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "29y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000227005" "00198" "00299700" "01164" "Unknown" "" "Lack of skin elasticity (HP:0100679); Abnormality of skin morphology (HP:0011121)" "" "" "" "" "" "" "" "" "" "" "" "0000234242" "04214" "00308922" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PXE" "" "0000234243" "04214" "00308923" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PXE" "" "0000234244" "04214" "00308924" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PXE" "" "0000234245" "04214" "00308925" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PXE" "" "0000234246" "04214" "00308926" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PXE" "" "0000246334" "04214" "00328107" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000249929" "04214" "00331737" "00000" "Familial, autosomal recessive" "" "Macular atrophy, angioid streaks, neovascular membrane" "" "" "" "" "" "" "" "" "" "pseudoxanthoma elasticum" "" "0000252458" "04214" "00334273" "00000" "Familial, autosomal recessive" "55y" "clinical category IIH2" "" "" "" "" "" "" "" "" "" "pseudoxanthoma elasticum" "" "0000252459" "04214" "00334274" "00000" "Familial, autosomal recessive" "53y" "clinical category IIH2" "" "" "" "" "" "" "" "" "" "pseudoxanthoma elasticum" "" "0000270479" "05415" "00375267" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000270624" "04214" "00375410" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270640" "04214" "00375426" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270647" "04214" "00375433" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273970" "04214" "00380116" "00000" "Unknown" "69y" "Central GA surrounded with reticular drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000273971" "04214" "00380117" "00000" "Unknown" "66y" "Minimal pigmentary alterations and small hard drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000275651" "04214" "00381809" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000280581" "04214" "00386781" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283694" "04214" "00390156" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283695" "04214" "00390157" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284256" "04214" "00390768" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pseudoxanthoma elasticum (PXE)" "" "0000284288" "04214" "00390800" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pseudoxanthoma elasticum (PXE)" "" "0000284289" "04214" "00390801" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pseudoxanthoma elasticum (PXE)" "" "0000284291" "04214" "00390803" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pseudoxanthoma elasticum (PXE)" "" "0000284292" "04214" "00390804" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pseudoxanthoma elasticum (PXE)" "" "0000284293" "04214" "00390805" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "pseudoxanthoma elasticum (PXE)" "" "0000287576" "04214" "00394372" "00000" "Familial, autosomal recessive" "" "Skin rash and fundus changes," "" "" "" "" "" "" "" "" "Pseudoxanthoma elasticum" "" "" "0000287999" "04214" "00394799" "00000" "Familial, autosomal dominant" "24y" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "pseudoxanthoma elasticum" "" "" "0000288004" "04214" "00394804" "00000" "Familial, autosomal dominant" "" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "inherited retinal disease" "" "" "0000301257" "00198" "00409139" "00006" "Unknown" "58y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301258" "00198" "00409140" "00006" "Unknown" "57y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301259" "00198" "00409141" "00006" "Unknown" "61y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301260" "00198" "00409142" "00006" "Unknown" "59y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301261" "00198" "00409143" "00006" "Unknown" "60y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301262" "00198" "00409144" "00006" "Unknown" "24y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301263" "00198" "00409145" "00006" "Unknown" "55y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301264" "00198" "00409146" "00006" "Unknown" "22y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301265" "00198" "00409147" "00006" "Unknown" "66y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301266" "00198" "00409148" "00006" "Unknown" "70y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301267" "00198" "00409149" "00006" "Unknown" "87y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301268" "00198" "00409150" "00006" "Unknown" "63y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301269" "00198" "00409151" "00006" "Unknown" "66y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301270" "00198" "00409152" "00006" "Unknown" "25y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301271" "00198" "00409153" "00006" "Unknown" "70y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301272" "00198" "00409154" "00006" "Unknown" "58y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301273" "00198" "00409155" "00006" "Unknown" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301274" "00198" "00409156" "00006" "Unknown" "36y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301275" "00198" "00409157" "00006" "Unknown" "62y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301276" "00198" "00409158" "00006" "Unknown" "91y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301277" "00198" "00409159" "00006" "Unknown" "65y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301278" "00198" "00409160" "00006" "Unknown" "70y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301279" "00198" "00409161" "00006" "Unknown" "70y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301280" "00198" "00409162" "00006" "Unknown" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301281" "00198" "00409163" "00006" "Unknown" "72y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301282" "00198" "00409164" "00006" "Unknown" "74y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301283" "00198" "00409165" "00006" "Unknown" "41y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301284" "00198" "00409166" "00006" "Unknown" "36y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301285" "00198" "00409167" "00006" "Unknown" "31y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301286" "00198" "00409168" "00006" "Unknown" "57y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301287" "00198" "00409169" "00006" "Unknown" "44y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301288" "00198" "00409170" "00006" "Unknown" "45y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301289" "00198" "00409171" "00006" "Unknown" "48y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301290" "00198" "00409172" "00006" "Unknown" "47y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301291" "00198" "00409173" "00006" "Unknown" "48y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301292" "00198" "00409174" "00006" "Unknown" "50y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301293" "00198" "00409175" "00006" "Unknown" "36y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301294" "00198" "00409176" "00006" "Unknown" "32y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301295" "00198" "00409177" "00006" "Unknown" "55y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301296" "00198" "00409178" "00006" "Unknown" "60y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301297" "00198" "00409179" "00006" "Unknown" "61y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301298" "00198" "00409180" "00006" "Unknown" "47y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301299" "00198" "00409181" "00006" "Unknown" "49y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301300" "00198" "00409182" "00006" "Unknown" "79y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301301" "00198" "00409183" "00006" "Unknown" "66y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301302" "00198" "00409184" "00006" "Unknown" "38y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301303" "00198" "00409185" "00006" "Unknown" "26y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301304" "00198" "00409186" "00006" "Unknown" "63y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301305" "00198" "00409187" "00006" "Unknown" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301306" "00198" "00409188" "00006" "Unknown" "37y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301307" "00198" "00409189" "00006" "Unknown" "53y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301308" "00198" "00409190" "00006" "Unknown" "64y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301309" "00198" "00409191" "00006" "Unknown" "57y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301310" "00198" "00409192" "00006" "Unknown" "75y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301311" "00198" "00409193" "00006" "Unknown" "59y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000301312" "00198" "00409194" "00006" "Unknown" "62y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000318060" "04214" "00426922" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000335975" "04173" "00446771" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335976" "04173" "00446772" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336369" "00198" "00447170" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336375" "00198" "00447176" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336411" "00198" "00447212" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336609" "00198" "00447410" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336709" "00198" "00447510" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336710" "00198" "00447511" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336877" "00198" "00447678" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336923" "00198" "00447724" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclear diagnosis" "" "0000355588" "07210" "00470694" "00006" "Familial" "13y" "see paper; ... scoliosis, no other skeletal defects; back pain; physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 878 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050455" "00050510" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050491" "00050546" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000079255" "00079069" "1" "01675" "01675" "2016-07-15 10:44:28" "00006" "2016-08-05 11:09:04" "SEQ" "DNA" "" "" "0000088400" "00088257" "1" "00240" "00240" "2013-01-15 10:28:04" "" "" "SEQ" "DNA" "" "" "0000088401" "00088258" "1" "00240" "00240" "2013-01-24 19:51:37" "" "" "SEQ" "DNA" "" "" "0000088402" "00088259" "1" "00240" "00240" "2013-01-30 09:01:42" "" "" "SEQ" "DNA" "" "" "0000088403" "00088260" "1" "00240" "00240" "2010-11-29 15:02:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088404" "00088261" "1" "00240" "00240" "2010-11-30 09:14:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088405" "00088262" "1" "00240" "00240" "2010-11-30 10:28:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088406" "00088263" "1" "00240" "00240" "2009-06-29 00:00:00" "" "" "BESS" "DNA" "" "" "0000088407" "00088264" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088408" "00088265" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088409" "00088266" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088410" "00088267" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088411" "00088268" "1" "00240" "00240" "2010-12-06 09:54:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088412" "00088269" "1" "00240" "00240" "2010-12-06 10:00:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088413" "00088270" "1" "00240" "00240" "2010-12-06 10:02:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088414" "00088271" "1" "00240" "00240" "2010-12-06 10:40:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088415" "00088272" "1" "00240" "00240" "2010-12-06 10:44:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088416" "00088273" "1" "00240" "00240" "2010-12-06 10:41:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088417" "00088274" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088418" "00088275" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088419" "00088276" "1" "00240" "00240" "2010-12-06 15:01:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088420" "00088277" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088421" "00088278" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088422" "00088279" "1" "00240" "00240" "2010-12-06 16:40:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088423" "00088280" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088424" "00088281" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088425" "00088282" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088426" "00088283" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088427" "00088284" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088428" "00088285" "1" "00240" "00240" "2010-12-07 10:22:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088429" "00088286" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088430" "00088287" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088431" "00088288" "1" "00240" "00240" "2010-12-07 10:24:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088432" "00088289" "1" "00240" "00240" "2010-12-07 11:00:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088433" "00088290" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088434" "00088291" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088435" "00088292" "1" "00240" "00240" "2010-12-07 13:18:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088436" "00088293" "1" "00240" "00240" "2010-12-07 14:00:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088437" "00088294" "1" "00240" "00240" "2010-12-07 14:11:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088438" "00088295" "1" "00240" "00240" "2010-12-07 15:32:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088439" "00088296" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088440" "00088297" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088441" "00088298" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088442" "00088299" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088443" "00088300" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088444" "00088301" "1" "00240" "00240" "2010-12-06 16:16:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088445" "00088302" "1" "00240" "00240" "2010-12-07 08:44:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088446" "00088303" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088447" "00088304" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088448" "00088305" "1" "00240" "00240" "2010-12-06 15:39:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088449" "00088306" "1" "00240" "00240" "2010-12-07 15:51:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088450" "00088307" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088451" "00088308" "1" "00240" "00240" "2010-12-08 10:50:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088452" "00088309" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088453" "00088310" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088454" "00088311" "1" "00240" "00240" "2010-12-07 09:20:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088455" "00088312" "1" "00240" "00240" "2010-12-07 10:50:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088456" "00088313" "1" "00240" "00240" "2010-12-07 16:01:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088457" "00088314" "1" "00240" "00240" "2010-11-29 16:10:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088458" "00088315" "1" "00240" "00240" "2010-11-29 16:17:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088459" "00088316" "1" "00240" "00240" "2010-11-29 16:24:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088460" "00088317" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088461" "00088318" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088462" "00088319" "1" "00240" "00240" "2010-11-30 09:10:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088463" "00088320" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088464" "00088321" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088465" "00088322" "1" "00240" "00240" "2010-11-30 09:33:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088466" "00088323" "1" "00240" "00240" "2010-11-30 09:37:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088467" "00088324" "1" "00240" "00240" "2010-11-30 09:39:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088468" "00088325" "1" "00240" "00240" "2010-11-30 09:51:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088469" "00088326" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088470" "00088327" "1" "00240" "00240" "2010-11-30 10:01:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088471" "00088328" "1" "00240" "00240" "2010-11-30 10:05:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088472" "00088329" "1" "00240" "00240" "2010-11-30 10:08:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088473" "00088330" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088474" "00088331" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088475" "00088332" "1" "00240" "00240" "2010-11-30 10:10:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088476" "00088333" "1" "00240" "00240" "2010-11-30 10:14:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088477" "00088334" "1" "00240" "00240" "2010-11-30 10:15:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088478" "00088335" "1" "00240" "00240" "2010-11-30 10:19:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088479" "00088336" "1" "00240" "00240" "2010-11-30 10:21:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088480" "00088337" "1" "00240" "00240" "2010-11-30 10:22:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088481" "00088338" "1" "00240" "00240" "2010-11-30 10:26:00" "" "" "DHPLC;RT-PCR;SEQ" "DNA;RNA" "" "" "0000088482" "00088339" "1" "00240" "00240" "2010-11-30 10:30:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088483" "00088340" "1" "00240" "00240" "2010-11-30 10:32:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088484" "00088341" "1" "00240" "00240" "2010-11-30 10:34:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088485" "00088342" "1" "00240" "00240" "2010-11-30 10:37:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088486" "00088343" "1" "00240" "00240" "2010-11-30 11:01:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088487" "00088344" "1" "00240" "00240" "2010-11-30 13:19:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088488" "00088345" "1" "00240" "00240" "2010-11-30 13:22:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088489" "00088346" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088490" "00088347" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088491" "00088348" "1" "00240" "00240" "2010-11-30 13:27:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088492" "00088349" "1" "00240" "00240" "2010-11-30 13:46:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088493" "00088350" "1" "00240" "00240" "2010-11-30 15:12:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088494" "00088351" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088495" "00088352" "1" "00240" "00240" "2010-11-30 15:16:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088496" "00088353" "1" "00240" "00240" "2010-11-30 15:18:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088497" "00088354" "1" "00240" "00240" "2010-11-30 15:20:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088498" "00088355" "1" "00240" "00240" "2010-11-30 15:23:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088499" "00088356" "1" "00240" "00240" "2010-12-06 09:39:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088500" "00088357" "1" "00240" "00240" "2010-12-07 08:33:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088501" "00088358" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088502" "00088359" "1" "00240" "00240" "2010-12-06 09:44:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088503" "00088360" "1" "00240" "00240" "2010-12-06 09:48:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088504" "00088361" "1" "00240" "00240" "2010-12-06 10:35:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088505" "00088362" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088506" "00088363" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088507" "00088364" "1" "00240" "00240" "2010-12-06 11:00:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088508" "00088365" "1" "00240" "00240" "2010-12-06 11:06:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088509" "00088366" "1" "00240" "00240" "2010-12-06 11:23:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088510" "00088367" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088511" "00088368" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088512" "00088369" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088513" "00088370" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088514" "00088371" "1" "00240" "00240" "2010-12-06 11:39:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088515" "00088372" "1" "00240" "00240" "2010-12-06 11:54:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088516" "00088373" "1" "00240" "00240" "2010-12-06 13:24:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088517" "00088374" "1" "00240" "00240" "2010-12-06 13:55:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088518" "00088375" "1" "00240" "00240" "2010-12-06 14:05:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088519" "00088376" "1" "00240" "00240" "2010-12-07 14:00:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088520" "00088377" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088521" "00088378" "1" "00240" "00240" "2010-12-06 14:27:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088522" "00088379" "1" "00240" "00240" "2010-12-06 14:47:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088523" "00088380" "1" "00240" "00240" "2010-12-06 14:49:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088524" "00088381" "1" "00240" "00240" "2010-12-06 14:59:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088525" "00088382" "1" "00240" "00240" "2010-12-06 15:03:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088526" "00088383" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088527" "00088384" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088528" "00088385" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088529" "00088386" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088530" "00088387" "1" "00240" "00240" "2010-12-06 15:36:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088531" "00088388" "1" "00240" "00240" "2010-12-07 09:34:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088532" "00088389" "1" "00240" "00240" "2010-12-08 16:27:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088533" "00088390" "1" "00240" "00240" "2010-12-06 15:52:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088534" "00088391" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088535" "00088392" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088536" "00088393" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088537" "00088394" "1" "00240" "00240" "2010-12-06 15:56:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088538" "00088395" "1" "00240" "00240" "2010-12-07 16:09:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088539" "00088396" "1" "00240" "00240" "2010-12-06 16:29:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088540" "00088397" "1" "00240" "00240" "2010-12-06 16:33:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088541" "00088398" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088542" "00088399" "1" "00240" "00240" "2010-12-07 08:31:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088543" "00088400" "1" "00240" "00240" "2010-12-07 08:33:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088544" "00088401" "1" "00240" "00240" "2010-12-07 08:35:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088545" "00088402" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088546" "00088403" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088547" "00088404" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088548" "00088405" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088549" "00088406" "1" "00240" "00240" "2010-12-07 08:40:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088550" "00088407" "1" "00240" "00240" "2010-12-07 08:43:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088551" "00088408" "1" "00240" "00240" "2010-12-07 08:44:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088552" "00088409" "1" "00240" "00240" "2010-12-07 08:59:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088553" "00088410" "1" "00240" "00240" "2010-12-07 09:18:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088554" "00088411" "1" "00240" "00240" "2010-12-07 09:20:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088555" "00088412" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088556" "00088413" "1" "00240" "00240" "2010-12-07 09:44:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088557" "00088414" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088558" "00088415" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088559" "00088416" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088560" "00088417" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088561" "00088418" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088562" "00088419" "1" "00240" "00240" "2010-12-07 10:20:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088563" "00088420" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088564" "00088421" "1" "00240" "00240" "2010-12-07 10:31:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088565" "00088422" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088566" "00088423" "1" "00240" "00240" "2010-12-07 10:34:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088567" "00088424" "1" "00240" "00240" "2010-12-08 15:47:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088568" "00088425" "1" "00240" "00240" "2010-12-07 11:14:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088569" "00088426" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088570" "00088427" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088571" "00088428" "1" "00240" "00240" "2010-12-07 13:14:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088572" "00088429" "1" "00240" "00240" "2010-12-07 13:31:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088573" "00088430" "1" "00240" "00240" "2010-12-07 14:16:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088574" "00088431" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088575" "00088432" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088576" "00088433" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088577" "00088434" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088578" "00088435" "1" "00240" "00240" "2010-12-07 15:20:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088579" "00088436" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088580" "00088437" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088581" "00088438" "1" "00240" "00240" "2010-12-07 15:39:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088582" "00088439" "1" "00240" "00240" "2010-12-07 15:42:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088583" "00088440" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088584" "00088441" "1" "00240" "00240" "2010-12-08 13:50:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088585" "00088442" "1" "00240" "00240" "2010-12-07 08:38:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088586" "00088443" "1" "00240" "00240" "2010-12-08 15:44:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088587" "00088444" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088588" "00088445" "1" "00240" "00240" "2010-12-08 15:58:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088589" "00088446" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088590" "00088447" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088591" "00088448" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088592" "00088449" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088593" "00088450" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088594" "00088451" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088595" "00088452" "1" "00240" "00240" "2010-11-28 11:32:00" "" "" "DHPLC" "DNA" "" "" "0000088596" "00088453" "1" "00240" "00240" "2010-11-28 11:37:00" "" "" "DHPLC" "DNA" "" "" "0000088597" "00088454" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088598" "00088455" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088599" "00088456" "1" "00240" "00240" "2010-11-29 15:05:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088600" "00088457" "1" "00240" "00240" "2010-11-29 15:18:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088601" "00088458" "1" "00240" "00240" "2010-11-30 09:18:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088602" "00088459" "1" "00240" "00240" "2010-11-30 09:24:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088603" "00088460" "1" "00240" "00240" "2010-11-30 09:27:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088604" "00088461" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088605" "00088462" "1" "00240" "00240" "2010-11-30 09:29:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088606" "00088463" "1" "00240" "00240" "2010-11-30 09:18:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088607" "00088464" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088608" "00088465" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088609" "00088466" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088610" "00088467" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088611" "00088468" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088612" "00088469" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088613" "00088470" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088614" "00088471" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088615" "00088472" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088616" "00088473" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088617" "00088474" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088618" "00088475" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088619" "00088476" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "SEQ" "DNA" "" "" "0000088620" "00088477" "1" "00240" "00240" "2010-12-07 09:32:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088621" "00088478" "1" "00240" "00240" "2010-12-08 14:02:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088622" "00088479" "1" "00240" "00240" "2010-12-08 13:48:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088623" "00088480" "1" "00240" "00240" "2010-12-07 09:32:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088624" "00088481" "1" "00240" "00240" "2010-12-07 09:50:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088625" "00088482" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088626" "00088483" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088627" "00088484" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088628" "00088485" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088629" "00088486" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088630" "00088487" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088631" "00088488" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088632" "00088489" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088633" "00088490" "1" "00240" "00240" "2009-07-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088634" "00088491" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088635" "00088492" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088636" "00088493" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088637" "00088494" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088638" "00088495" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088639" "00088496" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088640" "00088497" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088641" "00088498" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088642" "00088499" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088643" "00088500" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088644" "00088501" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088645" "00088502" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "BESS" "DNA" "" "" "0000088646" "00088503" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088647" "00088504" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088648" "00088505" "1" "00240" "00240" "2009-07-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088649" "00088506" "1" "00240" "00240" "2009-07-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088650" "00088507" "1" "00240" "00240" "2009-06-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088651" "00088508" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088652" "00088509" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088653" "00088510" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088654" "00088511" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088655" "00088512" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088656" "00088513" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088657" "00088514" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088658" "00088515" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088659" "00088516" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088660" "00088517" "1" "00240" "00240" "2009-06-29 00:00:00" "" "" "BESS" "DNA" "" "" "0000088661" "00088518" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088662" "00088519" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088663" "00088520" "1" "00240" "00240" "2009-02-26 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088664" "00088521" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088665" "00088522" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088666" "00088523" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088667" "00088524" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088668" "00088525" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088669" "00088526" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088670" "00088527" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088671" "00088528" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088672" "00088529" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088673" "00088530" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088674" "00088531" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088675" "00088532" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088676" "00088533" "1" "00240" "00240" "2009-06-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088677" "00088534" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088678" "00088535" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088679" "00088536" "1" "00240" "00240" "2009-06-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088680" "00088537" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088681" "00088538" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088682" "00088539" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088683" "00088540" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088684" "00088541" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088685" "00088542" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088686" "00088543" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088687" "00088544" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088688" "00088545" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088689" "00088546" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088691" "00088548" "1" "00240" "00240" "2009-06-10 00:00:00" "00006" "2017-03-04 15:18:04" "CSGE" "DNA" "" "" "0000088692" "00088549" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088693" "00088550" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088694" "00088551" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088695" "00088552" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088696" "00088553" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088697" "00088554" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088698" "00088555" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088699" "00088556" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088700" "00088557" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088701" "00088558" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088702" "00088559" "1" "00240" "00240" "2009-06-29 00:00:00" "" "" "BESS" "DNA" "" "" "0000088703" "00088560" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088704" "00088561" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088705" "00088562" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088706" "00088563" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088707" "00088564" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088708" "00088565" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088709" "00088566" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088710" "00088567" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088711" "00088568" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088712" "00088569" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088713" "00088570" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088714" "00088571" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088715" "00088572" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088716" "00088573" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088717" "00088574" "1" "00240" "00240" "2009-06-10 00:00:00" "" "" "BESS" "DNA" "" "" "0000088718" "00088575" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088719" "00088576" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088720" "00088577" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088721" "00088578" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088722" "00088579" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088723" "00088580" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088724" "00088581" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088725" "00088582" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088726" "00088583" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088727" "00088584" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088728" "00088585" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088729" "00088586" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088730" "00088587" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088731" "00088588" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088732" "00088589" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088733" "00088590" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088734" "00088591" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088735" "00088592" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088736" "00088593" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088737" "00088594" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088738" "00088595" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088739" "00088596" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088740" "00088597" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088741" "00088598" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088742" "00088599" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088743" "00088600" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088744" "00088601" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088745" "00088602" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088746" "00088603" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088747" "00088604" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088748" "00088605" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088749" "00088606" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088750" "00088607" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088751" "00088608" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088752" "00088609" "1" "00240" "00240" "2009-06-29 00:00:00" "" "" "BESS" "DNA" "" "" "0000088753" "00088610" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088754" "00088611" "1" "00240" "00240" "2009-06-29 00:00:00" "" "" "BESS" "DNA" "" "" "0000088755" "00088612" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088756" "00088613" "1" "00240" "00240" "2009-06-29 00:00:00" "" "" "BESS" "DNA" "" "" "0000088757" "00088614" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088758" "00088615" "1" "00240" "00240" "2009-06-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088759" "00088616" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088760" "00088617" "1" "00240" "00240" "2009-06-10 00:00:00" "" "" "BESS" "DNA" "" "" "0000088761" "00088618" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088762" "00088619" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088763" "00088620" "1" "00240" "00240" "2009-06-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088764" "00088621" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088765" "00088622" "1" "00240" "00240" "2009-07-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088766" "00088623" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088767" "00088624" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088768" "00088625" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088769" "00088626" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088770" "00088627" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088771" "00088628" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088772" "00088629" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088773" "00088630" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088774" "00088631" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088775" "00088632" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088776" "00088633" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088777" "00088634" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088778" "00088635" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088779" "00088636" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088780" "00088637" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088781" "00088638" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088782" "00088639" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088783" "00088640" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088784" "00088641" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088785" "00088642" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088786" "00088643" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088787" "00088644" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088788" "00088645" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088789" "00088646" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088790" "00088647" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088791" "00088648" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088792" "00088649" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088793" "00088650" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088794" "00088651" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088795" "00088652" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088796" "00088653" "1" "00240" "00240" "2009-06-10 00:00:00" "" "" "BESS" "DNA" "" "" "0000088797" "00088654" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088798" "00088655" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088799" "00088656" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088800" "00088657" "1" "00240" "00240" "2008-10-20 00:00:00" "" "" "BESS" "DNA" "" "" "0000088801" "00088658" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088802" "00088659" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088803" "00088660" "1" "00240" "00240" "2009-06-10 00:00:00" "" "" "BESS" "DNA" "" "" "0000088804" "00088661" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088805" "00088662" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088806" "00088663" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088807" "00088664" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088808" "00088665" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088809" "00088666" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088810" "00088667" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088811" "00088668" "1" "00240" "00240" "2009-06-10 00:00:00" "" "" "BESS" "DNA" "" "" "0000088812" "00088669" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088813" "00088670" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088814" "00088671" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088815" "00088672" "1" "00240" "00240" "2009-07-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088816" "00088673" "1" "00240" "00240" "2009-07-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088817" "00088674" "1" "00240" "00240" "2009-07-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088818" "00088675" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088819" "00088676" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088820" "00088677" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088821" "00088678" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088822" "00088679" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088823" "00088680" "1" "00240" "00240" "2009-07-09 00:00:00" "" "" "BESS" "DNA" "" "" "0000088824" "00088681" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088825" "00088682" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088826" "00088683" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088827" "00088684" "1" "00240" "00240" "2009-06-25 00:00:00" "" "" "BESS" "DNA" "" "" "0000088828" "00088685" "1" "00240" "00240" "2009-06-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088829" "00088686" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088830" "00088687" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088831" "00088688" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088832" "00088689" "1" "00240" "00240" "2009-06-10 00:00:00" "" "" "CMC" "DNA" "" "" "0000088833" "00088690" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088834" "00088691" "1" "00240" "00240" "2009-06-29 00:00:00" "" "" "BESS" "DNA" "" "" "0000088835" "00088692" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088836" "00088693" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088837" "00088694" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088838" "00088695" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088839" "00088696" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088840" "00088697" "1" "00240" "00240" "2009-06-10 00:00:00" "" "" "BESS" "DNA" "" "" "0000088841" "00088698" "1" "00240" "00240" "2009-06-29 00:00:00" "" "" "BESS" "DNA" "" "" "0000088842" "00088699" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088843" "00088700" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088844" "00088701" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088845" "00088702" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088846" "00088703" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088847" "00088704" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088848" "00088705" "1" "00240" "00240" "2009-06-10 00:00:00" "" "" "BESS" "DNA" "" "" "0000088849" "00088706" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088850" "00088707" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088851" "00088708" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088852" "00088709" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088853" "00088710" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088854" "00088711" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088855" "00088712" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088856" "00088713" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088857" "00088714" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088858" "00088715" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088859" "00088716" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088860" "00088717" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088861" "00088718" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088862" "00088719" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088863" "00088720" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088864" "00088721" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088865" "00088722" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088866" "00088723" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088867" "00088724" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088868" "00088725" "1" "00240" "00240" "2009-06-10 00:00:00" "" "" "BESS" "DNA" "" "" "0000088869" "00088726" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088870" "00088727" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088871" "00088728" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088872" "00088729" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088873" "00088730" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088874" "00088731" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088875" "00088732" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088876" "00088733" "1" "00240" "00240" "2009-07-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088877" "00088734" "1" "00240" "00240" "2009-07-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088878" "00088735" "1" "00240" "00240" "2009-07-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088879" "00088736" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088880" "00088737" "1" "00240" "00240" "2009-07-02 00:00:00" "" "" "BESS" "DNA" "" "" "0000088881" "00088738" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088882" "00088739" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088883" "00088740" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088884" "00088741" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088885" "00088742" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088886" "00088743" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088887" "00088744" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088888" "00088745" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088889" "00088746" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088890" "00088747" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088891" "00088748" "1" "00240" "00240" "2009-06-10 00:00:00" "" "" "BESS" "DNA" "" "" "0000088892" "00088749" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088893" "00088750" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088894" "00088751" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088895" "00088752" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088896" "00088753" "1" "00240" "00240" "2009-07-07 00:00:00" "" "" "BESS" "DNA" "" "" "0000088897" "00088754" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088898" "00088755" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088899" "00088756" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088900" "00088757" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088901" "00088758" "1" "00240" "00240" "2009-07-01 00:00:00" "" "" "BESS" "DNA" "" "" "0000088902" "00088759" "1" "00240" "00240" "2009-07-15 00:00:00" "" "" "BESS" "DNA" "" "" "0000088903" "00088760" "1" "00240" "00240" "2009-06-29 00:00:00" "" "" "BESS" "DNA" "" "" "0000088904" "00088761" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088905" "00088762" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088906" "00088763" "1" "00240" "00240" "2009-06-29 00:00:00" "" "" "BESS" "DNA" "" "" "0000088907" "00088764" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088908" "00088765" "1" "00240" "00240" "2009-07-08 00:00:00" "" "" "BESS" "DNA" "" "" "0000088909" "00088766" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088910" "00088767" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088911" "00088768" "1" "00240" "00240" "2009-06-23 00:00:00" "" "" "BESS" "DNA" "" "" "0000088912" "00088769" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088913" "00088770" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "BESS" "DNA" "" "" "0000088914" "00088771" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088915" "00088772" "1" "00240" "00240" "2009-02-10 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088916" "00088773" "1" "00240" "00240" "2009-01-06 00:00:00" "" "" "SEQ" "DNA" "" "" "0000088917" "00088774" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088918" "00088775" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088919" "00088776" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088920" "00088777" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088921" "00088778" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088922" "00088779" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088923" "00088780" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088924" "00088781" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088925" "00088782" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088926" "00088783" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088927" "00088784" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088928" "00088785" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088929" "00088786" "1" "00240" "00240" "2009-06-18 00:00:00" "" "" "SSCA;SEQ" "DNA" "" "" "0000088930" "00088787" "1" "00240" "00240" "2010-12-06 14:23:00" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088931" "00088788" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088932" "00088789" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088933" "00088790" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088934" "00088791" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088935" "00088792" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088936" "00088793" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088937" "00088794" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088938" "00088795" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088939" "00088796" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088940" "00088797" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088941" "00088798" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088942" "00088799" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088943" "00088800" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088944" "00088801" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088945" "00088802" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088946" "00088803" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088947" "00088804" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088948" "00088805" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088949" "00088806" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088950" "00088807" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088951" "00088808" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088952" "00088809" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088953" "00088810" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088954" "00088811" "1" "00240" "00240" "2009-06-11 00:00:00" "" "" "BESS" "DNA" "" "" "0000088955" "00088812" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088956" "00088813" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088957" "00088814" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088958" "00088815" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088959" "00088816" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088960" "00088817" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088961" "00088818" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088962" "00088819" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088963" "00088820" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088964" "00088821" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088965" "00088822" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088966" "00088823" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088967" "00088824" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088968" "00088825" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088969" "00088826" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088970" "00088827" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088971" "00088828" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088972" "00088829" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088973" "00088830" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088974" "00088831" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088975" "00088832" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088976" "00088833" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088977" "00088834" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088978" "00088835" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088979" "00088836" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088980" "00088837" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088981" "00088838" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088982" "00088839" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088983" "00088840" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088984" "00088841" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088985" "00088842" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088986" "00088843" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088987" "00088844" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088988" "00088845" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088989" "00088846" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088990" "00088847" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088991" "00088848" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088992" "00088849" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088993" "00088850" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088994" "00088851" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088995" "00088852" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088996" "00088853" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088997" "00088854" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088998" "00088855" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000088999" "00088856" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000089000" "00088857" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000089001" "00088858" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000089002" "00088859" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000089003" "00088860" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000089004" "00088861" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000089005" "00088862" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000089006" "00088863" "1" "00240" "00240" "2013-02-27 14:21:09" "" "" "BESS" "DNA" "" "" "0000089007" "00088865" "1" "00006" "00006" "2016-11-25 22:41:05" "" "" "SEQ" "DNA" "" "" "0000089008" "00088866" "1" "00006" "00006" "2016-11-25 22:47:26" "" "" "SEQ" "DNA" "" "" "0000089009" "00088867" "1" "00006" "00006" "2016-11-25 22:50:14" "" "" "SEQ" "DNA" "" "" "0000089010" "00088868" "1" "00006" "00006" "2016-11-25 23:01:37" "" "" "SEQ" "DNA" "" "" "0000089011" "00088869" "1" "00006" "00006" "2016-11-25 23:04:45" "" "" "SEQ" "DNA" "" "" "0000089014" "00088871" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "PCR;SEQ" "DNA" "blood" "" "0000089015" "00088872" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089016" "00088873" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089017" "00088874" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089018" "00088875" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089019" "00088876" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089020" "00088877" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089021" "00088878" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089022" "00088879" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089023" "00088880" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089024" "00088881" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089025" "00088882" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089026" "00088883" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089027" "00088884" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089028" "00088885" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089029" "00088886" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089030" "00088887" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089031" "00088888" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089032" "00088889" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089033" "00088890" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089034" "00088891" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089035" "00088892" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089036" "00088893" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089037" "00088894" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089038" "00088895" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089039" "00088896" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089040" "00088897" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089041" "00088898" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089042" "00088899" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089043" "00088900" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089044" "00088901" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "PCR;SEQ" "DNA" "blood" "" "0000089045" "00088902" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089046" "00088903" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089047" "00088904" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089048" "00088905" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089049" "00088906" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089050" "00088907" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089051" "00088908" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089052" "00088909" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089053" "00088910" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089054" "00088911" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089055" "00088912" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "PCR;SEQ" "DNA" "blood" "" "0000089056" "00088913" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089057" "00088914" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089058" "00088915" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089059" "00088916" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089060" "00088917" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089061" "00088918" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089062" "00088919" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089063" "00088920" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089064" "00088921" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "PCR;SEQ" "DNA" "blood" "" "0000089065" "00088922" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "PCR;SEQ" "DNA" "blood" "" "0000089066" "00088923" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089067" "00088924" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "PCR;SEQ" "DNA" "blood" "" "0000089068" "00088925" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089069" "00088926" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089070" "00088927" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "PCR;SEQ" "DNA" "blood" "" "0000089071" "00088928" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089072" "00088929" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089073" "00088930" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089074" "00088931" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089075" "00088932" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089076" "00088933" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089077" "00088934" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089078" "00088935" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089079" "00088936" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089080" "00088937" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089081" "00088938" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089082" "00088939" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089083" "00088940" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089084" "00088941" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000089085" "00088942" "1" "01806" "01806" "2016-10-24 15:49:15" "" "" "SEQ" "DNA" "blood" "" "0000100942" "00100526" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100943" "00100527" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100944" "00100528" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100945" "00100529" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100946" "00100530" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100947" "00100531" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100948" "00100532" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100949" "00100533" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100950" "00100534" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100951" "00100535" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100952" "00100536" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100953" "00100537" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100954" "00100538" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100955" "00100539" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100956" "00100540" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100957" "00100541" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100958" "00100542" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100959" "00100543" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100960" "00100544" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100961" "00100545" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100962" "00100546" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100963" "00100547" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100964" "00100548" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100965" "00100549" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100966" "00100550" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100967" "00100551" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100968" "00100552" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100969" "00100553" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100970" "00100554" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100971" "00100555" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100972" "00100556" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100973" "00100557" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100974" "00100558" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100975" "00100559" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100976" "00100560" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100977" "00100561" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100978" "00100562" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100979" "00100563" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100980" "00100564" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100981" "00100565" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100982" "00100566" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100983" "00100567" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100984" "00100568" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100985" "00100569" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100986" "00100570" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100987" "00100571" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100988" "00100572" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100989" "00100573" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100990" "00100574" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100991" "00100575" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100992" "00100576" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100993" "00100577" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100994" "00100578" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100995" "00100579" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100996" "00100580" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100997" "00100581" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100998" "00100582" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000100999" "00100583" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101000" "00100584" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101001" "00100585" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101002" "00100586" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101003" "00100587" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101004" "00100588" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101005" "00100589" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101006" "00100590" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101007" "00100591" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101008" "00100592" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101009" "00100593" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101010" "00100594" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101011" "00100595" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101012" "00100596" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101013" "00100597" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101014" "00100598" "1" "00006" "00006" "2017-03-04 14:49:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000101018" "00100602" "1" "00006" "00006" "2017-03-04 16:01:43" "" "" "SEQ" "DNA" "" "" "0000101019" "00100603" "1" "00006" "00006" "2017-03-04 16:05:22" "" "" "SEQ" "DNA" "" "" "0000101020" "00100604" "1" "00006" "00006" "2017-03-04 16:07:26" "" "" "SEQ" "DNA" "" "" "0000101021" "00100605" "1" "00006" "00006" "2017-03-04 16:09:30" "" "" "SEQ" "DNA" "" "" "0000101022" "00100606" "1" "00006" "00006" "2017-03-04 16:11:39" "" "" "SEQ" "DNA" "" "" "0000247013" "00245901" "1" "01164" "01164" "2019-07-11 09:56:34" "" "" "SEQ-NG-S" "DNA" "" "" "0000292555" "00291387" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292557" "00291389" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292558" "00291390" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292559" "00291391" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292560" "00291392" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292561" "00291393" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292562" "00291394" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296628" "00295460" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296840" "00295668" "1" "01164" "01164" "2020-03-22 12:44:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000300810" "00299700" "1" "01164" "01164" "2020-04-20 10:36:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000305628" "00304499" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305629" "00304500" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305630" "00304501" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305631" "00304502" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305632" "00304503" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310067" "00308922" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310068" "00308923" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310069" "00308924" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310070" "00308925" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310071" "00308926" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329322" "00328107" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000332956" "00331737" "1" "00000" "00006" "2021-02-13 09:57:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000335499" "00334273" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335500" "00334274" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000376462" "00375267" "1" "02404" "02404" "2021-06-02 16:03:28" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000376607" "00375410" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376623" "00375426" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376630" "00375433" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000381317" "00380116" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing" "0000381318" "00380117" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing" "0000383025" "00381809" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000388009" "00386781" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000391397" "00390156" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391398" "00390157" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392009" "00390768" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000392041" "00390800" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000392042" "00390801" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000392044" "00390803" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000392045" "00390804" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000392046" "00390805" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000395619" "00394372" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000396046" "00394799" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000396051" "00394804" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000410404" "00409139" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410405" "00409140" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410406" "00409141" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410407" "00409142" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410408" "00409143" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410409" "00409144" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410410" "00409145" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410411" "00409146" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410412" "00409147" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410413" "00409148" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410414" "00409149" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410415" "00409150" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410416" "00409151" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410417" "00409152" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410418" "00409153" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410419" "00409154" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410420" "00409155" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410421" "00409156" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410422" "00409157" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410423" "00409158" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410424" "00409159" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410425" "00409160" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410426" "00409161" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410427" "00409162" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410428" "00409163" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410429" "00409164" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410430" "00409165" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410431" "00409166" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410432" "00409167" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410433" "00409168" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410434" "00409169" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410435" "00409170" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410436" "00409171" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410437" "00409172" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410438" "00409173" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410439" "00409174" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410440" "00409175" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410441" "00409176" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410442" "00409177" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410443" "00409178" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410444" "00409179" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410445" "00409180" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410446" "00409181" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410447" "00409182" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410448" "00409183" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410449" "00409184" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410450" "00409185" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410451" "00409186" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410452" "00409187" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410453" "00409188" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410454" "00409189" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410455" "00409190" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410456" "00409191" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410457" "00409192" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410458" "00409193" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000410459" "00409194" "1" "00006" "00006" "2022-05-03 19:37:14" "" "" "SEQ" "DNA" "" "" "0000428242" "00426922" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000448346" "00446771" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448347" "00446772" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448747" "00447170" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448753" "00447176" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448789" "00447212" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448987" "00447410" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449087" "00447510" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449088" "00447511" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449255" "00447678" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449301" "00447724" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000472361" "00470694" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 844 "{{screeningid}}" "{{geneid}}" "0000050491" "EP300" "0000079255" "ABCC6" "0000079255" "ENPP1" "0000088400" "ABCC6" "0000088401" "ABCC6" "0000088402" "ABCC6" "0000088403" "ABCC6" "0000088404" "ABCC6" "0000088405" "ABCC6" "0000088406" "ABCC6" "0000088407" "ABCC6" "0000088408" "ABCC6" "0000088409" "ABCC6" "0000088410" "ABCC6" "0000088411" "ABCC6" "0000088412" "ABCC6" "0000088413" "ABCC6" "0000088414" "ABCC6" "0000088415" "ABCC6" "0000088416" "ABCC6" "0000088417" "ABCC6" "0000088418" "ABCC6" "0000088419" "ABCC6" "0000088420" "ABCC6" "0000088421" "ABCC6" "0000088422" "ABCC6" "0000088423" "ABCC6" "0000088424" "ABCC6" "0000088425" "ABCC6" "0000088426" "ABCC6" "0000088427" "ABCC6" "0000088428" "ABCC6" "0000088429" "ABCC6" "0000088430" "ABCC6" "0000088431" "ABCC6" "0000088432" "ABCC6" "0000088433" "ABCC6" "0000088434" "ABCC6" "0000088435" "ABCC6" "0000088436" "ABCC6" "0000088437" "ABCC6" "0000088438" "ABCC6" "0000088439" "ABCC6" "0000088440" "ABCC6" "0000088441" "ABCC6" "0000088442" "ABCC6" "0000088443" "ABCC6" "0000088444" "ABCC6" "0000088445" "ABCC6" "0000088446" "ABCC6" "0000088447" "ABCC6" "0000088448" "ABCC6" "0000088449" "ABCC6" "0000088450" "ABCC6" "0000088451" "ABCC6" "0000088452" "ABCC6" "0000088453" "ABCC6" "0000088454" "ABCC6" "0000088455" "ABCC6" "0000088456" "ABCC6" "0000088457" "ABCC6" "0000088458" "ABCC6" "0000088459" "ABCC6" "0000088460" "ABCC6" "0000088461" "ABCC6" "0000088462" "ABCC6" "0000088463" "ABCC6" "0000088464" "ABCC6" "0000088465" "ABCC6" "0000088466" "ABCC6" "0000088467" "ABCC6" "0000088468" "ABCC6" "0000088469" "ABCC6" "0000088470" "ABCC6" "0000088471" "ABCC6" "0000088472" "ABCC6" "0000088473" "ABCC6" "0000088474" "ABCC6" "0000088475" "ABCC6" "0000088476" "ABCC6" "0000088477" "ABCC6" "0000088478" "ABCC6" "0000088479" "ABCC6" "0000088480" "ABCC6" "0000088481" "ABCC6" "0000088482" "ABCC6" "0000088483" "ABCC6" "0000088484" "ABCC6" "0000088485" "ABCC6" "0000088486" "ABCC6" "0000088487" "ABCC6" "0000088488" "ABCC6" "0000088489" "ABCC6" "0000088490" "ABCC6" "0000088491" "ABCC6" "0000088492" "ABCC6" "0000088493" "ABCC6" "0000088494" "ABCC6" "0000088495" "ABCC6" "0000088496" "ABCC6" "0000088497" "ABCC6" "0000088498" "ABCC6" "0000088499" "ABCC6" "0000088500" "ABCC6" "0000088501" "ABCC6" "0000088502" "ABCC6" "0000088503" "ABCC6" "0000088504" "ABCC6" "0000088505" "ABCC6" "0000088506" "ABCC6" "0000088507" "ABCC6" "0000088508" "ABCC6" "0000088509" "ABCC6" "0000088510" "ABCC6" "0000088511" "ABCC6" "0000088512" "ABCC6" "0000088513" "ABCC6" "0000088514" "ABCC6" "0000088515" "ABCC6" "0000088516" "ABCC6" "0000088517" "ABCC6" "0000088518" "ABCC6" "0000088519" "ABCC6" "0000088520" "ABCC6" "0000088521" "ABCC6" "0000088522" "ABCC6" "0000088523" "ABCC6" "0000088524" "ABCC6" "0000088525" "ABCC6" "0000088526" "ABCC6" "0000088527" "ABCC6" "0000088528" "ABCC6" "0000088529" "ABCC6" "0000088530" "ABCC6" "0000088531" "ABCC6" "0000088532" "ABCC6" "0000088533" "ABCC6" "0000088534" "ABCC6" "0000088535" "ABCC6" "0000088536" "ABCC6" "0000088537" "ABCC6" "0000088538" "ABCC6" "0000088539" "ABCC6" "0000088540" "ABCC6" "0000088541" "ABCC6" "0000088542" "ABCC6" "0000088543" "ABCC6" "0000088544" "ABCC6" "0000088545" "ABCC6" "0000088546" "ABCC6" "0000088547" "ABCC6" "0000088548" "ABCC6" "0000088549" "ABCC6" "0000088550" "ABCC6" "0000088551" "ABCC6" "0000088552" "ABCC6" "0000088553" "ABCC6" "0000088554" "ABCC6" "0000088555" "ABCC6" "0000088556" "ABCC6" "0000088557" "ABCC6" "0000088558" "ABCC6" "0000088559" "ABCC6" "0000088560" "ABCC6" "0000088561" "ABCC6" "0000088562" "ABCC6" "0000088563" "ABCC6" "0000088564" "ABCC6" "0000088565" "ABCC6" "0000088566" "ABCC6" "0000088567" "ABCC6" "0000088568" "ABCC6" "0000088569" "ABCC6" "0000088570" "ABCC6" "0000088571" "ABCC6" "0000088572" "ABCC6" "0000088573" "ABCC6" "0000088574" "ABCC6" "0000088575" "ABCC6" "0000088576" "ABCC6" "0000088577" "ABCC6" "0000088578" "ABCC6" "0000088579" "ABCC6" "0000088580" "ABCC6" "0000088581" "ABCC6" "0000088582" "ABCC6" "0000088583" "ABCC6" "0000088584" "ABCC6" "0000088585" "ABCC6" "0000088586" "ABCC6" "0000088587" "ABCC6" "0000088588" "ABCC6" "0000088589" "ABCC6" "0000088590" "ABCC6" "0000088591" "ABCC6" "0000088592" "ABCC6" "0000088593" "ABCC6" "0000088594" "ABCC6" "0000088595" "ABCC6" "0000088596" "ABCC6" "0000088597" "ABCC6" "0000088598" "ABCC6" "0000088599" "ABCC6" "0000088600" "ABCC6" "0000088601" "ABCC6" "0000088602" "ABCC6" "0000088603" "ABCC6" "0000088604" "ABCC6" "0000088605" "ABCC6" "0000088606" "ABCC6" "0000088607" "ABCC6" "0000088608" "ABCC6" "0000088609" "ABCC6" "0000088610" "ABCC6" "0000088611" "ABCC6" "0000088612" "ABCC6" "0000088613" "ABCC6" "0000088614" "ABCC6" "0000088615" "ABCC6" "0000088616" "ABCC6" "0000088617" "ABCC6" "0000088618" "ABCC6" "0000088619" "ABCC6" "0000088620" "ABCC6" "0000088621" "ABCC6" "0000088622" "ABCC6" "0000088623" "ABCC6" "0000088624" "ABCC6" "0000088625" "ABCC6" "0000088626" "ABCC6" "0000088627" "ABCC6" "0000088628" "ABCC6" "0000088629" "ABCC6" "0000088630" "ABCC6" "0000088631" "ABCC6" "0000088632" "ABCC6" "0000088633" "ABCC6" "0000088634" "ABCC6" "0000088635" "ABCC6" "0000088636" "ABCC6" "0000088637" "ABCC6" "0000088638" "ABCC6" "0000088639" "ABCC6" "0000088640" "ABCC6" "0000088641" "ABCC6" "0000088642" "ABCC6" "0000088643" "ABCC6" "0000088644" "ABCC6" "0000088645" "ABCC6" "0000088646" "ABCC6" "0000088647" "ABCC6" "0000088648" "ABCC6" "0000088649" "ABCC6" "0000088650" "ABCC6" "0000088651" "ABCC6" "0000088652" "ABCC6" "0000088653" "ABCC6" "0000088654" "ABCC6" "0000088655" "ABCC6" "0000088656" "ABCC6" "0000088657" "ABCC6" "0000088658" "ABCC6" "0000088659" "ABCC6" "0000088660" "ABCC6" "0000088661" "ABCC6" "0000088662" "ABCC6" "0000088663" "ABCC6" "0000088664" "ABCC6" "0000088665" "ABCC6" "0000088666" "ABCC6" "0000088667" "ABCC6" "0000088668" "ABCC6" "0000088669" "ABCC6" "0000088670" "ABCC6" "0000088671" "ABCC6" "0000088672" "ABCC6" "0000088673" "ABCC6" "0000088674" "ABCC6" "0000088675" "ABCC6" "0000088676" "ABCC6" "0000088677" "ABCC6" "0000088678" "ABCC6" "0000088679" "ABCC6" "0000088680" "ABCC6" "0000088681" "ABCC6" "0000088682" "ABCC6" "0000088683" "ABCC6" "0000088684" "ABCC6" "0000088685" "ABCC6" "0000088686" "ABCC6" "0000088687" "ABCC6" "0000088688" "ABCC6" "0000088689" "ABCC6" "0000088691" "ABCC6" "0000088692" "ABCC6" "0000088693" "ABCC6" "0000088694" "ABCC6" "0000088695" "ABCC6" "0000088696" "ABCC6" "0000088697" "ABCC6" "0000088698" "ABCC6" "0000088699" "ABCC6" "0000088700" "ABCC6" "0000088701" "ABCC6" "0000088702" "ABCC6" "0000088703" "ABCC6" "0000088704" "ABCC6" "0000088705" "ABCC6" "0000088706" "ABCC6" "0000088707" "ABCC6" "0000088708" "ABCC6" "0000088709" "ABCC6" "0000088710" "ABCC6" "0000088711" "ABCC6" "0000088712" "ABCC6" "0000088713" "ABCC6" "0000088714" "ABCC6" "0000088715" "ABCC6" "0000088716" "ABCC6" "0000088717" "ABCC6" "0000088718" "ABCC6" "0000088719" "ABCC6" "0000088720" "ABCC6" "0000088721" "ABCC6" "0000088722" "ABCC6" "0000088723" "ABCC6" "0000088724" "ABCC6" "0000088725" "ABCC6" "0000088726" "ABCC6" "0000088727" "ABCC6" "0000088728" "ABCC6" "0000088729" "ABCC6" "0000088730" "ABCC6" "0000088731" "ABCC6" "0000088732" "ABCC6" "0000088733" "ABCC6" "0000088734" "ABCC6" "0000088735" "ABCC6" "0000088736" "ABCC6" "0000088737" "ABCC6" "0000088738" "ABCC6" "0000088739" "ABCC6" "0000088740" "ABCC6" "0000088741" "ABCC6" "0000088742" "ABCC6" "0000088743" "ABCC6" "0000088744" "ABCC6" "0000088745" "ABCC6" "0000088746" "ABCC6" "0000088747" "ABCC6" "0000088748" "ABCC6" "0000088749" "ABCC6" "0000088750" "ABCC6" "0000088751" "ABCC6" "0000088752" "ABCC6" "0000088753" "ABCC6" "0000088754" "ABCC6" "0000088755" "ABCC6" "0000088756" "ABCC6" "0000088757" "ABCC6" "0000088758" "ABCC6" "0000088759" "ABCC6" "0000088760" "ABCC6" "0000088761" "ABCC6" "0000088762" "ABCC6" "0000088763" "ABCC6" "0000088764" "ABCC6" "0000088765" "ABCC6" "0000088766" "ABCC6" "0000088767" "ABCC6" "0000088768" "ABCC6" "0000088769" "ABCC6" "0000088770" "ABCC6" "0000088771" "ABCC6" "0000088772" "ABCC6" "0000088773" "ABCC6" "0000088774" "ABCC6" "0000088775" "ABCC6" "0000088776" "ABCC6" "0000088777" "ABCC6" "0000088778" "ABCC6" "0000088779" "ABCC6" "0000088780" "ABCC6" "0000088781" "ABCC6" "0000088782" "ABCC6" "0000088783" "ABCC6" "0000088784" "ABCC6" "0000088785" "ABCC6" "0000088786" "ABCC6" "0000088787" "ABCC6" "0000088788" "ABCC6" "0000088789" "ABCC6" "0000088790" "ABCC6" "0000088791" "ABCC6" "0000088792" "ABCC6" "0000088793" "ABCC6" "0000088794" "ABCC6" "0000088795" "ABCC6" "0000088796" "ABCC6" "0000088797" "ABCC6" "0000088798" "ABCC6" "0000088799" "ABCC6" "0000088800" "ABCC6" "0000088801" "ABCC6" "0000088802" "ABCC6" "0000088803" "ABCC6" "0000088804" "ABCC6" "0000088805" "ABCC6" "0000088806" "ABCC6" "0000088807" "ABCC6" "0000088808" "ABCC6" "0000088809" "ABCC6" "0000088810" "ABCC6" "0000088811" "ABCC6" "0000088812" "ABCC6" "0000088813" "ABCC6" "0000088814" "ABCC6" "0000088815" "ABCC6" "0000088816" "ABCC6" "0000088817" "ABCC6" "0000088818" "ABCC6" "0000088819" "ABCC6" "0000088820" "ABCC6" "0000088821" "ABCC6" "0000088822" "ABCC6" "0000088823" "ABCC6" "0000088824" "ABCC6" "0000088825" "ABCC6" "0000088826" "ABCC6" "0000088827" "ABCC6" "0000088828" "ABCC6" "0000088829" "ABCC6" "0000088830" "ABCC6" "0000088831" "ABCC6" "0000088832" "ABCC6" "0000088833" "ABCC6" "0000088834" "ABCC6" "0000088835" "ABCC6" "0000088836" "ABCC6" "0000088837" "ABCC6" "0000088838" "ABCC6" "0000088839" "ABCC6" "0000088840" "ABCC6" "0000088841" "ABCC6" "0000088842" "ABCC6" "0000088843" "ABCC6" "0000088844" "ABCC6" "0000088845" "ABCC6" "0000088846" "ABCC6" "0000088847" "ABCC6" "0000088848" "ABCC6" "0000088849" "ABCC6" "0000088850" "ABCC6" "0000088851" "ABCC6" "0000088852" "ABCC6" "0000088853" "ABCC6" "0000088854" "ABCC6" "0000088855" "ABCC6" "0000088856" "ABCC6" "0000088857" "ABCC6" "0000088858" "ABCC6" "0000088859" "ABCC6" "0000088860" "ABCC6" "0000088861" "ABCC6" "0000088862" "ABCC6" "0000088863" "ABCC6" "0000088864" "ABCC6" "0000088865" "ABCC6" "0000088866" "ABCC6" "0000088867" "ABCC6" "0000088868" "ABCC6" "0000088869" "ABCC6" "0000088870" "ABCC6" "0000088871" "ABCC6" "0000088872" "ABCC6" "0000088873" "ABCC6" "0000088874" "ABCC6" "0000088875" "ABCC6" "0000088876" "ABCC6" "0000088877" "ABCC6" "0000088878" "ABCC6" "0000088879" "ABCC6" "0000088880" "ABCC6" "0000088881" "ABCC6" "0000088882" "ABCC6" "0000088883" "ABCC6" "0000088884" "ABCC6" "0000088885" "ABCC6" "0000088886" "ABCC6" "0000088887" "ABCC6" "0000088888" "ABCC6" "0000088889" "ABCC6" "0000088890" "ABCC6" "0000088891" "ABCC6" "0000088892" "ABCC6" "0000088893" "ABCC6" "0000088894" "ABCC6" "0000088895" "ABCC6" "0000088896" "ABCC6" "0000088897" "ABCC6" "0000088898" "ABCC6" "0000088899" "ABCC6" "0000088900" "ABCC6" "0000088901" "ABCC6" "0000088902" "ABCC6" "0000088903" "ABCC6" "0000088904" "ABCC6" "0000088905" "ABCC6" "0000088906" "ABCC6" "0000088907" "ABCC6" "0000088908" "ABCC6" "0000088909" "ABCC6" "0000088910" "ABCC6" "0000088911" "ABCC6" "0000088912" "ABCC6" "0000088913" "ABCC6" "0000088914" "ABCC6" "0000088915" "ABCC6" "0000088916" "ABCC6" "0000088917" "ABCC6" "0000088918" "ABCC6" "0000088919" "ABCC6" "0000088920" "ABCC6" "0000088921" "ABCC6" "0000088922" "ABCC6" "0000088923" "ABCC6" "0000088924" "ABCC6" "0000088925" "ABCC6" "0000088926" "ABCC6" "0000088927" "ABCC6" "0000088928" "ABCC6" "0000088929" "ABCC6" "0000088930" "ABCC6" "0000088931" "ABCC6" "0000088932" "ABCC6" "0000088933" "ABCC6" "0000088934" "ABCC6" "0000088935" "ABCC6" "0000088936" "ABCC6" "0000088937" "ABCC6" "0000088938" "ABCC6" "0000088939" "ABCC6" "0000088940" "ABCC6" "0000088941" "ABCC6" "0000088942" "ABCC6" "0000088943" "ABCC6" "0000088944" "ABCC6" "0000088945" "ABCC6" "0000088946" "ABCC6" "0000088947" "ABCC6" "0000088948" "ABCC6" "0000088949" "ABCC6" "0000088950" "ABCC6" "0000088951" "ABCC6" "0000088952" "ABCC6" "0000088953" "ABCC6" "0000088954" "ABCC6" "0000088955" "ABCC6" "0000088956" "ABCC6" "0000088957" "ABCC6" "0000088958" "ABCC6" "0000088959" "ABCC6" "0000088960" "ABCC6" "0000088961" "ABCC6" "0000088962" "ABCC6" "0000088963" "ABCC6" "0000088964" "ABCC6" "0000088965" "ABCC6" "0000088966" "ABCC6" "0000088967" "ABCC6" "0000088968" "ABCC6" "0000088969" "ABCC6" "0000088970" "ABCC6" "0000088971" "ABCC6" "0000088972" "ABCC6" "0000088973" "ABCC6" "0000088974" "ABCC6" "0000088975" "ABCC6" "0000088976" "ABCC6" "0000088977" "ABCC6" "0000088978" "ABCC6" "0000088979" "ABCC6" "0000088980" "ABCC6" "0000088981" "ABCC6" "0000088982" "ABCC6" "0000088983" "ABCC6" "0000088984" "ABCC6" "0000088985" "ABCC6" "0000088986" "ABCC6" "0000088987" "ABCC6" "0000088988" "ABCC6" "0000088989" "ABCC6" "0000088990" "ABCC6" "0000088991" "ABCC6" "0000088992" "ABCC6" "0000088993" "ABCC6" "0000088994" "ABCC6" "0000088995" "ABCC6" "0000088996" "ABCC6" "0000088997" "ABCC6" "0000088998" "ABCC6" "0000088999" "ABCC6" "0000089000" "ABCC6" "0000089001" "ABCC6" "0000089002" "ABCC6" "0000089003" "ABCC6" "0000089004" "ABCC6" "0000089005" "ABCC6" "0000089006" "ABCC6" "0000089007" "ABCC6" "0000089008" "ABCC6" "0000089009" "ABCC6" "0000089010" "ABCC6" "0000089011" "ABCC6" "0000089014" "ABCC6" "0000089015" "ABCC6" "0000089016" "ABCC6" "0000089017" "ABCC6" "0000089018" "ABCC6" "0000089019" "ABCC6" "0000089020" "ABCC6" "0000089021" "ABCC6" "0000089022" "ABCC6" "0000089023" "ABCC6" "0000089024" "ABCC6" "0000089025" "ABCC6" "0000089026" "ABCC6" "0000089027" "ABCC6" "0000089028" "ABCC6" "0000089029" "ABCC6" "0000089030" "ABCC6" "0000089031" "ABCC6" "0000089032" "ABCC6" "0000089033" "ABCC6" "0000089034" "ABCC6" "0000089035" "ABCC6" "0000089036" "ABCC6" "0000089037" "ABCC6" "0000089038" "ABCC6" "0000089039" "ABCC6" "0000089040" "ABCC6" "0000089041" "ABCC6" "0000089042" "ABCC6" "0000089043" "ABCC6" "0000089044" "ABCC6" "0000089045" "ABCC6" "0000089046" "ABCC6" "0000089047" "ABCC6" "0000089048" "ABCC6" "0000089049" "ABCC6" "0000089050" "ABCC6" "0000089051" "ABCC6" "0000089052" "ABCC6" "0000089053" "ABCC6" "0000089054" "ABCC6" "0000089055" "ABCC6" "0000089056" "ABCC6" "0000089057" "ABCC6" "0000089058" "ABCC6" "0000089059" "ABCC6" "0000089060" "ABCC6" "0000089061" "ABCC6" "0000089062" "ABCC6" "0000089063" "ABCC6" "0000089064" "ABCC6" "0000089065" "ABCC6" "0000089066" "ABCC6" "0000089067" "ABCC6" "0000089068" "ABCC6" "0000089069" "ABCC6" "0000089070" "ABCC6" "0000089071" "ABCC6" "0000089072" "ABCC6" "0000089073" "ABCC6" "0000089074" "ABCC6" "0000089075" "ABCC6" "0000089076" "ABCC6" "0000089077" "ABCC6" "0000089078" "ABCC6" "0000089079" "ABCC6" "0000089080" "ABCC6" "0000089081" "ABCC6" "0000089082" "ABCC6" "0000089083" "ABCC6" "0000089084" "ABCC6" "0000089085" "ABCC6" "0000100942" "ABCC6" "0000100943" "ABCC6" "0000100944" "ABCC6" "0000100945" "ABCC6" "0000100946" "ABCC6" "0000100947" "ABCC6" "0000100948" "ABCC6" "0000100949" "ABCC6" "0000100950" "ABCC6" "0000100951" "ABCC6" "0000100952" "ABCC6" "0000100953" "ABCC6" "0000100954" "ABCC6" "0000100955" "ABCC6" "0000100956" "ABCC6" "0000100957" "ABCC6" "0000100958" "ABCC6" "0000100959" "ABCC6" "0000100960" "ABCC6" "0000100961" "ABCC6" "0000100962" "ABCC6" "0000100963" "ABCC6" "0000100964" "ABCC6" "0000100965" "ABCC6" "0000100966" "ABCC6" "0000100967" "ABCC6" "0000100968" "ABCC6" "0000100969" "ABCC6" "0000100970" "ABCC6" "0000100971" "ABCC6" "0000100972" "ABCC6" "0000100973" "ABCC6" "0000100974" "ABCC6" "0000100975" "ABCC6" "0000100976" "ABCC6" "0000100977" "ABCC6" "0000100978" "ABCC6" "0000100979" "ABCC6" "0000100980" "ABCC6" "0000100981" "ABCC6" "0000100982" "ABCC6" "0000100983" "ABCC6" "0000100984" "ABCC6" "0000100985" "ABCC6" "0000100986" "ABCC6" "0000100987" "ABCC6" "0000100988" "ABCC6" "0000100989" "ABCC6" "0000100990" "ABCC6" "0000100991" "ABCC6" "0000100992" "ABCC6" "0000100993" "ABCC6" "0000100994" "ABCC6" "0000100995" "ABCC6" "0000100996" "ABCC6" "0000100997" "ABCC6" "0000100998" "ABCC6" "0000100999" "ABCC6" "0000101000" "ABCC6" "0000101001" "ABCC6" "0000101002" "ABCC6" "0000101003" "ABCC6" "0000101004" "ABCC6" "0000101005" "ABCC6" "0000101006" "ABCC6" "0000101007" "ABCC6" "0000101008" "ABCC6" "0000101009" "ABCC6" "0000101010" "ABCC6" "0000101011" "ABCC6" "0000101012" "ABCC6" "0000101013" "ABCC6" "0000101014" "ABCC6" "0000101018" "ABCC6" "0000101019" "ABCC6" "0000101020" "ABCC6" "0000101021" "ABCC6" "0000101022" "ABCC6" "0000300751" "ARHGEF18" "0000310067" "ABCC6" "0000310068" "ABCC6" "0000310069" "ABCC6" "0000310070" "ABCC6" "0000310071" "ABCC6" "0000329322" "ABCC6" "0000332956" "ABCC6" "0000335499" "ABCC6" "0000335500" "ABCC6" "0000383025" "ABCC6" "0000388009" "ABCC6" "0000391397" "ABCC6" "0000391398" "ABCC6" "0000392009" "ABCC6" "0000392041" "ABCC6" "0000392042" "ABCC6" "0000392044" "ABCC6" "0000392045" "ABCC6" "0000392046" "ABCC6" "0000395619" "ABCC6" "0000396046" "ABCC6" "0000396051" "ABCC6" "0000410404" "ABCC6" "0000410405" "ABCC6" "0000410406" "ABCC6" "0000410407" "ABCC6" "0000410408" "ABCC6" "0000410409" "ABCC6" "0000410410" "ABCC6" "0000410411" "ABCC6" "0000410412" "ABCC6" "0000410413" "ABCC6" "0000410414" "ABCC6" "0000410415" "ABCC6" "0000410416" "ABCC6" "0000410417" "ABCC6" "0000410418" "ABCC6" "0000410419" "ABCC6" "0000410420" "ABCC6" "0000410421" "ABCC6" "0000410422" "ABCC6" "0000410423" "ABCC6" "0000410424" "ABCC6" "0000410425" "ABCC6" "0000410426" "ABCC6" "0000410427" "ABCC6" "0000410428" "ABCC6" "0000410429" "ABCC6" "0000410430" "ABCC6" "0000410431" "ABCC6" "0000410432" "ABCC6" "0000410433" "ABCC6" "0000410434" "ABCC6" "0000410435" "ABCC6" "0000410436" "ABCC6" "0000410437" "ABCC6" "0000410438" "ABCC6" "0000410439" "ABCC6" "0000410440" "ABCC6" "0000410441" "ABCC6" "0000410442" "ABCC6" "0000410443" "ABCC6" "0000410444" "ABCC6" "0000410445" "ABCC6" "0000410446" "ABCC6" "0000410447" "ABCC6" "0000410448" "ABCC6" "0000410449" "ABCC6" "0000410450" "ABCC6" "0000410451" "ABCC6" "0000410452" "ABCC6" "0000410453" "ABCC6" "0000410454" "ABCC6" "0000410455" "ABCC6" "0000410456" "ABCC6" "0000410457" "ABCC6" "0000410458" "ABCC6" "0000410459" "ABCC6" "0000428242" "AIPL1" ## 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 = 1792 "{{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}}" "0000013531" "3" "30" "16" "16286362" "16286362" "subst" "0" "00037" "ABCC6_000402" "g.16286362C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16192505C>T" "" "likely benign" "" "0000013532" "3" "30" "16" "16291627" "16291627" "subst" "0" "00037" "ABCC6_000401" "g.16291627G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16197770G>A" "" "likely benign" "" "0000079435" "21" "90" "16" "15494704" "16388460" "del" "0" "00006" "MYH11_000003" "g.15494704_16388460del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "g.15400847_16294603del" "" "pathogenic" "" "0000079471" "0" "90" "16" "14805381" "16561151" "dup" "0" "00006" "MYH11_000002" "g.14805381_16561151dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "g.14711524_16467294dup" "" "pathogenic" "" "0000140003" "0" "50" "16" "16315689" "16315689" "subst" "1.6852E-5" "00240" "ABCC6_000221" "g.16315689C>T" "" "" "" "" "" "Germline" "" "rs72657702" "0" "" "" "g.16221832C>T" "" "VUS" "" "0000140004" "0" "50" "16" "16315620" "16315620" "del" "4.13199E-6" "00240" "ABCC6_000001" "g.16315620del" "" "" "" "" "" "Germline" "" "rs72664223" "0" "" "" "g.16221763del" "" "VUS" "" "0000140005" "0" "50" "16" "16315612" "16315612" "subst" "2.0607E-5" "00240" "ABCC6_000002" "g.16315612C>G" "" "" "" "" "" "Germline" "" "rs72653752" "0" "" "" "g.16221755C>G" "" "VUS" "" "0000140008" "0" "50" "16" "16313805" "16313805" "subst" "0" "00240" "ABCC6_000342" "g.16313805C>G" "" "" "" "" "" "Germline" "" "rs72664203" "0" "" "" "g.16219948C>G" "" "VUS" "" "0000140009" "0" "50" "16" "16313803" "16313805" "del" "0" "00240" "ABCC6_000004" "g.16313803_16313805del" "" "" "" "" "" "Germline" "" "rs72664225" "0" "" "" "g.16219946_16219948del" "" "VUS" "" "0000140010" "0" "50" "16" "16313653" "16313653" "subst" "0.0235092" "00240" "ABCC6_000222" "g.16313653G>A" "" "" "" "" "" "Germline" "" "rs56019914" "0" "" "" "g.16219796G>A" "" "VUS" "" "0000140011" "0" "50" "16" "16313545" "16313545" "subst" "0.0248278" "00240" "ABCC6_000223" "g.16313545C>T" "" "" "" "" "" "Germline" "" "rs55778939" "0" "" "" "g.16219688C>T" "" "VUS" "" "0000140012" "0" "50" "16" "16313499" "16313499" "subst" "1.88034E-5" "00240" "ABCC6_000005" "g.16313499C>T" "" "" "" "" "" "Germline" "" "rs72653753" "0" "" "" "g.16219642C>T" "" "VUS" "" "0000140013" "0" "50" "16" "16313412" "16313412" "subst" "0" "00240" "ABCC6_000006" "g.16313412G>A" "" "" "" "" "" "Germline" "" "rs2606921" "0" "" "" "g.16219555G>A" "" "VUS" "" "0000140014" "0" "50" "16" "16308351" "16308351" "subst" "0.0574747" "00240" "ABCC6_000224" "g.16308351G>A" "" "" "" "" "" "Germline" "" "rs2239319" "0" "" "" "g.16214494G>A" "" "VUS" "" "0000140015" "0" "50" "16" "16308232" "16308232" "subst" "0" "00240" "ABCC6_000007" "g.16308232C>T" "" "" "" "" "" "Germline" "" "rs72664281" "0" "" "" "g.16214375C>T" "" "VUS" "" "0000140016" "0" "50" "16" "16308158" "16308158" "subst" "0.00232644" "00240" "ABCC6_000225" "g.16308158G>A" "" "" "" "" "" "Germline" "" "rs72664290" "0" "" "" "g.16214301G>A" "" "VUS" "" "0000140017" "0" "50" "16" "16306085" "16306085" "subst" "0" "00240" "ABCC6_000008" "g.16306085C>T" "" "" "" "" "" "Germline" "" "rs72657697" "0" "" "" "g.16212228C>T" "" "VUS" "" "0000140019" "0" "50" "16" "16306050" "16306050" "subst" "0" "00240" "ABCC6_000010" "g.16306050C>A" "" "" "" "" "" "Germline" "" "rs72653754" "0" "" "" "g.16212193C>A" "" "VUS" "" "0000140025" "0" "50" "16" "16302703" "16302703" "subst" "0" "00240" "ABCC6_000011" "g.16302703C>T" "" "" "" "" "" "Germline" "" "rs72653755" "0" "" "" "g.16208846C>T" "" "VUS" "" "0000140026" "0" "50" "16" "16302655" "16302655" "subst" "0" "00240" "ABCC6_000012" "g.16302655C>A" "" "" "" "" "" "Germline" "" "rs72650697" "0" "" "" "g.16208798C>A" "" "VUS" "" "0000140027" "0" "50" "16" "16302637" "16302637" "subst" "0.000792999" "00240" "ABCC6_000013" "g.16302637G>A" "" "" "" "" "" "Germline" "" "rs72653756" "0" "" "" "g.16208780G>A" "" "VUS" "" "0000140028" "0" "50" "16" "16302625" "16302625" "subst" "1.21959E-5" "00240" "ABCC6_000014" "g.16302625G>A" "" "" "" "" "" "Germline" "" "rs72653757" "0" "" "" "g.16208768G>A" "" "VUS" "" "0000140029" "0" "50" "16" "16302586" "16302586" "subst" "0.042575" "00240" "ABCC6_000015" "g.16302586T>C" "" "" "" "" "" "Germline" "" "rs72657698" "0" "" "" "g.16208729T>C" "" "VUS" "" "0000140030" "0" "50" "16" "16297424" "16297424" "subst" "0" "00240" "ABCC6_000016" "g.16297424T>C" "" "" "" "" "" "Germline" "" "rs4780606" "0" "" "" "g.16203567T>C" "" "VUS" "" "0000140031" "0" "50" "16" "16297410" "16297410" "subst" "0" "00240" "ABCC6_000017" "g.16297410G>A" "" "" "" "" "" "Germline" "" "rs4780605" "0" "" "" "g.16203553G>A" "" "VUS" "" "0000140032" "0" "50" "16" "16297377" "16297401" "del" "0" "00240" "ABCC6_000018" "g.16297377_16297401del" "" "" "" "" "" "Germline" "" "rs74315139" "0" "" "" "g.16203520_16203544del" "" "VUS" "" "0000140033" "0" "50" "16" "16297327" "16297327" "dup" "0" "00240" "ABCC6_000019" "g.16297327dup" "" "" "" "" "" "Germline" "" "rs72664216" "0" "" "" "g.16203470dup" "" "VUS" "" "0000140034" "0" "50" "16" "16297314" "16297314" "subst" "1.2199E-5" "00240" "ABCC6_000020" "g.16297314G>T" "" "" "" "" "" "Germline" "" "rs78678589" "0" "" "" "g.16203457G>T" "" "VUS" "" "0000140035" "0" "50" "16" "16297314" "16297314" "subst" "0" "00240" "ABCC6_000021" "g.16297314G>C" "" "" "" "" "" "Germline" "" "rs78678589" "0" "" "" "g.16203457G>C" "" "VUS" "" "0000140036" "0" "50" "16" "16297310" "16297310" "subst" "0.00122248" "00240" "ABCC6_000022" "g.16297310T>C" "" "" "" "" "" "Germline" "" "rs72657699" "0" "" "" "g.16203453T>C" "" "VUS" "" "0000140037" "0" "50" "16" "16297305" "16297305" "del" "0" "00240" "ABCC6_000023" "g.16297305del" "" "" "" "" "" "Germline" "" "rs72664226" "0" "" "" "g.16203448del" "" "VUS" "" "0000140038" "0" "50" "16" "16297265" "16297265" "del" "0" "00240" "ABCC6_000339" "g.16297265del" "" "" "" "" "" "Germline" "" "rs72664205" "0" "" "" "g.16203408del" "" "VUS" "" "0000140039" "0" "50" "16" "16297265" "16297266" "del" "0" "00240" "ABCC6_000340" "g.16297265_16297266del" "" "" "" "" "" "Germline" "" "rs72664204" "0" "" "" "g.16203408_16203409del" "" "VUS" "" "0000140040" "0" "50" "16" "16295970" "16295970" "subst" "4.0662E-6" "00240" "ABCC6_000024" "g.16295970A>C" "" "" "" "" "" "Germline" "" "rs72653758" "0" "" "" "g.16202113A>C" "" "VUS" "" "0000140041" "0" "50" "16" "16295957" "16295957" "subst" "0.00551057" "00240" "ABCC6_000025" "g.16295957T>C" "" "" "" "" "" "Germline" "" "rs72664283" "0" "" "" "g.16202100T>C" "" "VUS" "" "0000140042" "0" "50" "16" "16295947" "16295947" "subst" "0" "00240" "ABCC6_000026" "g.16295947G>A" "" "" "" "" "" "Germline" "" "rs72650698" "0" "" "" "g.16202090G>A" "" "VUS" "" "0000140045" "0" "50" "16" "16295926" "16295926" "subst" "0.000321206" "00240" "ABCC6_000028" "g.16295926T>C" "" "" "" "" "" "Germline" "" "rs72653760" "0" "" "" "g.16202069T>C" "" "VUS" "" "0000140046" "0" "50" "16" "16295902" "16295902" "subst" "4.47304E-5" "00240" "ABCC6_000030" "g.16295902G>A" "" "" "" "" "" "Germline" "" "rs72650699" "0" "" "" "g.16202045G>A" "" "VUS" "" "0000140047" "0" "50" "16" "16295893" "16295893" "subst" "4.47333E-5" "00240" "ABCC6_000031" "g.16295893A>G" "" "" "" "" "" "Germline" "" "rs72664284" "0" "" "" "g.16202036A>G" "" "VUS" "" "0000140048" "0" "50" "16" "16295890" "16295890" "subst" "5.28601E-5" "00240" "ABCC6_000032" "g.16295890G>A" "" "" "" "" "" "Germline" "" "rs72653761" "0" "" "" "g.16202033G>A" "" "VUS" "" "0000140049" "0" "50" "16" "16295863" "16295863" "subst" "0.00557184" "00240" "ABCC6_000033" "g.16295863T>C" "" "" "" "" "" "Germline" "" "rs72653762" "0" "" "" "g.16202006T>C" "" "VUS" "" "0000140050" "0" "50" "16" "16295858" "16295858" "subst" "0" "00240" "ABCC6_000034" "g.16295858C>G" "" "" "" "" "" "Germline" "" "rs72653763" "0" "" "" "g.16202001C>G" "" "VUS" "" "0000140051" "0" "50" "16" "16295852" "16295852" "subst" "0" "00240" "ABCC6_000231" "g.16295852G>A" "" "" "" "" "" "Germline" "" "rs72664295" "0" "" "" "g.16201995G>A" "" "VUS" "" "0000140052" "0" "50" "16" "16315741" "16315741" "del" "0" "00240" "ABCC6_000338" "g.16315741del" "" "" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "rs72664224" "0" "" "" "g.16221884del" "" "VUS" "" "0000140053" "0" "50" "16" "16292024" "16292024" "subst" "0" "00240" "ABCC6_000035" "g.16292024T>C" "" "" "" "" "" "Germline" "" "rs72653764" "0" "" "" "g.16198167T>C" "" "VUS" "" "0000140054" "0" "50" "16" "16291983" "16291983" "subst" "0" "00240" "ABCC6_000036" "g.16291983A>C" "" "" "" "" "" "Germline" "" "rs9930886" "0" "" "" "g.16198126A>C" "" "VUS" "" "0000140055" "0" "50" "16" "16291972" "16291972" "subst" "0" "00240" "ABCC6_000037" "g.16291972A>G" "" "" "" "" "" "Germline" "" "rs72653765" "0" "" "" "g.16198115A>G" "" "VUS" "" "0000140056" "0" "50" "16" "16291971" "16291971" "subst" "0.286076" "00240" "ABCC6_000038" "g.16291971C>T" "" "" "" "" "" "Germline" "" "rs9940825" "0" "" "" "g.16198114C>T" "" "VUS" "" "0000140057" "0" "50" "16" "16291898" "16291898" "subst" "0" "00240" "ABCC6_000039" "g.16291898A>C" "" "" "" "" "" "Germline" "" "rs72653766" "0" "" "" "g.16198041A>C" "" "VUS" "" "0000140058" "0" "50" "16" "16291871" "16291871" "subst" "0.800003" "00240" "ABCC6_000232" "g.16291871G>C" "" "" "" "" "" "Germline" "" "rs9940089" "0" "" "" "g.16198014G>C" "" "VUS" "" "0000140059" "0" "50" "16" "16291858" "16291858" "subst" "0.778896" "00240" "ABCC6_000233" "g.16291858G>C" "" "" "" "" "" "Germline" "" "rs12929920" "0" "" "" "g.16198001G>C" "" "VUS" "" "0000140060" "0" "50" "16" "16291816" "16291816" "subst" "0" "00240" "ABCC6_000234" "g.16291816C>G" "" "" "" "" "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." "Germline" "" "rs58394656" "0" "" "" "g.16197959C>G" "" "VUS" "" "0000140061" "0" "50" "16" "16290495" "16290495" "subst" "0" "00240" "ABCC6_000235" "g.16290495A>G" "" "" "" "" "" "Germline" "" "rs4780600" "0" "" "" "g.16196638A>G" "" "VUS" "" "0000140062" "0" "50" "16" "16290377" "16290377" "subst" "0" "00240" "ABCC6_000236" "g.16290377C>T" "" "" "" "" "" "Germline" "" "rs4780599" "0" "" "" "g.16196520C>T" "" "VUS" "" "0000140063" "0" "50" "16" "16290330" "16290330" "subst" "0" "00240" "ABCC6_000237" "g.16290330G>A" "" "" "" "" "" "Germline" "" "rs4780597" "0" "" "" "g.16196473G>A" "" "VUS" "" "0000140064" "0" "50" "16" "16289726" "16289726" "subst" "0" "00240" "ABCC6_000238" "g.16289726C>A" "" "" "" "" "" "Germline" "" "rs12920589" "0" "" "" "g.16195869C>A" "" "VUS" "" "0000140065" "0" "50" "16" "16289597" "16289597" "subst" "0" "00240" "ABCC6_000239" "g.16289597T>G" "" "" "" "" "" "Germline" "" "rs8056533" "0" "" "" "g.16195740T>G" "" "VUS" "" "0000140066" "0" "50" "16" "16289532" "16289532" "subst" "0" "00240" "ABCC6_000240" "g.16289532T>C" "" "" "" "" "" "Germline" "" "rs8056397" "0" "" "" "g.16195675T>C" "" "VUS" "" "0000140067" "0" "50" "16" "16289126" "16289126" "subst" "0" "00240" "ABCC6_000241" "g.16289126G>C" "" "" "" "" "" "Germline" "" "rs7190447" "0" "" "" "g.16195269G>C" "" "VUS" "" "0000140068" "0" "50" "16" "16288756" "16288756" "subst" "0" "00240" "ABCC6_000242" "g.16288756C>T" "" "" "" "" "" "Germline" "" "rs7186601" "0" "" "" "g.16194899C>T" "" "VUS" "" "0000140069" "0" "50" "16" "16286755" "16286755" "subst" "0" "00240" "ABCC6_000040" "g.16286755C>G" "" "" "" "" "" "Germline" "" "rs67996819" "0" "" "" "g.16192898C>G" "" "VUS" "" "0000140070" "0" "50" "16" "16286730" "16286730" "subst" "0" "00240" "ABCC6_000041" "g.16286730A>T" "" "" "" "" "" "Germline" "" "rs72653767" "0" "" "" "g.16192873A>T" "" "VUS" "" "0000140071" "0" "50" "16" "16286614" "16286614" "subst" "0" "00240" "ABCC6_000243" "g.16286614C>G" "" "" "" "" "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." "Germline" "" "rs6498618" "0" "" "" "g.16192757C>G" "" "VUS" "" "0000140072" "0" "50" "16" "16284439" "16284439" "subst" "0" "00240" "ABCC6_000244" "g.16284439T>C" "" "" "" "" "" "Germline" "" "rs7199864" "0" "" "" "g.16190582T>C" "" "VUS" "" "0000140073" "0" "50" "16" "16284272" "16284272" "subst" "0.987638" "00240" "ABCC6_000245" "g.16284272C>T" "" "" "" "" "" "Germline" "" "rs7193932" "0" "" "" "g.16190415C>T" "" "VUS" "" "0000140074" "0" "50" "16" "16284269" "16284269" "subst" "8.20284E-6" "00240" "ABCC6_000246" "g.16284269G>T" "" "" "" "" "" "Germline" "" "rs72664296" "0" "" "" "g.16190412G>T" "" "VUS" "" "0000140075" "0" "50" "16" "16284265" "16284265" "subst" "0.339173" "00240" "ABCC6_000247" "g.16284265T>C" "" "" "" "" "" "Germline" "" "rs2239322" "0" "" "" "g.16190408T>C" "" "VUS" "" "0000140076" "0" "50" "16" "16284246" "16284246" "subst" "0" "00240" "ABCC6_000248" "g.16284246G>T" "" "" "" "" "" "Germline" "" "rs72664297" "0" "" "" "g.16190389G>T" "" "VUS" "" "0000140077" "0" "50" "16" "16284196" "16284196" "subst" "1.62479E-5" "00240" "ABCC6_000042" "g.16284196C>T" "" "" "" "" "" "Germline" "" "rs72653768" "0" "" "" "g.16190339C>T" "" "VUS" "" "0000140078" "0" "50" "16" "16284172" "16284172" "subst" "8.12328E-6" "00240" "ABCC6_000043" "g.16284172A>T" "" "" "" "" "" "Germline" "" "rs72653769" "0" "" "" "g.16190315A>T" "" "VUS" "" "0000140079" "0" "50" "16" "16284165" "16284165" "subst" "8.12315E-6" "00240" "ABCC6_000044" "g.16284165G>T" "" "" "" "" "" "Germline" "" "rs72653770" "0" "" "" "g.16190308G>T" "" "VUS" "" "0000140080" "0" "50" "16" "16284151" "16284151" "subst" "0" "00240" "ABCC6_000045" "g.16284151T>A" "" "" "" "" "" "Germline" "" "rs72653771" "0" "" "" "g.16190294T>A" "" "VUS" "" "0000140081" "0" "50" "16" "16284116" "16284116" "subst" "0.00105218" "00240" "ABCC6_000046" "g.16284116C>T" "" "" "" "" "" "Germline" "" "rs59157279" "0" "" "" "g.16190259C>T" "" "VUS" "" "0000140082" "0" "50" "16" "16284104" "16284104" "subst" "4.06336E-5" "00240" "ABCC6_000047" "g.16284104G>A" "" "" "" "" "" "Germline" "" "rs72650700" "0" "" "" "g.16190247G>A" "" "VUS" "" "0000140083" "0" "50" "16" "16284103" "16284103" "subst" "8.53221E-5" "00240" "ABCC6_000048" "g.16284103C>T" "" "" "" "" "" "Germline" "" "rs72653772" "0" "" "" "g.16190246C>T" "" "VUS" "" "0000140084" "0" "50" "16" "16284081" "16284081" "dup" "0" "00240" "ABCC6_000049" "g.16284081dup" "" "" "" "" "" "Germline" "" "rs72664217" "0" "" "" "g.16190224dup" "" "VUS" "" "0000140085" "0" "50" "16" "16284053" "16284053" "subst" "0" "00240" "ABCC6_000050" "g.16284053A>G" "" "" "" "" "" "Germline" "" "rs72653773" "0" "" "" "g.16190196A>G" "" "VUS" "" "0000140086" "0" "50" "16" "16283071" "16283071" "subst" "0" "00240" "ABCC6_000249" "g.16283071C>T" "" "" "" "" "" "Germline" "" "rs2238469" "0" "" "" "g.16189214C>T" "" "VUS" "" "0000140087" "0" "50" "16" "16282943" "16282943" "subst" "0" "00240" "ABCC6_000250" "g.16282943G>A" "" "" "" "" "" "Germline" "" "rs11859889" "0" "" "" "g.16189086G>A" "" "VUS" "" "0000140088" "0" "50" "16" "16282815" "16282815" "subst" "4.07163E-6" "00240" "ABCC6_000051" "g.16282815A>G" "" "" "" "" "" "Germline" "" "rs72653774" "0" "" "" "g.16188958A>G" "" "VUS" "" "0000140089" "0" "50" "16" "16282782" "16282782" "subst" "0" "00240" "ABCC6_000052" "g.16282782A>G" "" "" "" "" "" "Germline" "" "rs72653775" "0" "" "" "g.16188925A>G" "" "VUS" "" "0000140090" "0" "50" "16" "16282764" "16282764" "subst" "0.000121904" "00240" "ABCC6_000053" "g.16282764A>G" "" "" "" "" "" "Germline" "" "rs66864704" "0" "" "" "g.16188907A>G" "" "VUS" "" "0000140091" "0" "50" "16" "16282307" "16282307" "subst" "0" "00240" "ABCC6_000251" "g.16282307G>A" "" "" "" "" "" "Germline" "" "rs3851722" "0" "" "" "g.16188450G>A" "" "VUS" "" "0000140092" "0" "50" "16" "16281154" "16281154" "subst" "0" "00240" "ABCC6_000252" "g.16281154C>A" "" "" "" "" "" "Germline" "" "rs4369696" "0" "" "" "g.16187297C>A" "" "VUS" "" "0000140093" "0" "50" "16" "16281097" "16281097" "subst" "0" "00240" "ABCC6_000253" "g.16281097A>T" "" "" "" "" "" "Germline" "" "rs72664206" "0" "" "" "g.16187240A>T" "" "VUS" "" "0000140094" "0" "50" "16" "16281067" "16281067" "subst" "8.20015E-6" "00240" "ABCC6_000054" "g.16281067G>A" "" "" "" "" "" "Germline" "" "rs72653776" "0" "" "" "g.16187210G>A" "" "VUS" "" "0000140095" "0" "50" "16" "16281050" "16281050" "subst" "2.85714E-5" "00240" "ABCC6_000055" "g.16281050G>A" "" "" "" "" "" "Germline" "" "rs72653777" "0" "" "" "g.16187193G>A" "" "VUS" "" "0000140096" "0" "50" "16" "16281010" "16281010" "subst" "0" "00240" "ABCC6_000056" "g.16281010A>C" "" "" "" "" "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." "Germline" "" "rs72653778" "0" "" "" "g.16187153A>C" "" "VUS" "" "0000140097" "0" "50" "16" "16281007" "16281007" "subst" "0.425009" "00240" "ABCC6_000057" "g.16281007A>G" "" "" "" "" "" "Germline" "" "rs12931472" "0" "" "" "g.16187150A>G" "" "VUS" "" "0000140098" "0" "50" "16" "16280992" "16280992" "dup" "0" "00240" "ABCC6_000058" "g.16280992dup" "" "" "" "" "" "Germline" "" "rs72664218" "0" "" "" "g.16187135dup" "" "VUS" "" "0000140099" "0" "50" "16" "16280921" "16280921" "subst" "0" "00240" "ABCC6_000254" "g.16280921T>C" "" "" "" "" "" "Germline" "" "rs8056103" "0" "" "" "g.16187064T>C" "" "VUS" "" "0000140100" "0" "50" "16" "16280776" "16280776" "subst" "0" "00240" "ABCC6_000255" "g.16280776G>C" "" "" "" "" "" "Germline" "" "rs212077" "0" "" "" "g.16186919G>C" "" "VUS" "" "0000140101" "0" "50" "16" "16280405" "16280405" "subst" "0" "00240" "ABCC6_000256" "g.16280405C>T" "" "" "" "" "" "Germline" "" "rs7191300" "0" "" "" "g.16186548C>T" "" "VUS" "" "0000140102" "0" "50" "16" "16279714" "16279714" "subst" "0" "00240" "ABCC6_000257" "g.16279714G>A" "" "" "" "" "" "Germline" "" "rs9932823" "0" "" "" "g.16185857G>A" "" "VUS" "" "0000140103" "0" "50" "16" "16279283" "16279283" "subst" "0" "00240" "ABCC6_000258" "g.16279283G>A" "" "" "" "" "" "Germline" "" "rs212075" "0" "" "" "g.16185426G>A" "" "VUS" "" "0000140104" "0" "50" "16" "16279048" "16279048" "subst" "0" "00240" "ABCC6_000259" "g.16279048G>C" "" "" "" "" "" "Germline" "" "rs150467" "0" "" "" "g.16185191G>C" "" "VUS" "" "0000140105" "0" "50" "16" "16278983" "16278983" "del" "0" "00240" "ABCC6_000260" "g.16278983del" "" "" "" "" "" "Germline" "" "rs55685226" "0" "" "" "g.16185126del" "" "VUS" "" "0000140106" "0" "50" "16" "16278981" "16278981" "subst" "0" "00240" "ABCC6_000261" "g.16278981C>A" "" "" "" "" "" "Germline" "" "rs8060117" "0" "" "" "g.16185124C>A" "" "VUS" "" "0000140107" "0" "50" "16" "16278948" "16278948" "subst" "0" "00240" "ABCC6_000262" "g.16278948C>T" "" "" "" "" "" "Germline" "" "rs41278182" "0" "" "" "g.16185091C>T" "" "VUS" "" "0000140108" "0" "50" "16" "16278896" "16278896" "subst" "2.43964E-5" "00240" "ABCC6_000263" "g.16278896A>C" "" "" "" "" "" "Germline" "" "rs72664207" "0" "" "" "g.16185039A>C" "" "VUS" "" "0000140109" "0" "50" "16" "16278869" "16278869" "subst" "0.41901" "00240" "ABCC6_000059" "g.16278869G>C" "" "" "" "" "" "Germline" "" "rs8058696" "0" "" "" "g.16185012G>C" "" "VUS" "" "0000140110" "0" "50" "16" "16278863" "16278863" "subst" "0.419265" "00240" "ABCC6_000060" "g.16278863G>T" "" "" "" "" "" "Germline" "" "rs8058694" "0" "" "" "g.16185006G>T" "" "VUS" "" "0000140111" "0" "50" "16" "16278695" "16278695" "subst" "0" "00240" "ABCC6_000264" "g.16278695A>T" "" "" "" "" "" "Germline" "" "rs2239323" "0" "" "" "g.16184838A>T" "" "VUS" "" "0000140112" "0" "50" "16" "16278050" "16278050" "subst" "0" "00240" "ABCC6_000265" "g.16278050C>T" "" "" "" "" "" "Germline" "" "rs212073" "0" "" "" "g.16184193C>T" "" "VUS" "" "0000140113" "0" "50" "16" "16277685" "16277685" "subst" "0" "00240" "ABCC6_000266" "g.16277685G>A" "" "" "" "" "" "Germline" "" "rs212072" "0" "" "" "g.16183828G>A" "" "VUS" "" "0000140114" "0" "50" "16" "16276964" "16276964" "subst" "0" "00240" "ABCC6_000267" "g.16276964C>T" "" "" "" "" "" "Germline" "" "rs150466" "0" "" "" "g.16183107C>T" "" "VUS" "" "0000140115" "0" "50" "16" "16276770" "16276791" "del" "0" "00240" "ABCC6_000062" "g.16276770_16276791del" "" "" "" "" "" "Germline" "" "rs74315158" "0" "" "" "g.16182913_16182934del" "" "VUS" "" "0000140116" "0" "50" "16" "16276767" "16276767" "subst" "0" "00240" "ABCC6_000061" "g.16276767T>C" "" "" "" "" "" "Germline" "" "rs72653779" "0" "" "" "g.16182910T>C" "" "VUS" "" "0000140117" "0" "50" "16" "16276742" "16276764" "del" "0" "00240" "ABCC6_000064" "g.16276742_16276764del" "" "" "" "" "" "Germline" "" "rs74315130" "0" "" "" "g.16182885_16182907del" "" "VUS" "" "0000140118" "0" "50" "16" "16276744" "16276744" "subst" "8.20338E-6" "00240" "ABCC6_000063" "g.16276744C>A" "" "" "" "" "" "Germline" "" "rs72653780" "0" "" "" "g.16182887C>A" "" "VUS" "" "0000140119" "0" "50" "16" "16276741" "16276741" "subst" "0.000442986" "00240" "ABCC6_000065" "g.16276741G>A" "" "" "" "" "" "Germline" "" "rs59002125" "0" "" "" "g.16182884G>A" "" "VUS" "" "0000140120" "0" "50" "16" "16276737" "16276737" "subst" "0" "00240" "ABCC6_000066" "g.16276737A>G" "" "" "" "" "" "Germline" "" "rs4341770" "0" "" "" "g.16182880A>G" "" "VUS" "" "0000140122" "0" "50" "16" "16276735" "16276735" "subst" "0" "00240" "ABCC6_000068" "g.16276735C>A" "" "" "" "" "" "Germline" "" "rs72653781" "0" "" "" "g.16182878C>A" "" "VUS" "" "0000140123" "0" "50" "16" "16276736" "16276736" "del" "0" "00240" "ABCC6_000069" "g.16276736del" "" "" "" "" "" "Germline" "" "rs72664228" "0" "" "" "g.16182879del" "" "VUS" "" "0000140124" "0" "50" "16" "16276713" "16276713" "subst" "2.46134E-5" "00240" "ABCC6_000070" "g.16276713A>G" "" "" "" "" "" "Germline" "" "rs67470842" "0" "" "" "g.16182856A>G" "" "VUS" "" "0000140125" "0" "50" "16" "16276701" "16276701" "subst" "0" "00240" "ABCC6_000071" "g.16276701A>G" "" "" "" "" "" "Germline" "" "rs72653782" "0" "" "" "g.16182844A>G" "" "VUS" "" "0000140126" "0" "50" "16" "16276656" "16276656" "subst" "0" "00240" "ABCC6_000341" "g.16276656C>T" "" "" "" "" "" "Germline" "" "rs72664208" "0" "" "" "g.16182799C>T" "" "VUS" "" "0000140127" "0" "50" "16" "16276423" "16276423" "subst" "0" "00240" "ABCC6_000072" "g.16276423T>G" "" "" "" "" "" "Germline" "" "rs72653783" "0" "" "" "g.16182566T>G" "" "VUS" "" "0000140128" "0" "50" "16" "16276419" "16276419" "subst" "2.03247E-5" "00240" "ABCC6_000073" "g.16276419C>A" "" "" "" "" "" "Germline" "" "rs72653784" "0" "" "" "g.16182562C>A" "" "VUS" "" "0000140129" "0" "50" "16" "16276354" "16276354" "subst" "0" "00240" "ABCC6_000074" "g.16276354C>T" "" "" "" "" "" "Germline" "" "rs72650701" "0" "" "" "g.16182497C>T" "" "VUS" "" "0000140130" "0" "50" "16" "16276345" "16276345" "subst" "0.0137667" "00240" "ABCC6_000075" "g.16276345C>T" "" "" "" "" "" "Germline" "" "rs58073789" "0" "" "" "g.16182488C>T" "" "VUS" "" "0000140131" "0" "50" "16" "16276341" "16276341" "subst" "0.0163287" "00240" "ABCC6_000076" "g.16276341T>A" "" "" "" "" "" "Germline" "" "rs59757815" "0" "" "" "g.16182484T>A" "" "VUS" "" "0000140132" "0" "50" "16" "16276339" "16276339" "subst" "0" "00240" "ABCC6_000077" "g.16276339A>G" "" "" "" "" "" "Germline" "" "rs72653785" "0" "" "" "g.16182482A>G" "" "VUS" "" "0000140133" "0" "50" "16" "16276292" "16276292" "subst" "0.0163564" "00240" "ABCC6_000078" "g.16276292T>C" "" "" "" "" "" "Germline" "" "rs59593133" "0" "" "" "g.16182435T>C" "" "VUS" "" "0000140134" "0" "50" "16" "16276271" "16276271" "subst" "0" "00240" "ABCC6_000079" "g.16276271G>A" "" "" "" "" "" "Germline" "" "rs66616070" "0" "" "" "g.16182414G>A" "" "VUS" "" "0000140135" "0" "50" "16" "16276247" "16276247" "subst" "0.000682466" "00240" "ABCC6_000268" "g.16276247A>C" "" "" "" "" "" "Germline" "" "rs72664298" "0" "" "" "g.16182390A>C" "" "VUS" "" "0000140136" "0" "50" "16" "16275967" "16275967" "subst" "0" "00240" "ABCC6_000269" "g.16275967G>A" "" "" "" "" "" "Germline" "" "rs7499347" "0" "" "" "g.16182110G>A" "" "VUS" "" "0000140137" "0" "50" "16" "16275412" "16275412" "subst" "0" "00240" "ABCC6_000270" "g.16275412G>A" "" "" "" "" "" "Germline" "" "rs11865158" "0" "" "" "g.16181555G>A" "" "VUS" "" "0000140138" "0" "50" "16" "16274206" "16274206" "subst" "0" "00240" "ABCC6_000271" "g.16274206C>G" "" "" "" "" "" "Germline" "" "rs212070" "0" "" "" "g.16180349C>G" "" "VUS" "" "0000140139" "0" "50" "16" "16273374" "16273374" "subst" "0" "00240" "ABCC6_000272" "g.16273374C>T" "" "" "" "" "" "Germline" "" "rs150465" "0" "" "" "g.16179517C>T" "" "VUS" "" "0000140140" "0" "50" "16" "16272835" "16272836" "del" "0" "00240" "ABCC6_000336" "g.16272835_16272836del" "" "" "" "" "" "Germline" "" "rs111113623" "0" "" "" "g.16178978_16178979del" "" "VUS" "" "0000140141" "0" "50" "16" "16272823" "16272824" "del" "0" "00240" "ABCC6_000347" "g.16272823_16272824del" "" "" "" "" "" "Germline" "" "rs111113624" "0" "" "" "g.16178966_16178967del" "" "VUS" "" "0000140142" "0" "50" "16" "16272818" "16272818" "subst" "0" "00240" "ABCC6_000080" "g.16272818A>T" "" "" "" "" "" "Germline" "" "rs72653786" "0" "" "" "g.16178961A>T" "" "VUS" "" "0000140143" "0" "50" "16" "16272807" "16272807" "subst" "3.28149E-5" "00240" "ABCC6_000081" "g.16272807C>T" "" "" "" "" "" "Germline" "" "rs72653787" "0" "" "" "g.16178950C>T" "" "VUS" "" "0000140144" "0" "50" "16" "16272792" "16272792" "subst" "3.27059E-5" "00240" "ABCC6_000082" "g.16272792G>A" "" "" "" "" "" "Germline" "" "rs72653788" "0" "" "" "g.16178935G>A" "" "VUS" "" "0000140145" "0" "50" "16" "16272776" "16272776" "subst" "3.66581E-5" "00240" "ABCC6_000083" "g.16272776C>T" "" "" "" "" "" "Germline" "" "rs67561842" "0" "" "" "g.16178919C>T" "" "VUS" "" "0000140146" "0" "50" "16" "16272773" "16272773" "subst" "0" "00240" "ABCC6_000084" "g.16272773G>T" "" "" "" "" "" "Germline" "" "rs72653789" "0" "" "" "g.16178916G>T" "" "VUS" "" "0000140147" "0" "50" "16" "16272766" "16272766" "subst" "0" "00240" "ABCC6_000085" "g.16272766G>T" "" "" "" "" "" "Germline" "" "rs66492417" "0" "" "" "g.16178909G>T" "" "VUS" "" "0000140148" "0" "50" "16" "16272748" "16272748" "del" "0" "00240" "ABCC6_000086" "g.16272748del" "" "" "" "" "" "Germline" "" "rs72664229" "0" "" "" "g.16178891del" "" "VUS" "" "0000140149" "0" "50" "16" "16272741" "16272741" "subst" "0" "00240" "ABCC6_000087" "g.16272741C>T" "" "" "" "" "" "Germline" "" "rs72653790" "0" "" "" "g.16178884C>T" "" "VUS" "" "0000140150" "0" "50" "16" "16272728" "16272728" "subst" "2.4398E-5" "00240" "ABCC6_000088" "g.16272728G>A" "" "" "" "" "" "Germline" "" "rs72653791" "0" "" "" "g.16178871G>A" "" "VUS" "" "0000140151" "0" "50" "16" "16272711" "16272711" "subst" "0" "00240" "ABCC6_000089" "g.16272711C>A" "" "" "" "" "" "Germline" "" "rs72653792" "0" "" "" "g.16178854C>A" "" "VUS" "" "0000140152" "0" "50" "16" "16272670" "16272670" "subst" "0.99251" "00240" "ABCC6_000090" "g.16272670T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs7500834" "0" "" "" "g.16178813T>C" "" "VUS" "" "0000140153" "0" "50" "16" "16272508" "16272508" "subst" "0" "00240" "ABCC6_000273" "g.16272508G>A" "" "" "" "" "" "Germline" "" "rs2283508" "0" "" "" "g.16178651G>A" "" "VUS" "" "0000140154" "0" "50" "16" "16271484" "16271485" "del" "0" "00240" "ABCC6_000348" "g.16271484_16271485del" "" "" "" "" "" "Germline" "" "rs111113625" "0" "" "" "g.16177627_16177628del" "" "VUS" "" "0000140155" "0" "50" "16" "16271480" "16271480" "subst" "1.62493E-5" "00240" "ABCC6_000091" "g.16271480G>A" "" "" "" "" "" "Germline" "" "rs72653793" "0" "" "" "g.16177623G>A" "" "VUS" "" "0000140156" "0" "50" "16" "16271479" "16271479" "subst" "2.84366E-5" "00240" "ABCC6_000092" "g.16271479C>T" "" "" "" "" "" "Germline" "" "rs72653794" "0" "" "" "g.16177622C>T" "" "VUS" "" "0000140157" "0" "50" "16" "16271471" "16271471" "subst" "8.93662E-5" "00240" "ABCC6_000093" "g.16271471C>T" "" "" "" "" "" "Germline" "" "rs72653795" "0" "" "" "g.16177614C>T" "" "VUS" "" "0000140158" "0" "50" "16" "16271467" "16271467" "subst" "2.84317E-5" "00240" "ABCC6_000094" "g.16271467G>A" "" "" "" "" "" "Germline" "" "rs72653796" "0" "" "" "g.16177610G>A" "" "VUS" "" "0000140159" "0" "50" "16" "16271441" "16271441" "subst" "1.2184E-5" "00240" "ABCC6_000095" "g.16271441C>G" "" "" "" "" "" "Germline" "" "rs72653797" "0" "" "" "g.16177584C>G" "" "VUS" "" "0000140160" "0" "50" "16" "16271422" "16271422" "subst" "3.65503E-5" "00240" "ABCC6_000096" "g.16271422A>G" "" "" "" "" "" "Germline" "" "rs72653798" "0" "" "" "g.16177565A>G" "" "VUS" "" "0000140161" "0" "50" "16" "16271409" "16271409" "subst" "0.139169" "00240" "ABCC6_000097" "g.16271409G>A" "" "" "" "" "" "Germline" "" "rs9924755" "0" "" "" "g.16177552G>A" "" "VUS" "" "0000140162" "0" "50" "16" "16271388" "16271388" "subst" "8.12229E-6" "00240" "ABCC6_000098" "g.16271388G>T" "" "" "" "" "" "Germline" "" "rs72650702" "0" "" "" "g.16177531G>T" "" "VUS" "" "0000140163" "0" "50" "16" "16271375" "16271375" "subst" "0" "00240" "ABCC6_000099" "g.16271375G>A" "" "" "" "" "" "Germline" "" "rs72653703" "0" "" "" "g.16177518G>A" "" "VUS" "" "0000140164" "0" "50" "16" "16271357" "16271357" "subst" "0.992256" "00240" "ABCC6_000100" "g.16271357T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs6416668" "0" "" "" "g.16177500T>C" "" "VUS" "" "0000140165" "0" "50" "16" "16271357" "16271357" "del" "0" "00240" "ABCC6_000101" "g.16271357delC" "" "" "" "" "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." "Germline" "" "rs67867306" "0" "" "" "g.16177500delC" "" "VUS" "" "0000140166" "0" "50" "16" "16271347" "16271347" "subst" "0" "00240" "ABCC6_000102" "g.16271347A>G" "" "" "" "" "" "Germline" "" "rs72653799" "0" "" "" "g.16177490A>G" "" "VUS" "" "0000140167" "0" "50" "16" "16270904" "16270904" "subst" "0" "00240" "ABCC6_000274" "g.16270904C>T" "" "" "" "" "" "Germline" "" "rs212623" "0" "" "" "g.16177047C>T" "" "VUS" "" "0000140168" "0" "50" "16" "16270850" "16270850" "subst" "0" "00240" "ABCC6_000275" "g.16270850C>T" "" "" "" "" "" "Germline" "" "rs6498615" "0" "" "" "g.16176993C>T" "" "VUS" "" "0000140169" "0" "50" "16" "16270174" "16270174" "subst" "0" "00240" "ABCC6_000276" "g.16270174T>C" "" "" "" "" "" "Germline" "" "rs6498614" "0" "" "" "g.16176317T>C" "" "VUS" "" "0000140170" "0" "50" "16" "16270046" "16270046" "subst" "0" "00240" "ABCC6_000277" "g.16270046A>G" "" "" "" "" "" "Germline" "" "rs212622" "0" "" "" "g.16176189A>G" "" "VUS" "" "0000140171" "0" "50" "16" "16269962" "16269962" "subst" "0" "00240" "ABCC6_000278" "g.16269962G>A" "" "" "" "" "" "Germline" "" "rs212621" "0" "" "" "g.16176105G>A" "" "VUS" "" "0000140172" "0" "50" "16" "16269803" "16269803" "subst" "0" "00240" "ABCC6_000103" "g.16269803G>T" "" "" "" "" "" "Germline" "" "rs72664285" "0" "" "" "g.16175946G>T" "" "VUS" "" "0000140173" "0" "50" "16" "16269791" "16269791" "subst" "8.12632E-6" "00240" "ABCC6_000104" "g.16269791C>A" "" "" "" "" "" "Germline" "" "rs72653800" "0" "" "" "g.16175934C>A" "" "VUS" "" "0000140175" "0" "50" "16" "16269629" "16269629" "subst" "0" "00240" "ABCC6_000343" "g.16269629C>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." "Germline" "" "rs72664300" "0" "" "" "g.16175772C>T" "" "VUS" "" "0000140176" "0" "50" "16" "16269570" "16269570" "subst" "0" "00240" "ABCC6_000279" "g.16269570A>G" "" "" "" "" "" "Germline" "" "rs7405025" "0" "" "" "g.16175713A>G" "" "VUS" "" "0000140177" "0" "50" "16" "16269269" "16269269" "subst" "0" "00240" "ABCC6_000280" "g.16269269G>A" "" "" "" "" "" "Germline" "" "rs212619" "0" "" "" "g.16175412G>A" "" "VUS" "" "0000140178" "0" "50" "16" "16268868" "16268868" "subst" "0" "00240" "ABCC6_000281" "g.16268868G>A" "" "" "" "" "" "Germline" "" "rs12931553" "0" "" "" "g.16175011G>A" "" "VUS" "" "0000140179" "0" "50" "16" "16267233" "16267233" "subst" "0" "00240" "ABCC6_000105" "g.16267233G>C" "" "" "" "" "" "Germline" "" "rs11861980" "0" "" "" "g.16173376G>C" "" "VUS" "" "0000140180" "0" "50" "16" "16267140" "16267140" "subst" "0.000125995" "00240" "ABCC6_000344" "g.16267140C>A" "" "" "" "" "" "Germline" "" "rs72664209" "0" "" "" "g.16173283C>A" "" "VUS" "" "0000140181" "0" "50" "16" "16267111" "16267111" "subst" "0" "00240" "ABCC6_000282" "g.16267111C>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." "Germline" "" "rs72664301" "0" "" "" "g.16173254C>T" "" "VUS" "" "0000140182" "0" "50" "16" "16267079" "16267079" "subst" "0" "00240" "ABCC6_000283" "g.16267079A>G" "" "" "" "" "" "Germline" "" "rs11866320" "0" "" "" "g.16173222A>G" "" "VUS" "" "0000140183" "0" "50" "16" "16265714" "16265714" "subst" "0" "00240" "ABCC6_000284" "g.16265714G>C" "" "" "" "" "" "Germline" "" "rs12921323" "0" "" "" "g.16171857G>C" "" "VUS" "" "0000140184" "0" "50" "16" "16265561" "16265561" "subst" "0" "00240" "ABCC6_000285" "g.16265561C>A" "" "" "" "" "" "Germline" "" "rs8045279" "0" "" "" "g.16171704C>A" "" "VUS" "" "0000140185" "0" "50" "16" "16264416" "16264416" "subst" "0" "00240" "ABCC6_000286" "g.16264416A>G" "" "" "" "" "" "Germline" "" "rs7500840" "0" "" "" "g.16170559A>G" "" "VUS" "" "0000140186" "0" "50" "16" "16264098" "16264098" "subst" "0" "00240" "ABCC6_000287" "g.16264098T>G" "" "" "" "" "" "Germline" "" "rs8043704" "0" "" "" "g.16170241T>G" "" "VUS" "" "0000140187" "0" "50" "16" "16263837" "16263837" "subst" "0" "00240" "ABCC6_000288" "g.16263837T>C" "" "" "" "" "" "Germline" "" "rs7201980" "0" "" "" "g.16169980T>C" "" "VUS" "" "0000140188" "0" "50" "16" "16263684" "16263684" "subst" "0" "00240" "ABCC6_000106" "g.16263684G>C" "" "" "" "" "" "Germline" "" "rs72653704" "0" "" "" "g.16169827G>C" "" "VUS" "" "0000140189" "0" "50" "16" "16263678" "16263679" "ins" "0" "00240" "ABCC6_000108" "g.16263678_16263679insG" "" "" "" "2820insC" "" "Germline" "" "rs72664219" "0" "" "" "g.16169821_16169822insG" "" "VUS" "" "0000140190" "0" "50" "16" "16263678" "16263678" "subst" "9.34475E-5" "00240" "ABCC6_000107" "g.16263678A>C" "" "" "" "" "" "Germline" "" "rs72664286" "0" "" "" "g.16169821A>C" "" "VUS" "" "0000140191" "0" "50" "16" "16263667" "16263667" "subst" "0" "00240" "ABCC6_000109" "g.16263667G>A" "" "" "" "" "" "Germline" "" "rs72653801" "0" "" "" "g.16169810G>A" "" "VUS" "" "0000140192" "0" "50" "16" "16263663" "16263663" "subst" "0.0856229" "00240" "ABCC6_000110" "g.16263663G>A" "" "" "" "" "" "Germline" "" "rs2856585" "0" "" "" "g.16169806G>A" "" "VUS" "" "0000140194" "0" "50" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "" "" "" "" "Germline" "" "rs61340537" "0" "" "" "g.16169805G>T" "" "VUS" "" "0000140195" "0" "50" "16" "16263650" "16263650" "subst" "0.000554806" "00240" "ABCC6_000112" "g.16263650C>T" "" "" "" "" "" "Germline" "" "rs72657689" "0" "" "" "g.16169793C>T" "" "VUS" "" "0000140196" "0" "50" "16" "16263643" "16263643" "subst" "0" "00240" "ABCC6_000114" "g.16263643A>C" "" "" "" "" "" "Germline" "" "rs72657690" "0" "" "" "g.16169786A>C" "" "VUS" "" "0000140197" "0" "50" "16" "16263640" "16263640" "subst" "1.01269E-5" "00240" "ABCC6_000115" "g.16263640A>T" "" "" "" "" "" "Germline" "" "rs72657700" "0" "" "" "g.16169783A>T" "" "VUS" "" "0000140198" "0" "50" "16" "16263607" "16263607" "subst" "8.83556E-6" "00240" "ABCC6_000116" "g.16263607C>G" "" "" "" "" "" "Germline" "" "rs72657691" "0" "" "" "g.16169750C>G" "" "VUS" "" "0000140199" "0" "50" "16" "16263594" "16263594" "subst" "0.00111384" "00240" "ABCC6_000117" "g.16263594C>T" "" "" "" "" "" "Germline" "" "rs72664287" "0" "" "" "g.16169737C>T" "" "VUS" "" "0000140200" "0" "50" "16" "16263524" "16263524" "subst" "0" "00240" "ABCC6_000118" "g.16263524C>G" "" "" "" "" "" "Germline" "" "rs72657692" "0" "" "" "g.16169667C>G" "" "VUS" "" "0000140201" "0" "50" "16" "16263361" "16263361" "subst" "0" "00240" "ABCC6_000289" "g.16263361G>A" "" "" "" "" "" "Germline" "" "rs7194043" "0" "" "" "g.16169504G>A" "" "VUS" "" "0000140202" "0" "50" "16" "16262572" "16262572" "subst" "0" "00240" "ABCC6_000290" "g.16262572G>A" "" "" "" "" "" "Germline" "" "rs4781732" "0" "" "" "g.16168715G>A" "" "VUS" "" "0000140203" "0" "50" "16" "16262174" "16262174" "subst" "0" "00240" "ABCC6_000291" "g.16262174C>T" "" "" "" "" "" "Germline" "" "rs11864636" "0" "" "" "g.16168317C>T" "" "VUS" "" "0000140204" "0" "50" "16" "16261251" "16261251" "subst" "0" "00240" "ABCC6_000292" "g.16261251C>T" "" "" "" "" "" "Germline" "" "rs11863504" "0" "" "" "g.16167394C>T" "" "VUS" "" "0000140205" "0" "50" "16" "16261170" "16261170" "subst" "0" "00240" "ABCC6_000293" "g.16261170G>C" "" "" "" "" "" "Germline" "" "rs11644687" "0" "" "" "g.16167313G>C" "" "VUS" "" "0000140206" "0" "50" "16" "16261143" "16261143" "subst" "0" "00240" "ABCC6_000294" "g.16261143C>T" "" "" "" "" "" "Germline" "" "rs9931948" "0" "" "" "g.16167286C>T" "" "VUS" "" "0000140207" "0" "50" "16" "16261003" "16261003" "subst" "0" "00240" "ABCC6_000295" "g.16261003C>T" "" "" "" "" "" "Germline" "" "rs11644902" "0" "" "" "g.16167146C>T" "" "VUS" "" "0000140208" "0" "50" "16" "16260818" "16260818" "subst" "0" "00240" "ABCC6_000296" "g.16260818C>A" "" "" "" "" "" "Germline" "" "rs11862538" "0" "" "" "g.16166961C>A" "" "VUS" "" "0000140209" "0" "50" "16" "16260443" "16260443" "subst" "0" "00240" "ABCC6_000297" "g.16260443A>G" "" "" "" "" "" "Germline" "" "rs8057824" "0" "" "" "g.16166586A>G" "" "VUS" "" "0000140210" "0" "50" "16" "16260427" "16260427" "subst" "0" "00240" "ABCC6_000298" "g.16260427C>T" "" "" "" "" "" "Germline" "" "rs9635506" "0" "" "" "g.16166570C>T" "" "VUS" "" "0000140211" "0" "50" "16" "16260342" "16260342" "subst" "0" "00240" "ABCC6_000299" "g.16260342C>T" "" "" "" "" "" "Germline" "" "rs6498606" "0" "" "" "g.16166485C>T" "" "VUS" "" "0000140212" "0" "50" "16" "16259698" "16259698" "subst" "2.03333E-5" "00240" "ABCC6_000119" "g.16259698G>A" "" "" "" "" "" "Germline" "" "rs72653705" "0" "" "" "g.16165841G>A" "" "VUS" "" "0000140214" "0" "50" "16" "16259641" "16259641" "subst" "4.87555E-5" "00240" "ABCC6_000121" "g.16259641A>C" "" "" "" "" "" "Germline" "" "rs72657693" "0" "" "" "g.16165784A>C" "" "VUS" "" "0000140215" "0" "50" "16" "16259618" "16259618" "subst" "0" "00240" "ABCC6_000122" "g.16259618G>T" "" "" "" "" "" "Germline" "" "rs72657694" "0" "" "" "g.16165761G>T" "" "VUS" "" "0000140216" "0" "50" "16" "16259598" "16259598" "subst" "8.12599E-6" "00240" "ABCC6_000123" "g.16259598A>C" "" "" "" "" "" "Germline" "" "rs72657695" "0" "" "" "g.16165741A>C" "" "VUS" "" "0000140217" "0" "50" "16" "16259596" "16259596" "subst" "0.0209464" "00240" "ABCC6_000124" "g.16259596G>A" "" "" "" "" "" "Germline" "" "rs41278174" "0" "" "" "g.16165739G>A" "" "VUS" "" "0000140218" "0" "50" "16" "16259579" "16259579" "subst" "4.06415E-6" "00240" "ABCC6_000125" "g.16259579G>T" "" "" "" "" "" "Germline" "" "rs60975032" "0" "" "" "g.16165722G>T" "" "VUS" "" "0000140219" "0" "50" "16" "16258949" "16258949" "subst" "0" "00240" "ABCC6_000300" "g.16258949G>A" "" "" "" "" "" "Germline" "" "rs11860746" "0" "" "" "g.16165092G>A" "" "VUS" "" "0000140220" "0" "50" "16" "16258830" "16258830" "subst" "0" "00240" "ABCC6_000301" "g.16258830T>C" "" "" "" "" "" "Germline" "" "rs2283509" "0" "" "" "g.16164973T>C" "" "VUS" "" "0000140221" "0" "50" "16" "16258625" "16258625" "subst" "0" "00240" "ABCC6_000302" "g.16258625C>A" "" "" "" "" "" "Germline" "" "rs11640896" "0" "" "" "g.16164768C>A" "" "VUS" "" "0000140222" "0" "50" "16" "16258173" "16258173" "subst" "0" "00240" "ABCC6_000303" "g.16258173G>A" "" "" "" "" "" "Germline" "" "rs9922834" "0" "" "" "g.16164316G>A" "" "VUS" "" "0000140223" "0" "50" "16" "16257410" "16257410" "subst" "0" "00240" "ABCC6_000304" "g.16257410C>A" "" "" "" "" "" "Germline" "" "rs16967441" "0" "" "" "g.16163553C>A" "" "VUS" "" "0000140224" "0" "50" "16" "16257016" "16257016" "subst" "8.54388E-5" "00240" "ABCC6_000126" "g.16257016G>A" "" "" "" "" "" "Germline" "" "rs63749794" "0" "" "" "g.16163159G>A" "" "VUS" "" "0000140225" "0" "50" "16" "16257015" "16257015" "subst" "1.22044E-5" "00240" "ABCC6_000128" "g.16257015C>T" "" "" "" "" "" "Germline" "" "rs63750427" "0" "" "" "g.16163158C>T" "" "VUS" "" "0000140227" "0" "50" "16" "16257011" "16257013" "del" "0" "00240" "ABCC6_000129" "g.16257011_16257013del" "" "" "" "" "" "Germline" "" "rs72664231" "0" "" "" "g.16163154_16163156del" "" "VUS" "" "0000140228" "0" "50" "16" "16256994" "16256994" "subst" "0" "00240" "ABCC6_000130" "g.16256994G>C" "" "" "" "" "" "Germline" "" "rs63750987" "0" "" "" "g.16163137G>C" "" "VUS" "" "0000140229" "0" "50" "16" "16256994" "16256994" "subst" "4.06421E-6" "00240" "ABCC6_000131" "g.16256994G>A" "" "" "" "" "" "Germline" "" "rs63750987" "0" "" "" "g.16163137G>A" "" "VUS" "" "0000140230" "0" "50" "16" "16256992" "16256992" "del" "0" "00240" "ABCC6_000132" "g.16256992del" "" "" "" "" "" "Germline" "" "rs72664232" "0" "" "" "g.16163135del" "" "VUS" "" "0000140231" "0" "50" "16" "16256976" "16256976" "subst" "0" "00240" "ABCC6_000133" "g.16256976A>G" "" "" "" "" "" "Germline" "" "rs63749998" "0" "" "" "g.16163119A>G" "" "VUS" "" "0000140232" "0" "50" "16" "16256975" "16256975" "subst" "8.12539E-6" "00240" "ABCC6_000134" "g.16256975C>T" "" "" "" "" "" "Germline" "" "rs63750758" "0" "" "" "g.16163118C>T" "" "VUS" "" "0000140233" "0" "50" "16" "16256967" "16256967" "subst" "6.09449E-5" "00240" "ABCC6_000135" "g.16256967G>A" "" "" "" "" "" "Germline" "" "rs63750459" "0" "" "" "g.16163110G>A" "" "VUS" "" "0000140234" "0" "50" "16" "16256959" "16256959" "subst" "8.12493E-6" "00240" "ABCC6_000136" "g.16256959C>A" "" "" "" "" "" "Germline" "" "rs63749807" "0" "" "" "g.16163102C>A" "" "VUS" "" "0000140235" "0" "50" "16" "16256958" "16256958" "subst" "0" "00240" "ABCC6_000137" "g.16256958C>G" "" "" "" "" "" "Germline" "" "rs63750473" "0" "" "" "g.16163101C>G" "" "VUS" "" "0000140236" "0" "50" "16" "16256944" "16256944" "subst" "4.46867E-5" "00240" "ABCC6_000138" "g.16256944G>A" "" "" "" "" "" "Germline" "" "rs28939701" "0" "" "" "g.16163087G>A" "" "VUS" "" "0000140237" "0" "50" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "" "" "" "" "Germline" "" "rs60791294" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000140238" "0" "50" "16" "16256943" "16256943" "subst" "0" "00240" "ABCC6_000140" "g.16256943C>G" "" "" "" "" "" "Germline" "" "rs60791294" "0" "" "" "g.16163086C>G" "" "VUS" "" "0000140239" "0" "50" "16" "16256941" "16256941" "subst" "4.46838E-5" "00240" "ABCC6_000141" "g.16256941C>T" "" "" "" "" "" "Germline" "" "rs63750146" "0" "" "" "g.16163084C>T" "" "VUS" "" "0000140241" "0" "50" "16" "16256929" "16256929" "subst" "0" "00240" "ABCC6_000143" "g.16256929G>A" "" "" "" "" "" "Germline" "" "rs72653743" "0" "" "" "g.16163072G>A" "" "VUS" "" "0000140242" "0" "50" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "" "" "" "" "Germline" "" "rs72653744" "0" "" "" "g.16163009G>A" "" "VUS" "" "0000140243" "0" "50" "16" "16256865" "16256865" "subst" "2.43801E-5" "00240" "ABCC6_000145" "g.16256865C>T" "" "" "" "" "" "Germline" "" "rs63750457" "0" "" "" "g.16163008C>T" "" "VUS" "" "0000140244" "0" "50" "16" "16256848" "16256851" "del" "0" "00240" "ABCC6_000305" "g.16256848_16256851del" "" "" "" "" "" "Germline" "" "rs72664211" "0" "" "" "g.16162991_16162994del" "" "VUS" "" "0000140245" "0" "50" "16" "16256835" "16256835" "subst" "2.03416E-5" "00240" "ABCC6_000306" "g.16256835C>T" "" "" "" "" "" "Germline" "" "rs72664302" "0" "" "" "g.16162978C>T" "" "VUS" "" "0000140246" "0" "50" "16" "16256767" "16256767" "subst" "0" "00240" "ABCC6_000307" "g.16256767G>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." "Germline" "" "rs3213473" "0" "" "" "g.16162910G>T" "" "VUS" "" "0000140247" "0" "50" "16" "16256678" "16256678" "subst" "0" "00240" "ABCC6_000308" "g.16256678G>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." "Germline" "" "rs3213472" "0" "" "" "g.16162821G>A" "" "VUS" "" "0000140248" "0" "50" "16" "16255437" "16255437" "subst" "0.0248212" "00240" "ABCC6_000309" "g.16255437A>G" "" "" "" "" "" "Germline" "" "rs3213471" "0" "" "" "g.16161580A>G" "" "VUS" "" "0000140250" "0" "50" "16" "16255422" "16255422" "subst" "1.22244E-5" "00240" "ABCC6_000345" "g.16255422C>T" "" "" "" "" "" "Germline" "" "rs72664210" "0" "" "" "g.16161565C>T" "" "VUS" "" "0000140251" "0" "50" "16" "16255320" "16255320" "subst" "0" "00240" "ABCC6_000146" "g.16255320C>T" "" "" "" "" "" "Germline" "" "rs63750607" "0" "" "" "g.16161463C>T" "" "VUS" "" "0000140252" "0" "50" "16" "16255240" "16255240" "subst" "0" "00240" "ABCC6_000311" "g.16255240A>G" "" "" "" "" "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." "Germline" "" "rs3213470" "0" "" "" "g.16161383A>G" "" "VUS" "" "0000140253" "0" "50" "16" "16255205" "16255205" "subst" "0" "00240" "ABCC6_000312" "g.16255205C>T" "" "" "" "" "" "Germline" "" "rs2376957" "0" "" "" "g.16161348C>T" "" "VUS" "" "0000140254" "0" "50" "16" "16254766" "16254766" "subst" "0" "00240" "ABCC6_000313" "g.16254766T>C" "" "" "" "" "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." "Germline" "" "rs169844" "0" "" "" "g.16160909T>C" "" "VUS" "" "0000140255" "0" "50" "16" "16253946" "16253946" "subst" "0" "00240" "ABCC6_000314" "g.16253946C>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." "Germline" "" "rs212655" "0" "" "" "g.16160089C>T" "" "VUS" "" "0000140256" "0" "50" "16" "16253834" "16253834" "subst" "0" "00240" "ABCC6_000315" "g.16253834G>A" "" "" "" "" "" "Germline" "" "rs12923397" "0" "" "" "g.16159977G>A" "" "VUS" "" "0000140257" "0" "50" "16" "16253570" "16253570" "subst" "0" "00240" "ABCC6_000316" "g.16253570C>T" "" "" "" "" "" "Germline" "" "rs2238470" "0" "" "" "g.16159713C>T" "" "VUS" "" "0000140258" "0" "50" "16" "16253443" "16253443" "subst" "1.62541E-5" "00240" "ABCC6_000317" "g.16253443G>T" "" "" "" "" "" "Germline" "" "rs72664212" "0" "" "" "g.16159586G>T" "" "VUS" "" "0000140259" "0" "50" "16" "16253413" "16253413" "subst" "1.62464E-5" "00240" "ABCC6_000147" "g.16253413G>A" "" "" "" "" "" "Germline" "" "rs63751215" "0" "" "" "g.16159556G>A" "" "VUS" "" "0000140260" "0" "50" "16" "16253412" "16253412" "subst" "2.0307E-5" "00240" "ABCC6_000148" "g.16253412C>T" "" "" "" "" "" "Germline" "" "rs63751001" "0" "" "" "g.16159555C>T" "" "VUS" "" "0000140261" "0" "50" "16" "16253406" "16253406" "subst" "0" "00240" "ABCC6_000149" "g.16253406C>T" "" "" "" "" "" "Germline" "" "rs72653745" "0" "" "" "g.16159549C>T" "" "VUS" "" "0000140262" "0" "50" "16" "16253398" "16253398" "subst" "0" "00240" "ABCC6_000150" "g.16253398G>T" "" "" "" "" "" "Germline" "" "rs63750125" "0" "" "" "g.16159541G>T" "" "VUS" "" "0000140263" "0" "50" "16" "16253371" "16253371" "subst" "2.43692E-5" "00240" "ABCC6_000151" "g.16253371G>A" "" "" "" "" "" "Germline" "" "rs63750402" "0" "" "" "g.16159514G>A" "" "VUS" "" "0000140264" "0" "50" "16" "16253365" "16253365" "subst" "0" "00240" "ABCC6_000152" "g.16253365G>A" "" "" "" "" "" "Germline" "" "rs72653746" "0" "" "" "g.16159508G>A" "" "VUS" "" "0000140265" "0" "50" "16" "16253362" "16253362" "subst" "0" "00240" "ABCC6_000153" "g.16253362C>G" "" "" "" "" "" "Germline" "" "rs63749796" "0" "" "" "g.16159505C>G" "" "VUS" "" "0000140266" "0" "50" "16" "16253359" "16253359" "subst" "0" "00240" "ABCC6_000154" "g.16253359A>G" "" "" "" "" "" "Germline" "" "rs63749992" "0" "" "" "g.16159502A>G" "" "VUS" "" "0000140267" "0" "50" "16" "16253357" "16253357" "subst" "0" "00240" "ABCC6_000155" "g.16253357A>C" "" "" "" "" "" "Germline" "" "rs72653747" "0" "" "" "g.16159500A>C" "" "VUS" "" "0000140268" "0" "50" "16" "16253352" "16253352" "subst" "8.12599E-6" "00240" "ABCC6_000156" "g.16253352C>T" "" "" "" "" "" "Germline" "" "rs72653748" "0" "" "" "g.16159495C>T" "" "VUS" "" "0000140269" "0" "50" "16" "16253351" "16253351" "subst" "1.62513E-5" "00240" "ABCC6_000157" "g.16253351C>G" "" "" "" "" "" "Germline" "" "rs72657701" "0" "" "" "g.16159494C>G" "" "VUS" "" "0000140270" "0" "50" "16" "16252696" "16252696" "subst" "0" "00240" "ABCC6_000318" "g.16252696T>C" "" "" "" "" "" "Germline" "" "rs16967488" "0" "" "" "g.16158839T>C" "" "VUS" "" "0000140271" "0" "50" "16" "16252382" "16252382" "subst" "0" "00240" "ABCC6_000319" "g.16252382C>A" "" "" "" "" "" "Germline" "" "rs2239327" "0" "" "" "g.16158525C>A" "" "VUS" "" "0000140272" "0" "50" "16" "16252168" "16252168" "subst" "0" "00240" "ABCC6_000320" "g.16252168G>A" "" "" "" "" "" "Germline" "" "rs2239329" "0" "" "" "g.16158311G>A" "" "VUS" "" "0000140273" "0" "50" "16" "16252000" "16252000" "subst" "0" "00240" "ABCC6_000321" "g.16252000T>G" "" "" "" "" "" "Germline" "" "rs150468" "0" "" "" "g.16158143T>G" "" "VUS" "" "0000140274" "0" "50" "16" "16251899" "16251899" "subst" "0" "00240" "ABCC6_000322" "g.16251899T>G" "" "" "" "" "" "Germline" "" "rs2238471" "0" "" "" "g.16158042T>G" "" "VUS" "" "0000140275" "0" "50" "16" "16251667" "16251667" "subst" "4.55977E-5" "00240" "ABCC6_000346" "g.16251667C>T" "" "" "" "" "" "Germline" "" "rs63750273" "0" "" "" "g.16157810C>T" "" "VUS" "" "0000140276" "0" "50" "16" "16253339" "16253339" "subst" "0" "00240" "ABCC6_000159" "g.16253339C>T" "" "" "" "" "" "Germline" "" "rs63750273" "0" "" "" "g.16159482C>T" "" "VUS" "" "0000140277" "0" "50" "16" "16253339" "16253339" "subst" "2.84474E-5" "00240" "ABCC6_000158" "g.16253339C>A" "" "" "" "" "" "Germline" "" "rs63750273" "0" "" "" "g.16159482C>A" "" "VUS" "" "0000140280" "0" "50" "16" "16251627" "16251627" "del" "8.97058E-5" "00240" "ABCC6_000162" "g.16251627del" "" "" "" "" "" "Germline" "" "rs72664233" "0" "" "" "g.16157770del" "" "VUS" "" "0000140281" "0" "50" "16" "16251604" "16251604" "del" "0" "00240" "ABCC6_000163" "g.16251604delA" "" "" "" "" "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." "Germline" "" "rs72664234" "0" "" "" "g.16157747delA" "" "VUS" "" "0000140282" "0" "50" "16" "16251599" "16251599" "subst" "0.250967" "00240" "ABCC6_000164" "g.16251599C>T" "" "" "" "" "" "Germline" "" "rs2238472" "0" "" "" "g.16157742C>T" "" "VUS" "" "0000140283" "0" "50" "16" "16251584" "16251584" "subst" "0" "00240" "ABCC6_000165" "g.16251584C>T" "" "" "" "" "" "Germline" "" "rs63750209" "0" "" "" "g.16157727C>T" "" "VUS" "" "0000140285" "0" "50" "16" "16251579" "16251579" "subst" "1.21927E-5" "00240" "ABCC6_000166" "g.16251579G>A" "" "" "" "" "" "Germline" "" "rs72653749" "0" "" "" "g.16157722G>A" "" "VUS" "" "0000140286" "0" "50" "16" "16251531" "16251531" "subst" "0.00672121" "00240" "ABCC6_000168" "g.16251531C>T" "" "" "" "" "" "Germline" "" "rs58694313" "0" "" "" "g.16157674C>T" "" "VUS" "" "0000140287" "0" "50" "16" "16251525" "16251525" "subst" "4.06616E-6" "00240" "ABCC6_000169" "g.16251525C>T" "" "" "" "" "" "Germline" "" "rs63750625" "0" "" "" "g.16157668C>T" "" "VUS" "" "0000140288" "0" "50" "16" "16251522" "16251524" "del" "0" "00240" "ABCC6_000170" "g.16251522_16251524del" "" "" "" "" "" "Germline" "" "rs72664235" "0" "" "" "g.16157665_16157667del" "" "VUS" "" "0000140289" "0" "50" "16" "16250989" "16250989" "subst" "0" "00240" "ABCC6_000323" "g.16250989G>A" "" "" "" "" "" "Germline" "" "rs11865853" "0" "" "" "g.16157132G>A" "" "VUS" "" "0000140290" "0" "50" "16" "16250598" "16250598" "subst" "0" "00240" "ABCC6_000324" "g.16250598C>G" "" "" "" "" "" "Germline" "" "rs169845" "0" "" "" "g.16156741C>G" "" "VUS" "" "0000140291" "0" "50" "16" "16248934" "16248934" "subst" "0.00316279" "00240" "ABCC6_000325" "g.16248934T>C" "" "" "" "" "" "Germline" "" "rs57745014" "0" "" "" "g.16155077T>C" "" "VUS" "" "0000140292" "0" "50" "16" "16248894" "16248894" "subst" "5.43922E-5" "00240" "ABCC6_000326" "g.16248894C>T" "" "" "" "" "" "Germline" "" "rs72664214" "0" "" "" "g.16155037C>T" "" "VUS" "" "0000140293" "0" "50" "16" "16248893" "16248893" "subst" "0" "00240" "ABCC6_000327" "g.16248893C>T" "" "" "" "" "" "Germline" "" "rs72664213" "0" "" "" "g.16155036C>T" "" "VUS" "" "0000140294" "0" "50" "16" "16248879" "16248879" "subst" "0" "00240" "ABCC6_000171" "g.16248879C>A" "" "" "" "" "" "Germline" "" "rs63751325" "0" "" "" "g.16155022C>A" "" "VUS" "" "0000140295" "0" "50" "16" "16248876" "16248876" "subst" "0" "00240" "ABCC6_000172" "g.16248876C>T" "" "" "" "" "" "Germline" "" "rs63750446" "0" "" "" "g.16155019C>T" "" "VUS" "" "0000140296" "0" "50" "16" "16248869" "16248869" "subst" "0" "00240" "ABCC6_000173" "g.16248869G>A" "" "" "" "" "" "Germline" "" "rs63750494" "0" "" "" "g.16155012G>A" "" "VUS" "" "0000140297" "0" "50" "16" "16248867" "16248867" "subst" "5.03512E-5" "00240" "ABCC6_000174" "g.16248867C>T" "" "" "" "" "" "Germline" "" "rs63749856" "0" "" "" "g.16155010C>T" "" "VUS" "" "0000140298" "0" "50" "16" "16248864" "16248864" "subst" "0" "00240" "ABCC6_000175" "g.16248864C>G" "" "" "" "" "" "Germline" "" "rs63750410" "0" "" "" "g.16155007C>G" "" "VUS" "" "0000140299" "0" "50" "16" "16248861" "16248861" "del" "0" "00240" "ABCC6_000176" "g.16248861del" "" "" "" "" "" "Germline" "" "rs72664236" "0" "" "" "g.16155004del" "" "VUS" "" "0000140300" "0" "50" "16" "16248852" "16248852" "subst" "0" "00240" "ABCC6_000177" "g.16248852A>G" "" "" "" "" "" "Germline" "" "rs63751318" "0" "" "" "g.16154995A>G" "" "VUS" "" "0000140301" "0" "50" "16" "16248839" "16248839" "subst" "0" "00240" "ABCC6_000178" "g.16248839C>T" "" "" "" "" "" "Germline" "" "rs63750992" "0" "" "" "g.16154982C>T" "" "VUS" "" "0000140302" "0" "50" "16" "16248831" "16248831" "subst" "0.000173115" "00240" "ABCC6_000179" "g.16248831G>A" "" "" "" "" "" "Germline" "" "rs63750759" "0" "" "" "g.16154974G>A" "" "VUS" "" "0000140303" "0" "50" "16" "16248830" "16248830" "subst" "3.90229E-5" "00240" "ABCC6_000180" "g.16248830C>T" "" "" "" "" "" "Germline" "" "rs63751086" "0" "" "" "g.16154973C>T" "" "VUS" "" "0000140304" "0" "50" "16" "16248810" "16248810" "subst" "0" "00240" "ABCC6_000181" "g.16248810C>T" "" "" "" "" "" "Germline" "" "rs63749823" "0" "" "" "g.16154953C>T" "" "VUS" "" "0000140305" "0" "50" "16" "16248800" "16248800" "subst" "0" "00240" "ABCC6_000182" "g.16248800C>T" "" "" "" "" "" "Germline" "" "rs72653750" "0" "" "" "g.16154943C>T" "" "VUS" "" "0000140306" "0" "50" "16" "16248793" "16248793" "subst" "0.000198389" "00240" "ABCC6_000183" "g.16248793G>A" "" "" "" "" "" "Germline" "" "rs57499803" "0" "" "" "g.16154936G>A" "" "VUS" "" "0000140307" "0" "50" "16" "16248772" "16248772" "subst" "0" "00240" "ABCC6_000184" "g.16248772C>T" "" "" "" "" "" "Germline" "" "rs63750235" "0" "" "" "g.16154915C>T" "" "VUS" "" "0000140308" "0" "50" "16" "16248767" "16248767" "subst" "0" "00240" "ABCC6_000186" "g.16248767A>T" "" "" "" "" "" "Germline" "" "rs63750414" "0" "" "" "g.16154910A>T" "" "VUS" "" "0000140309" "0" "50" "16" "16248767" "16248767" "subst" "0" "00240" "ABCC6_000185" "g.16248767A>G" "" "" "" "" "" "Germline" "" "rs63750414" "0" "" "" "g.16154910A>G" "" "VUS" "" "0000140310" "0" "50" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "rs28939702" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000140311" "0" "50" "16" "16248755" "16248755" "subst" "1.67301E-5" "00240" "ABCC6_000189" "g.16248755C>T" "" "" "" "" "" "Germline" "" "rs63750622" "0" "" "" "g.16154898C>T" "" "VUS" "" "0000140312" "0" "50" "16" "16248755" "16248755" "subst" "4.18253E-6" "00240" "ABCC6_000188" "g.16248755C>A" "" "" "" "" "" "Germline" "" "rs63750622" "0" "" "" "g.16154898C>A" "" "VUS" "" "0000140313" "0" "50" "16" "16248746" "16248746" "subst" "8.31421E-6" "00240" "ABCC6_000190" "g.16248746A>G" "" "" "" "" "" "Germline" "" "rs63750608" "0" "" "" "g.16154889A>G" "" "VUS" "" "0000140314" "0" "50" "16" "16248738" "16248738" "subst" "0" "00240" "ABCC6_000191" "g.16248738C>G" "" "" "" "" "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." "Germline" "" "rs63749800" "0" "" "" "g.16154881C>G" "" "VUS" "" "0000140315" "0" "50" "16" "16248735" "16248735" "subst" "0" "00240" "ABCC6_000192" "g.16248735G>A" "" "" "" "" "" "Germline" "" "rs63751112" "0" "" "" "g.16154878G>A" "" "VUS" "" "0000140316" "0" "50" "16" "16248730" "16248730" "subst" "0" "00240" "ABCC6_000193" "g.16248730C>G" "" "" "" "" "" "Germline" "" "rs63751111" "0" "" "" "g.16154873C>G" "" "VUS" "" "0000140317" "0" "50" "16" "16248681" "16248681" "subst" "0.210476" "00240" "ABCC6_000328" "g.16248681G>A" "" "" "" "" "" "Germline" "" "rs2066738" "0" "" "" "g.16154824G>A" "" "VUS" "" "0000140318" "0" "50" "16" "16248645" "16248645" "subst" "0" "00240" "ABCC6_000194" "g.16248645T>G" "" "" "" "" "" "Germline" "" "rs72664288" "0" "" "" "g.16154788T>G" "" "VUS" "" "0000140320" "0" "50" "16" "16248624" "16248624" "subst" "4.56057E-5" "00240" "ABCC6_000196" "g.16248624G>A" "" "" "" "" "" "Germline" "" "rs63750428" "0" "" "" "g.16154767G>A" "" "VUS" "" "0000140321" "0" "50" "16" "16248612" "16248612" "subst" "1.23997E-5" "00240" "ABCC6_000197" "g.16248612C>T" "" "" "" "" "" "Germline" "" "rs58695352" "0" "" "" "g.16154755C>T" "" "VUS" "" "0000140322" "0" "50" "16" "16248589" "16248589" "del" "2.05153E-5" "00240" "ABCC6_000198" "g.16248589del" "" "" "" "" "" "Germline" "" "rs72664237" "0" "" "" "g.16154732del" "" "VUS" "" "0000140323" "0" "50" "16" "16248511" "16248511" "del" "5.31889E-5" "00240" "ABCC6_000200" "g.16248511del" "" "" "" "" "" "Germline" "" "rs67791546" "0" "" "" "g.16154654del" "" "VUS" "" "0000140324" "0" "50" "16" "16248511" "16248511" "subst" "0" "00240" "ABCC6_000199" "g.16248511C>A" "" "" "" "" "" "Germline" "" "rs63750798" "0" "" "" "g.16154654C>A" "" "VUS" "" "0000140325" "0" "50" "16" "16248501" "16248501" "subst" "1.63968E-5" "00240" "ABCC6_000201" "g.16248501G>A" "" "" "" "" "" "Germline" "" "rs66913554" "0" "" "" "g.16154644G>A" "" "VUS" "" "0000140326" "0" "50" "16" "16248495" "16248495" "subst" "3.69722E-5" "00240" "ABCC6_000202" "g.16248495C>T" "" "" "" "" "" "Germline" "" "rs63751241" "0" "" "" "g.16154638C>T" "" "VUS" "" "0000140327" "0" "50" "16" "16248476" "16248476" "subst" "0.0152659" "00240" "ABCC6_000329" "g.16248476C>T" "" "" "" "" "" "Germline" "" "rs58760581" "0" "" "" "g.16154619C>T" "" "VUS" "" "0000140328" "0" "50" "16" "16247471" "16247471" "subst" "0" "00240" "ABCC6_000330" "g.16247471A>T" "" "" "" "" "" "Germline" "" "rs9932935" "0" "" "" "g.16153614A>T" "" "VUS" "" "0000140329" "0" "50" "16" "16245729" "16245729" "subst" "0" "00240" "ABCC6_000331" "g.16245729G>A" "" "" "" "" "" "Germline" "" "rs7192634" "0" "" "" "g.16151872G>A" "" "VUS" "" "0000140330" "0" "50" "16" "16244629" "16244629" "subst" "0" "00240" "ABCC6_000203" "g.16244629G>T" "" "" "" "" "" "Germline" "" "rs63750700" "0" "" "" "g.16150772G>T" "" "VUS" "" "0000140331" "0" "99" "16" "16244619" "16244620" "ins" "0" "00240" "ABCC6_000204" "g.16244619_16244620insTCTT" "" "" "" "" "" "Germline" "" "rs72664222" "0" "" "" "g.16150762_16150763insTCTT" "" "pathogenic" "" "0000140332" "0" "50" "16" "16244585" "16244585" "subst" "2.4497E-5" "00240" "ABCC6_000205" "g.16244585C>T" "" "" "" "" "" "Germline" "" "rs63751262" "0" "" "" "g.16150728C>T" "" "VUS" "" "0000140333" "0" "50" "16" "16244584" "16244584" "subst" "0.00708433" "00240" "ABCC6_000206" "g.16244584C>T" "" "" "" "" "" "Germline" "" "rs58668703" "0" "" "" "g.16150727C>T" "" "VUS" "" "0000140334" "0" "50" "16" "16244567" "16244567" "subst" "0" "00240" "ABCC6_000207" "g.16244567A>G" "" "" "" "" "" "Germline" "" "rs63750295" "0" "" "" "g.16150710A>G" "" "VUS" "" "0000140335" "0" "50" "16" "16244533" "16244533" "subst" "0" "00240" "ABCC6_000208" "g.16244533G>A" "" "" "" "" "" "Germline" "" "rs72664289" "0" "" "" "g.16150676G>A" "" "VUS" "" "0000140336" "0" "50" "16" "16244528" "16244534" "del" "0" "00240" "ABCC6_000209" "g.16244528_16244534del" "" "" "" "" "" "Germline" "" "rs74315109" "0" "" "" "g.16150671_16150677del" "" "VUS" "" "0000140337" "0" "50" "16" "16244520" "16244520" "del" "0" "00240" "ABCC6_000210" "g.16244520del" "" "" "" "" "" "Germline" "" "rs72664238" "0" "" "" "g.16150663del" "" "VUS" "" "0000140338" "0" "50" "16" "16244505" "16244505" "del" "0" "00240" "ABCC6_000211" "g.16244505del" "" "" "" "" "" "Germline" "" "rs72664239" "0" "" "" "g.16150648del" "" "VUS" "" "0000140339" "0" "50" "16" "16244461" "16244461" "subst" "0" "00240" "ABCC6_000212" "g.16244461G>A" "" "" "" "" "" "Germline" "" "rs63750763" "0" "" "" "g.16150604G>A" "" "VUS" "" "0000140340" "0" "50" "16" "16244424" "16244424" "subst" "7.08599E-5" "00240" "ABCC6_000332" "g.16244424G>C" "" "" "" "" "" "Germline" "" "rs72664215" "0" "" "" "g.16150567G>C" "" "VUS" "" "0000140341" "0" "50" "16" "16244179" "16244179" "subst" "0" "00240" "ABCC6_000333" "g.16244179G>A" "" "" "" "" "" "Germline" "" "rs41278170" "0" "" "" "g.16150322G>A" "" "VUS" "" "0000140342" "0" "50" "16" "16244174" "16244174" "subst" "0" "00240" "ABCC6_000334" "g.16244174T>C" "" "" "" "" "" "Germline" "" "rs212098" "0" "" "" "g.16150317T>C" "" "VUS" "" "0000140343" "0" "50" "16" "16244129" "16244129" "subst" "0" "00240" "ABCC6_000335" "g.16244129C>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." "Germline" "" "rs212097" "0" "" "" "g.16150272C>T" "" "VUS" "" "0000140345" "0" "50" "16" "16244068" "16244068" "del" "0" "00240" "ABCC6_000214" "g.16244068del" "" "" "" "" "" "Germline" "" "rs72664280" "0" "" "" "g.16150211del" "" "VUS" "" "0000140346" "0" "50" "16" "16244061" "16244061" "subst" "5.70874E-5" "00240" "ABCC6_000215" "g.16244061C>T" "" "" "" "" "" "Germline" "" "rs63751279" "0" "" "" "g.16150204C>T" "" "VUS" "" "0000140347" "0" "50" "16" "16244054" "16244054" "subst" "6.13612E-5" "00240" "ABCC6_000216" "g.16244054G>A" "" "" "" "" "" "Germline" "" "rs63750135" "0" "" "" "g.16150197G>A" "" "VUS" "" "0000140348" "0" "50" "16" "16244001" "16244001" "subst" "0" "00240" "ABCC6_000217" "g.16244001C>T" "" "" "" "" "" "Germline" "" "rs63750874" "0" "" "" "g.16150144C>T" "" "VUS" "" "0000140349" "0" "50" "16" "16243973" "16243973" "subst" "0.0665227" "00240" "ABCC6_000218" "g.16243973C>T" "" "" "" "" "" "Germline" "" "rs3902401" "0" "" "" "g.16150116C>T" "" "VUS" "" "0000140350" "0" "50" "16" "16243952" "16243952" "subst" "0.00826398" "00240" "ABCC6_000219" "g.16243952C>T" "" "" "" "" "" "Germline" "" "rs59461468" "0" "" "" "g.16150095C>T" "" "VUS" "" "0000146073" "3" "99" "16" "16302672" "16302673" "dup" "0" "00240" "ABCC6_000398" "g.16302672_16302673dup" "" "{PMID:Tan 2012:22261738}" "" "708_709dupCT" "" "Germline" "" "" "0" "" "" "g.16208815_16208816dup" "" "pathogenic" "" "0000146074" "0" "55" "16" "16248504" "16248504" "subst" "0" "00240" "ABCC6_000404" "g.16248504C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154647C>T" "" "VUS" "" "0000146075" "0" "55" "16" "16292017" "16292017" "subst" "2.20599E-5" "00240" "ABCC6_000067" "g.16292017G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16198160G>A" "" "VUS" "" "0000146076" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146077" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146078" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146079" "1" "97" "16" "16313805" "16313805" "subst" "0" "00240" "ABCC6_000342" "g.16313805C>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16219948C>G" "" "pathogenic" "" "0000146080" "1" "55" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "VUS" "" "0000146081" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146082" "0" "99" "16" "16315620" "16315620" "del" "4.13199E-6" "00240" "ABCC6_000001" "g.16315620del" "" "{PMID:Miksch 2005:16086317}" "" "" "corrected from p.(Ser37fs*80)" "Germline" "" "" "0" "" "" "g.16221763del" "" "pathogenic" "" "0000146083" "1" "55" "16" "16256941" "16256941" "subst" "4.46838E-5" "00240" "ABCC6_000141" "g.16256941C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163084C>T" "" "VUS" "" "0000146084" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146085" "1" "99" "16" "16263667" "16263667" "subst" "0" "00240" "ABCC6_000109" "g.16263667G>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16169810G>A" "" "pathogenic" "" "0000146086" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146087" "1" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146088" "1" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146089" "1" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146090" "1" "55" "16" "16297314" "16297314" "subst" "0" "00240" "ABCC6_000369" "g.16297314G>Y" "" "" "" "" "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." "Germline" "" "" "0" "" "" "g.16203457G>Y" "" "VUS" "" "0000146091" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146092" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146093" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146094" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146095" "1" "55" "16" "16256944" "16256944" "subst" "4.46867E-5" "00240" "ABCC6_000138" "g.16256944G>A" "" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "Germline" "" "" "0" "" "" "g.16163087G>A" "" "VUS" "" "0000146096" "1" "55" "16" "16315540" "16315548" "del" "0" "00240" "ABCC6_000406" "g.16315540_16315548del" "" "" "" "177-185del9" "" "Germline" "" "" "0" "" "" "g.16221683_16221691del" "" "VUS" "" "0000146097" "1" "55" "16" "16256943" "16256943" "subst" "0" "00240" "ABCC6_000140" "g.16256943C>G" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>G" "" "VUS" "" "0000146098" "1" "55" "16" "16248501" "16248501" "subst" "1.63968E-5" "00240" "ABCC6_000201" "g.16248501G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154644G>A" "" "VUS" "" "0000146099" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146100" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146101" "1" "55" "16" "16256958" "16256958" "subst" "0" "00240" "ABCC6_000137" "g.16256958C>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16163101C>G" "" "VUS" "" "0000146102" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146103" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146104" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146105" "1" "55" "16" "16295863" "16295863" "subst" "0.00557184" "00240" "ABCC6_000033" "g.16295863T>C" "" "{PMID:Chassaing 2004:15086542}" "" "" "" "Germline" "" "" "0" "" "" "g.16202006T>C" "" "VUS" "" "0000146106" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146107" "1" "55" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000146108" "1" "55" "16" "16272792" "16272792" "subst" "3.27059E-5" "00240" "ABCC6_000082" "g.16272792G>A" "" "{PMID:Hendig 2005:15723264}" "" "" "" "Germline" "" "" "0" "" "" "g.16178935G>A" "" "VUS" "" "0000146109" "0" "55" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "VUS" "" "0000146110" "0" "55" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "VUS" "" "0000146111" "1" "55" "16" "16295863" "16295863" "subst" "0.00557184" "00240" "ABCC6_000033" "g.16295863T>C" "" "{PMID:Chassaing 2004:15086542}" "" "" "" "Germline" "" "" "0" "" "" "g.16202006T>C" "" "VUS" "" "0000146112" "1" "55" "16" "16248867" "16248867" "subst" "5.03512E-5" "00240" "ABCC6_000174" "g.16248867C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16155010C>T" "" "VUS" "" "0000146113" "1" "55" "16" "16248867" "16248867" "subst" "5.03512E-5" "00240" "ABCC6_000174" "g.16248867C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16155010C>T" "" "VUS" "" "0000146114" "1" "99" "16" "16253412" "16253412" "subst" "2.0307E-5" "00240" "ABCC6_000148" "g.16253412C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16159555C>T" "" "pathogenic" "" "0000146115" "1" "55" "16" "16256967" "16256967" "subst" "6.09449E-5" "00240" "ABCC6_000135" "g.16256967G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163110G>A" "" "VUS" "" "0000146116" "1" "55" "16" "16297265" "16297265" "del" "0" "00240" "ABCC6_000339" "g.16297265del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16203408del" "" "VUS" "" "0000146117" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146118" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146119" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146120" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146121" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146122" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146123" "1" "55" "16" "16256967" "16256967" "subst" "6.09449E-5" "00240" "ABCC6_000135" "g.16256967G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163110G>A" "" "VUS" "" "0000146124" "0" "55" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "VUS" "" "0000146125" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146126" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146127" "1" "55" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "VUS" "" "0000146128" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146129" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146130" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146131" "1" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146132" "1" "99" "16" "16263524" "16263524" "subst" "0" "00240" "ABCC6_000118" "g.16263524C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16169667C>G" "" "pathogenic" "" "0000146133" "1" "55" "16" "16256944" "16256944" "subst" "4.46867E-5" "00240" "ABCC6_000138" "g.16256944G>A" "" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "Germline" "" "" "0" "" "" "g.16163087G>A" "" "VUS" "" "0000146134" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146135" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146136" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146137" "1" "99" "16" "16248730" "16248730" "subst" "0" "00240" "ABCC6_000193" "g.16248730C>G" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16154873C>G" "" "pathogenic" "" "0000146138" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146139" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146140" "1" "99" "16" "16248864" "16248864" "subst" "0" "00240" "ABCC6_000175" "g.16248864C>G" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16155007C>G" "" "pathogenic" "" "0000146141" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146142" "1" "55" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000146143" "1" "99" "16" "16272792" "16272792" "subst" "3.27059E-5" "00240" "ABCC6_000082" "g.16272792G>A" "" "{PMID:Hendig 2005:15723264}" "" "" "" "Germline" "" "" "0" "" "" "g.16178935G>A" "" "pathogenic" "" "0000146144" "1" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146145" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146146" "1" "55" "16" "16267140" "16267140" "subst" "0.000125995" "00240" "ABCC6_000344" "g.16267140C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16173283C>A" "" "VUS" "" "0000146147" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146148" "1" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146149" "1" "99" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "pathogenic" "" "0000146150" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146151" "1" "99" "16" "16248830" "16248830" "subst" "3.90229E-5" "00240" "ABCC6_000180" "g.16248830C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16154973C>T" "" "pathogenic" "" "0000146152" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146153" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146154" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146155" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146156" "1" "99" "16" "16263684" "16263684" "subst" "0" "00240" "ABCC6_000106" "g.16263684G>C" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16169827G>C" "" "pathogenic" "" "0000146157" "1" "99" "16" "16282764" "16282764" "subst" "0" "00240" "ABCC6_000353" "g.16282764G>A" "" "{PMID:Le Saux 2001:11536079}" "" "" "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." "Germline" "" "" "0" "" "" "g.16188907G>A" "" "pathogenic" "" "0000146158" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146159" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146160" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146161" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146162" "1" "55" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "VUS" "" "0000146163" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146164" "1" "99" "16" "16256944" "16256944" "subst" "4.46867E-5" "00240" "ABCC6_000138" "g.16256944G>A" "" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "Germline" "" "" "0" "" "" "g.16163087G>A" "" "pathogenic" "" "0000146165" "1" "99" "16" "16256865" "16256865" "subst" "2.43801E-5" "00240" "ABCC6_000145" "g.16256865C>T" "" "{PMID:Germain 2000:10913334}" "" "" "" "Germline" "" "" "0" "" "" "g.16163008C>T" "" "pathogenic" "" "0000146166" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146167" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146168" "1" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146169" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146170" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146171" "1" "99" "16" "16257016" "16257016" "subst" "8.54388E-5" "00240" "ABCC6_000126" "g.16257016G>A" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16163159G>A" "" "pathogenic" "" "0000146172" "1" "99" "16" "16295858" "16295858" "subst" "0" "00240" "ABCC6_000034" "g.16295858C>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16202001C>G" "" "pathogenic" "" "0000146173" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146174" "1" "55" "16" "16276736" "16276736" "del" "0" "00240" "ABCC6_000069" "g.16276736del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16182879del" "" "VUS" "" "0000146175" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146176" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146177" "1" "99" "16" "16281050" "16281050" "subst" "2.85714E-5" "00240" "ABCC6_000055" "g.16281050G>A" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16187193G>A" "" "pathogenic" "" "0000146178" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146179" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146180" "1" "99" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "pathogenic" "" "0000146181" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146182" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146183" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146184" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146185" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146186" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146187" "1" "99" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "pathogenic" "" "0000146188" "1" "99" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "pathogenic" "" "0000146189" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146190" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146191" "1" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146192" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146193" "1" "55" "16" "16276713" "16276713" "subst" "2.46134E-5" "00240" "ABCC6_000070" "g.16276713A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16182856A>G" "" "VUS" "" "0000146194" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146195" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146196" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146197" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146198" "1" "55" "16" "16295947" "16295947" "subst" "0" "00240" "ABCC6_000026" "g.16295947G>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16202090G>A" "" "VUS" "" "0000146199" "1" "55" "16" "16251627" "16251627" "del" "8.97058E-5" "00240" "ABCC6_000162" "g.16251627del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16157770del" "" "VUS" "" "0000146200" "1" "55" "16" "16256944" "16256944" "subst" "4.46867E-5" "00240" "ABCC6_000138" "g.16256944G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163087G>A" "" "VUS" "" "0000146201" "1" "99" "16" "16263678" "16263679" "ins" "0" "00240" "ABCC6_000108" "g.16263678_16263679insG" "" "{PMID:Pfendner 2007:17617515}" "" "2820insC" "" "Germline" "" "" "0" "" "" "g.16169821_16169822insG" "" "pathogenic" "" "0000146202" "1" "55" "16" "16251627" "16251627" "del" "8.97058E-5" "00240" "ABCC6_000162" "g.16251627del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16157770del" "" "VUS" "" "0000146203" "0" "55" "16" "16272766" "16272766" "subst" "0" "00240" "ABCC6_000085" "g.16272766G>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16178909G>T" "" "VUS" "" "0000146204" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146205" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146206" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146207" "1" "55" "16" "16276423" "16276423" "subst" "0" "00240" "ABCC6_000072" "g.16276423T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16182566T>G" "" "VUS" "" "0000146208" "1" "55" "16" "16248867" "16248867" "subst" "5.03512E-5" "00240" "ABCC6_000174" "g.16248867C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16155010C>T" "" "VUS" "" "0000146209" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146210" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146211" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146212" "1" "55" "16" "16295902" "16295902" "subst" "4.47304E-5" "00240" "ABCC6_000030" "g.16295902G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "VUS" "" "0000146213" "0" "55" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "VUS" "" "0000146214" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146215" "1" "55" "16" "16256929" "16256929" "subst" "0" "00240" "ABCC6_000143" "g.16256929G>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16163072G>A" "" "VUS" "" "0000146216" "0" "55" "16" "16284172" "16284172" "subst" "8.12328E-6" "00240" "ABCC6_000043" "g.16284172A>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16190315A>T" "" "VUS" "" "0000146217" "1" "55" "16" "16284103" "16284103" "subst" "8.53221E-5" "00240" "ABCC6_000048" "g.16284103C>T" "" "{PMID:Uitto 2001:11427982}" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "VUS" "" "0000146218" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146219" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146220" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146221" "1" "55" "16" "16267140" "16267140" "subst" "0.000125995" "00240" "ABCC6_000344" "g.16267140C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16173283C>A" "" "VUS" "" "0000146222" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146223" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146224" "1" "55" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "VUS" "" "0000146225" "1" "55" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000146226" "1" "55" "16" "16272818" "16272818" "subst" "0" "00240" "ABCC6_000080" "g.16272818A>T" "" "{PMID:Hendig 2005:15723264}" "" "" "" "Germline" "" "" "0" "" "" "g.16178961A>T" "" "VUS" "" "0000146227" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146228" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146229" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146230" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146231" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146232" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146233" "1" "97" "16" "16256941" "16256941" "subst" "4.46838E-5" "00240" "ABCC6_000141" "g.16256941C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16163084C>T" "" "pathogenic" "" "0000146234" "1" "55" "16" "16244505" "16244505" "del" "0" "00240" "ABCC6_000211" "g.16244505del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16150648del" "" "VUS" "" "0000146235" "1" "55" "16" "16284104" "16284104" "subst" "4.06336E-5" "00240" "ABCC6_000047" "g.16284104G>A" "" "{PMID:Meloni 2001:11439001}" "" "" "" "Germline" "" "" "0" "" "" "g.16190247G>A" "" "VUS" "" "0000146236" "1" "55" "16" "16251627" "16251627" "del" "8.97058E-5" "00240" "ABCC6_000162" "g.16251627del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16157770del" "" "VUS" "" "0000146237" "1" "55" "16" "16248867" "16248867" "subst" "5.03512E-5" "00240" "ABCC6_000174" "g.16248867C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16155010C>T" "" "VUS" "" "0000146238" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146239" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146240" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146241" "1" "55" "16" "16276339" "16276339" "subst" "0" "00240" "ABCC6_000077" "g.16276339A>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16182482A>G" "" "VUS" "" "0000146242" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146243" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146244" "1" "55" "16" "16276423" "16276423" "subst" "0" "00240" "ABCC6_000072" "g.16276423T>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16182566T>G" "" "VUS" "" "0000146245" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146246" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146247" "1" "55" "16" "16284103" "16284103" "subst" "8.53221E-5" "00240" "ABCC6_000048" "g.16284103C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "VUS" "" "0000146248" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146249" "1" "97" "16" "16248746" "16248746" "subst" "8.31421E-6" "00240" "ABCC6_000190" "g.16248746A>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16154889A>G" "" "pathogenic" "" "0000146250" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146251" "1" "55" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "VUS" "" "0000146252" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146253" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146254" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146255" "1" "55" "16" "16272711" "16272711" "subst" "0" "00240" "ABCC6_000089" "g.16272711C>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16178854C>A" "" "VUS" "" "0000146256" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146257" "1" "55" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "VUS" "" "0000146258" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146259" "1" "55" "16" "16272807" "16272807" "subst" "3.28149E-5" "00240" "ABCC6_000081" "g.16272807C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16178950C>T" "" "VUS" "" "0000146260" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146261" "1" "55" "16" "16253398" "16253398" "subst" "0" "00240" "ABCC6_000150" "g.16253398G>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16159541G>T" "" "VUS" "" "0000146262" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146263" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146264" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146265" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146266" "1" "55" "16" "16248831" "16248831" "subst" "0.000173115" "00240" "ABCC6_000179" "g.16248831G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "VUS" "" "0000146267" "1" "55" "16" "16248831" "16248831" "subst" "0.000173115" "00240" "ABCC6_000179" "g.16248831G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "VUS" "" "0000146268" "10" "99" "16" "16248767" "16248767" "subst" "0" "00240" "ABCC6_000185" "g.16248767A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154910A>G" "" "pathogenic" "" "0000146269" "1" "99" "16" "16248867" "16248867" "subst" "5.03512E-5" "00240" "ABCC6_000174" "g.16248867C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16155010C>T" "" "pathogenic" "" "0000146270" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146271" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146272" "1" "99" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "pathogenic" "" "0000146273" "1" "99" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "pathogenic" "" "0000146274" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146275" "1" "99" "16" "16272766" "16272766" "subst" "0" "00240" "ABCC6_000085" "g.16272766G>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16178909G>T" "" "pathogenic" "" "0000146276" "1" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146277" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146278" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146279" "0" "55" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000146280" "1" "99" "16" "16280992" "16280992" "dup" "0" "00240" "ABCC6_000058" "g.16280992dup" "" "{PMID:Pfendner 2007:17617515}" "" "1857insC" "" "Germline" "" "" "0" "" "" "g.16187135dup" "" "pathogenic" "" "0000146281" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146282" "1" "99" "16" "16272776" "16272776" "subst" "3.66581E-5" "00240" "ABCC6_000083" "g.16272776C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16178919C>T" "" "pathogenic" "" "0000146283" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146284" "1" "55" "16" "16267140" "16267140" "subst" "0.000125995" "00240" "ABCC6_000344" "g.16267140C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16173283C>A" "" "VUS" "" "0000146285" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146286" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146287" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146288" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146289" "1" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146290" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146291" "1" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146292" "1" "55" "16" "16256967" "16256967" "subst" "6.09449E-5" "00240" "ABCC6_000135" "g.16256967G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163110G>A" "" "VUS" "" "0000146293" "0" "55" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000146294" "0" "55" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "VUS" "" "0000146295" "0" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146296" "0" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146297" "0" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146298" "0" "55" "16" "16290495" "16290495" "subst" "0" "00240" "ABCC6_000235" "g.16290495A>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16196638A>G" "" "VUS" "" "0000146299" "0" "11" "16" "16313545" "16313545" "subst" "0.0248278" "00240" "ABCC6_000223" "g.16313545C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16219688C>T" "" "benign" "" "0000146300" "0" "99" "16" "16259698" "16259698" "subst" "2.03333E-5" "00240" "ABCC6_000119" "g.16259698G>A" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16165841G>A" "" "pathogenic" "" "0000146301" "0" "99" "16" "16251667" "16251667" "subst" "4.55977E-5" "00240" "ABCC6_000346" "g.16251667C>T" "" "{PMID:Ringpfeil 2000:10811882}" "" "IVS26-1G>A" "" "Germline" "" "" "0" "" "" "g.16157810C>T" "" "pathogenic" "" "0000146302" "0" "99" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "pathogenic" "" "0000146303" "0" "99" "16" "16276770" "16276791" "del" "0" "00240" "ABCC6_000062" "g.16276770_16276791del" "" "{PMID:Bergen 2000:10835643}" "" "1967_1989del22" "not on 101 controls" "Germline" "" "" "0" "" "" "g.16182913_16182934del" "" "pathogenic" "" "0000146304" "3" "99" "16" "16251627" "16251627" "del" "8.97058E-5" "00240" "ABCC6_000162" "g.16251627del" "" "{PMID:Bergen 2000:10835643}" "" "3798delT" "" "Germline" "yes" "" "0" "" "" "g.16157770del" "" "pathogenic" "" "0000146305" "0" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "R1141X" "not on 100 controls" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146306" "1" "99" "16" "16243989" "16317292" "" "0" "00240" "ABCC6_000399" "g.(?_16243989)_(16317292_?)del" "" "{PMID:Bergen 2000:10835643}" "" "" "del ABCC6; not in 114 controls" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000146307" "0" "99" "16" "16256865" "16256865" "subst" "2.43801E-5" "00240" "ABCC6_000145" "g.16256865C>T" "" "{PMID:Germain 2000:10913334}" "" "" "" "Germline" "" "" "0" "" "" "g.16163008C>T" "" "pathogenic" "" "0000146308" "0" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146309" "0" "99" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "pathogenic" "" "0000146310" "0" "99" "16" "16286755" "16286755" "subst" "0" "00240" "ABCC6_000040" "g.16286755C>G" "" "{PMID:Uitto 2001:11427982}" "" "" "" "Germline" "" "" "0" "" "" "g.16192898C>G" "" "pathogenic" "" "0000146311" "0" "99" "16" "16284103" "16284103" "subst" "8.53221E-5" "00240" "ABCC6_000048" "g.16284103C>T" "" "{PMID:Uitto 2001:11427982}" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146312" "0" "99" "16" "16271357" "16271357" "del" "0" "00240" "ABCC6_000101" "g.16271357delC" "" "{PMID:Uitto 2001:11427982}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000146313" "0" "11" "16" "16291983" "16291983" "subst" "0" "00240" "ABCC6_000036" "g.16291983A>C" "" "{PMID:Meloni 2001:11439001}" "" "Asn411Asn" "" "Germline" "" "" "0" "" "" "g.16198126A>C" "" "benign" "" "0000146314" "0" "11" "16" "16278869" "16278869" "subst" "0.41901" "00240" "ABCC6_000059" "g.16278869G>C" "" "{PMID:Meloni 2001:11439001}" "" "Thr630Thr" "" "Germline" "" "" "0" "" "" "g.16185012G>C" "" "benign" "" "0000146315" "0" "11" "16" "16256767" "16256767" "subst" "0" "00240" "ABCC6_000307" "g.16256767G>T" "" "{PMID:Meloni 2001:11439001}" "" "" "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." "Germline" "" "" "0" "" "" "g.16162910G>T" "" "benign" "" "0000146316" "0" "99" "16" "16284104" "16284104" "subst" "4.06336E-5" "00240" "ABCC6_000047" "g.16284104G>A" "" "{PMID:Meloni 2001:11439001}" "" "" "" "Germline" "" "" "0" "" "" "g.16190247G>A" "" "pathogenic" "" "0000146317" "0" "99" "16" "16297305" "16297305" "del" "0" "00240" "ABCC6_000023" "g.16297305del" "" "{PMID:Meloni 2001:11439001}" "" "" "" "Germline" "" "" "0" "" "" "g.16203448del" "" "pathogenic" "" "0000146318" "0" "99" "16" "16302698" "16302698" "subst" "0" "00240" "ABCC6_000351" "g.16302698G>C" "" "{PMID:Meloni 2001:11439001}" "" "" "" "Germline" "" "" "0" "" "" "g.16208841G>C" "" "pathogenic" "" "0000146319" "0" "55" "16" "16281010" "16281010" "subst" "0" "00240" "ABCC6_000056" "g.16281010A>C" "" "{PMID:Meloni 2001:11439001}" "" "" "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." "Germline" "" "" "0" "" "" "g.16187153A>C" "" "VUS" "" "0000146320" "0" "55" "16" "16281010" "16281010" "subst" "0" "00240" "ABCC6_000056" "g.16281010A>C" "" "{PMID:Meloni 2001:11439001}" "" "" "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." "Germline" "" "" "0" "" "" "g.16187153A>C" "" "VUS" "" "0000146321" "0" "99" "16" "16243989" "16317292" "del" "0" "00240" "ABCC6_000350" "g.16243989_16317292del" "" "{PMID:Meloni 2001:11439001}" "" "" "del ABCC6 ABCC1 MY11\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000146322" "0" "55" "16" "16248485" "16259790" "del" "0" "00240" "ABCC6_000355" "g.16248485_16259790del" "" "{PMID:Le Saux 2001:11536079}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.16154628_16165933del" "" "VUS" "" "0000146323" "0" "99" "16" "16248864" "16248864" "subst" "0" "00240" "ABCC6_000175" "g.16248864C>G" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16155007C>G" "" "pathogenic" "" "0000146324" "0" "99" "16" "16257015" "16257015" "subst" "0" "00240" "ABCC6_000127" "g.16257015C>G" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16163158C>G" "" "pathogenic" "" "0000146325" "0" "11" "16" "16251599" "16251599" "subst" "0.250967" "00240" "ABCC6_000164" "g.16251599C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16157742C>T" "" "benign" "" "0000146326" "0" "99" "16" "16248830" "16248830" "subst" "3.90229E-5" "00240" "ABCC6_000180" "g.16248830C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16154973C>T" "" "pathogenic" "" "0000146327" "0" "11" "16" "16302586" "16302586" "subst" "0.042575" "00240" "ABCC6_000015" "g.16302586T>C" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16208729T>C" "" "benign" "" "0000146328" "0" "99" "16" "16291983" "16291983" "subst" "0" "00240" "ABCC6_000036" "g.16291983A>C" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16198126A>C" "" "pathogenic" "" "0000146329" "0" "99" "16" "16248612" "16248612" "subst" "1.23997E-5" "00240" "ABCC6_000197" "g.16248612C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16154755C>T" "" "pathogenic" "" "0000146330" "0" "99" "16" "16315530" "16315546" "del" "0" "00240" "ABCC6_000352" "g.16315530_16315546del" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16221673_16221689del" "" "pathogenic" "" "0000146331" "0" "99" "16" "16276736" "16276736" "del" "0" "00240" "ABCC6_000069" "g.16276736del" "" "{PMID:Le Saux 2001:11536079}" "" "1995delG" "" "Germline" "" "rs72664227" "0" "" "" "g.16182879del" "" "pathogenic" "" "0000146332" "0" "99" "16" "16272748" "16272748" "del" "0" "00240" "ABCC6_000086" "g.16272748del" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16178891del" "" "pathogenic" "" "0000146333" "0" "99" "16" "16297327" "16297327" "dup" "0" "00240" "ABCC6_000360" "g.16297327dup" "" "{PMID:Le Saux 2001:11536079}" "" "938_939insT" "" "Germline" "" "" "0" "" "" "g.16203470dup" "" "pathogenic" "" "0000146334" "0" "99" "16" "16253365" "16253365" "subst" "0" "00240" "ABCC6_000152" "g.16253365G>A" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16159508G>A" "" "pathogenic" "" "0000146335" "0" "99" "16" "16255320" "16255320" "subst" "0" "00240" "ABCC6_000146" "g.16255320C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16161463C>T" "" "pathogenic" "" "0000146336" "0" "99" "16" "16248867" "16248867" "subst" "5.03512E-5" "00240" "ABCC6_000174" "g.16248867C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16155010C>T" "" "pathogenic" "" "0000146337" "0" "99" "16" "16248810" "16248810" "subst" "0" "00240" "ABCC6_000181" "g.16248810C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16154953C>T" "" "pathogenic" "" "0000146338" "0" "13" "16" "16306085" "16306085" "subst" "0" "00240" "ABCC6_000008" "g.16306085C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16212228C>T" "" "benign" "" "0000146339" "0" "11" "16" "16315543" "16315543" "subst" "0" "00240" "ABCC6_000003" "g.16315543C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "rs72657696" "0" "" "" "g.16221686C>T" "" "benign" "" "0000146340" "0" "11" "16" "16278863" "16278863" "subst" "0.419265" "00240" "ABCC6_000060" "g.16278863G>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16185006G>T" "" "benign" "" "0000146341" "0" "99" "16" "16244567" "16244567" "subst" "0" "00240" "ABCC6_000207" "g.16244567A>G" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16150710A>G" "" "pathogenic" "" "0000146342" "0" "11" "16" "16297310" "16297310" "subst" "0.00122248" "00240" "ABCC6_000022" "g.16297310T>C" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16203453T>C" "" "benign" "" "0000146343" "0" "99" "16" "16276713" "16276713" "subst" "2.46134E-5" "00240" "ABCC6_000070" "g.16276713A>G" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16182856A>G" "" "pathogenic" "" "0000146344" "0" "13" "16" "16263640" "16263640" "subst" "1.01269E-5" "00240" "ABCC6_000115" "g.16263640A>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16169783A>T" "" "benign" "" "0000146345" "0" "11" "16" "16297424" "16297424" "subst" "0" "00240" "ABCC6_000016" "g.16297424T>C" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16203567T>C" "" "benign" "" "0000146346" "0" "55" "16" "16282764" "16282764" "subst" "0" "00240" "ABCC6_000353" "g.16282764G>A" "" "{PMID:Le Saux 2001:11536079}" "" "" "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." "Germline" "" "" "0" "" "" "g.16188907G>A" "" "VUS" "" "0000146347" "0" "99" "16" "16282764" "16282764" "subst" "0.000121904" "00240" "ABCC6_000053" "g.16282764A>G" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16188907A>G" "" "pathogenic" "" "0000146348" "0" "99" "16" "16256994" "16256994" "subst" "0" "00240" "ABCC6_000130" "g.16256994G>C" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16163137G>C" "" "pathogenic" "" "0000146349" "0" "99" "16" "16248869" "16248869" "subst" "0" "00240" "ABCC6_000173" "g.16248869G>A" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16155012G>A" "" "pathogenic" "" "0000146350" "0" "33" "16" "16253351" "16253351" "subst" "1.62513E-5" "00240" "ABCC6_000157" "g.16253351C>G" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16159494C>G" "" "likely benign" "" "0000146351" "0" "99" "16" "16272766" "16272766" "subst" "0" "00240" "ABCC6_000085" "g.16272766G>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16178909G>T" "" "pathogenic" "" "0000146352" "0" "99" "16" "16248879" "16248879" "subst" "0" "00240" "ABCC6_000171" "g.16248879C>A" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16155022C>A" "" "pathogenic" "" "0000146353" "0" "11" "16" "16296027" "16296027" "subst" "0" "00240" "ABCC6_000356" "g.16296027T>C" "" "{PMID:Cai 2001:11692167}" "" "1077A>G (Ser359Ser)" "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." "Germline" "" "" "0" "" "" "g.16202170T>C" "" "benign" "" "0000146354" "0" "11" "16" "16295893" "16295893" "subst" "4.47333E-5" "00240" "ABCC6_000031" "g.16295893A>G" "" "{PMID:Cai 2001:11692167}" "" "Leu381Leu" "" "Germline" "" "" "0" "" "" "g.16202036A>G" "" "benign" "" "0000146355" "0" "11" "16" "16306059" "16306059" "subst" "0.040166" "00240" "ABCC6_000009" "g.16306059C>T" "" "{PMID:Pulkkinen 2001:11702217}" "" "Thr215Thr" "" "Germline" "" "rs72664282" "0" "" "" "g.16212202C>T" "" "benign" "" "0000146356" "0" "11" "16" "16305928" "16305928" "subst" "0" "00240" "ABCC6_000227" "g.16305928A>G" "0.063" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "Germline" "" "rs2239320" "0" "" "" "g.16212071A>G" "" "benign" "" "0000146357" "0" "11" "16" "16306030" "16306030" "subst" "0.0164394" "00240" "ABCC6_000226" "g.16306030G>A" "" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "Germline" "" "rs72664291" "0" "" "" "g.16212173G>A" "" "benign" "" "0000146358" "0" "11" "16" "16305744" "16305744" "subst" "0" "00240" "ABCC6_000228" "g.16305744G>C" "" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "Germline" "" "rs72664292" "0" "" "" "g.16211887G>C" "" "benign" "" "0000146359" "0" "11" "16" "16305737" "16305737" "subst" "0" "00240" "ABCC6_000229" "g.16305737A>C" "" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "Germline" "" "rs72664293" "0" "" "" "g.16211880A>C" "" "benign" "" "0000146360" "0" "11" "16" "16305639" "16305639" "subst" "0" "00240" "ABCC6_000230" "g.16305639A>T" "" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "Germline" "" "rs72664294" "0" "" "" "g.16211782A>T" "" "benign" "" "0000146361" "1" "99" "16" "16315540" "16315548" "del" "0" "00240" "ABCC6_000220" "g.16315540_16315548del" "" "{PMID:Pulkkinen 2001:11702217}" "" "179del9" "" "Germline" "yes" "rs74315110" "0" "" "" "g.16221683_16221691del" "" "pathogenic" "" "0000146362" "0" "99" "16" "16295902" "16295902" "subst" "4.47304E-5" "00240" "ABCC6_000030" "g.16295902G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000146364" "1" "99" "16" "16295943" "16295943" "subst" "2.033E-5" "00240" "ABCC6_000027" "g.16295943G>C" "" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "Germline" "" "rs72653759" "0" "" "" "g.16202086G>C" "" "pathogenic" "" "0000146365" "0" "13" "16" "16286614" "16286614" "subst" "0" "00240" "ABCC6_000243" "g.16286614C>G" "" "{PMID:Le Saux 2002:12384774}" "" "" "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." "Germline" "" "" "0" "" "" "g.16192757C>G" "" "benign" "" "0000146366" "0" "13" "16" "16284246" "16284246" "subst" "0" "00240" "ABCC6_000248" "g.16284246G>T" "" "{PMID:Le Saux 2002:12384774}" "" "" "" "Germline" "" "" "0" "" "" "g.16190389G>T" "" "benign" "" "0000146367" "0" "13" "16" "16284269" "16284269" "subst" "8.20284E-6" "00240" "ABCC6_000246" "g.16284269G>T" "" "{PMID:Le Saux 2002:12384774}" "" "" "" "Germline" "" "" "0" "" "" "g.16190412G>T" "" "benign" "" "0000146368" "0" "13" "16" "16267111" "16267111" "subst" "0" "00240" "ABCC6_000282" "g.16267111C>T" "" "{PMID:Le Saux 2002:12384774}" "" "" "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." "Germline" "" "" "0" "" "" "g.16173254C>T" "" "benign" "" "0000146369" "0" "11" "16" "16255437" "16255437" "subst" "0.0248212" "00240" "ABCC6_000309" "g.16255437A>G" "" "{PMID:Le Saux 2002:12384774}" "" "" "" "Germline" "" "" "0" "" "" "g.16161580A>G" "" "benign" "" "0000146370" "0" "55" "16" "16255424" "16255424" "subst" "0.0165402" "00240" "ABCC6_000310" "g.16255424G>A" "" "{PMID:Le Saux 2002:12384774}" "" "" "" "Germline" "" "" "0" "" "" "g.16161567G>A" "" "VUS" "" "0000146371" "0" "11" "16" "16255240" "16255240" "subst" "0" "00240" "ABCC6_000311" "g.16255240A>G" "" "{PMID:Le Saux 2002:12384774}" "" "" "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." "Germline" "" "" "0" "" "" "g.16161383A>G" "" "benign" "" "0000146372" "0" "11" "16" "16297410" "16297410" "subst" "0" "00240" "ABCC6_000017" "g.16297410G>A" "" "{PMID:Le Saux 2002:12384774}" "" "Thr285Thr" "" "Germline" "" "" "0" "" "" "g.16203553G>A" "" "benign" "" "0000146373" "0" "55" "16" "16297377" "16297401" "del" "0" "00240" "ABCC6_000018" "g.16297377_16297401del" "" "{PMID:Le Saux 2002:12384774}" "" "" "" "Germline" "" "" "0" "" "" "g.16203520_16203544del" "" "VUS" "" "0000146374" "0" "13" "16" "16248645" "16248645" "subst" "0" "00240" "ABCC6_000194" "g.16248645T>G" "" "{PMID:Le Saux 2002:12384774}" "" "" "" "Germline" "" "" "0" "" "" "g.16154788T>G" "" "benign" "" "0000146375" "0" "99" "16" "16272833" "16272834" "del" "0" "00240" "ABCC6_000359" "g.16272833_16272834del" "" "{PMID:Hu 2003:12673275}" "" "IVS17-12delTT" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.16178976_16178977del" "" "pathogenic" "" "0000146376" "0" "11" "16" "16291971" "16291971" "subst" "0.286076" "00240" "ABCC6_000038" "g.16291971C>T" "" "{PMID:Hu 2003:12673275}" "" "Val415Val" "" "Germline" "" "" "0" "" "" "g.16198114C>T" "" "benign" "" "0000146377" "0" "11" "16" "16263594" "16263594" "subst" "0.00111384" "00240" "ABCC6_000117" "g.16263594C>T" "" "{PMID:Hu 2003:12673275}" "" "Leu968Leu" "" "Germline" "" "" "0" "" "" "g.16169737C>T" "" "benign" "" "0000146378" "0" "99" "16" "16257015" "16257015" "subst" "1.22044E-5" "00240" "ABCC6_000128" "g.16257015C>T" "" "{PMID:Hu 2003:12673275}" "" "" "" "Germline" "" "" "0" "" "" "g.16163158C>T" "" "pathogenic" "" "0000146379" "0" "90" "16" "16244463" "16244463" "subst" "0" "00240" "ABCC6_000409" "g.16244463G>A" "" "{PMID:Hu 2003:12673275}" "" "4377C>T (R1459C)" "variant corrected assuming amino acid change is correct" "Germline" "" "" "0" "" "" "g.16150606G>A" "" "pathogenic" "" "0000146380" "0" "99" "16" "16276770" "16276791" "del" "0" "00240" "ABCC6_000062" "g.16276770_16276791del" "" "{PMID:Hu 2003:12673275}" "" "" "" "Germline" "" "" "0" "" "" "g.16182913_16182934del" "" "pathogenic" "" "0000146381" "0" "99" "16" "16251627" "16251627" "del" "8.97058E-5" "00240" "ABCC6_000162" "g.16251627del" "" "{PMID:Hu 2003:12673275}" "" "" "" "Germline" "" "" "0" "" "" "g.16157770del" "" "pathogenic" "" "0000146382" "0" "99" "16" "16248511" "16248511" "del" "5.31889E-5" "00240" "ABCC6_000200" "g.16248511del" "" "{PMID:Hu 2003:12673275}" "" "" "" "Germline" "" "" "0" "" "" "g.16154654del" "" "pathogenic" "" "0000146383" "0" "99" "16" "16244619" "16244620" "ins" "0" "00240" "ABCC6_000204" "g.16244619_16244620insTCTT" "" "{PMID:Hu 2003:12673275}" "" "4220insAGAA" "" "Germline" "" "" "0" "" "" "g.16150762_16150763insTCTT" "" "pathogenic" "" "0000146384" "0" "99" "16" "16248511" "16248511" "subst" "0" "00240" "ABCC6_000199" "g.16248511C>A" "" "{PMID:Hu 2003:12673275}" "" "" "" "Germline" "" "" "0" "" "" "g.16154654C>A" "" "pathogenic" "" "0000146385" "0" "11" "16" "16269803" "16269803" "subst" "0" "00240" "ABCC6_000103" "g.16269803G>T" "" "{PMID:Morcher 2003:12928920}" "" "Thr877Thr" "" "Germline" "" "" "0" "" "" "g.16175946G>T" "" "benign" "" "0000146386" "0" "99" "16" "16256967" "16256967" "subst" "6.09449E-5" "00240" "ABCC6_000135" "g.16256967G>A" "" "{PMID:Götting 2004:14631379}" "" "" "" "Germline" "" "" "0" "" "" "g.16163110G>A" "" "pathogenic" "" "0000146387" "0" "99" "16" "16253443" "16253443" "subst" "1.62541E-5" "00240" "ABCC6_000317" "g.16253443G>T" "" "{PMID:Chassaing 2004:15086542}" "" "IVS25-3C>A" "" "Germline" "" "" "0" "" "" "g.16159586G>T" "" "pathogenic" "" "0000146388" "0" "11" "16" "16244174" "16244174" "subst" "0" "00240" "ABCC6_000334" "g.16244174T>C" "" "{PMID:Chassaing 2004:15086542}" "" "" "" "Germline" "" "" "0" "" "" "g.16150317T>C" "" "benign" "" "0000146389" "0" "99" "16" "16272773" "16272773" "subst" "0" "00240" "ABCC6_000084" "g.16272773G>T" "" "{PMID:Chassaing 2004:15086542}" "" "" "" "Germline" "" "" "0" "" "" "g.16178916G>T" "" "pathogenic" "" "0000146390" "0" "99" "16" "16295863" "16295863" "subst" "0.00557184" "00240" "ABCC6_000033" "g.16295863T>C" "" "{PMID:Chassaing 2004:15086542}" "" "" "" "Germline" "" "" "0" "" "" "g.16202006T>C" "" "pathogenic" "" "0000146391" "0" "99" "16" "16253362" "16253362" "subst" "0" "00240" "ABCC6_000153" "g.16253362C>G" "" "{PMID:Chassaing 2004:15086542}" "" "" "" "Germline" "" "" "0" "" "" "g.16159505C>G" "" "pathogenic" "" "0000146392" "0" "99" "16" "16295916" "16295948" "del" "0" "00240" "ABCC6_000029" "g.16295916_16295948del" "" "{PMID:Chassaing 2004:15086542}" "" "1088_1120del33" "" "Germline" "" "rs74315156" "0" "" "" "g.16202059_16202091del" "" "pathogenic" "" "0000146393" "0" "99" "16" "16248495" "16248495" "subst" "3.69722E-5" "00240" "ABCC6_000202" "g.16248495C>T" "" "{PMID:Chassaing 2004:15086542}" "" "" "" "Germline" "" "" "0" "" "" "g.16154638C>T" "" "pathogenic" "" "0000146394" "0" "99" "16" "16248767" "16248767" "subst" "0" "00240" "ABCC6_000185" "g.16248767A>G" "" "{PMID:Chassaing 2004:15086542}" "" "" "" "Germline" "" "" "0" "" "" "g.16154910A>G" "" "pathogenic" "" "0000146395" "0" "99" "16" "16253406" "16253406" "subst" "0" "00240" "ABCC6_000149" "g.16253406C>T" "" "{PMID:Chassaing 2004:15086542}" "" "" "" "Germline" "" "" "0" "" "" "g.16159549C>T" "" "pathogenic" "" "0000146396" "0" "99" "16" "16313803" "16313805" "del" "0" "00240" "ABCC6_000004" "g.16313803_16313805del" "" "{PMID:Chassaing 2004:15086542}" "" "" "" "Germline" "" "" "0" "" "" "g.16219946_16219948del" "" "pathogenic" "" "0000146397" "0" "99" "16" "16308186" "16308186" "subst" "1.36909E-5" "00240" "ABCC6_000361" "g.16308186G>A" "" "{PMID:Yoshida 2005:15184964}" "" "" "" "Germline" "" "" "0" "" "" "g.16214329G>A" "" "pathogenic" "" "0000146398" "0" "11" "16" "16278983" "16278983" "del" "0" "00240" "ABCC6_000260" "g.16278983del" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16185126del" "" "benign" "" "0000146399" "0" "99" "16" "16272823" "16272824" "del" "0" "00240" "ABCC6_000363" "g.16272823_16272824del" "" "{PMID:Gheduzzi 2004:15459974}" "" "IVS17del-2,-1" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.16178966_16178967del" "" "pathogenic" "" "0000146400" "0" "11" "16" "16278981" "16278981" "subst" "0" "00240" "ABCC6_000261" "g.16278981C>A" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16185124C>A" "" "benign" "" "0000146401" "0" "11" "16" "16244129" "16244129" "subst" "0" "00240" "ABCC6_000335" "g.16244129C>T" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "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." "Germline" "" "" "0" "" "" "g.16150272C>T" "" "benign" "" "0000146402" "0" "99" "16" "16271441" "16271441" "subst" "1.2184E-5" "00240" "ABCC6_000095" "g.16271441C>G" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16177584C>G" "" "pathogenic" "" "0000146403" "0" "99" "16" "16257016" "16257016" "subst" "8.54388E-5" "00240" "ABCC6_000126" "g.16257016G>A" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16163159G>A" "" "pathogenic" "" "0000146404" "0" "99" "16" "16251579" "16251579" "subst" "1.21927E-5" "00240" "ABCC6_000166" "g.16251579G>A" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16157722G>A" "" "pathogenic" "" "0000146405" "0" "99" "16" "16281050" "16281050" "subst" "2.85714E-5" "00240" "ABCC6_000055" "g.16281050G>A" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16187193G>A" "" "pathogenic" "" "0000146406" "0" "99" "16" "16291898" "16291898" "subst" "0" "00240" "ABCC6_000039" "g.16291898A>C" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16198041A>C" "" "pathogenic" "" "0000146407" "0" "99" "16" "16255385" "16255385" "dup" "0" "00240" "ABCC6_000362" "g.16255385dup" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16161528dup" "" "pathogenic" "" "0000146408" "0" "99" "16" "16244520" "16244520" "del" "0" "00240" "ABCC6_000210" "g.16244520del" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16150663del" "" "pathogenic" "" "0000146409" "0" "97" "16" "16256976" "16256976" "subst" "0" "00240" "ABCC6_000133" "g.16256976A>G" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16163119A>G" "" "pathogenic" "" "0000146410" "0" "99" "16" "16248735" "16248735" "subst" "0" "00240" "ABCC6_000192" "g.16248735G>A" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16154878G>A" "" "pathogenic" "" "0000146411" "0" "99" "16" "16271471" "16271471" "subst" "8.93662E-5" "00240" "ABCC6_000093" "g.16271471C>T" "" "{PMID:Gheduzzi 2004:15459974}" "" "" "" "Germline" "" "" "0" "" "" "g.16177614C>T" "" "pathogenic" "" "0000146412" "0" "99" "16" "16253413" "16253413" "subst" "1.62464E-5" "00240" "ABCC6_000147" "g.16253413G>A" "" "{PMID:Noji 2004:15645653}" "" "" "" "Germline" "" "" "0" "" "" "g.16159556G>A" "" "pathogenic" "" "0000146413" "0" "99" "16" "16263648" "16263663" "del" "0" "00240" "ABCC6_000113" "g.16263648_16263663del" "" "{PMID:Hendig 2005:15723264}" "" "2835_2850del16" "" "Germline" "" "rs74315152" "0" "" "" "g.16169791_16169806del" "" "pathogenic" "" "0000146414" "0" "13" "16" "16269640" "16269640" "dup" "0" "00240" "ABCC6_000365" "g.16269640dup" "" "{PMID:Hendig 2005:15723264}" "" "2666+133_134insC" "" "Germline" "" "rs72664299" "0" "" "" "g.16175783dup" "" "benign" "" "0000146415" "0" "55" "16" "16269629" "16269629" "subst" "0" "00240" "ABCC6_000343" "g.16269629C>T" "" "{PMID:Hendig 2005:15723264}" "" "" "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." "Germline" "" "" "0" "" "" "g.16175772C>T" "" "VUS" "" "0000146416" "0" "15" "16" "16244424" "16244424" "subst" "7.08599E-5" "00240" "ABCC6_000332" "g.16244424G>C" "" "{PMID:Hendig 2005:15723264}" "" "" "" "Germline" "" "" "0" "" "" "g.16150567G>C" "" "benign" "" "0000146417" "0" "13" "16" "16244179" "16244179" "subst" "0" "00240" "ABCC6_000333" "g.16244179G>A" "" "{PMID:Hendig 2005:15723264}" "" "" "" "Germline" "" "" "0" "" "" "g.16150322G>A" "" "benign" "" "0000146418" "0" "99" "16" "16272792" "16272792" "subst" "3.27059E-5" "00240" "ABCC6_000082" "g.16272792G>A" "" "{PMID:Hendig 2005:15723264}" "" "" "" "Germline" "" "" "0" "" "" "g.16178935G>A" "" "pathogenic" "" "0000146419" "0" "99" "16" "16244068" "16244068" "del" "0" "00240" "ABCC6_000214" "g.16244068del" "" "{PMID:Hendig 2005:15723264}" "" "" "" "Germline" "" "" "0" "" "" "g.16150211del" "" "pathogenic" "" "0000146420" "0" "97" "16" "16271347" "16271347" "subst" "0" "00240" "ABCC6_000102" "g.16271347A>G" "" "{PMID:Hendig 2005:15723264}" "" "" "" "Germline" "" "" "0" "" "" "g.16177490A>G" "" "pathogenic" "" "0000146421" "0" "99" "16" "16272818" "16272818" "subst" "0" "00240" "ABCC6_000080" "g.16272818A>T" "" "{PMID:Hendig 2005:15723264}" "" "" "" "Germline" "" "" "0" "" "" "g.16178961A>T" "" "pathogenic" "" "0000146422" "0" "11" "16" "16263643" "16263643" "subst" "0" "00240" "ABCC6_000114" "g.16263643A>C" "" "{PMID:Hendig 2005:15723264}" "" "" "" "Germline" "" "" "0" "" "" "g.16169786A>C" "" "benign" "" "0000146423" "0" "95" "16" "16244629" "16244629" "subst" "0" "00240" "ABCC6_000203" "g.16244629G>T" "" "{PMID:Hendig 2005:15723264}" "" "" "" "Germline" "" "" "0" "" "" "g.16150772G>T" "" "pathogenic" "" "0000146424" "0" "99" "16" "16251534" "16251581" "del" "0" "00240" "ABCC6_000167" "g.16251534_16251581del" "" "{PMID:Hu 2004:15727254}" "" "3821del48" "" "Germline" "" "rs74315128" "0" "" "" "g.16157677_16157724del" "" "pathogenic" "" "0000146425" "0" "99" "16" "16281097" "16281097" "subst" "0" "00240" "ABCC6_000253" "g.16281097A>T" "" "{PMID:Chassaing 2005:15894595}" "" "IVS13-29T>A" "" "Germline" "" "" "0" "" "" "g.16187240A>T" "" "pathogenic" "" "0000146426" "0" "55" "16" "16281097" "16281097" "subst" "0" "00240" "ABCC6_000253" "g.16281097A>T" "" "{PMID:Chassaing 2005:15894595}" "" "IVS13-29T>A" "" "Germline" "" "" "0" "" "" "g.16187240A>T" "" "VUS" "" "0000146427" "0" "99" "16" "16278896" "16278896" "subst" "2.43964E-5" "00240" "ABCC6_000263" "g.16278896A>C" "" "{PMID:Chassaing 2005:15894595}" "" "IVS14-5T>G" "" "Germline" "" "" "0" "" "" "g.16185039A>C" "" "pathogenic" "" "0000146428" "0" "55" "16" "16278896" "16278896" "subst" "2.43964E-5" "00240" "ABCC6_000263" "g.16278896A>C" "" "{PMID:Chassaing 2005:15894595}" "" "IVS14-5T>G" "" "Germline" "" "" "0" "" "" "g.16185039A>C" "" "VUS" "" "0000146429" "0" "99" "16" "16297265" "16297266" "del" "0" "00240" "ABCC6_000367" "g.16297265_16297266del" "" "{PMID:Chassaing 2005:15894595}" "" "IVS8+2delTG" "" "Germline" "" "" "0" "" "" "g.16203408_16203409del" "" "pathogenic" "" "0000146430" "0" "99" "16" "16272728" "16272728" "subst" "2.4398E-5" "00240" "ABCC6_000088" "g.16272728G>A" "" "{PMID:Chassaing 2005:15894595}" "" "" "" "Germline" "" "" "0" "" "" "g.16178871G>A" "" "pathogenic" "" "0000146431" "0" "99" "16" "16248876" "16248876" "subst" "0" "00240" "ABCC6_000172" "g.16248876C>T" "" "{PMID:Chassaing 2005:15894595}" "" "" "" "Germline" "" "" "0" "" "" "g.16155019C>T" "" "pathogenic" "" "0000146432" "0" "99" "16" "16302703" "16302703" "subst" "0" "00240" "ABCC6_000011" "g.16302703C>T" "" "{PMID:Chassaing 2005:15894595}" "" "" "" "Germline" "" "" "0" "" "" "g.16208846C>T" "" "pathogenic" "" "0000146433" "0" "55" "16" "16302703" "16302703" "subst" "0" "00240" "ABCC6_000011" "g.16302703C>T" "" "{PMID:Chassaing 2005:15894595}" "" "" "" "Germline" "" "" "0" "" "" "g.16208846C>T" "" "VUS" "" "0000146434" "0" "99" "16" "16284151" "16284151" "subst" "0" "00240" "ABCC6_000045" "g.16284151T>A" "" "{PMID:Chassaing 2005:15894595}" "" "" "" "Germline" "" "" "0" "" "" "g.16190294T>A" "" "pathogenic" "" "0000146435" "0" "99" "16" "16257011" "16257013" "del" "0" "00240" "ABCC6_000129" "g.16257011_16257013del" "" "{PMID:Chassaing 2005:15894595}" "" "3143_3145del" "" "Germline" "" "" "0" "" "" "g.16163154_16163156del" "" "pathogenic" "" "0000146436" "0" "99" "16" "16248852" "16248852" "subst" "0" "00240" "ABCC6_000177" "g.16248852A>G" "" "{PMID:Chassaing 2005:15894595}" "" "" "" "Germline" "" "" "0" "" "" "g.16154995A>G" "" "pathogenic" "" "0000146437" "0" "11" "16" "16243952" "16243952" "subst" "0.00826398" "00240" "ABCC6_000219" "g.16243952C>T" "" "{PMID:Miksch 2005:16086317}" "" "4512+38G>A" "" "Germline" "" "" "0" "" "" "g.16150095C>T" "" "benign" "" "0000146438" "0" "99" "16" "16267140" "16317292" "del" "0" "00240" "ABCC6_000373" "g.(16263711_16267140)_(16317292_?)del" "" "{PMID:Miksch 2005:16086317}" "" "1-2787+?del" "M1_R929 del" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000146439" "0" "11" "16" "16295852" "16295852" "subst" "0" "00240" "ABCC6_000231" "g.16295852G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16201995G>A" "" "benign" "" "0000146440" "0" "99" "16" "16257052" "16257087" "delins" "0" "00240" "ABCC6_000375" "g.16257052_16257087delinsTCT" "" "{PMID:Miksch 2005:16086317}" "" "3307-3_-38del-3.-5insAGA" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000146441" "0" "55" "16" "16255437" "16255437" "subst" "0.0248212" "00240" "ABCC6_000309" "g.16255437A>G" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16161580A>G" "" "VUS" "" "0000146442" "0" "55" "16" "16255422" "16255422" "subst" "1.22244E-5" "00240" "ABCC6_000345" "g.16255422C>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16161565C>T" "" "VUS" "" "0000146443" "0" "55" "16" "16255424" "16255424" "subst" "0.0165402" "00240" "ABCC6_000310" "g.16255424G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16161567G>A" "" "VUS" "" "0000146444" "0" "99" "16" "16251633" "16251633" "dup" "0" "00240" "ABCC6_000161" "g.16251633dup" "" "{PMID:Miksch 2005:16086317}" "" "3769_3770insC" "identical to rs72664221" "Germline" "" "rs72664220" "0" "" "" "g.16157776dup" "" "pathogenic" "" "0000146445" "0" "79" "16" "16248894" "16248894" "subst" "5.43922E-5" "00240" "ABCC6_000326" "g.16248894C>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16155037C>T" "" "likely pathogenic" "" "0000146446" "0" "11" "16" "16291858" "16291858" "subst" "0.778896" "00240" "ABCC6_000233" "g.16291858G>C" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16198001G>C" "" "benign" "" "0000146447" "0" "11" "16" "16291816" "16291816" "subst" "0" "00240" "ABCC6_000234" "g.16291816C>G" "" "{PMID:Miksch 2005:16086317}" "" "" "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." "Germline" "" "" "0" "" "" "g.16197959C>G" "" "benign" "" "0000146448" "0" "11" "16" "16291871" "16291871" "subst" "0.800003" "00240" "ABCC6_000232" "g.16291871G>C" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16198014G>C" "" "benign" "" "0000146449" "0" "55" "16" "16283974" "16283974" "subst" "0" "00240" "ABCC6_000374" "g.16283974G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "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." "Germline" "" "" "0" "" "" "g.16190117G>A" "" "VUS" "" "0000146450" "0" "11" "16" "16278948" "16278948" "subst" "0" "00240" "ABCC6_000262" "g.16278948C>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16185091C>T" "" "benign" "" "0000146451" "0" "11" "16" "16276341" "16276341" "subst" "0.0163287" "00240" "ABCC6_000076" "g.16276341T>A" "" "{PMID:Miksch 2005:16086317}" "" "Val725Val" "" "Germline" "" "" "0" "" "" "g.16182484T>A" "" "benign" "" "0000146452" "0" "11" "16" "16263678" "16263678" "subst" "9.34475E-5" "00240" "ABCC6_000107" "g.16263678A>C" "" "{PMID:Miksch 2005:16086317}" "" "Arg940Arg" "" "Germline" "" "" "0" "" "" "g.16169821A>C" "" "benign" "" "0000146453" "0" "11" "16" "16313653" "16313653" "subst" "0.0235092" "00240" "ABCC6_000222" "g.16313653G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16219796G>A" "" "benign" "" "0000146454" "0" "97" "16" "16255422" "16255422" "subst" "1.22244E-5" "00240" "ABCC6_000345" "g.16255422C>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16161565C>T" "" "pathogenic" "" "0000146455" "0" "97" "16" "16253339" "16253339" "subst" "0" "00240" "ABCC6_000159" "g.16253339C>T" "" "{PMID:Miksch 2005:16086317}" "" "Glu1245Glu" "" "Germline" "" "" "0" "" "" "g.16159482C>T" "" "pathogenic" "" "0000146456" "0" "11" "16" "16248912" "16248912" "subst" "0.00616609" "00240" "ABCC6_000376" "g.16248912C>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16155055C>T" "" "benign" "" "0000146457" "0" "11" "16" "16248681" "16248681" "subst" "0.210476" "00240" "ABCC6_000328" "g.16248681G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16154824G>A" "" "benign" "" "0000146458" "0" "11" "16" "16248476" "16248476" "subst" "0.0152659" "00240" "ABCC6_000329" "g.16248476C>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16154619C>T" "" "benign" "" "0000146459" "0" "11" "16" "16244533" "16244533" "subst" "0" "00240" "ABCC6_000208" "g.16244533G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16150676G>A" "" "benign" "" "0000146460" "0" "11" "16" "16308351" "16308351" "subst" "0.0574747" "00240" "ABCC6_000224" "g.16308351G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16214494G>A" "" "benign" "" "0000146461" "0" "11" "16" "16308158" "16308158" "subst" "0.00232644" "00240" "ABCC6_000225" "g.16308158G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16214301G>A" "" "benign" "" "0000146462" "0" "55" "16" "16281059" "16281059" "subst" "0" "00240" "ABCC6_000370" "g.16281059G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "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." "Germline" "" "" "0" "" "" "g.16187202G>A" "" "VUS" "" "0000146463" "0" "11" "16" "16259596" "16259596" "subst" "0.0209464" "00240" "ABCC6_000124" "g.16259596G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16165739G>A" "" "benign" "" "0000146464" "0" "99" "16" "16253371" "16253371" "subst" "2.43692E-5" "00240" "ABCC6_000151" "g.16253371G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16159514G>A" "" "pathogenic" "" "0000146465" "0" "99" "16" "16248755" "16248755" "subst" "4.18253E-6" "00240" "ABCC6_000188" "g.16248755C>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16154898C>A" "" "pathogenic" "" "0000146466" "0" "11" "16" "16276345" "16276345" "subst" "0.0137667" "00240" "ABCC6_000075" "g.16276345C>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16182488C>T" "" "benign" "" "0000146467" "0" "99" "16" "16271479" "16271479" "subst" "2.84366E-5" "00240" "ABCC6_000092" "g.16271479C>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16177622C>T" "" "pathogenic" "" "0000146468" "0" "99" "16" "16271480" "16271480" "subst" "1.62493E-5" "00240" "ABCC6_000091" "g.16271480G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16177623G>A" "" "pathogenic" "" "0000146469" "0" "99" "16" "16295926" "16295926" "subst" "0.000321206" "00240" "ABCC6_000028" "g.16295926T>C" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16202069T>C" "" "pathogenic" "" "0000146470" "0" "99" "16" "16259618" "16259618" "subst" "0" "00240" "ABCC6_000122" "g.16259618G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16165761G>T" "" "pathogenic" "" "0000146471" "0" "99" "16" "16271375" "16271375" "subst" "0" "00240" "ABCC6_000099" "g.16271375G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16177518G>A" "" "pathogenic" "" "0000146472" "0" "97" "16" "16253339" "16253339" "subst" "2.84474E-5" "00240" "ABCC6_000158" "g.16253339C>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16159482C>A" "" "pathogenic" "" "0000146473" "0" "99" "16" "16313512" "16313512" "subst" "1.91961E-5" "00240" "ABCC6_000368" "g.16313512C>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16219655C>A" "" "pathogenic" "" "0000146474" "0" "99" "16" "16313499" "16313499" "subst" "1.88034E-5" "00240" "ABCC6_000005" "g.16313499C>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16219642C>T" "" "pathogenic" "" "0000146475" "0" "11" "16" "16276292" "16276292" "subst" "0.0163564" "00240" "ABCC6_000078" "g.16276292T>C" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16182435T>C" "" "benign" "" "0000146476" "0" "99" "16" "16295970" "16295970" "subst" "4.0662E-6" "00240" "ABCC6_000024" "g.16295970A>C" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16202113A>C" "" "pathogenic" "" "0000146477" "0" "99" "16" "16284172" "16284172" "subst" "8.12328E-6" "00240" "ABCC6_000043" "g.16284172A>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16190315A>T" "" "pathogenic" "" "0000146478" "0" "99" "16" "16276701" "16276701" "subst" "0" "00240" "ABCC6_000071" "g.16276701A>G" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16182844A>G" "" "pathogenic" "" "0000146479" "0" "31" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "likely benign" "" "0000146480" "0" "99" "16" "16259678" "16259680" "del" "3.25137E-5" "00240" "ABCC6_000120" "g.16259678_16259680del" "" "{PMID:Miksch 2005:16086317}" "" "3106_3108delTTT" "" "Germline" "" "rs72664230" "0" "" "" "g.16165821_16165823del" "" "pathogenic" "" "0000146481" "0" "55" "16" "16259643" "16259645" "del" "0" "00240" "ABCC6_000372" "g.16259643_16259645del" "" "{PMID:Miksch 2005:16086317}" "" "3141delCTT" "" "Germline" "" "" "0" "" "" "g.16165786_16165788del" "" "VUS" "" "0000146482" "0" "99" "16" "16282815" "16282815" "subst" "4.07163E-6" "00240" "ABCC6_000051" "g.16282815A>G" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16188958A>G" "" "pathogenic" "" "0000146483" "0" "99" "16" "16256994" "16256994" "subst" "4.06421E-6" "00240" "ABCC6_000131" "g.16256994G>A" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16163137G>A" "" "pathogenic" "" "0000146484" "0" "99" "16" "16297314" "16297314" "subst" "0" "00240" "ABCC6_000369" "g.16297314G>Y" "" "{PMID:Miksch 2005:16086317}" "" "951C>A/G" "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." "Germline" "" "" "0" "" "" "g.16203457G>Y" "" "pathogenic" "" "0000146485" "0" "99" "16" "16292024" "16292024" "subst" "0" "00240" "ABCC6_000035" "g.16292024T>C" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16198167T>C" "" "pathogenic" "" "0000146486" "0" "99" "16" "16276354" "16276354" "subst" "0" "00240" "ABCC6_000074" "g.16276354C>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16182497C>T" "" "pathogenic" "" "0000146487" "0" "11" "16" "16284116" "16284116" "subst" "0.00105218" "00240" "ABCC6_000046" "g.16284116C>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16190259C>T" "" "benign" "" "0000146488" "0" "99" "16" "16243989" "16317292" "del" "0" "00240" "ABCC6_000350" "g.16243989_16317292del" "" "{PMID:Miksch 2005:16086317}" "" "" "del ABCC6 ABCC1 MYH11 +5\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000146489" "0" "99" "16" "16243989" "16317292" "del" "0" "00240" "ABCC6_000350" "g.16243989_16317292del" "" "{PMID:Miksch 2005:16086317}" "" "" "del ABCC6 ABCC1 MYH11 +7\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000146490" "0" "99" "16" "16243989" "16317292" "del" "0" "00240" "ABCC6_000350" "g.16243989_16317292del" "" "{PMID:Miksch 2005:16086317}" "" "" "del ABCC6 ABCC1\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000146491" "0" "77" "16" "16251584" "16251584" "subst" "0" "00240" "ABCC6_000165" "g.16251584C>T" "" "{PMID:Meyer 2005:16086762}" "" "" "" "Germline" "" "" "0" "" "" "g.16157727C>T" "" "likely pathogenic" "" "0000146492" "0" "97" "16" "16244585" "16244585" "subst" "2.4497E-5" "00240" "ABCC6_000205" "g.16244585C>T" "" "{PMID:Meyer 2005:16086762}" "" "" "" "Germline" "" "" "0" "" "" "g.16150728C>T" "" "pathogenic" "" "0000146493" "0" "77" "16" "16251525" "16251525" "subst" "4.06616E-6" "00240" "ABCC6_000169" "g.16251525C>T" "" "{PMID:Meyer 2005:16086762}" "" "" "" "Germline" "" "" "0" "" "" "g.16157668C>T" "" "likely pathogenic" "" "0000146494" "0" "15" "16" "16244424" "16244424" "subst" "7.08599E-5" "00240" "ABCC6_000332" "g.16244424G>C" "" "{PMID:Schulz 2005:16127278}" "" "IVS30+11C>G" "" "Germline" "" "" "0" "" "" "g.16150567G>C" "" "benign" "" "0000146495" "0" "55" "16" "16276247" "16276247" "subst" "0.000682466" "00240" "ABCC6_000268" "g.16276247A>C" "" "{PMID:Schulz 2005:16127278}" "" "" "" "Germline" "" "" "0" "" "" "g.16182390A>C" "" "VUS" "" "0000146496" "0" "55" "16" "16256835" "16256835" "subst" "2.03416E-5" "00240" "ABCC6_000306" "g.16256835C>T" "" "{PMID:Schulz 2005:16127278}" "" "" "" "Germline" "" "" "0" "" "" "g.16162978C>T" "" "VUS" "" "0000146497" "0" "11" "16" "16244584" "16244584" "subst" "0.00708433" "00240" "ABCC6_000206" "g.16244584C>T" "" "{PMID:Schulz 2005:16127278}" "" "Arg1418Arg" "" "Germline" "" "" "0" "" "" "g.16150727C>T" "" "benign" "" "0000146498" "0" "15" "16" "16276767" "16276767" "subst" "0" "00240" "ABCC6_000061" "g.16276767T>C" "" "{PMID:Schulz 2005:16127278}" "" "" "" "Germline" "" "" "0" "" "" "g.16182910T>C" "" "benign" "" "0000146499" "0" "55" "16" "16276741" "16276741" "subst" "0.000442986" "00240" "ABCC6_000065" "g.16276741G>A" "" "{PMID:Schulz 2005:16127278}" "" "" "" "Germline" "" "" "0" "" "" "g.16182884G>A" "" "VUS" "" "0000146500" "0" "11" "16" "16313412" "16313412" "subst" "0" "00240" "ABCC6_000006" "g.16313412G>A" "" "{PMID:Schulz 2005:16392638}" "" "" "" "Germline" "" "" "0" "" "" "g.16219555G>A" "" "benign" "" "0000146501" "0" "99" "16" "16248839" "16248839" "subst" "0" "00240" "ABCC6_000178" "g.16248839C>T" "" "{PMID:Schulz 2005:16392638}" "" "" "" "Germline" "" "" "0" "" "" "g.16154982C>T" "" "pathogenic" "" "0000146502" "0" "97" "16" "16253359" "16253359" "subst" "0" "00240" "ABCC6_000154" "g.16253359A>G" "" "{PMID:Schulz 2005:16392638}" "" "" "" "Germline" "" "" "0" "" "" "g.16159502A>G" "" "pathogenic" "" "0000146503" "0" "99" "16" "16271467" "16271467" "subst" "2.84317E-5" "00240" "ABCC6_000094" "g.16271467G>A" "" "{PMID:Ringpfeil 2006:16410789}" "" "" "" "Germline" "" "" "0" "" "" "g.16177610G>A" "" "pathogenic" "" "0000146504" "0" "55" "16" "16306050" "16306050" "subst" "0" "00240" "ABCC6_000010" "g.16306050C>A" "" "{PMID:Ringpfeil 2006:16410789}" "" "" "" "Germline" "" "" "0" "" "" "g.16212193C>A" "" "VUS" "" "0000146505" "0" "55" "16" "16306050" "16306050" "subst" "0" "00240" "ABCC6_000010" "g.16306050C>A" "" "{PMID:Ringpfeil 2006:16410789}" "" "" "" "Germline" "" "" "0" "" "" "g.16212193C>A" "" "VUS" "" "0000146506" "0" "95" "16" "16256848" "16256851" "del" "0" "00240" "ABCC6_000305" "g.16256848_16256851del" "" "{PMID:Schulz 2006:16835894}" "" "3505+2del4" "" "Germline" "" "" "0" "" "" "g.16162991_16162994del" "" "pathogenic" "" "0000146507" "0" "99" "16" "16315689" "16315689" "subst" "1.6852E-5" "00240" "ABCC6_000221" "g.16315689C>T" "" "{PMID:Schulz 2006:16835894}" "" "" "" "Germline" "" "" "0" "" "" "g.16221832C>T" "" "pathogenic" "" "0000146508" "0" "97" "16" "16284196" "16284196" "subst" "1.62479E-5" "00240" "ABCC6_000042" "g.16284196C>T" "" "{PMID:Schulz 2006:16835894}" "" "" "" "Germline" "" "" "0" "" "" "g.16190339C>T" "" "pathogenic" "" "0000146509" "0" "97" "16" "16284165" "16284165" "subst" "8.12315E-6" "00240" "ABCC6_000044" "g.16284165G>T" "" "{PMID:Schulz 2006:16835894}" "" "" "" "Germline" "" "" "0" "" "" "g.16190308G>T" "" "pathogenic" "" "0000146510" "0" "55" "16" "16259598" "16259598" "subst" "0" "00240" "ABCC6_000378" "g.16259598A>G" "" "{PMID:Schulz 2006:16835894}" "" "" "" "Germline" "" "" "0" "" "" "g.16165741A>G" "" "VUS" "" "0000146511" "0" "97" "16" "16259598" "16259598" "subst" "8.12599E-6" "00240" "ABCC6_000123" "g.16259598A>C" "" "{PMID:Schulz 2006:16835894}" "" "" "" "Germline" "" "" "0" "" "" "g.16165741A>C" "" "pathogenic" "" "0000146512" "0" "75" "16" "16302625" "16302625" "subst" "1.21959E-5" "00240" "ABCC6_000014" "g.16302625G>A" "" "{PMID:Schulz 2006:16835894}" "" "" "" "Germline" "" "" "0" "" "" "g.16208768G>A" "" "likely pathogenic" "" "0000146513" "0" "55" "16" "16302625" "16302625" "subst" "0" "00240" "ABCC6_000377" "g.16302625B>A" "" "{PMID:Schulz 2006:16835894}" "" "" "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." "Germline" "" "" "0" "" "" "g.16208768B>A" "" "VUS" "" "0000146514" "0" "99" "16" "16284081" "16284081" "dup" "0" "00240" "ABCC6_000049" "g.16284081dup" "" "{PMID:Schulz 2006:16835894}" "" "1574insG" "" "Germline" "" "" "0" "" "" "g.16190224dup" "" "pathogenic" "" "0000146515" "0" "95" "16" "16259641" "16259641" "subst" "4.87555E-5" "00240" "ABCC6_000121" "g.16259641A>C" "" "{PMID:Schulz 2006:16835894}" "" "" "" "Germline" "" "" "0" "" "" "g.16165784A>C" "" "pathogenic" "" "0000146516" "0" "95" "16" "16315612" "16315612" "subst" "2.0607E-5" "00240" "ABCC6_000002" "g.16315612C>G" "" "{PMID:Schulz 2006:16835894}" "" "" "" "Germline" "" "" "0" "" "" "g.16221755C>G" "" "pathogenic" "" "0000146517" "0" "75" "16" "16291972" "16291972" "subst" "0" "00240" "ABCC6_000037" "g.16291972A>G" "" "{PMID:Schulz 2006:16835894}" "" "" "" "Germline" "" "" "0" "" "" "g.16198115A>G" "" "likely pathogenic" "" "0000146518" "0" "97" "16" "16263650" "16263650" "subst" "0.000554806" "00240" "ABCC6_000112" "g.16263650C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16169793C>T" "" "pathogenic" "" "0000146519" "0" "99" "16" "16248755" "16248755" "subst" "1.67301E-5" "00240" "ABCC6_000189" "g.16248755C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16154898C>T" "" "pathogenic" "" "0000146520" "0" "99" "16" "16248501" "16248501" "subst" "1.63968E-5" "00240" "ABCC6_000201" "g.16248501G>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16154644G>A" "" "pathogenic" "" "0000146521" "0" "97" "16" "16295890" "16295890" "subst" "5.28601E-5" "00240" "ABCC6_000032" "g.16295890G>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16202033G>A" "" "pathogenic" "" "0000146522" "0" "99" "16" "16315540" "16315548" "del" "0" "00240" "ABCC6_000379" "g.16315540_16315548del" "" "{PMID:Pfendner 2007:17617515}" "" "179del12ins3" "" "Germline" "" "" "0" "" "" "g.16221683_16221691del" "" "pathogenic" "" "0000146523" "0" "97" "16" "16269791" "16269791" "subst" "8.12632E-6" "00240" "ABCC6_000104" "g.16269791C>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16175934C>A" "" "pathogenic" "" "0000146524" "0" "97" "16" "16272741" "16272741" "subst" "0" "00240" "ABCC6_000087" "g.16272741C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16178884C>T" "" "pathogenic" "" "0000146525" "0" "99" "16" "16276736" "16276736" "del" "0" "00240" "ABCC6_000069" "g.16276736del" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16182879del" "" "pathogenic" "" "0000146526" "0" "99" "16" "16244505" "16244505" "del" "0" "00240" "ABCC6_000211" "g.16244505del" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16150648del" "" "pathogenic" "" "0000146527" "0" "99" "16" "16256929" "16256929" "subst" "0" "00240" "ABCC6_000143" "g.16256929G>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16163072G>A" "" "pathogenic" "" "0000146528" "0" "99" "16" "16295947" "16295947" "subst" "0" "00240" "ABCC6_000026" "g.16295947G>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16202090G>A" "" "pathogenic" "" "0000146529" "0" "97" "16" "16276423" "16276423" "subst" "0" "00240" "ABCC6_000072" "g.16276423T>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16182566T>G" "" "pathogenic" "" "0000146530" "0" "99" "16" "16302655" "16302655" "subst" "0" "00240" "ABCC6_000012" "g.16302655C>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16208798C>A" "" "pathogenic" "" "0000146531" "0" "99" "16" "16256958" "16256958" "subst" "0" "00240" "ABCC6_000137" "g.16256958C>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16163101C>G" "" "pathogenic" "" "0000146532" "0" "97" "16" "16244061" "16244061" "subst" "5.70874E-5" "00240" "ABCC6_000215" "g.16244061C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16150204C>T" "" "pathogenic" "" "0000146533" "0" "97" "16" "16244001" "16244001" "subst" "0" "00240" "ABCC6_000217" "g.16244001C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16150144C>T" "" "pathogenic" "" "0000146534" "0" "97" "16" "16276744" "16276744" "subst" "8.20338E-6" "00240" "ABCC6_000063" "g.16276744C>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16182887C>A" "" "pathogenic" "" "0000146535" "0" "97" "16" "16272807" "16272807" "subst" "3.28149E-5" "00240" "ABCC6_000081" "g.16272807C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16178950C>T" "" "pathogenic" "" "0000146536" "0" "97" "16" "16259712" "16259712" "subst" "0" "00240" "ABCC6_000381" "g.16259712A>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16165855A>G" "" "pathogenic" "" "0000146537" "0" "97" "16" "16253398" "16253398" "subst" "0" "00240" "ABCC6_000150" "g.16253398G>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16159541G>T" "" "pathogenic" "" "0000146538" "0" "99" "16" "16248767" "16248767" "subst" "0" "00240" "ABCC6_000186" "g.16248767A>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16154910A>T" "" "pathogenic" "" "0000146539" "0" "97" "16" "16286730" "16286730" "subst" "0" "00240" "ABCC6_000041" "g.16286730A>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16192873A>T" "" "pathogenic" "" "0000146540" "0" "97" "16" "16276339" "16276339" "subst" "0" "00240" "ABCC6_000077" "g.16276339A>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16182482A>G" "" "pathogenic" "" "0000146541" "0" "97" "16" "16295858" "16295858" "subst" "0" "00240" "ABCC6_000034" "g.16295858C>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16202001C>G" "" "pathogenic" "" "0000146542" "0" "99" "16" "16297314" "16297314" "subst" "0" "00240" "ABCC6_000369" "g.16297314G>Y" "" "{PMID:Pfendner 2007:17617515}" "" "951C>A/G" "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." "Germline" "" "" "0" "" "" "g.16203457G>Y" "" "pathogenic" "" "0000146543" "0" "97" "16" "16284053" "16284053" "subst" "0" "00240" "ABCC6_000050" "g.16284053A>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16190196A>G" "" "pathogenic" "" "0000146544" "0" "97" "16" "16263667" "16263667" "subst" "0" "00240" "ABCC6_000109" "g.16263667G>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16169810G>A" "" "pathogenic" "" "0000146545" "0" "99" "16" "16253352" "16253352" "subst" "8.12599E-6" "00240" "ABCC6_000156" "g.16253352C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16159495C>T" "" "pathogenic" "" "0000146546" "0" "99" "16" "16263684" "16263684" "subst" "0" "00240" "ABCC6_000106" "g.16263684G>C" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16169827G>C" "" "pathogenic" "" "0000146547" "0" "55" "16" "16272711" "16272711" "subst" "0" "00240" "ABCC6_000089" "g.16272711C>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16178854C>A" "" "VUS" "" "0000146548" "1" "99" "16" "16244082" "16244082" "subst" "0" "00240" "ABCC6_000213" "g.16244082T>A" "" "{PMID:Audo 2007:17724214}" "" "" "" "Germline" "" "rs72653751" "0" "" "" "g.16150225T>A" "" "pathogenic" "" "0000146549" "0" "99" "16" "16288729" "16295943" "del" "0" "00240" "ABCC6_000384" "g.16288729_16295943del" "" "{PMID:Chassaing 2007:17823974}" "" "" "" "Germline" "" "" "0" "" "" "g.16194872_16202086del" "" "pathogenic" "" "0000146550" "0" "99" "16" "16249938" "16258055" "del" "0" "00240" "ABCC6_000383" "g.16249938_16258055del" "" "{PMID:Chassaing 2007:17823974}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.16156081_16164198del" "" "pathogenic" "" "0000146551" "0" "99" "16" "16316077" "16320482" "del" "0" "00240" "ABCC6_000382" "g.16316077_16320482del" "" "{PMID:Chassaing 2007:17823974}" "" "1-3189_36+1181del" "" "Germline" "" "" "0" "" "" "g.16222220_16226625del" "" "pathogenic" "" "0000146552" "0" "99" "16" "16282794" "16282794" "del" "0" "00240" "ABCC6_000391" "g.16282794del" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16188937del" "" "pathogenic" "" "0000146553" "0" "99" "16" "16315546" "16315550" "del" "0" "00240" "ABCC6_000385" "g.16315546_16315550del" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16221689_16221693del" "" "pathogenic" "" "0000146554" "0" "99" "16" "16272791" "16272791" "subst" "1.63415E-5" "00240" "ABCC6_000392" "g.16272791C>T" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16178934C>T" "" "pathogenic" "" "0000146555" "0" "99" "16" "16272777" "16272777" "subst" "1.22202E-5" "00240" "ABCC6_000393" "g.16272777G>A" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16178920G>A" "" "pathogenic" "" "0000146556" "0" "97" "16" "16286722" "16286722" "subst" "0" "00240" "ABCC6_000388" "g.16286722T>A" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16192865T>A" "" "pathogenic" "" "0000146557" "0" "97" "16" "16272691" "16272691" "subst" "0" "00240" "ABCC6_000394" "g.16272691G>C" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16178834G>C" "" "pathogenic" "" "0000146558" "0" "97" "16" "16263555" "16263555" "subst" "4.57016E-5" "00240" "ABCC6_000395" "g.16263555C>A" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16169698C>A" "" "pathogenic" "" "0000146559" "0" "97" "16" "16284093" "16284093" "subst" "0" "00240" "ABCC6_000390" "g.16284093C>G" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16190236C>G" "" "pathogenic" "" "0000146560" "0" "97" "16" "16251615" "16251615" "subst" "2.44322E-5" "00240" "ABCC6_000396" "g.16251615C>T" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16157758C>T" "" "pathogenic" "" "0000146561" "0" "97" "16" "16244622" "16244622" "subst" "0" "00240" "ABCC6_000397" "g.16244622C>T" "" "{PMID:Vanakker 2008:18157818}" "" "" "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." "Germline" "" "" "0" "" "" "g.16150765C>T" "" "pathogenic" "" "0000146562" "0" "99" "16" "16276735" "16276735" "subst" "0" "00240" "ABCC6_000068" "g.16276735C>A" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16182878C>A" "" "pathogenic" "" "0000146563" "0" "99" "16" "16292024" "16292024" "subst" "0" "00240" "ABCC6_000387" "g.16292024G>C" "" "{PMID:Vanakker 2008:18157818}" "" "" "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." "Germline" "" "" "0" "" "" "g.16198167G>C" "" "pathogenic" "" "0000146564" "0" "99" "16" "16278858" "16278858" "subst" "0" "00240" "ABCC6_000386" "g.16278858G>A" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16185001G>A" "" "pathogenic" "" "0000146565" "0" "97" "16" "16284158" "16284158" "subst" "0" "00240" "ABCC6_000389" "g.16284158T>G" "" "{PMID:Vanakker 2008:18157818}" "" "" "" "Germline" "" "" "0" "" "" "g.16190301T>G" "" "pathogenic" "" "0000146566" "0" "99" "16" "16256992" "16256992" "del" "0" "00240" "ABCC6_000132" "g.16256992del" "" "{PMID:Plomp 2008:18253096}" "" "" "" "Germline" "" "" "0" "" "" "g.16163135del" "" "pathogenic" "" "0000146567" "0" "99" "16" "16251531" "16251531" "subst" "0.00672121" "00240" "ABCC6_000168" "g.16251531C>T" "" "{PMID:Plomp 2008:18253096}" "" "" "" "Germline" "" "" "0" "" "" "g.16157674C>T" "" "pathogenic" "" "0000146568" "0" "97" "16" "16263607" "16263607" "subst" "8.83556E-6" "00240" "ABCC6_000116" "g.16263607C>G" "" "{PMID:Plomp 2008:18253096}" "" "" "" "Germline" "" "" "0" "" "" "g.16169750C>G" "" "pathogenic" "" "0000146569" "0" "99" "16" "16244528" "16244534" "del" "0" "00240" "ABCC6_000209" "g.16244528_16244534del" "" "{PMID:Plomp 2008:18253096}" "" "" "" "Germline" "" "" "0" "" "" "g.16150671_16150677del" "" "pathogenic" "" "0000146570" "0" "97" "16" "16271422" "16271422" "subst" "3.65503E-5" "00240" "ABCC6_000096" "g.16271422A>G" "" "{PMID:Plomp 2008:18253096}" "" "" "" "Germline" "" "" "0" "" "" "g.16177565A>G" "" "pathogenic" "" "0000146571" "0" "97" "16" "16282782" "16282782" "subst" "0" "00240" "ABCC6_000052" "g.16282782A>G" "" "{PMID:Plomp 2008:18253096}" "" "" "" "Germline" "" "" "0" "" "" "g.16188925A>G" "" "pathogenic" "" "0000146572" "0" "99" "16" "16259579" "16259579" "subst" "4.06415E-6" "00240" "ABCC6_000125" "g.16259579G>T" "" "{PMID:Plomp 2008:18253096}" "" "" "" "Germline" "" "" "0" "" "" "g.16165722G>T" "" "pathogenic" "" "0000146573" "0" "99" "16" "16253357" "16253357" "subst" "0" "00240" "ABCC6_000155" "g.16253357A>C" "" "{PMID:Plomp 2008:18253096}" "" "" "" "Germline" "" "" "0" "" "" "g.16159500A>C" "" "pathogenic" "" "0000146574" "0" "99" "16" "16271484" "16271485" "del" "0" "00240" "ABCC6_000405" "g.16271484_16271485del" "" "" "" "IVS18-2delAG" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.16177627_16177628del" "" "pathogenic" "" "0000146575" "0" "99" "16" "16249938" "16258055" "del" "0" "00240" "ABCC6_000383" "g.16249938_16258055del" "" "" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.16156081_16164198del" "" "pathogenic" "" "0000146576" "0" "97" "16" "16297265" "16297265" "del" "0" "00240" "ABCC6_000339" "g.16297265del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16203408del" "" "pathogenic" "" "0000146577" "0" "11" "16" "16263663" "16263663" "subst" "0.0856229" "00240" "ABCC6_000110" "g.16263663G>A" "" "" "" "Pro945Pro" "" "Germline" "" "" "0" "" "" "g.16169806G>A" "" "benign" "" "0000146578" "0" "99" "16" "16256957" "16256957" "subst" "0" "00240" "ABCC6_000410" "g.16256957G>A" "" "" "" "Gly1133Gly" "" "Germline" "" "" "0" "" "" "g.16163100G>A" "" "pathogenic" "" "0000146579" "0" "55" "16" "16313545" "16313545" "subst" "0.0248278" "00240" "ABCC6_000223" "g.16313545C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16219688C>T" "" "VUS" "" "0000146580" "0" "11" "16" "16248793" "16248793" "subst" "0.000198389" "00240" "ABCC6_000183" "g.16248793G>A" "" "" "" "Asp1326Asp" "" "Germline" "" "" "0" "" "" "g.16154936G>A" "" "benign" "" "0000146581" "0" "55" "16" "16284165" "16284165" "subst" "8.12315E-6" "00240" "ABCC6_000044" "g.16284165G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16190308G>T" "" "VUS" "" "0000146582" "0" "55" "16" "16248772" "16248772" "subst" "0" "00240" "ABCC6_000184" "g.16248772C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154915C>T" "" "VUS" "" "0000146583" "0" "99" "16" "16276271" "16276271" "subst" "0" "00240" "ABCC6_000079" "g.16276271G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16182414G>A" "" "pathogenic" "" "0000146584" "0" "99" "16" "16263524" "16263524" "subst" "0" "00240" "ABCC6_000118" "g.16263524C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16169667C>G" "" "pathogenic" "" "0000146585" "0" "55" "16" "16302637" "16302637" "subst" "0.000792999" "00240" "ABCC6_000013" "g.16302637G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16208780G>A" "" "VUS" "" "0000146586" "0" "55" "16" "16256975" "16256975" "subst" "8.12539E-6" "00240" "ABCC6_000134" "g.16256975C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163118C>T" "" "VUS" "" "0000146587" "0" "55" "16" "16244054" "16244054" "subst" "6.13612E-5" "00240" "ABCC6_000216" "g.16244054G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16150197G>A" "" "VUS" "" "0000146588" "0" "55" "16" "16248800" "16248800" "subst" "0" "00240" "ABCC6_000182" "g.16248800C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154943C>T" "" "VUS" "" "0000146589" "0" "99" "16" "16271388" "16271388" "subst" "8.12229E-6" "00240" "ABCC6_000098" "g.16271388G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16177531G>T" "" "pathogenic" "" "0000146590" "0" "11" "16" "16284265" "16284265" "subst" "0.339173" "00240" "ABCC6_000247" "g.16284265T>C" "" "{PMID:Le Saux 2000:10835642}" "" "IVS11-41A>G" "" "Germline" "yes" "" "0" "" "" "g.16190408T>C" "" "benign" "" "0000146591" "0" "11" "16" "16248934" "16248934" "subst" "0.00316279" "00240" "ABCC6_000325" "g.16248934T>C" "" "{PMID:Le Saux 2000:10835642}" "" "IVS27-46A>G" "" "Germline" "yes" "" "0" "" "" "g.16155077T>C" "" "benign" "" "0000146592" "0" "11" "16" "16281007" "16281007" "subst" "0.425009" "00240" "ABCC6_000057" "g.16281007A>G" "" "{PMID:Le Saux 2000:10835642}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16187150A>G" "" "benign" "" "0000146593" "0" "11" "16" "16243973" "16243973" "subst" "0.0665227" "00240" "ABCC6_000218" "g.16243973C>T" "" "{PMID:Le Saux 2000:10835642}" "" "3\'UTR+17G>A" "" "Germline" "yes" "" "0" "" "" "g.16150116C>T" "" "benign" "" "0000146594" "0" "99" "16" "16243973" "16243973" "subst" "0.0665227" "00240" "ABCC6_000218" "g.16243973C>T" "" "{PMID:Le Saux 2000:10835642}" "" "3\'UTR+17G>A" "" "Germline" "yes" "" "0" "" "" "g.16150116C>T" "" "pathogenic" "" "0000146595" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146596" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146597" "0" "99" "16" "16248934" "16248934" "subst" "0.00316279" "00240" "ABCC6_000325" "g.16248934T>C" "" "{PMID:Le Saux 2000:10835642}" "" "IVS27-46A>G" "" "Germline" "yes" "" "0" "" "" "g.16155077T>C" "" "pathogenic" "" "0000146598" "0" "11" "16" "16308232" "16308232" "subst" "0" "00240" "ABCC6_000007" "g.16308232C>T" "" "{PMID:Le Saux 2000:10835642}" "" "L183L" "" "Germline" "yes" "" "0" "" "" "g.16214375C>T" "" "benign" "" "0000146599" "1" "99" "16" "16251627" "16251627" "del" "8.97058E-5" "00240" "ABCC6_000162" "g.16251627del" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16157770del" "" "pathogenic" "" "0000146600" "1" "11" "16" "16308232" "16308232" "subst" "0" "00240" "ABCC6_000007" "g.16308232C>T" "" "{PMID:Le Saux 2000:10835642}" "" "L183L" "" "Germline" "yes" "" "0" "" "" "g.16214375C>T" "" "benign" "" "0000146601" "1" "11" "16" "16284265" "16284265" "subst" "0.339173" "00240" "ABCC6_000247" "g.16284265T>C" "" "{PMID:Le Saux 2000:10835642}" "" "IVS11-41A>G" "" "Germline" "yes" "" "0" "" "" "g.16190408T>C" "" "benign" "" "0000146602" "0" "11" "16" "16255205" "16255205" "subst" "0" "00240" "ABCC6_000312" "g.16255205C>T" "" "{PMID:Le Saux 2000:10835642}" "" "IVS25+90G>A" "" "Germline" "yes" "" "0" "" "" "g.16161348C>T" "" "benign" "" "0000146603" "0" "55" "16" "16276713" "16276713" "subst" "2.46134E-5" "00240" "ABCC6_000070" "g.16276713A>G" "" "{PMID:Le Saux 2000:10835642}" "" "" "" "Germline" "" "" "0" "" "" "g.16182856A>G" "" "VUS" "" "0000146604" "0" "55" "16" "16290377" "16290377" "subst" "0" "00240" "ABCC6_000236" "g.16290377C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16196520C>T" "" "VUS" "" "0000146605" "0" "55" "16" "16290330" "16290330" "subst" "0" "00240" "ABCC6_000237" "g.16290330G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16196473G>A" "" "VUS" "" "0000146606" "0" "55" "16" "16289726" "16289726" "subst" "0" "00240" "ABCC6_000238" "g.16289726C>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16195869C>A" "" "VUS" "" "0000146607" "0" "55" "16" "16289597" "16289597" "subst" "0" "00240" "ABCC6_000239" "g.16289597T>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16195740T>G" "" "VUS" "" "0000146608" "0" "55" "16" "16289532" "16289532" "subst" "0" "00240" "ABCC6_000240" "g.16289532T>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16195675T>C" "" "VUS" "" "0000146609" "0" "55" "16" "16288756" "16288756" "subst" "0" "00240" "ABCC6_000242" "g.16288756C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16194899C>T" "" "VUS" "" "0000146610" "0" "55" "16" "16289126" "16289126" "subst" "0" "00240" "ABCC6_000241" "g.16289126G>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16195269G>C" "" "VUS" "" "0000146611" "0" "55" "16" "16284439" "16284439" "subst" "0" "00240" "ABCC6_000244" "g.16284439T>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16190582T>C" "" "VUS" "" "0000146612" "0" "55" "16" "16284272" "16284272" "subst" "0.987638" "00240" "ABCC6_000245" "g.16284272C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16190415C>T" "" "VUS" "" "0000146613" "0" "55" "16" "16282943" "16282943" "subst" "0" "00240" "ABCC6_000250" "g.16282943G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16189086G>A" "" "VUS" "" "0000146614" "0" "55" "16" "16283071" "16283071" "subst" "0" "00240" "ABCC6_000249" "g.16283071C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16189214C>T" "" "VUS" "" "0000146615" "0" "55" "16" "16282307" "16282307" "subst" "0" "00240" "ABCC6_000251" "g.16282307G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16188450G>A" "" "VUS" "" "0000146616" "0" "55" "16" "16281154" "16281154" "subst" "0" "00240" "ABCC6_000252" "g.16281154C>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16187297C>A" "" "VUS" "" "0000146617" "0" "55" "16" "16280776" "16280776" "subst" "0" "00240" "ABCC6_000255" "g.16280776G>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16186919G>C" "" "VUS" "" "0000146618" "0" "55" "16" "16280405" "16280405" "subst" "0" "00240" "ABCC6_000256" "g.16280405C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16186548C>T" "" "VUS" "" "0000146619" "0" "55" "16" "16280921" "16280921" "subst" "0" "00240" "ABCC6_000254" "g.16280921T>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16187064T>C" "" "VUS" "" "0000146620" "0" "55" "16" "16279048" "16279048" "subst" "0" "00240" "ABCC6_000259" "g.16279048G>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16185191G>C" "" "VUS" "" "0000146621" "0" "55" "16" "16279283" "16279283" "subst" "0" "00240" "ABCC6_000258" "g.16279283G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16185426G>A" "" "VUS" "" "0000146622" "0" "55" "16" "16279714" "16279714" "subst" "0" "00240" "ABCC6_000257" "g.16279714G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16185857G>A" "" "VUS" "" "0000146623" "0" "55" "16" "16278695" "16278695" "subst" "0" "00240" "ABCC6_000264" "g.16278695A>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16184838A>T" "" "VUS" "" "0000146624" "0" "55" "16" "16278050" "16278050" "subst" "0" "00240" "ABCC6_000265" "g.16278050C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16184193C>T" "" "VUS" "" "0000146625" "0" "55" "16" "16276964" "16276964" "subst" "0" "00240" "ABCC6_000267" "g.16276964C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16183107C>T" "" "VUS" "" "0000146626" "0" "55" "16" "16277685" "16277685" "subst" "0" "00240" "ABCC6_000266" "g.16277685G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16183828G>A" "" "VUS" "" "0000146627" "0" "55" "16" "16276737" "16276737" "subst" "0" "00240" "ABCC6_000066" "g.16276737A>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16182880A>G" "" "VUS" "" "0000146628" "0" "55" "16" "16275967" "16275967" "subst" "0" "00240" "ABCC6_000269" "g.16275967G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16182110G>A" "" "VUS" "" "0000146629" "0" "55" "16" "16275412" "16275412" "subst" "0" "00240" "ABCC6_000270" "g.16275412G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16181555G>A" "" "VUS" "" "0000146630" "0" "55" "16" "16274206" "16274206" "subst" "0" "00240" "ABCC6_000271" "g.16274206C>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16180349C>G" "" "VUS" "" "0000146631" "0" "55" "16" "16273374" "16273374" "subst" "0" "00240" "ABCC6_000272" "g.16273374C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16179517C>T" "" "VUS" "" "0000146632" "0" "55" "16" "16272508" "16272508" "subst" "0" "00240" "ABCC6_000273" "g.16272508G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16178651G>A" "" "VUS" "" "0000146633" "0" "15" "16" "16271357" "16271357" "subst" "0.992256" "00240" "ABCC6_000100" "g.16271357T>C" "" "HapMap" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.16177500T>C" "" "benign" "" "0000146634" "0" "55" "16" "16270904" "16270904" "subst" "0" "00240" "ABCC6_000274" "g.16270904C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16177047C>T" "" "VUS" "" "0000146635" "0" "55" "16" "16270850" "16270850" "subst" "0" "00240" "ABCC6_000275" "g.16270850C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16176993C>T" "" "VUS" "" "0000146636" "0" "55" "16" "16269962" "16269962" "subst" "0" "00240" "ABCC6_000278" "g.16269962G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16176105G>A" "" "VUS" "" "0000146637" "0" "55" "16" "16270046" "16270046" "subst" "0" "00240" "ABCC6_000277" "g.16270046A>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16176189A>G" "" "VUS" "" "0000146638" "0" "55" "16" "16270174" "16270174" "subst" "0" "00240" "ABCC6_000276" "g.16270174T>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16176317T>C" "" "VUS" "" "0000146639" "0" "55" "16" "16269570" "16269570" "subst" "0" "00240" "ABCC6_000279" "g.16269570A>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16175713A>G" "" "VUS" "" "0000146640" "0" "55" "16" "16269269" "16269269" "subst" "0" "00240" "ABCC6_000280" "g.16269269G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16175412G>A" "" "VUS" "" "0000146641" "0" "55" "16" "16268868" "16268868" "subst" "0" "00240" "ABCC6_000281" "g.16268868G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16175011G>A" "" "VUS" "" "0000146642" "0" "55" "16" "16267233" "16267233" "subst" "0" "00240" "ABCC6_000105" "g.16267233G>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16173376G>C" "" "VUS" "" "0000146643" "0" "55" "16" "16265714" "16265714" "subst" "0" "00240" "ABCC6_000284" "g.16265714G>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16171857G>C" "" "VUS" "" "0000146644" "0" "55" "16" "16265561" "16265561" "subst" "0" "00240" "ABCC6_000285" "g.16265561C>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16171704C>A" "" "VUS" "" "0000146645" "0" "55" "16" "16267079" "16267079" "subst" "0" "00240" "ABCC6_000283" "g.16267079A>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16173222A>G" "" "VUS" "" "0000146646" "0" "55" "16" "16263837" "16263837" "subst" "0" "00240" "ABCC6_000288" "g.16263837T>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16169980T>C" "" "VUS" "" "0000146647" "0" "55" "16" "16264098" "16264098" "subst" "0" "00240" "ABCC6_000287" "g.16264098T>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16170241T>G" "" "VUS" "" "0000146648" "0" "55" "16" "16264416" "16264416" "subst" "0" "00240" "ABCC6_000286" "g.16264416A>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16170559A>G" "" "VUS" "" "0000146649" "0" "55" "16" "16262174" "16262174" "subst" "0" "00240" "ABCC6_000291" "g.16262174C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16168317C>T" "" "VUS" "" "0000146650" "0" "55" "16" "16263361" "16263361" "subst" "0" "00240" "ABCC6_000289" "g.16263361G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16169504G>A" "" "VUS" "" "0000146651" "0" "55" "16" "16262572" "16262572" "subst" "0" "00240" "ABCC6_000290" "g.16262572G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16168715G>A" "" "VUS" "" "0000146652" "0" "55" "16" "16260818" "16260818" "subst" "0" "00240" "ABCC6_000296" "g.16260818C>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16166961C>A" "" "VUS" "" "0000146653" "0" "55" "16" "16261003" "16261003" "subst" "0" "00240" "ABCC6_000295" "g.16261003C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16167146C>T" "" "VUS" "" "0000146654" "0" "55" "16" "16261143" "16261143" "subst" "0" "00240" "ABCC6_000294" "g.16261143C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16167286C>T" "" "VUS" "" "0000146655" "0" "55" "16" "16261170" "16261170" "subst" "0" "00240" "ABCC6_000293" "g.16261170G>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16167313G>C" "" "VUS" "" "0000146656" "0" "55" "16" "16261251" "16261251" "subst" "0" "00240" "ABCC6_000292" "g.16261251C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16167394C>T" "" "VUS" "" "0000146657" "0" "55" "16" "16260342" "16260342" "subst" "0" "00240" "ABCC6_000299" "g.16260342C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16166485C>T" "" "VUS" "" "0000146658" "0" "55" "16" "16260427" "16260427" "subst" "0" "00240" "ABCC6_000298" "g.16260427C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16166570C>T" "" "VUS" "" "0000146659" "0" "55" "16" "16260443" "16260443" "subst" "0" "00240" "ABCC6_000297" "g.16260443A>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16166586A>G" "" "VUS" "" "0000146660" "0" "55" "16" "16258949" "16258949" "subst" "0" "00240" "ABCC6_000300" "g.16258949G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16165092G>A" "" "VUS" "" "0000146661" "0" "55" "16" "16258830" "16258830" "subst" "0" "00240" "ABCC6_000301" "g.16258830T>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16164973T>C" "" "VUS" "" "0000146662" "0" "55" "16" "16258625" "16258625" "subst" "0" "00240" "ABCC6_000302" "g.16258625C>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16164768C>A" "" "VUS" "" "0000146663" "0" "55" "16" "16258173" "16258173" "subst" "0" "00240" "ABCC6_000303" "g.16258173G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16164316G>A" "" "VUS" "" "0000146664" "0" "55" "16" "16257410" "16257410" "subst" "0" "00240" "ABCC6_000304" "g.16257410C>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16163553C>A" "" "VUS" "" "0000146665" "0" "55" "16" "16257946" "16257946" "subst" "0" "00240" "ABCC6_000400" "g.16257946A>B" "" "HapMap" "" "" "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." "Germline" "" "" "0" "" "" "g.16164089A>B" "" "VUS" "" "0000146666" "0" "55" "16" "16256678" "16256678" "subst" "0" "00240" "ABCC6_000308" "g.16256678G>A" "" "HapMap" "" "" "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." "Germline" "" "" "0" "" "" "g.16162821G>A" "" "VUS" "" "0000146667" "0" "55" "16" "16254766" "16254766" "subst" "0" "00240" "ABCC6_000313" "g.16254766T>C" "" "HapMap" "" "" "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." "Germline" "" "" "0" "" "" "g.16160909T>C" "" "VUS" "" "0000146668" "0" "55" "16" "16253570" "16253570" "subst" "0" "00240" "ABCC6_000316" "g.16253570C>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16159713C>T" "" "VUS" "" "0000146669" "0" "55" "16" "16253834" "16253834" "subst" "0" "00240" "ABCC6_000315" "g.16253834G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16159977G>A" "" "VUS" "" "0000146670" "0" "55" "16" "16253946" "16253946" "subst" "0" "00240" "ABCC6_000314" "g.16253946C>T" "" "HapMap" "" "" "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." "Germline" "" "" "0" "" "" "g.16160089C>T" "" "VUS" "" "0000146671" "0" "55" "16" "16252696" "16252696" "subst" "0" "00240" "ABCC6_000318" "g.16252696T>C" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16158839T>C" "" "VUS" "" "0000146672" "0" "55" "16" "16251899" "16251899" "subst" "0" "00240" "ABCC6_000322" "g.16251899T>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16158042T>G" "" "VUS" "" "0000146673" "0" "55" "16" "16252000" "16252000" "subst" "0" "00240" "ABCC6_000321" "g.16252000T>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16158143T>G" "" "VUS" "" "0000146674" "0" "55" "16" "16252168" "16252168" "subst" "0" "00240" "ABCC6_000320" "g.16252168G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16158311G>A" "" "VUS" "" "0000146675" "0" "55" "16" "16252382" "16252382" "subst" "0" "00240" "ABCC6_000319" "g.16252382C>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16158525C>A" "" "VUS" "" "0000146676" "0" "55" "16" "16250989" "16250989" "subst" "0" "00240" "ABCC6_000323" "g.16250989G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16157132G>A" "" "VUS" "" "0000146677" "0" "55" "16" "16250598" "16250598" "subst" "0" "00240" "ABCC6_000324" "g.16250598C>G" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16156741C>G" "" "VUS" "" "0000146678" "0" "55" "16" "16247471" "16247471" "subst" "0" "00240" "ABCC6_000330" "g.16247471A>T" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16153614A>T" "" "VUS" "" "0000146679" "0" "55" "16" "16244739" "16244739" "subst" "0" "00240" "ABCC6_000412" "g.16244739G>A" "" "HapMap" "" "" "" "Germline" "" "" "0" "" "" "g.16150882G>A" "" "VUS" "" "0000146681" "0" "55" "16" "16291958" "16291958" "subst" "2.05371E-5" "00240" "ABCC6_000403" "g.16291958G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16198101G>C" "" "VUS" "" "0000146682" "2" "99" "16" "16248485" "16259790" "del" "0" "00240" "ABCC6_000355" "g.16248485_16259790del" "" "{PMID:Le Saux 2001:11536079}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.16154628_16165933del" "" "pathogenic" "" "0000146683" "2" "99" "16" "16248867" "16248867" "subst" "5.03512E-5" "00240" "ABCC6_000174" "g.16248867C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16155010C>T" "" "pathogenic" "" "0000146684" "2" "99" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "pathogenic" "" "0000146685" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146686" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146687" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146688" "2" "99" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "pathogenic" "" "0000146689" "2" "55" "16" "16297314" "16297314" "subst" "0" "00240" "ABCC6_000369" "g.16297314G>Y" "" "" "" "" "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." "Germline" "" "" "0" "" "" "g.16203457G>Y" "" "VUS" "" "0000146690" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146691" "2" "55" "16" "16244001" "16244001" "subst" "0" "00240" "ABCC6_000217" "g.16244001C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16150144C>T" "" "VUS" "" "0000146692" "2" "99" "16" "16276279" "16276280" "ins" "0" "00240" "ABCC6_000380" "g.16276279_16276280insCTCTGCACCA" "" "{PMID:Pfendner 2007:17617515}" "" "2237ins10" "" "Germline" "" "" "0" "" "" "g.16182422_16182423insCTCTGCACCA" "" "pathogenic" "" "0000146693" "2" "99" "16" "16248861" "16248861" "del" "0" "00240" "ABCC6_000176" "g.16248861del" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16155004del" "" "pathogenic" "" "0000146694" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146695" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146696" "2" "55" "16" "16315620" "16315620" "del" "4.13199E-6" "00240" "ABCC6_000001" "g.16315620del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16221763del" "" "VUS" "" "0000146697" "2" "55" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000146698" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146699" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146700" "2" "55" "16" "16315540" "16315548" "del" "0" "00240" "ABCC6_000379" "g.16315540_16315548del" "" "" "" "179del12insTCC" "" "Germline" "" "" "0" "" "" "g.16221683_16221691del" "" "VUS" "" "0000146701" "2" "55" "16" "16315540" "16315548" "del" "0" "00240" "ABCC6_000379" "g.16315540_16315548del" "" "" "" "179del12insTCC" "" "Germline" "" "" "0" "" "" "g.16221683_16221691del" "" "VUS" "" "0000146702" "2" "99" "16" "16253412" "16253412" "subst" "2.0307E-5" "00240" "ABCC6_000148" "g.16253412C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16159555C>T" "" "pathogenic" "" "0000146703" "2" "55" "16" "16297265" "16297266" "del" "0" "00240" "ABCC6_000367" "g.16297265_16297266del" "" "" "" "997+2delTG" "" "Germline" "" "" "0" "" "" "g.16203408_16203409del" "" "VUS" "" "0000146704" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146705" "2" "55" "16" "16248867" "16248867" "subst" "5.03512E-5" "00240" "ABCC6_000174" "g.16248867C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16155010C>T" "" "VUS" "" "0000146706" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146707" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146708" "2" "55" "16" "16267140" "16267140" "subst" "0.000125995" "00240" "ABCC6_000344" "g.16267140C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16173283C>A" "" "VUS" "" "0000146709" "2" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146710" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146711" "1" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146712" "2" "59" "16" "16297327" "16297327" "dup" "0" "00240" "ABCC6_000360" "g.16297327dup" "" "" "" "938-939insT" "" "Germline" "" "" "0" "" "" "g.16203470dup" "" "VUS" "" "0000146713" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146714" "2" "55" "16" "16248861" "16248861" "del" "0" "00240" "ABCC6_000176" "g.16248861del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16155004del" "" "VUS" "" "0000146715" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146716" "2" "99" "16" "16295943" "16295943" "subst" "2.033E-5" "00240" "ABCC6_000027" "g.16295943G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16202086G>C" "" "pathogenic" "" "0000146717" "2" "99" "16" "16295943" "16295943" "subst" "2.033E-5" "00240" "ABCC6_000027" "g.16295943G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16202086G>C" "" "pathogenic" "" "0000146718" "2" "99" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "pathogenic" "" "0000146719" "2" "99" "16" "16284053" "16284053" "subst" "0" "00240" "ABCC6_000050" "g.16284053A>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16190196A>G" "" "pathogenic" "" "0000146720" "2" "55" "16" "16267140" "16267140" "subst" "0.000125995" "00240" "ABCC6_000344" "g.16267140C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16173283C>A" "" "VUS" "" "0000146721" "2" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146722" "2" "99" "16" "16256967" "16256967" "subst" "6.09449E-5" "00240" "ABCC6_000135" "g.16256967G>A" "" "{PMID:Götting 2004:14631379}" "" "" "" "Germline" "" "" "0" "" "" "g.16163110G>A" "" "pathogenic" "" "0000146723" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146724" "2" "99" "16" "16295863" "16295863" "subst" "0.00557184" "00240" "ABCC6_000033" "g.16295863T>C" "" "{PMID:Chassaing 2004:15086542}" "" "" "" "Germline" "" "" "0" "" "" "g.16202006T>C" "" "pathogenic" "" "0000146725" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146726" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146727" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146728" "2" "99" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "pathogenic" "" "0000146729" "2" "99" "16" "16253413" "16253413" "subst" "1.62464E-5" "00240" "ABCC6_000147" "g.16253413G>A" "" "{PMID:Noji 2004:15645653}" "" "" "" "Germline" "" "" "0" "" "" "g.16159556G>A" "" "pathogenic" "" "0000146730" "2" "99" "16" "16253413" "16253413" "subst" "1.62464E-5" "00240" "ABCC6_000147" "g.16253413G>A" "" "{PMID:Noji 2004:15645653}" "" "" "" "Germline" "" "" "0" "" "" "g.16159556G>A" "" "pathogenic" "" "0000146731" "2" "99" "16" "16295890" "16295890" "subst" "5.28601E-5" "00240" "ABCC6_000032" "g.16295890G>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16202033G>A" "" "pathogenic" "" "0000146732" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146733" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146734" "2" "99" "16" "16284104" "16284104" "subst" "4.06336E-5" "00240" "ABCC6_000047" "g.16284104G>A" "" "{PMID:Meloni 2001:11439001}" "" "" "" "Germline" "" "" "0" "" "" "g.16190247G>A" "" "pathogenic" "" "0000146735" "2" "99" "16" "16248867" "16248867" "subst" "5.03512E-5" "00240" "ABCC6_000174" "g.16248867C>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16155010C>T" "" "pathogenic" "" "0000146736" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146737" "2" "99" "16" "16248767" "16248767" "subst" "0" "00240" "ABCC6_000186" "g.16248767A>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16154910A>T" "" "pathogenic" "" "0000146738" "2" "99" "16" "16284103" "16284103" "subst" "8.53221E-5" "00240" "ABCC6_000048" "g.16284103C>T" "" "{PMID:Uitto 2001:11427982}" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146739" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146740" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146741" "2" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146742" "2" "99" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "pathogenic" "" "0000146743" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146744" "2" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146745" "2" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146746" "2" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146747" "2" "99" "16" "16272766" "16272766" "subst" "0" "00240" "ABCC6_000085" "g.16272766G>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16178909G>T" "" "pathogenic" "" "0000146748" "2" "99" "16" "16272766" "16272766" "subst" "0" "00240" "ABCC6_000085" "g.16272766G>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16178909G>T" "" "pathogenic" "" "0000146749" "2" "55" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000146750" "2" "55" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000146751" "2" "55" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "VUS" "" "0000146752" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146753" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146754" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146755" "2" "99" "16" "16248589" "16248589" "del" "2.05153E-5" "00240" "ABCC6_000198" "g.16248589del" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16154732del" "" "pathogenic" "" "0000146756" "1" "55" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000146757" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146758" "2" "55" "16" "16248867" "16248867" "subst" "5.03512E-5" "00240" "ABCC6_000174" "g.16248867C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16155010C>T" "" "VUS" "" "0000146759" "2" "55" "16" "16267140" "16267140" "subst" "0.000125995" "00240" "ABCC6_000344" "g.16267140C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16173283C>A" "" "VUS" "" "0000146760" "2" "55" "16" "16256944" "16256944" "subst" "4.46867E-5" "00240" "ABCC6_000138" "g.16256944G>A" "" "{PMID:Ringpfeil 2000:10811882}" "" "" "" "Germline" "" "" "0" "" "" "g.16163087G>A" "" "VUS" "" "0000146761" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146762" "2" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146763" "2" "55" "16" "16272766" "16272766" "subst" "0" "00240" "ABCC6_000085" "g.16272766G>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16178909G>T" "" "VUS" "" "0000146764" "2" "55" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "VUS" "" "0000146765" "2" "55" "16" "16248755" "16248755" "subst" "1.67301E-5" "00240" "ABCC6_000189" "g.16248755C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16154898C>T" "" "VUS" "" "0000146766" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146767" "2" "55" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "VUS" "" "0000146768" "2" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146769" "2" "97" "16" "16248893" "16248893" "subst" "0" "00240" "ABCC6_000327" "g.16248893C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16155036C>T" "" "pathogenic" "" "0000146770" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146771" "2" "97" "16" "16276656" "16276656" "subst" "0" "00240" "ABCC6_000341" "g.16276656C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16182799C>T" "" "pathogenic" "" "0000146772" "2" "55" "16" "16244505" "16244505" "del" "0" "00240" "ABCC6_000211" "g.16244505del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16150648del" "" "VUS" "" "0000146773" "2" "99" "16" "16248624" "16248624" "subst" "4.56057E-5" "00240" "ABCC6_000196" "g.16248624G>A" "" "{PMID:Noji 2004:15645653}" "" "" "" "Germline" "" "" "0" "" "" "g.16154767G>A" "" "pathogenic" "" "0000146774" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146775" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146776" "2" "55" "16" "16263662" "16263662" "subst" "0.0164859" "00240" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Miksch 2005:16086317}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "VUS" "" "0000146777" "2" "55" "16" "16313792" "16313792" "subst" "0.000508808" "00240" "ABCC6_000408" "g.16313792C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16219935C>T" "" "VUS" "" "0000146778" "2" "55" "16" "16248501" "16248501" "subst" "1.63968E-5" "00240" "ABCC6_000201" "g.16248501G>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16154644G>A" "" "VUS" "" "0000146779" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146780" "2" "97" "16" "16248746" "16248746" "subst" "8.31421E-6" "00240" "ABCC6_000190" "g.16248746A>G" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16154889A>G" "" "pathogenic" "" "0000146781" "2" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146782" "2" "55" "16" "16284103" "16284103" "subst" "8.53221E-5" "00240" "ABCC6_000048" "g.16284103C>T" "" "{PMID:Uitto 2001:11427982}" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "VUS" "" "0000146783" "2" "55" "16" "16272807" "16272807" "subst" "3.28149E-5" "00240" "ABCC6_000081" "g.16272807C>T" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16178950C>T" "" "VUS" "" "0000146784" "2" "55" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000146785" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146786" "2" "99" "16" "16251633" "16251633" "dup" "0" "00240" "ABCC6_000161" "g.16251633dup" "" "{PMID:Pfendner 2007:17617515}" "" "3774insC" "identical to rs72664220" "Germline" "" "rs72664221" "0" "" "" "g.16157776dup" "" "pathogenic" "" "0000146787" "2" "97" "16" "16276419" "16276419" "subst" "2.03247E-5" "00240" "ABCC6_000073" "g.16276419C>A" "" "{PMID:Pfendner 2007:17617515}" "" "" "" "Germline" "" "" "0" "" "" "g.16182562C>A" "" "pathogenic" "" "0000146788" "2" "55" "16" "16248831" "16248831" "subst" "0.000173115" "00240" "ABCC6_000179" "g.16248831G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "VUS" "" "0000146789" "2" "55" "16" "16248831" "16248831" "subst" "0.000173115" "00240" "ABCC6_000179" "g.16248831G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "VUS" "" "0000146790" "20" "99" "16" "16248767" "16248767" "subst" "0" "00240" "ABCC6_000185" "g.16248767A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154910A>G" "" "pathogenic" "" "0000146791" "2" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146792" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146793" "2" "99" "16" "16272766" "16272766" "subst" "0" "00240" "ABCC6_000085" "g.16272766G>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16178909G>T" "" "pathogenic" "" "0000146794" "2" "55" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "VUS" "" "0000146795" "2" "99" "16" "16272766" "16272766" "subst" "0" "00240" "ABCC6_000085" "g.16272766G>T" "" "{PMID:Le Saux 2001:11536079}" "" "" "" "Germline" "" "" "0" "" "" "g.16178909G>T" "" "pathogenic" "" "0000146796" "2" "99" "16" "16256866" "16256866" "subst" "0.000162514" "00240" "ABCC6_000144" "g.16256866G>A" "" "{PMID:Struk 2000:10954200}" "" "" "" "Germline" "" "" "0" "" "" "g.16163009G>A" "" "pathogenic" "" "0000146797" "2" "99" "16" "16267140" "16267140" "subst" "0.000125995" "00240" "ABCC6_000344" "g.16267140C>A" "" "{PMID:Bergen 2000:10835643}" "" "IVS21+1G>T" "" "Germline" "" "" "0" "" "" "g.16173283C>A" "" "pathogenic" "" "0000146798" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146799" "2" "55" "16" "16248755" "16248755" "subst" "1.67301E-5" "00240" "ABCC6_000189" "g.16248755C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154898C>T" "" "VUS" "" "0000146800" "2" "55" "16" "16245107" "16261514" "del" "0" "00240" "ABCC6_000364" "g.16245107_16261514del" "" "" "" "del23-29" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "VUS" "" "0000146801" "2" "55" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "VUS" "" "0000146802" "2" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146803" "2" "55" "16" "16248756" "16248756" "subst" "8.40704E-5" "00240" "ABCC6_000187" "g.16248756G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "VUS" "" "0000146804" "2" "55" "16" "16284103" "16284103" "subst" "8.53221E-5" "00240" "ABCC6_000048" "g.16284103C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "VUS" "" "0000146805" "2" "55" "16" "16297265" "16297266" "del" "0" "00240" "ABCC6_000367" "g.16297265_16297266del" "" "" "" "997+2delTG" "" "Germline" "" "" "0" "" "" "g.16203408_16203409del" "" "VUS" "" "0000146806" "0" "11" "16" "16243973" "16243973" "subst" "0.0665227" "00240" "ABCC6_000218" "g.16243973C>T" "" "{PMID:Le Saux 2000:10835642}" "" "3\'UTR+17G>A" "" "Germline" "yes" "" "0" "" "" "g.16150116C>T" "" "benign" "" "0000146807" "1" "99" "16" "16267140" "16267140" "subst" "0.000125995" "00240" "ABCC6_000344" "g.16267140C>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0002}" "" "IVS21+1G>T" "" "Germline" "yes" "" "0" "" "" "g.16173283C>A" "" "pathogenic" "" "0000146808" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146809" "0" "11" "16" "16243973" "16243973" "subst" "0.0665227" "00240" "ABCC6_000218" "g.16243973C>T" "" "{PMID:Le Saux 2000:10835642}" "" "3\'UTR+17G>A" "" "Germline" "yes" "" "0" "" "" "g.16150116C>T" "" "benign" "" "0000146810" "1" "99" "16" "16267140" "16267140" "subst" "0.000125995" "00240" "ABCC6_000344" "g.16267140C>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0002}" "" "IVS21+1G>T" "" "Germline" "yes" "" "0" "" "" "g.16173283C>A" "" "pathogenic" "" "0000146811" "0" "11" "16" "16248602" "16248602" "subst" "0" "00240" "ABCC6_000349" "g.16248602G>A" "" "{PMID:Le Saux 2000:10835642}" "" "IVS28+49C>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." "Germline" "yes" "" "0" "" "" "g.16154745G>A" "" "benign" "" "0000146812" "2" "99" "16" "16256943" "16256943" "subst" "7.71812E-5" "00240" "ABCC6_000139" "g.16256943C>T" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163086C>T" "" "pathogenic" "" "0000146813" "0" "11" "16" "16271409" "16271409" "subst" "0.139169" "00240" "ABCC6_000097" "g.16271409G>A" "" "{PMID:Le Saux 2000:10835642}" "" "Ala830Ala" "" "Germline" "yes" "" "0" "" "" "g.16177552G>A" "" "benign" "" "0000146814" "0" "11" "16" "16248602" "16248602" "subst" "0" "00240" "ABCC6_000349" "g.16248602G>A" "" "{PMID:Le Saux 2000:10835642}" "" "IVS28+49C>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." "Germline" "yes" "" "0" "" "" "g.16154745G>A" "" "benign" "" "0000146815" "1" "99" "16" "16257015" "16257015" "subst" "0" "00240" "ABCC6_000127" "g.16257015C>G" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0004}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163158C>G" "" "pathogenic" "" "0000146816" "2" "99" "16" "16257015" "16257015" "subst" "0" "00240" "ABCC6_000127" "g.16257015C>G" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0004}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163158C>G" "" "pathogenic" "" "0000146817" "1" "99" "16" "16248831" "16248831" "subst" "0.000173115" "00240" "ABCC6_000179" "g.16248831G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000146818" "2" "99" "16" "16248831" "16248831" "subst" "0.000173115" "00240" "ABCC6_000179" "g.16248831G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000146819" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146820" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146821" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146822" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146823" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146824" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146825" "0" "11" "16" "16284265" "16284265" "subst" "0.339173" "00240" "ABCC6_000247" "g.16284265T>C" "" "{PMID:Le Saux 2000:10835642}" "" "IVS11-41A>G" "" "Germline" "yes" "" "0" "" "" "g.16190408T>C" "" "benign" "" "0000146826" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146827" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00240" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Le Saux 2000:10835642}, {OMIM603234:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146828" "1" "11" "16" "16248934" "16248934" "subst" "0.00316279" "00240" "ABCC6_000325" "g.16248934T>C" "" "{PMID:Le Saux 2000:10835642}" "" "IVS27-46A>G" "" "Germline" "yes" "" "0" "" "" "g.16155077T>C" "" "benign" "" "0000146829" "0" "11" "16" "16248602" "16248602" "subst" "0" "00240" "ABCC6_000349" "g.16248602G>A" "" "{PMID:Le Saux 2000:10835642}" "" "IVS28+49C>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." "Germline" "yes" "" "0" "" "" "g.16154745G>A" "" "benign" "" "0000146830" "1" "99" "16" "16244619" "16244620" "ins" "0" "00006" "ABCC6_000204" "g.16244619_16244620insTCTT" "" "{PMID:Bergen 2000:10835643}" "" "4243insAGAA" "" "Germline" "yes" "" "0" "" "" "g.16150762_16150763insTCTT" "" "pathogenic" "" "0000146831" "0" "99" "16" "16244619" "16244620" "ins" "0" "00006" "ABCC6_000204" "g.16244619_16244620insTCTT" "" "{PMID:Bergen 2000:10835643}" "" "4244insAGAA" "not in 114 controls" "Germline" "yes" "" "0" "" "" "g.16150762_16150763insTCTT" "" "pathogenic" "" "0000146832" "1" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Bergen 2000:10835643}" "" "R1141X" "not on 100 controls" "Germline" "yes" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146833" "0" "75" "16" "16255424" "16255424" "subst" "0.0165402" "00006" "ABCC6_000310" "g.16255424G>A" "" "{PMID:Audo 2007:17724214}" "" "" "" "Germline" "" "rs41278172" "0" "" "" "g.16161567G>A" "" "likely pathogenic" "" "0000146834" "3" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Audo 2007:17724214}" "" "" "" "Germline" "" "rs72653706" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146835" "1" "99" "16" "16257015" "16257015" "subst" "0" "00006" "ABCC6_000127" "g.16257015C>G" "" "{PMID:Audo 2007:17724214}" "" "" "" "Germline" "" "rs63750427" "0" "" "" "g.16163158C>G" "" "pathogenic" "" "0000146836" "2" "99" "16" "16248484" "16259791" "" "0" "00006" "ABCC6_000411" "g.(16244630_16248484)_(16259791_16263502)del" "" "{PMID:Audo 2007:17724214}" "" "del23-29" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000146839" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "01806" "ABCC6_000030" "g.16295902G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000146840" "1" "90" "16" "16253412" "16253412" "subst" "2.0307E-5" "01806" "ABCC6_000148" "g.16253412C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16159555C>T" "" "pathogenic" "" "0000146841" "1" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146842" "1" "90" "16" "16257015" "16257015" "subst" "1.22044E-5" "01806" "ABCC6_000128" "g.16257015C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163158C>T" "" "pathogenic" "" "0000146843" "1" "90" "16" "16256943" "16256943" "subst" "7.71812E-5" "01806" "ABCC6_000139" "g.16256943C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "pathogenic" "" "0000146844" "1" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146845" "1" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146846" "1" "90" "16" "16315612" "16315612" "subst" "2.0607E-5" "01806" "ABCC6_000002" "g.16315612C>G" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16221755C>G" "" "pathogenic" "" "0000146847" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "01806" "ABCC6_000030" "g.16295902G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000146848" "1" "90" "16" "16248831" "16248831" "subst" "0.000173115" "01806" "ABCC6_000179" "g.16248831G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000146849" "1" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146850" "1" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146851" "1" "90" "16" "16248756" "16248756" "subst" "8.40704E-5" "01806" "ABCC6_000187" "g.16248756G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "pathogenic" "" "0000146852" "1" "90" "16" "16253362" "16253362" "subst" "0" "01806" "ABCC6_000153" "g.16253362C>G" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16159505C>G" "" "pathogenic" "" "0000146853" "1" "90" "16" "16256865" "16256865" "subst" "2.43801E-5" "01806" "ABCC6_000145" "g.16256865C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163008C>T" "" "pathogenic" "" "0000146854" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146855" "1" "90" "16" "16282764" "16282764" "subst" "0.000121904" "01806" "ABCC6_000053" "g.16282764A>G" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16188907A>G" "" "pathogenic" "" "0000146856" "1" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146857" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "01806" "ABCC6_000030" "g.16295902G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000146858" "1" "90" "16" "16256944" "16256944" "subst" "4.46867E-5" "01806" "ABCC6_000138" "g.16256944G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163087G>A" "" "pathogenic" "" "0000146859" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146860" "1" "90" "16" "16257016" "16257016" "subst" "8.54388E-5" "01806" "ABCC6_000126" "g.16257016G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163159G>A" "" "pathogenic" "" "0000146861" "1" "90" "16" "16251625" "16251625" "subst" "0" "01806" "ABCC6_000354" "g.16251625C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16157768C>T" "" "pathogenic" "" "0000146862" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146863" "1" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146864" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146865" "1" "90" "16" "16284196" "16284196" "subst" "1.62479E-5" "01806" "ABCC6_000042" "g.16284196C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190339C>T" "" "pathogenic" "" "0000146866" "1" "90" "16" "16276736" "16276736" "del" "0" "01806" "ABCC6_000069" "g.16276736del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16182879del" "" "pathogenic" "" "0000146867" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146868" "1" "90" "16" "16284130" "16284130" "subst" "2.03133E-5" "01806" "ABCC6_000413" "g.16284130G>C" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190273G>C" "" "pathogenic" "" "0000146869" "1" "90" "16" "16267140" "16267140" "subst" "0.000125995" "01806" "ABCC6_000344" "g.16267140C>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16173283C>A" "" "pathogenic" "" "0000146870" "1" "90" "16" "16302637" "16302637" "subst" "0.000792999" "01806" "ABCC6_000013" "g.16302637G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16208780G>A" "" "pathogenic" "" "0000146871" "1" "90" "16" "16317255" "16317255" "subst" "0" "01806" "ABCC6_000414" "g.16317255C>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16223398C>A" "" "pathogenic" "" "0000146872" "1" "90" "16" "16256967" "16256967" "subst" "6.09449E-5" "01806" "ABCC6_000135" "g.16256967G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163110G>A" "" "pathogenic" "" "0000146873" "1" "90" "16" "16248831" "16248831" "subst" "0.000173115" "01806" "ABCC6_000179" "g.16248831G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000146874" "1" "90" "16" "16276736" "16276736" "del" "0" "01806" "ABCC6_000069" "g.16276736del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16182879del" "" "pathogenic" "" "0000146875" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146876" "1" "90" "16" "16278896" "16278896" "subst" "2.43964E-5" "01806" "ABCC6_000263" "g.16278896A>C" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16185039A>C" "" "pathogenic" "" "0000146877" "1" "90" "16" "16272807" "16272807" "subst" "3.28149E-5" "01806" "ABCC6_000081" "g.16272807C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16178950C>T" "" "pathogenic" "" "0000146878" "1" "90" "16" "16295863" "16295863" "subst" "0.00557184" "01806" "ABCC6_000033" "g.16295863T>C" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16202006T>C" "" "pathogenic" "" "0000146879" "1" "90" "16" "16251576" "16251588" "dup" "0" "01806" "ABCC6_000337" "g.16251576_16251588dup" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16157719_16157731dup" "" "pathogenic" "" "0000146880" "1" "90" "16" "16271479" "16271479" "subst" "2.84366E-5" "01806" "ABCC6_000092" "g.16271479C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16177622C>T" "" "pathogenic" "" "0000146881" "1" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146882" "1" "90" "16" "16248831" "16248831" "subst" "0.000173115" "01806" "ABCC6_000179" "g.16248831G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000146883" "1" "90" "16" "16248495" "16248495" "subst" "3.69722E-5" "01806" "ABCC6_000202" "g.16248495C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154638C>T" "" "pathogenic" "" "0000146884" "1" "90" "16" "16248495" "16248495" "subst" "3.69722E-5" "01806" "ABCC6_000202" "g.16248495C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154638C>T" "" "pathogenic" "" "0000146885" "1" "90" "16" "16253412" "16253412" "subst" "2.0307E-5" "01806" "ABCC6_000148" "g.16253412C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16159555C>T" "" "pathogenic" "" "0000146886" "1" "90" "16" "16272818" "16272818" "subst" "0" "01806" "ABCC6_000080" "g.16272818A>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16178961A>T" "" "pathogenic" "" "0000146887" "1" "90" "16" "16248495" "16248495" "subst" "3.69722E-5" "01806" "ABCC6_000202" "g.16248495C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154638C>T" "" "pathogenic" "" "0000146888" "1" "90" "16" "16284104" "16284104" "subst" "4.06336E-5" "01806" "ABCC6_000047" "g.16284104G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190247G>A" "" "pathogenic" "" "0000146889" "1" "90" "16" "16284104" "16284104" "subst" "4.06336E-5" "01806" "ABCC6_000047" "g.16284104G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190247G>A" "" "pathogenic" "" "0000146890" "1" "90" "16" "16245107" "16261514" "del" "0" "01806" "ABCC6_000364" "g.16245107_16261514del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "pathogenic" "" "0000146891" "1" "90" "16" "16253413" "16253413" "subst" "1.62464E-5" "01806" "ABCC6_000147" "g.16253413G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16159556G>A" "" "pathogenic" "" "0000146892" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146893" "1" "90" "16" "16256881" "16256881" "subst" "4.06157E-6" "01806" "ABCC6_000357" "g.16256881T>C" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163024T>C" "" "pathogenic" "" "0000146894" "1" "90" "16" "16302637" "16302637" "subst" "0.000792999" "01806" "ABCC6_000013" "g.16302637G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16208780G>A" "" "pathogenic" "" "0000146895" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "01806" "ABCC6_000030" "g.16295902G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000146896" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146897" "1" "90" "16" "16272818" "16272818" "subst" "0" "01806" "ABCC6_000080" "g.16272818A>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16178961A>T" "" "pathogenic" "" "0000146898" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146899" "1" "90" "16" "16284172" "16284172" "subst" "8.12328E-6" "01806" "ABCC6_000043" "g.16284172A>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190315A>T" "" "pathogenic" "" "0000146900" "1" "90" "16" "16248495" "16248495" "subst" "3.69722E-5" "01806" "ABCC6_000202" "g.16248495C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154638C>T" "" "pathogenic" "" "0000146901" "1" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146902" "1" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146903" "1" "90" "16" "16295863" "16295863" "subst" "0.00557184" "01806" "ABCC6_000033" "g.16295863T>C" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16202006T>C" "" "pathogenic" "" "0000146904" "1" "90" "16" "16295863" "16295863" "subst" "0.00557184" "01806" "ABCC6_000033" "g.16295863T>C" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16202006T>C" "" "pathogenic" "" "0000146905" "1" "90" "16" "16295863" "16295863" "subst" "0.00557184" "01806" "ABCC6_000033" "g.16295863T>C" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16202006T>C" "" "pathogenic" "" "0000146906" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "01806" "ABCC6_000030" "g.16295902G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000146907" "1" "90" "16" "16271479" "16271479" "subst" "2.84366E-5" "01806" "ABCC6_000092" "g.16271479C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16177622C>T" "" "pathogenic" "" "0000146908" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146909" "1" "90" "16" "16267144" "16267144" "subst" "4.06303E-6" "01806" "ABCC6_000358" "g.16267144G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16173287G>A" "" "pathogenic" "" "0000146910" "1" "90" "16" "16248495" "16248495" "subst" "3.69722E-5" "01806" "ABCC6_000202" "g.16248495C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154638C>T" "" "pathogenic" "" "0000146911" "2" "90" "16" "16245107" "16261514" "del" "0" "01806" "ABCC6_000364" "g.16245107_16261514del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "pathogenic" "" "0000146912" "2" "90" "16" "16253412" "16253412" "subst" "2.0307E-5" "01806" "ABCC6_000148" "g.16253412C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16159555C>T" "" "pathogenic" "" "0000146913" "2" "90" "16" "16271467" "16271467" "subst" "1.2185E-5" "01806" "ABCC6_000366" "g.16271467G>C" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16177610G>C" "" "pathogenic" "" "0000146914" "2" "90" "16" "16251627" "16251627" "del" "8.97058E-5" "01806" "ABCC6_000162" "g.16251627del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16157770del" "" "pathogenic" "" "0000146915" "2" "90" "16" "16251633" "16251633" "dup" "0" "01806" "ABCC6_000161" "g.16251633dup" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16157776dup" "" "pathogenic" "" "0000146916" "2" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146917" "2" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146918" "2" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146919" "2" "90" "16" "16256943" "16256943" "subst" "7.71812E-5" "01806" "ABCC6_000139" "g.16256943C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163086C>T" "" "pathogenic" "" "0000146920" "2" "90" "16" "16248831" "16248831" "subst" "0.000173115" "01806" "ABCC6_000179" "g.16248831G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000146921" "2" "90" "16" "16251667" "16251667" "subst" "4.55977E-5" "01806" "ABCC6_000346" "g.16251667C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16157810C>T" "" "pathogenic" "" "0000146922" "2" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146923" "2" "90" "16" "16253362" "16253362" "subst" "0" "01806" "ABCC6_000153" "g.16253362C>G" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16159505C>G" "" "pathogenic" "" "0000146924" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146925" "2" "90" "16" "16248495" "16248495" "subst" "3.69722E-5" "01806" "ABCC6_000202" "g.16248495C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154638C>T" "" "pathogenic" "" "0000146926" "2" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146927" "2" "90" "16" "16248756" "16248756" "subst" "8.40704E-5" "01806" "ABCC6_000187" "g.16248756G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "pathogenic" "" "0000146928" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146929" "2" "90" "16" "16251625" "16251625" "subst" "0" "01806" "ABCC6_000354" "g.16251625C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16157768C>T" "" "pathogenic" "" "0000146930" "2" "90" "16" "16253362" "16253362" "subst" "0" "01806" "ABCC6_000153" "g.16253362C>G" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16159505C>G" "" "pathogenic" "" "0000146931" "2" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146932" "2" "90" "16" "16256865" "16256865" "subst" "2.43801E-5" "01806" "ABCC6_000145" "g.16256865C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163008C>T" "" "pathogenic" "" "0000146933" "2" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146934" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146935" "2" "90" "16" "16248864" "16248864" "subst" "0" "01806" "ABCC6_000175" "g.16248864C>G" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16155007C>G" "" "pathogenic" "" "0000146936" "2" "90" "16" "16245107" "16261514" "del" "0" "01806" "ABCC6_000364" "g.16245107_16261514del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "pathogenic" "" "0000146937" "2" "90" "16" "16248831" "16248831" "subst" "0.000173115" "01806" "ABCC6_000179" "g.16248831G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000146938" "2" "90" "16" "16248831" "16248831" "subst" "0.000173115" "01806" "ABCC6_000179" "g.16248831G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000146939" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146940" "2" "90" "16" "16248831" "16248831" "subst" "0.000173115" "01806" "ABCC6_000179" "g.16248831G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000146941" "2" "90" "16" "16276736" "16276736" "del" "0" "01806" "ABCC6_000069" "g.16276736del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16182879del" "" "pathogenic" "" "0000146942" "2" "90" "16" "16248767" "16248767" "subst" "0" "01806" "ABCC6_000186" "g.16248767A>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154910A>T" "" "pathogenic" "" "0000146943" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146944" "2" "90" "16" "16272807" "16272807" "subst" "3.28149E-5" "01806" "ABCC6_000081" "g.16272807C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16178950C>T" "" "pathogenic" "" "0000146945" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146946" "2" "90" "16" "16245107" "16261514" "del" "0" "01806" "ABCC6_000364" "g.16245107_16261514del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "pathogenic" "" "0000146947" "2" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146948" "2" "90" "16" "16248831" "16248831" "subst" "0.000173115" "01806" "ABCC6_000179" "g.16248831G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000146949" "2" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01806" "ABCC6_000048" "g.16284103C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190246C>T" "" "pathogenic" "" "0000146950" "2" "90" "16" "16253412" "16253412" "subst" "2.0307E-5" "01806" "ABCC6_000148" "g.16253412C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16159555C>T" "" "pathogenic" "" "0000146951" "2" "90" "16" "16272791" "16272791" "subst" "1.63415E-5" "01806" "ABCC6_000392" "g.16272791C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16178934C>T" "" "pathogenic" "" "0000146952" "2" "90" "16" "16248818" "16248818" "subst" "1.07024E-5" "01806" "ABCC6_000160" "g.16248818G>C" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154961G>C" "" "pathogenic" "" "0000146953" "2" "90" "16" "16284104" "16284104" "subst" "4.06336E-5" "01806" "ABCC6_000047" "g.16284104G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190247G>A" "" "pathogenic" "" "0000146954" "2" "90" "16" "16245107" "16261514" "del" "0" "01806" "ABCC6_000364" "g.16245107_16261514del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "pathogenic" "" "0000146955" "2" "90" "16" "16248501" "16248501" "subst" "1.63968E-5" "01806" "ABCC6_000201" "g.16248501G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154644G>A" "" "pathogenic" "" "0000146956" "2" "90" "16" "16245107" "16261514" "del" "0" "01806" "ABCC6_000364" "g.16245107_16261514del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "pathogenic" "" "0000146957" "2" "90" "16" "16248495" "16248495" "subst" "3.69722E-5" "01806" "ABCC6_000202" "g.16248495C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154638C>T" "" "pathogenic" "" "0000146958" "2" "90" "16" "16245107" "16261514" "del" "0" "01806" "ABCC6_000364" "g.16245107_16261514del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16151250_16167657del" "" "pathogenic" "" "0000146959" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146960" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146961" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146962" "2" "90" "16" "16284104" "16284104" "subst" "4.06336E-5" "01806" "ABCC6_000047" "g.16284104G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16190247G>A" "" "pathogenic" "" "0000146963" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146964" "2" "90" "16" "16272777" "16272777" "subst" "1.22202E-5" "01806" "ABCC6_000393" "g.16272777G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16178920G>A" "" "pathogenic" "" "0000146965" "2" "90" "16" "16248495" "16248495" "subst" "3.69722E-5" "01806" "ABCC6_000202" "g.16248495C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154638C>T" "" "pathogenic" "" "0000146966" "2" "90" "16" "16276788" "16276788" "subst" "0" "01806" "ABCC6_000371" "g.16276788C>G" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16182931C>G" "" "pathogenic" "" "0000146967" "2" "90" "16" "16259643" "16259645" "del" "0" "01806" "ABCC6_000372" "g.16259643_16259645del" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16165786_16165788del" "" "pathogenic" "" "0000146968" "2" "90" "16" "16248831" "16248831" "subst" "0.000173115" "01806" "ABCC6_000179" "g.16248831G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000146969" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146970" "2" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01806" "ABCC6_000142" "g.16256935G>A" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000146971" "2" "90" "16" "16248495" "16248495" "subst" "3.69722E-5" "01806" "ABCC6_000202" "g.16248495C>T" "" "Legrand, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16154638C>T" "" "pathogenic" "" "0000163351" "3" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163352" "3" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163353" "3" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163354" "3" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163355" "3" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163356" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163357" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163358" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163359" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163360" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163361" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163362" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163363" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163364" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163365" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163366" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163367" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163368" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163369" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163370" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163371" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163372" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163373" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163374" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163375" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163376" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163377" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163378" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163379" "1" "90" "16" "16271357" "16271357" "del" "0" "00006" "ABCC6_000101" "g.16271357delC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "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." "Germline" "" "" "0" "" "" "g.16177500delC" "" "pathogenic" "" "0000163380" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163381" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163382" "3" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163383" "3" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163384" "3" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163385" "3" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163386" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163387" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163388" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163389" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163390" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163391" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163392" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163393" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163394" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163395" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163396" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163397" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163398" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163399" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163400" "1" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163401" "3" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163402" "3" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163403" "3" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163404" "1" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163405" "1" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163406" "1" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163407" "3" "90" "16" "16308186" "16308186" "subst" "1.36909E-5" "00006" "ABCC6_000361" "g.16308186G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16214329G>A" "" "pathogenic" "" "0000163408" "3" "90" "16" "16308186" "16308186" "subst" "1.36909E-5" "00006" "ABCC6_000361" "g.16308186G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16214329G>A" "" "pathogenic" "" "0000163409" "1" "90" "16" "16308186" "16308186" "subst" "1.36909E-5" "00006" "ABCC6_000361" "g.16308186G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16214329G>A" "" "pathogenic" "" "0000163410" "1" "90" "16" "16308186" "16308186" "subst" "1.36909E-5" "00006" "ABCC6_000361" "g.16308186G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16214329G>A" "" "pathogenic" "" "0000163411" "3" "90" "16" "16248835" "16248835" "dup" "0" "00006" "ABCC6_000426" "g.16248835dup" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "3936insG" "" "Germline" "" "" "0" "" "" "g.16154978dup" "" "pathogenic" "" "0000163412" "3" "90" "16" "16248835" "16248835" "dup" "0" "00006" "ABCC6_000426" "g.16248835dup" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "3936insG" "" "Germline" "" "" "0" "" "" "g.16154978dup" "" "pathogenic" "" "0000163413" "3" "90" "16" "16291960" "16291960" "subst" "7.81012E-5" "00006" "ABCC6_000422" "g.16291960C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16198103C>T" "" "pathogenic" "" "0000163414" "3" "90" "16" "16291960" "16291960" "subst" "7.81012E-5" "00006" "ABCC6_000422" "g.16291960C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16198103C>T" "" "pathogenic" "" "0000163415" "1" "90" "16" "16291960" "16291960" "subst" "7.81012E-5" "00006" "ABCC6_000422" "g.16291960C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16198103C>T" "" "pathogenic" "" "0000163416" "1" "90" "16" "16291960" "16291960" "subst" "7.81012E-5" "00006" "ABCC6_000422" "g.16291960C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16198103C>T" "" "pathogenic" "" "0000163417" "1" "90" "16" "16291960" "16291960" "subst" "7.81012E-5" "00006" "ABCC6_000422" "g.16291960C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16198103C>T" "" "pathogenic" "" "0000163418" "3" "90" "16" "16256944" "16256944" "subst" "4.46867E-5" "00006" "ABCC6_000138" "g.16256944G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16163087G>A" "" "pathogenic" "" "0000163419" "3" "70" "16" "16256865" "16256865" "subst" "2.43801E-5" "00006" "ABCC6_000145" "g.16256865C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16163008C>T" "" "likely pathogenic" "" "0000163420" "3" "90" "16" "16255395" "16255395" "subst" "0" "00006" "ABCC6_000427" "g.16255395A>G" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16161538A>G" "" "pathogenic" "" "0000163421" "3" "70" "16" "16271422" "16271422" "subst" "3.65503E-5" "00006" "ABCC6_000096" "g.16271422A>G" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16177565A>G" "" "likely pathogenic" "" "0000163422" "1" "90" "16" "16276744" "16276744" "subst" "1.23051E-5" "00006" "ABCC6_000429" "g.16276744C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16182887C>T" "" "pathogenic" "" "0000163423" "1" "90" "16" "16244559" "16244559" "subst" "0" "00006" "ABCC6_000425" "g.16244559C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16150702C>T" "" "pathogenic" "" "0000163424" "2" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163425" "2" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163426" "2" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163427" "2" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163428" "2" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000163429" "2" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163430" "2" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163431" "2" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163432" "2" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163433" "2" "90" "16" "16308186" "16308186" "subst" "1.36909E-5" "00006" "ABCC6_000361" "g.16308186G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16214329G>A" "" "pathogenic" "" "0000163434" "2" "90" "16" "16308186" "16308186" "subst" "1.36909E-5" "00006" "ABCC6_000361" "g.16308186G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16214329G>A" "" "pathogenic" "" "0000163435" "2" "90" "16" "16297271" "16297271" "del" "0" "00006" "ABCC6_000423" "g.16297271del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16203414del" "" "pathogenic" "" "0000163436" "2" "90" "16" "16291960" "16291960" "subst" "7.81012E-5" "00006" "ABCC6_000422" "g.16291960C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16198103C>T" "" "pathogenic" "" "0000163437" "2" "90" "16" "16284191" "16284191" "subst" "2.03089E-5" "00006" "ABCC6_000430" "g.16284191G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16190334G>A" "" "pathogenic" "" "0000163438" "2" "90" "16" "16248756" "16248756" "subst" "8.40704E-5" "00006" "ABCC6_000187" "g.16248756G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16154899G>A" "" "pathogenic" "" "0000163439" "2" "90" "16" "16244559" "16244559" "subst" "0" "00006" "ABCC6_000425" "g.16244559C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16150702C>T" "" "pathogenic" "" "0000163440" "2" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163441" "2" "90" "16" "16313410" "16317328" "del" "0" "00006" "ABCC6_000420" "g.(16308307_16313410)_(16317328_?)del" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "deletion ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000163442" "2" "90" "16" "16308186" "16308186" "subst" "1.36909E-5" "00006" "ABCC6_000361" "g.16308186G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16214329G>A" "" "pathogenic" "" "0000163443" "2" "90" "16" "16256944" "16256944" "subst" "4.46867E-5" "00006" "ABCC6_000138" "g.16256944G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16163087G>A" "" "pathogenic" "" "0000163444" "2" "90" "16" "16291960" "16291960" "subst" "7.81012E-5" "00006" "ABCC6_000422" "g.16291960C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16198103C>T" "" "pathogenic" "" "0000163445" "2" "90" "16" "16259679" "16259679" "subst" "0" "00006" "ABCC6_000428" "g.16259679A>G" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16165822A>G" "" "pathogenic" "" "0000163446" "2" "90" "16" "16248624" "16248624" "subst" "4.56057E-5" "00006" "ABCC6_000196" "g.16248624G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16154767G>A" "" "pathogenic" "" "0000163447" "2" "90" "16" "16248624" "16248624" "subst" "4.56057E-5" "00006" "ABCC6_000196" "g.16248624G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16154767G>A" "" "pathogenic" "" "0000163448" "2" "70" "16" "16302592" "16302592" "subst" "0" "00006" "ABCC6_000424" "g.16302592C>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16208735C>A" "" "likely pathogenic" "" "0000163449" "2" "90" "16" "16308186" "16308186" "subst" "1.36909E-5" "00006" "ABCC6_000361" "g.16308186G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16214329G>A" "" "pathogenic" "" "0000163450" "2" "90" "16" "16308186" "16308186" "subst" "1.36909E-5" "00006" "ABCC6_000361" "g.16308186G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16214329G>A" "" "pathogenic" "" "0000163451" "2" "90" "16" "16244559" "16244559" "subst" "0" "00006" "ABCC6_000425" "g.16244559C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16150702C>T" "" "pathogenic" "" "0000163452" "2" "90" "16" "16313743" "16313744" "ins" "0" "00006" "ABCC6_000421" "g.16313743_16313744insC" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "281insG" "" "Germline" "" "" "0" "" "" "g.16219886_16219887insC" "" "pathogenic" "" "0000163453" "2" "90" "16" "16248624" "16248624" "subst" "4.56057E-5" "00006" "ABCC6_000196" "g.16248624G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16154767G>A" "" "pathogenic" "" "0000163454" "2" "90" "16" "16256944" "16256944" "subst" "4.46867E-5" "00006" "ABCC6_000138" "g.16256944G>A" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16163087G>A" "" "pathogenic" "" "0000163455" "2" "90" "16" "16244462" "16244462" "subst" "2.88063E-5" "00006" "ABCC6_000431" "g.16244462C>T" "" "{PMID:Iwanaga 2017:28186352-Pat}, {DOI:Iwanaga 2017:10.1111/1346-8138.13727}" "" "" "" "Germline" "" "" "0" "" "" "g.16150605C>T" "" "pathogenic" "" "0000163456" "2" "99" "16" "16248633" "16248633" "subst" "0" "00006" "ABCC6_000195" "g.16248633C>G" "" "{PMID:Pulkkinen 2001:11702217}" "" "G1354R" "" "Germline" "yes" "rs63750018" "0" "" "" "g.16154776C>G" "" "pathogenic" "" "0000163457" "2" "99" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Pulkkinen 2001:11702217}" "" "R1141X" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000163458" "0" "50" "16" "16295943" "16295943" "subst" "2.033E-5" "00006" "ABCC6_000027" "g.16295943G>C" "" "{PMID:Pulkkinen 2001:11702217}" "" "" "variant co-amplified from ABCC6P1 (scored as heterozygous)" "Artefact" "-" "" "0" "" "" "g.16202086G>C" "" "NA" "" "0000163459" "0" "50" "16" "16295957" "16295957" "subst" "0.00551057" "00006" "ABCC6_000025" "g.16295957T>C" "" "{PMID:Pulkkinen 2001:11702217}" "" "" "variant co-amplified from ABCC6P1 (scored as heterozygous)" "Artefact" "-" "" "0" "" "" "g.16202100T>C" "" "NA" "" "0000163460" "0" "50" "16" "16295893" "16295893" "subst" "4.47333E-5" "00006" "ABCC6_000031" "g.16295893A>G" "" "{PMID:Pulkkinen 2001:11702217}" "" "" "variant co-amplified from ABCC6P1 (scored as heterozygous)" "Artefact" "-" "" "0" "" "" "g.16202036A>G" "" "NA" "" "0000163461" "0" "50" "16" "16315534" "16315534" "subst" "0" "00006" "ABCC6_000415" "g.16315534C>T" "" "{PMID:Pulkkinen 2001:11702217}" "" "" "variant co-amplified from ABCC6P1 (scored as heterozygous)" "Artefact" "-" "" "0" "" "" "g.16221677C>T" "" "NA" "" "0000163462" "0" "50" "16" "16315529" "16315529" "dup" "0" "00006" "ABCC6_000416" "g.16315529dupA" "" "{PMID:Pulkkinen 2001:11702217}" "" "196insT" "variant co-amplified from ABCC6P1 (scored as heterozygous)\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Artefact" "-" "" "0" "" "" "g.16221672dupA" "" "NA" "" "0000163463" "0" "30" "16" "16302586" "16302586" "subst" "0.042575" "00006" "ABCC6_000015" "g.16302586T>C" "0.086" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "Germline" "-" "" "0" "" "" "g.16208729T>C" "" "likely benign" "" "0000163464" "0" "30" "16" "16313545" "16313545" "subst" "0.0248278" "00006" "ABCC6_000223" "g.16313545C>T" "" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "Germline" "-" "" "0" "" "" "g.16219688C>T" "" "likely benign" "" "0000163465" "0" "30" "16" "16313792" "16313792" "subst" "0.000508808" "00006" "ABCC6_000408" "g.16313792C>T" "" "{PMID:Pulkkinen 2001:11702217}" "" "" "" "Germline" "-" "" "0" "" "" "g.16219935C>T" "" "likely benign" "" "0000163466" "0" "30" "16" "16317418" "16317418" "subst" "0" "00006" "ABCC6_000417" "g.16317418G>A" "0.143" "{PMID:Pulkkinen 2001:11702217}" "" "1-127C>T" "" "Germline" "-" "" "0" "" "" "g.16223561G>A" "" "likely benign" "" "0000163467" "0" "30" "16" "16317423" "16317423" "subst" "0" "00006" "ABCC6_000418" "g.16317423G>A" "0.047" "{PMID:Pulkkinen 2001:11702217}" "" "1-132C>T" "" "Germline" "" "" "0" "" "" "g.16223566G>A" "" "likely benign" "" "0000163468" "0" "30" "16" "16317510" "16317510" "subst" "0" "00006" "ABCC6_000419" "g.16317510T>G" "0.050" "{PMID:Pulkkinen 2001:11702217}" "" "1-219A>C" "" "Germline" "-" "" "0" "" "" "g.16223653T>G" "" "likely benign" "" "0000247420" "0" "50" "16" "16256895" "16256895" "subst" "1.21843E-5" "02330" "ABCC6_000440" "g.16256895A>G" "" "" "" "ABCC6(NM_001171.6):c.3461T>C (p.V1154A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16163038A>G" "" "VUS" "" "0000248680" "0" "10" "16" "16291983" "16291983" "subst" "0.309314" "02325" "ABCC6_000460" "g.16291983A>G" "" "" "" "ABCC6(NM_001171.6):c.1233T>C (p.N411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16198126A>G" "" "benign" "" "0000255999" "0" "50" "16" "16248782" "16248782" "subst" "1.31009E-5" "01943" "ABCC6_000435" "g.16248782A>G" "" "" "" "ABCC6(NM_001171.5):c.3989T>C (p.I1330T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16154925A>G" "" "VUS" "" "0000256980" "0" "10" "16" "16291968" "16291968" "subst" "0.0022537" "02330" "ABCC6_000459" "g.16291968G>A" "" "" "" "ABCC6(NM_001171.5):c.1248C>T (p.D416=), ABCC6(NM_001171.6):c.1248C>T (p.D416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16198111G>A" "" "benign" "" "0000256981" "0" "10" "16" "16281033" "16281033" "subst" "0.00154417" "02330" "ABCC6_000455" "g.16281033G>A" "" "" "" "ABCC6(NM_001171.6):c.1815C>T (p.L605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16187176G>A" "" "benign" "" "0000256982" "0" "30" "16" "16280995" "16280995" "subst" "4.48562E-5" "02330" "ABCC6_000454" "g.16280995C>T" "" "" "" "ABCC6(NM_001171.6):c.1853G>A (p.S618N), ABCC6(NM_001351800.1):c.1511G>A (p.S504N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16187138C>T" "" "likely benign" "" "0000256983" "0" "10" "16" "16278806" "16278806" "subst" "0.000564568" "02330" "ABCC6_000453" "g.16278806C>G" "" "" "" "ABCC6(NM_001171.6):c.1943+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16184949C>G" "" "benign" "" "0000256984" "0" "50" "16" "16276768" "16276768" "subst" "2.87125E-5" "02330" "ABCC6_000452" "g.16276768G>T" "" "" "" "ABCC6(NM_001171.5):c.1963C>A (p.Q655K), ABCC6(NM_001171.6):c.1963C>A (p.Q655K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16182911G>T" "" "VUS" "" "0000256985" "0" "50" "16" "16276391" "16276391" "subst" "8.9343E-5" "02330" "ABCC6_000450" "g.16276391C>T" "" "" "" "ABCC6(NM_001171.6):c.2125G>A (p.E709K, p.(Glu709Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16182534C>T" "" "VUS" "" "0000256986" "0" "10" "16" "16272841" "16272841" "subst" "0.000333575" "02330" "ABCC6_000449" "g.16272841C>G" "" "" "" "ABCC6(NM_001171.6):c.2248-19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16178984C>G" "" "benign" "" "0000256987" "0" "10" "16" "16267221" "16267221" "subst" "0.00177872" "02330" "ABCC6_000447" "g.16267221C>G" "" "" "" "ABCC6(NM_001171.5):c.2707G>C (p.E903Q), ABCC6(NM_001171.6):c.2707G>C (p.E903Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16173364C>G" "" "benign" "" "0000256988" "0" "10" "16" "16263594" "16263594" "subst" "0.00111384" "02330" "ABCC6_000117" "g.16263594C>T" "" "" "" "ABCC6(NM_001171.5):c.2904G>A (p.L968=), ABCC6(NM_001171.6):c.2904G>A (p.L968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16169737C>T" "" "benign" "" "0000256989" "0" "10" "16" "16259497" "16259497" "subst" "0.00266111" "02330" "ABCC6_000443" "g.16259497G>T" "" "" "" "ABCC6(NM_001171.5):c.3289C>A (p.(Leu1097Ile)), ABCC6(NM_001171.6):c.3289C>A (p.L1097I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16165640G>T" "" "benign" "" "0000256990" "0" "90" "16" "16256935" "16256935" "subst" "0.00137701" "02330" "ABCC6_000142" "g.16256935G>A" "" "" "" "ABCC6(NM_001171.5):c.3421C>T (p.R1141*, p.(Arg1141*)), ABCC6(NM_001351800.1):c.3079C>T (p.R1027*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000256991" "0" "10" "16" "16256897" "16256897" "subst" "0.00101941" "02330" "ABCC6_000441" "g.16256897G>A" "" "" "" "ABCC6(NM_001171.6):c.3459C>T (p.R1153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16163040G>A" "" "benign" "" "0000256992" "0" "10" "16" "16251647" "16251647" "subst" "4.50883E-5" "02330" "ABCC6_000439" "g.16251647G>A" "" "" "" "ABCC6(NM_001171.6):c.3755C>T (p.T1252I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16157790G>A" "" "benign" "" "0000256993" "0" "10" "16" "16251599" "16251599" "subst" "0.250967" "02330" "ABCC6_000164" "g.16251599C>T" "" "" "" "ABCC6(NM_001171.6):c.3803G>A (p.R1268Q, p.(Arg1268Gln)), ABCC6(NM_001351800.1):c.3461G>A (p.R1154Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16157742C>T" "" "benign" "" "0000256994" "0" "10" "16" "16251550" "16251550" "subst" "0.000520173" "02330" "ABCC6_000438" "g.16251550G>A" "" "" "" "ABCC6(NM_001171.6):c.3852C>T (p.G1284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16157693G>A" "" "benign" "" "0000256995" "0" "10" "16" "16248834" "16248834" "subst" "0" "02330" "ABCC6_000437" "g.16248834G>A" "" "" "" "ABCC6(NM_001171.6):c.3937C>T (p.L1313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16154977G>A" "" "benign" "" "0000256996" "0" "10" "16" "16248793" "16248793" "subst" "0.000198389" "02330" "ABCC6_000183" "g.16248793G>A" "" "" "" "ABCC6(NM_001171.6):c.3978C>T (p.D1326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16154936G>A" "" "benign" "" "0000256997" "0" "10" "16" "16315686" "16315686" "subst" "5.52862E-5" "02330" "ABCC6_000465" "g.16315686G>A" "" "" "" "ABCC6(NM_001171.6):c.39C>T (p.V13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16221829G>A" "" "benign" "" "0000256998" "0" "50" "16" "16248588" "16248588" "subst" "0.000209257" "02330" "ABCC6_000433" "g.16248588C>T" "" "" "" "ABCC6(NM_001171.5):c.4105G>A (p.(Glu1369Lys)), ABCC6(NM_001171.6):c.4105G>A (p.E1369K), ABCC6(NM_001351800.1):c.3763G>A (p.E1255K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16154731C>T" "" "VUS" "" "0000256999" "0" "10" "16" "16306030" "16306030" "subst" "0.0164394" "02330" "ABCC6_000226" "g.16306030G>A" "" "" "" "ABCC6(NM_001171.6):c.662+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16212173G>A" "" "benign" "" "0000257000" "0" "50" "16" "16302637" "16302637" "subst" "0.000792999" "02330" "ABCC6_000013" "g.16302637G>A" "" "" "" "ABCC6(NM_001171.5):c.742C>T (p.L248F, p.(Leu248Phe)), ABCC6(NM_001171.6):c.742C>T (p.L248F), ABCC6(NM_001351800.1):c.400C>T (p.L134F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16208780G>A" "" "VUS" "" "0000257001" "0" "30" "16" "16297436" "16297436" "subst" "2.44021E-5" "02330" "ABCC6_000462" "g.16297436C>T" "" "" "" "ABCC6(NM_001171.6):c.829G>A (p.G277S), ABCC6(NM_001351800.1):c.487G>A (p.G163S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16203579C>T" "" "likely benign" "" "0000257002" "0" "30" "16" "16297310" "16297310" "subst" "0.00122248" "02330" "ABCC6_000022" "g.16297310T>C" "" "" "" "ABCC6(NM_001171.5):c.955A>G (p.I319V), ABCC6(NM_001171.6):c.955A>G (p.I319V), ABCC6(NM_001351800.1):c.613A>G (p.I205V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16203453T>C" "" "likely benign" "" "0000258702" "0" "10" "16" "16251599" "16251599" "subst" "0.250967" "02325" "ABCC6_000164" "g.16251599C>T" "" "" "" "ABCC6(NM_001171.6):c.3803G>A (p.R1268Q, p.(Arg1268Gln)), ABCC6(NM_001351800.1):c.3461G>A (p.R1154Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16157742C>T" "" "benign" "" "0000258847" "0" "10" "16" "16291858" "16291858" "subst" "0.778896" "02325" "ABCC6_000233" "g.16291858G>C" "" "" "" "ABCC6(NM_001171.6):c.1338+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16198001G>C" "" "benign" "" "0000258848" "0" "10" "16" "16291871" "16291871" "subst" "0.800003" "02325" "ABCC6_000232" "g.16291871G>C" "" "" "" "ABCC6(NM_001171.6):c.1338+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16198014G>C" "" "benign" "" "0000258849" "0" "10" "16" "16272670" "16272670" "subst" "0.99251" "02325" "ABCC6_000090" "g.16272670T>C" "" "" "" "ABCC6(NM_001171.6):c.2400A>G (p.G800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16178813T>C" "" "benign" "" "0000258850" "0" "10" "16" "16271357" "16271357" "subst" "0.992256" "02325" "ABCC6_000100" "g.16271357T>C" "" "" "" "ABCC6(NM_001171.6):c.2542A>G (p.M848V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16177500T>C" "" "benign" "" "0000258851" "0" "10" "16" "16255424" "16255424" "subst" "0.0165402" "02325" "ABCC6_000310" "g.16255424G>A" "" "" "" "ABCC6(NM_001171.5):c.3507-3C>T (p.?), ABCC6(NM_001171.6):c.3507-3C>T, ABCC6(NM_001351800.1):c.3165-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16161567G>A" "" "benign" "" "0000258852" "0" "10" "16" "16302586" "16302586" "subst" "0.042575" "02325" "ABCC6_000015" "g.16302586T>C" "" "" "" "ABCC6(NM_001171.6):c.793A>G (p.R265G), ABCC6(NM_001351800.1):c.451A>G (p.R151G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16208729T>C" "" "benign" "" "0000259363" "0" "30" "16" "16291932" "16291932" "subst" "0.00238568" "02325" "ABCC6_000458" "g.16291932G>A" "" "" "" "ABCC6(NM_001171.6):c.1284C>T (p.N428=), ABCC6(NM_001351800.1):c.942C>T (p.N314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16198075G>A" "" "likely benign" "" "0000259364" "0" "30" "16" "16284116" "16284116" "subst" "0.00105218" "02325" "ABCC6_000046" "g.16284116C>T" "" "" "" "ABCC6(NM_001171.6):c.1540G>A (p.V514I), ABCC6(NM_001351800.1):c.1198G>A (p.V400I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16190259C>T" "" "likely benign" "" "0000261653" "0" "30" "16" "16315608" "16315608" "subst" "0.000160401" "01943" "ABCC6_000464" "g.16315608T>C" "" "" "" "ABCC6(NM_001171.5):c.117A>G (p.V39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16221751T>C" "" "likely benign" "" "0000261654" "0" "30" "16" "16291968" "16291968" "subst" "0.0022537" "01943" "ABCC6_000459" "g.16291968G>A" "" "" "" "ABCC6(NM_001171.5):c.1248C>T (p.D416=), ABCC6(NM_001171.6):c.1248C>T (p.D416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16198111G>A" "" "likely benign" "" "0000261655" "0" "30" "16" "16291932" "16291932" "subst" "0.00238568" "01943" "ABCC6_000458" "g.16291932G>A" "" "" "" "ABCC6(NM_001171.6):c.1284C>T (p.N428=), ABCC6(NM_001351800.1):c.942C>T (p.N314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16198075G>A" "" "likely benign" "" "0000261656" "0" "50" "16" "16284071" "16284071" "subst" "4.06352E-5" "01943" "ABCC6_000457" "g.16284071C>T" "" "" "" "ABCC6(NM_001171.5):c.1585G>A (p.G529S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16190214C>T" "" "VUS" "" "0000261657" "0" "90" "16" "16276788" "16276788" "subst" "0" "01943" "ABCC6_000371" "g.16276788C>G" "" "" "" "ABCC6(NM_001171.5):c.1944-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16182931C>G" "" "pathogenic" "" "0000261658" "0" "50" "16" "16276768" "16276768" "subst" "2.87125E-5" "01943" "ABCC6_000452" "g.16276768G>T" "" "" "" "ABCC6(NM_001171.5):c.1963C>A (p.Q655K), ABCC6(NM_001171.6):c.1963C>A (p.Q655K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16182911G>T" "" "VUS" "" "0000261659" "0" "10" "16" "16276664" "16276664" "subst" "0.00171493" "01943" "ABCC6_000451" "g.16276664G>A" "" "" "" "ABCC6(NM_001171.5):c.2067C>T (p.I689=), ABCC6(NM_001171.6):c.2067C>T (p.I689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16182807G>A" "" "benign" "" "0000261660" "0" "50" "16" "16272736" "16272736" "subst" "0" "01943" "ABCC6_000448" "g.16272736G>T" "" "" "" "ABCC6(NM_001171.5):c.2334C>A (p.D778E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16178879G>T" "" "VUS" "" "0000261661" "0" "10" "16" "16267221" "16267221" "subst" "0.00177872" "01943" "ABCC6_000447" "g.16267221C>G" "" "" "" "ABCC6(NM_001171.5):c.2707G>C (p.E903Q), ABCC6(NM_001171.6):c.2707G>C (p.E903Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16173364C>G" "" "benign" "" "0000261662" "0" "50" "16" "16263679" "16263679" "subst" "1.25687E-5" "01943" "ABCC6_000446" "g.16263679C>T" "" "" "" "ABCC6(NM_001171.5):c.2819G>A (p.R940H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16169822C>T" "" "VUS" "" "0000261663" "0" "30" "16" "16263594" "16263594" "subst" "0.00111384" "01943" "ABCC6_000117" "g.16263594C>T" "" "" "" "ABCC6(NM_001171.5):c.2904G>A (p.L968=), ABCC6(NM_001171.6):c.2904G>A (p.L968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16169737C>T" "" "likely benign" "" "0000261664" "0" "10" "16" "16259596" "16259596" "subst" "0.0209464" "01943" "ABCC6_000124" "g.16259596G>A" "" "" "" "ABCC6(NM_001171.5):c.3190C>T (p.R1064W), ABCC6(NM_001351800.1):c.2848C>T (p.R950W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16165739G>A" "" "benign" "" "0000261665" "0" "30" "16" "16259579" "16259579" "subst" "0.00461281" "01943" "ABCC6_000444" "g.16259579G>A" "" "" "" "ABCC6(NM_001171.5):c.3207C>T (p.Y1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16165722G>A" "" "likely benign" "" "0000261666" "0" "30" "16" "16257044" "16257044" "subst" "0" "01943" "ABCC6_000442" "g.16257044C>G" "" "" "" "ABCC6(NM_001171.5):c.3312G>C (p.L1104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16163187C>G" "" "likely benign" "" "0000261667" "0" "50" "16" "16248792" "16248792" "subst" "0.000137685" "01943" "ABCC6_000436" "g.16248792C>T" "" "" "" "ABCC6(NM_001171.5):c.3979G>A (p.G1327R, p.(Gly1327Arg)), ABCC6(NM_001351800.1):c.3637G>A (p.G1213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16154935C>T" "" "VUS" "" "0000261668" "0" "30" "16" "16248476" "16248476" "subst" "0.0152659" "01943" "ABCC6_000329" "g.16248476C>T" "" "" "" "ABCC6(NM_001171.5):c.4208+9G>A, ABCC6(NM_001171.6):c.4208+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16154619C>T" "" "likely benign" "" "0000261669" "0" "30" "16" "16244584" "16244584" "subst" "0.00708433" "01943" "ABCC6_000206" "g.16244584C>T" "" "" "" "ABCC6(NM_001171.5):c.4254G>A (p.R1418=), ABCC6(NM_001171.6):c.4254G>A (p.R1418=, p.(Arg1418=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16150727C>T" "" "likely benign" "" "0000261670" "0" "30" "16" "16308274" "16308274" "subst" "2.71558E-5" "01943" "ABCC6_000463" "g.16308274G>A" "" "" "" "ABCC6(NM_001171.5):c.507C>T (p.S169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16214417G>A" "" "likely benign" "" "0000261671" "0" "30" "16" "16297310" "16297310" "subst" "0.00122248" "01943" "ABCC6_000022" "g.16297310T>C" "" "" "" "ABCC6(NM_001171.5):c.955A>G (p.I319V), ABCC6(NM_001171.6):c.955A>G (p.I319V), ABCC6(NM_001351800.1):c.613A>G (p.I205V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16203453T>C" "" "likely benign" "" "0000324634" "0" "50" "16" "16248495" "16248495" "subst" "3.69722E-5" "01804" "ABCC6_000202" "g.16248495C>T" "" "" "" "ABCC6(NM_001171.5):c.4198G>A (p.(Glu1400Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16154638C>T" "" "VUS" "" "0000324635" "0" "50" "16" "16248511" "16248511" "del" "5.31889E-5" "01804" "ABCC6_000432" "g.16248511del" "" "" "" "ABCC6(NM_001171.5):c.4182del (p.(Lys1394AsnfsTer9)), ABCC6(NM_001351800.1):c.3840delG (p.K1280Nfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16154654del" "" "VUS" "" "0000324636" "0" "50" "16" "16248588" "16248588" "subst" "0.000209257" "01804" "ABCC6_000433" "g.16248588C>T" "" "" "" "ABCC6(NM_001171.5):c.4105G>A (p.(Glu1369Lys)), ABCC6(NM_001171.6):c.4105G>A (p.E1369K), ABCC6(NM_001351800.1):c.3763G>A (p.E1255K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16154731C>T" "" "VUS" "" "0000324643" "0" "30" "16" "16302637" "16302637" "subst" "0.000792999" "01804" "ABCC6_000013" "g.16302637G>A" "" "" "" "ABCC6(NM_001171.5):c.742C>T (p.L248F, p.(Leu248Phe)), ABCC6(NM_001171.6):c.742C>T (p.L248F), ABCC6(NM_001351800.1):c.400C>T (p.L134F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16208780G>A" "" "likely benign" "" "0000339009" "0" "70" "16" "16244462" "16244462" "subst" "2.88063E-5" "02327" "ABCC6_000431" "g.16244462C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16150605C>T" "" "likely pathogenic" "" "0000339123" "0" "90" "16" "16248511" "16248511" "del" "5.31889E-5" "02327" "ABCC6_000432" "g.16248511del" "" "" "" "ABCC6(NM_001171.5):c.4182del (p.(Lys1394AsnfsTer9)), ABCC6(NM_001351800.1):c.3840delG (p.K1280Nfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16154654del" "" "pathogenic" "" "0000341751" "0" "90" "16" "16256935" "16256935" "subst" "0.00137701" "02327" "ABCC6_000142" "g.16256935G>A" "" "" "" "ABCC6(NM_001171.5):c.3421C>T (p.R1141*, p.(Arg1141*)), ABCC6(NM_001351800.1):c.3079C>T (p.R1027*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000347028" "0" "50" "16" "16302637" "16302637" "subst" "0.000792999" "02327" "ABCC6_000013" "g.16302637G>A" "" "" "" "ABCC6(NM_001171.5):c.742C>T (p.L248F, p.(Leu248Phe)), ABCC6(NM_001171.6):c.742C>T (p.L248F), ABCC6(NM_001351800.1):c.400C>T (p.L134F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16208780G>A" "" "VUS" "" "0000347117" "0" "70" "16" "16295970" "16295970" "subst" "4.0662E-6" "02327" "ABCC6_000024" "g.16295970A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16202113A>C" "" "likely pathogenic" "" "0000499857" "0" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01164" "ABCC6_000142" "g.16256935G>A" "" "" "" "" "ACMG grading: PS3, PP1, PVS1; segregates with disease (pseudoxanthoma elasticum) in several members of two families, autosomal recessive inheritance; mild symptoms in heterozygous carriers (maybe only with truncating variants) possible Bergen (2000) Nat Genet 25: 228: autosomal dominant inheritance reported" "Germline" "" "rs72653706" "0" "" "" "g.16163078G>A" "" "pathogenic (recessive)" "ACMG" "0000556898" "0" "10" "16" "16243973" "16243973" "subst" "0.0665227" "02330" "ABCC6_000218" "g.16243973C>T" "" "" "" "ABCC6(NM_001171.6):c.*17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16150116C>T" "" "benign" "" "0000556899" "0" "90" "16" "16244010" "16244010" "subst" "0" "01943" "ABCC6_000466" "g.16244010G>A" "" "" "" "ABCC6(NM_001171.5):c.4492C>T (p.Q1498*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16150153G>A" "" "pathogenic" "" "0000556900" "0" "10" "16" "16244419" "16244419" "subst" "0" "02330" "ABCC6_000467" "g.16244419G>A" "" "" "" "ABCC6(NM_001171.6):c.4403+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16150562G>A" "" "benign" "" "0000556901" "0" "10" "16" "16244584" "16244584" "subst" "0.00708433" "02330" "ABCC6_000206" "g.16244584C>T" "" "" "" "ABCC6(NM_001171.5):c.4254G>A (p.R1418=), ABCC6(NM_001171.6):c.4254G>A (p.R1418=, p.(Arg1418=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16150727C>T" "" "benign" "" "0000556902" "0" "10" "16" "16248476" "16248476" "subst" "0.0152659" "02330" "ABCC6_000329" "g.16248476C>T" "" "" "" "ABCC6(NM_001171.5):c.4208+9G>A, ABCC6(NM_001171.6):c.4208+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154619C>T" "" "benign" "" "0000556903" "0" "30" "16" "16248500" "16248500" "subst" "0.000102546" "02330" "ABCC6_000468" "g.16248500C>T" "" "" "" "ABCC6(NM_001171.6):c.4193G>A (p.R1398Q), ABCC6(NM_001351800.1):c.3851G>A (p.R1284Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154643C>T" "" "likely benign" "" "0000556904" "0" "30" "16" "16248592" "16248592" "subst" "0.000701919" "01943" "ABCC6_000469" "g.16248592C>T" "" "" "" "ABCC6(NM_001171.5):c.4101G>A (p.S1367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154735C>T" "" "likely benign" "" "0000556905" "0" "10" "16" "16248658" "16248658" "subst" "8.51948E-6" "02330" "ABCC6_000434" "g.16248658G>A" "" "" "" "ABCC6(NM_001171.6):c.4042-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154801G>A" "" "benign" "" "0000556906" "0" "30" "16" "16248760" "16248760" "subst" "2.94048E-5" "01943" "ABCC6_000470" "g.16248760T>C" "" "" "" "ABCC6(NM_001171.5):c.4011A>G (p.T1337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154903T>C" "" "likely benign" "" "0000556907" "0" "30" "16" "16248791" "16248791" "subst" "0.0011343" "01804" "ABCC6_000471" "g.16248791C>T" "" "" "" "ABCC6(NM_001171.5):c.3980G>A (p.(Gly1327Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154934C>T" "" "likely benign" "" "0000556908" "0" "50" "16" "16248867" "16248867" "subst" "5.03512E-5" "02327" "ABCC6_000174" "g.16248867C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16155010C>T" "" "VUS" "" "0000556909" "0" "30" "16" "16248868" "16248868" "subst" "0.000202209" "01943" "ABCC6_000472" "g.16248868G>A" "" "" "" "ABCC6(NM_001171.5):c.3903C>T (p.T1301=), ABCC6(NM_001351800.1):c.3561C>T (p.T1187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16155011G>A" "" "likely benign" "" "0000556910" "0" "30" "16" "16248895" "16248895" "subst" "0.00103601" "01804" "ABCC6_000473" "g.16248895G>A" "" "" "" "ABCC6(NM_001171.5):c.3883-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16155038G>A" "" "likely benign" "" "0000556911" "0" "10" "16" "16251531" "16251531" "subst" "0.00672121" "02330" "ABCC6_000168" "g.16251531C>T" "" "" "" "ABCC6(NM_001171.6):c.3871G>A (p.A1291T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16157674C>T" "" "benign" "" "0000556913" "0" "30" "16" "16251580" "16251580" "subst" "2.03207E-5" "01943" "ABCC6_000474" "g.16251580G>A" "" "" "" "ABCC6(NM_001171.5):c.3822C>T (p.Y1274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16157723G>A" "" "likely benign" "" "0000556914" "0" "50" "16" "16251632" "16251632" "subst" "5.30864E-5" "02330" "ABCC6_000475" "g.16251632G>T" "" "" "" "ABCC6(NM_001171.6):c.3770C>A (p.P1257H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16157775G>T" "" "VUS" "" "0000556915" "0" "70" "16" "16251667" "16251667" "subst" "4.55977E-5" "01943" "ABCC6_000346" "g.16251667C>T" "" "" "" "ABCC6(NM_001171.5):c.3736-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16157810C>T" "" "likely pathogenic" "" "0000556916" "0" "50" "16" "16255371" "16255371" "subst" "2.84671E-5" "01943" "ABCC6_000476" "g.16255371G>T" "" "" "" "ABCC6(NM_001171.5):c.3557C>A (p.A1186D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16161514G>T" "" "VUS" "" "0000556917" "0" "30" "16" "16255424" "16255424" "subst" "0.0165402" "01804" "ABCC6_000310" "g.16255424G>A" "" "" "" "ABCC6(NM_001171.5):c.3507-3C>T (p.?), ABCC6(NM_001171.6):c.3507-3C>T, ABCC6(NM_001351800.1):c.3165-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16161567G>A" "" "likely benign" "" "0000556918" "0" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01943" "ABCC6_000142" "g.16256935G>A" "" "" "" "ABCC6(NM_001171.5):c.3421C>T (p.R1141*, p.(Arg1141*)), ABCC6(NM_001351800.1):c.3079C>T (p.R1027*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16163078G>A" "" "pathogenic" "" "0000556919" "0" "30" "16" "16259497" "16259497" "subst" "0.00266111" "01804" "ABCC6_000443" "g.16259497G>T" "" "" "" "ABCC6(NM_001171.5):c.3289C>A (p.(Leu1097Ile)), ABCC6(NM_001171.6):c.3289C>A (p.L1097I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16165640G>T" "" "likely benign" "" "0000556921" "0" "30" "16" "16259618" "16259618" "subst" "0.000113762" "01943" "ABCC6_000477" "g.16259618G>A" "" "" "" "ABCC6(NM_001171.5):c.3168C>T (p.D1056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16165761G>A" "" "likely benign" "" "0000556922" "0" "50" "16" "16259641" "16259641" "subst" "4.87555E-5" "01943" "ABCC6_000121" "g.16259641A>C" "" "" "" "ABCC6(NM_001171.5):c.3145T>G (p.S1049A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16165784A>C" "" "VUS" "" "0000556924" "0" "30" "16" "16259762" "16259762" "subst" "0.000122934" "02330" "ABCC6_000479" "g.16259762C>T" "" "" "" "ABCC6(NM_001171.5):c.3024G>A (p.A1008=), ABCC6(NM_001171.6):c.3024G>A (p.A1008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16165905C>T" "" "likely benign" "" "0000556925" "0" "30" "16" "16263499" "16263499" "subst" "2.9272E-5" "01943" "ABCC6_000480" "g.16263499G>A" "" "" "" "ABCC6(NM_001171.5):c.2995+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16169642G>A" "" "likely benign" "" "0000556926" "0" "30" "16" "16263662" "16263662" "subst" "0.0164859" "01804" "ABCC6_000111" "g.16263662G>T" "" "" "" "ABCC6(NM_001171.5):c.2836C>A (p.(Leu946Ile)), ABCC6(NM_001171.6):c.2836C>A (p.L946I), ABCC6(NM_001351800.1):c.2494C>A (p.L832I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16169805G>T" "" "likely benign" "" "0000556927" "0" "10" "16" "16263662" "16263662" "subst" "0.0164859" "02325" "ABCC6_000111" "g.16263662G>T" "" "" "" "ABCC6(NM_001171.5):c.2836C>A (p.(Leu946Ile)), ABCC6(NM_001171.6):c.2836C>A (p.L946I), ABCC6(NM_001351800.1):c.2494C>A (p.L832I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16169805G>T" "" "benign" "" "0000556928" "0" "10" "16" "16263663" "16263663" "subst" "0.0856229" "02330" "ABCC6_000110" "g.16263663G>A" "" "" "" "ABCC6(NM_001171.6):c.2835C>T (p.P945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16169806G>A" "" "benign" "" "0000556929" "0" "10" "16" "16267147" "16267147" "subst" "0.000597294" "02330" "ABCC6_000481" "g.16267147G>A" "" "" "" "ABCC6(NM_001171.5):c.2781C>T (p.Y927=), ABCC6(NM_001171.6):c.2781C>T (p.Y927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16173290G>A" "" "benign" "" "0000556930" "0" "30" "16" "16267147" "16267147" "subst" "0.000597294" "01943" "ABCC6_000481" "g.16267147G>A" "" "" "" "ABCC6(NM_001171.5):c.2781C>T (p.Y927=), ABCC6(NM_001171.6):c.2781C>T (p.Y927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16173290G>A" "" "likely benign" "" "0000556931" "0" "50" "16" "16267233" "16267233" "subst" "0.000300508" "01943" "ABCC6_000482" "g.16267233G>A" "" "" "" "ABCC6(NM_001351800.1):c.2353C>T (p.R785C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16173376G>A" "" "VUS" "" "0000556932" "0" "90" "16" "16269775" "16269775" "subst" "0.000227642" "01804" "ABCC6_000483" "g.16269775G>A" "" "" "" "ABCC6(NM_001171.5):c.2659C>T (p.(Arg887Cys)), ABCC6(NM_001171.6):c.2659C>T (p.R887C), ABCC6(NM_001351800.1):c.2317C>T (p.R773C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16175918G>A" "" "pathogenic" "" "0000556933" "0" "10" "16" "16271409" "16271409" "subst" "0.139169" "02330" "ABCC6_000097" "g.16271409G>A" "" "" "" "ABCC6(NM_001171.6):c.2490C>T (p.A830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16177552G>A" "" "benign" "" "0000556934" "0" "70" "16" "16272711" "16272711" "subst" "0.000614746" "01943" "ABCC6_000484" "g.16272711C>T" "" "" "" "ABCC6(NM_001171.5):c.2359G>A (p.V787I, p.(Val787Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16178854C>T" "" "likely pathogenic" "" "0000556935" "0" "90" "16" "16272764" "16272764" "subst" "0.000183019" "01804" "ABCC6_000485" "g.16272764C>T" "" "" "" "ABCC6(NM_001171.5):c.2306G>A (p.(Arg769Lys)), ABCC6(NM_001351800.1):c.1964G>A (p.R655K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16178907C>T" "" "pathogenic" "" "0000556936" "0" "10" "16" "16276292" "16276292" "subst" "0.0163564" "02330" "ABCC6_000078" "g.16276292T>C" "" "" "" "ABCC6(NM_001171.5):c.2224A>G (p.(Ile742Val)), ABCC6(NM_001171.6):c.2224A>G (p.I742V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182435T>C" "" "benign" "" "0000556937" "0" "30" "16" "16276292" "16276292" "subst" "0.0163564" "01804" "ABCC6_000078" "g.16276292T>C" "" "" "" "ABCC6(NM_001171.5):c.2224A>G (p.(Ile742Val)), ABCC6(NM_001171.6):c.2224A>G (p.I742V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182435T>C" "" "likely benign" "" "0000556938" "0" "10" "16" "16276341" "16276341" "subst" "0.0163287" "02330" "ABCC6_000076" "g.16276341T>A" "" "" "" "ABCC6(NM_001171.6):c.2175A>T (p.V725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182484T>A" "" "benign" "" "0000556939" "0" "10" "16" "16276345" "16276345" "subst" "0.0137667" "02330" "ABCC6_000075" "g.16276345C>T" "" "" "" "ABCC6(NM_001171.5):c.2171G>A (p.(Arg724Lys)), ABCC6(NM_001171.6):c.2171G>A (p.R724K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182488C>T" "" "benign" "" "0000556940" "0" "30" "16" "16276345" "16276345" "subst" "0.0137667" "01804" "ABCC6_000075" "g.16276345C>T" "" "" "" "ABCC6(NM_001171.5):c.2171G>A (p.(Arg724Lys)), ABCC6(NM_001171.6):c.2171G>A (p.R724K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182488C>T" "" "likely benign" "" "0000556941" "0" "30" "16" "16276376" "16276376" "subst" "4.87329E-5" "01804" "ABCC6_000486" "g.16276376C>T" "" "" "" "ABCC6(NM_001171.5):c.2140G>A (p.(Gly714Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182519C>T" "" "likely benign" "" "0000556942" "0" "50" "16" "16276385" "16276385" "subst" "7.30964E-5" "01943" "ABCC6_000487" "g.16276385C>T" "" "" "" "ABCC6(NM_001171.5):c.2131G>A (p.V711M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182528C>T" "" "VUS" "" "0000556943" "0" "50" "16" "16276419" "16276419" "del" "0" "01804" "ABCC6_000488" "g.16276419del" "" "" "" "ABCC6(NM_001171.5):c.2098del (p.(Ala700ProfsTer9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182562del" "" "VUS" "" "0000556944" "0" "10" "16" "16276664" "16276664" "subst" "0.00171493" "02330" "ABCC6_000451" "g.16276664G>A" "" "" "" "ABCC6(NM_001171.5):c.2067C>T (p.I689=), ABCC6(NM_001171.6):c.2067C>T (p.I689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182807G>A" "" "benign" "" "0000556945" "0" "10" "16" "16278863" "16278863" "subst" "0.419265" "02330" "ABCC6_000060" "g.16278863G>T" "" "" "" "ABCC6(NM_001171.6):c.1896C>A (p.H632Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16185006G>T" "" "benign" "" "0000556946" "0" "10" "16" "16278869" "16278869" "subst" "0.41901" "02330" "ABCC6_000059" "g.16278869G>C" "" "" "" "ABCC6(NM_001171.6):c.1890C>G (p.T630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16185012G>C" "" "benign" "" "0000556947" "0" "10" "16" "16281007" "16281007" "subst" "0.425009" "02330" "ABCC6_000057" "g.16281007A>G" "" "" "" "ABCC6(NM_001171.6):c.1841T>C (p.V614A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16187150A>G" "" "benign" "" "0000556948" "0" "30" "16" "16282693" "16282693" "subst" "4.49997E-5" "01804" "ABCC6_000489" "g.16282693C>T" "" "" "" "ABCC6(NM_001171.5):c.1774G>A (p.(Val592Ile)), ABCC6(NM_001351800.1):c.1432G>A (p.V478I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16188836C>T" "" "likely benign" "" "0000556949" "0" "50" "16" "16284067" "16284069" "del" "0" "02330" "ABCC6_000490" "g.16284067_16284069del" "" "" "" "ABCC6(NM_001171.6):c.1591_1593delCTC (p.L531del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16190210_16190212del" "" "VUS" "" "0000556950" "0" "30" "16" "16286694" "16286694" "subst" "0.000248" "01943" "ABCC6_000491" "g.16286694T>A" "" "" "" "ABCC6(NM_001171.5):c.1424A>T (p.H475L), ABCC6(NM_001171.6):c.1424A>T (p.(His475Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16192837T>A" "" "likely benign" "" "0000556951" "0" "10" "16" "16291858" "16291858" "subst" "0.778896" "02330" "ABCC6_000233" "g.16291858G>C" "" "" "" "ABCC6(NM_001171.6):c.1338+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16198001G>C" "" "benign" "" "0000556952" "0" "10" "16" "16291871" "16291871" "subst" "0.800003" "02330" "ABCC6_000232" "g.16291871G>C" "" "" "" "ABCC6(NM_001171.6):c.1338+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16198014G>C" "" "benign" "" "0000556953" "0" "10" "16" "16291932" "16291932" "subst" "0.00238568" "02330" "ABCC6_000458" "g.16291932G>A" "" "" "" "ABCC6(NM_001171.6):c.1284C>T (p.N428=), ABCC6(NM_001351800.1):c.942C>T (p.N314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16198075G>A" "" "benign" "" "0000556954" "0" "50" "16" "16291933" "16291933" "subst" "9.80272E-5" "01804" "ABCC6_000492" "g.16291933T>C" "" "" "" "ABCC6(NM_001171.5):c.1283A>G (p.(Asn428Ser)), ABCC6(NM_001351800.1):c.941A>G (p.N314S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16198076T>C" "" "VUS" "" "0000556955" "0" "10" "16" "16291953" "16291953" "subst" "0.00167809" "02330" "ABCC6_000493" "g.16291953G>A" "" "" "" "ABCC6(NM_001171.6):c.1263C>T (p.T421=), ABCC6(NM_001351800.1):c.921C>T (p.T307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16198096G>A" "" "benign" "" "0000556956" "0" "10" "16" "16291971" "16291971" "subst" "0.286076" "02330" "ABCC6_000038" "g.16291971C>T" "" "" "" "ABCC6(NM_001171.6):c.1245G>A (p.V415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16198114C>T" "" "benign" "" "0000556957" "0" "30" "16" "16292001" "16292001" "subst" "0.000260288" "01943" "ABCC6_000494" "g.16292001C>T" "" "" "" "ABCC6(NM_001171.5):c.1215G>A (p.A405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16198144C>T" "" "likely benign" "" "0000556958" "0" "30" "16" "16295863" "16295863" "subst" "0.00557184" "01804" "ABCC6_000033" "g.16295863T>C" "" "" "" "ABCC6(NM_001171.5):c.1171A>G (p.(Arg391Gly)), ABCC6(NM_001171.6):c.1171A>G (p.R391G), ABCC6(NM_001351800.1):c.829A>G (p.R277G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16202006T>C" "" "likely benign" "" "0000556959" "0" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "02329" "ABCC6_000030" "g.16295902G>A" "" "" "" "ABCC6(NM_001171.6):c.1132C>T (p.Q378*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16202045G>A" "" "pathogenic" "" "0000556960" "0" "50" "16" "16295926" "16295926" "subst" "0.000321206" "01943" "ABCC6_000028" "g.16295926T>C" "" "" "" "ABCC6(NM_001171.5):c.1108A>G (p.N370D, p.(Asn370Asp)), ABCC6(NM_001351800.1):c.766A>G (p.N256D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16202069T>C" "" "VUS" "" "0000556962" "0" "30" "16" "16297262" "16297262" "subst" "5.70376E-5" "01804" "ABCC6_000495" "g.16297262C>T" "" "" "" "ABCC6(NM_001171.5):c.998+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16203405C>T" "" "likely benign" "" "0000556964" "0" "30" "16" "16302565" "16302565" "subst" "0.000219498" "02330" "ABCC6_000496" "g.16302565C>T" "" "" "" "ABCC6(NM_001171.6):c.794+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16208708C>T" "" "likely benign" "" "0000556965" "0" "10" "16" "16302586" "16302586" "subst" "0.042575" "02330" "ABCC6_000015" "g.16302586T>C" "" "" "" "ABCC6(NM_001171.6):c.793A>G (p.R265G), ABCC6(NM_001351800.1):c.451A>G (p.R151G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16208729T>C" "" "benign" "" "0000556966" "0" "50" "16" "16302637" "16302637" "subst" "0.000792999" "01943" "ABCC6_000013" "g.16302637G>A" "" "" "" "ABCC6(NM_001171.5):c.742C>T (p.L248F, p.(Leu248Phe)), ABCC6(NM_001171.6):c.742C>T (p.L248F), ABCC6(NM_001351800.1):c.400C>T (p.L134F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16208780G>A" "" "VUS" "" "0000556967" "0" "10" "16" "16306059" "16306059" "subst" "0.040166" "02330" "ABCC6_000009" "g.16306059C>T" "" "" "" "ABCC6(NM_001171.6):c.645G>A (p.T215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16212202C>T" "" "benign" "" "0000556969" "0" "30" "16" "16308263" "16308263" "subst" "0" "01804" "ABCC6_000497" "g.16308263C>T" "" "" "" "ABCC6(NM_001171.5):c.518G>A (p.(Cys173Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16214406C>T" "" "likely benign" "" "0000556970" "0" "10" "16" "16308294" "16308294" "subst" "0.00200428" "02330" "ABCC6_000498" "g.16308294C>T" "" "" "" "ABCC6(NM_001171.5):c.487G>A (p.D163N), ABCC6(NM_001171.6):c.487G>A (p.D163N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16214437C>T" "" "benign" "" "0000556971" "0" "10" "16" "16308294" "16308294" "subst" "0.00200428" "01943" "ABCC6_000498" "g.16308294C>T" "" "" "" "ABCC6(NM_001171.5):c.487G>A (p.D163N), ABCC6(NM_001171.6):c.487G>A (p.D163N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16214437C>T" "" "benign" "" "0000556973" "0" "10" "16" "16313545" "16313545" "subst" "0.0248278" "02330" "ABCC6_000223" "g.16313545C>T" "" "" "" "ABCC6(NM_001171.5):c.346-6G>A (p.(=)), ABCC6(NM_001171.6):c.346-6G>A, ABCC6(NM_001351800.1):c.4-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16219688C>T" "" "benign" "" "0000556974" "0" "30" "16" "16313545" "16313545" "subst" "0.0248278" "01804" "ABCC6_000223" "g.16313545C>T" "" "" "" "ABCC6(NM_001171.5):c.346-6G>A (p.(=)), ABCC6(NM_001171.6):c.346-6G>A, ABCC6(NM_001351800.1):c.4-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16219688C>T" "" "likely benign" "" "0000556975" "0" "10" "16" "16313653" "16313653" "subst" "0.0235092" "02330" "ABCC6_000222" "g.16313653G>A" "" "" "" "ABCC6(NM_001171.6):c.345+26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16219796G>A" "" "benign" "" "0000556976" "0" "10" "16" "16315546" "16315546" "subst" "0.000219675" "02330" "ABCC6_000499" "g.16315546C>T" "" "" "" "ABCC6(NM_001171.5):c.179G>A (p.R60Q), ABCC6(NM_001171.6):c.179G>A (p.R60Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16221689C>T" "" "benign" "" "0000556977" "0" "90" "16" "16315607" "16315607" "dup" "0" "02330" "ABCC6_000500" "g.16315607dup" "" "" "" "ABCC6(NM_001171.6):c.123dupC (p.M42Hfs*59)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16221750dup" "" "pathogenic" "" "0000556978" "0" "30" "16" "16315658" "16315658" "subst" "2.1142E-5" "01943" "ABCC6_000501" "g.16315658C>A" "" "" "" "ABCC6(NM_001171.5):c.67G>T (p.A23S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16221801C>A" "" "likely benign" "" "0000556979" "0" "30" "16" "16317295" "16317296" "ins" "0" "02330" "ABCC6_000502" "g.16317295_16317296insAGGC" "" "" "" "ABCC6(NM_001171.6):c.-2_-1insTGCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16223438_16223439insAGGC" "" "likely benign" "" "0000578974" "0" "90" "16" "16248831" "16248831" "subst" "0.000173115" "01675" "ABCC6_000179" "g.16248831G>A" "" "{PMID:Patel 2004:15029465}" "" "" "possible di-genic inheritance" "Germline" "" "" "0" "" "" "g.16154974G>A" "" "pathogenic" "" "0000615756" "0" "10" "16" "16244584" "16244584" "subst" "0.00708433" "02327" "ABCC6_000206" "g.16244584C>T" "" "" "" "ABCC6(NM_001171.5):c.4254G>A (p.R1418=), ABCC6(NM_001171.6):c.4254G>A (p.R1418=, p.(Arg1418=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16150727C>T" "" "benign" "" "0000615757" "0" "50" "16" "16244585" "16244585" "subst" "2.4497E-5" "02327" "ABCC6_000205" "g.16244585C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16150728C>T" "" "VUS" "" "0000615758" "0" "30" "16" "16244644" "16244644" "subst" "0" "02330" "ABCC6_000504" "g.16244644G>A" "" "" "" "ABCC6(NM_001171.6):c.4209-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16150787G>A" "" "likely benign" "" "0000615759" "0" "10" "16" "16248476" "16248476" "subst" "0.0152659" "02327" "ABCC6_000329" "g.16248476C>T" "" "" "" "ABCC6(NM_001171.5):c.4208+9G>A, ABCC6(NM_001171.6):c.4208+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154619C>T" "" "benign" "" "0000615760" "0" "50" "16" "16248589" "16248589" "del" "2.05153E-5" "02327" "ABCC6_000505" "g.16248589del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154732del" "" "VUS" "" "0000615761" "0" "30" "16" "16248657" "16248657" "subst" "0" "02327" "ABCC6_000507" "g.16248657G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154800G>A" "" "likely benign" "" "0000615762" "0" "10" "16" "16248791" "16248791" "subst" "0.0011343" "02327" "ABCC6_000471" "g.16248791C>T" "" "" "" "ABCC6(NM_001171.5):c.3980G>A (p.(Gly1327Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154934C>T" "" "benign" "" "0000615763" "0" "50" "16" "16248792" "16248792" "subst" "0.000137685" "02327" "ABCC6_000436" "g.16248792C>T" "" "" "" "ABCC6(NM_001171.5):c.3979G>A (p.G1327R, p.(Gly1327Arg)), ABCC6(NM_001351800.1):c.3637G>A (p.G1213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154935C>T" "" "VUS" "" "0000615764" "0" "30" "16" "16248868" "16248868" "subst" "0.000202209" "02327" "ABCC6_000472" "g.16248868G>A" "" "" "" "ABCC6(NM_001171.5):c.3903C>T (p.T1301=), ABCC6(NM_001351800.1):c.3561C>T (p.T1187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16155011G>A" "" "likely benign" "" "0000615765" "0" "30" "16" "16248886" "16248886" "subst" "3.33E-5" "02327" "ABCC6_000508" "g.16248886C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16155029C>T" "" "likely benign" "" "0000615766" "0" "10" "16" "16251599" "16251599" "subst" "0.250967" "02326" "ABCC6_000164" "g.16251599C>T" "" "" "" "ABCC6(NM_001171.6):c.3803G>A (p.R1268Q, p.(Arg1268Gln)), ABCC6(NM_001351800.1):c.3461G>A (p.R1154Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16157742C>T" "" "benign" "" "0000615767" "0" "50" "16" "16251627" "16251627" "del" "8.97058E-5" "02327" "ABCC6_000509" "g.16251627del" "" "" "" "ABCC6(NM_001171.6):c.3775delT (p.W1259Gfs*14), ABCC6(NM_001351800.1):c.3433delT (p.W1145Gfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16157770del" "" "VUS" "" "0000615768" "0" "30" "16" "16251651" "16251651" "subst" "6.57678E-5" "01943" "ABCC6_000510" "g.16251651G>A" "" "" "" "ABCC6(NM_001171.5):c.3751C>T (p.P1251S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16157794G>A" "" "likely benign" "" "0000615769" "0" "10" "16" "16255424" "16255424" "subst" "0.0165402" "02330" "ABCC6_000310" "g.16255424G>A" "" "" "" "ABCC6(NM_001171.5):c.3507-3C>T (p.?), ABCC6(NM_001171.6):c.3507-3C>T, ABCC6(NM_001351800.1):c.3165-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16161567G>A" "" "benign" "" "0000615770" "0" "30" "16" "16255424" "16255424" "subst" "0.0165402" "02326" "ABCC6_000310" "g.16255424G>A" "" "" "" "ABCC6(NM_001171.5):c.3507-3C>T (p.?), ABCC6(NM_001171.6):c.3507-3C>T, ABCC6(NM_001351800.1):c.3165-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16161567G>A" "" "likely benign" "" "0000615771" "0" "30" "16" "16256903" "16256903" "subst" "0" "02327" "ABCC6_000511" "g.16256903A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16163046A>G" "" "likely benign" "" "0000615772" "0" "90" "16" "16256935" "16256935" "subst" "0.00137701" "01804" "ABCC6_000142" "g.16256935G>A" "" "" "" "ABCC6(NM_001171.5):c.3421C>T (p.R1141*, p.(Arg1141*)), ABCC6(NM_001351800.1):c.3079C>T (p.R1027*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16163078G>A" "" "pathogenic" "" "0000615773" "0" "90" "16" "16256935" "16256935" "subst" "0.00137701" "02326" "ABCC6_000142" "g.16256935G>A" "" "" "" "ABCC6(NM_001171.5):c.3421C>T (p.R1141*, p.(Arg1141*)), ABCC6(NM_001351800.1):c.3079C>T (p.R1027*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16163078G>A" "" "pathogenic" "" "0000615774" "0" "30" "16" "16259596" "16259596" "subst" "0.0209464" "02327" "ABCC6_000124" "g.16259596G>A" "" "" "" "ABCC6(NM_001171.5):c.3190C>T (p.R1064W), ABCC6(NM_001351800.1):c.2848C>T (p.R950W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16165739G>A" "" "likely benign" "" "0000615775" "0" "10" "16" "16259596" "16259596" "subst" "0.0209464" "02325" "ABCC6_000124" "g.16259596G>A" "" "" "" "ABCC6(NM_001171.5):c.3190C>T (p.R1064W), ABCC6(NM_001351800.1):c.2848C>T (p.R950W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16165739G>A" "" "benign" "" "0000615776" "0" "30" "16" "16259616" "16259616" "subst" "0" "02327" "ABCC6_000512" "g.16259616A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16165759A>G" "" "likely benign" "" "0000615777" "0" "30" "16" "16259618" "16259618" "subst" "0.000113762" "02327" "ABCC6_000477" "g.16259618G>A" "" "" "" "ABCC6(NM_001171.5):c.3168C>T (p.D1056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16165761G>A" "" "likely benign" "" "0000615778" "0" "50" "16" "16259723" "16259723" "subst" "4.88373E-5" "02327" "ABCC6_000478" "g.16259723G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16165866G>T" "" "VUS" "" "0000615779" "0" "30" "16" "16259762" "16259762" "subst" "0.000122934" "01943" "ABCC6_000479" "g.16259762C>T" "" "" "" "ABCC6(NM_001171.5):c.3024G>A (p.A1008=), ABCC6(NM_001171.6):c.3024G>A (p.A1008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16165905C>T" "" "likely benign" "" "0000615780" "0" "30" "16" "16259806" "16259806" "subst" "0.00023547" "02327" "ABCC6_000513" "g.16259806A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16165949A>T" "" "likely benign" "" "0000615781" "0" "30" "16" "16263497" "16263497" "subst" "0.000200849" "02327" "ABCC6_000514" "g.16263497G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16169640G>A" "" "likely benign" "" "0000615782" "0" "10" "16" "16263662" "16263662" "subst" "0.0164859" "02330" "ABCC6_000111" "g.16263662G>T" "" "" "" "ABCC6(NM_001171.5):c.2836C>A (p.(Leu946Ile)), ABCC6(NM_001171.6):c.2836C>A (p.L946I), ABCC6(NM_001351800.1):c.2494C>A (p.L832I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16169805G>T" "" "benign" "" "0000615783" "0" "30" "16" "16263662" "16263662" "subst" "0.0164859" "02326" "ABCC6_000111" "g.16263662G>T" "" "" "" "ABCC6(NM_001171.5):c.2836C>A (p.(Leu946Ile)), ABCC6(NM_001171.6):c.2836C>A (p.L946I), ABCC6(NM_001351800.1):c.2494C>A (p.L832I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16169805G>T" "" "likely benign" "" "0000615784" "0" "90" "16" "16267140" "16267140" "subst" "0.000125995" "02325" "ABCC6_000344" "g.16267140C>A" "" "" "" "ABCC6(NM_001171.6):c.2787+1G>T, ABCC6(NM_001351800.1):c.2445+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16173283C>A" "" "pathogenic" "" "0000615785" "0" "30" "16" "16267165" "16267165" "subst" "2.43732E-5" "02327" "ABCC6_000515" "g.16267165T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16173308T>G" "" "likely benign" "" "0000615786" "0" "10" "16" "16276292" "16276292" "subst" "0.0163564" "02327" "ABCC6_000078" "g.16276292T>C" "" "" "" "ABCC6(NM_001171.5):c.2224A>G (p.(Ile742Val)), ABCC6(NM_001171.6):c.2224A>G (p.I742V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182435T>C" "" "benign" "" "0000615787" "0" "10" "16" "16276341" "16276341" "subst" "0.0163287" "02327" "ABCC6_000076" "g.16276341T>A" "" "" "" "ABCC6(NM_001171.6):c.2175A>T (p.V725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182484T>A" "" "benign" "" "0000615788" "0" "10" "16" "16276345" "16276345" "subst" "0.0137667" "02327" "ABCC6_000075" "g.16276345C>T" "" "" "" "ABCC6(NM_001171.5):c.2171G>A (p.(Arg724Lys)), ABCC6(NM_001171.6):c.2171G>A (p.R724K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16182488C>T" "" "benign" "" "0000615789" "0" "30" "16" "16281005" "16281005" "subst" "0" "02327" "ABCC6_000516" "g.16281005C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16187148C>T" "" "likely benign" "" "0000615790" "0" "50" "16" "16282801" "16282801" "subst" "0" "02327" "ABCC6_000517" "g.16282801G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16188944G>C" "" "VUS" "" "0000615791" "0" "10" "16" "16282847" "16282847" "dup" "0" "02327" "ABCC6_000518" "g.16282847dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16188990dup" "" "benign" "" "0000615792" "0" "50" "16" "16284103" "16284103" "subst" "8.53221E-5" "02327" "ABCC6_000048" "g.16284103C>T" "" "" "" "ABCC6(NM_001171.5):c.1553G>A (p.(Arg518Gln)), ABCC6(NM_001351800.1):c.1211G>A (p.R404Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16190246C>T" "" "VUS" "" "0000615793" "0" "30" "16" "16284162" "16284162" "subst" "8.12341E-6" "01943" "ABCC6_000519" "g.16284162C>T" "" "" "" "ABCC6(NM_001171.5):c.1494G>A (p.S498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16190305C>T" "" "likely benign" "" "0000615794" "0" "30" "16" "16286795" "16286795" "subst" "0" "02330" "ABCC6_000520" "g.16286795G>A" "" "" "" "ABCC6(NM_001351800.1):c.997-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16192938G>A" "" "likely benign" "" "0000615795" "0" "30" "16" "16286796" "16286796" "subst" "0" "02330" "ABCC6_000521" "g.16286796C>A" "" "" "" "ABCC6(NM_001351800.1):c.997-17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16192939C>A" "" "likely benign" "" "0000615796" "0" "10" "16" "16291858" "16291858" "subst" "0.778896" "02327" "ABCC6_000233" "g.16291858G>C" "" "" "" "ABCC6(NM_001171.6):c.1338+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16198001G>C" "" "benign" "" "0000615797" "0" "30" "16" "16302586" "16302586" "subst" "0.042575" "02326" "ABCC6_000015" "g.16302586T>C" "" "" "" "ABCC6(NM_001171.6):c.793A>G (p.R265G), ABCC6(NM_001351800.1):c.451A>G (p.R151G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16208729T>C" "" "likely benign" "" "0000615798" "0" "30" "16" "16302602" "16302602" "subst" "0" "02327" "ABCC6_000522" "g.16302602G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16208745G>A" "" "likely benign" "" "0000615800" "0" "30" "16" "16308295" "16308295" "subst" "0" "02327" "ABCC6_000523" "g.16308295G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16214438G>A" "" "likely benign" "" "0000615801" "0" "30" "16" "16313545" "16313545" "subst" "0.0248278" "02326" "ABCC6_000223" "g.16313545C>T" "" "" "" "ABCC6(NM_001171.5):c.346-6G>A (p.(=)), ABCC6(NM_001171.6):c.346-6G>A, ABCC6(NM_001351800.1):c.4-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16219688C>T" "" "likely benign" "" "0000623384" "0" "50" "16" "16244025" "16244025" "subst" "3.26845E-5" "01943" "ABCC6_000503" "g.16244025A>G" "" "" "" "ABCC6(NM_001351800.1):c.4135T>C (p.F1379L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16150168A>G" "" "VUS" "" "0000623385" "0" "50" "16" "16248588" "16248588" "subst" "0.000209257" "01943" "ABCC6_000433" "g.16248588C>T" "" "" "" "ABCC6(NM_001171.5):c.4105G>A (p.(Glu1369Lys)), ABCC6(NM_001171.6):c.4105G>A (p.E1369K), ABCC6(NM_001351800.1):c.3763G>A (p.E1255K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154731C>T" "" "VUS" "" "0000623386" "0" "30" "16" "16248589" "16248589" "subst" "9.02275E-5" "01943" "ABCC6_000506" "g.16248589G>A" "" "" "" "ABCC6(NM_001351800.1):c.3762C>T (p.D1254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154732G>A" "" "likely benign" "" "0000623387" "0" "70" "16" "16248792" "16248792" "subst" "0.000137685" "02325" "ABCC6_000436" "g.16248792C>T" "" "" "" "ABCC6(NM_001171.5):c.3979G>A (p.G1327R, p.(Gly1327Arg)), ABCC6(NM_001351800.1):c.3637G>A (p.G1213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16154935C>T" "" "likely pathogenic" "" "0000623388" "0" "30" "16" "16248868" "16248868" "subst" "0.000202209" "02330" "ABCC6_000472" "g.16248868G>A" "" "" "" "ABCC6(NM_001171.5):c.3903C>T (p.T1301=), ABCC6(NM_001351800.1):c.3561C>T (p.T1187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16155011G>A" "" "likely benign" "" "0000649244" "1" "50" "16" "16251663" "16251663" "subst" "0.000148965" "03575" "ABCC6_000524" "g.16251663G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199694536}" "Germline" "" "rs199694536" "0" "" "" "g.16157806G>T" "" "VUS" "" "0000649246" "1" "10" "16" "16259596" "16259596" "subst" "0.0209464" "03575" "ABCC6_000124" "g.16259596G>A" "158/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "158 heterozygous; {DB:CLININrs41278174}" "Germline" "" "rs41278174" "0" "" "" "g.16165739G>A" "" "benign" "" "0000649247" "1" "10" "16" "16271409" "16271409" "subst" "0.139169" "03575" "ABCC6_000097" "g.16271409G>A" "251/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "251 heterozygous; {DB:CLININrs9924755}" "Germline" "" "rs9924755" "0" "" "" "g.16177552G>A" "" "benign" "" "0000649248" "1" "90" "16" "16272792" "16272792" "subst" "3.27059E-5" "03575" "ABCC6_000082" "g.16272792G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs72653788}" "Germline" "" "rs72653788" "0" "" "" "g.16178935G>A" "" "pathogenic" "" "0000649249" "1" "10" "16" "16276292" "16276292" "subst" "0.0163564" "03575" "ABCC6_000078" "g.16276292T>C" "139/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "139 heterozygous; {DB:CLININrs59593133}" "Germline" "" "rs59593133" "0" "" "" "g.16182435T>C" "" "benign" "" "0000649250" "1" "10" "16" "16276345" "16276345" "subst" "0.0137667" "03575" "ABCC6_000075" "g.16276345C>T" "139/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "139 heterozygous; {DB:CLININrs58073789}" "Germline" "" "rs58073789" "0" "" "" "g.16182488C>T" "" "benign" "" "0000649251" "1" "50" "16" "16295863" "16295863" "subst" "0.00557184" "03575" "ABCC6_000033" "g.16295863T>C" "40/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 40 heterozygous, no homozygous; {DB:CLININrs72653762}" "Germline" "" "rs72653762" "0" "" "" "g.16202006T>C" "" "VUS" "" "0000653317" "1" "90" "16" "16272776" "16272776" "subst" "3.66581E-5" "03575" "ABCC6_000083" "g.16272776C>T" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs67561842}" "Germline" "" "rs67561842" "0" "" "" "g.16178919C>T" "" "pathogenic" "" "0000653561" "3" "90" "16" "16284104" "16284104" "subst" "4.06336E-5" "01164" "ABCC6_000047" "g.16284104G>A" "" "" "" "" "ACMG: PVS1,PM2,PP1; Meloni et al. 2001. Hum Mutat 1: 85; Miksch et al. 2005. Hum Mutat 3: 235; Nitschke et al. 2012. Am J Hum Genet 1: 25" "Germline" "" "rs72650700" "0" "" "" "g.16190247G>A" "" "pathogenic" "ACMG" "0000657752" "0" "90" "16" "16267140" "16267140" "subst" "0.000125995" "02327" "ABCC6_000344" "g.16267140C>A" "" "" "" "ABCC6(NM_001171.6):c.2787+1G>T, ABCC6(NM_001351800.1):c.2445+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16173283C>A" "" "pathogenic" "" "0000657753" "0" "50" "16" "16271467" "16271467" "subst" "2.84317E-5" "01943" "ABCC6_000094" "g.16271467G>A" "" "" "" "ABCC6(NM_001171.6):c.2432C>T (p.(Thr811Met)), ABCC6(NM_001351800.1):c.2090C>T (p.T697M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16177610G>A" "" "VUS" "" "0000657754" "0" "90" "16" "16284139" "16284139" "subst" "0" "02327" "ABCC6_000525" "g.16284139C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16190282C>T" "" "pathogenic" "" "0000657755" "0" "30" "16" "16284244" "16284244" "subst" "0" "02330" "ABCC6_000526" "g.16284244G>A" "" "" "" "ABCC6(NM_001351800.1):c.1090-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16190387G>A" "" "likely benign" "" "0000657756" "0" "30" "16" "16291974" "16291974" "subst" "8.29593E-6" "01943" "ABCC6_000527" "g.16291974G>A" "" "" "" "ABCC6(NM_001351800.1):c.900C>T (p.S300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16198117G>A" "" "likely benign" "" "0000663577" "1" "50" "16" "16263662" "16263662" "subst" "0.0164859" "00006" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Arno 2017:28132693}" "" "" "does not fit phenotype" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "VUS" "" "0000663578" "1" "30" "16" "16255424" "16255424" "subst" "0.0165402" "00006" "ABCC6_000310" "g.16255424G>A" "" "{PMID:Arno 2017:28132693}" "" "" "does not fit phenotype" "Germline" "" "" "0" "" "" "g.16161567G>A" "" "VUS" "" "0000663628" "1" "50" "16" "16255424" "16255424" "subst" "0.0165402" "00006" "ABCC6_000310" "g.16255424G>A" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.16161567G>A" "" "VUS" "" "0000663629" "2" "50" "16" "16263662" "16263662" "subst" "0.0164859" "00006" "ABCC6_000111" "g.16263662G>T" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.16169805G>T" "" "VUS" "" "0000663709" "1" "70" "16" "16257016" "16257016" "subst" "8.54388E-5" "01164" "ABCC6_000126" "g.16257016G>A" "" "" "" "" "ACMG grading: PM2,PM5,PP3,PP4,PP5\r\nin combination with c.1132C>T p.Q378* on other allele, confirmed per sanger-sequencing / recombination with pseudogene; Gheduzzi et al. 2004. Hum 24: 438; Nitschke et al. 2012. Am 90: 25; Miksch et al. 2005. Human Mutat 26: 235-48" "Germline" "" "rs63749794" "0" "" "" "g.16163159G>A" "" "likely pathogenic" "ACMG" "0000664517" "2" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "01164" "ABCC6_000030" "g.16295902G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic" "" "0000669316" "3" "50" "16" "16255424" "16255424" "subst" "0.0165402" "03575" "ABCC6_000310" "g.16255424G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 homozygous; {DB:CLININrs41278172}" "Germline" "" "rs41278172" "0" "" "" "g.16161567G>A" "" "VUS" "" "0000669317" "3" "10" "16" "16259596" "16259596" "subst" "0.0209464" "03575" "ABCC6_000124" "g.16259596G>A" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs41278174}" "Germline" "" "rs41278174" "0" "" "" "g.16165739G>A" "" "benign" "" "0000669318" "3" "10" "16" "16271409" "16271409" "subst" "0.139169" "03575" "ABCC6_000097" "g.16271409G>A" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs9924755}" "Germline" "" "rs9924755" "0" "" "" "g.16177552G>A" "" "benign" "" "0000669319" "3" "10" "16" "16276292" "16276292" "subst" "0.0163564" "03575" "ABCC6_000078" "g.16276292T>C" "1/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs59593133}" "Germline" "" "rs59593133" "0" "" "" "g.16182435T>C" "" "benign" "" "0000669320" "3" "10" "16" "16276345" "16276345" "subst" "0.0137667" "03575" "ABCC6_000075" "g.16276345C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs58073789}" "Germline" "" "rs58073789" "0" "" "" "g.16182488C>T" "" "benign" "" "0000680416" "0" "50" "16" "16251522" "16251524" "del" "0" "02327" "ABCC6_000170" "g.16251522_16251524del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680417" "0" "90" "16" "16256943" "16256943" "subst" "7.71812E-5" "02330" "ABCC6_000139" "g.16256943C>T" "" "" "" "ABCC6(NM_001351800.1):c.3071G>A (p.R1024Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680418" "0" "50" "16" "16259598" "16259598" "subst" "8.12599E-6" "01943" "ABCC6_000123" "g.16259598A>C" "" "" "" "ABCC6(NM_001351800.1):c.2846T>G (p.L949R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680419" "0" "30" "16" "16263499" "16263499" "subst" "0" "01943" "ABCC6_000528" "g.16263499G>C" "" "" "" "ABCC6(NM_001351800.1):c.2653+4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680420" "0" "50" "16" "16263698" "16263698" "subst" "6.61279E-6" "01943" "ABCC6_000529" "g.16263698C>G" "" "" "" "ABCC6(NM_001351800.1):c.2458G>C (p.V820L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680421" "0" "50" "16" "16276430" "16276430" "subst" "3.2542E-5" "01943" "ABCC6_000530" "g.16276430C>T" "" "" "" "ABCC6(NM_001351800.1):c.1744G>A (p.V582M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680422" "0" "30" "16" "16286765" "16286765" "subst" "0.000239888" "01943" "ABCC6_000531" "g.16286765G>A" "" "" "" "ABCC6(NM_001351800.1):c.1011C>T (p.S337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680425" "0" "30" "16" "16313722" "16313722" "subst" "3.57603E-5" "01943" "ABCC6_000532" "g.16313722G>C" "" "" "" "ABCC6(NM_001171.5):c.302C>G (p.A101G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680426" "0" "50" "16" "16315531" "16315531" "subst" "0" "01943" "ABCC6_000533" "g.16315531A>T" "" "" "" "ABCC6(NM_001171.5):c.194T>A (p.M65K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680427" "0" "30" "16" "16315629" "16315629" "subst" "5.80104E-5" "01943" "ABCC6_000534" "g.16315629C>T" "" "" "" "ABCC6(NM_001171.5):c.96G>A (p.L32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684978" "0" "70" "16" "16244078" "16244078" "subst" "0" "00004" "ABCC6_000535" "g.16244078C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000684979" "0" "70" "16" "16248894" "16248894" "subst" "5.43922E-5" "00004" "ABCC6_000326" "g.16248894C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000684980" "0" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00004" "ABCC6_000142" "g.16256935G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000684981" "0" "70" "16" "16259596" "16259596" "subst" "0.0209464" "00004" "ABCC6_000124" "g.16259596G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000684982" "0" "90" "16" "16286705" "16286705" "del" "0" "00004" "ABCC6_000536" "g.16286705del" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.1413delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000691954" "0" "70" "16" "16297383" "16297383" "del" "0" "01943" "ABCC6_000537" "g.16297383del" "" "" "" "ABCC6(NM_001351800.1):c.541delC (p.Q181Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000713445" "0" "90" "16" "16248589" "16248590" "del" "0" "00000" "ABCC6_000538" "g.16248589_16248590del" "" "{PMID:Carss 2017:28041643}" "" "16:16248588CG>C ENST00000205557.7:c.4104delC (Asp1368GlufsTer35)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713777" "0" "90" "16" "16256967" "16256967" "subst" "6.09449E-5" "00000" "ABCC6_000135" "g.16256967G>A" "" "{PMID:Carss 2017:28041643}" "" "16:16256967G>A ENST00000205557.7:c.3389C>T (Thr1130Met)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000725482" "0" "90" "16" "16251627" "16251627" "del" "8.97058E-5" "02325" "ABCC6_000162" "g.16251627del" "" "" "" "ABCC6(NM_001171.6):c.3775delT (p.W1259Gfs*14), ABCC6(NM_001351800.1):c.3433delT (p.W1145Gfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725484" "0" "50" "16" "16291933" "16291933" "subst" "9.80272E-5" "01943" "ABCC6_000492" "g.16291933T>C" "" "" "" "ABCC6(NM_001171.5):c.1283A>G (p.(Asn428Ser)), ABCC6(NM_001351800.1):c.941A>G (p.N314S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725485" "0" "30" "16" "16291953" "16291953" "subst" "0.00167809" "01943" "ABCC6_000493" "g.16291953G>A" "" "" "" "ABCC6(NM_001171.6):c.1263C>T (p.T421=), ABCC6(NM_001351800.1):c.921C>T (p.T307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725486" "0" "50" "16" "16297436" "16297436" "subst" "2.44021E-5" "01943" "ABCC6_000462" "g.16297436C>T" "" "" "" "ABCC6(NM_001171.6):c.829G>A (p.G277S), ABCC6(NM_001351800.1):c.487G>A (p.G163S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725487" "0" "30" "16" "16315546" "16315546" "subst" "0.000219675" "01943" "ABCC6_000499" "g.16315546C>T" "" "" "" "ABCC6(NM_001171.5):c.179G>A (p.R60Q), ABCC6(NM_001171.6):c.179G>A (p.R60Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730343" "3" "90" "16" "16284173" "16284175" "del" "0" "00000" "ABCC6_000539" "g.16284173_16284175del" "" "{PMID:Sanchez-Navarro 2018:29588463}" "" "" "" "Germline" "" "" "0" "" "" "g.16190316_16190318del" "" "pathogenic (recessive)" "" "0000733508" "3" "70" "16" "16245511" "16261814" "del" "0" "00000" "ABCC6_000540" "g.16245511_16261814del" "" "{PMID:Stone 2017:28559085}" "" "del ex23-29, chr16:16245511-16261814del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000733509" "1" "70" "16" "16267143" "16267146" "del" "0" "00000" "ABCC6_000541" "g.16267143_16267146del" "" "{PMID:Stone 2017:28559085}" "" "2782_2785delGGCA" "" "Germline" "" "" "0" "" "" "g.16173286_16173289del" "" "likely pathogenic" "" "0000733881" "2" "70" "16" "16267140" "16267140" "subst" "0.000125995" "00000" "ABCC6_000344" "g.16267140C>A" "" "{PMID:Stone 2017:28559085}" "" "IVS21+1G>T" "" "Germline" "" "" "0" "" "" "g.16173283C>A" "" "likely pathogenic" "" "0000788071" "3" "50" "16" "16295863" "16295863" "subst" "0.00557184" "02404" "ABCC6_000033" "g.16295863T>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000788369" "0" "50" "16" "16263649" "16263649" "subst" "7.00469E-5" "00000" "ABCC6_000542" "g.16263649G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C2849T" "" "Germline" "" "rs190557767" "0" "" "" "g.16169792G>A" "" "VUS" "" "0000788457" "0" "50" "16" "16248624" "16248624" "subst" "4.56057E-5" "00000" "ABCC6_000196" "g.16248624G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C4069T" "" "Germline" "" "rs63750428" "0" "" "" "g.16154767G>A" "" "VUS" "" "0000788507" "0" "50" "16" "16291933" "16291933" "subst" "9.80272E-5" "00000" "ABCC6_000492" "g.16291933T>C" "" "{PMID:Katagiri 2014:25268133}" "" "A1283G" "" "Germline" "" "rs201880691" "0" "" "" "g.16198076T>C" "" "VUS" "" "0000794716" "0" "70" "16" "16267140" "16267140" "subst" "0.000125995" "00000" "ABCC6_000344" "g.16267140C>A" "" "{PMID:Kersten 2018:30215852}" "" "c.2787+1G>T; p.?" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.16173283C>A" "" "likely pathogenic" "" "0000794717" "0" "70" "16" "16267140" "16267140" "subst" "0.000125995" "00000" "ABCC6_000344" "g.16267140C>A" "" "{PMID:Kersten 2018:30215852}" "" "c.2787+1G>T; p.?" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.16173283C>A" "" "likely pathogenic" "" "0000797009" "0" "50" "16" "16259785" "16259785" "subst" "4.12626E-6" "00000" "ABCC6_000543" "g.16259785C>T" "" "{PMID:Wang-2014:24154662}" "" "c.3001G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000807100" "0" "90" "16" "16248511" "16248511" "del" "5.31889E-5" "01943" "ABCC6_000200" "g.16248511del" "" "" "" "ABCC6(NM_001171.5):c.4182del (p.(Lys1394AsnfsTer9)), ABCC6(NM_001351800.1):c.3840delG (p.K1280Nfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807101" "0" "70" "16" "16248831" "16248831" "subst" "0.000173115" "02330" "ABCC6_000179" "g.16248831G>A" "" "" "" "ABCC6(NM_001351800.1):c.3598C>T (p.R1200W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000807102" "0" "10" "16" "16248912" "16248912" "subst" "0.00616609" "02330" "ABCC6_000376" "g.16248912C>T" "" "" "" "ABCC6(NM_001351800.1):c.3541-24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807103" "0" "90" "16" "16256935" "16256935" "subst" "0.00137701" "02329" "ABCC6_000142" "g.16256935G>A" "" "" "" "ABCC6(NM_001171.5):c.3421C>T (p.R1141*, p.(Arg1141*)), ABCC6(NM_001351800.1):c.3079C>T (p.R1027*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807104" "0" "10" "16" "16259596" "16259596" "subst" "0.0209464" "02330" "ABCC6_000124" "g.16259596G>A" "" "" "" "ABCC6(NM_001171.5):c.3190C>T (p.R1064W), ABCC6(NM_001351800.1):c.2848C>T (p.R950W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807105" "0" "90" "16" "16267140" "16267140" "subst" "0.000125995" "02329" "ABCC6_000344" "g.16267140C>A" "" "" "" "ABCC6(NM_001171.6):c.2787+1G>T, ABCC6(NM_001351800.1):c.2445+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807106" "0" "50" "16" "16269775" "16269775" "subst" "0.000227642" "01943" "ABCC6_000483" "g.16269775G>A" "" "" "" "ABCC6(NM_001171.5):c.2659C>T (p.(Arg887Cys)), ABCC6(NM_001171.6):c.2659C>T (p.R887C), ABCC6(NM_001351800.1):c.2317C>T (p.R773C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807107" "0" "50" "16" "16269775" "16269775" "subst" "0.000227642" "02325" "ABCC6_000483" "g.16269775G>A" "" "" "" "ABCC6(NM_001171.5):c.2659C>T (p.(Arg887Cys)), ABCC6(NM_001171.6):c.2659C>T (p.R887C), ABCC6(NM_001351800.1):c.2317C>T (p.R773C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807108" "0" "50" "16" "16272764" "16272764" "subst" "0.000183019" "01943" "ABCC6_000485" "g.16272764C>T" "" "" "" "ABCC6(NM_001171.5):c.2306G>A (p.(Arg769Lys)), ABCC6(NM_001351800.1):c.1964G>A (p.R655K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807110" "0" "50" "16" "16282693" "16282693" "subst" "4.09088E-6" "02325" "ABCC6_000544" "g.16282693C>G" "" "" "" "ABCC6(NM_001171.6):c.1774G>C (p.V592L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807111" "0" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "02330" "ABCC6_000048" "g.16284103C>T" "" "" "" "ABCC6(NM_001171.5):c.1553G>A (p.(Arg518Gln)), ABCC6(NM_001351800.1):c.1211G>A (p.R404Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807112" "0" "30" "16" "16297254" "16297254" "subst" "4.89756E-5" "02330" "ABCC6_000545" "g.16297254G>A" "" "" "" "ABCC6(NM_001351800.1):c.656+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807113" "0" "50" "16" "16302637" "16302637" "subst" "0.000792999" "02325" "ABCC6_000013" "g.16302637G>A" "" "" "" "ABCC6(NM_001171.5):c.742C>T (p.L248F, p.(Leu248Phe)), ABCC6(NM_001171.6):c.742C>T (p.L248F), ABCC6(NM_001351800.1):c.400C>T (p.L134F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807114" "0" "10" "16" "16302719" "16302719" "subst" "0.000724477" "02330" "ABCC6_000546" "g.16302719G>A" "" "" "" "ABCC6(NM_001171.6):c.663-3C>T, ABCC6(NM_001351800.1):c.321-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807115" "0" "30" "16" "16313792" "16313792" "subst" "0.000508808" "01943" "ABCC6_000408" "g.16313792C>T" "" "" "" "ABCC6(NM_001171.5):c.232G>A (p.A78T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000816167" "0" "50" "16" "16284191" "16284191" "subst" "2.03089E-5" "00000" "ABCC6_000430" "g.16284191G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCC6 c.1465C>T, p.Arg489Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16190334G>A" "" "VUS" "" "0000821146" "0" "70" "16" "16256967" "16256967" "subst" "6.09449E-5" "00000" "ABCC6_000135" "g.16256967G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCC6 c.3389C>T, p.Thr1130Met" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16163110G>A" "" "likely pathogenic" "" "0000821147" "3" "70" "16" "16248864" "16248864" "subst" "0" "00000" "ABCC6_000175" "g.16248864C>G" "" "{PMID:Turro 2020:32581362}" "" "ABCC6 c.3907G>C, p.Ala1303Pro" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16155007C>G" "" "likely pathogenic" "" "0000821520" "0" "90" "16" "16248589" "16248589" "del" "2.05153E-5" "00000" "ABCC6_000198" "g.16248589del" "" "{PMID:Turro 2020:32581362}" "" "ABCC6 c.4104delC, p.Asp1368GlufsTer35" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16154732del" "" "pathogenic" "" "0000822070" "0" "70" "16" "16259598" "16259598" "subst" "8.12599E-6" "00000" "ABCC6_000123" "g.16259598A>C" "" "{PMID:Booij-2011:20801516}" "" "c.3188T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822071" "0" "70" "16" "16295957" "16295957" "subst" "0.00551057" "00000" "ABCC6_000025" "g.16295957T>C" "" "{PMID:Booij-2011:20801516}" "" "c.1077A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822072" "0" "70" "16" "16295902" "16295902" "subst" "4.47304E-5" "00000" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Booij-2011:20801516}" "" "c.1132C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822073" "0" "70" "16" "16295893" "16295893" "subst" "4.47333E-5" "00000" "ABCC6_000031" "g.16295893A>G" "" "{PMID:Booij-2011:20801516}" "" "c.1141T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822074" "3" "70" "16" "16235115" "16235115" "subst" "0" "00000" "ABCC6_000547" "g.16235115G>C" "" "{PMID:Booij-2011:20801516}" "" "c.1338+7c>G" "" "Germline" "" "rs9940089" "0" "" "" "" "" "likely pathogenic" "" "0000822075" "0" "70" "16" "16308254" "16308254" "subst" "0" "00000" "ABCC6_000549" "g.16308254A>G" "" "{PMID:Booij-2011:20801516}" "" "c.527T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822076" "0" "70" "16" "16313512" "16313512" "subst" "0.000806235" "00000" "ABCC6_000550" "g.16313512C>T" "" "{PMID:Booij-2011:20801516}" "" "c.373G>A" "" "Germline" "" "rs3853814" "0" "" "" "" "" "likely pathogenic" "" "0000822077" "0" "70" "16" "16313412" "16313412" "subst" "0" "00000" "ABCC6_000006" "g.16313412G>A" "" "{PMID:Booij-2011:20801516}" "" "c.473C>T" "" "Germline" "" "rs2606921" "0" "" "" "" "" "likely pathogenic" "" "0000822078" "0" "70" "16" "16281007" "16281007" "subst" "0.425009" "00000" "ABCC6_000057" "g.16281007A>G" "" "{PMID:Booij-2011:20801516}" "" "c.1841T>C" "" "Germline" "" "rs12931472" "0" "" "" "" "" "likely pathogenic" "" "0000822079" "0" "70" "16" "16251599" "16251599" "subst" "0.250967" "00000" "ABCC6_000164" "g.16251599C>T" "" "{PMID:Booij-2011:20801516}" "" "c.3803G>A" "" "Germline" "" "rs2238472" "0" "" "" "" "" "likely pathogenic" "" "0000822080" "3" "70" "16" "16256935" "16256935" "subst" "0.00137701" "00000" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Booij-2011:20801516}" "" "c.3421C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822081" "0" "70" "16" "16276446" "16276446" "subst" "0" "00000" "ABCC6_000548" "g.16276446C>T" "" "{PMID:Booij-2011:20801516}" "" "c.2071-1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822082" "0" "70" "16" "16313792" "16313792" "subst" "0.000508808" "00000" "ABCC6_000408" "g.16313792C>T" "" "{PMID:Booij-2011:20801516}" "" "c.232G>A" "" "Germline" "" "rs2856597" "0" "" "" "" "" "likely pathogenic" "" "0000822083" "0" "70" "16" "16284104" "16284104" "subst" "4.06336E-5" "00000" "ABCC6_000047" "g.16284104G>A" "" "{PMID:Booij-2011:20801516}" "" "c.1552C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000827010" "0" "90" "16" "16256943" "16256943" "subst" "7.71812E-5" "00000" "ABCC6_000139" "g.16256943C>T" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCC6 c.3419G>A, p.Arg1138Gln" "error in annotation, p.Arg1138Gln is caused by c.3413G>A and not c.3419G>A, homozygous" "Unknown" "?" "" "0" "" "" "g.16163086C>T" "" "pathogenic" "" "0000827611" "21" "70" "16" "16253371" "16253371" "subst" "2.43692E-5" "00000" "ABCC6_000151" "g.16253371G>A" "" "{PMID:Kim 2021:33946315}" "" "ABCC6 c.3703C>T, p.(Arg1235Trp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16159514G>A" "" "likely pathogenic" "ACMG" "0000827616" "0" "50" "16" "16253376" "16253376" "subst" "8.12249E-6" "00000" "ABCC6_000551" "g.16253376A>G" "" "{PMID:Kim 2021:33946315}" "" "ABCC6 c.3698T>C, p.(Val1233Ala)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16159519A>G" "" "VUS" "ACMG" "0000847695" "1" "90" "16" "16256992" "16256992" "del" "0" "00006" "ABCC6_000132" "g.16256992del" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163135del" "" "pathogenic" "" "0000847696" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847697" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847698" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847699" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847700" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847701" "1" "90" "16" "16272792" "16272792" "subst" "3.27059E-5" "00006" "ABCC6_000082" "g.16272792G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16178935G>A" "" "pathogenic" "" "0000847702" "1" "90" "16" "16248484" "16259791" "del" "0" "00006" "ABCC6_000552" "g.(16244630_16248484)_(16259791_16263502)del" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.(16150773_16154627)_(16165934_16169645)del" "" "pathogenic" "" "0000847703" "1" "90" "16" "16248633" "16248633" "subst" "0" "00006" "ABCC6_000195" "g.16248633C>G" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16154776C>G" "" "pathogenic" "" "0000847704" "1" "90" "16" "16248633" "16248633" "subst" "0" "00006" "ABCC6_000195" "g.16248633C>G" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16154776C>G" "" "pathogenic" "" "0000847705" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847706" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847707" "1" "90" "16" "16248589" "16248589" "del" "2.05153E-5" "00006" "ABCC6_000198" "g.16248589del" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16154732del" "" "pathogenic" "" "0000847708" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847709" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847710" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847711" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847712" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847713" "1" "90" "16" "16259598" "16259598" "subst" "8.12599E-6" "00006" "ABCC6_000123" "g.16259598A>C" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16165741A>C" "" "pathogenic" "" "0000847714" "1" "90" "16" "16248864" "16248864" "subst" "0" "00006" "ABCC6_000175" "g.16248864C>G" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16155007C>G" "" "pathogenic" "" "0000847715" "1" "90" "16" "16248484" "16259791" "del" "0" "00006" "ABCC6_000552" "g.(16244630_16248484)_(16259791_16263502)del" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.(16150773_16154627)_(16165934_16169645)del" "" "pathogenic" "" "0000847716" "1" "90" "16" "16248864" "16248864" "subst" "0" "00006" "ABCC6_000175" "g.16248864C>G" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16155007C>G" "" "pathogenic" "" "0000847717" "1" "90" "16" "16278896" "16278896" "subst" "2.43964E-5" "00006" "ABCC6_000263" "g.16278896A>C" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16185039A>C" "" "pathogenic" "" "0000847718" "1" "90" "16" "16248484" "16259791" "del" "0" "00006" "ABCC6_000552" "g.(16244630_16248484)_(16259791_16263502)del" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.(16150773_16154627)_(16165934_16169645)del" "" "pathogenic" "" "0000847719" "1" "90" "16" "16276735" "16276735" "subst" "0" "00006" "ABCC6_000068" "g.16276735C>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16182878C>A" "" "pathogenic" "" "0000847720" "1" "90" "16" "16276735" "16276735" "subst" "0" "00006" "ABCC6_000068" "g.16276735C>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16182878C>A" "" "pathogenic" "" "0000847721" "1" "90" "16" "16251627" "16251627" "del" "8.97058E-5" "00006" "ABCC6_000162" "g.16251627del" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16157770del" "" "pathogenic" "" "0000847722" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847723" "1" "90" "16" "16295863" "16295863" "subst" "0.00557184" "00006" "ABCC6_000033" "g.16295863T>C" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16202006T>C" "" "pathogenic" "" "0000847724" "1" "90" "16" "16271479" "16271479" "subst" "2.84366E-5" "00006" "ABCC6_000092" "g.16271479C>T" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16177622C>T" "" "pathogenic" "" "0000847725" "1" "90" "16" "16248884" "16248884" "subst" "0" "00006" "ABCC6_000553" "g.16248884C>T" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16155027C>T" "" "pathogenic" "" "0000847726" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847727" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847728" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847729" "1" "90" "16" "16248864" "16248864" "subst" "0" "00006" "ABCC6_000175" "g.16248864C>G" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16155007C>G" "" "pathogenic" "" "0000847730" "1" "90" "16" "16248864" "16248864" "subst" "0" "00006" "ABCC6_000175" "g.16248864C>G" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16155007C>G" "" "pathogenic" "" "0000847731" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847732" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847733" "1" "90" "16" "16256992" "16256992" "del" "0" "00006" "ABCC6_000132" "g.16256992del" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163135del" "" "pathogenic" "" "0000847734" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847735" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847736" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847737" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847738" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847739" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847740" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847741" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000847742" "1" "90" "16" "16272818" "16272818" "subst" "0" "00006" "ABCC6_000080" "g.16272818A>T" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16178961A>T" "" "pathogenic" "" "0000847743" "1" "90" "16" "16248864" "16248864" "subst" "0" "00006" "ABCC6_000175" "g.16248864C>G" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16155007C>G" "" "pathogenic" "" "0000847744" "1" "90" "16" "16272818" "16272818" "subst" "0" "00006" "ABCC6_000080" "g.16272818A>T" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16178961A>T" "" "pathogenic" "" "0000847745" "1" "90" "16" "16295863" "16295863" "subst" "0.00557184" "00006" "ABCC6_000033" "g.16295863T>C" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16202006T>C" "" "pathogenic" "" "0000847746" "1" "90" "16" "16248864" "16248864" "subst" "0" "00006" "ABCC6_000175" "g.16248864C>G" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16155007C>G" "" "pathogenic" "" "0000847747" "1" "90" "16" "16267140" "16267140" "subst" "0.000125995" "00006" "ABCC6_000344" "g.16267140C>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16173283C>A" "" "pathogenic" "" "0000847748" "1" "90" "16" "16253365" "16253365" "subst" "0" "00006" "ABCC6_000152" "g.16253365G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16159508G>A" "" "pathogenic" "" "0000847749" "1" "90" "16" "16256848" "16256848" "subst" "0" "00006" "ABCC6_000554" "g.16256848A>G" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16162991A>G" "" "pathogenic" "" "0000847750" "1" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00006" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Nollet 2022:33820832}" "" "" "" "Germline" "" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "" "0000854298" "0" "50" "16" "16248822" "16248822" "subst" "0" "02330" "ABCC6_000555" "g.16248822C>G" "" "" "" "ABCC6(NM_001351800.1):c.3607G>C (p.E1203Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854299" "0" "90" "16" "16251627" "16251627" "del" "8.97058E-5" "02330" "ABCC6_000162" "g.16251627del" "" "" "" "ABCC6(NM_001171.6):c.3775delT (p.W1259Gfs*14), ABCC6(NM_001351800.1):c.3433delT (p.W1145Gfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854300" "0" "90" "16" "16272776" "16272776" "subst" "3.66581E-5" "02330" "ABCC6_000083" "g.16272776C>T" "" "" "" "ABCC6(NM_001351800.1):c.1952G>A (p.R651Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854302" "0" "50" "16" "16280995" "16280995" "subst" "4.48562E-5" "01943" "ABCC6_000454" "g.16280995C>T" "" "" "" "ABCC6(NM_001171.6):c.1853G>A (p.S618N), ABCC6(NM_001351800.1):c.1511G>A (p.S504N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864331" "0" "30" "16" "16248500" "16248500" "subst" "0.000102546" "01943" "ABCC6_000468" "g.16248500C>T" "" "" "" "ABCC6(NM_001171.6):c.4193G>A (p.R1398Q), ABCC6(NM_001351800.1):c.3851G>A (p.R1284Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864332" "0" "90" "16" "16267140" "16267140" "subst" "0.000125995" "02330" "ABCC6_000344" "g.16267140C>A" "" "" "" "ABCC6(NM_001171.6):c.2787+1G>T, ABCC6(NM_001351800.1):c.2445+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864334" "0" "50" "16" "16282693" "16282693" "subst" "4.49997E-5" "01943" "ABCC6_000489" "g.16282693C>T" "" "" "" "ABCC6(NM_001171.5):c.1774G>A (p.(Val592Ile)), ABCC6(NM_001351800.1):c.1432G>A (p.V478I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864335" "0" "50" "16" "16282828" "16282828" "subst" "0.000983866" "01943" "ABCC6_000556" "g.16282828C>T" "" "" "" "ABCC6(NM_001351800.1):c.1297G>A (p.A433T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864336" "0" "50" "16" "16284116" "16284116" "subst" "0.00105218" "01943" "ABCC6_000046" "g.16284116C>T" "" "" "" "ABCC6(NM_001171.6):c.1540G>A (p.V514I), ABCC6(NM_001351800.1):c.1198G>A (p.V400I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892576" "0" "70" "16" "16248612" "16248612" "subst" "1.23997E-5" "02330" "ABCC6_000197" "g.16248612C>T" "" "" "" "ABCC6(NM_001351800.1):c.3739G>A (p.D1247N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892577" "0" "90" "16" "16253413" "16253413" "subst" "1.62464E-5" "02330" "ABCC6_000147" "g.16253413G>A" "" "" "" "ABCC6(NM_001171.6):c.3661C>T (p.(Arg1221Cys)), ABCC6(NM_001351800.1):c.3319C>T (p.R1107C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892578" "0" "30" "16" "16255364" "16255364" "subst" "0.000219634" "02330" "ABCC6_000557" "g.16255364C>T" "" "" "" "ABCC6(NM_001351800.1):c.3222G>A (p.T1074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892579" "0" "30" "16" "16256993" "16256993" "subst" "5.28361E-5" "02330" "ABCC6_000558" "g.16256993C>T" "" "" "" "ABCC6(NM_001351800.1):c.3021G>A (p.S1007=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892581" "0" "30" "16" "16295863" "16295863" "subst" "0.00557184" "02325" "ABCC6_000033" "g.16295863T>C" "" "" "" "ABCC6(NM_001171.5):c.1171A>G (p.(Arg391Gly)), ABCC6(NM_001171.6):c.1171A>G (p.R391G), ABCC6(NM_001351800.1):c.829A>G (p.R277G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892582" "0" "50" "16" "16295926" "16295926" "subst" "0.000321206" "02330" "ABCC6_000028" "g.16295926T>C" "" "" "" "ABCC6(NM_001171.5):c.1108A>G (p.N370D, p.(Asn370Asp)), ABCC6(NM_001351800.1):c.766A>G (p.N256D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892584" "0" "90" "16" "16315529" "16315529" "dup" "0" "02330" "ABCC6_000559" "g.16315529dup" "" "" "" "ABCC6(NM_001171.6):c.196dupT (p.S66Ffs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000905911" "0" "90" "16" "16256935" "16256935" "subst" "0.00137701" "00000" "ABCC6_000142" "g.16256935G>A" "" "{PMID:Zhu 2022:35456422}" "" "ABCC6 c.3421C>T, p.(Arg1141*)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16163078G>A" "" "pathogenic" "ACMG" "0000914484" "0" "10" "16" "16263663" "16263663" "subst" "0.0856229" "02325" "ABCC6_000110" "g.16263663G>A" "" "" "" "ABCC6(NM_001171.6):c.2835C>T (p.P945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914486" "0" "10" "16" "16278863" "16278863" "subst" "0.419265" "02325" "ABCC6_000060" "g.16278863G>T" "" "" "" "ABCC6(NM_001171.6):c.1896C>A (p.H632Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914487" "0" "10" "16" "16278869" "16278869" "subst" "0.41901" "02325" "ABCC6_000059" "g.16278869G>C" "" "" "" "ABCC6(NM_001171.6):c.1890C>G (p.T630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914488" "0" "10" "16" "16281007" "16281007" "subst" "0.425009" "02325" "ABCC6_000057" "g.16281007A>G" "" "" "" "ABCC6(NM_001171.6):c.1841T>C (p.V614A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914489" "0" "50" "16" "16291892" "16291892" "subst" "2.44804E-5" "02325" "ABCC6_000560" "g.16291892C>T" "" "" "" "ABCC6(NM_001171.6):c.1324G>A (p.V442I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914490" "0" "10" "16" "16291971" "16291971" "subst" "0.286076" "02325" "ABCC6_000038" "g.16291971C>T" "" "" "" "ABCC6(NM_001171.6):c.1245G>A (p.V415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914491" "0" "90" "16" "16315607" "16315607" "del" "0" "02325" "ABCC6_000561" "g.16315607del" "" "" "" "ABCC6(NM_001171.6):c.123delC (p.M42Cfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000921591" "0" "30" "16" "16251599" "16251599" "subst" "0.250967" "03779" "ABCC6_000164" "g.16251599C>T" "" "" "" "" "" "Unknown" "" "rs2238472" "0" "" "" "" "" "likely benign" "" "0000926151" "0" "90" "16" "16315607" "16315607" "del" "0" "02330" "ABCC6_000561" "g.16315607del" "" "" "" "ABCC6(NM_001171.6):c.123delC (p.M42Cfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950527" "0" "50" "16" "16263577" "16263577" "subst" "8.43761E-6" "02327" "ABCC6_000562" "g.16263577T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950528" "0" "70" "16" "16272792" "16272792" "subst" "3.27059E-5" "02325" "ABCC6_000082" "g.16272792G>A" "" "" "" "ABCC6(NM_001171.6):c.2278C>T (p.R760W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950529" "0" "30" "16" "16295863" "16295863" "subst" "0.00557184" "02330" "ABCC6_000033" "g.16295863T>C" "" "" "" "ABCC6(NM_001171.5):c.1171A>G (p.(Arg391Gly)), ABCC6(NM_001171.6):c.1171A>G (p.R391G), ABCC6(NM_001351800.1):c.829A>G (p.R277G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957753" "0" "70" "16" "16248830" "16248830" "subst" "3.90229E-5" "00006" "ABCC6_000180" "g.16248830C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.16154973C>T" "" "VUS" "" "0000957754" "0" "70" "16" "16244435" "16244435" "subst" "1.65686E-5" "00006" "ABCC6_000563" "g.16244435C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.16150578C>T" "" "VUS" "" "0000958233" "3" "70" "16" "16245124" "16261530" "del" "0" "00006" "ABCC6_000564" "g.16245124_16261530del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.16151267_16167673del" "" "likely pathogenic (recessive)" "ACMG" "0000958576" "0" "90" "16" "16272792" "16272792" "subst" "3.27059E-5" "00006" "ABCC6_000082" "g.16272792G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.16178935G>A" "" "pathogenic (recessive)" "ACMG" "0000958590" "0" "50" "16" "16284155" "16284155" "subst" "8.12301E-6" "00006" "ABCC6_000565" "g.16284155T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.16190298T>A" "" "VUS" "ACMG" "0000959022" "0" "90" "16" "16256967" "16256967" "subst" "6.09449E-5" "00006" "ABCC6_000135" "g.16256967G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.16163110G>A" "" "pathogenic (recessive)" "ACMG" "0000959068" "0" "50" "16" "16297409" "16297409" "subst" "1.62657E-5" "00006" "ABCC6_000566" "g.16297409C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.16203552C>T" "" "VUS" "ACMG" "0000959205" "0" "90" "16" "16272776" "16272776" "subst" "3.66581E-5" "00006" "ABCC6_000083" "g.16272776C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.16178919C>T" "" "pathogenic (recessive)" "ACMG" "0000959290" "0" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic (recessive)" "ACMG" "0000959293" "0" "90" "16" "16295902" "16295902" "subst" "4.47304E-5" "00006" "ABCC6_000030" "g.16295902G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.16202045G>A" "" "pathogenic (recessive)" "ACMG" "0000968123" "0" "30" "16" "16244077" "16244077" "subst" "0.000281194" "02330" "ABCC6_000567" "g.16244077C>T" "" "" "" "ABCC6(NM_001351800.1):c.4083G>A (p.G1361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968124" "0" "50" "16" "16244463" "16244463" "subst" "0" "02325" "ABCC6_000409" "g.16244463G>A" "" "" "" "ABCC6(NM_001171.6):c.4375C>T (p.R1459C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968129" "0" "50" "16" "16282730" "16282730" "subst" "0" "02325" "ABCC6_000568" "g.16282730C>A" "" "" "" "ABCC6(NM_001171.6):c.1737G>T (p.K579N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981650" "0" "30" "16" "16244584" "16244584" "subst" "0.00708433" "01804" "ABCC6_000206" "g.16244584C>T" "" "" "" "ABCC6(NM_001171.5):c.4254G>A (p.R1418=), ABCC6(NM_001171.6):c.4254G>A (p.R1418=, p.(Arg1418=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981651" "0" "70" "16" "16256941" "16256941" "subst" "4.46838E-5" "01804" "ABCC6_000141" "g.16256941C>T" "" "" "" "ABCC6(NM_001171.6):c.3415G>A (p.(Ala1139Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981652" "0" "50" "16" "16272728" "16272728" "subst" "2.4398E-5" "01804" "ABCC6_000088" "g.16272728G>A" "" "" "" "ABCC6(NM_001171.6):c.2342C>T (p.(Ala781Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981653" "0" "30" "16" "16272751" "16272751" "subst" "0" "02330" "ABCC6_000569" "g.16272751C>T" "" "" "" "ABCC6(NM_001351800.1):c.1977G>A (p.V659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981654" "0" "90" "16" "16276713" "16276713" "subst" "2.46134E-5" "01804" "ABCC6_000070" "g.16276713A>G" "" "" "" "ABCC6(NM_001171.6):c.2018T>C (p.(Leu673Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981655" "0" "90" "16" "16278794" "16278871" "del" "0" "02330" "ABCC6_000570" "g.16278794_16278871del" "" "" "" "ABCC6(NM_001351800.1):c.1550_1601+26del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981656" "0" "50" "16" "16302649" "16302649" "subst" "0" "01804" "ABCC6_000571" "g.16302649A>C" "" "" "" "ABCC6(NM_001171.6):c.730T>G (p.(Ser244Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981657" "0" "50" "16" "16308284" "16308284" "subst" "0" "02325" "ABCC6_000572" "g.16308284C>A" "" "" "" "ABCC6(NM_001171.6):c.497G>T (p.R166L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981658" "0" "30" "16" "16315428" "16315428" "subst" "0.000597479" "02330" "ABCC6_000573" "g.16315428A>G" "" "" "" "ABCC6(NM_001079528.4):c.297T>C (p.S99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984930" "0" "90" "16" "16306105" "16306105" "subst" "0" "03779" "ABCC6_000574" "g.16306105T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1555520991" "0" "" "" "" "" "pathogenic" "" "0000989439" "0" "90" "16" "16248589" "16248589" "del" "2.05153E-5" "03779" "ABCC6_000198" "g.16248589del" "" "" "" "" "" "CLASSIFICATION record" "" "rs72664237" "0" "" "" "" "" "pathogenic" "" "0001001946" "0" "50" "16" "16248540" "16248540" "subst" "0" "01804" "ABCC6_000575" "g.16248540C>G" "" "" "" "ABCC6(NM_001171.5):c.4153G>C (p.(Ala1385Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001947" "0" "50" "16" "16248635" "16248635" "subst" "0" "01804" "ABCC6_000576" "g.16248635G>A" "" "" "" "ABCC6(NM_001171.5):c.4058C>T (p.(Pro1353Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001948" "0" "50" "16" "16248792" "16248792" "subst" "0.000137685" "01804" "ABCC6_000436" "g.16248792C>T" "" "" "" "ABCC6(NM_001171.5):c.3979G>A (p.G1327R, p.(Gly1327Arg)), ABCC6(NM_001351800.1):c.3637G>A (p.G1213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001949" "0" "30" "16" "16251549" "16251549" "subst" "2.03194E-5" "01804" "ABCC6_000577" "g.16251549C>T" "" "" "" "ABCC6(NM_001171.5):c.3853G>A (p.(Val1285Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001950" "0" "50" "16" "16255300" "16255300" "subst" "4.06851E-6" "01804" "ABCC6_000578" "g.16255300G>C" "" "" "" "ABCC6(NM_001171.5):c.3628C>G (p.(Leu1210Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001951" "0" "90" "16" "16256865" "16256865" "subst" "2.43801E-5" "02327" "ABCC6_000145" "g.16256865C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001952" "0" "50" "16" "16256975" "16256975" "subst" "8.12539E-6" "02327" "ABCC6_000134" "g.16256975C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001953" "0" "90" "16" "16259698" "16259698" "subst" "2.03333E-5" "01804" "ABCC6_000119" "g.16259698G>A" "" "" "" "ABCC6(NM_001171.5):c.3088C>T (p.(Arg1030*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001954" "0" "50" "16" "16259770" "16259770" "subst" "4.10132E-6" "01804" "ABCC6_000579" "g.16259770T>A" "" "" "" "ABCC6(NM_001171.5):c.3016A>T (p.(Met1006Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001955" "0" "30" "16" "16267147" "16267147" "subst" "0.000597294" "02327" "ABCC6_000481" "g.16267147G>A" "" "" "" "ABCC6(NM_001171.5):c.2781C>T (p.Y927=), ABCC6(NM_001171.6):c.2781C>T (p.Y927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001956" "0" "50" "16" "16271387" "16271387" "subst" "0" "01804" "ABCC6_000580" "g.16271387G>C" "" "" "" "ABCC6(NM_001171.5):c.2512C>G (p.(Gln838Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001957" "0" "50" "16" "16272711" "16272711" "subst" "0.000614746" "01804" "ABCC6_000484" "g.16272711C>T" "" "" "" "ABCC6(NM_001171.5):c.2359G>A (p.V787I, p.(Val787Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001958" "0" "70" "16" "16272823" "16272824" "del" "0" "01804" "ABCC6_000347" "g.16272823_16272824del" "" "" "" "ABCC6(NM_001171.5):c.2248-2_2248-1delAG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001959" "0" "50" "16" "16276279" "16276279" "subst" "4.46686E-5" "02327" "ABCC6_000581" "g.16276279A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001960" "0" "90" "16" "16282764" "16282764" "subst" "0.000121904" "01804" "ABCC6_000053" "g.16282764A>G" "" "" "" "ABCC6(NM_001171.5):c.1703T>C (p.(Phe568Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001961" "0" "90" "16" "16284103" "16284103" "subst" "8.53221E-5" "01804" "ABCC6_000048" "g.16284103C>T" "" "" "" "ABCC6(NM_001171.5):c.1553G>A (p.(Arg518Gln)), ABCC6(NM_001351800.1):c.1211G>A (p.R404Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001962" "0" "30" "16" "16286736" "16286736" "subst" "4.06256E-6" "02327" "ABCC6_000582" "g.16286736C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001963" "0" "30" "16" "16286764" "16286764" "subst" "2.03292E-5" "01804" "ABCC6_000583" "g.16286764C>T" "" "" "" "ABCC6(NM_001171.5):c.1354G>A (p.(Ala452Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001964" "0" "30" "16" "16291932" "16291932" "subst" "0.00238568" "02327" "ABCC6_000458" "g.16291932G>A" "" "" "" "ABCC6(NM_001171.6):c.1284C>T (p.N428=), ABCC6(NM_001351800.1):c.942C>T (p.N314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001965" "0" "50" "16" "16295926" "16295926" "subst" "0.000321206" "01804" "ABCC6_000028" "g.16295926T>C" "" "" "" "ABCC6(NM_001171.5):c.1108A>G (p.N370D, p.(Asn370Asp)), ABCC6(NM_001351800.1):c.766A>G (p.N256D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001966" "0" "50" "16" "16295926" "16295926" "subst" "0.000321206" "02327" "ABCC6_000028" "g.16295926T>C" "" "" "" "ABCC6(NM_001171.5):c.1108A>G (p.N370D, p.(Asn370Asp)), ABCC6(NM_001351800.1):c.766A>G (p.N256D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001967" "0" "10" "16" "16302586" "16302586" "subst" "0.042575" "02327" "ABCC6_000015" "g.16302586T>C" "" "" "" "ABCC6(NM_001171.6):c.793A>G (p.R265G), ABCC6(NM_001351800.1):c.451A>G (p.R151G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001968" "0" "30" "16" "16308201" "16308201" "subst" "0.000239405" "01804" "ABCC6_000584" "g.16308201G>A" "" "" "" "ABCC6(NM_001171.5):c.580C>T (p.(Pro194Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001969" "0" "30" "16" "16313412" "16313412" "subst" "0" "02327" "ABCC6_000006" "g.16313412G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001970" "0" "50" "16" "16313539" "16313539" "subst" "0" "01804" "ABCC6_000585" "g.16313539T>C" "" "" "" "ABCC6(NM_001171.5):c.346A>G (p.(Ser116Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001971" "0" "50" "16" "16315528" "16315528" "subst" "4.0664E-6" "01804" "ABCC6_000586" "g.16315528G>A" "" "" "" "ABCC6(NM_001171.5):c.197C>T (p.(Ser66Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001972" "0" "50" "16" "16315534" "16315534" "subst" "0" "02327" "ABCC6_000415" "g.16315534C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015306" "0" "50" "16" "16248588" "16248588" "subst" "0.000209257" "02325" "ABCC6_000433" "g.16248588C>T" "" "" "" "ABCC6(NM_001171.5):c.4105G>A (p.(Glu1369Lys)), ABCC6(NM_001171.6):c.4105G>A (p.E1369K), ABCC6(NM_001351800.1):c.3763G>A (p.E1255K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026578" "0" "30" "16" "16256934" "16256934" "subst" "0.000495564" "02330" "ABCC6_000587" "g.16256934C>T" "" "" "" "ABCC6(NM_001351800.1):c.3080G>A (p.R1027Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040830" "0" "50" "16" "16244435" "16244435" "subst" "1.65686E-5" "01804" "ABCC6_000563" "g.16244435C>T" "" "" "" "ABCC6(NM_001171.6):c.4403G>A (p.(Arg1468Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040831" "0" "50" "16" "16253383" "16253383" "subst" "1.62454E-5" "01804" "ABCC6_000588" "g.16253383C>T" "" "" "" "ABCC6(NM_001171.6):c.3691G>A (p.(Val1231Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040832" "0" "90" "16" "16253412" "16253412" "subst" "2.0307E-5" "01804" "ABCC6_000148" "g.16253412C>T" "" "" "" "ABCC6(NM_001171.6):c.3662G>A (p.(Arg1221His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040833" "0" "50" "16" "16255324" "16255324" "subst" "2.84701E-5" "01804" "ABCC6_000589" "g.16255324C>T" "" "" "" "ABCC6(NM_001171.6):c.3604G>A (p.(Val1202Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040834" "0" "90" "16" "16271467" "16271467" "subst" "2.84317E-5" "01804" "ABCC6_000094" "g.16271467G>A" "" "" "" "ABCC6(NM_001171.6):c.2432C>T (p.(Thr811Met)), ABCC6(NM_001351800.1):c.2090C>T (p.T697M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040835" "0" "50" "16" "16276370" "16276370" "subst" "0" "01804" "ABCC6_000590" "g.16276370C>T" "" "" "" "ABCC6(NM_001171.6):c.2146G>A (p.(Glu716Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040836" "0" "50" "16" "16276391" "16276391" "subst" "8.9343E-5" "01804" "ABCC6_000450" "g.16276391C>T" "" "" "" "ABCC6(NM_001171.6):c.2125G>A (p.E709K, p.(Glu709Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040837" "0" "50" "16" "16276682" "16276682" "subst" "6.15324E-5" "01804" "ABCC6_000591" "g.16276682C>T" "" "" "" "ABCC6(NM_001171.6):c.2049G>A (p.(Val683=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040838" "0" "50" "16" "16276741" "16276741" "subst" "0.000442986" "01804" "ABCC6_000065" "g.16276741G>A" "" "" "" "ABCC6(NM_001171.6):c.1990C>T (p.(Pro664Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040839" "0" "50" "16" "16286694" "16286694" "subst" "0.000248" "01804" "ABCC6_000491" "g.16286694T>A" "" "" "" "ABCC6(NM_001171.5):c.1424A>T (p.H475L), ABCC6(NM_001171.6):c.1424A>T (p.(His475Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040840" "0" "30" "16" "16297424" "16297424" "subst" "0" "01804" "ABCC6_000016" "g.16297424T>C" "" "" "" "ABCC6(NM_001171.6):c.841A>G (p.(Lys281Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040841" "0" "50" "16" "16302719" "16302719" "subst" "0.000724477" "01804" "ABCC6_000546" "g.16302719G>A" "" "" "" "ABCC6(NM_001171.6):c.663-3C>T, ABCC6(NM_001351800.1):c.321-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046535" "0" "90" "16" "16302640" "16302640" "subst" "0" "02325" "ABCC6_000592" "g.16302640C>A" "" "" "" "ABCC6(NM_001171.6):c.739G>T (p.E247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055456" "0" "50" "16" "16248851" "16248851" "subst" "5.97086E-6" "01804" "ABCC6_000593" "g.16248851G>A" "" "" "" "ABCC6(NM_001171.6):c.3920C>T (p.(Ser1307Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055457" "0" "50" "16" "16251583" "16251583" "subst" "0" "02327" "ABCC6_000594" "g.16251583T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055458" "0" "10" "16" "16251599" "16251599" "subst" "0.250967" "01804" "ABCC6_000164" "g.16251599C>T" "" "" "" "ABCC6(NM_001171.6):c.3803G>A (p.R1268Q, p.(Arg1268Gln)), ABCC6(NM_001351800.1):c.3461G>A (p.R1154Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001055459" "0" "90" "16" "16253413" "16253413" "subst" "1.62464E-5" "01804" "ABCC6_000147" "g.16253413G>A" "" "" "" "ABCC6(NM_001171.6):c.3661C>T (p.(Arg1221Cys)), ABCC6(NM_001351800.1):c.3319C>T (p.R1107C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055460" "0" "50" "16" "16259742" "16259742" "subst" "1.22422E-5" "01804" "ABCC6_000595" "g.16259742C>T" "" "" "" "ABCC6(NM_001171.6):c.3044G>A (p.(Arg1015Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055461" "0" "30" "16" "16286694" "16286694" "subst" "0.000248" "02327" "ABCC6_000491" "g.16286694T>A" "" "" "" "ABCC6(NM_001171.5):c.1424A>T (p.H475L), ABCC6(NM_001171.6):c.1424A>T (p.(His475Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055462" "0" "30" "16" "16313792" "16313792" "subst" "0.000508808" "02327" "ABCC6_000408" "g.16313792C>T" "" "" "" "ABCC6(NM_001171.5):c.232G>A (p.A78T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055463" "0" "30" "16" "16315548" "16315548" "subst" "2.44083E-5" "02327" "ABCC6_000596" "g.16315548G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001060873" "0" "50" "16" "16295863" "16295863" "subst" "0.00557184" "00006" "ABCC6_000033" "g.16295863T>C" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PM1, PP3, PP2, BS3; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.16202006T>C" "" "VUS" "ACMG" "0001066427" "0" "50" "16" "16248816" "16248816" "subst" "0" "02325" "chr16_007712" "g.16248816C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066428" "0" "50" "16" "16256868" "16256868" "subst" "8.12532E-6" "02325" "chr16_007713" "g.16256868G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066429" "0" "90" "16" "16256935" "16256935" "subst" "0.00137701" "02325" "ABCC6_000142" "g.16256935G>A" "" "" "" "ABCC6(NM_001171.5):c.3421C>T (p.R1141*, p.(Arg1141*)), ABCC6(NM_001351800.1):c.3079C>T (p.R1027*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001066430" "0" "50" "16" "16272735" "16272735" "subst" "8.13048E-6" "01804" "chr16_007714" "g.16272735G>T" "" "" "" "ABCC6(NM_001171.6):c.2335C>A (p.(Pro779Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 ABCC6 ## Count = 1792 "{{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}}" "0000013531" "00000864" "30" "1431" "325" "1431" "325" "c.1431+325G>A" "r.(=)" "p.(=)" "11i" "0000013532" "00000864" "30" "1338" "251" "1338" "251" "c.1338+251C>T" "r.(=)" "p.(=)" "10i" "0000079435" "00000864" "00" "-71169" "0" "753798" "0" "c.-71169_*749286del" "r.?" "p.?" "" "0000079471" "00000864" "00" "-243860" "0" "1443121" "0" "c.-243860_*1438609dup" "r.?" "p.?" "" "0000140003" "00000864" "50" "37" "-1" "37" "-1" "c.37-1G>A" "r.(=)" "p.?" "1i" "0000140004" "00000864" "50" "105" "0" "105" "0" "c.105del" "r.(?)" "p.(Val37Serfs*44)" "2" "0000140005" "00000864" "50" "113" "0" "113" "0" "c.113G>C" "r.(?)" "p.(Trp38Ser)" "2" "0000140008" "00000864" "50" "220" "-1" "220" "-1" "c.220-1G>C" "r.spl" "p.?" "2i" "0000140009" "00000864" "50" "220" "0" "222" "0" "c.220_222del" "r.(?)" "p.(Val74del)" "3" "0000140010" "00000864" "50" "345" "26" "345" "26" "c.345+26C>T" "r.(=)" "p.(=)" "3i" "0000140011" "00000864" "50" "346" "-6" "346" "-6" "c.346-6G>A" "r.(=)" "p.(=)" "3i" "0000140012" "00000864" "50" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Gly129Glu)" "4" "0000140013" "00000864" "50" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Ala158Val)" "4" "0000140014" "00000864" "50" "475" "-45" "475" "-45" "c.475-45C>T" "r.(=)" "p.(=)" "4i" "0000140015" "00000864" "50" "549" "0" "549" "0" "c.549G>A" "r.(?)" "p.(=)" "5" "0000140016" "00000864" "50" "600" "23" "600" "23" "c.600+23C>T" "r.(=)" "p.(=)" "5i" "0000140017" "00000864" "50" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Gly207Arg)" "6" "0000140019" "00000864" "50" "654" "0" "654" "0" "c.654G>T" "r.(?)" "p.(Trp218Cys)" "6" "0000140025" "00000864" "50" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Gly226Arg)" "7" "0000140026" "00000864" "50" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Glu242*)" "7" "0000140027" "00000864" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Leu248Phe)" "7" "0000140028" "00000864" "50" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Leu252Phe)" "7" "0000140029" "00000864" "50" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Arg265Gly)" "7" "0000140030" "00000864" "50" "841" "0" "841" "0" "c.841A>G" "r.(?)" "p.(Lys281Glu)" "8" "0000140031" "00000864" "50" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(=)" "8" "0000140032" "00000864" "50" "865" "0" "889" "0" "c.865_889del" "r.(?)" "p.(Leu289Alafs*4)" "8" "0000140033" "00000864" "50" "938" "0" "938" "0" "c.938dup" "r.(?)" "p.(Thr315Aspfs*8)" "8" "0000140034" "00000864" "50" "951" "0" "951" "0" "c.951C>A" "r.(?)" "p.(Ser317Arg)" "8" "0000140035" "00000864" "50" "951" "0" "951" "0" "c.951C>G" "r.(?)" "p.(Ser317Arg)" "8" "0000140036" "00000864" "50" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Ile319Val)" "8" "0000140037" "00000864" "50" "960" "0" "960" "0" "c.960del" "r.(?)" "p.(Ser321Valfs*35)" "8" "0000140038" "00000864" "50" "998" "2" "998" "2" "c.998+2del" "r.(spl?)" "p.?" "8i" "0000140039" "00000864" "50" "998" "2" "998" "3" "c.998+2_998+3del" "r.(spl?)" "p.?" "8i" "0000140040" "00000864" "50" "1064" "0" "1064" "0" "c.1064T>G" "r.(?)" "p.(Leu355Arg)" "9" "0000140041" "00000864" "50" "1077" "0" "1077" "0" "c.1077A>G" "r.(?)" "p.(=)" "9" "0000140042" "00000864" "50" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Gln363*)" "9" "0000140045" "00000864" "50" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Asn370Asp)" "9" "0000140046" "00000864" "50" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000140047" "00000864" "50" "1141" "0" "1141" "0" "c.1141T>C" "r.(?)" "p.(=)" "9" "0000140048" "00000864" "50" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Arg382Trp)" "9" "0000140049" "00000864" "50" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "9" "0000140050" "00000864" "50" "1176" "0" "1176" "0" "c.1176G>C" "r.(?)" "p.(Lys392Asn)" "9" "0000140051" "00000864" "50" "1176" "6" "1176" "6" "c.1176+6C>T" "r.(spl?)" "p.(=)" "9i" "0000140052" "00000864" "50" "179" "-195" "179" "-195" "c.179-195del" "r.(=)" "p.(=)" "1i" "0000140053" "00000864" "50" "1192" "0" "1192" "0" "c.1192A>G" "r.(?)" "p.(Ser398Gly)" "10" "0000140054" "00000864" "50" "1233" "0" "1233" "0" "c.1233T>G" "r.(?)" "p.(Asn411Lys)" "10" "0000140055" "00000864" "50" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Val415Ala)" "10" "0000140056" "00000864" "50" "1245" "0" "1245" "0" "c.1245G>A" "r.(?)" "p.(=)" "10" "0000140057" "00000864" "50" "1318" "0" "1318" "0" "c.1318T>G" "r.(?)" "p.(Cys440Gly)" "10" "0000140058" "00000864" "50" "1338" "7" "1338" "7" "c.1338+7C>G" "r.(=)" "p.(=)" "10i" "0000140059" "00000864" "50" "1338" "20" "1338" "20" "c.1338+20C>G" "r.(=)" "p.(=)" "10i" "0000140060" "00000864" "50" "1338" "62" "1338" "62" "c.1338+62G>C" "r.(=)" "p.(=)" "10i" "0000140061" "00000864" "50" "1338" "1383" "1338" "1383" "c.1338+1383T>C" "r.(=)" "p.(=)" "10i" "0000140062" "00000864" "50" "1338" "1501" "1338" "1501" "c.1338+1501G>A" "r.(=)" "p.(=)" "10i" "0000140063" "00000864" "50" "1338" "1548" "1338" "1548" "c.1338+1548C>T" "r.(=)" "p.(=)" "10i" "0000140064" "00000864" "50" "1338" "2152" "1338" "2152" "c.1338+2152G>T" "r.(=)" "p.(=)" "10i" "0000140065" "00000864" "50" "1338" "2281" "1338" "2281" "c.1338+2281A>C" "r.(=)" "p.(=)" "10i" "0000140066" "00000864" "50" "1338" "2346" "1338" "2346" "c.1338+2346A>G" "r.(=)" "p.(=)" "10i" "0000140067" "00000864" "50" "1339" "-2347" "1339" "-2347" "c.1339-2347C>G" "r.(=)" "p.(=)" "10i" "0000140068" "00000864" "50" "1339" "-1977" "1339" "-1977" "c.1339-1977G>A" "r.(=)" "p.(=)" "10i" "0000140069" "00000864" "50" "1363" "0" "1363" "0" "c.1363G>C" "r.(?)" "p.(Ala455Pro)" "11" "0000140070" "00000864" "50" "1388" "0" "1388" "0" "c.1388T>A" "r.(?)" "p.(Leu463His)" "11" "0000140071" "00000864" "50" "1431" "73" "1431" "73" "c.1431+73G>C" "r.(=)" "p.(=)" "11i" "0000140072" "00000864" "50" "1432" "-215" "1432" "-215" "c.1432-215A>G" "r.(=)" "p.(=)" "11i" "0000140073" "00000864" "50" "1432" "-48" "1432" "-48" "c.1432-48G>A" "r.(=)" "p.(=)" "11i" "0000140074" "00000864" "50" "1432" "-45" "1432" "-45" "c.1432-45C>A" "r.(=)" "p.(=)" "11i" "0000140075" "00000864" "50" "1432" "-41" "1432" "-41" "c.1432-41A>G" "r.(=)" "p.(=)" "11i" "0000140076" "00000864" "50" "1432" "-22" "1432" "-22" "c.1432-22C>A" "r.(=)" "p.(=)" "11i" "0000140077" "00000864" "50" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487Gln)" "12" "0000140078" "00000864" "50" "1484" "0" "1484" "0" "c.1484T>A" "r.(?)" "p.(Leu495His)" "12" "0000140079" "00000864" "50" "1491" "0" "1491" "0" "c.1491C>A" "r.(?)" "p.(Asn497Lys)" "12" "0000140080" "00000864" "50" "1505" "0" "1505" "0" "c.1505A>T" "r.(?)" "p.(Lys502Met)" "12" "0000140081" "00000864" "50" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Val514Ile)" "12" "0000140082" "00000864" "50" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518*)" "12" "0000140083" "00000864" "50" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000140084" "00000864" "50" "1575" "0" "1575" "0" "c.1575dup" "r.(?)" "p.(Arg526Alafs*74)" "12" "0000140085" "00000864" "50" "1603" "0" "1603" "0" "c.1603T>C" "r.(?)" "p.(Ser535Pro)" "12" "0000140086" "00000864" "50" "1636" "-240" "1636" "-240" "c.1636-240G>A" "r.(=)" "p.(=)" "12i" "0000140087" "00000864" "50" "1636" "-112" "1636" "-112" "c.1636-112C>T" "r.(=)" "p.(=)" "12i" "0000140088" "00000864" "50" "1652" "0" "1652" "0" "c.1652T>C" "r.(?)" "p.(Phe551Ser)" "13" "0000140089" "00000864" "50" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Met562Thr)" "13" "0000140090" "00000864" "50" "1703" "0" "1703" "0" "c.1703T>C" "r.(?)" "p.(Phe568Ser)" "13" "0000140091" "00000864" "50" "1779" "381" "1779" "381" "c.1779+381C>T" "r.(=)" "p.(=)" "13i" "0000140092" "00000864" "50" "1780" "-86" "1780" "-86" "c.1780-86G>T" "r.(=)" "p.(=)" "13i" "0000140093" "00000864" "50" "1780" "-29" "1780" "-29" "c.1780-29T>A" "r.(=)" "p.(=)" "13i" "0000140094" "00000864" "50" "1781" "0" "1781" "0" "c.1781C>T" "r.(?)" "p.(Ala594Val)" "14" "0000140095" "00000864" "50" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(Arg600Cys)" "14" "0000140096" "00000864" "50" "1838" "0" "1838" "0" "c.1838T>G" "r.(?)" "p.?" "14" "0000140097" "00000864" "50" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Val614Ala)" "14" "0000140098" "00000864" "50" "1857" "0" "1857" "0" "c.1857dup" "r.(?)" "p.(Ser620Leufs*121)" "14" "0000140099" "00000864" "50" "1867" "60" "1867" "60" "c.1867+60A>G" "r.(=)" "p.(=)" "14i" "0000140100" "00000864" "50" "1867" "205" "1867" "205" "c.1867+205C>G" "r.(=)" "p.(=)" "14i" "0000140101" "00000864" "50" "1867" "576" "1867" "576" "c.1867+576G>A" "r.(=)" "p.(=)" "14i" "0000140102" "00000864" "50" "1868" "-823" "1868" "-823" "c.1868-823C>T" "r.(=)" "p.(=)" "14i" "0000140103" "00000864" "50" "1868" "-392" "1868" "-392" "c.1868-392C>T" "r.(=)" "p.(=)" "14i" "0000140104" "00000864" "50" "1868" "-157" "1868" "-157" "c.1868-157C>G" "r.(=)" "p.(=)" "14i" "0000140105" "00000864" "50" "1868" "-85" "1868" "-85" "c.1868-85del" "r.(=)" "p.(=)" "14i" "0000140106" "00000864" "50" "1868" "-90" "1868" "-90" "c.1868-90G>T" "r.(=)" "p.(=)" "14i" "0000140107" "00000864" "50" "1868" "-57" "1868" "-57" "c.1868-57G>A" "r.(=)" "p.(=)" "14i" "0000140108" "00000864" "50" "1868" "-5" "1868" "-5" "c.1868-5T>G" "r.(=)" "p.?" "14i" "0000140109" "00000864" "50" "1890" "0" "1890" "0" "c.1890C>G" "r.(?)" "p.(=)" "15" "0000140110" "00000864" "50" "1896" "0" "1896" "0" "c.1896C>A" "r.(?)" "p.(His632Gln)" "15" "0000140111" "00000864" "50" "1943" "121" "1943" "121" "c.1943+121T>A" "r.(=)" "p.(=)" "15i" "0000140112" "00000864" "50" "1943" "766" "1943" "766" "c.1943+766G>A" "r.(=)" "p.(=)" "15i" "0000140113" "00000864" "50" "1944" "-898" "1944" "-898" "c.1944-898C>T" "r.(=)" "p.(=)" "15i" "0000140114" "00000864" "50" "1944" "-177" "1944" "-177" "c.1944-177G>A" "r.(=)" "p.(=)" "15i" "0000140115" "00000864" "50" "1944" "0" "1965" "0" "c.1944_1965del" "r.(?)" "p.(Ile649Alafs*32)" "16" "0000140116" "00000864" "50" "1964" "0" "1964" "0" "c.1964A>G" "r.(?)" "p.(Gln655Arg)" "16" "0000140117" "00000864" "50" "1967" "0" "1989" "0" "c.1967_1989del" "r.(?)" "p.(Gly656Alafs*77)" "16" "0000140118" "00000864" "50" "1987" "0" "1987" "0" "c.1987G>T" "r.(?)" "p.(Gly663Cys)" "16" "0000140119" "00000864" "50" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Pro664Ser)" "16" "0000140120" "00000864" "50" "1994" "0" "1994" "0" "c.1994T>C" "r.(?)" "p.(Val665Ala)" "16" "0000140122" "00000864" "50" "1996" "0" "1996" "0" "c.1996G>T" "r.(?)" "p.(Gly666Trp)" "16" "0000140123" "00000864" "50" "1999" "0" "1999" "0" "c.1999del" "r.(?)" "p.(Ala667Glnfs*21)" "16" "0000140124" "00000864" "50" "2018" "0" "2018" "0" "c.2018T>C" "r.(?)" "p.(Leu673Pro)" "16" "0000140125" "00000864" "50" "2030" "0" "2030" "0" "c.2030T>C" "r.(?)" "p.(Leu677Pro)" "16" "0000140126" "00000864" "50" "2070" "5" "2070" "5" "c.2070+5G>A" "r.(spl?)" "p.?" "16i" "0000140127" "00000864" "50" "2093" "0" "2093" "0" "c.2093A>C" "r.(?)" "p.(Gln698Pro)" "17" "0000140128" "00000864" "50" "2097" "0" "2097" "0" "c.2097G>T" "r.(?)" "p.(Glu699Asp)" "17" "0000140129" "00000864" "50" "2162" "0" "2162" "0" "c.2162G>A" "r.(?)" "p.(Trp721*)" "17" "0000140130" "00000864" "50" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "17" "0000140131" "00000864" "50" "2175" "0" "2175" "0" "c.2175A>T" "r.(?)" "p.(=)" "17" "0000140132" "00000864" "50" "2177" "0" "2177" "0" "c.2177T>C" "r.(?)" "p.(Leu726Pro)" "17" "0000140133" "00000864" "50" "2224" "0" "2224" "0" "c.2224A>G" "r.(?)" "p.(Ile742Val)" "17" "0000140134" "00000864" "50" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Gln749*)" "17" "0000140135" "00000864" "50" "2247" "22" "2247" "22" "c.2247+22T>G" "r.(=)" "p.(=)" "17i" "0000140136" "00000864" "50" "2247" "302" "2247" "302" "c.2247+302C>T" "r.(=)" "p.(=)" "17i" "0000140137" "00000864" "50" "2247" "857" "2247" "857" "c.2247+857C>T" "r.(=)" "p.(=)" "17i" "0000140138" "00000864" "50" "2248" "-1384" "2248" "-1384" "c.2248-1384G>C" "r.(=)" "p.(=)" "17i" "0000140139" "00000864" "50" "2248" "-552" "2248" "-552" "c.2248-552G>A" "r.(=)" "p.(=)" "17i" "0000140140" "00000864" "50" "2248" "-12" "2248" "-11" "c.2248-12_2248-11del" "r.(=)" "p.(=)" "17i" "0000140141" "00000864" "50" "2248" "-2" "2248" "-1" "c.2248-2_2248-1del" "r.spl" "p.?" "17i" "0000140142" "00000864" "50" "2252" "0" "2252" "0" "c.2252T>A" "r.(?)" "p.(Met751Lys)" "18" "0000140143" "00000864" "50" "2263" "0" "2263" "0" "c.2263G>A" "r.(?)" "p.(Gly755Arg)" "18" "0000140144" "00000864" "50" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Trp)" "18" "0000140145" "00000864" "50" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Arg765Gln)" "18" "0000140146" "00000864" "50" "2297" "0" "2297" "0" "c.2297C>A" "r.(?)" "p.(Ala766Asp)" "18" "0000140147" "00000864" "50" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Tyr768*)" "18" "0000140148" "00000864" "50" "2323" "0" "2323" "0" "c.2323del" "r.(?)" "p.(Leu775Cysfs*36)" "18" "0000140149" "00000864" "50" "2329" "0" "2329" "0" "c.2329G>A" "r.(?)" "p.(Asp777Asn)" "18" "0000140150" "00000864" "50" "2342" "0" "2342" "0" "c.2342C>T" "r.(?)" "p.(Ala781Val)" "18" "0000140151" "00000864" "50" "2359" "0" "2359" "0" "c.2359G>T" "r.(?)" "p.(Val787Phe)" "18" "0000140152" "00000864" "50" "2400" "0" "2400" "0" "c.2400A>G" "r.(?)" "p.(=)" "18" "0000140153" "00000864" "50" "2415" "147" "2415" "147" "c.2415+147C>T" "r.(=)" "p.(=)" "18i" "0000140154" "00000864" "50" "2416" "-1" "2416" "0" "c.2416-1_2416del" "r.spl" "p.?" "18i" "0000140155" "00000864" "50" "2419" "0" "2419" "0" "c.2419C>T" "r.(?)" "p.(Arg807Trp)" "19" "0000140156" "00000864" "50" "2420" "0" "2420" "0" "c.2420G>A" "r.(?)" "p.(Arg807Gln)" "19" "0000140157" "00000864" "50" "2428" "0" "2428" "0" "c.2428G>A" "r.(?)" "p.(Val810Met)" "19" "0000140158" "00000864" "50" "2432" "0" "2432" "0" "c.2432C>T" "r.(?)" "p.(Thr811Met)" "19" "0000140159" "00000864" "50" "2458" "0" "2458" "0" "c.2458G>C" "r.(?)" "p.(Ala820Pro)" "19" "0000140160" "00000864" "50" "2477" "0" "2477" "0" "c.2477T>C" "r.(?)" "p.(Leu826Pro)" "19" "0000140161" "00000864" "50" "2490" "0" "2490" "0" "c.2490C>T" "r.(?)" "p.(=)" "19" "0000140162" "00000864" "50" "2511" "0" "2511" "0" "c.2511C>A" "r.(?)" "p.(Tyr837*)" "19" "0000140163" "00000864" "50" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Gln842*)" "19" "0000140164" "00000864" "50" "2542" "0" "2542" "0" "c.2542A>G" "r.(?)" "p.(Met848Val)" "19" "0000140165" "00000864" "50" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.?" "19" "0000140166" "00000864" "50" "2552" "0" "2552" "0" "c.2552T>C" "r.(?)" "p.(Leu851Pro)" "19" "0000140167" "00000864" "50" "2590" "405" "2590" "405" "c.2590+405G>A" "r.(=)" "p.(=)" "19i" "0000140168" "00000864" "50" "2590" "459" "2590" "459" "c.2590+459G>A" "r.(=)" "p.(=)" "19i" "0000140169" "00000864" "50" "2591" "-331" "2591" "-331" "c.2591-331A>G" "r.(=)" "p.(=)" "19i" "0000140170" "00000864" "50" "2591" "-203" "2591" "-203" "c.2591-203T>C" "r.(=)" "p.(=)" "19i" "0000140171" "00000864" "50" "2591" "-119" "2591" "-119" "c.2591-119C>T" "r.(=)" "p.(=)" "19i" "0000140172" "00000864" "50" "2631" "0" "2631" "0" "c.2631C>A" "r.(?)" "p.(=)" "20" "0000140173" "00000864" "50" "2643" "0" "2643" "0" "c.2643G>T" "r.(?)" "p.(Arg881Ser)" "20" "0000140175" "00000864" "50" "2666" "139" "2666" "139" "c.2666+139G>A" "r.spl" "p.?" "20i" "0000140176" "00000864" "50" "2666" "198" "2666" "198" "c.2666+198T>C" "r.(=)" "p.(=)" "20i" "0000140177" "00000864" "50" "2666" "499" "2666" "499" "c.2666+499C>T" "r.(=)" "p.(=)" "20i" "0000140178" "00000864" "50" "2666" "900" "2666" "900" "c.2666+900C>T" "r.(=)" "p.(=)" "20i" "0000140179" "00000864" "50" "2695" "0" "2695" "0" "c.2695C>G" "r.(?)" "p.(Arg899Gly)" "21" "0000140180" "00000864" "50" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "21i" "0000140181" "00000864" "50" "2787" "30" "2787" "30" "c.2787+30G>A" "r.(=)" "p.(=)" "21i" "0000140182" "00000864" "50" "2787" "62" "2787" "62" "c.2787+62T>C" "r.(=)" "p.(=)" "21i" "0000140183" "00000864" "50" "2787" "1427" "2787" "1427" "c.2787+1427C>G" "r.(=)" "p.(=)" "21i" "0000140184" "00000864" "50" "2787" "1580" "2787" "1580" "c.2787+1580G>T" "r.(=)" "p.(=)" "21i" "0000140185" "00000864" "50" "2788" "-706" "2788" "-706" "c.2788-706T>C" "r.(=)" "p.(=)" "21i" "0000140186" "00000864" "50" "2788" "-388" "2788" "-388" "c.2788-388A>C" "r.(=)" "p.(=)" "21i" "0000140187" "00000864" "50" "2788" "-127" "2788" "-127" "c.2788-127A>G" "r.(=)" "p.(=)" "21i" "0000140188" "00000864" "50" "2814" "0" "2814" "0" "c.2814C>G" "r.(?)" "p.(Tyr938*)" "22" "0000140189" "00000864" "50" "2819" "0" "2820" "0" "c.2819_2820insC" "r.(?)" "p.(Ala941Cysfs*97)" "22" "0000140190" "00000864" "50" "2820" "0" "2820" "0" "c.2820T>G" "r.(?)" "p.(=)" "22" "0000140191" "00000864" "50" "2831" "0" "2831" "0" "c.2831C>T" "r.(?)" "p.(Thr944Ile)" "22" "0000140192" "00000864" "50" "2835" "0" "2835" "0" "c.2835C>T" "r.(?)" "p.(=)" "22" "0000140194" "00000864" "50" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000140195" "00000864" "50" "2848" "0" "2848" "0" "c.2848G>A" "r.(?)" "p.(Ala950Thr)" "22" "0000140196" "00000864" "50" "2855" "0" "2855" "0" "c.2855T>G" "r.(?)" "p.(Phe952Cys)" "22" "0000140197" "00000864" "50" "2858" "0" "2858" "0" "c.2858T>A" "r.(?)" "p.(Leu953His)" "22" "0000140198" "00000864" "50" "2891" "0" "2891" "0" "c.2891G>C" "r.(?)" "p.(Arg964Pro)" "22" "0000140199" "00000864" "50" "2904" "0" "2904" "0" "c.2904G>A" "r.(?)" "p.(=)" "22" "0000140200" "00000864" "50" "2974" "0" "2974" "0" "c.2974G>C" "r.(?)" "p.(Gly992Arg)" "22" "0000140201" "00000864" "50" "2995" "142" "2995" "142" "c.2995+142C>T" "r.(=)" "p.(=)" "22i" "0000140202" "00000864" "50" "2995" "931" "2995" "931" "c.2995+931C>T" "r.(=)" "p.(=)" "22i" "0000140203" "00000864" "50" "2995" "1329" "2995" "1329" "c.2995+1329G>A" "r.(=)" "p.(=)" "22i" "0000140204" "00000864" "50" "2996" "-1461" "2996" "-1461" "c.2996-1461G>A" "r.(=)" "p.(=)" "22i" "0000140205" "00000864" "50" "2996" "-1380" "2996" "-1380" "c.2996-1380C>G" "r.(=)" "p.(=)" "22i" "0000140206" "00000864" "50" "2996" "-1353" "2996" "-1353" "c.2996-1353G>A" "r.(=)" "p.(=)" "22i" "0000140207" "00000864" "50" "2996" "-1213" "2996" "-1213" "c.2996-1213G>A" "r.(=)" "p.(=)" "22i" "0000140208" "00000864" "50" "2996" "-1028" "2996" "-1028" "c.2996-1028G>T" "r.(=)" "p.(=)" "22i" "0000140209" "00000864" "50" "2996" "-653" "2996" "-653" "c.2996-653T>C" "r.(=)" "p.(=)" "22i" "0000140210" "00000864" "50" "2996" "-637" "2996" "-637" "c.2996-637G>A" "r.(=)" "p.(=)" "22i" "0000140211" "00000864" "50" "2996" "-552" "2996" "-552" "c.2996-552G>A" "r.(=)" "p.(=)" "22i" "0000140212" "00000864" "50" "3088" "0" "3088" "0" "c.3088C>T" "r.(?)" "p.(Arg1030*)" "23" "0000140214" "00000864" "50" "3145" "0" "3145" "0" "c.3145T>G" "r.(?)" "p.(Ser1049Ala)" "23" "0000140215" "00000864" "50" "3168" "0" "3168" "0" "c.3168C>A" "r.(?)" "p.(Asp1056Glu)" "23" "0000140216" "00000864" "50" "3188" "0" "3188" "0" "c.3188T>G" "r.(?)" "p.(Leu1063Arg)" "23" "0000140217" "00000864" "50" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064Trp)" "23" "0000140218" "00000864" "50" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(Tyr1069*)" "23" "0000140219" "00000864" "50" "3306" "531" "3306" "531" "c.3306+531C>T" "r.(=)" "p.(=)" "23i" "0000140220" "00000864" "50" "3306" "650" "3306" "650" "c.3306+650A>G" "r.(=)" "p.(=)" "23i" "0000140221" "00000864" "50" "3306" "855" "3306" "855" "c.3306+855G>T" "r.(=)" "p.(=)" "23i" "0000140222" "00000864" "50" "3307" "-1124" "3307" "-1124" "c.3307-1124C>T" "r.(=)" "p.(=)" "23i" "0000140223" "00000864" "50" "3307" "-361" "3307" "-361" "c.3307-361G>T" "r.(=)" "p.(=)" "23i" "0000140224" "00000864" "50" "3340" "0" "3340" "0" "c.3340C>T" "r.(?)" "p.(Arg1114Cys)" "24" "0000140225" "00000864" "50" "3341" "0" "3341" "0" "c.3341G>A" "r.(?)" "p.(Arg1114His)" "24" "0000140227" "00000864" "50" "3343" "0" "3345" "0" "c.3343_3345del" "r.(?)" "p.(Leu1115del)" "24" "0000140228" "00000864" "50" "3362" "0" "3362" "0" "c.3362C>G" "r.(?)" "p.(Ser1121Trp)" "24" "0000140229" "00000864" "50" "3362" "0" "3362" "0" "c.3362C>T" "r.(?)" "p.(Ser1121Leu)" "24" "0000140230" "00000864" "50" "3364" "0" "3364" "0" "c.3364del" "r.(?)" "p.(Ser1122Leufs*33)" "24" "0000140231" "00000864" "50" "3380" "0" "3380" "0" "c.3380T>C" "r.(?)" "p.(Met1127Thr)" "24" "0000140232" "00000864" "50" "3381" "0" "3381" "0" "c.3381G>A" "r.(?)" "p.(Met1127Ile)" "24" "0000140233" "00000864" "50" "3389" "0" "3389" "0" "c.3389C>T" "r.(?)" "p.(Thr1130Met)" "24" "0000140234" "00000864" "50" "3397" "0" "3397" "0" "c.3397G>T" "r.(?)" "p.(Gly1133Cys)" "24" "0000140235" "00000864" "50" "3398" "0" "3398" "0" "c.3398G>C" "r.(?)" "p.(Gly1133Ala)" "24" "0000140236" "00000864" "50" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Arg1138Trp)" "24" "0000140237" "00000864" "50" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000140238" "00000864" "50" "3413" "0" "3413" "0" "c.3413G>C" "r.(?)" "p.(Arg1138Pro)" "24" "0000140239" "00000864" "50" "3415" "0" "3415" "0" "c.3415G>A" "r.(?)" "p.(Ala1139Thr)" "24" "0000140241" "00000864" "50" "3427" "0" "3427" "0" "c.3427C>T" "r.(?)" "p.(Gln1143*)" "24" "0000140242" "00000864" "50" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000140243" "00000864" "50" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Arg1164Gln)" "24" "0000140244" "00000864" "50" "3506" "2" "3506" "5" "c.3506+2_3506+5del" "r.spl?" "p.?" "24" "0000140245" "00000864" "50" "3506" "15" "3506" "15" "c.3506+15G>A" "r.(=)" "p.(=)" "24i" "0000140246" "00000864" "50" "3506" "83" "3506" "83" "c.3506+83C>A" "r.(=)" "p.(=)" "24i" "0000140247" "00000864" "50" "3506" "172" "3506" "172" "c.3506+172C>T" "r.(=)" "p.(=)" "24i" "0000140248" "00000864" "50" "3507" "-16" "3507" "-16" "c.3507-16T>C" "r.(=)" "p.(=)" "24i" "0000140250" "00000864" "50" "3507" "-1" "3507" "-1" "c.3507-1G>A" "r.spl" "p.?" "24i" "0000140251" "00000864" "50" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Asp)" "25" "0000140252" "00000864" "50" "3633" "55" "3633" "55" "c.3633+55T>C" "r.(=)" "p.(=)" "25i" "0000140253" "00000864" "50" "3633" "90" "3633" "90" "c.3633+90G>A" "r.(=)" "p.(=)" "25i" "0000140254" "00000864" "50" "3633" "529" "3633" "529" "c.3633+529A>G" "r.(=)" "p.(=)" "25i" "0000140255" "00000864" "50" "3634" "-506" "3634" "-506" "c.3634-506G>A" "r.(=)" "p.(=)" "25i" "0000140256" "00000864" "50" "3634" "-394" "3634" "-394" "c.3634-394C>T" "r.(=)" "p.(=)" "25i" "0000140257" "00000864" "50" "3634" "-130" "3634" "-130" "c.3634-130G>A" "r.(=)" "p.(=)" "25i" "0000140258" "00000864" "50" "3634" "-3" "3634" "-3" "c.3634-3C>A" "r.(=)" "p.?" "25i" "0000140259" "00000864" "50" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Arg1221Cys)" "26" "0000140260" "00000864" "50" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221His)" "26" "0000140261" "00000864" "50" "3668" "0" "3668" "0" "c.3668G>A" "r.(?)" "p.(Trp1223*)" "26" "0000140262" "00000864" "50" "3676" "0" "3676" "0" "c.3676C>A" "r.(?)" "p.(Leu1226Ile)" "26" "0000140263" "00000864" "50" "3703" "0" "3703" "0" "c.3703C>T" "r.(?)" "p.(Arg1235Trp)" "26" "0000140264" "00000864" "50" "3709" "0" "3709" "0" "c.3709C>T" "r.(?)" "p.(Gln1237*)" "26" "0000140265" "00000864" "50" "3712" "0" "3712" "0" "c.3712G>C" "r.(?)" "p.(Asp1238His)" "26" "0000140266" "00000864" "50" "3715" "0" "3715" "0" "c.3715T>C" "r.(?)" "p.(Tyr1239His)" "26" "0000140267" "00000864" "50" "3717" "0" "3717" "0" "c.3717T>G" "r.(?)" "p.(Tyr1239*)" "26" "0000140268" "00000864" "50" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Trp1241*)" "26" "0000140269" "00000864" "50" "3723" "0" "3723" "0" "c.3723G>C" "r.(?)" "p.(Trp1241Cys)" "26" "0000140270" "00000864" "50" "3735" "643" "3735" "643" "c.3735+643A>G" "r.(=)" "p.(=)" "26i" "0000140271" "00000864" "50" "3736" "-716" "3736" "-716" "c.3736-716G>T" "r.(=)" "p.(=)" "26i" "0000140272" "00000864" "50" "3736" "-502" "3736" "-502" "c.3736-502C>T" "r.(=)" "p.(=)" "26i" "0000140273" "00000864" "50" "3736" "-334" "3736" "-334" "c.3736-334A>C" "r.(=)" "p.(=)" "26i" "0000140274" "00000864" "50" "3736" "-233" "3736" "-233" "c.3736-233A>C" "r.(=)" "p.(=)" "26i" "0000140275" "00000864" "50" "3736" "-1" "3736" "-1" "c.3736-1G>A" "r.spl" "p.?" "26i" "0000140276" "00000864" "50" "3735" "0" "3735" "0" "c.3735G>A" "r.(?)" "p.(=)" "26" "0000140277" "00000864" "50" "3735" "0" "3735" "0" "c.3735G>T" "r.(?)" "p.(Glu1245Asp)" "26" "0000140280" "00000864" "50" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259Glyfs*14)" "27" "0000140281" "00000864" "50" "3798" "0" "3798" "0" "c.3798delT" "r.(?)" "p.?" "27" "0000140282" "00000864" "50" "3803" "0" "3803" "0" "c.3803G>A" "r.(?)" "p.(Arg1268Gln)" "27" "0000140283" "00000864" "50" "3818" "0" "3818" "0" "c.3818G>A" "r.(?)" "p.(Arg1273Lys)" "27" "0000140285" "00000864" "50" "3823" "0" "3823" "0" "c.3823C>T" "r.(?)" "p.(Arg1275*)" "27" "0000140286" "00000864" "50" "3871" "0" "3871" "0" "c.3871G>A" "r.(?)" "p.(Ala1291Thr)" "27" "0000140287" "00000864" "50" "3877" "0" "3877" "0" "c.3877G>A" "r.(?)" "p.(Glu1293Lys)" "27" "0000140288" "00000864" "50" "3880" "0" "3882" "0" "c.3880_3882del" "r.(?)" "p.(Lys1294del)" "27" "0000140289" "00000864" "50" "3882" "531" "3882" "531" "c.3882+531C>T" "r.(=)" "p.(=)" "27i" "0000140290" "00000864" "50" "3882" "922" "3882" "922" "c.3882+922G>C" "r.(=)" "p.(=)" "27i" "0000140291" "00000864" "50" "3883" "-46" "3883" "-46" "c.3883-46A>G" "r.(=)" "p.(=)" "27i" "0000140292" "00000864" "50" "3883" "-6" "3883" "-6" "c.3883-6G>A" "r.(=)" "p.(=)" "27i" "0000140293" "00000864" "50" "3883" "-5" "3883" "-5" "c.3883-5G>A" "r.(=)" "p.?" "27i" "0000140294" "00000864" "50" "3892" "0" "3892" "0" "c.3892G>T" "r.(?)" "p.(Val1298Phe)" "28" "0000140295" "00000864" "50" "3895" "0" "3895" "0" "c.3895G>A" "r.(?)" "p.(Gly1299Ser)" "28" "0000140296" "00000864" "50" "3902" "0" "3902" "0" "c.3902C>T" "r.(?)" "p.(Thr1301Ile)" "28" "0000140297" "00000864" "50" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "28" "0000140298" "00000864" "50" "3907" "0" "3907" "0" "c.3907G>C" "r.(?)" "p.(Ala1303Pro)" "28" "0000140299" "00000864" "50" "3912" "0" "3912" "0" "c.3912del" "r.(?)" "p.(Lys1305Serfs*54)" "28" "0000140300" "00000864" "50" "3919" "0" "3919" "0" "c.3919T>C" "r.(?)" "p.(Ser1307Pro)" "28" "0000140301" "00000864" "50" "3932" "0" "3932" "0" "c.3932G>A" "r.(?)" "p.(Gly1311Glu)" "28" "0000140302" "00000864" "50" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000140303" "00000864" "50" "3941" "0" "3941" "0" "c.3941G>A" "r.(?)" "p.(Arg1314Gln)" "28" "0000140304" "00000864" "50" "3961" "0" "3961" "0" "c.3961G>A" "r.(?)" "p.(Gly1321Ser)" "28" "0000140305" "00000864" "50" "3971" "0" "3971" "0" "c.3971G>A" "r.(?)" "p.(Trp1324*)" "28" "0000140306" "00000864" "50" "3978" "0" "3978" "0" "c.3978C>T" "r.(?)" "p.(=)" "28" "0000140307" "00000864" "50" "3999" "0" "3999" "0" "c.3999G>A" "r.(?)" "p.(=)" "28" "0000140308" "00000864" "50" "4004" "0" "4004" "0" "c.4004T>A" "r.(?)" "p.(Leu1335Gln)" "28" "0000140309" "00000864" "50" "4004" "0" "4004" "0" "c.4004T>C" "r.(?)" "p.(Leu1335Pro)" "28" "0000140310" "00000864" "50" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000140311" "00000864" "50" "4016" "0" "4016" "0" "c.4016G>A" "r.(?)" "p.(Arg1339His)" "28" "0000140312" "00000864" "50" "4016" "0" "4016" "0" "c.4016G>T" "r.(?)" "p.(Arg1339Leu)" "28" "0000140313" "00000864" "50" "4025" "0" "4025" "0" "c.4025T>C" "r.(?)" "p.(Ile1342Thr)" "28" "0000140314" "00000864" "50" "4033" "0" "4033" "0" "c.4033G>C" "r.(?)" "p.?" "28" "0000140315" "00000864" "50" "4036" "0" "4036" "0" "c.4036C>T" "r.(?)" "p.(Pro1346Ser)" "28" "0000140316" "00000864" "50" "4041" "0" "4041" "0" "c.4041G>C" "r.(?)" "p.(Gln1347His)" "28" "0000140317" "00000864" "50" "4042" "-30" "4042" "-30" "c.4042-30C>T" "r.(=)" "p.(=)" "28i" "0000140318" "00000864" "50" "4048" "0" "4048" "0" "c.4048A>C" "r.(?)" "p.(Ile1350Leu)" "29" "0000140320" "00000864" "50" "4069" "0" "4069" "0" "c.4069C>T" "r.(?)" "p.(Arg1357Trp)" "29" "0000140321" "00000864" "50" "4081" "0" "4081" "0" "c.4081G>A" "r.(?)" "p.(Asp1361Asn)" "29" "0000140322" "00000864" "50" "4104" "0" "4104" "0" "c.4104del" "r.(?)" "p.(Asp1368Glufs*35)" "29" "0000140323" "00000864" "50" "4182" "0" "4182" "0" "c.4182del" "r.(?)" "p.(Lys1394Asnfs*9)" "29" "0000140324" "00000864" "50" "4182" "0" "4182" "0" "c.4182G>T" "r.(?)" "p.(Lys1394Asn)" "29" "0000140325" "00000864" "50" "4192" "0" "4192" "0" "c.4192C>T" "r.(?)" "p.(Arg1398*)" "29" "0000140326" "00000864" "50" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "29" "0000140327" "00000864" "50" "4208" "9" "4208" "9" "c.4208+9G>A" "r.(=)" "p.(=)" "29i" "0000140328" "00000864" "50" "4208" "1014" "4208" "1014" "c.4208+1014T>A" "r.(=)" "p.(=)" "29i" "0000140329" "00000864" "50" "4209" "-1100" "4209" "-1100" "c.4209-1100C>T" "r.(=)" "p.(=)" "29i" "0000140330" "00000864" "50" "4209" "0" "4209" "0" "c.4209C>A" "r.(?)" "p.(Ser1403Arg)" "30" "0000140331" "00000864" "99" "4220" "0" "4221" "0" "c.4220_4221insGAAA" "r.(?)" "p.(Gln1408Lysfs*121)" "30" "0000140332" "00000864" "50" "4253" "0" "4253" "0" "c.4253G>A" "r.(?)" "p.(Arg1418Gln)" "30" "0000140333" "00000864" "50" "4254" "0" "4254" "0" "c.4254G>A" "r.(?)" "p.(=)" "30" "0000140334" "00000864" "50" "4271" "0" "4271" "0" "c.4271T>C" "r.(?)" "p.(Ile1424Thr)" "30" "0000140335" "00000864" "50" "4305" "0" "4305" "0" "c.4305C>T" "r.(?)" "p.(=)" "30" "0000140336" "00000864" "50" "4306" "0" "4312" "0" "c.4306_4312del" "r.(?)" "p.(Thr1436Cysfs*26)" "30" "0000140337" "00000864" "50" "4318" "0" "4318" "0" "c.4318del" "r.(?)" "p.(Met1440Cysfs*24)" "30" "0000140338" "00000864" "50" "4335" "0" "4335" "0" "c.4335del" "r.(?)" "p.(Ser1446Alafs*18)" "30" "0000140339" "00000864" "50" "4377" "0" "4377" "0" "c.4377C>T" "r.(?)" "p.(=)" "30" "0000140340" "00000864" "50" "4403" "11" "4403" "11" "c.4403+11C>G" "r.(=)" "p.(=)" "30i" "0000140341" "00000864" "50" "4404" "-81" "4404" "-81" "c.4404-81C>T" "r.(=)" "p.(=)" "30i" "0000140342" "00000864" "50" "4404" "-76" "4404" "-76" "c.4404-76A>G" "r.(=)" "p.(=)" "30i" "0000140343" "00000864" "50" "4404" "-31" "4404" "-31" "c.4404-31G>A" "r.(=)" "p.(=)" "30i" "0000140345" "00000864" "50" "4434" "0" "4434" "0" "c.4434del" "r.(?)" "p.(Glu1479Argfs*54)" "31" "0000140346" "00000864" "50" "4441" "0" "4441" "0" "c.4441G>A" "r.(?)" "p.(Gly1481Ser)" "31" "0000140347" "00000864" "50" "4448" "0" "4448" "0" "c.4448C>T" "r.(?)" "p.(Pro1483Leu)" "31" "0000140348" "00000864" "50" "4501" "0" "4501" "0" "c.4501G>A" "r.(?)" "p.(Gly1501Ser)" "31" "0000140349" "00000864" "50" "4529" "0" "4529" "0" "c.*17G>A" "r.(?)" "p.(=)" "31" "0000140350" "00000864" "50" "4550" "0" "4550" "0" "c.*38G>A" "r.(?)" "p.(=)" "31" "0000146073" "00000864" "99" "708" "0" "709" "0" "c.708_709dup" "r.(?)" "p.(Trp237Serfs*22)" "7" "0000146074" "00000864" "55" "4189" "0" "4189" "0" "c.4189G>A" "r.(?)" "p.(Asp1397Asn)" "29" "0000146075" "00000864" "55" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Ser400Phe)" "10" "0000146076" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146077" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146078" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146079" "00000864" "97" "220" "-1" "220" "-1" "c.220-1G>C" "r.spl" "p.?" "2i" "0000146080" "00000864" "55" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146081" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146082" "00000864" "99" "105" "0" "105" "0" "c.105del" "r.(?)" "p.(Val37Serfs*44)" "2" "0000146083" "00000864" "55" "3415" "0" "3415" "0" "c.3415G>A" "r.(?)" "p.(Ala1139Thr)" "24" "0000146084" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146085" "00000864" "99" "2831" "0" "2831" "0" "c.2831C>T" "r.(?)" "p.(Thr944Ile)" "22" "0000146086" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146087" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146088" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146089" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146090" "00000864" "55" "951" "0" "951" "0" "c.951C>R" "r.(?)" "p.(Ser317Arg)" "8" "0000146091" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146092" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146093" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146094" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146095" "00000864" "55" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Arg1138Trp)" "24" "0000146096" "00000864" "55" "179" "0" "187" "0" "c.179_187del" "r.(?)" "p.(Arg60_Tyr62del)" "20i" "0000146097" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>C" "r.(?)" "p.(Arg1138Pro)" "24" "0000146098" "00000864" "55" "4192" "0" "4192" "0" "c.4192C>T" "r.(?)" "p.(Arg1398*)" "29" "0000146099" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146100" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146101" "00000864" "55" "3398" "0" "3398" "0" "c.3398G>C" "r.(?)" "p.(Gly1133Ala)" "24" "0000146102" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146103" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146104" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146105" "00000864" "55" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "9" "0000146106" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146107" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146108" "00000864" "55" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Trp)" "18" "0000146109" "00000864" "55" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146110" "00000864" "55" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146111" "00000864" "55" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "9" "0000146112" "00000864" "55" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "28" "0000146113" "00000864" "55" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "28" "0000146114" "00000864" "99" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221His)" "26" "0000146115" "00000864" "55" "3389" "0" "3389" "0" "c.3389C>T" "r.(?)" "p.(Thr1130Met)" "24" "0000146116" "00000864" "55" "998" "2" "998" "2" "c.998+2del" "r.spl" "p.?" "8i" "0000146117" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146118" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146119" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146120" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146121" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146122" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146123" "00000864" "55" "3389" "0" "3389" "0" "c.3389C>T" "r.(?)" "p.(Thr1130Met)" "24" "0000146124" "00000864" "55" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146125" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146126" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146127" "00000864" "55" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146128" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146129" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146130" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146131" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146132" "00000864" "99" "2974" "0" "2974" "0" "c.2974G>C" "r.(?)" "p.(Gly992Arg)" "22" "0000146133" "00000864" "55" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Arg1138Trp)" "24" "0000146134" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146135" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146136" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146137" "00000864" "99" "4041" "0" "4041" "0" "c.4041G>C" "r.(?)" "p.(Gln1347His)" "28" "0000146138" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146139" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146140" "00000864" "99" "3907" "0" "3907" "0" "c.3907G>C" "r.(?)" "p.(Ala1303Pro)" "28" "0000146141" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146142" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146143" "00000864" "99" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Trp)" "18" "0000146144" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146145" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146146" "00000864" "55" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "21i" "0000146147" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146148" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146149" "00000864" "99" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146150" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146151" "00000864" "99" "3941" "0" "3941" "0" "c.3941G>A" "r.(?)" "p.(Arg1314Gln)" "28" "0000146152" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146153" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146154" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146155" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146156" "00000864" "99" "2814" "0" "2814" "0" "c.2814C>G" "r.(?)" "p.(Tyr938*)" "22" "0000146157" "00000864" "99" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Phe568Ser)" "13" "0000146158" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146159" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146160" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146161" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146162" "00000864" "55" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146163" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146164" "00000864" "99" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Arg1138Trp)" "24" "0000146165" "00000864" "99" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Arg1164Gln)" "24" "0000146166" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146167" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146168" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146169" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146170" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146171" "00000864" "99" "3340" "0" "3340" "0" "c.3340C>T" "r.(?)" "p.(Arg1114Cys)" "24" "0000146172" "00000864" "99" "1176" "0" "1176" "0" "c.1176G>C" "r.(?)" "p.(Lys392Asn)" "9" "0000146173" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146174" "00000864" "55" "1999" "0" "1999" "0" "c.1999del" "r.(?)" "p.(Ala667Glnfs*21)" "16" "0000146175" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146176" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146177" "00000864" "99" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(Arg600Cys)" "14" "0000146178" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146179" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146180" "00000864" "99" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146181" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146182" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146183" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146184" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146185" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146186" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146187" "00000864" "99" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146188" "00000864" "99" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146189" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146190" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146191" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146192" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146193" "00000864" "55" "2018" "0" "2018" "0" "c.2018T>C" "r.(?)" "p.(Leu673Pro)" "16" "0000146194" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146195" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146196" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146197" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146198" "00000864" "55" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Gln363*)" "9" "0000146199" "00000864" "55" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259Glyfs*14)" "27" "0000146200" "00000864" "55" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Arg1138Trp)" "24" "0000146201" "00000864" "99" "2819" "0" "2820" "0" "c.2819_2820insC" "r.(?)" "p.(Ala941Cysfs*97)" "22" "0000146202" "00000864" "55" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259Glyfs*14)" "27" "0000146203" "00000864" "55" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Tyr768*)" "18" "0000146204" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146205" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146206" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146207" "00000864" "55" "2093" "0" "2093" "0" "c.2093A>C" "r.(?)" "p.(Gln698Pro)" "17" "0000146208" "00000864" "55" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "28" "0000146209" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146210" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146211" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146212" "00000864" "55" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000146213" "00000864" "55" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146214" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146215" "00000864" "55" "3427" "0" "3427" "0" "c.3427C>T" "r.(?)" "p.(Gln1143*)" "24" "0000146216" "00000864" "55" "1484" "0" "1484" "0" "c.1484T>A" "r.(?)" "p.(Leu495His)" "12" "0000146217" "00000864" "55" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146218" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146219" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146220" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146221" "00000864" "55" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "21i" "0000146222" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146223" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146224" "00000864" "55" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146225" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146226" "00000864" "55" "2252" "0" "2252" "0" "c.2252T>A" "r.(?)" "p.(Met751Lys)" "18" "0000146227" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146228" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146229" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146230" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146231" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146232" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146233" "00000864" "97" "3415" "0" "3415" "0" "c.3415G>A" "r.(?)" "p.(Ala1139Thr)" "24" "0000146234" "00000864" "55" "4335" "0" "4335" "0" "c.4335del" "r.(?)" "p.(Ser1446Alafs*18)" "30" "0000146235" "00000864" "55" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518*)" "12" "0000146236" "00000864" "55" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259Glyfs*14)" "27" "0000146237" "00000864" "55" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "28" "0000146238" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146239" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146240" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146241" "00000864" "55" "2177" "0" "2177" "0" "c.2177T>C" "r.(?)" "p.(Leu726Pro)" "17" "0000146242" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146243" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146244" "00000864" "55" "2093" "0" "2093" "0" "c.2093A>C" "r.(?)" "p.(Gln698Pro)" "17" "0000146245" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146246" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146247" "00000864" "55" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146248" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146249" "00000864" "97" "4025" "0" "4025" "0" "c.4025T>C" "r.(?)" "p.(Ile1342Thr)" "28" "0000146250" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146251" "00000864" "55" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146252" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146253" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146254" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146255" "00000864" "55" "2359" "0" "2359" "0" "c.2359G>T" "r.(?)" "p.(Val787Phe)" "18" "0000146256" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146257" "00000864" "55" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146258" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146259" "00000864" "55" "2263" "0" "2263" "0" "c.2263G>A" "r.(?)" "p.(Gly755Arg)" "18" "0000146260" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146261" "00000864" "55" "3676" "0" "3676" "0" "c.3676C>A" "r.(?)" "p.(Leu1226Ile)" "26" "0000146262" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146263" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146264" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146265" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146266" "00000864" "55" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146267" "00000864" "55" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146268" "00000864" "99" "4004" "0" "4004" "0" "c.4004T>C" "r.(?)" "p.(Leu1335Pro)" "28" "0000146269" "00000864" "99" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "28" "0000146270" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146271" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146272" "00000864" "99" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146273" "00000864" "99" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146274" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146275" "00000864" "99" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Tyr768*)" "18" "0000146276" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146277" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146278" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146279" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146280" "00000864" "99" "1857" "0" "1857" "0" "c.1857dup" "r.(?)" "p.(Ser620Leufs*121)" "14" "0000146281" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146282" "00000864" "99" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Arg765Gln)" "18" "0000146283" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146284" "00000864" "55" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "21i" "0000146285" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146286" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146287" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146288" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146289" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146290" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146291" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146292" "00000864" "55" "3389" "0" "3389" "0" "c.3389C>T" "r.(?)" "p.(Thr1130Met)" "24" "0000146293" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146294" "00000864" "55" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146295" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146296" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146297" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146298" "00000864" "55" "1338" "1383" "1338" "1383" "c.1338+1383T>C" "r.(=)" "p.(=)" "10i" "0000146299" "00000864" "11" "346" "-6" "346" "-6" "c.346-6G>A" "r.(=)" "p.(=)" "3i" "0000146300" "00000864" "99" "3088" "0" "3088" "0" "c.3088C>T" "r.(?)" "p.(Arg1030*)" "23" "0000146301" "00000864" "99" "3736" "-1" "3736" "-1" "c.3736-1G>A" "r.spl" "p.?" "26i" "0000146302" "00000864" "99" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146303" "00000864" "99" "1944" "0" "1965" "0" "c.1944_1965del" "r.(spl?)" "p.(Ile649Alafs*32)" "16" "0000146304" "00000864" "99" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259Glyfs*14)" "27" "0000146305" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146306" "00000864" "99" "-1" "0" "4513" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_31_" "0000146307" "00000864" "99" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Arg1164Gln)" "24" "0000146308" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146309" "00000864" "99" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146310" "00000864" "99" "1363" "0" "1363" "0" "c.1363G>C" "r.(=)" "p.(Ala455Pro)" "11" "0000146311" "00000864" "99" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146312" "00000864" "99" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(fs*)" "19" "0000146313" "00000864" "11" "1233" "0" "1233" "0" "c.1233T>G" "r.(?)" "p.(Asn411Lys)" "10" "0000146314" "00000864" "11" "1890" "0" "1890" "0" "c.1890C>G" "r.(?)" "p.(Thr630=)" "15" "0000146315" "00000864" "11" "3506" "83" "3506" "83" "c.3506+83C>A" "r.(=)" "p.(=)" "24i" "0000146316" "00000864" "99" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518*)" "12" "0000146317" "00000864" "99" "960" "0" "960" "0" "c.960del" "r.(?)" "p.(Ser321Valfs*35)" "8" "0000146318" "00000864" "99" "681" "0" "681" "0" "c.681C>G" "r.(?)" "p.(Tyr227*)" "7" "0000146319" "00000864" "55" "1838" "0" "1838" "0" "c.1838T>G" "r.(?)" "p.(Val614Ala)" "14" "0000146320" "00000864" "55" "1838" "0" "1838" "0" "c.1838T>G" "r.(?)" "p.(Val614Ala)" "14" "0000146321" "00000864" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_31_" "0000146322" "00000864" "55" "2996" "-1" "4208" "1" "c.2996-?_4208+?del" "r.(=)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146323" "00000864" "99" "3907" "0" "3907" "0" "c.3907G>C" "r.(?)" "p.(Ala1303Pro)" "28" "0000146324" "00000864" "99" "3341" "0" "3341" "0" "c.3341G>C" "r.(?)" "p.(Arg1114Pro)" "24" "0000146325" "00000864" "11" "3803" "0" "3803" "0" "c.3803G>A" "r.(?)" "p.(Arg1268Gln)" "27" "0000146326" "00000864" "99" "3941" "0" "3941" "0" "c.3941G>A" "r.(?)" "p.(Arg1314Gln)" "28" "0000146327" "00000864" "11" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Arg265Gly)" "7" "0000146328" "00000864" "99" "1233" "0" "1233" "0" "c.1233T>G" "r.(?)" "p.(Asn411Lys)" "10" "0000146329" "00000864" "99" "4081" "0" "4081" "0" "c.4081G>A" "r.(?)" "p.(Asp1361Asn)" "29" "0000146330" "00000864" "99" "179" "0" "195" "0" "c.179_195del" "r.(?)" "p.(Arg60Leufs*35)" "2" "0000146331" "00000864" "99" "1999" "0" "1999" "0" "c.1999del" "r.(?)" "p.(Ala667Glnfs*21)" "16" "0000146332" "00000864" "99" "2323" "0" "2323" "0" "c.2323del" "r.(?)" "p.(Leu775Cysfs*36)" "18" "0000146333" "00000864" "99" "938" "0" "938" "0" "c.938dup" "r.(?)" "p.(Thr315Aspfs*8)" "8" "0000146334" "00000864" "99" "3709" "0" "3709" "0" "c.3709C>T" "r.(?)" "p.(Gln1237*)" "26" "0000146335" "00000864" "99" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Asp)" "25" "0000146336" "00000864" "99" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "28" "0000146337" "00000864" "99" "3961" "0" "3961" "0" "c.3961G>A" "r.(?)" "p.(Gly1321Ser)" "28" "0000146338" "00000864" "13" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Gly207Arg)" "6" "0000146339" "00000864" "11" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Asp)" "2" "0000146340" "00000864" "11" "1896" "0" "1896" "0" "c.1896C>A" "r.(?)" "p.(His632Gln)" "15" "0000146341" "00000864" "99" "4271" "0" "4271" "0" "c.4271T>C" "r.(?)" "p.(Ile1424Thr)" "30" "0000146342" "00000864" "11" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Ile319Val)" "8" "0000146343" "00000864" "99" "2018" "0" "2018" "0" "c.2018T>C" "r.(?)" "p.(Leu673Pro)" "16" "0000146344" "00000864" "13" "2858" "0" "2858" "0" "c.2858T>A" "r.(?)" "p.(Leu953His)" "22" "0000146345" "00000864" "11" "841" "0" "841" "0" "c.841A>G" "r.(?)" "p.(Lys281Glu)" "8" "0000146346" "00000864" "55" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Phe568Ser)" "13" "0000146347" "00000864" "99" "1703" "0" "1703" "0" "c.1703T>C" "r.(?)" "p.(Phe568Ser)" "13" "0000146348" "00000864" "99" "3362" "0" "3362" "0" "c.3362C>G" "r.(?)" "p.(Ser1121Trp)" "24" "0000146349" "00000864" "99" "3902" "0" "3902" "0" "c.3902C>T" "r.(?)" "p.(Thr1301Ile)" "28" "0000146350" "00000864" "33" "3723" "0" "3723" "0" "c.3723G>C" "r.(?)" "p.(Trp1241Cys)" "26" "0000146351" "00000864" "99" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Tyr768*)" "18" "0000146352" "00000864" "99" "3892" "0" "3892" "0" "c.3892G>T" "r.(?)" "p.(Val1298Phe)" "28" "0000146353" "00000864" "11" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(=)" "9" "0000146354" "00000864" "11" "1141" "0" "1141" "0" "c.1141T>C" "r.(?)" "p.(Leu381=)" "9" "0000146355" "00000864" "11" "645" "0" "645" "0" "c.645G>A" "r.(?)" "p.(Thr215=)" "6" "0000146356" "00000864" "11" "662" "114" "662" "114" "c.662+114T>C" "r.(?)" "p.(=)" "6i" "0000146357" "00000864" "11" "662" "12" "662" "12" "c.662+12C>T" "r.(?)" "p.(=)" "6i" "0000146358" "00000864" "11" "662" "298" "662" "298" "c.662+298C>G" "r.(?)" "p.(=)" "6i" "0000146359" "00000864" "11" "662" "305" "662" "305" "c.662+305T>G" "r.(?)" "p.(=)" "6i" "0000146360" "00000864" "11" "662" "403" "662" "403" "c.662+403T>A" "r.(?)" "p.(=)" "6i" "0000146361" "00000864" "99" "179" "0" "187" "0" "c.179_187del" "r.(?)" "p.(Arg60_Tyr62del)" "2" "0000146362" "00000864" "99" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000146364" "00000864" "99" "1091" "0" "1091" "0" "c.1091C>G" "r.(?)" "p.(Thr364Arg)" "9" "0000146365" "00000864" "13" "1431" "73" "1431" "73" "c.1431+73G>C" "r.(=)" "p.(=)" "11i" "0000146366" "00000864" "13" "1432" "-22" "1432" "-22" "c.1432-22C>A" "r.(=)" "p.(=)" "11i" "0000146367" "00000864" "13" "1432" "-45" "1432" "-45" "c.1432-45C>A" "r.(?)" "p.(=)" "11i" "0000146368" "00000864" "13" "2787" "30" "2787" "30" "c.2787+30G>A" "r.(?)" "p.(=)" "21i" "0000146369" "00000864" "11" "3507" "-16" "3507" "-16" "c.3507-16T>C" "r.(?)" "p.(=)" "24i" "0000146370" "00000864" "55" "3507" "-3" "3507" "-3" "c.3507-3C>T" "r.(?)" "p.(=)" "24i" "0000146371" "00000864" "11" "3633" "55" "3633" "55" "c.3633+55T>C" "r.(?)" "p.(=)" "25i" "0000146372" "00000864" "11" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Thr285=)" "8" "0000146373" "00000864" "55" "865" "0" "889" "0" "c.865_889del" "r.(?)" "p.(Leu289Alafs*4)" "8" "0000146374" "00000864" "13" "4048" "0" "4048" "0" "c.4048A>C" "r.(?)" "p.(Ile1350Leu)" "29" "0000146375" "00000864" "99" "11" "0" "2248" "-12" "c.2248-12_11delTT" "r.spl" "p.?" "17i" "0000146376" "00000864" "11" "1245" "0" "1245" "0" "c.1245G>A" "r.(?)" "p.(Val415=)" "10" "0000146377" "00000864" "11" "2904" "0" "2904" "0" "c.2904G>A" "r.(?)" "p.(Leu968=)" "22" "0000146378" "00000864" "99" "3341" "0" "3341" "0" "c.3341G>A" "r.(?)" "p.(Arg1114His)" "24" "0000146379" "00000864" "90" "4375" "0" "4375" "0" "c.4375C>T" "r.(?)" "p.(Arg1459Cys)" "30" "0000146380" "00000864" "99" "1944" "0" "1965" "0" "c.1944_1965del" "r.(?)" "p.(Ile649Alafs*32)" "16" "0000146381" "00000864" "99" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259Glyfs*14)" "27" "0000146382" "00000864" "99" "4182" "0" "4182" "0" "c.4182del" "r.(?)" "p.(Lys1394Asnfs*9)" "29" "0000146383" "00000864" "99" "4220" "0" "4221" "0" "c.4220_4221insGAAA" "r.(?)" "p.(Gln1408Lysfs*121)" "30" "0000146384" "00000864" "99" "4182" "0" "4182" "0" "c.4182G>T" "r.(?)" "p.(Lys1394Asn)" "29" "0000146385" "00000864" "11" "2631" "0" "2631" "0" "c.2631C>A" "r.(?)" "p.(Thr877=)" "20" "0000146386" "00000864" "99" "3389" "0" "3389" "0" "c.3389C>T" "r.(?)" "p.(Thr1130Met)" "24" "0000146387" "00000864" "99" "3634" "-3" "3634" "-3" "c.3634-3C>A" "r.spl" "p.?" "25i" "0000146388" "00000864" "11" "4404" "-76" "4404" "-76" "c.4404-76A>G" "r.(=)" "p.(=)" "30i" "0000146389" "00000864" "99" "2297" "0" "2297" "0" "c.2297C>A" "r.(?)" "p.(Ala766Asp)" "18" "0000146390" "00000864" "99" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "9" "0000146391" "00000864" "99" "3712" "0" "3712" "0" "c.3712G>C" "r.(?)" "p.(Asp1238His)" "26" "0000146392" "00000864" "99" "1088" "0" "1120" "0" "c.1088_1120del" "r.(?)" "p.(Gln363_Arg373del)" "9" "0000146393" "00000864" "99" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "29" "0000146394" "00000864" "99" "4004" "0" "4004" "0" "c.4004T>C" "r.(?)" "p.(Leu1335Pro)" "28" "0000146395" "00000864" "99" "3668" "0" "3668" "0" "c.3668G>A" "r.(?)" "p.(Trp1223*)" "26" "0000146396" "00000864" "99" "220" "0" "222" "0" "c.220_222del" "r.(?)" "p.(Val74del)" "3" "0000146397" "00000864" "99" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199*)" "5" "0000146398" "00000864" "11" "1868" "-85" "1868" "-85" "c.1868-85del" "r.(=)" "p.(=)" "14" "0000146399" "00000864" "99" "1" "0" "2248" "-2" "c.2248-2_1delAG" "r.spl" "p.?" "17i" "0000146400" "00000864" "11" "1868" "-90" "1868" "-90" "c.1868-90G>T" "r.(=)" "p.(=)" "14i" "0000146401" "00000864" "11" "4404" "-31" "4404" "-31" "c.4404-31G>A" "r.(=)" "p.(=)" "30i" "0000146402" "00000864" "99" "2458" "0" "2458" "0" "c.2458G>C" "r.(?)" "p.(Ala820Pro)" "19" "0000146403" "00000864" "99" "3340" "0" "3340" "0" "c.3340C>T" "r.(?)" "p.(Arg1114Cys)" "24" "0000146404" "00000864" "99" "3823" "0" "3823" "0" "c.3823C>T" "r.(?)" "p.(Arg1275*)" "27" "0000146405" "00000864" "99" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(Arg600Cys)" "14" "0000146406" "00000864" "99" "1318" "0" "1318" "0" "c.1318T>G" "r.(?)" "p.(Cys440Gly)" "10" "0000146407" "00000864" "99" "3544" "0" "3544" "0" "c.3544dup" "r.(?)" "p.(Leu1182Profs*96)" "25" "0000146408" "00000864" "99" "4318" "0" "4318" "0" "c.4318del" "r.(?)" "p.(Met1440Cysfs*24)" "30" "0000146409" "00000864" "97" "3380" "0" "3380" "0" "c.3380T>C" "r.(?)" "p.(Met1127Thr)" "24" "0000146410" "00000864" "99" "4036" "0" "4036" "0" "c.4036C>T" "r.(?)" "p.(Pro1346Ser)" "28" "0000146411" "00000864" "99" "2428" "0" "2428" "0" "c.2428G>A" "r.(?)" "p.(Val810Met)" "19" "0000146412" "00000864" "99" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Arg1221Cys)" "26" "0000146413" "00000864" "99" "2836" "0" "2851" "0" "c.2836_2851del" "r.(?)" "p.(Leu946Serfs*18)" "22" "0000146414" "00000864" "13" "2666" "134" "2666" "134" "c.2666+134dup" "r.(=)" "p.(=)" "20i" "0000146415" "00000864" "55" "2666" "139" "2666" "139" "c.2666+139G>A" "r.(=)" "p.(=)" "20i" "0000146416" "00000864" "15" "4403" "11" "4403" "11" "c.4403+11C>G" "r.(=)" "p.(=)" "30i" "0000146417" "00000864" "13" "4404" "-81" "4404" "-81" "c.4404-81C>T" "r.(=)" "p.(=)" "30i" "0000146418" "00000864" "99" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Trp)" "18" "0000146419" "00000864" "99" "4434" "0" "4434" "0" "c.4434del" "r.(?)" "p.(Glu1479Argfs*54)" "31" "0000146420" "00000864" "97" "2552" "0" "2552" "0" "c.2552T>C" "r.(?)" "p.(Leu851Pro)" "19" "0000146421" "00000864" "99" "2252" "0" "2252" "0" "c.2252T>A" "r.(?)" "p.(Met751Lys)" "18" "0000146422" "00000864" "11" "2855" "0" "2855" "0" "c.2855T>G" "r.(?)" "p.(Phe952Cys)" "22" "0000146423" "00000864" "95" "4209" "0" "4209" "0" "c.4209C>A" "r.(?)" "p.(Ser1403Arg)" "30" "0000146424" "00000864" "99" "3823" "0" "3870" "0" "c.3823_3870del" "r.(?)" "p.(Arg1275_His1290del)" "27" "0000146425" "00000864" "99" "1780" "-29" "1780" "-29" "c.1780-29T>A" "r.spl" "p.(=)" "13i" "0000146426" "00000864" "55" "1780" "-29" "1780" "-29" "c.1780-29T>A" "r.spl" "p.(=)" "13i" "0000146427" "00000864" "99" "1868" "-5" "1868" "-5" "c.1868-5T>G" "r.spl" "p.?" "14i" "0000146428" "00000864" "55" "1868" "-5" "1868" "-5" "c.1868-5T>G" "r.spl" "p.?" "14i" "0000146429" "00000864" "99" "998" "2" "998" "3" "c.998+2_998+3del" "r.spl" "p.?" "8i" "0000146430" "00000864" "99" "2342" "0" "2342" "0" "c.2342C>T" "r.(?)" "p.(Ala781Val)" "18" "0000146431" "00000864" "99" "3895" "0" "3895" "0" "c.3895G>A" "r.(?)" "p.(Gly1299Ser)" "28" "0000146432" "00000864" "99" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Gly226Arg)" "7" "0000146433" "00000864" "55" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Gly226Arg)" "7" "0000146434" "00000864" "99" "1505" "0" "1505" "0" "c.1505A>T" "r.(?)" "p.(Lys502Met)" "12" "0000146435" "00000864" "99" "3343" "0" "3345" "0" "c.3343_3345del" "r.(?)" "p.(Leu1115del)" "24" "0000146436" "00000864" "99" "3919" "0" "3919" "0" "c.3919T>C" "r.(?)" "p.(Ser1307Pro)" "28" "0000146437" "00000864" "11" "4550" "0" "4550" "0" "c.*38G>A" "r.(=)" "p.(=)" "31" "0000146438" "00000864" "99" "-1" "0" "2787" "1" "c.(?_-1)_(2787+1_2788-1)del" "r.0" "p.0" "_1_21i" "0000146439" "00000864" "11" "1176" "6" "1176" "6" "c.1176+6C>T" "r.spl" "p.(=)" "9i" "0000146440" "00000864" "99" "3307" "-38" "3307" "-3" "c.3307-3_3307-38delinsAGA" "r.spl" "p.?" "23i" "0000146441" "00000864" "55" "3507" "-16" "3507" "-16" "c.3507-16T>C" "r.spl" "p.(=)" "24i" "0000146442" "00000864" "55" "3507" "-1" "3507" "-1" "c.3507-1G>A" "r.spl" "p.?" "24i" "0000146443" "00000864" "55" "3507" "-3" "3507" "-3" "c.3507-3C>T" "r.spl" "p.?" "24i" "0000146444" "00000864" "99" "3774" "0" "3774" "0" "c.3774dup" "r.(?)" "p.(Trp1259Leufs*19)" "27" "0000146445" "00000864" "79" "3883" "-6" "3883" "-6" "c.3883-6G>A" "r.spl" "p.(=)" "27i" "0000146446" "00000864" "11" "1338" "20" "1338" "20" "c.1338+20C>G" "r.(=)" "p.(=)" "10i" "0000146447" "00000864" "11" "1338" "62" "1338" "62" "c.1338+62G>C" "r.(=)" "p.(=)" "10i" "0000146448" "00000864" "11" "1338" "7" "1338" "7" "c.1338+7C>G" "r.(=)" "p.(=)" "10i" "0000146449" "00000864" "55" "1635" "47" "1635" "47" "c.1635+47C>T" "r.(=)" "p.(=)" "12i" "0000146450" "00000864" "11" "1868" "-57" "1868" "-57" "c.1868-57G>A" "r.(=)" "p.(=)" "14i" "0000146451" "00000864" "11" "2175" "0" "2175" "0" "c.2175A>T" "r.(?)" "p.(Val725=)" "17" "0000146452" "00000864" "11" "2820" "0" "2820" "0" "c.2820T>G" "r.(?)" "p.(Arg940=)" "22" "0000146453" "00000864" "11" "345" "26" "345" "26" "c.345+26C>T" "r.(=)" "p.(=)" "3i" "0000146454" "00000864" "97" "3507" "-1" "3507" "-1" "c.3507-1G>A" "r.(=)" "p.(=)" "24i" "0000146455" "00000864" "97" "3735" "0" "3735" "0" "c.3735G>A" "r.(?)" "p.(Glu1245=)" "26" "0000146456" "00000864" "11" "3883" "-24" "3883" "-24" "c.3883-24G>A" "r.(=)" "p.(=)" "27i" "0000146457" "00000864" "11" "4042" "-30" "4042" "-30" "c.4042-30C>T" "r.(=)" "p.(=)" "28i" "0000146458" "00000864" "11" "4208" "9" "4208" "9" "c.4208+9G>A" "r.(=)" "p.(=)" "29i" "0000146459" "00000864" "11" "4305" "0" "4305" "0" "c.4305C>T" "r.(?)" "p.(Gly1435=)" "30" "0000146460" "00000864" "11" "475" "-45" "475" "-45" "c.475-45C>T" "r.(=)" "p.(=)" "4i" "0000146461" "00000864" "11" "600" "23" "600" "23" "c.600+23C>T" "r.(=)" "p.(=)" "5i" "0000146462" "00000864" "55" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Ala594Val)" "14" "0000146463" "00000864" "11" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064Trp)" "23" "0000146464" "00000864" "99" "3703" "0" "3703" "0" "c.3703C>T" "r.(?)" "p.(Arg1235Trp)" "26" "0000146465" "00000864" "99" "4016" "0" "4016" "0" "c.4016G>T" "r.(?)" "p.(Arg1339Leu)" "28" "0000146466" "00000864" "11" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "17" "0000146467" "00000864" "99" "2420" "0" "2420" "0" "c.2420G>A" "r.(?)" "p.(Arg807Gln)" "19" "0000146468" "00000864" "99" "2419" "0" "2419" "0" "c.2419C>T" "r.(?)" "p.(Arg807Trp)" "19" "0000146469" "00000864" "99" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Asn370Asp)" "9" "0000146470" "00000864" "99" "3168" "0" "3168" "0" "c.3168C>A" "r.(?)" "p.(Asp1056Glu)" "23" "0000146471" "00000864" "99" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Gln842*)" "19" "0000146472" "00000864" "97" "3735" "0" "3735" "0" "c.3735G>T" "r.(?)" "p.(Glu1245Asp)" "26" "0000146473" "00000864" "99" "373" "0" "373" "0" "c.373G>T" "r.(?)" "p.(Glu125*)" "4" "0000146474" "00000864" "99" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Gly129Glu)" "4" "0000146475" "00000864" "11" "2224" "0" "2224" "0" "c.2224A>G" "r.(?)" "p.(Ile742Val)" "17" "0000146476" "00000864" "99" "1064" "0" "1064" "0" "c.1064T>G" "r.(?)" "p.(Leu355Arg)" "9" "0000146477" "00000864" "99" "1484" "0" "1484" "0" "c.1484T>A" "r.(?)" "p.(Leu495His)" "12" "0000146478" "00000864" "99" "2030" "0" "2030" "0" "c.2030T>C" "r.(?)" "p.(Leu677Pro)" "16" "0000146479" "00000864" "31" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146480" "00000864" "99" "3106" "0" "3108" "0" "c.3106_3108del" "r.(?)" "p.(Phe1036del)" "23" "0000146481" "00000864" "55" "3143" "0" "3145" "0" "c.3143_3145del" "r.(?)" "p.(Phe1048del)" "23" "0000146482" "00000864" "99" "1652" "0" "1652" "0" "c.1652T>C" "r.(?)" "p.(Phe551Ser)" "13" "0000146483" "00000864" "99" "3362" "0" "3362" "0" "c.3362C>T" "r.(?)" "p.(Ser1121Leu)" "24" "0000146484" "00000864" "99" "951" "0" "951" "0" "c.951C>R" "r.(?)" "p.(Ser317Arg)" "8" "0000146485" "00000864" "99" "1192" "0" "1192" "0" "c.1192A>G" "r.(?)" "p.(Ser398Gly)" "10" "0000146486" "00000864" "99" "2162" "0" "2162" "0" "c.2162G>A" "r.(?)" "p.(Trp721*)" "17" "0000146487" "00000864" "11" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Val514Ile)" "12" "0000146488" "00000864" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_31_" "0000146489" "00000864" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_31_" "0000146490" "00000864" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_31_" "0000146491" "00000864" "77" "3818" "0" "3818" "0" "c.3818G>A" "r.(?)" "p.(Arg1273Lys)" "27" "0000146492" "00000864" "97" "4253" "0" "4253" "0" "c.4253G>A" "r.(?)" "p.(Arg1418Gln)" "30" "0000146493" "00000864" "77" "3877" "0" "3877" "0" "c.3877G>A" "r.(?)" "p.(Glu1293Lys)" "27" "0000146494" "00000864" "15" "4403" "11" "4403" "11" "c.4403+11C>G" "r.spl" "p.(=)" "30i" "0000146495" "00000864" "55" "2247" "22" "2247" "22" "c.2247+22T>G" "r.(=)" "p.(=)" "17i" "0000146496" "00000864" "55" "3506" "15" "3506" "15" "c.3506+15G>A" "r.(=)" "p.(=)" "24i" "0000146497" "00000864" "11" "4254" "0" "4254" "0" "c.4254G>A" "r.(?)" "p.(Arg1418Arg=)" "30" "0000146498" "00000864" "15" "1964" "0" "1964" "0" "c.1964A>G" "r.(?)" "p.(Gln655Arg)" "16" "0000146499" "00000864" "55" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Pro664Ser)" "16" "0000146500" "00000864" "11" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Ala158Val)" "4" "0000146501" "00000864" "99" "3932" "0" "3932" "0" "c.3932G>A" "r.(?)" "p.(Gly1311Glu)" "28" "0000146502" "00000864" "97" "3715" "0" "3715" "0" "c.3715T>C" "r.(?)" "p.(Tyr1239His)" "26" "0000146503" "00000864" "99" "2432" "0" "2432" "0" "c.2432C>T" "r.(?)" "p.(Thr811Met)" "19" "0000146504" "00000864" "55" "654" "0" "654" "0" "c.654G>T" "r.(?)" "p.(Trp218Cys)" "6" "0000146505" "00000864" "55" "654" "0" "654" "0" "c.654G>T" "r.(?)" "p.(Trp218Cys)" "6" "0000146506" "00000864" "95" "3506" "2" "3506" "5" "c.3506+2_3506+5del" "r.spl" "p.?" "24_24i" "0000146507" "00000864" "99" "37" "-1" "37" "-1" "c.37-1G>A" "r.spl" "p.?" "1i" "0000146508" "00000864" "97" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487Gln)" "12" "0000146509" "00000864" "97" "1491" "0" "1491" "0" "c.1491C>A" "r.(?)" "p.(Asn497Lys)" "12" "0000146510" "00000864" "55" "3188" "0" "3188" "0" "c.3188T>C" "r.(?)" "p.(Leu1063Pro)" "23" "0000146511" "00000864" "97" "3188" "0" "3188" "0" "c.3188T>G" "r.(?)" "p.(Leu1063Arg)" "23" "0000146512" "00000864" "75" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Leu252Phe)" "7" "0000146513" "00000864" "55" "754" "0" "754" "0" "c.754V>T" "r.(?)" "p.(Leu252Phe)" "7" "0000146514" "00000864" "99" "1575" "0" "1575" "0" "c.1575dup" "r.(?)" "p.(Arg526Alafs*74)" "12" "0000146515" "00000864" "95" "3145" "0" "3145" "0" "c.3145T>G" "r.(?)" "p.(Ser1049Ala)" "23" "0000146516" "00000864" "95" "113" "0" "113" "0" "c.113G>C" "r.(?)" "p.(Trp38Ser)" "2" "0000146517" "00000864" "75" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Val415Ala)" "10" "0000146518" "00000864" "97" "2848" "0" "2848" "0" "c.2848G>A" "r.(?)" "p.(Ala950Thr)" "22" "0000146519" "00000864" "99" "4016" "0" "4016" "0" "c.4016G>A" "r.(?)" "p.(Arg1339His)" "28" "0000146520" "00000864" "99" "4192" "0" "4192" "0" "c.4192C>T" "r.(?)" "p.(Arg1398*)" "29" "0000146521" "00000864" "97" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Arg382Trp)" "9" "0000146522" "00000864" "99" "179" "0" "187" "0" "c.179_187del" "r.(?)" "p.(Arg60_Tyr62del)" "2" "0000146523" "00000864" "97" "2643" "0" "2643" "0" "c.2643G>T" "r.(?)" "p.(Arg881Ser)" "20" "0000146524" "00000864" "97" "2329" "0" "2329" "0" "c.2329G>A" "r.(?)" "p.(Asp777Asn)" "18" "0000146525" "00000864" "99" "1999" "0" "1999" "0" "c.1999del" "r.(?)" "p.(Ala667Glnfs*21)" "16" "0000146526" "00000864" "99" "4335" "0" "4335" "0" "c.4335del" "r.(?)" "p.(Ser1446Alafs*18)" "30" "0000146527" "00000864" "99" "3427" "0" "3427" "0" "c.3427C>T" "r.(?)" "p.(Gln1143*)" "24" "0000146528" "00000864" "99" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Gln363*)" "9" "0000146529" "00000864" "97" "2093" "0" "2093" "0" "c.2093A>C" "r.(?)" "p.(Gln698Pro)" "17" "0000146530" "00000864" "99" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Glu242*)" "7" "0000146531" "00000864" "99" "3398" "0" "3398" "0" "c.3398G>C" "r.(?)" "p.(Gly1133Ala)" "24" "0000146532" "00000864" "97" "4441" "0" "4441" "0" "c.4441G>A" "r.(?)" "p.(Gly1481Ser)" "31" "0000146533" "00000864" "97" "4501" "0" "4501" "0" "c.4501G>A" "r.(?)" "p.(Gly1501Ser)" "31" "0000146534" "00000864" "97" "1987" "0" "1987" "0" "c.1987G>T" "r.(?)" "p.(Gly663Cys)" "16" "0000146535" "00000864" "97" "2263" "0" "2263" "0" "c.2263G>A" "r.(?)" "p.(Gly755Arg)" "18" "0000146536" "00000864" "97" "3074" "0" "3074" "0" "c.3074T>C" "r.(?)" "p.(Leu1025Pro)" "23" "0000146537" "00000864" "97" "3676" "0" "3676" "0" "c.3676C>A" "r.(?)" "p.(Leu1226Ile)" "26" "0000146538" "00000864" "99" "4004" "0" "4004" "0" "c.4004T>A" "r.(?)" "p.(Leu1335Gln)" "28" "0000146539" "00000864" "97" "1388" "0" "1388" "0" "c.1388T>A" "r.(=)" "p.(Leu463His)" "11" "0000146540" "00000864" "97" "2177" "0" "2177" "0" "c.2177T>C" "r.(?)" "p.(Leu726Pro)" "17" "0000146541" "00000864" "97" "1176" "0" "1176" "0" "c.1176G>C" "r.(?)" "p.(Lys392Asn)" "9" "0000146542" "00000864" "99" "951" "0" "951" "0" "c.951C>R" "r.(?)" "p.(Ser317Arg)" "8" "0000146543" "00000864" "97" "1603" "0" "1603" "0" "c.1603T>C" "r.(?)" "p.(Ser535Pro)" "12" "0000146544" "00000864" "97" "2831" "0" "2831" "0" "c.2831C>T" "r.(?)" "p.(Thr944Ile)" "22" "0000146545" "00000864" "99" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Trp1241*)" "26" "0000146546" "00000864" "99" "2814" "0" "2814" "0" "c.2814C>G" "r.(?)" "p.(Tyr938*)" "22" "0000146547" "00000864" "55" "2359" "0" "2359" "0" "c.2359G>T" "r.(?)" "p.(Val787Phe)" "18" "0000146548" "00000864" "99" "4420" "0" "4420" "0" "c.4420A>T" "r.(?)" "p.(Lys1474*)" "31" "0000146549" "00000864" "99" "1092" "0" "1339" "-1949" "c.1092_1339-1949del" "r.spl?" "p.?" "9_10i" "0000146550" "00000864" "99" "3307" "-1006" "3882" "1582" "c.3307-1006_3882+1582del" "r.(?)" "p.(Ser1103_Lys1294del)" "23i_27i" "0000146551" "00000864" "99" "-3189" "0" "36" "1181" "c.-3189_36+1181del" "r.(=)" "p.0" "_1_1i" "0000146552" "00000864" "99" "1674" "0" "1674" "0" "c.1674del" "r.(?)" "p.(Glu559Argfs*4)" "13" "0000146553" "00000864" "99" "177" "0" "181" "0" "c.177_181del" "r.(?)" "p.(Arg60Leufs*39)" "2" "0000146554" "00000864" "99" "2279" "0" "2279" "0" "c.2279G>A" "r.(?)" "p.(Arg760Gln)" "18" "0000146555" "00000864" "99" "2293" "0" "2293" "0" "c.2293C>T" "r.(?)" "p.(Arg765Trp)" "18" "0000146556" "00000864" "97" "1396" "0" "1396" "0" "c.1396A>T" "r.(=)" "p.(Asn466Tyr)" "11" "0000146557" "00000864" "97" "2379" "0" "2379" "0" "c.2379C>G" "r.(?)" "p.(Asn793Lys)" "18" "0000146558" "00000864" "97" "2943" "0" "2943" "0" "c.2943G>T" "r.(?)" "p.(Gln981His)" "22" "0000146559" "00000864" "97" "1563" "0" "1563" "0" "c.1563G>C" "r.(?)" "p.(Glu521Asp)" "12" "0000146560" "00000864" "97" "3787" "0" "3787" "0" "c.3787G>A" "r.(?)" "p.(Gly1263Arg)" "27" "0000146561" "00000864" "97" "4216" "0" "4216" "0" "c.4216G>A" "r.(?)" "p.(Gly1405Ser)" "30" "0000146562" "00000864" "99" "1996" "0" "1996" "0" "c.1996G>T" "r.(?)" "p.(Gly666Trp)" "16" "0000146563" "00000864" "99" "1192" "0" "1192" "0" "c.1192C>G" "r.(?)" "p.(Ser398Arg)" "10" "0000146564" "00000864" "99" "1901" "0" "1901" "0" "c.1901C>T" "r.(?)" "p.(Ala634Val)" "9" "0000146565" "00000864" "97" "1498" "0" "1498" "0" "c.1498A>C" "r.(?)" "p.(Thr500Pro)" "12" "0000146566" "00000864" "99" "3364" "0" "3364" "0" "c.3364del" "r.(?)" "p.(Ser1122Leufs*33)" "24" "0000146567" "00000864" "99" "3871" "0" "3871" "0" "c.3871G>A" "r.(?)" "p.(Ala1291Thr)" "27" "0000146568" "00000864" "97" "2891" "0" "2891" "0" "c.2891G>C" "r.(?)" "p.(Arg964Pro)" "22" "0000146569" "00000864" "99" "4306" "0" "4312" "0" "c.4306_4312del" "r.(?)" "p.(Thr1436Cysfs*26)" "30" "0000146570" "00000864" "97" "2477" "0" "2477" "0" "c.2477T>C" "r.(?)" "p.(Leu826Pro)" "19" "0000146571" "00000864" "97" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Met562Thr)" "13" "0000146572" "00000864" "99" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(Tyr1069*)" "23" "0000146573" "00000864" "99" "3717" "0" "3717" "0" "c.3717T>G" "r.(?)" "p.(Tyr1239*)" "26" "0000146574" "00000864" "99" "1" "0" "2416" "-2" "c.2416-2_1delAG" "r.spl" "p.?" "17i" "0000146575" "00000864" "99" "3307" "-1006" "3882" "1582" "c.3307-1006_3882+1582del" "r.(?)" "p.(Ser1103_Lys1294del)" "23i_27i" "0000146576" "00000864" "97" "998" "2" "998" "2" "c.998+2del" "r.spl" "p.?" "8i" "0000146577" "00000864" "11" "2835" "0" "2835" "0" "c.2835C>T" "r.(?)" "p.(=)" "22" "0000146578" "00000864" "99" "3399" "0" "3399" "0" "c.3399C>T" "r.(=)" "p.(Gly1133=)" "24" "0000146579" "00000864" "55" "346" "-6" "346" "-6" "c.346-6G>A" "r.(=)" "p.(=)" "3i" "0000146580" "00000864" "11" "3978" "0" "3978" "0" "c.3978C>T" "r.(?)" "p.(Asp1326=)" "28" "0000146581" "00000864" "55" "1491" "0" "1491" "0" "c.1491C>A" "r.(?)" "p.(Asn497Lys)" "12" "0000146582" "00000864" "55" "3999" "0" "3999" "0" "c.3999G>A" "r.(?)" "p.(Asp1326=)" "28" "0000146583" "00000864" "99" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Gln749*)" "17" "0000146584" "00000864" "99" "2974" "0" "2974" "0" "c.2974G>C" "r.(?)" "p.(Gly992Arg)" "22" "0000146585" "00000864" "55" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Leu248Phe)" "7" "0000146586" "00000864" "55" "3381" "0" "3381" "0" "c.3381G>A" "r.(?)" "p.(Met1127Ile)" "24" "0000146587" "00000864" "55" "4448" "0" "4448" "0" "c.4448C>T" "r.(?)" "p.(Pro1483Leu)" "31" "0000146588" "00000864" "55" "3971" "0" "3971" "0" "c.3971G>A" "r.(?)" "p.(Trp1324*)" "28" "0000146589" "00000864" "99" "2511" "0" "2511" "0" "c.2511C>A" "r.(?)" "p.(Tyr837*)" "19" "0000146590" "00000864" "11" "1432" "-41" "1432" "-41" "c.1432-41A>G" "r.(=)" "p.(=)" "11i" "0000146591" "00000864" "11" "3883" "-46" "3883" "-46" "c.3883-46A>G" "r.(=)" "p.(=)" "27i" "0000146592" "00000864" "11" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Val614Ala)" "14" "0000146593" "00000864" "11" "4529" "0" "4529" "0" "c.*17G>A" "r.(=)" "p.(=)" "31" "0000146594" "00000864" "99" "4529" "0" "4529" "0" "c.*17G>A" "r.(=)" "p.(=)" "31" "0000146595" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146596" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146597" "00000864" "99" "3883" "-46" "3883" "-46" "c.3883-46A>G" "r.(=)" "p.(=)" "27i" "0000146598" "00000864" "11" "549" "0" "549" "0" "c.549G>A" "r.(?)" "p.(Leu183=)" "2" "0000146599" "00000864" "99" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259Glyfs*14)" "27" "0000146600" "00000864" "11" "549" "0" "549" "0" "c.549G>A" "r.(?)" "p.(Leu183=)" "2" "0000146601" "00000864" "11" "1432" "-41" "1432" "-41" "c.1432-41A>G" "r.(=)" "p.(=)" "11i" "0000146602" "00000864" "11" "3633" "90" "3633" "90" "c.3633+90G>A" "r.(=)" "p.(=)" "25i" "0000146603" "00000864" "55" "2018" "0" "2018" "0" "c.2018T>C" "r.(?)" "p.(Leu673Pro)" "16" "0000146604" "00000864" "55" "1338" "1501" "1338" "1501" "c.1338+1501G>A" "r.(=)" "p.(=)" "10i" "0000146605" "00000864" "55" "1338" "1548" "1338" "1548" "c.1338+1548C>T" "r.(=)" "p.(=)" "10i" "0000146606" "00000864" "55" "1338" "2152" "1338" "2152" "c.1338+2152G>T" "r.(=)" "p.(=)" "10i" "0000146607" "00000864" "55" "1338" "2281" "1338" "2281" "c.1338+2281A>C" "r.(=)" "p.(=)" "10i" "0000146608" "00000864" "55" "1338" "2346" "1338" "2346" "c.1338+2346A>G" "r.(=)" "p.(=)" "10i" "0000146609" "00000864" "55" "1339" "-1977" "1339" "-1977" "c.1339-1977G>A" "r.(=)" "p.(=)" "10i" "0000146610" "00000864" "55" "1339" "-2347" "1339" "-2347" "c.1339-2347C>G" "r.(=)" "p.(=)" "10i" "0000146611" "00000864" "55" "1432" "-215" "1432" "-215" "c.1432-215A>G" "r.(=)" "p.(=)" "11i" "0000146612" "00000864" "55" "1432" "-48" "1432" "-48" "c.1432-48G>A" "r.(=)" "p.(=)" "11i" "0000146613" "00000864" "55" "1636" "-112" "1636" "-112" "c.1636-112C>T" "r.(=)" "p.(=)" "12i" "0000146614" "00000864" "55" "1636" "-240" "1636" "-240" "c.1636-240G>A" "r.(=)" "p.(=)" "12i" "0000146615" "00000864" "55" "1779" "381" "1779" "381" "c.1779+381C>T" "r.(=)" "p.(=)" "13i" "0000146616" "00000864" "55" "1780" "-86" "1780" "-86" "c.1780-86G>T" "r.(=)" "p.(=)" "13i" "0000146617" "00000864" "55" "1867" "205" "1867" "205" "c.1867+205C>G" "r.(=)" "p.(=)" "14i" "0000146618" "00000864" "55" "1867" "576" "1867" "576" "c.1867+576G>A" "r.(=)" "p.(=)" "14i" "0000146619" "00000864" "55" "1867" "60" "1867" "60" "c.1867+60A>G" "r.(=)" "p.(=)" "14i" "0000146620" "00000864" "55" "1868" "-157" "1868" "-157" "c.1868-157C>G" "r.(=)" "p.(=)" "14i" "0000146621" "00000864" "55" "1868" "-392" "1868" "-392" "c.1868-392C>T" "r.(=)" "p.(=)" "14i" "0000146622" "00000864" "55" "1868" "-823" "1868" "-823" "c.1868-823C>T" "r.(=)" "p.(=)" "14i" "0000146623" "00000864" "55" "1943" "121" "1943" "121" "c.1943+121T>A" "r.(=)" "p.(=)" "15i" "0000146624" "00000864" "55" "1943" "766" "1943" "766" "c.1943+766G>A" "r.(=)" "p.(=)" "15i" "0000146625" "00000864" "55" "1944" "-177" "1944" "-177" "c.1944-177G>A" "r.(=)" "p.(=)" "15i" "0000146626" "00000864" "55" "1944" "-898" "1944" "-898" "c.1944-898C>T" "r.(=)" "p.(=)" "15i" "0000146627" "00000864" "55" "1994" "0" "1994" "0" "c.1994T>C" "r.(?)" "p.(Val665Ala)" "16" "0000146628" "00000864" "55" "2247" "302" "2247" "302" "c.2247+302C>T" "r.(=)" "p.(=)" "17i" "0000146629" "00000864" "55" "2247" "857" "2247" "857" "c.2247+857C>T" "r.(=)" "p.(=)" "17i" "0000146630" "00000864" "55" "2248" "-1384" "2248" "-1384" "c.2248-1384G>C" "r.(=)" "p.(=)" "17i" "0000146631" "00000864" "55" "2248" "-552" "2248" "-552" "c.2248-552G>A" "r.(=)" "p.(=)" "17i" "0000146632" "00000864" "55" "2415" "147" "2415" "147" "c.2415+147C>T" "r.(=)" "p.(=)" "18i" "0000146633" "00000864" "15" "2542" "0" "2542" "0" "c.2542A>G" "r.(?)" "p.(Met848Val)" "19" "0000146634" "00000864" "55" "2590" "405" "2590" "405" "c.2590+405G>A" "r.(=)" "p.(=)" "19i" "0000146635" "00000864" "55" "2590" "459" "2590" "459" "c.2590+459G>A" "r.(=)" "p.(=)" "19i" "0000146636" "00000864" "55" "2591" "-119" "2591" "-119" "c.2591-119C>T" "r.(=)" "p.(=)" "19i" "0000146637" "00000864" "55" "2591" "-203" "2591" "-203" "c.2591-203T>C" "r.(=)" "p.(=)" "19i" "0000146638" "00000864" "55" "2591" "-331" "2591" "-331" "c.2591-331A>G" "r.(=)" "p.(=)" "19i" "0000146639" "00000864" "55" "2666" "198" "2666" "198" "c.2666+198T>C" "r.(=)" "p.(=)" "20i" "0000146640" "00000864" "55" "2666" "499" "2666" "499" "c.2666+499C>T" "r.(=)" "p.(=)" "20i" "0000146641" "00000864" "55" "2666" "900" "2666" "900" "c.2666+900C>T" "r.(=)" "p.(=)" "20i" "0000146642" "00000864" "55" "2695" "0" "2695" "0" "c.2695C>G" "r.(?)" "p.(Arg899Gly)" "21" "0000146643" "00000864" "55" "2787" "1427" "2787" "1427" "c.2787+1427C>G" "r.(=)" "p.(=)" "21i" "0000146644" "00000864" "55" "2787" "1580" "2787" "1580" "c.2787+1580G>T" "r.(=)" "p.(=)" "21i" "0000146645" "00000864" "55" "2787" "62" "2787" "62" "c.2787+62T>C" "r.(=)" "p.(=)" "21i" "0000146646" "00000864" "55" "2788" "-127" "2788" "-127" "c.2788-127A>G" "r.(=)" "p.(=)" "21i" "0000146647" "00000864" "55" "2788" "-388" "2788" "-388" "c.2788-388A>C" "r.(=)" "p.(=)" "21i" "0000146648" "00000864" "55" "2788" "-706" "2788" "-706" "c.2788-706T>C" "r.(=)" "p.(=)" "21i" "0000146649" "00000864" "55" "2995" "1329" "2995" "1329" "c.2995+1329G>A" "r.(=)" "p.(=)" "22i" "0000146650" "00000864" "55" "2995" "142" "2995" "142" "c.2995+142C>T" "r.(=)" "p.(=)" "22i" "0000146651" "00000864" "55" "2995" "931" "2995" "931" "c.2995+931C>T" "r.(=)" "p.(=)" "22i" "0000146652" "00000864" "55" "2996" "-1028" "2996" "-1028" "c.2996-1028G>T" "r.(=)" "p.(=)" "22i" "0000146653" "00000864" "55" "2996" "-1213" "2996" "-1213" "c.2996-1213G>A" "r.(=)" "p.(=)" "22i" "0000146654" "00000864" "55" "2996" "-1353" "2996" "-1353" "c.2996-1353G>A" "r.(=)" "p.(=)" "22i" "0000146655" "00000864" "55" "2996" "-1380" "2996" "-1380" "c.2996-1380C>G" "r.(=)" "p.(=)" "22i" "0000146656" "00000864" "55" "2996" "-1461" "2996" "-1461" "c.2996-1461G>A" "r.(=)" "p.(=)" "22i" "0000146657" "00000864" "55" "2996" "-552" "2996" "-552" "c.2996-552G>A" "r.(=)" "p.(=)" "22i" "0000146658" "00000864" "55" "2996" "-637" "2996" "-637" "c.2996-637G>A" "r.(=)" "p.(=)" "22i" "0000146659" "00000864" "55" "2996" "-653" "2996" "-653" "c.2996-653T>C" "r.(=)" "p.(=)" "22i" "0000146660" "00000864" "55" "3306" "531" "3306" "531" "c.3306+531C>T" "r.(=)" "p.(=)" "23i" "0000146661" "00000864" "55" "3306" "650" "3306" "650" "c.3306+650A>G" "r.(=)" "p.(=)" "23i" "0000146662" "00000864" "55" "3306" "855" "3306" "855" "c.3306+855G>T" "r.(=)" "p.(=)" "23i" "0000146663" "00000864" "55" "3307" "-1124" "3307" "-1124" "c.3307-1124C>T" "r.(=)" "p.(=)" "23i" "0000146664" "00000864" "55" "3307" "-361" "3307" "-361" "c.3307-361G>T" "r.(=)" "p.(=)" "23i" "0000146665" "00000864" "55" "3307" "-897" "3307" "-897" "c.3307-897T>V" "r.(?)" "p.(=)" "23i" "0000146666" "00000864" "55" "3506" "172" "3506" "172" "c.3506+172C>T" "r.(=)" "p.(=)" "24i" "0000146667" "00000864" "55" "3633" "529" "3633" "529" "c.3633+529A>G" "r.(=)" "p.(=)" "25i" "0000146668" "00000864" "55" "3634" "-130" "3634" "-130" "c.3634-130G>A" "r.(=)" "p.(=)" "25i" "0000146669" "00000864" "55" "3634" "-394" "3634" "-394" "c.3634-394C>T" "r.(=)" "p.(=)" "25i" "0000146670" "00000864" "55" "3634" "-506" "3634" "-506" "c.3634-506G>A" "r.(=)" "p.(=)" "25i" "0000146671" "00000864" "55" "3735" "643" "3735" "643" "c.3735+643A>G" "r.(=)" "p.(=)" "26i" "0000146672" "00000864" "55" "3736" "-233" "3736" "-233" "c.3736-233A>C" "r.(=)" "p.(=)" "26i" "0000146673" "00000864" "55" "3736" "-334" "3736" "-334" "c.3736-334A>C" "r.(=)" "p.(=)" "26i" "0000146674" "00000864" "55" "3736" "-502" "3736" "-502" "c.3736-502C>T" "r.(=)" "p.(=)" "26i" "0000146675" "00000864" "55" "3736" "-716" "3736" "-716" "c.3736-716G>T" "r.(=)" "p.(=)" "26i" "0000146676" "00000864" "55" "3882" "531" "3882" "531" "c.3882+531C>T" "r.(=)" "p.(=)" "27i" "0000146677" "00000864" "55" "3882" "922" "3882" "922" "c.3882+922G>C" "r.(=)" "p.(=)" "27i" "0000146678" "00000864" "55" "4208" "1014" "4208" "1014" "c.4208+1014T>A" "r.(=)" "p.(=)" "29i" "0000146679" "00000864" "55" "4209" "-110" "4209" "-110" "c.4209-110C>T" "r.(=)" "p.(=)" "29i" "0000146681" "00000864" "55" "1258" "0" "1258" "0" "c.1258C>G" "r.(?)" "p.(Leu420Val)" "10" "0000146682" "00000864" "99" "2996" "-1" "4208" "1" "c.2996-?_4208+?del" "r.(=)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146683" "00000864" "99" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "28" "0000146684" "00000864" "99" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146685" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146686" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146687" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146688" "00000864" "99" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146689" "00000864" "55" "951" "0" "951" "0" "c.951C>R" "r.(?)" "p.(Ser317Arg)" "8" "0000146690" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146691" "00000864" "55" "4501" "0" "4501" "0" "c.4501G>A" "r.(?)" "p.(Gly1501Ser)" "31" "0000146692" "00000864" "99" "2237" "0" "2238" "0" "c.2237_2238insGGTGCAGAGT" "r.(?)" "p.(Ile746Metfs*36)" "17" "0000146693" "00000864" "99" "3912" "0" "3912" "0" "c.3912del" "r.(?)" "p.(Lys1305Serfs*54)" "28" "0000146694" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146695" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146696" "00000864" "55" "105" "0" "105" "0" "c.105del" "r.(?)" "p.(Val37Serfs*44)" "2" "0000146697" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146698" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146699" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146700" "00000864" "55" "179" "0" "187" "0" "c.179_187del" "r.(?)" "p.(Arg60_Tyr62del)" "2" "0000146701" "00000864" "55" "179" "0" "187" "0" "c.179_187del" "r.(?)" "p.(Arg60_Tyr62del)" "2" "0000146702" "00000864" "99" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221His)" "26" "0000146703" "00000864" "55" "998" "2" "998" "3" "c.998+2_998+3del" "r.spl" "p.?" "8i" "0000146704" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146705" "00000864" "55" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "28" "0000146706" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146707" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146708" "00000864" "55" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "21i" "0000146709" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146710" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146711" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146712" "00000864" "59" "938" "0" "938" "0" "c.938dup" "r.(?)" "p.(Thr315Aspfs*8)" "8" "0000146713" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146714" "00000864" "55" "3912" "0" "3912" "0" "c.3912del" "r.(?)" "p.(Lys1305Serfs*54)" "28" "0000146715" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146716" "00000864" "99" "1091" "0" "1091" "0" "c.1091C>G" "r.(?)" "p.(Thr364Arg)" "9" "0000146717" "00000864" "99" "1091" "0" "1091" "0" "c.1091C>G" "r.(?)" "p.(Thr364Arg)" "9" "0000146718" "00000864" "99" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146719" "00000864" "99" "1603" "0" "1603" "0" "c.1603T>C" "r.(?)" "p.(Ser535Pro)" "12" "0000146720" "00000864" "55" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "21i" "0000146721" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146722" "00000864" "99" "3389" "0" "3389" "0" "c.3389C>T" "r.(?)" "p.(Thr1130Met)" "24" "0000146723" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146724" "00000864" "99" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "9" "0000146725" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146726" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146727" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146728" "00000864" "99" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146729" "00000864" "99" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Arg1221Cys)" "26" "0000146730" "00000864" "99" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Arg1221Cys)" "26" "0000146731" "00000864" "99" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Arg382Trp)" "9" "0000146732" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146733" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146734" "00000864" "99" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518*)" "12" "0000146735" "00000864" "99" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "28" "0000146736" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146737" "00000864" "99" "4004" "0" "4004" "0" "c.4004T>A" "r.(?)" "p.(Leu1335Gln)" "28" "0000146738" "00000864" "99" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146739" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146740" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146741" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146742" "00000864" "99" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146743" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146744" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146745" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146746" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146747" "00000864" "99" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Tyr768*)" "18" "0000146748" "00000864" "99" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Tyr768*)" "18" "0000146749" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146750" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146751" "00000864" "55" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146752" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146753" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146754" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146755" "00000864" "99" "4104" "0" "4104" "0" "c.4104del" "r.(?)" "p.(Asp1368Glufs*35)" "29" "0000146756" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146757" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146758" "00000864" "55" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "28" "0000146759" "00000864" "55" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "21i" "0000146760" "00000864" "55" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Arg1138Trp)" "24" "0000146761" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146762" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146763" "00000864" "55" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Tyr768*)" "18" "0000146764" "00000864" "55" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146765" "00000864" "55" "4016" "0" "4016" "0" "c.4016G>A" "r.(?)" "p.(Arg1339His)" "28" "0000146766" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146767" "00000864" "55" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146768" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146769" "00000864" "97" "3883" "-5" "3883" "-5" "c.3883-5G>A" "r.spl" "p.?" "27i" "0000146770" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146771" "00000864" "97" "2070" "5" "2070" "5" "c.2070+5G>A" "r.spl" "p.?" "16i" "0000146772" "00000864" "55" "4335" "0" "4335" "0" "c.4335del" "r.(?)" "p.(Ser1446Alafs*18)" "30" "0000146773" "00000864" "99" "4069" "0" "4069" "0" "c.4069C>T" "r.(?)" "p.(Arg1357Trp)" "29" "0000146774" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146775" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146776" "00000864" "55" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "22" "0000146777" "00000864" "55" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Ala78Thr)" "30i" "0000146778" "00000864" "55" "4192" "0" "4192" "0" "c.4192C>T" "r.(?)" "p.(Arg1398*)" "29" "0000146779" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146780" "00000864" "97" "4025" "0" "4025" "0" "c.4025T>C" "r.(?)" "p.(Ile1342Thr)" "28" "0000146781" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146782" "00000864" "55" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146783" "00000864" "55" "2263" "0" "2263" "0" "c.2263G>A" "r.(?)" "p.(Gly755Arg)" "18" "0000146784" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146785" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146786" "00000864" "99" "3774" "0" "3774" "0" "c.3774dup" "r.(?)" "p.(Trp1259Leufs*19)" "27" "0000146787" "00000864" "97" "2097" "0" "2097" "0" "c.2097G>T" "r.(?)" "p.(Glu699Asp)" "17" "0000146788" "00000864" "55" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146789" "00000864" "55" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146790" "00000864" "99" "4004" "0" "4004" "0" "c.4004T>C" "r.(?)" "p.(Leu1335Pro)" "28" "0000146791" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146792" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146793" "00000864" "99" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Tyr768*)" "18" "0000146794" "00000864" "55" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146795" "00000864" "99" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Tyr768*)" "18" "0000146796" "00000864" "99" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164*)" "24" "0000146797" "00000864" "99" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "21i" "0000146798" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146799" "00000864" "55" "4016" "0" "4016" "0" "c.4016G>A" "r.(?)" "p.(Arg1339His)" "28" "0000146800" "00000864" "55" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.(?)" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146801" "00000864" "55" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146802" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146803" "00000864" "55" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146804" "00000864" "55" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146805" "00000864" "55" "998" "2" "998" "3" "c.998+2_998+3del" "r.spl" "p.?" "8i" "0000146806" "00000864" "11" "4529" "0" "4529" "0" "c.*17G>A" "r.(=)" "p.(=)" "31" "0000146807" "00000864" "99" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "21i" "0000146808" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146809" "00000864" "11" "4529" "0" "4529" "0" "c.*17G>A" "r.(=)" "p.(=)" "31" "0000146810" "00000864" "99" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "21i" "0000146811" "00000864" "11" "4042" "49" "4042" "49" "c.4042+49C>T" "r.(=)" "p.(=)" "28i" "0000146812" "00000864" "99" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146813" "00000864" "11" "2490" "0" "2490" "0" "c.2490C>T" "r.(?)" "p.(Ala830=)" "19" "0000146814" "00000864" "11" "4042" "49" "4042" "49" "c.4042+49C>T" "r.(=)" "p.(=)" "28i" "0000146815" "00000864" "99" "3341" "0" "3341" "0" "c.3341G>C" "r.(?)" "p.(Arg1114Pro)" "24" "0000146816" "00000864" "99" "3341" "0" "3341" "0" "c.3341G>C" "r.(?)" "p.(Arg1114Pro)" "24" "0000146817" "00000864" "99" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146818" "00000864" "99" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146819" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146820" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146821" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146822" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146823" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146824" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146825" "00000864" "11" "1432" "-41" "1432" "-41" "c.1432-41A>G" "r.(=)" "p.(=)" "11i" "0000146826" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146827" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146828" "00000864" "11" "3883" "-46" "3883" "-46" "c.3883-46A>G" "r.(=)" "p.(=)" "27i" "0000146829" "00000864" "11" "4042" "49" "4042" "49" "c.4042+49C>T" "r.(=)" "p.(=)" "28i" "0000146830" "00000864" "99" "4220" "0" "4221" "0" "c.4220_4221insGAAA" "r.(?)" "p.(Gln1408Lysfs*121)" "" "0000146831" "00000864" "99" "4220" "0" "4221" "0" "c.4220_4221insGAAA" "r.(?)" "p.(Gln1408Lysfs*121)" "30" "0000146832" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146833" "00000864" "75" "3507" "-3" "3507" "-3" "c.3507-3C>T" "r.spl?" "p.(?)" "24i" "0000146834" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146835" "00000864" "99" "3341" "0" "3341" "0" "c.3341G>C" "r.(?)" "p.(Arg1114Pro)" "24" "0000146836" "00000864" "99" "0" "0" "0" "0" "c.(2995+1_2996-1)_(4208+1_42091-)del" "r.?" "p.?" "22i_29i" "0000146839" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000146840" "00000864" "90" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221His)" "26" "0000146841" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146842" "00000864" "90" "3341" "0" "3341" "0" "c.3341G>A" "r.(?)" "p.(Arg1114His)" "24" "0000146843" "00000864" "90" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146844" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146845" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146846" "00000864" "90" "113" "0" "113" "0" "c.113G>C" "r.(?)" "p.(Trp38Ser)" "2" "0000146847" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000146848" "00000864" "90" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146849" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146850" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146851" "00000864" "90" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146852" "00000864" "90" "3712" "0" "3712" "0" "c.3712G>C" "r.(?)" "p.(Asp1238His)" "26" "0000146853" "00000864" "90" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Arg1164Gln)" "24" "0000146854" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146855" "00000864" "90" "1703" "0" "1703" "0" "c.1703T>C" "r.(?)" "p.(Phe568Ser)" "13" "0000146856" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146857" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000146858" "00000864" "90" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Arg1138Trp)" "24" "0000146859" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146860" "00000864" "90" "3340" "0" "3340" "0" "c.3340C>T" "r.(?)" "p.(Arg1114Cys)" "24" "0000146861" "00000864" "90" "3777" "0" "3777" "0" "c.3777G>A" "r.(?)" "p.(Trp1259*)" "27" "0000146862" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146863" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146864" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146865" "00000864" "90" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487Gln)" "12" "0000146866" "00000864" "90" "1999" "0" "1999" "0" "c.1999del" "r.(?)" "p.(Ala667Glnfs*21)" "16" "0000146867" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146868" "00000864" "90" "1526" "0" "1526" "0" "c.1526C>G" "r.(?)" "p.(Ala509Gly)" "12" "0000146869" "00000864" "90" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "21i" "0000146870" "00000864" "90" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Leu248Phe)" "7" "0000146871" "00000864" "90" "36" "1" "36" "1" "c.36+1G>T" "r.spl" "p.?" "1i" "0000146872" "00000864" "90" "3389" "0" "3389" "0" "c.3389C>T" "r.(?)" "p.(Thr1130Met)" "24" "0000146873" "00000864" "90" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146874" "00000864" "90" "1999" "0" "1999" "0" "c.1999del" "r.(?)" "p.(Ala667Glnfs*21)" "16" "0000146875" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146876" "00000864" "90" "1868" "-5" "1868" "-5" "c.1868-5T>G" "r.spl" "p.?" "14i" "0000146877" "00000864" "90" "2263" "0" "2263" "0" "c.2263G>A" "r.(?)" "p.(Gly755Arg)" "18" "0000146878" "00000864" "90" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "9" "0000146879" "00000864" "90" "3816" "0" "3828" "0" "c.3816_3828dup" "r.(?)" "p.(Glu1277Lysfs*5)" "27" "0000146880" "00000864" "90" "2420" "0" "2420" "0" "c.2420G>A" "r.(?)" "p.(Arg807Gln)" "19" "0000146881" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146882" "00000864" "90" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146883" "00000864" "90" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "29" "0000146884" "00000864" "90" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "29" "0000146885" "00000864" "90" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221His)" "26" "0000146886" "00000864" "90" "2252" "0" "2252" "0" "c.2252T>A" "r.(?)" "p.(Met751Lys)" "18" "0000146887" "00000864" "90" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "29" "0000146888" "00000864" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518*)" "12" "0000146889" "00000864" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518*)" "12" "0000146890" "00000864" "90" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.?" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146891" "00000864" "90" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Arg1221Cys)" "26" "0000146892" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146893" "00000864" "90" "3475" "0" "3475" "0" "c.3475A>G" "r.(?)" "p.(Arg1159Gly)" "24" "0000146894" "00000864" "90" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Leu248Phe)" "7" "0000146895" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000146896" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146897" "00000864" "90" "2252" "0" "2252" "0" "c.2252T>A" "r.(?)" "p.(Met751Lys)" "18" "0000146898" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146899" "00000864" "90" "1484" "0" "1484" "0" "c.1484T>A" "r.(?)" "p.(Leu495His)" "12" "0000146900" "00000864" "90" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "29" "0000146901" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146902" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146903" "00000864" "90" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "9" "0000146904" "00000864" "90" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "9" "0000146905" "00000864" "90" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "9" "0000146906" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000146907" "00000864" "90" "2420" "0" "2420" "0" "c.2420G>A" "r.(?)" "p.(Arg807Gln)" "19" "0000146908" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146909" "00000864" "90" "2784" "0" "2784" "0" "c.2784C>T" "r.spl" "p.(Gly928=)" "21" "0000146910" "00000864" "90" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "29" "0000146911" "00000864" "90" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.?" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146912" "00000864" "90" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221His)" "26" "0000146913" "00000864" "90" "2432" "0" "2432" "0" "c.2432C>G" "r.(?)" "p.(Thr811Arg)" "19" "0000146914" "00000864" "90" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259Glyfs*14)" "27" "0000146915" "00000864" "90" "3774" "0" "3774" "0" "c.3774dup" "r.(?)" "p.(Trp1259Leufs*19)" "27" "0000146916" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146917" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146918" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146919" "00000864" "90" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "24" "0000146920" "00000864" "90" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146921" "00000864" "90" "3736" "-1" "3736" "-1" "c.3736-1G>A" "r.spl" "p.?" "26i" "0000146922" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146923" "00000864" "90" "3712" "0" "3712" "0" "c.3712G>C" "r.(?)" "p.(Asp1238His)" "26" "0000146924" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146925" "00000864" "90" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "29" "0000146926" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146927" "00000864" "90" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000146928" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146929" "00000864" "90" "3777" "0" "3777" "0" "c.3777G>A" "r.(?)" "p.(Trp1259*)" "27" "0000146930" "00000864" "90" "3712" "0" "3712" "0" "c.3712G>C" "r.(?)" "p.(Asp1238His)" "26" "0000146931" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146932" "00000864" "90" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Arg1164Gln)" "24" "0000146933" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146934" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146935" "00000864" "90" "3907" "0" "3907" "0" "c.3907G>C" "r.(?)" "p.(Ala1303Pro)" "28" "0000146936" "00000864" "90" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.?" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146937" "00000864" "90" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146938" "00000864" "90" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146939" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146940" "00000864" "90" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146941" "00000864" "90" "1999" "0" "1999" "0" "c.1999del" "r.(?)" "p.(Ala667Glnfs*21)" "16" "0000146942" "00000864" "90" "4004" "0" "4004" "0" "c.4004T>A" "r.(?)" "p.(Leu1335Gln)" "28" "0000146943" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146944" "00000864" "90" "2263" "0" "2263" "0" "c.2263G>A" "r.(?)" "p.(Gly755Arg)" "18" "0000146945" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146946" "00000864" "90" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.?" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146947" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146948" "00000864" "90" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146949" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "12" "0000146950" "00000864" "90" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221His)" "26" "0000146951" "00000864" "90" "2279" "0" "2279" "0" "c.2279G>A" "r.(?)" "p.(Arg760Gln)" "18" "0000146952" "00000864" "90" "3953" "0" "3953" "0" "c.3953C>G" "r.(?)" "p.(Ala1318Gly)" "28" "0000146953" "00000864" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518*)" "12" "0000146954" "00000864" "90" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.?" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146955" "00000864" "90" "4192" "0" "4192" "0" "c.4192C>T" "r.(?)" "p.(Arg1398*)" "29" "0000146956" "00000864" "90" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.?" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146957" "00000864" "90" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "29" "0000146958" "00000864" "90" "2996" "-1724" "4209" "-478" "c.2996-1724_4209-478del" "r.?" "p.(Ile1000Trpfs*60)" "22i_29i" "0000146959" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146960" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146961" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146962" "00000864" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518*)" "12" "0000146963" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146964" "00000864" "90" "2293" "0" "2293" "0" "c.2293C>T" "r.(?)" "p.(Arg765Trp)" "18" "0000146965" "00000864" "90" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "29" "0000146966" "00000864" "90" "1944" "-1" "1944" "-1" "c.1944-1G>C" "r.spl" "p.?" "15i" "0000146967" "00000864" "90" "3143" "0" "3145" "0" "c.3143_3145del" "r.(?)" "p.(Phe1048del)" "23" "0000146968" "00000864" "90" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "28" "0000146969" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146970" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000146971" "00000864" "90" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "29" "0000163351" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163352" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163353" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163354" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163355" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163356" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163357" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163358" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163359" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163360" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163361" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163362" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163363" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163364" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163365" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163366" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163367" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163368" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163369" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163370" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163371" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163372" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163373" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163374" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163375" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163376" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163377" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163378" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163379" "00000864" "90" "2542" "0" "2542" "0" "c.2542delG" "r.(?)" "p.(Val848Cysfs*83)" "19" "0000163380" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163381" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163382" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163383" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163384" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163385" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163386" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163387" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163388" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163389" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163390" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163391" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163392" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163393" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163394" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163395" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163396" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163397" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163398" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163399" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163400" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163401" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163402" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163403" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163404" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163405" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163406" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163407" "00000864" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199*)" "5" "0000163408" "00000864" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199*)" "5" "0000163409" "00000864" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199*)" "5" "0000163410" "00000864" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199*)" "5" "0000163411" "00000864" "90" "3936" "0" "3936" "0" "c.3936dup" "r.(?)" "p.(Leu1313Alafs*8)" "28" "0000163412" "00000864" "90" "3936" "0" "3936" "0" "c.3936dup" "r.(?)" "p.(Leu1313Alafs*8)" "28" "0000163413" "00000864" "90" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "10" "0000163414" "00000864" "90" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "10" "0000163415" "00000864" "90" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "10" "0000163416" "00000864" "90" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "10" "0000163417" "00000864" "90" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "10" "0000163418" "00000864" "90" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Arg1138Trp)" "24" "0000163419" "00000864" "70" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Arg1164Gln)" "24" "0000163420" "00000864" "90" "3533" "0" "3533" "0" "c.3533T>C" "r.(?)" "p.(Leu1178Pro)" "25" "0000163421" "00000864" "70" "2477" "0" "2477" "0" "c.2477T>C" "r.(?)" "p.(Leu826Pro)" "19" "0000163422" "00000864" "90" "1987" "0" "1987" "0" "c.1987G>A" "r.(?)" "p.(Gly663Ser)" "16" "0000163423" "00000864" "90" "4279" "0" "4279" "0" "c.4279G>A" "r.(?)" "p.(Glu1427Lys)" "30" "0000163424" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163425" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163426" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163427" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163428" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "9" "0000163429" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163430" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163431" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163432" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163433" "00000864" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199*)" "5" "0000163434" "00000864" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199*)" "5" "0000163435" "00000864" "90" "994" "0" "994" "0" "c.994del" "r.(?)" "p.(Leu332Serfs*24)" "8" "0000163436" "00000864" "90" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "10" "0000163437" "00000864" "90" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489Trp)" "12" "0000163438" "00000864" "90" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Cys)" "28" "0000163439" "00000864" "90" "4279" "0" "4279" "0" "c.4279G>A" "r.(?)" "p.(Glu1427Lys)" "30" "0000163440" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163441" "00000864" "90" "-37" "0" "474" "1" "c.(?_-37)_(474+1_475-1)del" "r.0?" "p.0?" "_1_4i" "0000163442" "00000864" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199*)" "5" "0000163443" "00000864" "90" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Arg1138Trp)" "24" "0000163444" "00000864" "90" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "10" "0000163445" "00000864" "90" "3107" "0" "3107" "0" "c.3107T>C" "r.(?)" "p.(Phe1036Ser)" "23" "0000163446" "00000864" "90" "4069" "0" "4069" "0" "c.4069C>T" "r.(?)" "p.(Arg1357Trp)" "29" "0000163447" "00000864" "90" "4069" "0" "4069" "0" "c.4069C>T" "r.(?)" "p.(Arg1357Trp)" "29" "0000163448" "00000864" "70" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Ala263Ser)" "7" "0000163449" "00000864" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199*)" "5" "0000163450" "00000864" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199*)" "5" "0000163451" "00000864" "90" "4279" "0" "4279" "0" "c.4279G>A" "r.(?)" "p.(Glu1427Lys)" "30" "0000163452" "00000864" "90" "280" "0" "281" "0" "c.280_281insG" "r.(?)" "p.(Ile94Serfs*7)" "3" "0000163453" "00000864" "90" "4069" "0" "4069" "0" "c.4069C>T" "r.(?)" "p.(Arg1357Trp)" "29" "0000163454" "00000864" "90" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Arg1138Trp)" "24" "0000163455" "00000864" "90" "4376" "0" "4376" "0" "c.4376G>A" "r.(?)" "p.(Arg1459His)" "30" "0000163456" "00000864" "99" "4060" "0" "4060" "0" "c.4060G>C" "r.(?)" "p.(Gly1354Arg)" "29" "0000163457" "00000864" "99" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "24" "0000163458" "00000864" "50" "1091" "0" "1091" "0" "c.(1091C>G)" "r.(?)" "p.(Thr364Arg)" "9" "0000163459" "00000864" "50" "1077" "0" "1077" "0" "c.(1077A>G)" "r.(?)" "p.(Ser359=)" "9" "0000163460" "00000864" "50" "1141" "0" "1141" "0" "c.(1141T>C)" "r.(?)" "p.(Leu381=)" "9" "0000163461" "00000864" "50" "191" "0" "191" "0" "c.(191G>A)" "r.(?)" "p.(Arg64Gln)" "2" "0000163462" "00000864" "50" "196" "0" "196" "0" "c.(196dupT)" "r.(?)" "p.(Ser66Phefs*35)" "2" "0000163463" "00000864" "30" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Arg265Gly)" "7" "0000163464" "00000864" "30" "346" "-6" "346" "-6" "c.346-6G>A" "r.(?)" "p.(=)" "3i" "0000163465" "00000864" "30" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Ala78Thr)" "3" "0000163466" "00000864" "30" "-127" "0" "-127" "0" "c.-127C>T" "-" "-" "_1" "0000163467" "00000864" "30" "-132" "0" "-132" "0" "c.-132C>T" "-" "-" "_1" "0000163468" "00000864" "30" "-219" "0" "-219" "0" "c.-219A>C" "-" "-" "_1" "0000247420" "00000864" "50" "3461" "0" "3461" "0" "c.3461T>C" "r.(?)" "p.(Val1154Ala)" "" "0000248680" "00000864" "10" "1233" "0" "1233" "0" "c.1233T>C" "r.(?)" "p.(Asn411=)" "" "0000255999" "00000864" "50" "3989" "0" "3989" "0" "c.3989T>C" "r.(?)" "p.(Ile1330Thr)" "" "0000256980" "00000864" "10" "1248" "0" "1248" "0" "c.1248C>T" "r.(?)" "p.(Asp416=)" "" "0000256981" "00000864" "10" "1815" "0" "1815" "0" "c.1815C>T" "r.(?)" "p.(Leu605=)" "" "0000256982" "00000864" "30" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Ser618Asn)" "" "0000256983" "00000864" "10" "1943" "10" "1943" "10" "c.1943+10G>C" "r.(=)" "p.(=)" "" "0000256984" "00000864" "50" "1963" "0" "1963" "0" "c.1963C>A" "r.(?)" "p.(Gln655Lys)" "" "0000256985" "00000864" "50" "2125" "0" "2125" "0" "c.2125G>A" "r.(?)" "p.(Glu709Lys)" "" "0000256986" "00000864" "10" "2248" "-19" "2248" "-19" "c.2248-19G>C" "r.(=)" "p.(=)" "" "0000256987" "00000864" "10" "2707" "0" "2707" "0" "c.2707G>C" "r.(?)" "p.(Glu903Gln)" "" "0000256988" "00000864" "10" "2904" "0" "2904" "0" "c.2904G>A" "r.(?)" "p.(Leu968=)" "" "0000256989" "00000864" "10" "3289" "0" "3289" "0" "c.3289C>A" "r.(?)" "p.(Leu1097Ile)" "" "0000256990" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000256991" "00000864" "10" "3459" "0" "3459" "0" "c.3459C>T" "r.(?)" "p.(Arg1153=)" "" "0000256992" "00000864" "10" "3755" "0" "3755" "0" "c.3755C>T" "r.(?)" "p.(Thr1252Ile)" "" "0000256993" "00000864" "10" "3803" "0" "3803" "0" "c.3803G>A" "r.(?)" "p.(Arg1268Gln)" "" "0000256994" "00000864" "10" "3852" "0" "3852" "0" "c.3852C>T" "r.(?)" "p.(Gly1284=)" "" "0000256995" "00000864" "10" "3937" "0" "3937" "0" "c.3937C>T" "r.(?)" "p.(Leu1313=)" "" "0000256996" "00000864" "10" "3978" "0" "3978" "0" "c.3978C>T" "r.(?)" "p.(Asp1326=)" "" "0000256997" "00000864" "10" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.(Val13=)" "" "0000256998" "00000864" "50" "4105" "0" "4105" "0" "c.4105G>A" "r.(?)" "p.(Glu1369Lys)" "" "0000256999" "00000864" "10" "662" "12" "662" "12" "c.662+12C>T" "r.(=)" "p.(=)" "" "0000257000" "00000864" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Leu248Phe)" "" "0000257001" "00000864" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Gly277Ser)" "" "0000257002" "00000864" "30" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Ile319Val)" "" "0000258702" "00000864" "10" "3803" "0" "3803" "0" "c.3803G>A" "r.(?)" "p.(Arg1268Gln)" "" "0000258847" "00000864" "10" "1338" "20" "1338" "20" "c.1338+20C>G" "r.(=)" "p.(=)" "" "0000258848" "00000864" "10" "1338" "7" "1338" "7" "c.1338+7C>G" "r.(=)" "p.(=)" "" "0000258849" "00000864" "10" "2400" "0" "2400" "0" "c.2400=" "r.(=)" "p.(Gly800=)" "" "0000258850" "00000864" "10" "2542" "0" "2542" "0" "c.2542=" "r.(=)" "p.(Val848=)" "" "0000258851" "00000864" "10" "3507" "-3" "3507" "-3" "c.3507-3C>T" "r.spl?" "p.?" "" "0000258852" "00000864" "10" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Arg265Gly)" "" "0000259363" "00000864" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Asn428=)" "" "0000259364" "00000864" "30" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Val514Ile)" "" "0000261653" "00000864" "30" "117" "0" "117" "0" "c.117A>G" "r.(?)" "p.(Val39=)" "" "0000261654" "00000864" "30" "1248" "0" "1248" "0" "c.1248C>T" "r.(?)" "p.(Asp416=)" "" "0000261655" "00000864" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Asn428=)" "" "0000261656" "00000864" "50" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Gly529Ser)" "" "0000261657" "00000864" "90" "1944" "-1" "1944" "-1" "c.1944-1G>C" "r.spl?" "p.?" "" "0000261658" "00000864" "50" "1963" "0" "1963" "0" "c.1963C>A" "r.(?)" "p.(Gln655Lys)" "" "0000261659" "00000864" "10" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(Ile689=)" "" "0000261660" "00000864" "50" "2334" "0" "2334" "0" "c.2334C>A" "r.(?)" "p.(Asp778Glu)" "" "0000261661" "00000864" "10" "2707" "0" "2707" "0" "c.2707G>C" "r.(?)" "p.(Glu903Gln)" "" "0000261662" "00000864" "50" "2819" "0" "2819" "0" "c.2819G>A" "r.(?)" "p.(Arg940His)" "" "0000261663" "00000864" "30" "2904" "0" "2904" "0" "c.2904G>A" "r.(?)" "p.(Leu968=)" "" "0000261664" "00000864" "10" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064Trp)" "" "0000261665" "00000864" "30" "3207" "0" "3207" "0" "c.3207C>T" "r.(?)" "p.(Tyr1069=)" "" "0000261666" "00000864" "30" "3312" "0" "3312" "0" "c.3312G>C" "r.(?)" "p.(Leu1104=)" "" "0000261667" "00000864" "50" "3979" "0" "3979" "0" "c.3979G>A" "r.(?)" "p.(Gly1327Arg)" "" "0000261668" "00000864" "30" "4208" "9" "4208" "9" "c.4208+9G>A" "r.(=)" "p.(=)" "" "0000261669" "00000864" "30" "4254" "0" "4254" "0" "c.4254G>A" "r.(?)" "p.(Arg1418=)" "" "0000261670" "00000864" "30" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Ser169=)" "" "0000261671" "00000864" "30" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Ile319Val)" "" "0000324634" "00000864" "50" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Glu1400Lys)" "" "0000324635" "00000864" "50" "4182" "0" "4182" "0" "c.4182del" "r.(?)" "p.(Lys1394AsnfsTer9)" "" "0000324636" "00000864" "50" "4105" "0" "4105" "0" "c.4105G>A" "r.(?)" "p.(Glu1369Lys)" "" "0000324643" "00000864" "30" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Leu248Phe)" "" "0000339009" "00000864" "70" "4376" "0" "4376" "0" "c.4376G>A" "r.(?)" "p.(Arg1459His)" "" "0000339123" "00000864" "90" "4182" "0" "4182" "0" "c.4182del" "r.(?)" "p.(Lys1394AsnfsTer9)" "" "0000341751" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000347028" "00000864" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Leu248Phe)" "" "0000347117" "00000864" "70" "1064" "0" "1064" "0" "c.1064T>G" "r.(?)" "p.(Leu355Arg)" "" "0000499857" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.Arg1141*" "" "0000556898" "00000864" "10" "4529" "0" "4529" "0" "c.*17G>A" "r.(=)" "p.(=)" "" "0000556899" "00000864" "90" "4492" "0" "4492" "0" "c.4492C>T" "r.(?)" "p.(Gln1498Ter)" "" "0000556900" "00000864" "10" "4403" "16" "4403" "16" "c.4403+16C>T" "r.(=)" "p.(=)" "" "0000556901" "00000864" "10" "4254" "0" "4254" "0" "c.4254G>A" "r.(?)" "p.(Arg1418=)" "" "0000556902" "00000864" "10" "4208" "9" "4208" "9" "c.4208+9G>A" "r.(=)" "p.(=)" "" "0000556903" "00000864" "30" "4193" "0" "4193" "0" "c.4193G>A" "r.(?)" "p.(Arg1398Gln)" "" "0000556904" "00000864" "30" "4101" "0" "4101" "0" "c.4101G>A" "r.(?)" "p.(Ser1367=)" "" "0000556905" "00000864" "10" "4042" "-7" "4042" "-7" "c.4042-7C>T" "r.(=)" "p.(=)" "" "0000556906" "00000864" "30" "4011" "0" "4011" "0" "c.4011A>G" "r.(?)" "p.(Thr1337=)" "" "0000556907" "00000864" "30" "3980" "0" "3980" "0" "c.3980G>A" "r.(?)" "p.(Gly1327Glu)" "" "0000556908" "00000864" "50" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Gly1302Arg)" "" "0000556909" "00000864" "30" "3903" "0" "3903" "0" "c.3903C>T" "r.(?)" "p.(Thr1301=)" "" "0000556910" "00000864" "30" "3883" "-7" "3883" "-7" "c.3883-7C>T" "r.(=)" "p.(=)" "" "0000556911" "00000864" "10" "3871" "0" "3871" "0" "c.3871G>A" "r.(?)" "p.(Ala1291Thr)" "" "0000556913" "00000864" "30" "3822" "0" "3822" "0" "c.3822C>T" "r.(?)" "p.(Tyr1274=)" "" "0000556914" "00000864" "50" "3770" "0" "3770" "0" "c.3770C>A" "r.(?)" "p.(Pro1257His)" "" "0000556915" "00000864" "70" "3736" "-1" "3736" "-1" "c.3736-1G>A" "r.spl?" "p.?" "" "0000556916" "00000864" "50" "3557" "0" "3557" "0" "c.3557C>A" "r.(?)" "p.(Ala1186Asp)" "" "0000556917" "00000864" "30" "3507" "-3" "3507" "-3" "c.3507-3C>T" "r.spl?" "p.?" "" "0000556918" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000556919" "00000864" "30" "3289" "0" "3289" "0" "c.3289C>A" "r.(?)" "p.(Leu1097Ile)" "" "0000556921" "00000864" "30" "3168" "0" "3168" "0" "c.3168C>T" "r.(?)" "p.(Asp1056=)" "" "0000556922" "00000864" "50" "3145" "0" "3145" "0" "c.3145T>G" "r.(?)" "p.(Ser1049Ala)" "" "0000556924" "00000864" "30" "3024" "0" "3024" "0" "c.3024G>A" "r.(?)" "p.(Ala1008=)" "" "0000556925" "00000864" "30" "2995" "4" "2995" "4" "c.2995+4C>T" "r.spl?" "p.?" "" "0000556926" "00000864" "30" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "" "0000556927" "00000864" "10" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "" "0000556928" "00000864" "10" "2835" "0" "2835" "0" "c.2835C>T" "r.(?)" "p.(Pro945=)" "" "0000556929" "00000864" "10" "2781" "0" "2781" "0" "c.2781C>T" "r.(?)" "p.(Tyr927=)" "" "0000556930" "00000864" "30" "2781" "0" "2781" "0" "c.2781C>T" "r.(?)" "p.(Tyr927=)" "" "0000556931" "00000864" "50" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Cys)" "" "0000556932" "00000864" "90" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Arg887Cys)" "" "0000556933" "00000864" "10" "2490" "0" "2490" "0" "c.2490C>T" "r.(?)" "p.(Ala830=)" "" "0000556934" "00000864" "70" "2359" "0" "2359" "0" "c.2359G>A" "r.(?)" "p.(Val787Ile)" "" "0000556935" "00000864" "90" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.(Arg769Lys)" "" "0000556936" "00000864" "10" "2224" "0" "2224" "0" "c.2224A>G" "r.(?)" "p.(Ile742Val)" "" "0000556937" "00000864" "30" "2224" "0" "2224" "0" "c.2224A>G" "r.(?)" "p.(Ile742Val)" "" "0000556938" "00000864" "10" "2175" "0" "2175" "0" "c.2175A>T" "r.(?)" "p.(Val725=)" "" "0000556939" "00000864" "10" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "" "0000556940" "00000864" "30" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "" "0000556941" "00000864" "30" "2140" "0" "2140" "0" "c.2140G>A" "r.(?)" "p.(Gly714Arg)" "" "0000556942" "00000864" "50" "2131" "0" "2131" "0" "c.2131G>A" "r.(?)" "p.(Val711Met)" "" "0000556943" "00000864" "50" "2098" "0" "2098" "0" "c.2098del" "r.(?)" "p.(Ala700ProfsTer9)" "" "0000556944" "00000864" "10" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(Ile689=)" "" "0000556945" "00000864" "10" "1896" "0" "1896" "0" "c.1896C>A" "r.(?)" "p.(His632Gln)" "" "0000556946" "00000864" "10" "1890" "0" "1890" "0" "c.1890C>G" "r.(?)" "p.(Thr630=)" "" "0000556947" "00000864" "10" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Val614Ala)" "" "0000556948" "00000864" "30" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Val592Ile)" "" "0000556949" "00000864" "50" "1591" "0" "1593" "0" "c.1591_1593del" "r.(?)" "p.(Leu531del)" "" "0000556950" "00000864" "30" "1424" "0" "1424" "0" "c.1424A>T" "r.(?)" "p.(His475Leu)" "" "0000556951" "00000864" "10" "1338" "20" "1338" "20" "c.1338+20C>G" "r.(=)" "p.(=)" "" "0000556952" "00000864" "10" "1338" "7" "1338" "7" "c.1338+7C>G" "r.(=)" "p.(=)" "" "0000556953" "00000864" "10" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Asn428=)" "" "0000556954" "00000864" "50" "1283" "0" "1283" "0" "c.1283A>G" "r.(?)" "p.(Asn428Ser)" "" "0000556955" "00000864" "10" "1263" "0" "1263" "0" "c.1263C>T" "r.(?)" "p.(Thr421=)" "" "0000556956" "00000864" "10" "1245" "0" "1245" "0" "c.1245G>A" "r.(?)" "p.(Val415=)" "" "0000556957" "00000864" "30" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Ala405=)" "" "0000556958" "00000864" "30" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "" "0000556959" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378Ter)" "" "0000556960" "00000864" "50" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Asn370Asp)" "" "0000556962" "00000864" "30" "998" "5" "998" "5" "c.998+5G>A" "r.spl?" "p.?" "" "0000556964" "00000864" "30" "794" "20" "794" "20" "c.794+20G>A" "r.(=)" "p.(=)" "" "0000556965" "00000864" "10" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Arg265Gly)" "" "0000556966" "00000864" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Leu248Phe)" "" "0000556967" "00000864" "10" "645" "0" "645" "0" "c.645G>A" "r.(?)" "p.(Thr215=)" "" "0000556969" "00000864" "30" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Cys173Tyr)" "" "0000556970" "00000864" "10" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Asp163Asn)" "" "0000556971" "00000864" "10" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Asp163Asn)" "" "0000556973" "00000864" "10" "346" "-6" "346" "-6" "c.346-6G>A" "r.(=)" "p.(=)" "" "0000556974" "00000864" "30" "346" "-6" "346" "-6" "c.346-6G>A" "r.(=)" "p.(=)" "" "0000556975" "00000864" "10" "345" "26" "345" "26" "c.345+26C>T" "r.(=)" "p.(=)" "" "0000556976" "00000864" "10" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Arg60Gln)" "" "0000556977" "00000864" "90" "123" "0" "123" "0" "c.123dup" "r.(?)" "p.(Met42HisfsTer59)" "" "0000556978" "00000864" "30" "67" "0" "67" "0" "c.67G>T" "r.(?)" "p.(Ala23Ser)" "" "0000556979" "00000864" "30" "-2" "0" "-1" "0" "c.-2_-1insTGCC" "r.(?)" "p.(=)" "" "0000578974" "00000864" "90" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "" "0000615756" "00000864" "10" "4254" "0" "4254" "0" "c.4254G>A" "r.(?)" "p.(Arg1418=)" "" "0000615757" "00000864" "50" "4253" "0" "4253" "0" "c.4253G>A" "r.(?)" "p.(Arg1418Gln)" "" "0000615758" "00000864" "30" "4209" "-15" "4209" "-15" "c.4209-15C>T" "r.(=)" "p.(=)" "" "0000615759" "00000864" "10" "4208" "9" "4208" "9" "c.4208+9G>A" "r.(=)" "p.(=)" "" "0000615760" "00000864" "50" "4104" "0" "4104" "0" "c.4104del" "r.(?)" "p.(Asp1368GlufsTer35)" "" "0000615761" "00000864" "30" "4042" "-6" "4042" "-6" "c.4042-6C>T" "r.(=)" "p.(=)" "" "0000615762" "00000864" "10" "3980" "0" "3980" "0" "c.3980G>A" "r.(?)" "p.(Gly1327Glu)" "" "0000615763" "00000864" "50" "3979" "0" "3979" "0" "c.3979G>A" "r.(?)" "p.(Gly1327Arg)" "" "0000615764" "00000864" "30" "3903" "0" "3903" "0" "c.3903C>T" "r.(?)" "p.(Thr1301=)" "" "0000615765" "00000864" "30" "3885" "0" "3885" "0" "c.3885G>A" "r.(?)" "p.(Val1295=)" "" "0000615766" "00000864" "10" "3803" "0" "3803" "0" "c.3803G>A" "r.(?)" "p.(Arg1268Gln)" "" "0000615767" "00000864" "50" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259GlyfsTer14)" "" "0000615768" "00000864" "30" "3751" "0" "3751" "0" "c.3751C>T" "r.(?)" "p.(Pro1251Ser)" "" "0000615769" "00000864" "10" "3507" "-3" "3507" "-3" "c.3507-3C>T" "r.spl?" "p.?" "" "0000615770" "00000864" "30" "3507" "-3" "3507" "-3" "c.3507-3C>T" "r.spl?" "p.?" "" "0000615771" "00000864" "30" "3453" "0" "3453" "0" "c.3453T>C" "r.(?)" "p.(Asn1151=)" "" "0000615772" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000615773" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000615774" "00000864" "30" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064Trp)" "" "0000615775" "00000864" "10" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064Trp)" "" "0000615776" "00000864" "30" "3170" "0" "3170" "0" "c.3170T>C" "r.(?)" "p.(Val1057Ala)" "" "0000615777" "00000864" "30" "3168" "0" "3168" "0" "c.3168C>T" "r.(?)" "p.(Asp1056=)" "" "0000615778" "00000864" "50" "3063" "0" "3063" "0" "c.3063C>A" "r.(?)" "p.(Phe1021Leu)" "" "0000615779" "00000864" "30" "3024" "0" "3024" "0" "c.3024G>A" "r.(?)" "p.(Ala1008=)" "" "0000615780" "00000864" "30" "2996" "-16" "2996" "-16" "c.2996-16T>A" "r.(=)" "p.(=)" "" "0000615781" "00000864" "30" "2995" "6" "2995" "6" "c.2995+6C>T" "r.(=)" "p.(=)" "" "0000615782" "00000864" "10" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "" "0000615783" "00000864" "30" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "" "0000615784" "00000864" "90" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl?" "p.?" "" "0000615785" "00000864" "30" "2763" "0" "2763" "0" "c.2763A>C" "r.(?)" "p.(Gly921=)" "" "0000615786" "00000864" "10" "2224" "0" "2224" "0" "c.2224A>G" "r.(?)" "p.(Ile742Val)" "" "0000615787" "00000864" "10" "2175" "0" "2175" "0" "c.2175A>T" "r.(?)" "p.(Val725=)" "" "0000615788" "00000864" "10" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "" "0000615789" "00000864" "30" "1843" "0" "1843" "0" "c.1843G>A" "r.(?)" "p.(Val615Ile)" "" "0000615790" "00000864" "50" "1666" "0" "1666" "0" "c.1666C>G" "r.(?)" "p.(Leu556Val)" "" "0000615791" "00000864" "10" "1636" "-10" "1636" "-10" "c.1636-10dup" "r.(=)" "p.(=)" "" "0000615792" "00000864" "50" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "" "0000615793" "00000864" "30" "1494" "0" "1494" "0" "c.1494G>A" "r.(?)" "p.(Ser498=)" "" "0000615794" "00000864" "30" "1339" "-16" "1339" "-16" "c.1339-16C>T" "r.(=)" "p.(=)" "" "0000615795" "00000864" "30" "1339" "-17" "1339" "-17" "c.1339-17G>T" "r.(=)" "p.(=)" "" "0000615796" "00000864" "10" "1338" "20" "1338" "20" "c.1338+20C>G" "r.(=)" "p.(=)" "" "0000615797" "00000864" "30" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Arg265Gly)" "" "0000615798" "00000864" "30" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Asn259=)" "" "0000615800" "00000864" "30" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(Ser162=)" "" "0000615801" "00000864" "30" "346" "-6" "346" "-6" "c.346-6G>A" "r.(=)" "p.(=)" "" "0000623384" "00000864" "50" "4477" "0" "4477" "0" "c.4477T>C" "r.(?)" "p.(Phe1493Leu)" "" "0000623385" "00000864" "50" "4105" "0" "4105" "0" "c.4105G>A" "r.(?)" "p.(Glu1369Lys)" "" "0000623386" "00000864" "30" "4104" "0" "4104" "0" "c.4104C>T" "r.(?)" "p.(Asp1368=)" "" "0000623387" "00000864" "70" "3979" "0" "3979" "0" "c.3979G>A" "r.(?)" "p.(Gly1327Arg)" "" "0000623388" "00000864" "30" "3903" "0" "3903" "0" "c.3903C>T" "r.(?)" "p.(Thr1301=)" "" "0000649244" "00000864" "50" "3739" "0" "3739" "0" "c.3739C>A" "r.(?)" "p.(Pro1247Thr)" "" "0000649246" "00000864" "10" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064Trp)" "" "0000649247" "00000864" "10" "2490" "0" "2490" "0" "c.2490C>T" "r.(=)" "p.(=)" "" "0000649248" "00000864" "90" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Trp)" "" "0000649249" "00000864" "10" "2224" "0" "2224" "0" "c.2224A>G" "r.(?)" "p.(Ile742Val)" "" "0000649250" "00000864" "10" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "" "0000649251" "00000864" "50" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "" "0000653317" "00000864" "90" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Arg765Gln)" "" "0000653561" "00000864" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518*)" "" "0000657752" "00000864" "90" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl?" "p.?" "" "0000657753" "00000864" "50" "2432" "0" "2432" "0" "c.2432C>T" "r.(?)" "p.(Thr811Met)" "" "0000657754" "00000864" "90" "1517" "0" "1517" "0" "c.1517G>A" "r.(?)" "p.(Trp506Ter)" "" "0000657755" "00000864" "30" "1432" "-20" "1432" "-20" "c.1432-20C>T" "r.(=)" "p.(=)" "" "0000657756" "00000864" "30" "1242" "0" "1242" "0" "c.1242C>T" "r.(?)" "p.(Ser414=)" "" "0000663577" "00000864" "50" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "" "0000663578" "00000864" "30" "3507" "-3" "3507" "-3" "c.3507-3C>T" "r.(?)" "p.(=)" "" "0000663628" "00000864" "50" "3507" "-3" "3507" "-3" "c.3507-3C>T" "r.spl?" "p.?" "" "0000663629" "00000864" "50" "2836" "0" "2836" "0" "c.2836C>A" "r.(?)" "p.(Leu946Ile)" "" "0000663709" "00000864" "70" "3340" "0" "3340" "0" "c.3340C>T" "r.(?)" "p.(Arg1114Cys)" "" "0000664517" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "" "0000669316" "00000864" "50" "3507" "-3" "3507" "-3" "c.3507-3C>T" "r.spl?" "p.?" "" "0000669317" "00000864" "10" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064Trp)" "" "0000669318" "00000864" "10" "2490" "0" "2490" "0" "c.2490C>T" "r.(=)" "p.(=)" "" "0000669319" "00000864" "10" "2224" "0" "2224" "0" "c.2224A>G" "r.(?)" "p.(Ile742Val)" "" "0000669320" "00000864" "10" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "" "0000680416" "00000864" "50" "3880" "0" "3882" "0" "c.3880_3882del" "r.(?)" "p.(Lys1294del)" "" "0000680417" "00000864" "90" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "" "0000680418" "00000864" "50" "3188" "0" "3188" "0" "c.3188T>G" "r.(?)" "p.(Leu1063Arg)" "" "0000680419" "00000864" "30" "2995" "4" "2995" "4" "c.2995+4C>G" "r.spl?" "p.?" "" "0000680420" "00000864" "50" "2800" "0" "2800" "0" "c.2800G>C" "r.(?)" "p.(Val934Leu)" "" "0000680421" "00000864" "50" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Val696Met)" "" "0000680422" "00000864" "30" "1353" "0" "1353" "0" "c.1353C>T" "r.(?)" "p.(Ser451=)" "" "0000680425" "00000864" "30" "302" "0" "302" "0" "c.302C>G" "r.(?)" "p.(Ala101Gly)" "" "0000680426" "00000864" "50" "194" "0" "194" "0" "c.194T>A" "r.(?)" "p.(Met65Lys)" "" "0000680427" "00000864" "30" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Leu32=)" "" "0000684978" "00000864" "70" "4424" "0" "4424" "0" "c.4424G>A" "r.(?)" "p.(Gly1475Glu)" "" "0000684979" "00000864" "70" "3883" "-6" "3883" "-6" "c.3883-6G>A" "r.spl" "p.?" "" "0000684980" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "" "0000684981" "00000864" "70" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064Trp)" "" "0000684982" "00000864" "90" "1413" "0" "1413" "0" "c.1413del" "r.(?)" "p.(Arg473Glyfs*9)" "" "0000691954" "00000864" "70" "883" "0" "883" "0" "c.883del" "r.(?)" "p.(Gln295SerfsTer6)" "" "0000713445" "00000864" "90" "4103" "0" "4104" "0" "c.4103_4104del" "r.(?)" "p.(Asp1368Glyfs*29)" "" "0000713777" "00000864" "90" "3389" "0" "3389" "0" "c.3389C>T" "r.(?)" "p.(Thr1130Met)" "" "0000725482" "00000864" "90" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259GlyfsTer14)" "" "0000725484" "00000864" "50" "1283" "0" "1283" "0" "c.1283A>G" "r.(?)" "p.(Asn428Ser)" "" "0000725485" "00000864" "30" "1263" "0" "1263" "0" "c.1263C>T" "r.(?)" "p.(Thr421=)" "" "0000725486" "00000864" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Gly277Ser)" "" "0000725487" "00000864" "30" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Arg60Gln)" "" "0000730343" "00000864" "90" "1483" "0" "1485" "0" "c.1483_1485del" "r.(?)" "p.(Leu495del)" "" "0000733508" "00000864" "70" "2995" "1689" "4209" "-882" "c.2995+1689_4209-882del" "r.?" "p.?" "" "0000733509" "00000864" "70" "2784" "0" "2787" "0" "c.2784_2787del" "r.(?)" "p.(Arg929*)" "" "0000733881" "00000864" "70" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "" "0000788071" "00000864" "50" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "9" "0000788369" "00000864" "50" "2849" "0" "2849" "0" "c.2849C>T" "r.(?)" "p.(Ala950Val)" "22" "0000788457" "00000864" "50" "4069" "0" "4069" "0" "c.4069C>T" "r.(?)" "p.(Arg1357Trp)" "29" "0000788507" "00000864" "50" "1283" "0" "1283" "0" "c.1283A>G" "r.(?)" "p.(Asn428Ser)" "10" "0000794716" "00000864" "70" "2787" "1" "2787" "1" "c.2787+1G>T" "r.(?)" "p.(?)" "" "0000794717" "00000864" "70" "2787" "1" "2787" "1" "c.2787+1G>T" "r.(?)" "p.(?)" "" "0000797009" "00000864" "50" "3001" "0" "3001" "0" "c.3001G>A" "r.(?)" "p.(Gly1001Arg)" "1" "0000807100" "00000864" "90" "4182" "0" "4182" "0" "c.4182del" "r.(?)" "p.(Lys1394AsnfsTer9)" "" "0000807101" "00000864" "70" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Arg1314Trp)" "" "0000807102" "00000864" "10" "3883" "-24" "3883" "-24" "c.3883-24G>A" "r.(=)" "p.(=)" "" "0000807103" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000807104" "00000864" "10" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064Trp)" "" "0000807105" "00000864" "90" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl?" "p.?" "" "0000807106" "00000864" "50" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Arg887Cys)" "" "0000807107" "00000864" "50" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Arg887Cys)" "" "0000807108" "00000864" "50" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.(Arg769Lys)" "" "0000807110" "00000864" "50" "1774" "0" "1774" "0" "c.1774G>C" "r.(?)" "p.(Val592Leu)" "" "0000807111" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "" "0000807112" "00000864" "30" "998" "13" "998" "13" "c.998+13C>T" "r.(=)" "p.(=)" "" "0000807113" "00000864" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Leu248Phe)" "" "0000807114" "00000864" "10" "663" "-3" "663" "-3" "c.663-3C>T" "r.spl?" "p.?" "" "0000807115" "00000864" "30" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Ala78Thr)" "" "0000816167" "00000864" "50" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489Trp)" "" "0000821146" "00000864" "70" "3389" "0" "3389" "0" "c.3389C>T" "r.(?)" "p.(Thr1130Met)" "" "0000821147" "00000864" "70" "3907" "0" "3907" "0" "c.3907G>C" "r.(?)" "p.(Ala1303Pro)" "" "0000821520" "00000864" "90" "4104" "0" "4104" "0" "c.4104del" "r.(?)" "p.(Asp1368Glufs*35)" "" "0000822070" "00000864" "70" "3188" "0" "3188" "0" "c.3188T>G" "r.(?)" "p.(Leu1063Arg)" "1" "0000822071" "00000864" "70" "1077" "0" "1077" "0" "c.1077A>G" "r.(?)" "p.(=)" "1" "0000822072" "00000864" "70" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "1" "0000822073" "00000864" "70" "1141" "0" "1141" "0" "c.1141T>C" "r.(?)" "p.(=)" "1" "0000822074" "00000864" "70" "13387" "0" "13387" "0" "c.13387C>G" "r.(?)" "p.?" "1i" "0000822075" "00000864" "70" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Leu176Pro)" "1" "0000822076" "00000864" "70" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Glu125Lys)" "1" "0000822077" "00000864" "70" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Ala158Val)" "1" "0000822078" "00000864" "70" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Val614Ala)" "1" "0000822079" "00000864" "70" "3803" "0" "3803" "0" "c.3803G>A" "r.(=)" "p.(=)" "1" "0000822080" "00000864" "70" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "1" "0000822081" "00000864" "70" "2071" "-1" "2071" "-1" "c.2071-1G>A" "r.spl?" "p.?" "1" "0000822082" "00000864" "70" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Ala78Thr)" "1" "0000822083" "00000864" "70" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518*)" "1" "0000827010" "00000864" "90" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "" "0000827611" "00000864" "70" "3703" "0" "3703" "0" "c.3703C>T" "r.(?)" "p.(Arg1235Trp)" "" "0000827616" "00000864" "50" "3698" "0" "3698" "0" "c.3698T>C" "r.(?)" "p.(Val1233Ala)" "" "0000847695" "00000864" "90" "3364" "0" "3364" "0" "c.3364del" "r.(?)" "p.(Ser1122LeufsTer33)" "" "0000847696" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847697" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847698" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847699" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847700" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847701" "00000864" "90" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Trp)" "" "0000847702" "00000864" "90" "2996" "-1" "4208" "1" "c.(2995+1_2996-1)_(4208+1_4209-1)del" "r.?" "p.?" "" "0000847703" "00000864" "90" "4060" "0" "4060" "0" "c.4060G>C" "r.(?)" "p.(Gly1354Arg)" "" "0000847704" "00000864" "90" "4060" "0" "4060" "0" "c.4060G>C" "r.(?)" "p.(Gly1354Arg)" "" "0000847705" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847706" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847707" "00000864" "90" "4104" "0" "4104" "0" "c.4104del" "r.(?)" "p.(Asp1368GlufsTer35)" "" "0000847708" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847709" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847710" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847711" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847712" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847713" "00000864" "90" "3188" "0" "3188" "0" "c.3188T>G" "r.(?)" "p.(Leu1063Arg)" "" "0000847714" "00000864" "90" "3907" "0" "3907" "0" "c.3907G>C" "r.(?)" "p.(Ala1303Pro)" "" "0000847715" "00000864" "90" "2996" "-1" "4208" "1" "c.(2995+1_2996-1)_(4208+1_4209-1)del" "r.?" "p.?" "" "0000847716" "00000864" "90" "3907" "0" "3907" "0" "c.3907G>C" "r.(?)" "p.(Ala1303Pro)" "" "0000847717" "00000864" "90" "1868" "-5" "1868" "-5" "c.1868-5T>G" "r.spl?" "p.?" "" "0000847718" "00000864" "90" "2996" "-1" "4208" "1" "c.(2995+1_2996-1)_(4208+1_4209-1)del" "r.?" "p.?" "" "0000847719" "00000864" "90" "1996" "0" "1996" "0" "c.1996G>T" "r.(?)" "p.(Gly666Trp)" "" "0000847720" "00000864" "90" "1996" "0" "1996" "0" "c.1996G>T" "r.(?)" "p.(Gly666Trp)" "" "0000847721" "00000864" "90" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259GlyfsTer14)" "" "0000847722" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847723" "00000864" "90" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "" "0000847724" "00000864" "90" "2420" "0" "2420" "0" "c.2420G>A" "r.(?)" "p.(Arg807Gln)" "" "0000847725" "00000864" "90" "3887" "0" "3887" "0" "c.3887G>A" "r.(?)" "p.(Gly1296Asp)" "" "0000847726" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847727" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847728" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847729" "00000864" "90" "3907" "0" "3907" "0" "c.3907G>C" "r.(?)" "p.(Ala1303Pro)" "" "0000847730" "00000864" "90" "3907" "0" "3907" "0" "c.3907G>C" "r.(?)" "p.(Ala1303Pro)" "" "0000847731" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847732" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847733" "00000864" "90" "3364" "0" "3364" "0" "c.3364del" "r.(?)" "p.(Ser1122LeufsTer33)" "" "0000847734" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847735" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847736" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847737" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847738" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847739" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847740" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847741" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000847742" "00000864" "90" "2252" "0" "2252" "0" "c.2252T>A" "r.(?)" "p.(Met751Lys)" "" "0000847743" "00000864" "90" "3907" "0" "3907" "0" "c.3907G>C" "r.(?)" "p.(Ala1303Pro)" "" "0000847744" "00000864" "90" "2252" "0" "2252" "0" "c.2252T>A" "r.(?)" "p.(Met751Lys)" "" "0000847745" "00000864" "90" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "" "0000847746" "00000864" "90" "3907" "0" "3907" "0" "c.3907G>C" "r.(?)" "p.(Ala1303Pro)" "" "0000847747" "00000864" "90" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl" "p.?" "" "0000847748" "00000864" "90" "3709" "0" "3709" "0" "c.3709C>T" "r.(?)" "p.(Gln1237Ter)" "" "0000847749" "00000864" "90" "3506" "2" "3506" "2" "c.3506+2T>C" "r.spl?" "p.?" "" "0000847750" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0000854298" "00000864" "50" "3949" "0" "3949" "0" "c.3949G>C" "r.(?)" "p.(Glu1317Gln)" "" "0000854299" "00000864" "90" "3775" "0" "3775" "0" "c.3775del" "r.(?)" "p.(Trp1259GlyfsTer14)" "" "0000854300" "00000864" "90" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Arg765Gln)" "" "0000854302" "00000864" "50" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Ser618Asn)" "" "0000864331" "00000864" "30" "4193" "0" "4193" "0" "c.4193G>A" "r.(?)" "p.(Arg1398Gln)" "" "0000864332" "00000864" "90" "2787" "1" "2787" "1" "c.2787+1G>T" "r.spl?" "p.?" "" "0000864334" "00000864" "50" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Val592Ile)" "" "0000864335" "00000864" "50" "1639" "0" "1639" "0" "c.1639G>A" "r.(?)" "p.(Ala547Thr)" "" "0000864336" "00000864" "50" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Val514Ile)" "" "0000892576" "00000864" "70" "4081" "0" "4081" "0" "c.4081G>A" "r.(?)" "p.(Asp1361Asn)" "" "0000892577" "00000864" "90" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Arg1221Cys)" "" "0000892578" "00000864" "30" "3564" "0" "3564" "0" "c.3564G>A" "r.(?)" "p.(Thr1188=)" "" "0000892579" "00000864" "30" "3363" "0" "3363" "0" "c.3363G>A" "r.(?)" "p.(Ser1121=)" "" "0000892581" "00000864" "30" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "" "0000892582" "00000864" "50" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Asn370Asp)" "" "0000892584" "00000864" "90" "196" "0" "196" "0" "c.196dup" "r.(?)" "p.(Ser66Phefs*35)" "" "0000905911" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141*)" "" "0000914484" "00000864" "10" "2835" "0" "2835" "0" "c.2835C>T" "r.(?)" "p.(Pro945=)" "" "0000914486" "00000864" "10" "1896" "0" "1896" "0" "c.1896C>A" "r.(?)" "p.(His632Gln)" "" "0000914487" "00000864" "10" "1890" "0" "1890" "0" "c.1890C>G" "r.(?)" "p.(Thr630=)" "" "0000914488" "00000864" "10" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Val614Ala)" "" "0000914489" "00000864" "50" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Val442Ile)" "" "0000914490" "00000864" "10" "1245" "0" "1245" "0" "c.1245G>A" "r.(?)" "p.(Val415=)" "" "0000914491" "00000864" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Met42Cysfs*39)" "" "0000921591" "00000864" "30" "3803" "0" "3803" "0" "c.3803G>A" "r.(?)" "p.(Arg1268Gln)" "" "0000926151" "00000864" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Met42Cysfs*39)" "" "0000950527" "00000864" "50" "2921" "0" "2921" "0" "c.2921A>G" "r.(?)" "p.(Asp974Gly)" "" "0000950528" "00000864" "70" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Trp)" "" "0000950529" "00000864" "30" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "" "0000957753" "00000864" "70" "3941" "0" "3941" "0" "c.3941G>A" "r.(?)" "p.(Arg1314Gln)" "" "0000957754" "00000864" "70" "4403" "0" "4403" "0" "c.4403G>A" "r.(?)" "p.(Arg1468Gln)" "" "0000958233" "00000864" "70" "2996" "-1724" "4209" "-479" "c.2996-1724_4209-479del" "r.?" "p.?" "" "0000958576" "00000864" "90" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Trp)" "" "0000958590" "00000864" "50" "1501" "0" "1501" "0" "c.1501A>T" "r.(?)" "p.(Ile501Phe)" "" "0000959022" "00000864" "90" "3389" "0" "3389" "0" "c.3389C>T" "r.(?)" "p.(Thr1130Met)" "" "0000959068" "00000864" "50" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Glu286Lys)" "" "0000959205" "00000864" "90" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Arg765Gln)" "" "0000959290" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378Ter)" "" "0000959293" "00000864" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378Ter)" "" "0000968123" "00000864" "30" "4425" "0" "4425" "0" "c.4425G>A" "r.(?)" "p.(=)" "" "0000968124" "00000864" "50" "4375" "0" "4375" "0" "c.4375C>T" "r.(?)" "p.(Arg1459Cys)" "" "0000968129" "00000864" "50" "1737" "0" "1737" "0" "c.1737G>T" "r.(?)" "p.(Lys579Asn)" "" "0000981650" "00000864" "30" "4254" "0" "4254" "0" "c.4254G>A" "r.(?)" "p.(Arg1418=)" "" "0000981651" "00000864" "70" "3415" "0" "3415" "0" "c.3415G>A" "r.(?)" "p.(Ala1139Thr)" "" "0000981652" "00000864" "50" "2342" "0" "2342" "0" "c.2342C>T" "r.(?)" "p.(Ala781Val)" "" "0000981653" "00000864" "30" "2319" "0" "2319" "0" "c.2319G>A" "r.(?)" "p.(=)" "" "0000981654" "00000864" "90" "2018" "0" "2018" "0" "c.2018T>C" "r.(?)" "p.(Leu673Pro)" "" "0000981655" "00000864" "90" "1892" "0" "1943" "26" "c.1892_1943+26del" "r.(?)" "p.(Ala623_Val1503delinsGlu)" "" "0000981656" "00000864" "50" "730" "0" "730" "0" "c.730T>G" "r.(?)" "p.(Ser244Ala)" "" "0000981657" "00000864" "50" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.(Arg166Leu)" "" "0000981658" "00000864" "30" "219" "78" "219" "78" "c.219+78T>C" "r.(=)" "p.(=)" "" "0000984930" "00000864" "90" "601" "-2" "601" "-2" "c.601-2A>G" "r.(?)" "p.(?)" "" "0000989439" "00000864" "90" "4104" "0" "4104" "0" "c.4104del" "r.(?)" "p.(Asp1368GlufsTer35)" "" "0001001946" "00000864" "50" "4153" "0" "4153" "0" "c.4153G>C" "r.(?)" "p.(Ala1385Pro)" "" "0001001947" "00000864" "50" "4058" "0" "4058" "0" "c.4058C>T" "r.(?)" "p.(Pro1353Leu)" "" "0001001948" "00000864" "50" "3979" "0" "3979" "0" "c.3979G>A" "r.(?)" "p.(Gly1327Arg)" "" "0001001949" "00000864" "30" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Val1285Met)" "" "0001001950" "00000864" "50" "3628" "0" "3628" "0" "c.3628C>G" "r.(?)" "p.(Leu1210Val)" "" "0001001951" "00000864" "90" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Arg1164Gln)" "" "0001001952" "00000864" "50" "3381" "0" "3381" "0" "c.3381G>A" "r.(?)" "p.(Met1127Ile)" "" "0001001953" "00000864" "90" "3088" "0" "3088" "0" "c.3088C>T" "r.(?)" "p.(Arg1030*)" "" "0001001954" "00000864" "50" "3016" "0" "3016" "0" "c.3016A>T" "r.(?)" "p.(Met1006Leu)" "" "0001001955" "00000864" "30" "2781" "0" "2781" "0" "c.2781C>T" "r.(?)" "p.(Tyr927=)" "" "0001001956" "00000864" "50" "2512" "0" "2512" "0" "c.2512C>G" "r.(?)" "p.(Gln838Glu)" "" "0001001957" "00000864" "50" "2359" "0" "2359" "0" "c.2359G>A" "r.(?)" "p.(Val787Ile)" "" "0001001958" "00000864" "70" "2248" "-2" "2248" "-1" "c.2248-2_2248-1del" "r.spl?" "p.?" "" "0001001959" "00000864" "50" "2237" "0" "2237" "0" "c.2237T>C" "r.(?)" "p.(Ile746Thr)" "" "0001001960" "00000864" "90" "1703" "0" "1703" "0" "c.1703T>C" "r.(?)" "p.(Phe568Ser)" "" "0001001961" "00000864" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "" "0001001962" "00000864" "30" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Ser461Asn)" "" "0001001963" "00000864" "30" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Ala452Thr)" "" "0001001964" "00000864" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Asn428=)" "" "0001001965" "00000864" "50" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Asn370Asp)" "" "0001001966" "00000864" "50" "1108" "0" "1108" "0" "c.1108A>G" "r.(?)" "p.(Asn370Asp)" "" "0001001967" "00000864" "10" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Arg265Gly)" "" "0001001968" "00000864" "30" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Pro194Ser)" "" "0001001969" "00000864" "30" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Ala158Val)" "" "0001001970" "00000864" "50" "346" "0" "346" "0" "c.346A>G" "r.(?)" "p.(Ser116Gly)" "" "0001001971" "00000864" "50" "197" "0" "197" "0" "c.197C>T" "r.(?)" "p.(Ser66Phe)" "" "0001001972" "00000864" "50" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Arg64Gln)" "" "0001015306" "00000864" "50" "4105" "0" "4105" "0" "c.4105G>A" "r.(?)" "p.(Glu1369Lys)" "" "0001026578" "00000864" "30" "3422" "0" "3422" "0" "c.3422G>A" "r.(?)" "p.(Arg1141Gln)" "" "0001040830" "00000864" "50" "4403" "0" "4403" "0" "c.4403G>A" "r.(?)" "p.(Arg1468Gln)" "" "0001040831" "00000864" "50" "3691" "0" "3691" "0" "c.3691G>A" "r.(?)" "p.(Val1231Met)" "" "0001040832" "00000864" "90" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221His)" "" "0001040833" "00000864" "50" "3604" "0" "3604" "0" "c.3604G>A" "r.(?)" "p.(Val1202Met)" "" "0001040834" "00000864" "90" "2432" "0" "2432" "0" "c.2432C>T" "r.(?)" "p.(Thr811Met)" "" "0001040835" "00000864" "50" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Glu716Lys)" "" "0001040836" "00000864" "50" "2125" "0" "2125" "0" "c.2125G>A" "r.(?)" "p.(Glu709Lys)" "" "0001040837" "00000864" "50" "2049" "0" "2049" "0" "c.2049G>A" "r.(?)" "p.(=)" "" "0001040838" "00000864" "50" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Pro664Ser)" "" "0001040839" "00000864" "50" "1424" "0" "1424" "0" "c.1424A>T" "r.(?)" "p.(His475Leu)" "" "0001040840" "00000864" "30" "841" "0" "841" "0" "c.841A>G" "r.(?)" "p.(Lys281Glu)" "" "0001040841" "00000864" "50" "663" "-3" "663" "-3" "c.663-3C>T" "r.spl?" "p.?" "" "0001046535" "00000864" "90" "739" "0" "739" "0" "c.739G>T" "r.(?)" "p.(Glu247*)" "" "0001055456" "00000864" "50" "3920" "0" "3920" "0" "c.3920C>T" "r.(?)" "p.(Ser1307Phe)" "" "0001055457" "00000864" "50" "3819" "0" "3819" "0" "c.3819A>C" "r.(?)" "p.(Arg1273Ser)" "" "0001055458" "00000864" "10" "3803" "0" "3803" "0" "c.3803G>A" "r.(?)" "p.(Arg1268Gln)" "" "0001055459" "00000864" "90" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Arg1221Cys)" "" "0001055460" "00000864" "50" "3044" "0" "3044" "0" "c.3044G>A" "r.(?)" "p.(Arg1015Gln)" "" "0001055461" "00000864" "30" "1424" "0" "1424" "0" "c.1424A>T" "r.(?)" "p.(His475Leu)" "" "0001055462" "00000864" "30" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Ala78Thr)" "" "0001055463" "00000864" "30" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(=)" "" "0001060873" "00000864" "50" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Arg391Gly)" "" "0001066427" "00000864" "50" "3955" "0" "3955" "0" "c.3955G>A" "r.(?)" "p.(Ala1319Thr)" "" "0001066428" "00000864" "50" "3488" "0" "3488" "0" "c.3488C>T" "r.(?)" "p.(Pro1163Leu)" "" "0001066429" "00000864" "90" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Ter)" "" "0001066430" "00000864" "50" "2335" "0" "2335" "0" "c.2335C>A" "r.(?)" "p.(Pro779Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1141 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013531" "0000000210" "0000013532" "0000050455" "0000079435" "0000050491" "0000079471" "0000079255" "0000578974" "0000088400" "0000146073" "0000088401" "0000146074" "0000088402" "0000146075" "0000088402" "0000146681" "0000088403" "0000146076" "0000088403" "0000146682" "0000088404" "0000146077" "0000088404" "0000146683" "0000088405" "0000146078" "0000088405" "0000146684" "0000088406" "0000146079" "0000088406" "0000146685" "0000088407" "0000146080" "0000088407" "0000146686" "0000088408" "0000146081" "0000088409" "0000146082" "0000088409" "0000146687" "0000088410" "0000146083" "0000088411" "0000146084" "0000088412" "0000146085" "0000088413" "0000146086" "0000088414" "0000146087" "0000088415" "0000146088" "0000088415" "0000146688" "0000088416" "0000146089" "0000088417" "0000146090" "0000088417" "0000146689" "0000088418" "0000146091" "0000088419" "0000146092" "0000088420" "0000146093" "0000088420" "0000146690" "0000088421" "0000146094" "0000088422" "0000146095" "0000088422" "0000146691" "0000088423" "0000146096" "0000088423" "0000146692" "0000088424" "0000146097" "0000088424" "0000146693" "0000088425" "0000146098" "0000088425" "0000146694" "0000088426" "0000146099" "0000088426" "0000146695" "0000088427" "0000146100" "0000088428" "0000146101" "0000088429" "0000146102" "0000088429" "0000146696" "0000088430" "0000146103" "0000088431" "0000146104" "0000088432" "0000146105" "0000088433" "0000146106" "0000088434" "0000146107" "0000088434" "0000146697" "0000088435" "0000146108" "0000088436" "0000146109" "0000088436" "0000146698" "0000088437" "0000146110" "0000088437" "0000146699" "0000088438" "0000146111" "0000088439" "0000146112" "0000088439" "0000146700" "0000088440" "0000146113" "0000088440" "0000146701" "0000088441" "0000146114" "0000088441" "0000146702" "0000088442" "0000146115" "0000088442" "0000146703" "0000088443" "0000146116" "0000088443" "0000146704" "0000088444" "0000146117" "0000088445" "0000146118" "0000088445" "0000146705" "0000088446" "0000146119" "0000088446" "0000146706" "0000088447" "0000146120" "0000088447" "0000146707" "0000088448" "0000146121" "0000088448" "0000146708" "0000088449" "0000146122" "0000088449" "0000146709" "0000088450" "0000146123" "0000088450" "0000146710" "0000088451" "0000146124" "0000088451" "0000146711" "0000088452" "0000146125" "0000088452" "0000146712" "0000088453" "0000146126" "0000088454" "0000146127" "0000088455" "0000146128" "0000088456" "0000146129" "0000088456" "0000146713" "0000088457" "0000146130" "0000088458" "0000146131" "0000088459" "0000146132" "0000088460" "0000146133" "0000088460" "0000146714" "0000088461" "0000146134" "0000088462" "0000146135" "0000088463" "0000146136" "0000088464" "0000146137" "0000088464" "0000146715" "0000088465" "0000146138" "0000088465" "0000146716" "0000088466" "0000146139" "0000088466" "0000146717" "0000088467" "0000146140" "0000088467" "0000146718" "0000088468" "0000146141" "0000088468" "0000146719" "0000088469" "0000146142" "0000088469" "0000146720" "0000088470" "0000146143" "0000088471" "0000146144" "0000088471" "0000146721" "0000088472" "0000146145" "0000088473" "0000146146" "0000088474" "0000146147" "0000088475" "0000146148" "0000088476" "0000146149" "0000088476" "0000146722" "0000088477" "0000146150" "0000088477" "0000146723" "0000088478" "0000146151" "0000088478" "0000146724" "0000088479" "0000146152" "0000088479" "0000146725" "0000088480" "0000146153" "0000088480" "0000146726" "0000088481" "0000146154" "0000088481" "0000146727" "0000088482" "0000146155" "0000088482" "0000146728" "0000088483" "0000146156" "0000088484" "0000146157" "0000088485" "0000146158" "0000088485" "0000146729" "0000088486" "0000146159" "0000088486" "0000146730" "0000088487" "0000146160" "0000088487" "0000146731" "0000088488" "0000146161" "0000088488" "0000146732" "0000088489" "0000146162" "0000088489" "0000146733" "0000088490" "0000146163" "0000088491" "0000146164" "0000088492" "0000146165" "0000088492" "0000146734" "0000088493" "0000146166" "0000088493" "0000146735" "0000088494" "0000146167" "0000088494" "0000146736" "0000088495" "0000146168" "0000088495" "0000146737" "0000088496" "0000146169" "0000088497" "0000146170" "0000088498" "0000146171" "0000088498" "0000146738" "0000088499" "0000146172" "0000088500" "0000146173" "0000088500" "0000146739" "0000088501" "0000146174" "0000088501" "0000146740" "0000088502" "0000146175" "0000088503" "0000146176" "0000088504" "0000146177" "0000088505" "0000146178" "0000088506" "0000146179" "0000088506" "0000146741" "0000088507" "0000146180" "0000088508" "0000146181" "0000088509" "0000146182" "0000088509" "0000146742" "0000088510" "0000146183" "0000088510" "0000146743" "0000088511" "0000146184" "0000088511" "0000146744" "0000088512" "0000146185" "0000088512" "0000146745" "0000088513" "0000146186" "0000088513" "0000146746" "0000088514" "0000146187" "0000088514" "0000146747" "0000088515" "0000146188" "0000088515" "0000146748" "0000088516" "0000146189" "0000088517" "0000146190" "0000088518" "0000146191" "0000088519" "0000146192" "0000088520" "0000146193" "0000088521" "0000146194" "0000088521" "0000146749" "0000088522" "0000146195" "0000088522" "0000146750" "0000088523" "0000146196" "0000088524" "0000146197" "0000088524" "0000146751" "0000088525" "0000146198" "0000088525" "0000146752" "0000088526" "0000146199" "0000088527" "0000146200" "0000088527" "0000146753" "0000088528" "0000146201" "0000088528" "0000146754" "0000088529" "0000146202" "0000088529" "0000146755" "0000088530" "0000146203" "0000088530" "0000146756" "0000088531" "0000146204" "0000088532" "0000146205" "0000088532" "0000146757" "0000088533" "0000146206" "0000088534" "0000146207" "0000088535" "0000146208" "0000088535" "0000146758" "0000088536" "0000146209" "0000088536" "0000146759" "0000088537" "0000146210" "0000088538" "0000146211" "0000088539" "0000146212" "0000088540" "0000146213" "0000088541" "0000146214" "0000088542" "0000146215" "0000088542" "0000146760" "0000088543" "0000146216" "0000088543" "0000146761" "0000088544" "0000146217" "0000088545" "0000146218" "0000088545" "0000146762" "0000088546" "0000146219" "0000088546" "0000146763" "0000088547" "0000146220" "0000088548" "0000146221" "0000088548" "0000146764" "0000088549" "0000146222" "0000088550" "0000146223" "0000088550" "0000146765" "0000088551" "0000146224" "0000088551" "0000146766" "0000088552" "0000146225" "0000088553" "0000146226" "0000088554" "0000146227" "0000088554" "0000146767" "0000088555" "0000146228" "0000088556" "0000146229" "0000088557" "0000146230" "0000088557" "0000146768" "0000088558" "0000146231" "0000088558" "0000146769" "0000088559" "0000146232" "0000088559" "0000146770" "0000088560" "0000146233" "0000088560" "0000146771" "0000088560" "0000146772" "0000088561" "0000146234" "0000088561" "0000146773" "0000088562" "0000146235" "0000088562" "0000146774" "0000088563" "0000146236" "0000088564" "0000146237" "0000088565" "0000146238" "0000088565" "0000146775" "0000088566" "0000146239" "0000088567" "0000146240" "0000088568" "0000146241" "0000088568" "0000146776" "0000088569" "0000146242" "0000088569" "0000146777" "0000088570" "0000146243" "0000088571" "0000146244" "0000088572" "0000146245" "0000088572" "0000146778" "0000088573" "0000146246" "0000088574" "0000146247" "0000088574" "0000146779" "0000088575" "0000146248" "0000088576" "0000146249" "0000088576" "0000146780" "0000088577" "0000146250" "0000088578" "0000146251" "0000088579" "0000146252" "0000088580" "0000146253" "0000088580" "0000146781" "0000088581" "0000146254" "0000088581" "0000146782" "0000088582" "0000146255" "0000088582" "0000146783" "0000088583" "0000146256" "0000088584" "0000146257" "0000088585" "0000146258" "0000088585" "0000146784" "0000088586" "0000146259" "0000088586" "0000146785" "0000088587" "0000146260" "0000088588" "0000146261" "0000088589" "0000146262" "0000088590" "0000146263" "0000088590" "0000146786" "0000088591" "0000146264" "0000088591" "0000146787" "0000088592" "0000146265" "0000088593" "0000146266" "0000088593" "0000146788" "0000088594" "0000146267" "0000088594" "0000146789" "0000088595" "0000146268" "0000088595" "0000146790" "0000088596" "0000146269" "0000088597" "0000146270" "0000088597" "0000146791" "0000088598" "0000146271" "0000088598" "0000146792" "0000088599" "0000146272" "0000088600" "0000146273" "0000088600" "0000146793" "0000088601" "0000146274" "0000088601" "0000146794" "0000088602" "0000146275" "0000088602" "0000146795" "0000088603" "0000146276" "0000088603" "0000146796" "0000088604" "0000146277" "0000088605" "0000146278" "0000088606" "0000146279" "0000088607" "0000146280" "0000088608" "0000146281" "0000088609" "0000146282" "0000088609" "0000146797" "0000088610" "0000146283" "0000088610" "0000146798" "0000088611" "0000146284" "0000088611" "0000146799" "0000088612" "0000146285" "0000088613" "0000146286" "0000088614" "0000146287" "0000088614" "0000146800" "0000088615" "0000146288" "0000088615" "0000146801" "0000088616" "0000146289" "0000088616" "0000146802" "0000088617" "0000146290" "0000088617" "0000146803" "0000088618" "0000146291" "0000088618" "0000146804" "0000088619" "0000146292" "0000088619" "0000146805" "0000088620" "0000146293" "0000088621" "0000146294" "0000088622" "0000146295" "0000088623" "0000146296" "0000088624" "0000146297" "0000088625" "0000146298" "0000088626" "0000146299" "0000088627" "0000146300" "0000088628" "0000146301" "0000088629" "0000146302" "0000088630" "0000146303" "0000088631" "0000146304" "0000088632" "0000146305" "0000088633" "0000146306" "0000088634" "0000146307" "0000088635" "0000146308" "0000088636" "0000146309" "0000088637" "0000146310" "0000088638" "0000146311" "0000088639" "0000146312" "0000088640" "0000146313" "0000088641" "0000146314" "0000088642" "0000146315" "0000088643" "0000146316" "0000088644" "0000146317" "0000088645" "0000146318" "0000088646" "0000146319" "0000088647" "0000146320" "0000088648" "0000146321" "0000088649" "0000146322" "0000088650" "0000146323" "0000088651" "0000146324" "0000088652" "0000146325" "0000088653" "0000146326" "0000088654" "0000146327" "0000088655" "0000146328" "0000088656" "0000146329" "0000088657" "0000146330" "0000088658" "0000146331" "0000088659" "0000146332" "0000088660" "0000146333" "0000088661" "0000146334" "0000088662" "0000146335" "0000088663" "0000146336" "0000088664" "0000146337" "0000088665" "0000146338" "0000088666" "0000146339" "0000088667" "0000146340" "0000088668" "0000146341" "0000088669" "0000146342" "0000088670" "0000146343" "0000088671" "0000146344" "0000088672" "0000146345" "0000088673" "0000146346" "0000088674" "0000146347" "0000088675" "0000146348" "0000088676" "0000146349" "0000088677" "0000146350" "0000088678" "0000146351" "0000088679" "0000146352" "0000088680" "0000146353" "0000088681" "0000146354" "0000088682" "0000146355" "0000088683" "0000146356" "0000088684" "0000146357" "0000088685" "0000146358" "0000088686" "0000146359" "0000088687" "0000146360" "0000088688" "0000146361" "0000088688" "0000163456" "0000088689" "0000146362" "0000088691" "0000146364" "0000088691" "0000163457" "0000088692" "0000146365" "0000088693" "0000146366" "0000088694" "0000146367" "0000088695" "0000146368" "0000088696" "0000146369" "0000088697" "0000146370" "0000088698" "0000146371" "0000088699" "0000146372" "0000088700" "0000146373" "0000088701" "0000146374" "0000088702" "0000146375" "0000088703" "0000146376" "0000088704" "0000146377" "0000088705" "0000146378" "0000088706" "0000146379" "0000088707" "0000146380" "0000088708" "0000146381" "0000088709" "0000146382" "0000088710" "0000146383" "0000088711" "0000146384" "0000088712" "0000146385" "0000088713" "0000146386" "0000088714" "0000146387" "0000088715" "0000146388" "0000088716" "0000146389" "0000088717" "0000146390" "0000088718" "0000146391" "0000088719" "0000146392" "0000088720" "0000146393" "0000088721" "0000146394" "0000088722" "0000146395" "0000088723" "0000146396" "0000088724" "0000146397" "0000088725" "0000146398" "0000088726" "0000146399" "0000088727" "0000146400" "0000088728" "0000146401" "0000088729" "0000146402" "0000088730" "0000146403" "0000088731" "0000146404" "0000088732" "0000146405" "0000088733" "0000146406" "0000088734" "0000146407" "0000088735" "0000146408" "0000088736" "0000146409" "0000088737" "0000146410" "0000088738" "0000146411" "0000088739" "0000146412" "0000088740" "0000146413" "0000088741" "0000146414" "0000088742" "0000146415" "0000088743" "0000146416" "0000088744" "0000146417" "0000088745" "0000146418" "0000088746" "0000146419" "0000088747" "0000146420" "0000088748" "0000146421" "0000088749" "0000146422" "0000088750" "0000146423" "0000088751" "0000146424" "0000088752" "0000146425" "0000088753" "0000146426" "0000088754" "0000146427" "0000088755" "0000146428" "0000088756" "0000146429" "0000088757" "0000146430" "0000088758" "0000146431" "0000088759" "0000146432" "0000088760" "0000146433" "0000088761" "0000146434" "0000088762" "0000146435" "0000088763" "0000146436" "0000088764" "0000146437" "0000088765" "0000146438" "0000088766" "0000146439" "0000088767" "0000146440" "0000088768" "0000146441" "0000088769" "0000146442" "0000088770" "0000146443" "0000088771" "0000146444" "0000088772" "0000146445" "0000088773" "0000146446" "0000088774" "0000146447" "0000088775" "0000146448" "0000088776" "0000146449" "0000088777" "0000146450" "0000088778" "0000146451" "0000088779" "0000146452" "0000088780" "0000146453" "0000088781" "0000146454" "0000088782" "0000146455" "0000088783" "0000146456" "0000088784" "0000146457" "0000088785" "0000146458" "0000088786" "0000146459" "0000088787" "0000146460" "0000088788" "0000146461" "0000088789" "0000146462" "0000088790" "0000146463" "0000088791" "0000146464" "0000088792" "0000146465" "0000088793" "0000146466" "0000088794" "0000146467" "0000088795" "0000146468" "0000088796" "0000146469" "0000088797" "0000146470" "0000088798" "0000146471" "0000088799" "0000146472" "0000088800" "0000146473" "0000088801" "0000146474" "0000088802" "0000146475" "0000088803" "0000146476" "0000088804" "0000146477" "0000088805" "0000146478" "0000088806" "0000146479" "0000088807" "0000146480" "0000088808" "0000146481" "0000088809" "0000146482" "0000088810" "0000146483" "0000088811" "0000146484" "0000088812" "0000146485" "0000088813" "0000146486" "0000088814" "0000146487" "0000088815" "0000146488" "0000088816" "0000146489" "0000088817" "0000146490" "0000088818" "0000146491" "0000088819" "0000146492" "0000088820" "0000146493" "0000088821" "0000146494" "0000088822" "0000146495" "0000088823" "0000146496" "0000088824" "0000146497" "0000088825" "0000146498" "0000088826" "0000146499" "0000088827" "0000146500" "0000088828" "0000146501" "0000088829" "0000146502" "0000088830" "0000146503" "0000088831" "0000146504" "0000088832" "0000146505" "0000088833" "0000146506" "0000088834" "0000146507" "0000088835" "0000146508" "0000088836" "0000146509" "0000088837" "0000146510" "0000088838" "0000146511" "0000088839" "0000146512" "0000088840" "0000146513" "0000088841" "0000146514" "0000088842" "0000146515" "0000088843" "0000146516" "0000088844" "0000146517" "0000088845" "0000146518" "0000088846" "0000146519" "0000088847" "0000146520" "0000088848" "0000146521" "0000088849" "0000146522" "0000088850" "0000146523" "0000088851" "0000146524" "0000088852" "0000146525" "0000088853" "0000146526" "0000088854" "0000146527" "0000088855" "0000146528" "0000088856" "0000146529" "0000088857" "0000146530" "0000088858" "0000146531" "0000088859" "0000146532" "0000088860" "0000146533" "0000088861" "0000146534" "0000088862" "0000146535" "0000088863" "0000146536" "0000088864" "0000146537" "0000088865" "0000146538" "0000088866" "0000146539" "0000088867" "0000146540" "0000088868" "0000146541" "0000088869" "0000146542" "0000088870" "0000146543" "0000088871" "0000146544" "0000088872" "0000146545" "0000088873" "0000146546" "0000088874" "0000146547" "0000088875" "0000146548" "0000088875" "0000146833" "0000088876" "0000146549" "0000088877" "0000146550" "0000088878" "0000146551" "0000088879" "0000146552" "0000088880" "0000146553" "0000088881" "0000146554" "0000088882" "0000146555" "0000088883" "0000146556" "0000088884" "0000146557" "0000088885" "0000146558" "0000088886" "0000146559" "0000088887" "0000146560" "0000088888" "0000146561" "0000088889" "0000146562" "0000088890" "0000146563" "0000088891" "0000146564" "0000088892" "0000146565" "0000088893" "0000146566" "0000088894" "0000146567" "0000088895" "0000146568" "0000088896" "0000146569" "0000088897" "0000146570" "0000088898" "0000146571" "0000088899" "0000146572" "0000088900" "0000146573" "0000088901" "0000146574" "0000088902" "0000146575" "0000088903" "0000146576" "0000088904" "0000146577" "0000088905" "0000146578" "0000088906" "0000146579" "0000088907" "0000146580" "0000088908" "0000146581" "0000088909" "0000146582" "0000088910" "0000146583" "0000088911" "0000146584" "0000088912" "0000146585" "0000088913" "0000146586" "0000088914" "0000146587" "0000088915" "0000146588" "0000088916" "0000146589" "0000088917" "0000146590" "0000088917" "0000146806" "0000088917" "0000146807" "0000088917" "0000146808" "0000088918" "0000146591" "0000088918" "0000146809" "0000088918" "0000146810" "0000088918" "0000146811" "0000088918" "0000146812" "0000088919" "0000146592" "0000088919" "0000146813" "0000088919" "0000146814" "0000088919" "0000146815" "0000088919" "0000146816" "0000088920" "0000146593" "0000088920" "0000146817" "0000088920" "0000146818" "0000088921" "0000146594" "0000088921" "0000146819" "0000088921" "0000146820" "0000088922" "0000146595" "0000088922" "0000146821" "0000088923" "0000146596" "0000088923" "0000146822" "0000088924" "0000146597" "0000088924" "0000146823" "0000088924" "0000146824" "0000088925" "0000146598" "0000088925" "0000146825" "0000088925" "0000146826" "0000088925" "0000146827" "0000088926" "0000146599" "0000088927" "0000146600" "0000088928" "0000146601" "0000088929" "0000146602" "0000088929" "0000146828" "0000088929" "0000146829" "0000088930" "0000146603" "0000088931" "0000146604" "0000088932" "0000146605" "0000088933" "0000146606" "0000088934" "0000146607" "0000088935" "0000146608" "0000088936" "0000146609" "0000088937" "0000146610" "0000088938" "0000146611" "0000088939" "0000146612" "0000088940" "0000146613" "0000088941" "0000146614" "0000088942" "0000146615" "0000088943" "0000146616" "0000088944" "0000146617" "0000088945" "0000146618" "0000088946" "0000146619" "0000088947" "0000146620" "0000088948" "0000146621" "0000088949" "0000146622" "0000088950" "0000146623" "0000088951" "0000146624" "0000088952" "0000146625" "0000088953" "0000146626" "0000088954" "0000146627" "0000088955" "0000146628" "0000088956" "0000146629" "0000088957" "0000146630" "0000088958" "0000146631" "0000088959" "0000146632" "0000088960" "0000146633" "0000088961" "0000146634" "0000088962" "0000146635" "0000088963" "0000146636" "0000088964" "0000146637" "0000088965" "0000146638" "0000088966" "0000146639" "0000088967" "0000146640" "0000088968" "0000146641" "0000088969" "0000146642" "0000088970" "0000146643" "0000088971" "0000146644" "0000088972" "0000146645" "0000088973" "0000146646" "0000088974" "0000146647" "0000088975" "0000146648" "0000088976" "0000146649" "0000088977" "0000146650" "0000088978" "0000146651" "0000088979" "0000146652" "0000088980" "0000146653" "0000088981" "0000146654" "0000088982" "0000146655" "0000088983" "0000146656" "0000088984" "0000146657" "0000088985" "0000146658" "0000088986" "0000146659" "0000088987" "0000146660" "0000088988" "0000146661" "0000088989" "0000146662" "0000088990" "0000146663" "0000088991" "0000146664" "0000088992" "0000146665" "0000088993" "0000146666" "0000088994" "0000146667" "0000088995" "0000146668" "0000088996" "0000146669" "0000088997" "0000146670" "0000088998" "0000146671" "0000088999" "0000146672" "0000089000" "0000146673" "0000089001" "0000146674" "0000089002" "0000146675" "0000089003" "0000146676" "0000089004" "0000146677" "0000089005" "0000146678" "0000089006" "0000146679" "0000089007" "0000146830" "0000089008" "0000146831" "0000089009" "0000146832" "0000089010" "0000146834" "0000089011" "0000146835" "0000089011" "0000146836" "0000089014" "0000146839" "0000089014" "0000146911" "0000089015" "0000146840" "0000089015" "0000146912" "0000089016" "0000146841" "0000089016" "0000146913" "0000089017" "0000146842" "0000089017" "0000146914" "0000089018" "0000146843" "0000089018" "0000146915" "0000089019" "0000146844" "0000089019" "0000146916" "0000089020" "0000146845" "0000089020" "0000146917" "0000089021" "0000146846" "0000089021" "0000146918" "0000089022" "0000146847" "0000089022" "0000146919" "0000089023" "0000146848" "0000089023" "0000146920" "0000089024" "0000146849" "0000089024" "0000146921" "0000089025" "0000146850" "0000089025" "0000146922" "0000089026" "0000146851" "0000089027" "0000146852" "0000089027" "0000146923" "0000089028" "0000146853" "0000089029" "0000146854" "0000089029" "0000146924" "0000089030" "0000146855" "0000089030" "0000146925" "0000089031" "0000146856" "0000089031" "0000146926" "0000089032" "0000146857" "0000089032" "0000146927" "0000089033" "0000146858" "0000089034" "0000146859" "0000089034" "0000146928" "0000089035" "0000146860" "0000089036" "0000146861" "0000089036" "0000146929" "0000089037" "0000146862" "0000089037" "0000146930" "0000089038" "0000146863" "0000089038" "0000146931" "0000089039" "0000146864" "0000089039" "0000146932" "0000089040" "0000146865" "0000089040" "0000146933" "0000089041" "0000146866" "0000089041" "0000146934" "0000089042" "0000146867" "0000089042" "0000146935" "0000089043" "0000146868" "0000089044" "0000146869" "0000089044" "0000146936" "0000089045" "0000146870" "0000089045" "0000146937" "0000089046" "0000146871" "0000089046" "0000146938" "0000089047" "0000146872" "0000089047" "0000146939" "0000089048" "0000146873" "0000089048" "0000146940" "0000089049" "0000146874" "0000089049" "0000146941" "0000089050" "0000146875" "0000089050" "0000146942" "0000089051" "0000146876" "0000089051" "0000146943" "0000089052" "0000146877" "0000089052" "0000146944" "0000089053" "0000146878" "0000089053" "0000146945" "0000089054" "0000146879" "0000089055" "0000146880" "0000089055" "0000146946" "0000089056" "0000146881" "0000089056" "0000146947" "0000089057" "0000146882" "0000089057" "0000146948" "0000089058" "0000146883" "0000089059" "0000146884" "0000089059" "0000146949" "0000089060" "0000146885" "0000089060" "0000146950" "0000089061" "0000146886" "0000089061" "0000146951" "0000089062" "0000146887" "0000089063" "0000146888" "0000089063" "0000146952" "0000089064" "0000146889" "0000089064" "0000146953" "0000089065" "0000146890" "0000089065" "0000146954" "0000089066" "0000146891" "0000089066" "0000146955" "0000089067" "0000146892" "0000089067" "0000146956" "0000089068" "0000146893" "0000089069" "0000146894" "0000089069" "0000146957" "0000089070" "0000146895" "0000089070" "0000146958" "0000089071" "0000146896" "0000089071" "0000146959" "0000089072" "0000146897" "0000089072" "0000146960" "0000089073" "0000146898" "0000089073" "0000146961" "0000089074" "0000146899" "0000089074" "0000146962" "0000089075" "0000146900" "0000089076" "0000146901" "0000089076" "0000146963" "0000089077" "0000146902" "0000089077" "0000146964" "0000089078" "0000146903" "0000089078" "0000146965" "0000089079" "0000146904" "0000089079" "0000146966" "0000089080" "0000146905" "0000089081" "0000146906" "0000089081" "0000146967" "0000089082" "0000146907" "0000089082" "0000146968" "0000089083" "0000146908" "0000089083" "0000146969" "0000089084" "0000146909" "0000089084" "0000146970" "0000089085" "0000146910" "0000089085" "0000146971" "0000100942" "0000163351" "0000100943" "0000163352" "0000100944" "0000163353" "0000100945" "0000163354" "0000100946" "0000163355" "0000100947" "0000163356" "0000100947" "0000163424" "0000100948" "0000163357" "0000100948" "0000163425" "0000100949" "0000163358" "0000100949" "0000163426" "0000100950" "0000163359" "0000100950" "0000163427" "0000100951" "0000163360" "0000100951" "0000163428" "0000100952" "0000163361" "0000100952" "0000163429" "0000100953" "0000163362" "0000100953" "0000163430" "0000100954" "0000163363" "0000100954" "0000163431" "0000100955" "0000163364" "0000100955" "0000163432" "0000100956" "0000163365" "0000100956" "0000163433" "0000100957" "0000163366" "0000100957" "0000163434" "0000100958" "0000163367" "0000100958" "0000163435" "0000100959" "0000163368" "0000100959" "0000163436" "0000100960" "0000163369" "0000100960" "0000163437" "0000100961" "0000163370" "0000100961" "0000163438" "0000100962" "0000163371" "0000100962" "0000163439" "0000100963" "0000163372" "0000100964" "0000163373" "0000100965" "0000163374" "0000100966" "0000163375" "0000100967" "0000163376" "0000100968" "0000163377" "0000100969" "0000163378" "0000100970" "0000163379" "0000100971" "0000163380" "0000100971" "0000163440" "0000100972" "0000163381" "0000100972" "0000163441" "0000100973" "0000163382" "0000100974" "0000163383" "0000100975" "0000163384" "0000100976" "0000163385" "0000100977" "0000163386" "0000100977" "0000163442" "0000100978" "0000163387" "0000100978" "0000163443" "0000100979" "0000163388" "0000100979" "0000163444" "0000100980" "0000163389" "0000100980" "0000163445" "0000100981" "0000163390" "0000100981" "0000163446" "0000100982" "0000163391" "0000100982" "0000163447" "0000100983" "0000163392" "0000100983" "0000163448" "0000100984" "0000163393" "0000100985" "0000163394" "0000100986" "0000163395" "0000100987" "0000163396" "0000100988" "0000163397" "0000100989" "0000163398" "0000100990" "0000163399" "0000100991" "0000163400" "0000100992" "0000163401" "0000100993" "0000163402" "0000100994" "0000163403" "0000100995" "0000163404" "0000100995" "0000163449" "0000100996" "0000163405" "0000100996" "0000163450" "0000100997" "0000163406" "0000100997" "0000163451" "0000100998" "0000163407" "0000100999" "0000163408" "0000101000" "0000163409" "0000101000" "0000163452" "0000101001" "0000163410" "0000101002" "0000163411" "0000101003" "0000163412" "0000101004" "0000163413" "0000101005" "0000163414" "0000101006" "0000163415" "0000101006" "0000163453" "0000101007" "0000163416" "0000101007" "0000163454" "0000101008" "0000163417" "0000101009" "0000163418" "0000101010" "0000163419" "0000101011" "0000163420" "0000101012" "0000163421" "0000101013" "0000163422" "0000101013" "0000163455" "0000101014" "0000163423" "0000101018" "0000163463" "0000101019" "0000163464" "0000101020" "0000163465" "0000101021" "0000163466" "0000101022" "0000163467" "0000101022" "0000163468" "0000247013" "0000499857" "0000292555" "0000649244" "0000292557" "0000649246" "0000292558" "0000649247" "0000292559" "0000649248" "0000292560" "0000649249" "0000292561" "0000649250" "0000292562" "0000649251" "0000296628" "0000653317" "0000296840" "0000653561" "0000300751" "0000663577" "0000300751" "0000663578" "0000300751" "0000663628" "0000300751" "0000663629" "0000300810" "0000663709" "0000300810" "0000664517" "0000305628" "0000669316" "0000305629" "0000669317" "0000305630" "0000669318" "0000305631" "0000669319" "0000305632" "0000669320" "0000310067" "0000684978" "0000310068" "0000684979" "0000310069" "0000684980" "0000310070" "0000684981" "0000310071" "0000684982" "0000329322" "0000713445" "0000329322" "0000713777" "0000332956" "0000730343" "0000335499" "0000733508" "0000335500" "0000733509" "0000335500" "0000733881" "0000376462" "0000788071" "0000376607" "0000788369" "0000376623" "0000788457" "0000376630" "0000788507" "0000381317" "0000794716" "0000381318" "0000794717" "0000383025" "0000797009" "0000388009" "0000816167" "0000391397" "0000821146" "0000391397" "0000821520" "0000391398" "0000821147" "0000392009" "0000822070" "0000392009" "0000822071" "0000392009" "0000822072" "0000392009" "0000822073" "0000392009" "0000822074" "0000392041" "0000822075" "0000392042" "0000822076" "0000392042" "0000822077" "0000392042" "0000822078" "0000392042" "0000822079" "0000392044" "0000822080" "0000392045" "0000822081" "0000392045" "0000822082" "0000392046" "0000822083" "0000395619" "0000827010" "0000396046" "0000827611" "0000396051" "0000827616" "0000410404" "0000847695" "0000410405" "0000847696" "0000410406" "0000847697" "0000410407" "0000847698" "0000410408" "0000847699" "0000410409" "0000847700" "0000410410" "0000847701" "0000410411" "0000847702" "0000410412" "0000847703" "0000410413" "0000847704" "0000410414" "0000847705" "0000410415" "0000847706" "0000410416" "0000847707" "0000410417" "0000847708" "0000410418" "0000847709" "0000410419" "0000847710" "0000410420" "0000847711" "0000410421" "0000847712" "0000410422" "0000847713" "0000410423" "0000847714" "0000410424" "0000847715" "0000410425" "0000847716" "0000410426" "0000847717" "0000410427" "0000847718" "0000410428" "0000847719" "0000410429" "0000847720" "0000410430" "0000847721" "0000410431" "0000847722" "0000410432" "0000847723" "0000410433" "0000847724" "0000410434" "0000847725" "0000410435" "0000847726" "0000410436" "0000847727" "0000410437" "0000847728" "0000410438" "0000847729" "0000410439" "0000847730" "0000410440" "0000847731" "0000410441" "0000847732" "0000410442" "0000847733" "0000410443" "0000847734" "0000410444" "0000847735" "0000410445" "0000847736" "0000410446" "0000847737" "0000410447" "0000847738" "0000410448" "0000847739" "0000410449" "0000847740" "0000410450" "0000847741" "0000410451" "0000847742" "0000410452" "0000847743" "0000410453" "0000847744" "0000410454" "0000847745" "0000410455" "0000847746" "0000410456" "0000847747" "0000410457" "0000847748" "0000410458" "0000847749" "0000410459" "0000847750" "0000428242" "0000905911" "0000448346" "0000957753" "0000448347" "0000957754" "0000448747" "0000958233" "0000448753" "0000958576" "0000448789" "0000958590" "0000448987" "0000959205" "0000449087" "0000959290" "0000449088" "0000959293" "0000449255" "0000959022" "0000449301" "0000959068" "0000472361" "0001060873"