### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALMS1) # 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}}" "ALMS1" "Alstrom syndrome 1" "2" "p13.1" "unknown" "NG_011690.1" "UD_132118363105" "" "https://www.LOVD.nl/ALMS1" "" "1" "428" "7840" "606844" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases and part of the EURO-WABB project:, the EU registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes." "" "g" "https://databases.lovd.nl/shared/refseq/ALMS1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases and the EURO-WABB
project, the EU registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome
and other rare diabetes syndromes." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2020-11-11 15:10:01" "00000" "2025-09-16 15:59:03" ## 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}}" "00025924" "ALMS1" "transcript variant 2 (removed from reference sequence)" "000" "NM_001378454.1" "" "NP_001365383.1" "" "" "MANE select" "-33" "12811" "12507" "1" "1" "00006" "2024-05-17 17:19:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{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" "" "" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01645" "ALMS" "Alstrom syndrome (ALMS)" "AR" "203800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01943" "LGMDR2;LGMD2B" "dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD2B)" "AR" "253601" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-12 20:47:59" "02469" "MCKD2" "kidney disease, cystic, medullary, type 2 (MCKD-2)" "" "603860" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" "04213" "COD" "dystrophy, cone (COD)" "" "" "" "" "" "00006" "2015-02-27 19:22:18" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04230" "ACHM" "achromatopsia (ACHM)" "" "" "" "" "" "00006" "2015-03-22 20:43:12" "" "" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05339" "CHTD" "disease, heart, congenital (CHTD)" "" "" "" "" "" "00006" "2017-11-05 11:35:27" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ALMS1" "01645" ## Individuals ## Do not remove or alter this header ## ## Count = 147 "{{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}}" "00034519" "" "" "" "6" "" "01263" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "4-generation family, 6 affecteds (3F, 3M), family, unaffected heterozygous carrier parents/sibs" "" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00046458" "" "" "" "2" "" "01349" "{PMID:Lazar 2015:26077327}; {DOI:Lazar 2015:10.1002/humu.22822}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/sister" "F" "" "Israel" "" "0" "" "" "Arab, Muslim" "FamPatIII4" "00050677" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected and affected2nd degree relatives" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00073166" "" "" "00046458" "1" "" "01606" "{PMID:Lazar 2015:26077327}, {DOI:Lazar 2015:10.1002/humu.22822}" "brother" "M" "yes" "Palestine" "" "0" "" "" "" "26077327-PatIII4" "00081023" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00100098" "" "" "" "1" "" "01769" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKRD176;61176" "00154952" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00155380" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00205367" "" "" "" "1" "" "03100" "" "" "M" "no" "Spain" "" "0" "Yes" "" "white" "" "00207481" "" "" "" "1" "" "01244" "" "" "M" "" "" "" "0" "" "" "" "" "00207616" "" "" "" "4" "" "01244" "" "" "F" "" "" "" "0" "" "" "" "" "00288207" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat17" "00292823" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292824" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292825" "" "" "" "100" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292826" "" "" "" "41" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292827" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292828" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292829" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292830" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292831" "" "" "" "137" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295303" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304834" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304835" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308473" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308474" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308945" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308946" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308947" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308948" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00315500" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "F" "" "Switzerland" "57y" "" "" "" "Europe" "SUDS066" "00324526" "" "" "" "1" "" "03960" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Japan" ">20y" "0" "" "" "" "patient" "00325425" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "1577" "00328291" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "W000162" "00328848" "" "" "" "1" "" "00000" "{PMID:Katagiri 2017:29681726}" "" "M" "" "Japan" "" "0" "" "" "" "JU#1085" "00331729" "" "" "" "1" "" "00000" "{PMID:Sanchez-Navarro 2018:29588463}" "" "" "" "Spain" "" "0" "" "" "" "RP-1232" "00331730" "" "" "" "1" "" "00000" "{PMID:Sanchez-Navarro 2018:29588463}" "" "" "" "Spain" "" "0" "" "" "" "RP-2186" "00331731" "" "" "" "1" "" "00000" "{PMID:Sanchez-Navarro 2018:29588463}" "" "" "" "Spain" "" "0" "" "" "" "RP-2177" "00332287" "" "" "" "1" "" "00000" "{PMID:Porto 2017:29186038}" "proband" "" "" "Brazil" "" "0" "" "" "" "Fam32PatFBP_170" "00333360" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat14" "00358808" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "F" "no" "United States" "" "0" "" "" "" "AR400-03" "00358830" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "176610" "00358917" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27422788}" "family, 1 affected, unaffected heterozygous carrier parents" "" "" "China" "" "0" "" "" "Han" "Fam29" "00361833" "" "" "" "2" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "yes" "Iran" "" "0" "" "" "" "Pat47" "00361835" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "no" "Iran" "" "0" "" "" "" "Pat48" "00361837" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "yes" "Iran" "" "0" "" "" "" "Pat49" "00362081" "" "" "" "1" "" "00006" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT148" "00362082" "" "" "" "1" "" "00006" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT230" "00362083" "" "" "" "1" "" "00006" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT395" "00362084" "" "" "" "1" "" "00006" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT989" "00362085" "" "" "" "1" "" "00006" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "" "" "China" "" "0" "" "" "" "QT1249" "00362921" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "CHRO234" "00363611" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0142" "00363629" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1288" "00363633" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1583" "00363664" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG1978" "00363704" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG1296" "00372499" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "497" "00372501" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "123" "00372502" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "162" "00372505" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "128" "00372506" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "165" "00372507" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "695" "00372509" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "126" "00372666" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "F" "" "China" "" "0" "" "" "" "RP016" "00372678" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP367" "00372689" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP109" "00372690" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP190" "00372707" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP160" "00372725" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP308" "00373497" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "M" "" "China" "" "0" "" "" "" "RH10-PatII1" "00373509" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "" "" "China" "" "0" "" "" "" "RH11" "00373883" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-322-765" "00375411" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#002" "00375421" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#013" "00375425" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#019" "00375435" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#030" "00379810" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016101713" "00380123" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "likely" "Oman" "" "0" "" "" "" "09DG00838" "00380127" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG0115" "00380135" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG0838" "00381236" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "patient carry novel LOF mutation in other retinal disease genes" "" "no" "" "" "0" "" "" "" "" "00381238" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "patient carry homozygous novel missense mutation in other retinal disease genes.Alström syndrome" "" "no" "" "" "0" "" "" "" "" "00382480" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "342" "00383152" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383153" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383408" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00384255" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13196" "00384261" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13263" "00384264" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13286" "00384275" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13360" "00384305" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13559" "00384334" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13738" "00384990" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "10131" "00384991" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "10159" "00385078" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "67280" "00385082" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "67340" "00385227" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Turkey" "" "0" "" "" "" "" "00385228" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Morocco" "" "0" "" "" "" "" "00385231" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "Melanesian" "" "00385232" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "France" "" "0" "" "" "" "" "00385235" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Portugal" "" "0" "" "" "" "" "00385451" "" "" "" "1" "" "00006" "{PMID:Ackerman 2016:27452334}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "" "patient" "00385698" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04182" "" "" "F" "no" "China" "" "" "" "" "Asian" "" "00385951" "" "" "" "1" "" "00000" "{PMID:Aliferis-2012:22004009}" "novel" "M" "" "" "" "0" "" "" "" "" "00385952" "" "" "" "1" "" "00000" "{PMID:Aliferis-2012:22004009}" "" "M" "" "" "" "0" "" "" "" "" "00385953" "" "" "" "1" "" "00000" "{PMID:Aliferis-2012:22004009}" "novel" "M" "" "" "" "0" "" "" "" "" "00385954" "" "" "" "1" "" "00000" "{PMID:Aliferis-2012:22004009}" "novel" "F" "" "" "" "0" "" "" "" "" "00386693" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI1255_002424" "00387460" "" "" "" "2" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "F" "" "Spain" "" "0" "" "" "Spanish" "" "00387883" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents once removed" "" "yes" "Iran" "" "0" "" "" "Persia" "M9000095" "00388029" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27788217}" "" "M" "" "United States" "" "0" "" "" "" "4" "00388535" "" "" "" "1" "" "00000" "{PMID:Hirano 2020:32451492}" "" "M" "no" "Japan" "" "0" "" "" "" "Patient-1" "00388536" "" "" "" "1" "" "00000" "{PMID:Hirano 2020:32451492}" "" "M" "yes" "Japan" "" "0" "" "" "" "Patient-2" "00388537" "" "" "" "1" "" "00000" "{PMID:Hirano 2020:32451492}" "" "M" "yes" "Japan" "" "0" "" "" "" "Patient-3" "00389090" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 125, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "374" "00389091" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 125, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "375" "00389229" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 170, unclassified / mixed, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "513" "00389257" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 191, unclassified / mixed, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "541" "00389296" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 210, unclassified / mixed, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "580" "00389327" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 220, unclassified / mixed, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "611" "00389397" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 247, unclassified / mixed, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "681" "00389398" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 248, unclassified / mixed, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "682" "00389614" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 378, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "898" "00390163" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000162" "00390465" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G008210" "00391547" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "Pacific" "44" "00391548" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "white" "45" "00391549" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "white" "46" "00392273" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "26" "00393502" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393854" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00394357" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "AS1" "00394358" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "AS2" "00395572" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-0903" "00395607" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2882" "00395751" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F287" "00395758" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F260" "00419210" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00419452" "" "" "" "1" "" "04400" "" "" "M" "" "" "" "" "" "" "" "" "00420554" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F260" "00420575" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F287" "00426898" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 1, individual 1" "M" "" "" "" "0" "" "" "" "1_1" "00436611" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "M" "no" "Mexico" "" "" "" "None" "Hispanic" "3453231" "00447699" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "SRP-841" "00451680" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "" "" "00457669" "" "" "" "1" "" "00006" "{PMID:Lord 2024:39243181}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatALMS1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 148 "{{individualid}}" "{{diseaseid}}" "00034519" "04210" "00046458" "00058" "00046458" "01943" "00050677" "00198" "00073166" "01645" "00073166" "01943" "00081023" "01645" "00100098" "04214" "00154952" "00198" "00155380" "04210" "00207481" "04210" "00207616" "02469" "00288207" "00198" "00292823" "00198" "00292824" "00198" "00292825" "00198" "00292826" "00198" "00292827" "00198" "00292828" "00198" "00292829" "00198" "00292830" "00198" "00292831" "00198" "00295303" "00198" "00304834" "00198" "00304835" "00198" "00308473" "04214" "00308474" "04214" "00308945" "04214" "00308946" "04214" "00308947" "04214" "00308948" "04214" "00315500" "05166" "00324526" "04213" "00325425" "04214" "00328291" "04214" "00328848" "04214" "00331729" "04214" "00331730" "04214" "00331731" "04214" "00332287" "04214" "00333360" "04214" "00358808" "04212" "00358830" "01645" "00358917" "04214" "00361833" "01645" "00361835" "01645" "00361837" "01645" "00362081" "04214" "00362082" "04214" "00362083" "04214" "00362084" "04214" "00362085" "04214" "00362921" "04214" "00363611" "04214" "00363629" "04214" "00363633" "04214" "00363664" "04214" "00363704" "04214" "00372499" "04214" "00372501" "04214" "00372502" "04214" "00372505" "04214" "00372506" "04214" "00372507" "04214" "00372509" "04214" "00372666" "04214" "00372678" "04214" "00372689" "04214" "00372690" "04214" "00372707" "04214" "00372725" "04214" "00373497" "04214" "00373509" "04214" "00373883" "04214" "00375411" "04214" "00375421" "04214" "00375425" "04214" "00375435" "04214" "00379810" "04214" "00380123" "04214" "00380127" "04214" "00380135" "04214" "00381236" "04214" "00381238" "04214" "00382480" "04214" "00383152" "04214" "00383153" "04214" "00383408" "04214" "00384255" "04214" "00384261" "04214" "00384264" "04214" "00384275" "04214" "00384305" "04214" "00384334" "04214" "00384990" "04214" "00384991" "04214" "00385078" "04214" "00385082" "04214" "00385227" "04214" "00385228" "04214" "00385231" "04214" "00385232" "04214" "00385235" "04214" "00385451" "05339" "00385698" "01645" "00385951" "04214" "00385952" "04214" "00385953" "04214" "00385954" "04214" "00386693" "04214" "00387460" "04214" "00387883" "00139" "00388029" "04214" "00388535" "04214" "00388536" "04214" "00388537" "04214" "00389090" "04214" "00389091" "04214" "00389229" "04214" "00389257" "04214" "00389296" "04214" "00389327" "04214" "00389397" "04214" "00389398" "04214" "00389614" "04214" "00390163" "04214" "00390465" "05611" "00391547" "04214" "00391548" "04214" "00391549" "04214" "00392273" "04214" "00393502" "04214" "00393854" "04214" "00394357" "04214" "00394358" "04214" "00395572" "04214" "00395607" "04214" "00395751" "04214" "00395758" "04214" "00419210" "00198" "00419452" "00000" "00420554" "04214" "00420575" "04214" "00426898" "04214" "00436611" "01645" "00447699" "00198" "00451680" "04230" "00457669" "01645" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00058, 00139, 00198, 01645, 01943, 02469, 04210, 04212, 04213, 04214, 04230, 05166, 05339, 05611 ## Count = 133 "{{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}}" "0000027923" "04210" "00034519" "01263" "Familial, autosomal recessive" "" "see paper; nystagmus, cataracts, fundus defects, other retinal defects; no other syndromic phenotypes (no hearing loss, no obesity)" "" "" "" "" "" "" "" "" "" "" "" "0000034252" "00058" "00046458" "01349" "Familial, autosomal recessive" "" "visual loss (HP:0000572), photophobia (HP:0000613), pendular nystagmus (HP:0012043), rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "0000034253" "01943" "00046458" "01349" "Familial, autosomal recessive" "" "muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340)" "" "" "" "" "" "" "" "" "LGMD-2B" "" "" "0000037289" "00198" "00050677" "00006" "Unknown" "" "truncal obesity, joint hypermobility, obstructive sleep apnea, central sleep apnea, delayed speech and language development, hypernasal speech" "" "" "" "" "" "" "" "" "" "" "" "0000052835" "01645" "00073166" "01606" "Familial, autosomal recessive" "" "Visual loss (HP:0000572), Photophobia (HP:0000613), Pendular nystagmus (HP:0012043)," "" "" "" "" "" "" "" "" "" "" "" "0000060592" "01645" "00081023" "01758" "Familial, autosomal recessive" "" "Alstrom syndrome (OMIM:203800)" "" "" "" "" "" "" "" "" "" "" "" "0000127684" "00198" "00154952" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Autistic behavior (HP:0000729); Cardiomyopathy (HP:0001638)" "" "" "" "" "" "" "" "" "" "" "" "0000127880" "04210" "00155380" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000155258" "04210" "00207481" "01244" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155425" "02469" "00207616" "01244" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201928" "01943" "00073166" "00006" "Familial, autosomal recessive" "" "muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340)" "" "" "" "" "" "" "" "" "LGMD-2B" "" "" "0000221944" "00198" "00288207" "00006" "Familial, autosomal recessive" "5y" "abnormality of the tympanic membrane, acanthosis nigricans, accelerated skeletal maturation, astigmatism, blepharophimosis, broad foot, chronic otitis media, developmental delay, dysmorphic features, hepatic steatosis, hypermetropia, increased body weight, long palm, macrocephaly, myopia, nystagmus, photophobia, polyphagia,premature adrenarche, round face, short toe, sleep apnea, sleep disturbance, sparse pubic hair, visual impairment" "" "" "" "" "" "" "" "" "" "" "" "0000233901" "04214" "00308473" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233902" "04214" "00308474" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234265" "04214" "00308945" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234266" "04214" "00308946" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alstrom Syndrome" "" "0000234267" "04214" "00308947" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alstrom Syndrome" "" "0000234268" "04214" "00308948" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alstrom Syndrome" "" "0000243071" "04213" "00324526" "03960" "Familial, autosomal recessive" "" "see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)" "06y" "20y" "photophobia, reduiced visual acuity" "" "" "" "" "" "" "cone dystrophy" "" "0000243912" "04214" "00325425" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246518" "04214" "00328291" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000247052" "04214" "00328848" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000249921" "04214" "00331729" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, hearing loss, obesity, diabetes, NPHP, hypogonadism, hypothyroidism, hyperinsulinemia, acantosis nigricans" "" "" "" "" "" "" "" "" "" "Alström syndrome" "" "0000249922" "04214" "00331730" "00000" "Familial, autosomal recessive" "" "early retinal dystrophy, overweight, dilated cardiomyopathy, diabetes" "" "" "" "" "" "" "" "" "" "Alström syndrome" "" "0000249923" "04214" "00331731" "00000" "Familial, autosomal recessive" "" "cone-rod dystrophy, hearing loss, dilated cardiomyopathy" "" "" "" "" "" "" "" "" "" "Alström syndrome" "" "0000250474" "04214" "00332287" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" "" "0000251547" "04214" "00333360" "00000" "Familial, autosomal dominant" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254023" "04212" "00358808" "00000" "Unknown" "11y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254045" "01645" "00358830" "01164" "Familial, autosomal recessive" "51y" "(+) Renal insufficiency,(+) Hearing impairment,(+) Depressivity,(+) Hepatic steatosis,(+) Obesity,(+) Dilated cardiomyopathy,(+) Type II diabetes mellitus,(+) Retinitis / Sister cardiomyopathy at 23 yrs also RP, hearing loss, kidney and liver problems." "" "" "" "" "" "" "" "" "" "" "" "0000254177" "04214" "00358917" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000257225" "01645" "00361833" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Alström syndrome" "Usher syndrome" "" "0000257227" "01645" "00361835" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Alström syndrome" "Usher syndrome" "" "0000257229" "01645" "00361837" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Alström syndrome" "Usher syndrome" "" "0000257495" "04214" "00362081" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000257496" "04214" "00362082" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000257497" "04214" "00362083" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000257498" "04214" "00362084" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000257499" "04214" "00362085" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000258287" "04214" "00362921" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Alström syndrome" "" "0000258961" "04214" "00363611" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinal dystrophy, unspecfied" "" "0000258979" "04214" "00363629" "00000" "Isolated (sporadic)" "" "syndromic" "" "" "" "" "" "" "" "" "" "Alstrom syndrome" "" "0000258983" "04214" "00363633" "00000" "Familial" "" "syndromic" "" "" "" "" "" "" "" "" "" "Alstrom syndrome" "" "0000259014" "04214" "00363664" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000259054" "04214" "00363704" "00000" "Familial" "" "syndromic" "" "" "" "" "" "" "" "" "" "Alstrom syndrome" "" "0000267814" "04214" "00372499" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267816" "04214" "00372501" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267817" "04214" "00372502" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267820" "04214" "00372505" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267821" "04214" "00372506" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267822" "04214" "00372507" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267824" "04214" "00372509" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267945" "04214" "00372666" "00000" "Familial, autosomal recessive" "28y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267957" "04214" "00372678" "00000" "Isolated (sporadic)" "20y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267968" "04214" "00372689" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267969" "04214" "00372690" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267986" "04214" "00372707" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268004" "04214" "00372725" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268773" "04214" "00373497" "00000" "Familial, autosomal recessive" "18y" "see paper; ..." "5m" "" "" "" "" "" "" "" "" "Alström syndrome" "" "0000268785" "04214" "00373509" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macula degeneration" "" "0000269092" "04214" "00373883" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ciliopathy" "" "0000270625" "04214" "00375411" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270635" "04214" "00375421" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270639" "04214" "00375425" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270649" "04214" "00375435" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273664" "04214" "00379810" "00000" "Familial, autosomal recessive" "" "patient did not show characteristic Alstrom syndromic features such as obesity, hearing loss, diabetes mellitus, and learning difficulties." "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy?" "" "0000273978" "04214" "00380123" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome (ALMS)" "" "0000273982" "04214" "00380127" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome (ALMS)" "" "0000273990" "04214" "00380135" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome (ALMS)" "" "0000275087" "04214" "00381236" "00000" "Familial" "" "" "8y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000275089" "04214" "00381238" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000276329" "04214" "00382480" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276942" "04214" "00383152" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276943" "04214" "00383153" "00000" "Familial, autosomal recessive" "" "obesity, learning disability" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000277193" "04214" "00383408" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Alstrom syndrome" "" "0000278040" "04214" "00384255" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000278046" "04214" "00384261" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000278049" "04214" "00384264" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000278060" "04214" "00384275" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000278090" "04214" "00384305" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy+high myopia" "" "0000278119" "04214" "00384334" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis(BBS)" "" "0000278774" "04214" "00384990" "00000" "Isolated (sporadic)" "6y" "photophobia, nystagmus, best corrected visual acuity right/left eye: 0.02/0.04" "10m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278775" "04214" "00384991" "00000" "Isolated (sporadic)" "3y" "photophobia, nystagmus, best corrected visual acuity right/left eye: NA" "3m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278862" "04214" "00385078" "00000" "Isolated (sporadic)" "5y6m" "photophobia, no nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.25/0.25" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278866" "04214" "00385082" "00000" "Familial, autosomal recessive" "7y" "photophobia, nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: LP/LP" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000279023" "04214" "00385227" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279024" "04214" "00385228" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279027" "04214" "00385231" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279028" "04214" "00385232" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279031" "04214" "00385235" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279246" "05339" "00385451" "00006" "Isolated (sporadic)" "" "see paper; ..., mild pulmonary valve stenosis, mild aortic root dilatation, atrial septal defect, ventricular septal defect, patent ductus arteriosus (closed surgically); polyvalvular syndrome, involvement both semilunar and both atrioventricular valves; hypotonia, myopia, soft pale skin, joint hypermobility, mild facial dysmorphism" "" "" "" "" "" "" "" "" "CHTD2" "" "" "0000279512" "01645" "00385698" "04182" "Familial, autosomal dominant" "30y" "obesity (HP:0001513), insulin resistance (HP:0000855), sensorineural hearing loss (HP:0000407), renal insufficiency (HP:0000083),\r\nhypothyroidism (HP:0000821)" "10y" "30y" "Diabetes mellitus HP:0000819" "" "" "" "" "" "Alstrom syndrome" "diabetes" "" "0000279752" "04214" "00385951" "00000" "Familial" "5y" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome" "" "0000279753" "04214" "00385952" "00000" "Familial" "4y" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome" "" "0000279754" "04214" "00385953" "00000" "Familial" "2y" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome" "" "0000279755" "04214" "00385954" "00000" "Familial" "4y" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome" "" "0000280493" "04214" "00386693" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281023" "04214" "00387460" "00000" "Familial, autosomal recessive" "51y" "retinal dystrophy, obesity, polydactyly, cognitive impairment, renal abnormalities, cardiovascular abnormalities, type 2 diabetes mellitus" "" "" "" "" "" "" "" "" "" "Alstrom syndrome (ALMS)" "" "0000281451" "00139" "00387883" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281624" "04214" "00388029" "00000" "Familial, autosomal recessive" "" "Blindness, hearing loss, severe mental retardation" "9y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000282076" "04214" "00388535" "00000" "Familial, autosomal recessive" "11y" "intellectual disability, rod-cone dystrophy, obesity, BMI 23.9, speech delay or disorder, diabetes mellitus, mitral valve regurgitation, nystagmus" "" "" "" "" "" "" "" "" "Alstrom syndrome" "Alstrom syndrome" "" "0000282077" "04214" "00388536" "00000" "Familial, autosomal recessive" "29y" "rod-cone dystrophy, obesity, BMI: 25.96, hypogonadism, cataract, asthma, diabetes mellitus" "" "" "" "" "" "" "" "" "Alstrom syndrome" "Alstrom syndrome" "" "0000282078" "04214" "00388537" "00000" "Familial, autosomal recessive" "23y" "rod-cone dystrophy, no obesity, BMI: 21.6, hypogonadism, cataract, asthma" "" "" "" "" "" "" "" "" "Alstrom syndrome" "Alstrom syndrome" "" "0000282631" "04214" "00389090" "00000" "Familial, autosomal recessive" "34y" "age at genetic diagnosis mentioned" "" "31y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282632" "04214" "00389091" "00000" "Familial, autosomal recessive" "37y" "age at genetic diagnosis mentioned" "" "34y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282770" "04214" "00389229" "00000" "Familial, autosomal recessive" "23y" "age at genetic diagnosis mentioned" "" "15y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000282798" "04214" "00389257" "00000" "Familial, autosomal recessive" "29y" "age at genetic diagnosis mentioned" "" "22y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000282837" "04214" "00389296" "00000" "Familial, autosomal recessive" "26y" "age at genetic diagnosis mentioned" "" "21y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000282868" "04214" "00389327" "00000" "Familial, autosomal recessive" "15y" "age at genetic diagnosis mentioned" "" "9y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000282938" "04214" "00389397" "00000" "Familial, autosomal recessive" "7y" "age at genetic diagnosis mentioned" "" "4y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000282939" "04214" "00389398" "00000" "Familial, autosomal recessive" "5y" "age at genetic diagnosis mentioned" "" "2y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000283155" "04214" "00389614" "00000" "Familial, autosomal recessive" "64y" "age at genetic diagnosis mentioned" "" "63y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283701" "04214" "00390163" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284003" "05611" "00390465" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Neurological and Developmental Disorders" "" "0000284883" "04214" "00391547" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000284884" "04214" "00391548" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome / early onset severe retinal dystrophy" "" "0000284885" "04214" "00391549" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome / early onset severe retinal dystrophy" "" "0000285551" "04214" "00392273" "00000" "Familial, autosomal recessive" "11y" "anterior subcapsular cataract, retinal dystrophy, nystagmus, achromatopsia, mild hypermetropia, exotropia, asthma, autism, developmental delay, learning difficulties, diabetes mellitus, obesity, acanthosis nigracans" "" "6y6m" "" "" "" "" "" "" "Alstrom syndrome" "" "" "0000286708" "04214" "00393502" "00000" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000287060" "04214" "00393854" "00000" "Isolated (sporadic)" "26y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287561" "04214" "00394357" "00000" "Familial, autosomal recessive" "" "Visual impairment, nystagmus, and cone-rod dystrophy, electroretinogram consistent with Alstrom syndrome" "" "" "" "" "" "" "" "" "Alstrom syndrome" "" "" "0000287562" "04214" "00394358" "00000" "Familial, autosomal recessive" "" "Visual impairment, nystagmus, and cone-rod dystrophy, N/A" "" "" "" "" "" "" "" "" "Alstrom syndrome" "" "" "0000288770" "04214" "00395572" "00000" "Familial, autosomal recessive" "" "exudative retinal detachment, nystagmus, rod-cone dystrophy, photophobia, conductive hearing impairment, obesity, delayed puberty, elevated alkaline phosphatase, pulmonary tuberculosis, abnormality of finger, brachydactyly syndrome, kyphoscoliosis, gynecomastia, deeply set eye, thin upper lip vermilion, alopecia" "" "" "" "" "" "" "" "" "Alstrom syndrome" "Alstrom-like syndrome" "" "0000288805" "04214" "00395607" "00000" "Isolated (sporadic)" "" "congenital cataract, early onset rod-cone dystrophy, lens luxation, photophobia, hearing impairment, obesity, abnormality of the anterior pituitary, amenorrhea, hypothyroidism, iron deficiency anemia, lactose intolerance, prolactin excess, type ii diabetes mellitus, polycystic ovaries" "" "" "" "" "" "" "" "" "" "Alstrom-like syndrome" "" "0000288913" "04214" "00395751" "00000" "Unknown" "3y11m" "" "1y" "" "" "" "" "" "" "" "Alström syndrom" "" "" "0000288920" "04214" "00395758" "00000" "Unknown" "5y8m" "" "2y" "" "" "" "" "" "" "" "Alström syndrom" "" "" "0000311802" "04214" "00420554" "00000" "Familial, autosomal recessive" "5y8m" "" "2y" "" "" "" "" "" "" "" "Alstrom syndrome" "" "" "0000311823" "04214" "00420575" "00000" "Familial, autosomal recessive" "3y11m" "" "1y" "" "" "" "" "" "" "" "Alstrom syndrome" "" "" "0000318036" "04214" "00426898" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome" "early-onset severe retinal dystrophy" "" "0000322110" "05166" "00315500" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000326757" "01645" "00436611" "04552" "Familial, autosomal recessive" "06y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Color vision defect HP: 0000551, Acanthosis nigricans HP:0000956, Abnormality of retinal pigmentation HP:0007703" "06y" "13y" "" "" "" "" "" "" "# 203800" "Cone rod dystrophy" "" "0000336898" "00198" "00447699" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000340340" "04230" "00451680" "03544" "Isolated (sporadic)" "" "HP:0000478, HP:0000613, HP:0000252, HP:0000271" "" "" "" "" "" "" "" "" "ALMS" "achromatopsia" "" "0000346128" "01645" "00457669" "00006" "Unknown" "" "see paper; ..., abnormal visual electrophysiology; abnormal eye physiology; abnormal retinal morphology; abnormality of vision" "" "" "" "" "" "" "" "" "" "cone dysfunction syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 147 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034590" "00034519" "1" "01263" "01263" "2011-07-08 19:02:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000046563" "00046458" "1" "00006" "00006" "2015-07-10 20:04:20" "" "" "arraySNP;SEQ-NG" "DNA" "" "" "0000050622" "00050677" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000073325" "00073166" "1" "01606" "01606" "2016-06-09 11:17:42" "" "" "arraySNP;SEQ" "DNA" "" "" "0000081135" "00081023" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100502" "00100098" "1" "01769" "01769" "2017-01-30 18:48:35" "" "" "SEQ" "DNA" "WBC" "" "0000155813" "00154952" "0" "01807" "01807" "2018-03-07 03:58:23" "" "" "SEQ" "DNA" "" "" "0000156245" "00155380" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000206397" "00205367" "1" "03100" "03100" "2018-11-11 11:08:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000208517" "00207481" "1" "01244" "01244" "2018-11-23 15:03:37" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000208654" "00207616" "1" "01244" "01244" "2018-11-26 17:05:11" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000289376" "00288207" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000293991" "00292823" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293992" "00292824" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293993" "00292825" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293994" "00292826" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293995" "00292827" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293996" "00292828" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293997" "00292829" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293998" "00292830" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293999" "00292831" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296471" "00295303" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305963" "00304834" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305964" "00304835" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309618" "00308473" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309619" "00308474" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000310090" "00308945" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310091" "00308946" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310092" "00308947" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310093" "00308948" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000325718" "00324526" "1" "03960" "03960" "2020-12-18 10:26:14" "00006" "2021-01-05 14:19:27" "SEQ;SEQ-NG" "DNA" "Blood" "WES" "0000325861" "00315500" "1" "01602" "01602" "2020-12-21 14:12:20" "01602" "2023-02-15 09:45:58" "SEQ-NG-I" "DNA" "" "" "0000326636" "00325425" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329506" "00328291" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000330064" "00328848" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332948" "00331729" "1" "00000" "00006" "2021-02-13 09:57:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332949" "00331730" "1" "00000" "00006" "2021-02-13 09:57:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332950" "00331731" "1" "00000" "00006" "2021-02-13 09:57:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000333507" "00332287" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel" "0000334585" "00333360" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000360038" "00358808" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360060" "00358830" "1" "01164" "01164" "2021-03-15 09:43:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000360150" "00358917" "1" "00000" "00006" "2021-03-17 09:43:06" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000363062" "00361833" "1" "02404" "02404" "2021-04-11 13:26:10" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363064" "00361835" "1" "02404" "02404" "2021-04-11 13:32:53" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363066" "00361837" "1" "02404" "02404" "2021-04-11 13:44:45" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363310" "00362081" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000363311" "00362082" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000363312" "00362083" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000363313" "00362084" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000363314" "00362085" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000364149" "00362921" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000364839" "00363611" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364857" "00363629" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364861" "00363633" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364892" "00363664" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364932" "00363704" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373732" "00372499" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373734" "00372501" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373735" "00372502" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373738" "00372505" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373739" "00372506" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373740" "00372507" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373742" "00372509" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373898" "00372666" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373910" "00372678" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373921" "00372689" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373922" "00372690" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373939" "00372707" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373957" "00372725" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374732" "00373497" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000374744" "00373509" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000375115" "00373883" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000376608" "00375411" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376618" "00375421" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376622" "00375425" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376632" "00375435" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000381012" "00379810" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000381325" "00380123" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel" "0000381329" "00380127" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000381337" "00380135" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel" "0000382451" "00381236" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382453" "00381238" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000383694" "00382480" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000384376" "00383152" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384377" "00383153" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384633" "00383408" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000385480" "00384255" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385486" "00384261" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385489" "00384264" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385500" "00384275" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385530" "00384305" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385559" "00384334" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386219" "00384990" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386220" "00384991" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386307" "00385078" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted next-generation sequencing/Sanger sequencing" "0000386311" "00385082" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386456" "00385227" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386457" "00385228" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386460" "00385231" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386461" "00385232" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386464" "00385235" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386680" "00385451" "1" "00006" "00006" "2021-10-12 17:12:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000386927" "00385698" "1" "04182" "04182" "2021-10-14 15:35:28" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000387179" "00385951" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "" "" "0000387180" "00385952" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "" "" "0000387181" "00385953" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "" "" "0000387182" "00385954" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "" "" "0000387921" "00386693" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388686" "00387460" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000389114" "00387883" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389268" "00388029" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG;arrayCGH;SEQ" "DNA" "blood" "" "0000389777" "00388535" "1" "00000" "03840" "2021-11-04 13:39:46" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000389778" "00388536" "1" "00000" "03840" "2021-11-04 13:39:46" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000389779" "00388537" "1" "00000" "03840" "2021-11-04 13:39:46" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000390333" "00389090" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390334" "00389091" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390472" "00389229" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000390500" "00389257" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390539" "00389296" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390570" "00389327" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390640" "00389397" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390641" "00389398" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390857" "00389614" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391404" "00390163" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391706" "00390465" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392789" "00391547" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392790" "00391548" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392791" "00391549" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000393515" "00392273" "1" "00000" "03840" "2021-11-22 09:44:22" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing" "0000394750" "00393502" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000395102" "00393854" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395604" "00394357" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395605" "00394358" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000396810" "00395572" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "whole exome sequencing" "0000396845" "00395607" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000396990" "00395751" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000396997" "00395758" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000420514" "00419210" "1" "01741" "01741" "2022-10-18 10:06:01" "" "" "SEQ-NG" "DNA" "" "" "0000420756" "00419452" "1" "04400" "04400" "2022-10-20 11:27:05" "" "" "SEQ-NG-I" "DNA" "fibroblasts" "WES" "0000421863" "00420554" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421884" "00420575" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000428218" "00426898" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000438224" "00436611" "1" "04552" "04552" "2023-09-30 00:02:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000449276" "00447699" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000453284" "00451680" "1" "03544" "03544" "2024-06-28 11:56:16" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000459289" "00457669" "1" "00006" "00006" "2024-11-15 18:06:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 117 "{{screeningid}}" "{{geneid}}" "0000034590" "ALMS1" "0000046563" "ALMS1" "0000046563" "DYSF" "0000050622" "ALMS1" "0000073325" "ALMS1" "0000073325" "DYSF" "0000081135" "ALMS1" "0000100502" "FAM161A" "0000156245" "ALMS1" "0000289376" "ALMS1" "0000309618" "ALMS1" "0000309619" "ALMS1" "0000310090" "ALMS1" "0000310091" "ALMS1" "0000310092" "ALMS1" "0000310093" "ALMS1" "0000325718" "POC1B" "0000326636" "ALMS1" "0000329506" "ALMS1" "0000330064" "RPE65" "0000332948" "ALMS1" "0000332949" "ALMS1" "0000332950" "ALMS1" "0000333507" "ALMS1" "0000334585" "NR2E3" "0000360038" "ALMS1" "0000360038" "BBS4" "0000360038" "BBS9" "0000360060" "ALMS1" "0000360150" "ALMS1" "0000363310" "ALMS1" "0000363311" "ALMS1" "0000363312" "ALMS1" "0000363313" "ALMS1" "0000363314" "ALMS1" "0000364149" "ALMS1" "0000364839" "ALMS1" "0000364857" "ALMS1" "0000364861" "ALMS1" "0000364892" "ALMS1" "0000364932" "ALMS1" "0000373732" "ALMS1" "0000373732" "LCA5" "0000373734" "ALMS1" "0000373735" "ALMS1" "0000373738" "ALMS1" "0000373739" "ALMS1" "0000373740" "ALMS1" "0000373742" "ALMS1" "0000374732" "ALMS1" "0000374744" "ALMS1" "0000375115" "ALMS1" "0000381012" "ALMS1" "0000382451" "ALMS1" "0000382453" "ALMS1" "0000383694" "ALMS1" "0000384376" "ALMS1" "0000384377" "ALMS1" "0000384633" "ALMS1" "0000385480" "ALMS1" "0000385486" "ALMS1" "0000385489" "ALMS1" "0000385500" "ALMS1" "0000385530" "ALMS1" "0000385559" "ALMS1" "0000386219" "ALMS1" "0000386220" "ALMS1" "0000386307" "ALMS1" "0000386311" "ALMS1" "0000386456" "ALMS1" "0000386457" "BBS1" "0000386460" "ALMS1" "0000386461" "ALMS1" "0000386464" "ALMS1" "0000386680" "TAB2" "0000387179" "ALMS1" "0000387180" "ALMS1" "0000387181" "ALMS1" "0000387182" "ALMS1" "0000387921" "ALMS1" "0000388686" "BBS1" "0000388686" "BBS10" "0000388686" "BBS12" "0000389114" "ALMS1" "0000389268" "ALMS1" "0000389777" "ALMS1" "0000389778" "ALMS1" "0000389779" "ALMS1" "0000390333" "ALMS1" "0000390334" "ALMS1" "0000390472" "ALMS1" "0000390500" "ALMS1" "0000390539" "ALMS1" "0000390570" "ALMS1" "0000390640" "ALMS1" "0000390641" "ALMS1" "0000390857" "ALMS1" "0000391404" "ALMS1" "0000391706" "ALMS1" "0000392789" "ALMS1" "0000392790" "ALMS1" "0000392791" "ALMS1" "0000393515" "ALMS1" "0000394750" "ALMS1" "0000395102" "ALMS1" "0000395604" "ALMS1" "0000395605" "ALMS1" "0000396810" "ALMS1" "0000396845" "ALMS1" "0000396990" "ALMS1" "0000396997" "ALMS1" "0000420514" "ALMS1" "0000420756" "ALMS1" "0000421863" "ALMS1" "0000421884" "ALMS1" "0000428218" "ALMS1" "0000438224" "ALMS1" ## 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 = 283 "{{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}}" "0000061694" "3" "90" "2" "73799946" "73799946" "subst" "0" "01263" "ALMS1_000027" "g.73799946G>T" "" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "" "c.10945G>T" "not in 400 control chromosomes" "Germline" "yes" "" "0" "" "" "g.73572819G>T" "" "pathogenic" "" "0000074348" "3" "90" "2" "73651598" "73651598" "subst" "0" "00006" "ALMS1_000281" "g.73651598C>T" "" "{PMID:Lazar 2015:26077327}; {DOI:Lazar 2015:10.1002/humu.22822}" "" "c.808C>T" "" "Germline" "yes" "" "0" "" "" "g.73424470C>T" "" "pathogenic" "" "0000079602" "11" "90" "2" "73675690" "73675690" "subst" "0.00156444" "00006" "ALMS1_000254" "g.73675690A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.73448563A>G" "" "pathogenic" "" "0000079696" "21" "90" "2" "73747141" "73747141" "subst" "0" "00006" "ALMS1_000255" "g.73747141A>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "c.9776A>C" "" "Germline" "" "" "0" "" "" "g.73520014A>C" "" "pathogenic" "" "0000116964" "3" "70" "2" "73651598" "73651598" "subst" "0" "01606" "ALMS1_000281" "g.73651598C>T" "" "{PMID:Lazar 2015:26077327}, {DOI:Lazar 2015:10.1002/humu.22822}" "" "c.808C>T" "" "Germline" "" "" "0" "" "" "g.73424470C>T" "" "likely pathogenic" "" "0000130221" "3" "70" "2" "73800292" "73800292" "subst" "0" "01758" "ALMS1_000256" "g.73800292C>A" "" "{PMID:Trujillano 2017:27848944}" "" "c.11291C>A" "" "Germline" "" "" "0" "" "" "g.73573165C>A" "" "likely pathogenic" "ACMG" "0000356893" "0" "90" "2" "73651989" "73651995" "del" "0" "01807" "ALMS1_000438" "g.73651989_73651995del" "" "" "" "1196_1202delCACAGGA" "" "Unknown" "" "" "0" "" "" "g.73424861_73424867del" "" "pathogenic" "" "0000356894" "0" "90" "2" "73679344" "73679344" "subst" "0" "01807" "ALMS1_000443" "g.73679344C>G" "" "" "" "c.5687C>G" "" "Unknown" "" "" "0" "" "" "g.73452217C>G" "" "pathogenic" "" "0000358167" "3" "90" "2" "73651598" "73651598" "subst" "0" "01243" "ALMS1_000281" "g.73651598C>T" "" "Sharon, submitted" "" "c.808C>T" "" "Germline" "" "" "0" "" "" "g.73424470C>T" "" "pathogenic" "" "0000435949" "21" "70" "2" "73680356" "73680359" "del" "0" "03100" "ALMS1_000444" "g.73680356_73680359del" "" "in press" "" "c.6705_6708del" "" "Germline" "" "" "0" "" "" "g.73453229_73453232del" "" "likely pathogenic" "" "0000438392" "1" "90" "2" "73676187" "73676187" "subst" "0" "01244" "ALMS1_000445" "g.73676187G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.73449060G>T" "" "pathogenic (recessive)" "" "0000438393" "2" "90" "2" "73677576" "73677576" "subst" "0" "01244" "ALMS1_000446" "g.73677576G>T" "" "" "" "c.3919G>T" "" "Germline" "" "" "0" "" "" "g.73450449G>T" "" "pathogenic (recessive)" "" "0000438627" "3" "90" "2" "73717247" "73717247" "subst" "1.62468E-5" "01244" "ALMS1_000435" "g.73717247C>T" "" "" "" "c.8158C>T" "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.73490120C>T" "" "pathogenic" "" "0000645305" "3" "70" "2" "73678397" "73678397" "subst" "0" "00006" "ALMS1_000610" "g.73678397C>G" "" "{PMID:Lee 2019:31607746}" "" "c.4746C>G" "" "Germline" "" "" "0" "" "" "g.73451270C>G" "{CV:000930568.1}" "likely pathogenic (dominant)" "" "0000650680" "1" "30" "2" "73675525" "73675525" "subst" "0.0168526" "03575" "ALMS1_000328" "g.73675525A>G" "17/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "c.1868A>G" "17 heterozygous, no homozygous; {DB:CLININrs41291187}" "Germline" "" "rs41291187" "0" "" "" "g.73448398A>G" "" "likely benign" "" "0000650681" "1" "70" "2" "73678796" "73678796" "subst" "4.06947E-6" "03575" "ALMS1_000611" "g.73678796T>G" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs772136379}" "Germline" "" "rs772136379" "0" "" "" "g.73451669T>G" "" "likely pathogenic" "" "0000650682" "1" "10" "2" "73679013" "73679013" "subst" "0.0148351" "03575" "ALMS1_000351" "g.73679013A>G" "100/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "c.5356A>G" "100 heterozygous; {DB:CLININrs45608038}" "Germline" "" "rs45608038" "0" "" "" "g.73451886A>G" "" "benign" "" "0000650683" "1" "10" "2" "73679956" "73679956" "subst" "0.0261478" "03575" "ALMS1_000359" "g.73679956C>T" "41/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "41 heterozygous, no homozygous; {DB:CLININrs28730854}" "Germline" "" "rs28730854" "0" "" "" "g.73452829C>T" "" "benign" "" "0000650684" "1" "50" "2" "73680481" "73680481" "subst" "0.000191801" "03575" "ALMS1_000613" "g.73680481G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200979896}" "Germline" "" "rs200979896" "0" "" "" "g.73453354G>A" "" "VUS" "" "0000650685" "1" "50" "2" "73717326" "73717326" "subst" "4.87888E-5" "03575" "ALMS1_000614" "g.73717326T>G" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "c.8237T>G" "3 heterozygous, no homozygous; {DB:CLININrs188857186}" "Germline" "" "rs188857186" "0" "" "" "g.73490199T>G" "" "VUS" "" "0000650686" "1" "50" "2" "73746979" "73746979" "subst" "0.00033335" "03575" "ALMS1_000615" "g.73746979C>T" "3/2782 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "c.9614C>T" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs201624771}" "Germline" "" "rs201624771" "0" "" "" "g.73519852C>T" "" "VUS" "" "0000650687" "1" "30" "2" "73761955" "73761955" "subst" "8.13041E-6" "03575" "ALMS1_000616" "g.73761955G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "c.9783G>A" "1 heterozygous, no homozygous; {DB:CLININrs757139660}" "Germline" "" "rs757139660" "0" "" "" "g.73534828G>A" "" "likely benign" "" "0000650688" "1" "10" "2" "73777400" "73777400" "subst" "0.00539209" "03575" "ALMS1_000437" "g.73777400A>G" "137/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "c.9911A>G" "137 heterozygous; {DB:CLININrs142022233}" "Germline" "" "rs142022233" "0" "" "" "g.73550273A>G" "" "benign" "" "0000653160" "1" "90" "2" "73680087" "73680087" "subst" "1.63795E-5" "03575" "ALMS1_000612" "g.73680087C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs770558150}" "Germline" "" "rs770558150" "0" "" "" "g.73452960C>T" "" "pathogenic" "" "0000669651" "3" "10" "2" "73679013" "73679013" "subst" "0.0148351" "03575" "ALMS1_000351" "g.73679013A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "c.5356A>G" "1 homozygous; {DB:CLININrs45608038}" "Germline" "" "rs45608038" "0" "" "" "g.73451886A>G" "" "benign" "" "0000669652" "3" "10" "2" "73777400" "73777400" "subst" "0.00539209" "03575" "ALMS1_000437" "g.73777400A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "c.9911A>G" "2 homozygous; {DB:CLININrs142022233}" "Germline" "" "rs142022233" "0" "" "" "g.73550273A>G" "" "benign" "" "0000684491" "1" "70" "2" "73613292" "73613292" "subst" "0" "00004" "ALMS1_000626" "g.73613292C>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.73386164C>A" "" "likely pathogenic" "" "0000684492" "1" "70" "2" "73680087" "73680087" "subst" "1.63795E-5" "00004" "ALMS1_000628" "g.73680087C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.73452960C>T" "" "likely pathogenic" "" "0000685001" "0" "90" "2" "73651598" "73651598" "subst" "0" "00004" "ALMS1_000281" "g.73651598C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.808C>T" "" "Germline" "" "" "0" "" "" "g.73424470C>T" "" "pathogenic" "ACMG" "0000685002" "0" "70" "2" "73678894" "73678894" "subst" "0" "00004" "ALMS1_000627" "g.73678894A>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "5243A>T" "" "Germline" "" "" "0" "" "" "g.73451767A>T" "" "likely pathogenic" "ACMG" "0000685003" "0" "70" "2" "73800554" "73800554" "subst" "0" "00004" "ALMS1_000629" "g.73800554A>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.11544+3A>T" "" "Germline" "" "" "0" "" "" "g.73573427A>T" "" "likely pathogenic" "ACMG" "0000685004" "0" "70" "2" "73828459" "73828459" "subst" "0" "00004" "ALMS1_000427" "g.73828459C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.12007C>T" "" "Germline" "" "" "0" "" "" "g.73601332C>T" "" "likely pathogenic" "ACMG" "0000709015" "0" "70" "2" "73613050" "73613051" "ins" "0" "01602" "ALMS1_000634" "g.73613050_73613051insTAG" "" "{PMID:Neubauer 2021:33895855}" "" "c.54_55insTAG" "" "Unknown" "" "" "0" "" "" "g.73385922_73385923insTAG" "" "likely pathogenic" "" "0000710228" "1" "50" "2" "73650057" "73650057" "subst" "0" "00006" "ALMS1_000635" "g.73650057C>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "716C>A Ala239Glu)" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.73422929C>A" "" "VUS" "ACMG" "0000710336" "2" "50" "2" "73718201" "73718201" "subst" "0" "00006" "ALMS1_000636" "g.73718201C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "9112T>C (Ser3038Pro)" "ACMG PM2, PM3" "Germline" "" "" "0" "" "" "g.73491074T>C" "" "VUS" "ACMG" "0000710804" "0" "30" "2" "73613319" "73613319" "subst" "3.02769E-5" "00006" "ALMS1_000637" "g.73613319A>G" "" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "" "A323G" "" "Germline" "" "" "0" "" "" "g.73386191A>G" "" "likely benign" "" "0000713629" "3" "90" "2" "73676608" "73676609" "ins" "0" "00000" "ALMS1_000638" "g.73676608_73676609insCTGGACTGCTATT" "" "{PMID:Carss 2017:28041643}" "" "2:73676607C>CCTGGACTGCTATT ENST00000264448.6:c.2958_2959insCTATTCTGGACTG (Thr987LeufsTer6)" "" "Germline" "" "" "0" "" "" "g.73449481_73449482insCTGGACTGCTATT" "" "pathogenic (recessive)" "" "0000714571" "1" "50" "2" "73777414" "73777414" "subst" "1.62637E-5" "00006" "ALMS1_000639" "g.73777414C>T" "" "{PMID:Katagiri 2017:29681726}" "" "c.9925C>T" "" "Germline" "" "" "0" "" "" "g.73550287C>T" "" "VUS" "" "0000714572" "2" "50" "2" "73826539" "73826539" "subst" "8.14724E-6" "00006" "ALMS1_000640" "g.73826539T>A" "" "{PMID:Katagiri 2017:29681726}" "" "c.11556T>A" "" "Germline" "" "" "0" "" "" "g.73599412T>A" "" "VUS" "" "0000730335" "3" "90" "2" "73677903" "73677903" "del" "0" "00000" "ALMS1_000665" "g.73677903del" "" "{PMID:Sanchez-Navarro 2018:29588463}" "" "c.4252del" "" "Germline" "" "" "0" "" "" "g.73450776del" "" "pathogenic (recessive)" "" "0000730336" "1" "90" "2" "73678128" "73678128" "subst" "0" "00000" "ALMS1_000666" "g.73678128G>T" "" "{PMID:Sanchez-Navarro 2018:29588463}" "" "c.4477G>T" "" "Germline" "" "" "0" "" "" "g.73451001G>T" "" "pathogenic (recessive)" "" "0000730337" "1" "90" "2" "73651598" "73651598" "subst" "0" "00000" "ALMS1_000281" "g.73651598C>T" "" "{PMID:Sanchez-Navarro 2018:29588463}" "" "c.808C>T" "" "Germline" "" "" "0" "" "" "g.73424470C>T" "" "pathogenic (recessive)" "" "0000730356" "2" "90" "2" "73682316" "73682317" "del" "0" "00000" "IGHMBP2_000003" "g.73682316_73682317del" "" "{PMID:Sanchez-Navarro 2018:29588463}" "" "c.7571_7572del" "" "Germline" "" "" "0" "" "" "g.73455189_73455190del" "" "pathogenic (recessive)" "" "0000730357" "2" "90" "2" "73826595" "73826596" "del" "0" "00000" "IGHMBP2_000003" "g.73826595_73826596del" "" "{PMID:Sanchez-Navarro 2018:29588463}" "" "c.11618_11619del" "" "Germline" "" "" "0" "" "" "g.73599468_73599469del" "" "pathogenic (recessive)" "" "0000731161" "1" "90" "2" "73675866" "73675866" "del" "0" "00000" "ALMS1_000699" "g.73675866del" "" "{PMID:Porto 2017:29186038}" "" "2215delC" "" "Germline" "" "" "0" "" "" "g.73448739del" "" "pathogenic (recessive)" "" "0000731181" "2" "90" "2" "73676710" "73676710" "dup" "0" "00000" "ALMS1_000700" "g.73676710dup" "" "{PMID:Porto 2017:29186038}" "" "3059dupA" "" "Germline" "" "" "0" "" "" "g.73449583dup" "" "pathogenic (recessive)" "" "0000732484" "0" "50" "2" "73678951" "73678951" "subst" "0.000154702" "00000" "ALMS1_000857" "g.73678951A>G" "" "{PMID:Costa 2017:28912962}" "" "5294A>G (Asn1765Ser)" "" "Germline" "" "" "0" "" "" "g.73451824A>G" "" "VUS" "" "0000735188" "3" "70" "2" "73678899" "73678899" "subst" "0.00194606" "00000" "ALMS1_000510" "g.73678899A>G" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}" "" "5242A>G (T1748A)" "" "Germline" "" "rs546111188" "0" "" "" "g.73451772A>G" "" "likely pathogenic" "" "0000759703" "11" "90" "2" "73617386" "73789908" "delins" "0" "00000" "ALMS1_000701" "g.73617386_73789908delinsCACTT" "" "{PMID:Lindstrand 2016:27486776}" "" "del exon16_17 / del exon2_15 73617393-73789869del" "172,476 bp deletion, 5 bp insertion" "Germline" "" "" "0" "" "" "g.73390258_73562781delinsCACTT" "" "pathogenic" "" "0000759738" "0" "90" "2" "73677807" "73677807" "dup" "0" "01164" "ALMS1_000702" "g.73677807dup" "" "PMID: 25706677, 25296579, 23188138, 28432734," "" "c.4156dup" "ACMG: Class 5 (PVS1, PM3, PS4_SUP, PM2_SUP)" "Germline" "yes" "" "0" "" "" "g.73450680dup" "{CV:000210127}" "pathogenic (recessive)" "ACMG" "0000759739" "0" "90" "2" "73680222" "73680225" "del" "0" "01164" "ALMS1_000518" "g.73680222_73680225del" "" "PMID: 11941370" "" "c.6571_6574del" "ACMG: PVS1, PM3, PM2_SUP" "Germline" "?" "" "0" "" "" "g.73453095_73453098del" "{CV:000434133}" "pathogenic (recessive)" "ACMG" "0000759848" "1" "70" "2" "73677553" "73677553" "subst" "8.13246E-6" "00000" "ALMS1_000760" "g.73677553C>A" "" "{PMID:Wang 2016:27422788}" "" "C3896A p.S1299X" "" "Germline" "" "" "0" "" "" "g.73450426C>A" "" "likely pathogenic" "" "0000759878" "2" "70" "2" "73678558" "73678561" "del" "0" "00000" "ALMS1_000703" "g.73678558_73678561del" "" "{PMID:Wang 2016:27422788}" "" "c.4907_4910del p.L1636fs" "" "Germline" "" "" "0" "" "" "g.73451431_73451434del" "" "likely pathogenic" "" "0000763478" "3" "70" "2" "73679956" "73679956" "subst" "2.04663E-5" "02404" "ALMS1_000704" "g.73679956C>A" "" "{PMID:Bahena 2021:34148116}" "" "c.6299C>A" "" "Germline" "yes" "" "0" "" "" "g.73452829C>A" "" "pathogenic (recessive)" "ACMG" "0000763480" "3" "70" "2" "73681128" "73681129" "del" "0" "02404" "ALMS1_000705" "g.73681128_73681129del" "" "{PMID:Bahena 2021:34148116}" "" "c.7471_7472del" "" "Germline" "yes" "" "0" "" "" "g.73454001_73454002del" "" "pathogenic (recessive)" "ACMG" "0000763482" "3" "90" "2" "73800417" "73800417" "subst" "1.22141E-5" "02404" "ALMS1_000604" "g.73800417C>T" "" "{PMID:Bahena 2021:34148116}" "" "c.11410C>T" "" "Germline" "?" "" "0" "" "" "g.73573290C>T" "" "pathogenic (recessive)" "ACMG" "0000763887" "3" "70" "2" "73675741" "73675741" "subst" "4.07418E-6" "00006" "ALMS1_000707" "g.73675741C>A" "" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "c.2090C>A" "" "Germline" "" "" "0" "" "" "g.73448614C>A" "" "likely pathogenic (recessive)" "" "0000763888" "1" "70" "2" "73651844" "73651844" "subst" "0" "00006" "ALMS1_000706" "g.73651844C>T" "" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "c.1054C>T" "" "Germline" "" "" "0" "" "" "g.73424716C>T" "" "likely pathogenic (recessive)" "" "0000763889" "3" "70" "2" "73675741" "73675741" "subst" "4.07418E-6" "00006" "ALMS1_000707" "g.73675741C>A" "" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "c.2090C>A" "" "Germline" "" "" "0" "" "" "g.73448614C>A" "" "likely pathogenic (recessive)" "" "0000763890" "1" "70" "2" "73678542" "73678542" "subst" "0" "00006" "ALMS1_000708" "g.73678542C>T" "" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "c.4891C>T" "" "Germline" "" "" "0" "" "" "g.73451415C>T" "" "likely pathogenic (recessive)" "" "0000763891" "1" "70" "2" "73678542" "73678542" "subst" "0" "00006" "ALMS1_000708" "g.73678542C>T" "" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "c.4891C>T" "" "Germline" "" "" "0" "" "" "g.73451415C>T" "" "likely pathogenic (recessive)" "" "0000763969" "2" "70" "2" "73678568" "73678571" "del" "0" "00006" "ALMS1_000709" "g.73678568_73678571del" "" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "c.4917_4920del" "" "Germline" "" "" "0" "" "" "g.73451441_73451444del" "" "likely pathogenic (recessive)" "" "0000763970" "2" "70" "2" "73679820" "73679821" "dup" "0" "00006" "ALMS1_000711" "g.73679820_73679821dup" "" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "c.6169_6170dup" "" "Germline" "" "" "0" "" "" "g.73452693_73452694dup" "" "likely pathogenic (recessive)" "" "0000763971" "2" "70" "2" "73679282" "73679282" "dup" "0" "00006" "ALMS1_000710" "g.73679282dup" "" "{PMID:Xu 2016:24938718}, {PMID:Huang 2016:26992781}" "" "c.5631dup" "" "Germline" "" "" "0" "" "" "g.73452155dup" "" "likely pathogenic (recessive)" "" "0000764911" "3" "70" "2" "73651836" "73651836" "subst" "4.06861E-6" "00000" "ALMS1_000858" "g.73651836G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "1043G>A (p.W348*)" "" "Germline" "" "" "0" "" "" "g.73424708G>A" "" "likely pathogenic (recessive)" "" "0000765781" "0" "70" "2" "73828320" "73828320" "subst" "0" "00000" "ALMS1_000716" "g.73828320A>T" "" "{PMID:Patel 2016:26355662}" "" "c.11876-2A>T" "" "Germline" "" "" "0" "" "" "g.73601193A>T" "" "likely pathogenic" "" "0000765799" "0" "70" "2" "73651639" "73651639" "dup" "0" "00000" "ALMS1_000713" "g.73651639dup" "" "{PMID:Patel 2016:26355662}" "" "c.849dup" "" "Germline" "" "" "0" "" "" "g.73424511dup" "" "likely pathogenic" "" "0000765803" "0" "70" "2" "73676380" "73676380" "subst" "0" "00000" "ALMS1_000715" "g.73676380C>G" "" "{PMID:Patel 2016:26355662}" "" "c.2729C>G" "" "Germline" "" "" "0" "" "" "g.73449253C>G" "" "likely pathogenic" "" "0000765834" "0" "70" "2" "73650102" "73650102" "subst" "0" "00000" "ALMS1_000712" "g.73650102G>A" "" "{PMID:Patel 2016:26355662}" "" "c.767G>A" "" "Germline" "" "" "0" "" "" "g.73422974G>A" "" "likely pathogenic" "" "0000765874" "0" "70" "2" "73675325" "73675325" "del" "0" "00000" "ALMS1_000714" "g.73675325del" "" "{PMID:Patel 2016:26355662}" "" "c.1674del" "" "Germline" "" "" "0" "" "" "g.73448198del" "" "likely pathogenic" "" "0000783883" "3" "70" "2" "73800117" "73800135" "del" "1.62852E-5" "00000" "ALMS1_000793" "g.73800117_73800135del" "" "{PMID:Wang 2015:26047050}" "" "11110_11128del (R3704LfsX11)" "" "Germline" "" "" "0" "" "" "g.73572990_73573008del" "" "likely pathogenic" "" "0000783884" "3" "70" "2" "73675741" "73675741" "subst" "4.07418E-6" "00000" "ALMS1_000707" "g.73675741C>A" "" "{PMID:Wang 2015:26047050}" "" "2084C>A (S695X)" "" "Germline" "" "" "0" "" "" "g.73448614C>A" "" "likely pathogenic" "" "0000783887" "1" "70" "2" "73675721" "73675721" "del" "0" "00000" "ALMS1_000859" "g.73675721del" "" "{PMID:Wang 2015:26047050}" "" "2064del (D689IfsX4)" "" "Germline" "" "" "0" "" "" "g.73448594del" "" "likely pathogenic" "" "0000783888" "1" "70" "2" "73651598" "73651598" "subst" "0" "00000" "ALMS1_000281" "g.73651598C>T" "" "{PMID:Wang 2015:26047050}" "" "808C>T (R269X)" "" "Germline" "" "" "0" "" "" "g.73424470C>T" "" "likely pathogenic" "" "0000783889" "1" "70" "2" "73679069" "73679069" "del" "0" "00000" "ALMS1_000860" "g.73679069del" "" "{PMID:Wang 2015:26047050}" "" "5411del (Y1805TfsX23)" "" "Germline" "" "" "0" "" "" "g.73451942del" "" "likely pathogenic" "" "0000783891" "1" "50" "2" "73681053" "73681053" "subst" "8.13862E-6" "00000" "ALMS1_000861" "g.73681053G>T" "" "{PMID:Wang 2015:26047050}" "" "7396G>T (E2466X)" "" "Germline" "" "" "0" "" "" "g.73453926G>T" "" "VUS" "" "0000783898" "3" "50" "2" "73786123" "73786123" "subst" "0.000508436" "00000" "ALMS1_000819" "g.73786123A>G" "" "{PMID:Wang 2015:26047050}" "" "10235A>G (E3412G)" "" "Germline" "" "" "0" "" "" "g.73558996A>G" "" "VUS" "" "0000783974" "2" "70" "2" "73718531" "73718534" "dup" "0" "00000" "ALMS1_000862" "g.73718531_73718534dup" "" "{PMID:Wang 2015:26047050}" "" "9441_9442insAATA (S3149KfsX2)" "" "Germline" "" "" "0" "" "" "g.73491404_73491407dup" "" "likely pathogenic" "" "0000783975" "2" "70" "2" "73676838" "73676838" "subst" "0" "00000" "ALMS1_000863" "g.73676838C>T" "" "{PMID:Wang 2015:26047050}" "" "3181C>T (Q1061X)" "" "Germline" "" "" "0" "" "" "g.73449711C>T" "" "likely pathogenic" "" "0000783976" "2" "70" "2" "73679352" "73679355" "del" "0" "00000" "ALMS1_000864" "g.73679352_73679355del" "" "{PMID:Wang 2015:26047050}" "" "5692_5695del (E1899RfsX18)" "" "Germline" "" "" "0" "" "" "g.73452225_73452228del" "" "likely pathogenic" "" "0000783977" "2" "50" "2" "73747008" "73747008" "subst" "0" "00000" "ALMS1_000865" "g.73747008T>A" "" "{PMID:Wang 2015:26047050}" "" "9643T>A (S3215T)" "" "Germline" "" "" "0" "" "" "g.73519881T>A" "" "VUS" "" "0000784602" "0" "50" "2" "73646246" "73646246" "subst" "0.000146589" "00000" "ALMS1_000866" "g.73646246T>G" "2/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.451-5T>G" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.73419118T>G" "" "VUS" "" "0000784603" "0" "50" "2" "73747095" "73747095" "subst" "0.000142205" "00000" "ALMS1_000720" "g.73747095G>A" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.9730G>A (A3244T)" "3/1266 control chromosomes" "Germline" "" "rs200432874" "0" "" "" "g.73519968G>A" "" "VUS" "" "0000784606" "0" "50" "2" "73679252" "73679252" "dup" "0" "00000" "ALMS1_000867" "NC_000002.11:g.73679252dup" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.5601dupA (D1868Rfs*4)" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.73452125dup" "" "VUS" "" "0000784607" "0" "50" "2" "73718358" "73718358" "subst" "8.12797E-6" "00000" "ALMS1_000868" "g.73718358C>G" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.9269C>G (S3090C)" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.73491231C>G" "" "VUS" "" "0000784608" "0" "50" "2" "73676070" "73676070" "subst" "0.00165303" "00000" "ALMS1_000656" "g.73676070G>C" "8/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.2413G>C (V805L)" "30/1266 control chromosomes" "Germline" "" "rs138921247" "0" "" "" "g.73448943G>C" "" "VUS" "" "0000784609" "0" "50" "2" "73677983" "73677983" "subst" "0.00059795" "00000" "ALMS1_000498" "g.73677983G>T" "2/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.4326G>T (L1442F)" "11/1266 control chromosomes" "Germline" "" "rs192499639" "0" "" "" "g.73450856G>T" "" "VUS" "" "0000784611" "0" "50" "2" "73676070" "73676070" "subst" "0.00165303" "00000" "ALMS1_000656" "g.73676070G>C" "8/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.2413G>C (V805L)" "30/1266 control chromosomes" "Germline" "" "rs138921247" "0" "" "" "g.73448943G>C" "" "VUS" "" "0000784612" "0" "50" "2" "73678539" "73678539" "subst" "0.000440464" "00000" "ALMS1_000590" "g.73678539C>T" "2/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.4882C>T (R1628W)" "1/1266 control chromosomes" "Germline" "" "rs201874722" "0" "" "" "g.73451412C>T" "" "VUS" "" "0000784647" "0" "50" "2" "73677983" "73677983" "subst" "0.00059795" "00000" "ALMS1_000498" "g.73677983G>T" "2/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.4326G>T (L1442F)" "11/1266 control chromosomes" "Germline" "" "rs192499639" "0" "" "" "g.73450856G>T" "" "VUS" "" "0000784648" "0" "50" "2" "73680687" "73680687" "subst" "1.62881E-5" "00000" "ALMS1_000869" "g.73680687C>T" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.7030C>T (R2344W)" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.73453560C>T" "" "VUS" "" "0000784654" "0" "50" "2" "73676070" "73676070" "subst" "0.00165303" "00000" "ALMS1_000656" "g.73676070G>C" "8/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.2413G>C (V805L)" "30/1266 control chromosomes" "Germline" "" "rs138921247" "0" "" "" "g.73448943G>C" "" "VUS" "" "0000784655" "0" "50" "2" "73678539" "73678539" "subst" "0.000440464" "00000" "ALMS1_000590" "g.73678539C>T" "2/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "c.4882C>T (R1628W)" "1/1266 control chromosomes" "Germline" "" "rs201874722" "0" "" "" "g.73451412C>T" "" "VUS" "" "0000785557" "1" "90" "2" "73677310" "73677310" "subst" "0" "00000" "ALMS1_000870" "g.73677310C>G" "" "{PMID:Liu 2015:25611614}" "" "3653C>G" "" "Germline" "" "" "0" "" "" "g.73450183C>G" "" "pathogenic (recessive)" "" "0000785569" "0" "50" "2" "73777460" "73777460" "subst" "4.06587E-6" "00000" "ALMS1_000717" "g.73777460C>T" "" "{PMID:Liu 2015:25611614}" "" "c.9977C>T" "" "Germline" "no" "" "0" "" "" "g.73550333C>T" "" "VUS" "" "0000785581" "2" "90" "2" "73678256" "73678256" "subst" "0" "00000" "ALMS1_000871" "g.73678256C>A" "" "{PMID:Liu 2015:25611614}" "" "4599C>A" "" "Germline" "" "" "0" "" "" "g.73451129C>A" "" "pathogenic (recessive)" "" "0000786410" "1" "90" "2" "73651590" "73651590" "subst" "0" "00000" "ALMS1_000872" "g.73651590G>A" "" "{PMID:Consugar 2015:25412400}" "" "797G>A (Trp266*)" "" "Germline" "yes" "" "0" "" "" "g.73424462G>A" "" "pathogenic (recessive)" "" "0000786477" "2" "90" "2" "73677553" "73677553" "subst" "8.13246E-6" "00000" "ALMS1_000760" "g.73677553C>A" "" "{PMID:Consugar 2015:25412400}" "" "3896C>A (Ser1299*)" "" "Germline" "yes" "" "0" "" "" "g.73450426C>A" "" "pathogenic (recessive)" "" "0000788370" "0" "50" "2" "73747095" "73747095" "subst" "0.000142205" "00000" "ALMS1_000720" "g.73747095G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G9730A" "" "Germline" "" "rs200432874" "0" "" "" "g.73519968G>A" "" "VUS" "" "0000788428" "0" "50" "2" "73679482" "73679482" "subst" "0.00019951" "00000" "ALMS1_000718" "g.73679482G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G5825A" "" "Germline" "" "rs146669152" "0" "" "" "g.73452355G>A" "" "VUS" "" "0000788445" "0" "50" "2" "73679482" "73679482" "subst" "0.00019951" "00000" "ALMS1_000718" "g.73679482G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G5825A" "" "Germline" "" "rs146669152" "0" "" "" "g.73452355G>A" "" "VUS" "" "0000788515" "0" "50" "2" "73680229" "73680229" "subst" "8.14896E-6" "00000" "ALMS1_000719" "g.73680229G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G6572A" "" "Germline" "" "rs193286818" "0" "" "" "g.73453102G>A" "" "VUS" "" "0000794281" "11" "90" "2" "73718237" "73718238" "del" "0" "00000" "ALMS1_000723" "g.73718237_73718238del" "" "{PMID:Wang 2018:30029497}" "" "NM_015120.4:c.9154_9155delCT, NP_055935.4:p.(Cys3053SerfsTer9), NC_000002.11:g.73718237_73718238delCT" "" "Germline" "yes" "" "0" "" "" "g.73491110_73491111del" "" "pathogenic" "ACMG" "0000794282" "21" "90" "2" "73799826" "73799826" "subst" "0" "00000" "ALMS1_000724" "g.73799826C>T" "" "{PMID:Wang 2018:30029497}" "" "NM_015120.4:c.10825C>T, NP_055935.4:p.(Arg3609Ter), NC_000002.11:g.73799826C>T" "" "Germline" "yes" "" "0" "" "" "g.73572699C>T" "" "pathogenic" "ACMG" "0000794726" "3" "90" "2" "73679715" "73679715" "subst" "0" "00000" "ALMS1_000721" "g.73679715C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_015120.4:c.6064C>T; p.(Gln2022*)" "" "Germline" "yes" "" "0" "" "" "g.73452588C>T" "" "pathogenic (recessive)" "ACMG" "0000794730" "3" "90" "2" "73717865" "73717865" "subst" "2.03102E-5" "00000" "ALMS1_000722" "g.73717865C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_015120.4:c.8776C>G;p.(Arg2926*)" "error in annotation: c.8776C>T is a known mutation causing p.(Arg2926*) whereas c.8776C>G would cause p.(Arg2926Gly). NM_015120.4 mentioned here does not agree with its reference sequence (Arginine is in position Arg2928 in this transcript, encoded by codons 8782-8784). Instead, it matches ENST00000264448.6, ensembl transcript without NM number." "Germline" "yes" "" "0" "" "" "g.73490738C>T" "" "pathogenic (recessive)" "ACMG" "0000794738" "3" "90" "2" "73828320" "73828320" "subst" "0" "00000" "ALMS1_000716" "g.73828320A>T" "" "{PMID:Patel 2018:30054919}" "" "NM_015120.4:c.11870-2A>T" "error in annotation: c.11870-2A>T is a known mutation, which should be reported as NM_015120.4(ALMS1):c.11876-2A>T. NM_015120.4 mentioned here does not agree with its reference sequence. Instead, it matches ENST00000264448.6, ensembl transcript without NM number." "Germline" "yes" "rs786205527" "0" "" "" "g.73601193A>T" "RCV000171296.1" "pathogenic (recessive)" "ACMG" "0000796275" "0" "90" "2" "73676653" "73676653" "subst" "0" "00000" "ALMS1_000725" "g.73676653C>G" "" "{PMID:Wang-2013:23847139}" "" "c.2996C>G" "" "Unknown" "" "" "0" "" "" "g.73449526C>G" "" "pathogenic" "" "0000796276" "0" "90" "2" "73800417" "73800417" "subst" "1.22141E-5" "00000" "ALMS1_000604" "g.73800417C>T" "" "{PMID:Wang-2013:23847139}" "" "c.11410C>T" "" "Unknown" "" "" "0" "" "" "g.73573290C>T" "" "pathogenic" "" "0000796278" "0" "90" "2" "73747129" "73747129" "subst" "0.000524083" "00000" "ALMS1_000726" "g.73747129C>G" "" "{PMID:Wang-2013:23847139}" "" "c.9764C>G" "" "Unknown" "" "" "0" "" "" "g.73520002C>G" "" "pathogenic" "" "0000797931" "0" "70" "2" "73677801" "73677801" "dup" "0" "00000" "ALMS1_000702" "g.73677801dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "ALMS1 c.4150dup, p.(Thr1384Asnfs*15)" "different transcript: single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.73450674dup" "" "likely pathogenic" "ACMG" "0000810996" "3" "70" "2" "73800121" "73800121" "subst" "0.00136442" "00000" "ALMS1_000559" "g.73800121C>G" "" "{PMID:Sathya Priya-2015:24400638}" "" "11120C>G (S3707C)" "" "Germline" "yes" "" "0" "" "" "g.73572994C>G" "" "likely pathogenic" "" "0000810997" "3" "70" "2" "73799886" "73799886" "subst" "4.06828E-6" "00000" "ALMS1_000874" "g.73799886C>T" "" "{PMID:Sathya Priya-2015:24400638}" "" "10885C>T (R3629*)" "" "Germline" "yes" "" "0" "" "" "g.73572759C>T" "" "likely pathogenic" "" "0000811391" "3" "70" "2" "73828320" "73828320" "subst" "0" "00000" "ALMS1_000716" "g.73828320A>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.11876-2A>T (p.?), Allele 2 c.11876-2A>T (p.?)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.73601193A>T" "" "likely pathogenic" "" "0000812543" "0" "70" "2" "73681087" "73681087" "subst" "8.15454E-6" "00000" "ALMS1_000754" "g.73681087C>G" "" "{PMID:Wang 2019:31106028}" "" "c.7436C>G, p.(Ser2479*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73453960C>G" "" "likely pathogenic" "" "0000812544" "0" "70" "2" "73679956" "73679956" "subst" "2.04663E-5" "00000" "ALMS1_000704" "g.73679956C>A" "" "{PMID:Wang 2019:31106028}" "" "c.6305C>A, p.(Ser2102*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73452829C>A" "" "likely pathogenic" "" "0000812550" "0" "70" "2" "73678401" "73678401" "subst" "0" "00000" "ALMS1_000749" "g.73678401C>T" "" "{PMID:Wang 2019:31106028}" "" "c.4750C>T, p.(Gln1584*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73451274C>T" "" "likely pathogenic" "" "0000812551" "0" "90" "2" "73717947" "73717947" "dup" "0" "00000" "ALMS1_000756" "g.73717947dup" "" "{PMID:Wang 2019:31106028}" "" "c.8864dup, p.(Asp2955Glufs*14)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73490820dup" "" "pathogenic" "" "0000812554" "0" "90" "2" "73679817" "73679818" "dup" "0" "00000" "ALMS1_000752" "g.73679817_73679818dup" "" "{PMID:Wang 2019:31106028}" "" "c.6166_67dup, p.(Leu2057Phefs*17)" "error in annotation: c.6166_67dup instead of c.6166_6167dup, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73452690_73452691dup" "" "pathogenic" "" "0000812555" "0" "70" "2" "73678542" "73678542" "subst" "0" "00000" "ALMS1_000708" "g.73678542C>T" "" "{PMID:Wang 2019:31106028}" "" "c.4891C>T, p.(Gln1631*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73451415C>T" "" "likely pathogenic" "" "0000812568" "0" "90" "2" "73682385" "73682386" "del" "0" "00000" "ALMS1_000755" "g.73682385_73682386del" "" "{PMID:Wang 2019:31106028}" "" "c.7640_7641del, p.(Glu2547Valfs*9)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73455258_73455259del" "" "pathogenic" "" "0000812569" "0" "70" "2" "73680435" "73680435" "subst" "0" "00000" "ALMS1_000753" "g.73680435G>T" "" "{PMID:Wang 2019:31106028}" "" "c.6778G>T, p.(Glu2262*)" "error in annotation c.6778G>T instead of c.6784G>T, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73453308G>T" "" "likely pathogenic" "" "0000812608" "0" "90" "2" "73679497" "73679497" "del" "0" "00000" "ALMS1_000750" "g.73679497del" "" "{PMID:Wang 2019:31106028}" "" "c.5846del, p.(Ser1949Metfs*18)" "single heterozygous variant in a recessive gene" "Germline" "?" "" "0" "" "" "g.73452370del" "" "pathogenic" "" "0000812642" "0" "90" "2" "73678558" "73678561" "del" "0" "00000" "ALMS1_000703" "g.73678558_73678561del" "" "{PMID:Wang 2019:31106028}" "" "c.4907_4910del, p.(Ser1636Ilefs*2)" "compound heterozygous" "De novo" "yes" "" "0" "" "" "g.73451431_73451434del" "" "pathogenic" "" "0000812643" "0" "90" "2" "73679812" "73679812" "dup" "0" "00000" "ALMS1_000751" "g.73679812dup" "" "{PMID:Wang 2019:31106028}" "" "c.6161dup, p.(Pro2055Alafs*12)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73452685dup" "" "pathogenic" "" "0000813626" "1" "90" "2" "73676645" "73676646" "del" "0" "00000" "ALMS1_000758" "g.73676645_73676646del" "" "{PMID:Xu 2020:31630094}" "" "ALMS1 NM_015120: g.63760_63761delAG, c.2988_2989delAG, p.V997Tfs*8" "different transcript: ENST00000264448.6(ALMS1):c.2988_2989del" "Germline" "yes" "" "0" "" "" "g.73449518_73449519del" "" "pathogenic" "ACMG" "0000813627" "1" "90" "2" "73679973" "73679973" "subst" "0" "00000" "ALMS1_000762" "g.73679973C>T" "" "{PMID:Xu 2020:31630094}" "" "ALMS1 NM_015120: g.67088C>T, c.6316C>T, p.Q2106X" "different transcript: ENST00000264448.6(ALMS1):c.6316C>T" "Germline" "yes" "" "0" "" "" "g.73452846C>T" "" "pathogenic" "ACMG" "0000813714" "1" "90" "2" "73682423" "73682423" "subst" "0" "00000" "ALMS1_000763" "g.73682423G>T" "" "{PMID:Xu 2020:31630094}" "" "ALMS1 NM_015120: g.69538G>T, c.7671+1G>T" "different transcript: ENST00000264448.6(ALMS1):c.7671+1G>T" "Germline" "yes" "" "0" "" "" "g.73455296G>T" "" "pathogenic" "ACMG" "0000813718" "1" "90" "2" "73799826" "73799826" "subst" "0" "00000" "ALMS1_000724" "g.73799826C>T" "" "{PMID:Xu 2020:31630094}" "" "ALMS1 NM_015120: g.186941C>T, c.10819C>T, p.R3607X" "different transcript: ENST00000264448.6(ALMS1):c.10819C>T" "Germline" "yes" "" "0" "" "" "g.73572699C>T" "" "pathogenic" "ACMG" "0000813733" "2" "90" "2" "73718624" "73718624" "subst" "0" "00000" "ALMS1_000765" "g.73718624C>T" "" "{PMID:Xu 2020:31630094}" "" "ALMS1 NM_015120: g.105739C>T, c.9535C>T, p.R3179X" "different transcript: ENST00000264448.6(ALMS1):c.9535C>T" "Germline" "yes" "" "0" "" "" "g.73491497C>T" "" "pathogenic" "ACMG" "0000813734" "2" "90" "2" "73678299" "73678315" "del" "0" "00000" "ALMS1_000761" "g.73678299_73678315del" "" "{PMID:Xu 2020:31630094}" "" "ALMS1 NM_015120: g.65413_65429delCAGAGTTTCTTCTGCTC, c.4641_4657delCAGAGTTTCTGCTC, p.R1548Wfs*4" "different transcript: ENST00000264448.6(ALMS1):c.4642_4658del" "Germline" "yes" "" "0" "" "" "g.73451172_73451188del" "" "pathogenic" "ACMG" "0000813781" "2" "90" "2" "73677553" "73677553" "subst" "8.13246E-6" "00000" "ALMS1_000760" "g.73677553C>A" "" "{PMID:Xu 2020:31630094}" "" "ALMS1 NM_015120: g.64668C>A, c.3896C>A, p.S1299X" "different transcript: ENST00000264448.6(ALMS1):c.3896C>A" "Germline" "yes" "" "0" "" "" "g.73450426C>A" "" "pathogenic" "ACMG" "0000813783" "2" "90" "2" "73799469" "73799469" "del" "0" "00000" "ALMS1_000766" "g.73799469del" "" "{PMID:Xu 2020:31630094}" "" "ALMS1 NM_015120: g.186584delC, c.10462delC, p. H3488Tfs*19" "different transcript: ENST00000264448.6(ALMS1):c.10462del" "Germline" "yes" "" "0" "" "" "g.73572342del" "" "pathogenic" "ACMG" "0000813979" "3" "90" "2" "73676997" "73676997" "del" "0" "00000" "ALMS1_000759" "g.73676997del" "" "{PMID:Redin-2012:22773737}" "" "c.[3340del]" "" "Germline" "" "" "0" "" "" "g.73449870del" "" "pathogenic" "" "0000813982" "0" "90" "2" "73679956" "73679956" "subst" "0.0261478" "00000" "ALMS1_000359" "g.73679956C>T" "" "{PMID:Redin-2012:22773737}" "" "p.[S2102L]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.73452829C>T" "" "pathogenic" "" "0000813985" "3" "50" "2" "73717119" "73717119" "subst" "0" "00000" "ALMS1_000764" "g.73717119C>T" "" "{PMID:Redin-2012:22773737}" "" "8036C>T" "" "Germline" "" "" "0" "" "" "g.73489992C>T" "" "VUS" "" "0000813989" "3" "90" "2" "73799886" "73799886" "subst" "4.06828E-6" "00000" "ALMS1_000874" "g.73799886C>T" "" "{PMID:Redin-2012:22773737}" "" "10885C>T" "" "Germline" "yes" "" "0" "" "" "g.73572759C>T" "" "pathogenic (recessive)" "" "0000813996" "3" "90" "2" "73675381" "73675381" "subst" "4.07053E-6" "00000" "ALMS1_000757" "g.73675381C>G" "" "{PMID:Redin-2012:22773737}" "" "1730C>G" "" "Germline" "yes" "" "0" "" "" "g.73448254C>G" "" "pathogenic (recessive)" "" "0000814495" "0" "50" "2" "73613071" "73613073" "dup" "0" "00006" "ALMS1_000284" "g.73613071_73613073dup" "" "" "" "36_44delinsGGAGGAGGAGGA" "" "De novo" "" "" "0" "" "" "g.73385943_73385945dup" "" "VUS" "" "0000814819" "0" "90" "2" "73680330" "73680330" "subst" "0" "04182" "ALMS1_000767" "g.73680330C>T" "" "" "" "c.6673C>T" "" "Germline" "" "" "0" "" "" "g.73453203C>T" "" "pathogenic" "ACMG" "0000815058" "3" "90" "2" "73718136" "73718136" "del" "0" "00000" "ALMS1_000769" "g.73718136del" "" "{PMID:Aliferis 2012:22004009}" "" "c.9046delA/c.9046delA" "" "Germline" "" "rs28933395" "0" "" "" "g.73491009del" "" "pathogenic" "" "0000815059" "3" "90" "2" "73800317" "73800320" "del" "0" "00000" "ALMS1_000770" "g.73800317_73800320delAGAG" "" "{PMID:Aliferis 2012:22004009}" "" "c.11310delAGAG/c.11310delAGAG" "" "Germline" "" "" "0" "" "" "g.73573190_73573193del" "" "pathogenic" "" "0000815060" "3" "90" "2" "73675950" "73675950" "subst" "0" "00000" "ALMS1_000873" "g.73675950C>T" "" "{PMID:Aliferis 2012:22004009}" "" "2293C>T" "" "Germline" "" "" "0" "" "" "g.73448823C>T" "" "pathogenic (recessive)" "" "0000815061" "3" "90" "2" "73680480" "73680481" "ins" "0" "00000" "ALMS1_000768" "g.73680480_73680481insA" "" "{PMID:Aliferis 2012:22004009}" "" "c.6823insA/c.6823insA" "" "Germline" "" "" "0" "" "" "g.73453353_73453354insA" "" "pathogenic" "" "0000816079" "0" "70" "2" "73826628" "73826629" "ins" "1.22142E-5" "00000" "ALMS1_000772" "g.73826628_73826629insGTTA" "" "{PMID:Zampaglione 2020:32037395}" "" "ALMS1 c.11645_11646insGTTA, p.Asn3883LeufsTer9" "different transcript, ENST00000264448.6(ALMS1):c.11645_11646insGTTA, p.(Asn3883Leufs*9), onflicting in silico model predictions, heterozygous" "Unknown" "?" "" "0" "" "" "g.73599501_73599502insGTTA" "" "likely pathogenic" "" "0000816410" "0" "70" "2" "73651626" "73651627" "del" "0" "00000" "ALMS1_000771" "g.73651626_73651627del" "" "{PMID:Zampaglione 2020:32037395}" "" "c.834_835delAT, p.Phe278SerfsTer16" "different transcript, ENST00000264448.6(ALMS1):c.833_834del, p.(Phe278Serfs*16), heterozygous" "Unknown" "?" "" "0" "" "" "g.73424498_73424499del" "" "likely pathogenic" "" "0000817415" "0" "70" "2" "55955604" "55955604" "subst" "0" "00000" "ALMS1_000875" "g.55955604G>A" "" "{PMID:Castro Sanchez 2015:26082521}, {PMID:Alvarez-Satta 2017:28502102}" "" "p.(His3882Tyr)" "expression cloning mini-gene splicing assay shows no effect on splicing" "Germline" "" "" "0" "" "" "g.54195844G>A" "" "likely pathogenic" "" "0000817907" "3" "90" "2" "73679956" "73679956" "subst" "2.04663E-5" "00006" "ALMS1_000704" "g.73679956C>A" "" "{PMID:Hu 2019:29302074}" "" "c.6299C>A" "" "Germline" "" "" "0" "" "" "g.73452829C>A" "" "pathogenic (recessive)" "ACMG" "0000818187" "0" "90" "2" "73676473" "73676473" "subst" "2.03907E-5" "00000" "ALMS1_000774" "g.73676473T>A" "" "{PMID:Wang 2016:27788217}" "" "c.2816T>A(p.L939*)" "" "Germline" "" "" "0" "" "" "g.73449346T>A" "" "pathogenic" "" "0000818196" "0" "90" "2" "73717865" "73717865" "subst" "2.03102E-5" "00000" "ALMS1_000722" "g.73717865C>T" "" "{PMID:Wang 2016:27788217}" "" "c.8776C>T(p.R2926*)" "" "Germline" "" "" "0" "" "" "g.73490738C>T" "" "pathogenic" "" "0000819021" "11" "70" "2" "73676412" "73676412" "subst" "0" "00000" "ALMS1_000773" "g.73676412C>T" "" "{PMID:Hirano 2020:32451492}" "" "ALMS1 p.Q920X, p.R2928X" "different transcript NM_001378454.1(ALMS1):c.2758C>T, p.Q920X" "Germline" "yes" "" "0" "" "" "g.73449285C>T" "" "likely pathogenic" "" "0000819022" "3" "70" "2" "73679802" "73679802" "subst" "0" "00000" "ALMS1_000722" "g.73679802C>T" "" "{PMID:Hirano 2020:32451492}" "" "ALMS1 p.Q2051X homo" "" "Germline" "?" "" "0" "" "" "g.73452675C>T" "" "likely pathogenic" "" "0000819023" "3" "70" "2" "73717865" "73717865" "subst" "2.03102E-5" "00000" "ALMS1_000722" "g.73717865C>T" "" "{PMID:Hirano 2020:32451492}" "" "ALMS1 p.Q2051X homo" "" "Germline" "?" "" "0" "" "" "g.73490738C>T" "" "likely pathogenic" "" "0000819033" "21" "70" "2" "73679802" "73679802" "subst" "0" "00000" "ALMS1_000722" "g.73679802C>T" "" "{PMID:Hirano 2020:32451492}" "" "ALMS1 p.Q920X, p.R2928X" "" "Germline" "yes" "" "0" "" "" "g.73452675C>T" "" "likely pathogenic" "" "0000819678" "1" "70" "2" "73651757" "73651757" "subst" "4.06957E-6" "00000" "ALMS1_000776" "g.73651757G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.967G>T/p.E323*, variant 2: c.5145T>G/p.Y1715*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.73424629G>T" "" "likely pathogenic" "" "0000819679" "1" "70" "2" "73651757" "73651757" "subst" "4.06957E-6" "00000" "ALMS1_000776" "g.73651757G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.967G>T/p.E323*, variant 2: c.5145T>G/p.Y1715*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.73424629G>T" "" "likely pathogenic" "" "0000819817" "1" "70" "2" "73717865" "73717865" "subst" "2.03102E-5" "00000" "ALMS1_000722" "g.73717865C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.8782C>T/p.R2928*, variant 2: c.11385del/p.F3795Lfs*38" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73490738C>T" "" "likely pathogenic" "" "0000819845" "1" "70" "2" "73675968" "73675969" "del" "0" "00000" "ALMS1_000434" "g.73675968_73675969del" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.2317_2318del/p.I773Ffs*13, variant 2: c.2311_2312del/p.I771Ffs*13" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.73448841_73448842del" "" "likely pathogenic" "" "0000819884" "1" "70" "2" "73680786" "73680786" "subst" "0" "00000" "ALMS1_000781" "g.73680786C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.7135C>T/p.Q2379*, variant 2: c.7135C>T/p.Q2379*" "error in annotation, protein change should be p.(Leu2379Phe) and not p.(Gln2379*), might be a different transcript, solved, homozygous" "Unknown" "?" "" "0" "" "" "g.73453659C>T" "" "likely pathogenic" "" "0000819915" "1" "70" "2" "73675548" "73675548" "dup" "0" "00000" "ALMS1_000778" "g.73675548dup" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.1897dup/p.Y633Lfs*9, variant 2: c.6571_6574del/p.S2191Mfs*15" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73448421dup" "" "likely pathogenic" "" "0000819985" "1" "70" "2" "73680222" "73680225" "del" "0" "00000" "ALMS1_000518" "g.73680222_73680225del" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.6571_6574del/p.S2191Mfs*15, variant 2: c.7789C>T/p.Q2598*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.73453095_73453098del" "" "likely pathogenic" "" "0000819986" "1" "70" "2" "73675279" "73675279" "subst" "4.06762E-6" "00000" "ALMS1_000777" "g.73675279T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.1628T>A/p.L543*, variant 2: c.10149dup/p.S3384Qfs*7" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73448152T>A" "" "likely pathogenic" "" "0000820202" "1" "70" "2" "73646347" "73646347" "del" "0" "00000" "ALMS1_000775" "g.73646347del" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.550del/p.V184*, variant 2: c.6305C>A/p.S2102*" "error in annotation, protein change should be p.(Leu2379Phe) and not p.(Gln2379*), might be a different transcript, solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.73419219del" "" "likely pathogenic" "" "0000820697" "1" "70" "2" "73678796" "73678796" "subst" "4.06947E-6" "00000" "ALMS1_000611" "g.73678796T>G" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.967G>T/p.E323*, variant 2: c.5145T>G/p.Y1715*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.73451669T>G" "" "likely pathogenic" "" "0000820698" "1" "70" "2" "73678796" "73678796" "subst" "4.06947E-6" "00000" "ALMS1_000611" "g.73678796T>G" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.967G>T/p.E323*, variant 2: c.5145T>G/p.Y1715*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.73451669T>G" "" "likely pathogenic" "" "0000820726" "1" "70" "2" "73800386" "73800386" "del" "0" "00000" "ALMS1_000692" "g.73800386del" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.8782C>T/p.R2928*, variant 2: c.11385del/p.F3795Lfs*38" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73573259del" "" "likely pathogenic" "" "0000820733" "1" "70" "2" "73675962" "73675963" "del" "0" "00000" "ALMS1_000779" "g.73675962_73675963del" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.2317_2318del/p.I773Ffs*13, variant 2: c.2311_2312del/p.I771Ffs*13" "error in annotation, protein change should be p.(Pro771*) and not p.(Ile771Phefs*13), might be a different transcript, solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.73448835_73448836del" "" "likely pathogenic" "" "0000820759" "1" "70" "2" "73680222" "73680225" "del" "0" "00000" "ALMS1_000518" "g.73680222_73680225del" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.1897dup/p.Y633Lfs*9, variant 2: c.6571_6574del/p.S2191Mfs*15" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73453095_73453098del" "" "likely pathogenic" "" "0000820776" "1" "70" "2" "73716872" "73716872" "subst" "0" "00000" "ALMS1_000782" "g.73716872C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.6571_6574del/p.S2191Mfs*15, variant 2: c.7789C>T/p.Q2598*" "error in annotation, protein change should be p.(Gln2597*) and not p.(Gln2598*), might be a different transcript, solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.73489745C>T" "" "likely pathogenic" "" "0000820777" "1" "70" "2" "73784414" "73784414" "dup" "0" "00000" "ALMS1_000545" "g.73784414dup" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.1628T>A/p.L543*, variant 2: c.10149dup/p.S3384Qfs*7" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73557287dup" "" "likely pathogenic" "" "0000820840" "1" "70" "2" "73679956" "73679956" "subst" "2.04663E-5" "00000" "ALMS1_000704" "g.73679956C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "ALMS1, variant 1: c.550del/p.V184*, variant 2: c.6305C>A/p.S2102*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.73452829C>A" "" "likely pathogenic" "" "0000821153" "3" "70" "2" "73676609" "73676610" "ins" "0" "00000" "ALMS1_000780" "g.73676609_73676610insCTATTCTGGACTG" "" "{PMID:Turro 2020:32581362}" "" "ALMS1 c.2958_2959insCTATTCTGGACTG, p.Thr987LeufsTer6" "homozygous, error in annotation: c.2958_2959insCTATTCTGGACTG causes p.Gly987Leufs*8 and not p.Thr987Leufs*6; retired ENSEMBL transcript used" "Germline/De novo (untested)" "?" "" "0" "" "" "g.73449482_73449483insCTATTCTGGACTG" "" "likely pathogenic" "" "0000821456" "0" "70" "2" "73675386" "73675386" "del" "1.62817E-5" "00000" "ALMS1_000325" "g.73675386del" "" "{PMID:Turro 2020:32581362}" "" "ALMS1 c.1729delA, p.Arg577GlyfsTer17" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.73448259del" "" "likely pathogenic" "" "0000823224" "3" "50" "2" "73646368" "73646368" "subst" "8.54847E-5" "00000" "ALMS1_000783" "g.73646368C>A" "" "{PMID:Hull 2020:32856788}" "" "ALMS1 nucleotide 1, protein 1:c.571C>A, p.Leu191Met" "homozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.73419240C>A" "" "VUS" "" "0000823225" "0" "50" "2" "73676473" "73676473" "subst" "2.03907E-5" "00000" "ALMS1_000774" "g.73676473T>A" "" "{PMID:Hull 2020:32856788}" "" "ALMS1 nucleotide 1, protein 1:c.2822T>A, p.Leu941* nucleotide 2, protein 2:c.10483C>T, p.Gln3495*" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.73449346T>A" "" "VUS" "" "0000823226" "0" "50" "2" "73679956" "73679956" "subst" "1.62468E-5" "00000" "ALMS1_000704" "g.73679956C>A" "" "{PMID:Hull 2020:32856788}" "" "ALMS1 nucleotide 1, protein 1:c.6305C>A, p.Ser2102* nucleotide 2, protein 2:c.8164C>T, p.Arg2722*" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.73452829C>A" "" "VUS" "" "0000823274" "0" "50" "2" "73799484" "73799484" "subst" "4.5791E-5" "00000" "ALMS1_000551" "g.73799484C>T" "" "{PMID:Hull 2020:32856788}" "" "ALMS1 nucleotide 1, protein 1:c.2822T>A, p.Leu941* nucleotide 2, protein 2:c.10483C>T, p.Gln3495*" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.73572357C>T" "" "VUS" "" "0000823275" "0" "50" "2" "73717247" "73717247" "subst" "2.04663E-5" "00000" "ALMS1_000435" "g.73717247C>T" "" "{PMID:Hull 2020:32856788}" "" "ALMS1 nucleotide 1, protein 1:c.6305C>A, p.Ser2102* nucleotide 2, protein 2:c.8164C>T, p.Arg2722*" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.73490120C>T" "" "VUS" "" "0000824277" "1" "90" "2" "73799976" "73799976" "subst" "0" "00000" "ALMS1_000557" "g.73799976C>T" "" "{PMID:Bell 2021:33494148}" "" "ALMS1 c.10975C>T, p.(Tyr1524LeufsTer5" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73572849C>T" "" "pathogenic" "" "0000824288" "2" "90" "2" "73678220" "73678220" "dup" "0" "00000" "ALMS1_000784" "g.73678220dup" "" "{PMID:Bell 2021:33494148}" "" "ALMS1 c.4569dup, p.(Arg120Gly)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73451093dup" "" "pathogenic" "" "0000825762" "0" "70" "2" "73718243" "73718244" "del" "0" "00000" "ALMS1_000787" "g.73718243_73718244del" "" "{PMID:Liu-2020:33090715}" "" "c.9154_9155delCT" "" "Germline" "" "" "0" "" "" "g.73491117_73491118del" "" "likely pathogenic (recessive)" "" "0000825763" "0" "70" "2" "73799826" "73799826" "subst" "0" "00000" "ALMS1_000724" "g.73799826C>T" "" "{PMID:Liu-2020:33090715}" "" "c.10825C>T" "" "Germline" "" "" "0" "" "" "g.73572699C>T" "" "likely pathogenic (recessive)" "" "0000826297" "0" "70" "2" "73677553" "73677553" "subst" "8.13246E-6" "00000" "ALMS1_000760" "g.73677553C>A" "" "{PMID:Liu-2020:33090715}" "" "c.3896C>A" "" "Germline" "" "" "0" "" "" "g.73450426C>A" "" "likely pathogenic (recessive)" "" "0000826298" "0" "70" "2" "73716926" "73716932" "del" "0" "00000" "ALMS1_000786" "g.73716926_73716932del" "" "{PMID:Liu-2020:33090715}" "" "c.7836-7842delCAGAGGA" "" "Germline" "" "" "0" "" "" "g.73489799_73489805del" "" "likely pathogenic (recessive)" "" "0000826992" "3" "90" "2" "73682293" "73682293" "subst" "0" "00000" "ALMS1_000785" "g.73682293G>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "7542G>A (Trp2514*)" "" "Germline" "" "" "0" "" "" "g.73455166G>A" "" "pathogenic" "" "0000826993" "0" "70" "2" "73682293" "73682293" "subst" "0" "00000" "ALMS1_000785" "g.73682293G>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ALMS1 c.7548G>A, p.Trp2516*" "homozygous" "Unknown" "?" "" "0" "" "" "g.73455166G>A" "" "likely pathogenic" "" "0000828490" "1" "70" "2" "73676317" "73676317" "subst" "0" "00000" "ALMS1_000788" "g.73676317C>G" "" "{PMID:Perea-Romero 2021:34448047}" "" "ALMS1, c.2660C>G, p.Ser887*, compound heterozygous" "different transcript: ENST00000264448.6(ALMS1):c.2660C>G, p.Ser887*, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.73449190C>G" "" "likely pathogenic" "ACMG" "0000828491" "2" "70" "2" "73826844" "73839058" "del" "0" "00000" "ALMS1_000856" "g.(?_73826844)_(73839058_?)del" "" "{PMID:Perea-Romero 2021:34448047}" "" "arr([GRCh37] 2p13.1(73,826,844-73,839,058)x1), compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.(?_73599717)_(73611931_?)del" "" "likely pathogenic" "ACMG" "0000828542" "0" "50" "2" "73777397" "73777397" "subst" "0" "00000" "ALMS1_000791" "g.73777397C>G" "" "{PMID:Perea-Romero 2021:34448047}" "" "ALMS1, c.9908C>G, p.Ser3303Cys, heterozygous" "different transcript: ENST00000264448.6(ALMS1):c.9908C>G, p.Ser3303Cys, heterozygous" "Unknown" "?" "" "0" "" "" "g.73550270C>G" "" "VUS" "ACMG" "0000828736" "1" "90" "2" "73678679" "73678679" "subst" "0" "00000" "ALMS1_000789" "g.73678679C>G" "" "{PMID:Chen 2021:43360855}" "" "ALMS1 c.[5022C>G];[10825_10826del], V1: c.5022C>G, (p.Tyr1674Ter)" "different transcript: ENST00000264448.6(ALMS1):c.10825_10826del, (p.Arg3609AlafsTer6), alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.73451552C>G" "" "pathogenic" "ACMG" "0000828743" "0" "90" "2" "73681185" "73681185" "subst" "0" "00000" "ALMS1_000790" "g.73681185C>T" "" "{PMID:Chen 2021:43360855}" "" "ALMS1 c.7528C>T(;)11110_11128del, V1: c.7528C>T, (p.Arg2510Ter)" "different transcript: ENST00000264448.6(ALMS1):c.7528C>T, (p.Arg2510Ter), alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.73454058C>T" "" "pathogenic" "ACMG" "0000828941" "2" "90" "2" "73799832" "73799833" "del" "0" "00000" "ALMS1_000792" "g.73799832_73799833del" "" "{PMID:Chen 2021:43360855}" "" "ALMS1 c.[5022C>G];[10825_10826del], V2: c.10825_10826delAG, (p.Arg3609AlafsTer6)" "different transcript: ENST00000264448.6(ALMS1):c.10825_10826del, (p.Arg3609AlafsTer6), alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.73572705_73572706del" "" "pathogenic" "ACMG" "0000828948" "0" "90" "2" "73800117" "73800135" "del" "1.62852E-5" "00000" "ALMS1_000793" "g.73800117_73800135del" "" "{PMID:Chen 2021:43360855}" "" "ALMS1 c.7528C>T(;)11110_11128del, V2: c.11110_11128del, (p.Arg3704LeufsTer11)" "different transcript: ENST00000264448.6(ALMS1):c.11110_11128del, (p.Arg3704LeufsTer11), alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.73572990_73573008del" "" "pathogenic" "ACMG" "0000849993" "0" "30" "2" "73613099" "73613101" "dup" "0" "02326" "ALMS1_000794" "g.73613099_73613101dup" "" "" "" "ALMS1(NM_015120.4):c.106_108dupGCG (p.A36dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73385971_73385973dup" "" "likely benign" "" "0000849994" "0" "30" "2" "73613242" "73613242" "subst" "0" "02330" "ALMS1_000795" "g.73613242G>A" "" "" "" "ALMS1(NM_015120.4):c.249G>A (p.A83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73386114G>A" "" "likely benign" "" "0000849996" "0" "30" "2" "73675553" "73675553" "subst" "0.00303637" "02326" "ALMS1_000799" "g.73675553A>G" "" "" "" "ALMS1(NM_015120.4):c.1902A>G (p.Q634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73448426A>G" "" "likely benign" "" "0000849997" "0" "90" "2" "73675948" "73675948" "subst" "0" "02327" "ALMS1_000800" "g.73675948C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73448821C>G" "" "pathogenic" "" "0000850000" "0" "50" "2" "73677250" "73677250" "subst" "0" "02326" "ALMS1_000802" "g.73677250G>A" "" "" "" "ALMS1(NM_015120.4):c.3599G>A (p.G1200D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73450123G>A" "" "VUS" "" "0000850001" "0" "10" "2" "73677590" "73677590" "subst" "8.13676E-6" "02330" "ALMS1_000803" "g.73677590T>C" "" "" "" "ALMS1(NM_015120.4):c.3939T>C (p.N1313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73450463T>C" "" "benign" "" "0000850003" "0" "50" "2" "73679482" "73679482" "subst" "0.00019951" "01943" "ALMS1_000718" "g.73679482G>A" "" "" "" "ALMS1(NM_015120.4):c.5825G>A (p.R1942H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73452355G>A" "" "VUS" "" "0000850006" "0" "30" "2" "73680160" "73680160" "subst" "6.13171E-5" "01804" "ALMS1_000810" "g.73680160C>T" "" "" "" "ALMS1(NM_015120.4):c.6503C>T (p.(Ser2170Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73453033C>T" "" "likely benign" "" "0000850007" "0" "30" "2" "73680323" "73680323" "subst" "0" "02330" "ALMS1_000811" "g.73680323A>G" "" "" "" "ALMS1(NM_015120.4):c.6672A>G (p.L2224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73453196A>G" "" "likely benign" "" "0000850008" "0" "90" "2" "73680756" "73680757" "del" "0" "02330" "ALMS1_000812" "g.73680756_73680757del" "" "" "" "ALMS1(NM_015120.4):c.7105_7106delAG (p.S2369Qfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73453629_73453630del" "" "pathogenic" "" "0000850011" "0" "30" "2" "73717126" "73717126" "subst" "1.62466E-5" "02330" "ALMS1_000813" "g.73717126G>T" "" "" "" "ALMS1(NM_015120.4):c.8043G>T (p.L2681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73489999G>T" "" "likely benign" "" "0000850012" "0" "30" "2" "73717865" "73717865" "subst" "0.00019904" "02330" "ALMS1_000814" "g.73717865C>A" "" "" "" "ALMS1(NM_015120.4):c.8782C>A (p.R2928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73490738C>A" "" "likely benign" "" "0000850013" "0" "30" "2" "73718317" "73718317" "subst" "0" "02330" "ALMS1_000816" "g.73718317G>A" "" "" "" "ALMS1(NM_015120.4):c.9234G>A (p.A3078=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73491190G>A" "" "likely benign" "" "0000850014" "0" "50" "2" "73747090" "73747090" "subst" "4.06289E-6" "01943" "ALMS1_000817" "g.73747090A>G" "" "" "" "ALMS1(NM_015120.4):c.9725A>G (p.K3242R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73519963A>G" "" "VUS" "" "0000850015" "0" "30" "2" "73784493" "73784493" "subst" "0.000700508" "02330" "ALMS1_000818" "g.73784493G>A" "" "" "" "ALMS1(NM_015120.4):c.10216+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73557366G>A" "" "likely benign" "" "0000850018" "0" "30" "2" "73800568" "73800572" "del" "0" "02330" "ALMS1_000821" "g.73800568_73800572del" "" "" "" "ALMS1(NM_015120.4):c.11550+15_11550+19delATTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73573441_73573445del" "" "likely benign" "" "0000850020" "0" "30" "2" "73829500" "73829500" "subst" "0.00160447" "02330" "ALMS1_000823" "g.73829500G>A" "" "" "" "ALMS1(NM_001378454.1):c.12295+5G>A, ALMS1(NM_015120.4):c.12301+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73602373G>A" "" "likely benign" "" "0000850021" "0" "10" "2" "73830447" "73830448" "del" "0" "02326" "ALMS1_000824" "g.73830447_73830448del" "" "" "" "ALMS1(NM_015120.4):c.12365+15_12365+16delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73603320_73603321del" "" "benign" "" "0000850022" "0" "10" "2" "73830449" "73830449" "subst" "0.0010379" "02326" "ALMS1_000825" "g.73830449A>T" "" "" "" "ALMS1(NM_015120.4):c.12365+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73603322A>T" "" "benign" "" "0000858675" "0" "30" "2" "73613298" "73613298" "subst" "1.40083E-5" "01804" "ALMS1_000796" "g.73613298G>A" "" "" "" "ALMS1(NM_015120.4):c.302G>A (p.(Gly102Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73386170G>A" "" "likely benign" "" "0000858676" "0" "30" "2" "73646411" "73646411" "subst" "9.76833E-5" "01804" "ALMS1_000797" "g.73646411A>C" "" "" "" "ALMS1(NM_015120.4):c.614A>C (p.(Glu205Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73419283A>C" "" "likely benign" "" "0000858677" "0" "30" "2" "73650055" "73650055" "subst" "1.2197E-5" "02326" "ALMS1_000798" "g.73650055G>A" "" "" "" "ALMS1(NM_015120.4):c.720G>A (p.A240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73422927G>A" "" "likely benign" "" "0000858680" "0" "30" "2" "73676909" "73676909" "subst" "6.11322E-5" "02326" "ALMS1_000801" "g.73676909G>T" "" "" "" "ALMS1(NM_015120.4):c.3258G>T (p.Q1086H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73449782G>T" "" "likely benign" "" "0000858683" "0" "50" "2" "73677993" "73677993" "subst" "0" "01943" "ALMS1_000805" "g.73677993C>G" "" "" "" "ALMS1(NM_015120.4):c.4336C>G (p.H1446D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73450866C>G" "" "VUS" "" "0000858684" "0" "30" "2" "73677998" "73677998" "subst" "0.000679061" "02326" "ALMS1_000806" "g.73677998A>G" "" "" "" "ALMS1(NM_015120.4):c.4347A>G (p.L1449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73450871A>G" "" "likely benign" "" "0000858685" "0" "30" "2" "73678054" "73678054" "subst" "0.000199304" "02330" "ALMS1_000807" "g.73678054G>T" "" "" "" "ALMS1(NM_015120.4):c.4403G>T (p.G1468V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73450927G>T" "" "likely benign" "" "0000858686" "0" "50" "2" "73678384" "73678384" "subst" "3.2619E-5" "01804" "ALMS1_000808" "g.73678384C>T" "" "" "" "ALMS1(NM_015120.4):c.4727C>T (p.(Pro1578Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73451257C>T" "" "VUS" "" "0000858687" "0" "50" "2" "73678819" "73678819" "subst" "0" "01804" "ALMS1_000809" "g.73678819A>G" "" "" "" "ALMS1(NM_015120.4):c.5162A>G (p.(Tyr1723Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73451692A>G" "" "VUS" "" "0000858691" "0" "30" "2" "73718198" "73718200" "del" "0" "02326" "ALMS1_000815" "g.73718198_73718200del" "" "" "" "ALMS1(NM_015120.4):c.9115_9117delCCT (p.P3039del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73491071_73491073del" "" "likely benign" "" "0000858694" "0" "30" "2" "73786123" "73786123" "subst" "0.000508436" "02326" "ALMS1_000819" "g.73786123A>G" "" "" "" "ALMS1(NM_015120.4):c.10241A>G (p.E3414G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73558996A>G" "" "likely benign" "" "0000858695" "0" "50" "2" "73800171" "73800171" "subst" "8.14783E-6" "01943" "ALMS1_000820" "g.73800171A>G" "" "" "" "ALMS1(NM_015120.4):c.11164A>G (p.K3722E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73573044A>G" "" "VUS" "" "0000858698" "0" "30" "2" "73827821" "73827821" "subst" "0" "02326" "ALMS1_000822" "g.73827821G>A" "" "" "" "ALMS1(NM_015120.4):c.11688G>A (p.V3896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73600694G>A" "" "likely benign" "" "0000880870" "0" "70" "2" "73679474" "73679474" "subst" "0" "01741" "ALMS1_000826" "g.73679474C>A" "" "" "" "c.5817C>A" "heterozygous" "Germline/De novo (untested)" "" "" "0" "" "" "g.73452347C>A" "" "pathogenic (recessive)" "" "0000881116" "0" "70" "2" "73675186" "73675186" "subst" "0" "04400" "ALMS1_000827" "g.73675186T>A" "" "" "" "c.1529T>A" "" "Germline" "" "" "0" "" "" "g.73448056T>A" "" "likely pathogenic (recessive)" "ACMG" "0000885368" "0" "30" "2" "73649988" "73649988" "subst" "1.21987E-5" "01804" "ALMS1_000828" "g.73649988T>C" "" "" "" "ALMS1(NM_015120.4):c.650T>C (p.(Ile218Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73422860T>C" "" "likely benign" "" "0000885369" "0" "30" "2" "73650056" "73650056" "subst" "8.13081E-6" "02326" "ALMS1_000829" "g.73650056C>T" "" "" "" "ALMS1(NM_015120.4):c.721C>T (p.P241S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73422928C>T" "" "likely benign" "" "0000885371" "0" "30" "2" "73651694" "73651694" "subst" "1.2207E-5" "01804" "ALMS1_000830" "g.73651694A>C" "" "" "" "ALMS1(NM_015120.4):c.901A>C (p.(Ile302Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73424566A>C" "" "likely benign" "" "0000885376" "0" "90" "2" "73677549" "73677549" "subst" "0" "02327" "ALMS1_000831" "g.73677549C>T" "" "" "" "ALMS1(ENST00000264448.6):c.3892C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73450422C>T" "" "pathogenic" "" "0000885379" "0" "30" "2" "73677858" "73677858" "subst" "0.000207319" "01804" "ALMS1_000832" "g.73677858A>G" "" "" "" "ALMS1(NM_015120.4):c.4201A>G (p.(Thr1403Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73450731A>G" "" "likely benign" "" "0000885383" "0" "30" "2" "73717102" "73717102" "subst" "1.21858E-5" "02326" "ALMS1_000833" "g.73717102C>T" "" "" "" "ALMS1(NM_015120.4):c.8019C>T (p.F2673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73489975C>T" "" "likely benign" "" "0000885391" "0" "90" "2" "73828439" "73828439" "subst" "0" "02327" "ALMS1_000835" "g.73828439G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73601312G>A" "" "pathogenic" "" "0000896684" "0" "90" "2" "73681185" "73681185" "subst" "0" "00000" "ALMS1_000790" "g.73681185C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000416" "{PMID:Chen 2021:33608557}" "" "ALMS1 c.7528C>T(;)11110_11128del; p.(Arg2510Ter)" "different transcript NM_015120.2(ALMS1):c.7528C>T, p.(Arg2510*); heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.73454058C>T" "" "pathogenic" "" "0000896685" "0" "90" "2" "73800111" "73800129" "del" "0" "00000" "ALMS1_000834" "g.73800111_73800129del" "Taiwan Biobank: 0.000663; GnomAD_exome_East: 0.000223; GnomAD_All: 0.0000161" "{PMID:Chen 2021:33608557}" "" "ALMS1 c.7528C>T(;)11110_11128del; p.(Arg3704LeufsTer11)" "error in protein annotation: p.(Ala3704Leufs*13) and not p.(Arg3704Leufs*13); heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.73572984_73573002del" "" "pathogenic" "" "0000896717" "1" "90" "2" "73678679" "73678679" "subst" "0" "00000" "ALMS1_000789" "g.73678679C>G" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ALMS1 c.[5022C>G];[10825_10826del]; p.(Tyr1674Ter)" "different transcript NM_015120.2(ALMS1):c.5022C>G, p.(Tyr1674Ter) ; heterozygous" "Germline" "yes" "" "0" "" "" "g.73451552C>G" "" "pathogenic" "" "0000896718" "2" "90" "2" "73799832" "73799833" "del" "0" "00000" "ALMS1_000792" "g.73799832_73799833del" "Taiwan Biobank: 0.000659; GnomAD_exome_East: 0.000279; GnomAD_All: 0.0000201" "{PMID:Chen 2021:33608557}" "" "ALMS1 c.[5022C>G];[10825_10826del]; p.(Arg3609AlafsTer6)" "different transcript and error in protein annotation: NM_001378454.1:c.10828_10829del, p.(Arg3610Alafs*6); heterozygous" "Germline" "yes" "" "0" "" "" "g.73572705_73572706del" "" "pathogenic" "" "0000905849" "0" "90" "2" "73651989" "73651995" "del" "0" "00000" "ALMS1_000438" "g.73651989_73651995del" "" "{PMID:Zhu 2022:35456422}" "" "ALMS1 c.1199_1205del, p.(Thr400Lysfs*11)" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.73424861_73424867del" "" "pathogenic" "ACMG" "0000905850" "0" "90" "2" "73717539" "73717900" "del" "0" "00000" "ALMS1_000836" "g.73717539_73717900del" "" "{PMID:Zhu 2022:35456422}" "" "ALMS1 c.8456_8817del, p.(Thr2819Argfs*29)" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.73490412_73490773del" "" "pathogenic" "ACMG" "0000911775" "0" "50" "2" "73676429" "73676429" "dup" "0" "01804" "ALMS1_000838" "g.73676429dup" "" "" "" "ALMS1(NM_015120.4):c.2772dup (p.(Leu927Serfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73449302dup" "" "VUS" "" "0000911777" "0" "70" "2" "73682420" "73682420" "subst" "0" "01804" "ALMS1_000839" "g.73682420A>T" "" "" "" "ALMS1(NM_015120.4):c.7669A>T (p.(Lys2559*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73455293A>T" "" "likely pathogenic" "" "0000923776" "0" "30" "2" "73676959" "73676959" "subst" "0.000248813" "02326" "ALMS1_000840" "g.73676959A>C" "" "" "" "ALMS1(NM_015120.4):c.3308A>C (p.K1103T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73449832A>C" "" "likely benign" "" "0000923778" "0" "30" "2" "73717865" "73717865" "subst" "0.00019904" "02325" "ALMS1_000814" "g.73717865C>A" "" "" "" "ALMS1(NM_015120.4):c.8782C>A (p.R2928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73490738C>A" "" "likely benign" "" "0000923779" "0" "50" "2" "73827849" "73827849" "subst" "0" "02325" "ALMS1_000841" "g.73827849G>A" "" "" "" "ALMS1(NM_015120.4):c.11716G>A (p.V3906I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73600722G>A" "" "VUS" "" "0000923780" "0" "30" "2" "73828407" "73828407" "subst" "0" "02330" "ALMS1_000842" "g.73828407C>T" "" "" "" "ALMS1(NM_015120.4):c.11961C>T (p.S3987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73601280C>T" "" "likely benign" "" "0000928655" "0" "30" "2" "73675776" "73675776" "subst" "0.000285311" "01804" "ALMS1_000843" "g.73675776A>G" "" "" "" "ALMS1(NM_015120.4):c.2125A>G (p.(Thr709Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73448649A>G" "" "likely benign" "" "0000933808" "0" "90" "2" "73799976" "73799976" "subst" "0" "04552" "ALMS1_000557" "g.73799976C>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "c.10975C>T" "" "Germline" "yes" "rs780438592" "0" "" "" "g.73572849C>T" "{CV:977960}" "pathogenic" "ACMG" "0000933809" "0" "90" "2" "73675381" "73675381" "subst" "4.07053E-6" "04552" "ALMS1_000757" "g.73675381C>G" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "c.1730C>G" "" "Germline" "yes" "rs756389027" "0" "" "" "g.73448254C>G" "{CV:801720}" "pathogenic" "" "0000947964" "0" "50" "2" "73650076" "73650076" "subst" "0" "01804" "ALMS1_000844" "g.73650076A>C" "" "" "" "ALMS1(NM_015120.4):c.741A>C (p.(Gln247His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73422948A>C" "" "VUS" "" "0000947965" "0" "30" "2" "73653700" "73653700" "subst" "0.000865375" "02326" "ALMS1_000845" "g.73653700A>G" "" "" "" "ALMS1(NM_015120.4):c.1341+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73426572A>G" "" "likely benign" "" "0000947966" "0" "90" "2" "73676297" "73676297" "dup" "0" "02330" "ALMS1_000846" "g.73676297dup" "" "" "" "ALMS1(NM_015120.4):c.2646dupT (p.E883*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73449170dup" "" "pathogenic" "" "0000947969" "0" "90" "2" "73716843" "73716844" "del" "0" "02326" "ALMS1_000847" "g.73716843_73716844del" "" "" "" "ALMS1(NM_015120.4):c.7760_7761delGT (p.C2587Ffs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73489716_73489717del" "" "pathogenic" "" "0000947970" "0" "30" "2" "73746956" "73746956" "subst" "0" "02330" "ALMS1_000848" "g.73746956T>C" "" "" "" "ALMS1(NM_015120.4):c.9597T>C (p.S3199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73519829T>C" "" "likely benign" "" "0000947971" "0" "30" "2" "73829500" "73829500" "subst" "0.00160447" "02326" "ALMS1_000823" "g.73829500G>A" "" "" "" "ALMS1(NM_001378454.1):c.12295+5G>A, ALMS1(NM_015120.4):c.12301+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73602373G>A" "" "likely benign" "" "0000959043" "0" "70" "2" "73800386" "73800386" "del" "0" "00006" "ALMS1_000692" "g.73800386del" "" "{PMID:Weisschuh 2024:37734845}" "" "c.11385del" "ACMG PM2, PVS1; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.73573259del" "" "likely pathogenic (recessive)" "ACMG" "0000962284" "0" "50" "2" "73675692" "73675692" "subst" "0.000207787" "02325" "ALMS1_000849" "g.73675692C>G" "" "" "" "ALMS1(NM_015120.4):c.2041C>G (p.R681G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73448565C>G" "" "VUS" "" "0000962288" "0" "50" "2" "73800433" "73800433" "subst" "2.44214E-5" "02325" "ALMS1_000850" "g.73800433G>A" "" "" "" "ALMS1(NM_015120.4):c.11432G>A (p.S3811N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73573306G>A" "" "VUS" "" "0000962289" "0" "30" "2" "73826660" "73826660" "subst" "0" "02330" "ALMS1_000851" "g.73826660A>C" "" "" "" "ALMS1(NM_015120.4):c.11671+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73599533A>C" "" "likely benign" "" "0000975408" "0" "30" "2" "73659340" "73659340" "subst" "8.13319E-6" "01804" "ALMS1_000852" "g.73659340G>A" "" "" "" "ALMS1(NM_001378454.1):c.1353G>A (p.(Ser451Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73432212G>A" "" "likely benign" "" "0000975409" "0" "90" "2" "73678796" "73678796" "subst" "4.06947E-6" "02325" "ALMS1_000611" "g.73678796T>G" "" "" "" "ALMS1(NM_015120.4):c.5145T>G (p.Y1715*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73451669T>G" "" "pathogenic" "" "0000975410" "0" "50" "2" "73679805" "73679805" "subst" "0" "01804" "ALMS1_000853" "g.73679805A>G" "" "" "" "ALMS1(NM_001378454.1):c.6151A>G (p.(Thr2051Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73452678A>G" "" "VUS" "" "0000975412" "0" "70" "2" "73786270" "73786270" "subst" "4.10715E-6" "01804" "ALMS1_000854" "g.73786270G>A" "" "" "" "ALMS1(NM_001378454.1):c.10381+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73559143G>A" "" "likely pathogenic" "" "0000975413" "0" "50" "2" "73827897" "73827897" "subst" "0" "02325" "ALMS1_000855" "g.73827897G>A" "" "" "" "ALMS1(NM_015120.4):c.11764G>A (p.E3922K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73600770G>A" "" "VUS" "" "0000975414" "0" "30" "2" "73829500" "73829500" "subst" "0.00160447" "01804" "ALMS1_000823" "g.73829500G>A" "" "" "" "ALMS1(NM_001378454.1):c.12295+5G>A, ALMS1(NM_015120.4):c.12301+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73602373G>A" "" "likely benign" "" "0000987862" "21" "90" "2" "73678937" "73678937" "del" "0" "03544" "ALMS1_000876" "g.73678937del" "" "" "" "" "" "Germline" "yes" "rs2103785835" "0" "" "" "g.73451810del" "{CV:1299322}" "likely pathogenic" "ACMG" "0000987863" "11" "70" "2" "73827953" "73827953" "dup" "0" "03544" "ALMS1_000877" "g.73827953dup" "" "" "" "" "" "Germline" "yes" "rs757722767" "0" "" "" "g.73600826dup" "{CV:550296}" "likely pathogenic" "ACMG" "0000993002" "0" "30" "2" "73650006" "73650006" "subst" "0" "01804" "ALMS1_000878" "g.73650006C>A" "" "" "" "ALMS1(NM_015120.4):c.671C>A (p.(Pro224His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993003" "0" "50" "2" "73675088" "73675088" "subst" "0" "02325" "ALMS1_000879" "g.73675088A>G" "" "" "" "ALMS1(NM_015120.4):c.1436-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993004" "0" "50" "2" "73677631" "73677631" "subst" "0" "01804" "ALMS1_000880" "g.73677631T>C" "" "" "" "ALMS1(NM_015120.4):c.3980T>C (p.(Ile1327Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993005" "0" "50" "2" "73677898" "73677898" "subst" "0" "01804" "ALMS1_000881" "g.73677898G>A" "" "" "" "ALMS1(NM_015120.4):c.4247G>A (p.(Arg1416Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993006" "0" "50" "2" "73799821" "73799821" "subst" "0.000146793" "01804" "ALMS1_000882" "g.73799821G>A" "" "" "" "ALMS1(NM_015120.4):c.10820G>A (p.(Arg3607Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017273" "1" "90" "2" "73799776" "73799776" "del" "5.70586E-5" "00006" "ALMS1_000883" "g.73799776del" "" "{PMID:Lord 2024:39243181}" "" "" "" "Germline" "" "" "0" "" "" "g.73572649del" "" "pathogenic (recessive)" "" "0001017274" "2" "30" "2" "73800689" "73800689" "subst" "0" "00006" "ALMS1_000884" "g.73800689G>A" "" "{PMID:Lord 2024:39243181}" "" "ENST00000337331.10:c.3570+5G>A" "2-exon duplication (not specified) on same allele; 2 homozygous cases in UK BioBank" "Germline" "" "" "0" "" "" "g.73573562G>A" "" "likely benign" "" "0001033463" "0" "50" "2" "73613053" "73613070" "dup" "0" "01804" "ALMS1_000885" "g.73613053_73613070dup" "" "" "" "ALMS1(NM_001378454.1):c.57_74dup (p.(Glu23_Glu28dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033465" "0" "30" "2" "73677945" "73677945" "subst" "0" "01804" "ALMS1_000886" "g.73677945C>A" "" "" "" "ALMS1(NM_001378454.1):c.4288C>A (p.(His1430Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033467" "0" "30" "2" "73678772" "73678772" "subst" "4.06845E-6" "02326" "ALMS1_000887" "g.73678772A>G" "" "" "" "ALMS1(NM_015120.4):c.5121A>G (p.S1707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033468" "0" "70" "2" "73680493" "73680493" "del" "0" "01804" "ALMS1_000888" "g.73680493del" "" "" "" "ALMS1(NM_001378454.1):c.6839del (p.(Pro2280Leufs*63))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033470" "0" "50" "2" "73681197" "73681197" "subst" "6.54336E-5" "01804" "ALMS1_000889" "g.73681197A>G" "" "" "" "ALMS1(NM_001378454.1):c.7540+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033471" "0" "50" "2" "73762036" "73762036" "subst" "4.47151E-5" "01804" "ALMS1_000890" "g.73762036G>A" "" "" "" "ALMS1(NM_001378454.1):c.9864G>A (p.(Pro3288Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033472" "0" "50" "2" "73799977" "73799977" "subst" "8.54298E-5" "01804" "ALMS1_000891" "g.73799977G>A" "" "" "" "ALMS1(NM_001378454.1):c.10973G>A (p.(Arg3658Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033475" "0" "50" "2" "73829405" "73829405" "subst" "4.06128E-6" "01804" "ALMS1_000892" "g.73829405A>C" "" "" "" "ALMS1(NM_001378454.1):c.12208A>C (p.(Ser4070Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048002" "0" "30" "2" "73613053" "73613070" "dup" "0" "03779" "ALMS1_000885" "g.73613053_73613070dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" ## 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 ALMS1 ## Count = 283 "{{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}}" "0000061694" "00025924" "90" "10942" "0" "10942" "0" "c.10942G>T" "r.(?)" "p.(Glu3648Ter)" "16" "0000074348" "00025924" "90" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Ter)" "5" "0000079602" "00025924" "90" "2036" "0" "2036" "0" "c.2036A>G" "r.(?)" "p.(Tyr679Cys)" "" "0000079696" "00025924" "90" "9779" "0" "9779" "0" "c.9779A>C" "r.(?)" "p.(Asp3260Ala)" "" "0000116964" "00025924" "70" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Ter)" "5" "0000130221" "00025924" "70" "11288" "0" "11288" "0" "c.11288C>A" "r.(?)" "p.(Ser3763Ter)" "" "0000356893" "00025924" "90" "1196" "0" "1202" "0" "c.1196_1202del" "r.(?)" "p.(Thr399LysfsTer11)" "" "0000356894" "00025924" "90" "5690" "0" "5690" "0" "c.5690C>G" "r.(?)" "p.(Ser1897Ter)" "" "0000358167" "00025924" "90" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Ter)" "5" "0000435949" "00025924" "70" "6702" "0" "6705" "0" "c.6702_6705del" "r.(?)" "p.(Lys2235GlnfsTer31)" "8" "0000438392" "00025924" "90" "2533" "0" "2533" "0" "c.2533G>T" "r.(?)" "p.(Gly846Ter)" "8" "0000438393" "00025924" "90" "3922" "0" "3922" "0" "c.3922G>T" "r.(?)" "p.(Glu1308Ter)" "8" "0000438627" "00025924" "90" "8161" "0" "8161" "0" "c.8161C>T" "r.(?)" "p.(Arg2721Ter)" "9" "0000645305" "00025924" "70" "4743" "0" "4743" "0" "c.4743C>G" "r.(?)" "p.(Tyr1581Ter)" "" "0000650680" "00025924" "30" "1871" "0" "1871" "0" "c.1871A>G" "r.(?)" "p.(His624Arg)" "" "0000650681" "00025924" "70" "5142" "0" "5142" "0" "c.5142T>G" "r.(?)" "p.(Tyr1714Ter)" "" "0000650682" "00025924" "10" "5359" "0" "5359" "0" "c.5359A>G" "r.(?)" "p.(Asn1787Asp)" "" "0000650683" "00025924" "10" "6302" "0" "6302" "0" "c.6302C>T" "r.(?)" "p.(Ser2101Leu)" "" "0000650684" "00025924" "50" "6827" "0" "6827" "0" "c.6827G>A" "r.(?)" "p.(Arg2276Gln)" "" "0000650685" "00025924" "50" "8240" "0" "8240" "0" "c.8240T>G" "r.(?)" "p.(Val2747Gly)" "" "0000650686" "00025924" "50" "9617" "0" "9617" "0" "c.9617C>T" "r.(?)" "p.(Thr3206Ile)" "" "0000650687" "00025924" "30" "9786" "0" "9786" "0" "c.9786G>A" "r.(?)" "p.(Gln3262=)" "" "0000650688" "00025924" "10" "9914" "0" "9914" "0" "c.9914A>G" "r.(?)" "p.(Asn3305Ser)" "" "0000653160" "00025924" "90" "6433" "0" "6433" "0" "c.6433C>T" "r.(?)" "p.(Arg2145Ter)" "" "0000669651" "00025924" "10" "5359" "0" "5359" "0" "c.5359A>G" "r.(?)" "p.(Asn1787Asp)" "" "0000669652" "00025924" "10" "9914" "0" "9914" "0" "c.9914A>G" "r.(?)" "p.(Asn3305Ser)" "" "0000684491" "00025924" "90" "296" "0" "296" "0" "c.296C>A" "r.(?)" "p.(Ser99Ter)" "" "0000684492" "00025924" "90" "0" "0" "0" "0" "c.643eC>T" "r.(?)" "p.(Arg2145Ter)" "" "0000685001" "00025924" "90" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Ter)" "" "0000685002" "00025924" "70" "5240" "0" "5240" "0" "c.5240A>T" "r.(?)" "p.(Gln1747Leu)" "" "0000685003" "00025924" "70" "11547" "3" "11547" "3" "c.11547+3A>T" "r.spl" "p.?" "" "0000685004" "00025924" "70" "12010" "0" "12010" "0" "c.12010C>T" "r.(?)" "p.(Gln4004Ter)" "" "0000709015" "00025924" "70" "54" "0" "55" "0" "c.54_55insTAG" "r.(?)" "p.(Glu19Ter)" "" "0000710228" "00025924" "50" "719" "0" "719" "0" "c.719C>A" "r.(?)" "p.(Pro240His)" "" "0000710336" "00025924" "50" "9115" "0" "9115" "0" "c.9115T>C" "r.(?)" "p.(Ser3039Pro)" "" "0000710804" "00025924" "30" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.(Lys108Arg)" "1" "0000713629" "00025924" "90" "2954" "0" "2955" "0" "c.2954_2955insCTGGACTGCTATT" "r.(?)" "p.(Gly986TrpfsTer8)" "" "0000714571" "00025924" "50" "9928" "0" "9928" "0" "c.9928C>T" "r.(?)" "p.(Pro3310Ser)" "" "0000714572" "00025924" "50" "11559" "0" "11559" "0" "c.11559T>A" "r.(?)" "p.(His3853Gln)" "" "0000730335" "00025924" "90" "4249" "0" "4249" "0" "c.4249del" "r.(?)" "p.(Arg1417GlyfsTer55)" "" "0000730336" "00025924" "90" "4474" "0" "4474" "0" "c.4474G>T" "r.(?)" "p.(Glu1492Ter)" "" "0000730337" "00025924" "90" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Ter)" "" "0000730356" "00025924" "90" "7568" "0" "7569" "0" "c.7568_7569del" "r.(?)" "p.(His2523ArgfsTer11)" "" "0000730357" "00025924" "90" "11615" "0" "11616" "0" "c.11615_11616del" "r.(?)" "p.(Ser3872TyrfsTer19)" "" "0000731161" "00025924" "90" "2212" "0" "2212" "0" "c.2212del" "r.(?)" "p.(Glu738ArgfsTer41)" "" "0000731181" "00025924" "90" "3056" "0" "3056" "0" "c.3056dup" "r.(?)" "p.(Asp1019GlufsTer2)" "" "0000732484" "00025924" "50" "5297" "0" "5297" "0" "c.5297A>G" "r.(?)" "p.(Asn1766Ser)" "" "0000735188" "00025924" "70" "5245" "0" "5245" "0" "c.5245A>G" "r.(?)" "p.(Thr1749Ala)" "" "0000759703" "00025924" "90" "324" "4066" "10384" "3639" "c.324+4066_10384+3639delinsCACTT" "r.?" "p.?" "" "0000759738" "00025924" "90" "4153" "0" "4153" "0" "c.4153dup" "r.(?)" "p.(Thr1385AsnfsTer15)" "8" "0000759739" "00025924" "90" "6568" "0" "6571" "0" "c.6568_6571del" "r.(?)" "p.(Ser2190MetfsTer15)" "8" "0000759848" "00025924" "70" "3899" "0" "3899" "0" "c.3899C>A" "r.(?)" "p.(Ser1300Ter)" "" "0000759878" "00025924" "70" "4904" "0" "4907" "0" "c.4904_4907del" "r.(?)" "p.(Ser1635IlefsTer2)" "" "0000763478" "00025924" "70" "6302" "0" "6302" "0" "c.6302C>A" "r.(?)" "p.(Ser2101Ter)" "8" "0000763480" "00025924" "70" "7474" "0" "7475" "0" "c.7474_7475del" "r.(?)" "p.(Ser2492ThrfsTer5)" "8" "0000763482" "00025924" "90" "11413" "0" "11413" "0" "c.11413C>T" "r.(?)" "p.(Arg3805Ter)" "16" "0000763887" "00025924" "70" "2087" "0" "2087" "0" "c.2087C>A" "r.(?)" "p.(Ser696Ter)" "" "0000763888" "00025924" "70" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351Ter)" "" "0000763889" "00025924" "70" "2087" "0" "2087" "0" "c.2087C>A" "r.(?)" "p.(Ser696Ter)" "" "0000763890" "00025924" "70" "4888" "0" "4888" "0" "c.4888C>T" "r.(?)" "p.(Gln1630Ter)" "" "0000763891" "00025924" "70" "4888" "0" "4888" "0" "c.4888C>T" "r.(?)" "p.(Gln1630Ter)" "" "0000763969" "00025924" "70" "4914" "0" "4917" "0" "c.4914_4917del" "r.(?)" "p.(Asn1638LysfsTer4)" "" "0000763970" "00025924" "70" "6166" "0" "6167" "0" "c.6166_6167dup" "r.(?)" "p.(Leu2057PhefsTer17)" "" "0000763971" "00025924" "70" "5628" "0" "5628" "0" "c.5628dup" "r.(?)" "p.(Gly1877ArgfsTer7)" "" "0000764911" "00025924" "70" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Trp348Ter)" "" "0000765781" "00025924" "70" "11873" "-2" "11873" "-2" "c.11873-2A>T" "r.spl" "p.?" "" "0000765799" "00025924" "70" "846" "0" "846" "0" "c.846dup" "r.(?)" "p.(Glu283ArgfsTer12)" "" "0000765803" "00025924" "70" "2726" "0" "2726" "0" "c.2726C>G" "r.(?)" "p.(Ser909Ter)" "" "0000765834" "00025924" "70" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255Lys)" "" "0000765874" "00025924" "70" "1671" "0" "1671" "0" "c.1671del" "r.(?)" "p.(Pro558LeufsTer37)" "" "0000783883" "00025924" "70" "11113" "0" "11131" "0" "c.11113_11131del" "r.(?)" "p.(Arg3705LeufsTer11)" "" "0000783884" "00025924" "70" "2087" "0" "2087" "0" "c.2087C>A" "r.(?)" "p.(Ser696Ter)" "" "0000783887" "00025924" "70" "2067" "0" "2067" "0" "c.2067del" "r.(?)" "p.(Asp690IlefsTer4)" "" "0000783888" "00025924" "70" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Ter)" "" "0000783889" "00025924" "70" "5414" "0" "5414" "0" "c.5414del" "r.(?)" "p.(Tyr1806ThrfsTer23)" "" "0000783891" "00025924" "50" "7399" "0" "7399" "0" "c.7399G>T" "r.(?)" "p.(Glu2467Ter)" "" "0000783898" "00025924" "50" "10238" "0" "10238" "0" "c.10238A>G" "r.(?)" "p.(Glu3413Gly)" "" "0000783974" "00025924" "70" "9445" "0" "9448" "0" "c.9445_9448dup" "r.(?)" "p.(Ser3150LysfsTer2)" "" "0000783975" "00025924" "70" "3184" "0" "3184" "0" "c.3184C>T" "r.(?)" "p.(Gln1062Ter)" "" "0000783976" "00025924" "70" "5695" "0" "5698" "0" "c.5695_5698del" "r.(?)" "p.(Glu1900ArgfsTer18)" "" "0000783977" "00025924" "50" "9646" "0" "9646" "0" "c.9646T>A" "r.(?)" "p.(Ser3216Thr)" "" "0000784602" "00025924" "50" "451" "-5" "451" "-5" "c.451-5T>G" "r.?" "p.?" "" "0000784603" "00025924" "50" "9733" "0" "9733" "0" "c.9733G>A" "r.(?)" "p.(Ala3245Thr)" "" "0000784606" "00025924" "50" "5598" "0" "5598" "0" "c.5598dup" "r.(?)" "p.(Asp1867ArgfsTer4)" "" "0000784607" "00025924" "50" "9272" "0" "9272" "0" "c.9272C>G" "r.(?)" "p.(Ser3091Cys)" "" "0000784608" "00025924" "50" "2416" "0" "2416" "0" "c.2416G>C" "r.(?)" "p.(Val806Leu)" "" "0000784609" "00025924" "50" "4329" "0" "4329" "0" "c.4329G>T" "r.(?)" "p.(Leu1443Phe)" "" "0000784611" "00025924" "50" "2416" "0" "2416" "0" "c.2416G>C" "r.(?)" "p.(Val806Leu)" "" "0000784612" "00025924" "50" "4885" "0" "4885" "0" "c.4885C>T" "r.(?)" "p.(Arg1629Trp)" "" "0000784647" "00025924" "50" "4329" "0" "4329" "0" "c.4329G>T" "r.(?)" "p.(Leu1443Phe)" "" "0000784648" "00025924" "50" "7033" "0" "7033" "0" "c.7033C>T" "r.(?)" "p.(Arg2345Trp)" "" "0000784654" "00025924" "50" "2416" "0" "2416" "0" "c.2416G>C" "r.(?)" "p.(Val806Leu)" "" "0000784655" "00025924" "50" "4885" "0" "4885" "0" "c.4885C>T" "r.(?)" "p.(Arg1629Trp)" "" "0000785557" "00025924" "90" "3656" "0" "3656" "0" "c.3656C>G" "r.(?)" "p.(Ser1219Ter)" "" "0000785569" "00025924" "50" "9974" "0" "9974" "0" "c.9974C>T" "r.(?)" "p.(Ser3325Leu)" "" "0000785581" "00025924" "90" "4601" "0" "4601" "0" "c.4601C>A" "r.(?)" "p.(Tyr1534Ter)" "" "0000786410" "00025924" "90" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Trp266Ter)" "" "0000786477" "00025924" "90" "3899" "0" "3899" "0" "c.3899C>A" "r.(?)" "p.(Ser1300Ter)" "" "0000788370" "00025924" "50" "9733" "0" "9733" "0" "c.9733G>A" "r.(?)" "p.(Ala3245Thr)" "11" "0000788428" "00025924" "50" "5828" "0" "5828" "0" "c.5828G>A" "r.(?)" "p.(Arg1943His)" "8" "0000788445" "00025924" "50" "5828" "0" "5828" "0" "c.5828G>A" "r.(?)" "p.(Arg1943His)" "8" "0000788515" "00025924" "50" "6575" "0" "6575" "0" "c.6575G>A" "r.(?)" "p.(Gly2192Asp)" "8" "0000794281" "00025924" "90" "9151" "0" "9152" "0" "c.9151_9152del" "r.(?)" "p.(Cys3052SerfsTer9)" "10" "0000794282" "00025924" "90" "10822" "0" "10822" "0" "c.10822C>T" "r.(?)" "p.(Arg3608Ter)" "16" "0000794726" "00025924" "90" "6061" "0" "6061" "0" "c.6061C>T" "r.(?)" "p.(Gln2021Ter)" "" "0000794730" "00025924" "90" "8779" "0" "8779" "0" "c.8779C>T" "r.(?)" "p.(Arg2927Ter)" "" "0000794738" "00025924" "90" "11873" "-2" "11873" "-2" "c.11873-2A>T" "r.spl" "p.?" "" "0000796275" "00025924" "90" "2999" "0" "2999" "0" "c.2999C>G" "r.(?)" "p.(Ser1000Ter)" "8" "0000796276" "00025924" "90" "11413" "0" "11413" "0" "c.11413C>T" "r.(?)" "p.(Arg3805Ter)" "16" "0000796278" "00025924" "90" "9767" "0" "9767" "0" "c.9767C>G" "r.(?)" "p.(Ser3256Cys)" "11" "0000797931" "00025924" "70" "4147" "0" "4147" "0" "c.4147dup" "r.(?)" "p.(Gln1383ProfsTer17)" "" "0000810996" "00025924" "90" "11117" "0" "11117" "0" "c.11117C>G" "r.(?)" "p.(Ser3706Cys)" "" "0000810997" "00025924" "90" "10882" "0" "10882" "0" "c.10882C>T" "r.(?)" "p.(Arg3628Ter)" "" "0000811391" "00025924" "70" "11873" "-2" "11873" "-2" "c.11873-2A>T" "r.spl" "p.?" "" "0000812543" "00025924" "70" "7433" "0" "7433" "0" "c.7433C>G" "r.(?)" "p.(Ser2478Ter)" "" "0000812544" "00025924" "70" "6302" "0" "6302" "0" "c.6302C>A" "r.(?)" "p.(Ser2101Ter)" "" "0000812550" "00025924" "70" "4747" "0" "4747" "0" "c.4747C>T" "r.(?)" "p.(Gln1583Ter)" "" "0000812551" "00025924" "90" "8861" "0" "8861" "0" "c.8861dup" "r.(?)" "p.(Asp2954GlufsTer14)" "" "0000812554" "00025924" "90" "6163" "0" "6164" "0" "c.6163_6164dup" "r.(?)" "p.(Asn2055LysfsTer19)" "" "0000812555" "00025924" "70" "4888" "0" "4888" "0" "c.4888C>T" "r.(?)" "p.(Gln1630Ter)" "" "0000812568" "00025924" "90" "7637" "0" "7638" "0" "c.7637_7638del" "r.(?)" "p.(Glu2546ValfsTer9)" "" "0000812569" "00025924" "70" "6781" "0" "6781" "0" "c.6781G>T" "r.(?)" "p.(Glu2261Ter)" "" "0000812608" "00025924" "90" "5843" "0" "5843" "0" "c.5843del" "r.(?)" "p.(Ser1948MetfsTer18)" "" "0000812642" "00025924" "90" "4904" "0" "4907" "0" "c.4904_4907del" "r.(?)" "p.(Ser1635IlefsTer2)" "" "0000812643" "00025924" "90" "6158" "0" "6158" "0" "c.6158dup" "r.(?)" "p.(Pro2054AlafsTer12)" "" "0000813626" "00025924" "90" "2991" "0" "2992" "0" "c.2991_2992del" "r.(?)" "p.(Val998ThrfsTer8)" "" "0000813627" "00025924" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Gln2107Ter)" "" "0000813714" "00025924" "90" "7674" "1" "7674" "1" "c.7674+1G>T" "r.spl" "p.?" "" "0000813718" "00025924" "90" "10822" "0" "10822" "0" "c.10822C>T" "r.(?)" "p.(Arg3608Ter)" "" "0000813733" "00025924" "90" "9538" "0" "9538" "0" "c.9538C>T" "r.(?)" "p.(Arg3180Ter)" "" "0000813734" "00025924" "90" "4645" "0" "4661" "0" "c.4645_4661del" "r.(?)" "p.(Arg1549TrpfsTer4)" "" "0000813781" "00025924" "90" "3899" "0" "3899" "0" "c.3899C>A" "r.(?)" "p.(Ser1300Ter)" "" "0000813783" "00025924" "90" "10465" "0" "10465" "0" "c.10465del" "r.(?)" "p.(His3489ThrfsTer19)" "" "0000813979" "00025924" "90" "3343" "0" "3343" "0" "c.3343del" "r.(?)" "p.(His1115IlefsTer7)" "8" "0000813982" "00025924" "90" "6302" "0" "6302" "0" "c.6302C>T" "r.(?)" "p.(Ser2101Leu)" "" "0000813985" "00025924" "50" "8033" "0" "8033" "0" "c.8033C>T" "r.(?)" "p.(Pro2678Leu)" "" "0000813989" "00025924" "90" "10882" "0" "10882" "0" "c.10882C>T" "r.(?)" "p.(Arg3628Ter)" "" "0000813996" "00025924" "90" "1727" "0" "1727" "0" "c.1727C>G" "r.(?)" "p.(Ser576Ter)" "" "0000814495" "00025924" "50" "75" "0" "77" "0" "c.75_77dup" "r.(?)" "p.(Glu28dup)" "" "0000814819" "00025924" "90" "6676" "0" "6676" "0" "c.6676C>T" "r.(?)" "p.(Gln2226Ter)" "1" "0000815058" "00025924" "90" "9050" "0" "9050" "0" "c.9050del" "r.(?)" "p.(Asn3017IlefsTer14)" "10" "0000815059" "00025924" "90" "11313" "0" "11316" "0" "c.11313_11316del" "r.(?)" "p.(Glu3772TrpfsTer18)" "16" "0000815060" "00025924" "90" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.(Gln766Ter)" "" "0000815061" "00025924" "90" "6826" "0" "6827" "0" "c.6826_6827insA" "r.(?)" "p.(Arg2276GlnfsTer15)" "8" "0000816079" "00025924" "70" "11648" "0" "11649" "0" "c.11648_11649insGTTA" "r.(?)" "p.(Asn3884LeufsTer9)" "" "0000816410" "00025924" "70" "833" "0" "834" "0" "c.833_834del" "r.(?)" "p.(Phe278SerfsTer16)" "" "0000817415" "00025924" "70" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(His382Tyr)" "" "0000817907" "00025924" "90" "6302" "0" "6302" "0" "c.6302C>A" "r.(?)" "p.(Ser2101Ter)" "" "0000818187" "00025924" "90" "2819" "0" "2819" "0" "c.2819T>A" "r.(?)" "p.(Leu940Ter)" "8" "0000818196" "00025924" "90" "8779" "0" "8779" "0" "c.8779C>T" "r.(?)" "p.(Arg2927Ter)" "10" "0000819021" "00025924" "70" "2758" "0" "2758" "0" "c.2758C>T" "r.(?)" "p.(Gln920Ter)" "" "0000819022" "00025924" "70" "6148" "0" "6148" "0" "c.6148C>T" "r.(?)" "p.(Gln2050Ter)" "" "0000819023" "00025924" "70" "8779" "0" "8779" "0" "c.8779C>T" "r.(?)" "p.(Arg2927Ter)" "" "0000819033" "00025924" "70" "6148" "0" "6148" "0" "c.6148C>T" "r.(?)" "p.(Gln2050Ter)" "" "0000819678" "00025924" "70" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Glu322Ter)" "" "0000819679" "00025924" "70" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Glu322Ter)" "" "0000819817" "00025924" "70" "8779" "0" "8779" "0" "c.8779C>T" "r.(?)" "p.(Arg2927Ter)" "" "0000819845" "00025924" "70" "2314" "0" "2315" "0" "c.2314_2315del" "r.(?)" "p.(Ile772PhefsTer13)" "" "0000819884" "00025924" "70" "7132" "0" "7132" "0" "c.7132C>T" "r.(?)" "p.(Leu2378Phe)" "" "0000819915" "00025924" "70" "1894" "0" "1894" "0" "c.1894dup" "r.(?)" "p.(Tyr632LeufsTer9)" "" "0000819985" "00025924" "70" "6568" "0" "6571" "0" "c.6568_6571del" "r.(?)" "p.(Ser2190MetfsTer15)" "" "0000819986" "00025924" "70" "1625" "0" "1625" "0" "c.1625T>A" "r.(?)" "p.(Leu542Ter)" "" "0000820202" "00025924" "70" "547" "0" "547" "0" "c.547del" "r.(?)" "p.(Glu183LysfsTer2)" "" "0000820697" "00025924" "70" "5142" "0" "5142" "0" "c.5142T>G" "r.(?)" "p.(Tyr1714Ter)" "" "0000820698" "00025924" "70" "5142" "0" "5142" "0" "c.5142T>G" "r.(?)" "p.(Tyr1714Ter)" "" "0000820726" "00025924" "70" "11382" "0" "11382" "0" "c.11382del" "r.(?)" "p.(Phe3794LeufsTer38)" "" "0000820733" "00025924" "70" "2308" "0" "2309" "0" "c.2308_2309del" "r.(?)" "p.(Pro770Ter)" "" "0000820759" "00025924" "70" "6568" "0" "6571" "0" "c.6568_6571del" "r.(?)" "p.(Ser2190MetfsTer15)" "" "0000820776" "00025924" "70" "7786" "0" "7786" "0" "c.7786C>T" "r.(?)" "p.(Gln2596Ter)" "" "0000820777" "00025924" "70" "10146" "0" "10146" "0" "c.10146dup" "r.(?)" "p.(Ser3383GlnfsTer7)" "" "0000820840" "00025924" "70" "6302" "0" "6302" "0" "c.6302C>A" "r.(?)" "p.(Ser2101Ter)" "" "0000821153" "00025924" "70" "2955" "0" "2956" "0" "c.2955_2956insCTATTCTGGACTG" "r.(?)" "p.(Gly986LeufsTer8)" "" "0000821456" "00025924" "70" "1732" "0" "1732" "0" "c.1732del" "r.(?)" "p.(Arg578GlyfsTer17)" "" "0000823224" "00025924" "50" "568" "0" "568" "0" "c.568C>A" "r.(?)" "p.(Leu190Met)" "" "0000823225" "00025924" "50" "2819" "0" "2819" "0" "c.2819T>A" "r.(?)" "p.(Leu940Ter)" "" "0000823226" "00025924" "50" "6302" "0" "6302" "0" "c.6302C>A" "r.(?)" "p.(Ser2101Ter)" "" "0000823274" "00025924" "50" "10480" "0" "10480" "0" "c.10480C>T" "r.(?)" "p.(Gln3494Ter)" "" "0000823275" "00025924" "50" "8161" "0" "8161" "0" "c.8161C>T" "r.(?)" "p.(Arg2721Ter)" "" "0000824277" "00025924" "90" "10972" "0" "10972" "0" "c.10972C>T" "r.(?)" "p.(Arg3658Ter)" "" "0000824288" "00025924" "90" "4566" "0" "4566" "0" "c.4566dup" "r.(?)" "p.(Tyr1523LeufsTer5)" "" "0000825762" "00025924" "70" "9158" "0" "9159" "0" "c.9158_9159del" "r.(?)" "p.(Pro3053GlnfsTer8)" "10" "0000825763" "00025924" "90" "10822" "0" "10822" "0" "c.10822C>T" "r.(?)" "p.(Arg3608Ter)" "" "0000826297" "00025924" "70" "3899" "0" "3899" "0" "c.3899C>A" "r.(?)" "p.(Ser1300Ter)" "8" "0000826298" "00025924" "90" "7840" "0" "7846" "0" "c.7840_7846del" "r.(?)" "p.(Arg2614GlyfsTer18)" "" "0000826992" "00025924" "90" "7545" "0" "7545" "0" "c.7545G>A" "r.(?)" "p.(Trp2515Ter)" "" "0000826993" "00025924" "70" "7545" "0" "7545" "0" "c.7545G>A" "r.(?)" "p.(Trp2515Ter)" "" "0000828490" "00025924" "70" "2663" "0" "2663" "0" "c.2663C>G" "r.(?)" "p.(Ser888Ter)" "" "0000828491" "00025924" "70" "0" "0" "0" "0" "c.(?_11668+196)_*313{0}" "r.?" "p.?" "" "0000828542" "00025924" "50" "9911" "0" "9911" "0" "c.9911C>G" "r.(?)" "p.(Ser3304Cys)" "" "0000828736" "00025924" "90" "5025" "0" "5025" "0" "c.5025C>G" "r.(?)" "p.(Tyr1675Ter)" "" "0000828743" "00025924" "90" "7531" "0" "7531" "0" "c.7531C>T" "r.(?)" "p.(Arg2511Ter)" "" "0000828941" "00025924" "90" "10828" "0" "10829" "0" "c.10828_10829del" "r.(?)" "p.(Arg3610AlafsTer6)" "" "0000828948" "00025924" "90" "11113" "0" "11131" "0" "c.11113_11131del" "r.(?)" "p.(Arg3705LeufsTer11)" "" "0000849993" "00025924" "30" "103" "0" "105" "0" "c.103_105dup" "r.(?)" "p.(Ala35dup)" "" "0000849994" "00025924" "30" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(Ala82=)" "" "0000849996" "00025924" "30" "1899" "0" "1899" "0" "c.1899A>G" "r.(?)" "p.(Gln633=)" "" "0000849997" "00025924" "90" "2294" "0" "2294" "0" "c.2294C>G" "r.(?)" "p.(Ser765*)" "" "0000850000" "00025924" "50" "3596" "0" "3596" "0" "c.3596G>A" "r.(?)" "p.(Gly1199Asp)" "" "0000850001" "00025924" "10" "3936" "0" "3936" "0" "c.3936T>C" "r.(?)" "p.(Asn1312=)" "" "0000850003" "00025924" "50" "5828" "0" "5828" "0" "c.5828G>A" "r.(?)" "p.(Arg1943His)" "" "0000850006" "00025924" "30" "6506" "0" "6506" "0" "c.6506C>T" "r.(?)" "p.(Ser2169Leu)" "" "0000850007" "00025924" "30" "6669" "0" "6669" "0" "c.6669A>G" "r.(?)" "p.(Leu2223=)" "" "0000850008" "00025924" "90" "7102" "0" "7103" "0" "c.7102_7103del" "r.(?)" "p.(Ser2368Glnfs*11)" "" "0000850011" "00025924" "30" "8040" "0" "8040" "0" "c.8040G>T" "r.(?)" "p.(Leu2680=)" "" "0000850012" "00025924" "30" "8779" "0" "8779" "0" "c.8779C>A" "r.(?)" "p.(Arg2927=)" "" "0000850013" "00025924" "30" "9231" "0" "9231" "0" "c.9231G>A" "r.(?)" "p.(Ala3077=)" "" "0000850014" "00025924" "50" "9728" "0" "9728" "0" "c.9728A>G" "r.(?)" "p.(Lys3243Arg)" "" "0000850015" "00025924" "30" "10213" "12" "10213" "12" "c.10213+12G>A" "r.(=)" "p.(=)" "" "0000850018" "00025924" "30" "11547" "17" "11547" "21" "c.11547+17_11547+21del" "r.(=)" "p.(=)" "" "0000850020" "00025924" "30" "12298" "5" "12298" "5" "c.12298+5G>A" "r.spl?" "p.?" "" "0000850021" "00025924" "10" "12362" "16" "12362" "17" "c.12362+16_12362+17del" "r.(=)" "p.(=)" "" "0000850022" "00025924" "10" "12362" "18" "12362" "18" "c.12362+18A>T" "r.(=)" "p.(=)" "" "0000858675" "00025924" "30" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Gly101Asp)" "" "0000858676" "00025924" "30" "611" "0" "611" "0" "c.611A>C" "r.(?)" "p.(Glu204Ala)" "" "0000858677" "00025924" "30" "717" "0" "717" "0" "c.717G>A" "r.(?)" "p.(Ala239=)" "" "0000858680" "00025924" "30" "3255" "0" "3255" "0" "c.3255G>T" "r.(?)" "p.(Gln1085His)" "" "0000858683" "00025924" "50" "4339" "0" "4339" "0" "c.4339C>G" "r.(?)" "p.(His1447Asp)" "" "0000858684" "00025924" "30" "4344" "0" "4344" "0" "c.4344A>G" "r.(?)" "p.(Leu1448=)" "" "0000858685" "00025924" "30" "4400" "0" "4400" "0" "c.4400G>T" "r.(?)" "p.(Gly1467Val)" "" "0000858686" "00025924" "50" "4730" "0" "4730" "0" "c.4730C>T" "r.(?)" "p.(Pro1577Leu)" "" "0000858687" "00025924" "50" "5165" "0" "5165" "0" "c.5165A>G" "r.(?)" "p.(Tyr1722Cys)" "" "0000858691" "00025924" "30" "9112" "0" "9114" "0" "c.9112_9114del" "r.(?)" "p.(Pro3038del)" "" "0000858694" "00025924" "30" "10238" "0" "10238" "0" "c.10238A>G" "r.(?)" "p.(Glu3413Gly)" "" "0000858695" "00025924" "50" "11167" "0" "11167" "0" "c.11167A>G" "r.(?)" "p.(Lys3723Glu)" "" "0000858698" "00025924" "30" "11685" "0" "11685" "0" "c.11685G>A" "r.(?)" "p.(Val3895=)" "" "0000880870" "00025924" "70" "5820" "0" "5820" "0" "c.5820C>A" "r.(?)" "p.(Tyr1940Ter)" "" "0000881116" "00025924" "70" "1529" "0" "1529" "0" "c.1529T>A" "r.(?)" "p.(Leu510Ter)" "" "0000885368" "00025924" "30" "650" "0" "650" "0" "c.650T>C" "r.(?)" "p.(Ile217Thr)" "" "0000885369" "00025924" "30" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Pro240Ser)" "" "0000885371" "00025924" "30" "901" "0" "901" "0" "c.901A>C" "r.(?)" "p.(Ile301Leu)" "" "0000885376" "00025924" "90" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Gln1299*)" "" "0000885379" "00025924" "30" "4204" "0" "4204" "0" "c.4204A>G" "r.(?)" "p.(Thr1402Ala)" "" "0000885383" "00025924" "30" "8016" "0" "8016" "0" "c.8016C>T" "r.(?)" "p.(Phe2672=)" "" "0000885391" "00025924" "90" "11990" "0" "11990" "0" "c.11990G>A" "r.(?)" "p.(Trp3997*)" "" "0000896684" "00025924" "90" "7531" "0" "7531" "0" "c.7531C>T" "r.(?)" "p.(Arg2511Ter)" "" "0000896685" "00025924" "90" "11107" "0" "11125" "0" "c.11107_11125del" "r.(?)" "p.(Ala3703LeufsTer13)" "" "0000896717" "00025924" "90" "5025" "0" "5025" "0" "c.5025C>G" "r.(?)" "p.(Tyr1675Ter)" "" "0000896718" "00025924" "90" "10828" "0" "10829" "0" "c.10828_10829del" "r.(?)" "p.(Arg3610AlafsTer6)" "" "0000905849" "00025924" "90" "1196" "0" "1202" "0" "c.1196_1202del" "r.(?)" "p.(Thr399LysfsTer11)" "" "0000905850" "00025924" "90" "8453" "0" "8814" "0" "c.8453_8814del" "r.(?)" "p.(Thr2818ArgfsTer29)" "" "0000911775" "00025924" "50" "2775" "0" "2775" "0" "c.2775dup" "r.(?)" "p.(Leu926Serfs*4)" "" "0000911777" "00025924" "70" "7672" "0" "7672" "0" "c.7672A>T" "r.(?)" "p.(Lys2558*)" "" "0000923776" "00025924" "30" "3305" "0" "3305" "0" "c.3305A>C" "r.(?)" "p.(Lys1102Thr)" "" "0000923778" "00025924" "30" "8779" "0" "8779" "0" "c.8779C>A" "r.(?)" "p.(Arg2927=)" "" "0000923779" "00025924" "50" "11713" "0" "11713" "0" "c.11713G>A" "r.(?)" "p.(Val3905Ile)" "" "0000923780" "00025924" "30" "11958" "0" "11958" "0" "c.11958C>T" "r.(?)" "p.(Ser3986=)" "" "0000928655" "00025924" "30" "2122" "0" "2122" "0" "c.2122A>G" "r.(?)" "p.(Thr708Ala)" "" "0000933808" "00025924" "90" "10972" "0" "10972" "0" "c.10972C>T" "r.(?)" "p.(Arg3658Ter)" "" "0000933809" "00025924" "90" "1727" "0" "1727" "0" "c.1727C>G" "r.(?)" "p.(Ser576Ter)" "" "0000947964" "00025924" "50" "738" "0" "738" "0" "c.738A>C" "r.(?)" "p.(Gln246His)" "" "0000947965" "00025924" "30" "1338" "19" "1338" "19" "c.1338+19A>G" "r.(=)" "p.(=)" "" "0000947966" "00025924" "90" "2643" "0" "2643" "0" "c.2643dup" "r.(?)" "p.(Glu882*)" "" "0000947969" "00025924" "90" "7757" "0" "7758" "0" "c.7757_7758del" "r.(?)" "p.(Cys2586Phefs*7)" "" "0000947970" "00025924" "30" "9594" "0" "9594" "0" "c.9594T>C" "r.(?)" "p.(Ser3198=)" "" "0000947971" "00025924" "30" "12298" "5" "12298" "5" "c.12298+5G>A" "r.spl?" "p.?" "" "0000959043" "00025924" "70" "11382" "0" "11382" "0" "c.11382del" "r.(?)" "p.(Phe3794LeufsTer38)" "" "0000962284" "00025924" "50" "2038" "0" "2038" "0" "c.2038C>G" "r.(?)" "p.(Arg680Gly)" "" "0000962288" "00025924" "50" "11429" "0" "11429" "0" "c.11429G>A" "r.(?)" "p.(Ser3810Asn)" "" "0000962289" "00025924" "30" "11668" "12" "11668" "12" "c.11668+12A>C" "r.(=)" "p.(=)" "" "0000975408" "00025924" "30" "1353" "0" "1353" "0" "c.1353G>A" "r.(?)" "p.(Ser451=)" "" "0000975409" "00025924" "90" "5142" "0" "5142" "0" "c.5142T>G" "r.(?)" "p.(Tyr1714*)" "" "0000975410" "00025924" "50" "6151" "0" "6151" "0" "c.6151A>G" "r.(?)" "p.(Thr2051Ala)" "" "0000975412" "00025924" "70" "10384" "1" "10384" "1" "c.10384+1G>A" "r.spl?" "p.?" "" "0000975413" "00025924" "50" "11761" "0" "11761" "0" "c.11761G>A" "r.(?)" "p.(Glu3921Lys)" "" "0000975414" "00025924" "30" "12298" "5" "12298" "5" "c.12298+5G>A" "r.spl?" "p.?" "" "0000987862" "00025924" "90" "5283" "0" "5283" "0" "c.5283del" "r.?" "p.(His1761GlnfsTer18)" "" "0000987863" "00025924" "70" "11817" "0" "11817" "0" "c.11817dup" "r.(11817dup)" "p.(Thr3940TyrfsTer5)" "" "0000993002" "00025924" "30" "668" "0" "668" "0" "c.668C>A" "r.(?)" "p.(Ser223Tyr)" "" "0000993003" "00025924" "50" "1433" "-2" "1433" "-2" "c.1433-2A>G" "r.spl?" "p.?" "" "0000993004" "00025924" "50" "3977" "0" "3977" "0" "c.3977T>C" "r.(?)" "p.(Ile1326Thr)" "" "0000993005" "00025924" "50" "4244" "0" "4244" "0" "c.4244G>A" "r.(?)" "p.(Gly1415Asp)" "" "0000993006" "00025924" "50" "10817" "0" "10817" "0" "c.10817G>A" "r.(?)" "p.(Arg3606Gln)" "" "0001017273" "00025924" "90" "10772" "0" "10772" "0" "c.10772del" "r.(?)" "p.(Thr3591LysfsTer6)" "" "0001017274" "00025924" "30" "11547" "138" "11547" "138" "c.11547+138G>A" "r.(?)" "p.(=)" "" "0001033463" "00025924" "50" "57" "0" "74" "0" "c.57_74dup" "r.(?)" "p.(Glu23_Glu28dup)" "" "0001033465" "00025924" "30" "4291" "0" "4291" "0" "c.4291C>A" "r.(?)" "p.(His1431Asn)" "" "0001033467" "00025924" "30" "5118" "0" "5118" "0" "c.5118A>G" "r.(?)" "p.(Ser1706=)" "" "0001033468" "00025924" "70" "6839" "0" "6839" "0" "c.6839del" "r.(?)" "p.(Pro2280Leufs*63)" "" "0001033470" "00025924" "50" "7540" "3" "7540" "3" "c.7540+3A>G" "r.spl?" "p.?" "" "0001033471" "00025924" "50" "9867" "0" "9867" "0" "c.9867G>A" "r.(?)" "p.(Pro3289=)" "" "0001033472" "00025924" "50" "10973" "0" "10973" "0" "c.10973G>A" "r.(?)" "p.(Arg3658Gln)" "" "0001033475" "00025924" "50" "12208" "0" "12208" "0" "c.12208A>C" "r.(?)" "p.(Ser4070Arg)" "" "0001048002" "00025924" "30" "57" "0" "74" "0" "c.57_74dup" "r.(?)" "p.(Glu23_Glu28dup)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 208 "{{screeningid}}" "{{variantid}}" "0000034590" "0000061694" "0000046563" "0000074348" "0000050622" "0000079602" "0000050622" "0000079696" "0000073325" "0000116964" "0000081135" "0000130221" "0000100502" "0000735188" "0000155813" "0000356893" "0000155813" "0000356894" "0000156245" "0000358167" "0000206397" "0000435949" "0000208517" "0000438392" "0000208517" "0000438393" "0000208654" "0000438627" "0000289376" "0000645305" "0000293991" "0000650680" "0000293992" "0000650681" "0000293993" "0000650682" "0000293994" "0000650683" "0000293995" "0000650684" "0000293996" "0000650685" "0000293997" "0000650686" "0000293998" "0000650687" "0000293999" "0000650688" "0000296471" "0000653160" "0000305963" "0000669651" "0000305964" "0000669652" "0000309618" "0000684491" "0000309619" "0000684492" "0000310090" "0000685001" "0000310091" "0000685002" "0000310092" "0000685003" "0000310093" "0000685004" "0000325718" "0000710804" "0000325861" "0000709015" "0000326636" "0000710228" "0000326636" "0000710336" "0000329506" "0000713629" "0000330064" "0000714571" "0000330064" "0000714572" "0000332948" "0000730335" "0000332949" "0000730336" "0000332949" "0000730356" "0000332950" "0000730337" "0000332950" "0000730357" "0000333507" "0000731161" "0000333507" "0000731181" "0000334585" "0000732484" "0000360038" "0000759703" "0000360060" "0000759738" "0000360060" "0000759739" "0000360150" "0000759848" "0000360150" "0000759878" "0000363062" "0000763478" "0000363064" "0000763480" "0000363066" "0000763482" "0000363310" "0000763887" "0000363311" "0000763888" "0000363311" "0000763969" "0000363312" "0000763889" "0000363313" "0000763890" "0000363313" "0000763970" "0000363314" "0000763891" "0000363314" "0000763971" "0000364149" "0000764911" "0000364839" "0000765781" "0000364857" "0000765799" "0000364861" "0000765803" "0000364892" "0000765834" "0000364932" "0000765874" "0000373732" "0000783898" "0000373734" 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