### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CC2D2A)
# 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}}"
"CC2D2A"	"coiled-coil and C2 domain containing 2A"	"4"	"p15.33"	"unknown"	"LRG_697"	"UD_132118672363"	""	"https://www.LOVD.nl/CC2D2A"	"Finnish Disease Database (FinDis) <http://www.findis.org/>"	"1"	"29253"	"57545"	"612013"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/CC2D2A_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00008"	"2012-02-13 00:00:00"	"00006"	"2023-11-28 15:37:08"	"00006"	"2025-11-13 13:04:16"


## 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}}"
"00000244"	"CC2D2A"	"transcript variant 1"	"001"	"NM_001080522.2"	""	"NP_001073991.2"	""	""	""	"-245"	"4995"	"4863"	"15471489"	"15603180"	"00008"	"2012-06-27 09:30:48"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 17
"{{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"	""	""
"00002"	"JBTS1"	"Joubert syndrome, type 1 (JBTS1)"	"AR"	"213300"	""	""	""	"00006"	"2012-05-17 22:47:36"	"00006"	"2021-12-10 21:51:32"
"00076"	"COACH"	"COACH syndrome"	"AR"	"216360"	""	""	""	"00015"	"2012-11-09 15:02:45"	"00006"	"2021-12-10 21:51:32"
"00078"	"MKS1"	"Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome)"	"AR"	"249000"	""	""	""	"00015"	"2012-11-09 15:11:48"	"00006"	"2021-12-10 21:51:32"
"00081"	"MKS6"	"Meckel syndrome, type 6"	"AR"	"612284"	""	""	""	"00015"	"2012-11-09 15:23:18"	"00006"	"2023-11-30 09:01:07"
"00082"	"JBTS9"	"Joubert syndrome, type 9 (JBTS-9)"	"AR"	"612285"	""	""	""	"00015"	"2012-11-09 15:25:03"	"00006"	"2021-12-10 21:51:32"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"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"
"04210"	"LCA"	"Leber congenital amaurosis (LCA)"	""	""	""	""	""	"00006"	"2015-02-27 18:57:11"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04250"	"-"	"retinal degeneration"	""	""	""	""	""	"00006"	"2015-05-04 22:12:01"	""	""
"05109"	"JBTS"	"Joubert syndrome (JBTS)"	""	""	""	""	""	"00006"	"2016-01-09 00:37:44"	""	""
"05517"	"skeletal dysplasia"	"dysplasia, skeletal"	""	""	""	""	""	"00006"	"2018-11-16 16:43:21"	""	""
"05578"	"MKS"	"Meckel syndrome (MKS, Meckel-Gruber syndrome)"	""	""	""	""	""	"00006"	"2019-02-22 22:26:27"	"00006"	"2021-12-10 21:51:32"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"06962"	"RP93"	"retinitis pigmentosa, type 93"	"AR"	"619845"	""	""	""	"00006"	"2022-09-18 13:41:32"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{geneid}}"	"{{diseaseid}}"
"CC2D2A"	"00076"
"CC2D2A"	"00081"
"CC2D2A"	"00082"
"CC2D2A"	"00112"
"CC2D2A"	"00139"
"CC2D2A"	"05578"
"CC2D2A"	"06962"


## Individuals ## Do not remove or alter this header ##
## Count = 192
"{{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}}"
"00028922"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-34 Pat11"
"00033091"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033119"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00050650"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected sibling(s)"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00056050"	""	""	""	"1"	""	"00552"	"{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00056051"	""	""	""	"1"	""	"00552"	"{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00081080"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"no information from parents"	""	""	""	""	"0"	""	""	""	""
"00225714"	""	""	""	"1"	""	"00006"	"{PMID:Shaheen 2013:23169490}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"23169490-FamMKS_F3"
"00225715"	""	""	""	"1"	""	"00006"	"{PMID:Shaheen 2013:23169490}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"23169490-FamMKS_F5"
"00225716"	""	""	""	"1"	""	"00006"	"{PMID:Shaheen 2013:23169490}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"23169490-FamMKS_F8"
"00225717"	""	""	""	"1"	""	"00006"	"{PMID:Shaheen 2013:23169490}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"23169490-FamMKS_F10"
"00225718"	""	""	""	"1"	""	"00006"	"{PMID:Shaheen 2013:23169490}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"23169490-FamMKS_F12"
"00225719"	""	""	""	"1"	""	"00006"	"{PMID:Shaheen 2013:23169490}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"23169490-FamMKS_F14"
"00225726"	""	""	""	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 1 affected"	""	"no"	"Algeria"	""	"0"	""	""	""	"19777577-FamJBS1PatJBS-006"
"00225727"	""	""	""	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 1 affected"	""	"no"	"France"	""	"0"	""	""	""	"19777577-FamJBS2PatJBS-008"
"00225728"	""	""	""	"4"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 4 fetuses"	""	"yes"	"Algeria"	"<0d"	"0"	""	""	""	"19777577-FamMKS1PatMKS-84D"
"00225729"	""	""	"00225728"	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	"yes"	"Algeria"	"<0d"	"0"	""	""	""	"19777577-FamMKS1PatMKS-84A"
"00225730"	""	""	"00225728"	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	"yes"	"Algeria"	"<0d"	"0"	""	""	""	"19777577-FamMKS1PatMKS-84B"
"00225731"	""	""	"00225728"	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	"yes"	"Algeria"	"<0d"	"0"	""	""	""	"19777577-FamMKS1PatMKS-84C"
"00225732"	""	""	""	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 1 fetus"	""	"yes"	"Mauritania"	"<0d"	"0"	""	""	""	"19777577-FamMKS2PatMKS-54"
"00225733"	""	""	""	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 1 fetus"	""	"yes"	"France"	"<0d"	"0"	""	""	""	"19777577-FamMKS3PatMKS-160"
"00225734"	""	""	""	"3"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 3 fetuses"	""	"yes"	"Turkey"	"<0d"	"0"	""	""	""	"19777577-FamMKS4PatMKS-410"
"00225735"	""	""	"00225734"	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	"yes"	"Turkey"	"<0d"	"0"	""	""	""	"19777577-FamMKS4PatMKS-413"
"00225736"	""	""	"00225734"	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	"yes"	"Turkey"	"<0d"	"0"	""	""	""	"19777577-FamMKS4PatMKS-414"
"00225737"	""	""	""	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 1 fetus"	""	"yes"	"Turkey"	"<0d"	"0"	""	""	""	"19777577-FamMKS5PatMKS-977"
"00225738"	""	""	""	"2"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 2 fetuses"	""	"no"	"Guadeloupe"	"<0d"	"0"	""	""	""	"19777577-FamMKS6PatMKS-010"
"00225739"	""	""	"00225738"	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	"no"	"Guadeloupe"	"<0d"	"0"	""	""	""	"19777577-FamMKS6PatMKS-011"
"00225740"	""	""	""	"2"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 2 fetuses"	""	"no"	"France"	"<0d"	"0"	""	""	""	"19777577-FamMKS7PatMKS-142"
"00225741"	""	""	"00225740"	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	"no"	"France"	"<0d"	"0"	""	""	""	"19777577-FamMKS7PatMKS-143"
"00225742"	""	""	""	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 1 fetus"	""	"no"	"France"	"<0d"	"0"	""	""	""	"19777577-FamMKS8PatMKS-982"
"00225743"	""	""	""	"4"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 4 fetuses"	""	"no"	"France"	"<0d"	"0"	""	""	""	"19777577-FamMKS9PatMKS-362"
"00225744"	""	""	"00225743"	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	"no"	"France"	"<0d"	"0"	""	""	""	"19777577-FamMKS9PatMKS-363"
"00225745"	""	""	"00225743"	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	"no"	"France"	"<0d"	"0"	""	""	""	"19777577-FamMKS9PatMKS-364"
"00225746"	""	""	"00225743"	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	"no"	"France"	"<0d"	"0"	""	""	""	"19777577-FamMKS9PatMKS-365"
"00225747"	""	""	""	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 1 fetus"	""	"no"	""	"<0d"	"0"	""	""	""	"19777577-FamMKS10PatMKS-987"
"00225748"	""	""	""	"1"	""	"00006"	"{PMID:Mougou-Zerelli 2009:19777577}"	"family, 1 fetus"	""	"no"	"United States"	"<0d"	"0"	""	""	""	"19777577-FamMKS11PatMKS-692"
"00269435"	""	""	""	"1"	""	"03508"	""	""	""	""	""	""	"0"	""	""	""	""
"00289350"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00293561"	""	""	""	"8"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293562"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293563"	""	""	""	"20"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293564"	""	""	""	"177"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293565"	""	""	""	"16"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293568"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293569"	""	""	""	"6"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293570"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295311"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00296863"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00304986"	""	""	""	"6"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00327463"	""	""	""	"2"	""	"03980"	"Doucette 2021, Submitted"	"Affected sister in a 4 member family. Brother is reportedly affected however we were unable to examine him. Parents are both unaffected, presuming recessive inheritance pattern."	"F"	""	"Canada"	""	""	"Yes"	""	"Middle eastern origin"	"M69 II-1"
"00331346"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"12DG1875"
"00331347"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"M"	"yes"	""	""	"0"	""	""	"Arab"	"13DG0083"
"00331348"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family"	"M"	"yes"	""	""	"0"	""	""	"Arab"	"15DG1758"
"00335962"	""	""	""	"21"	""	"00000"	"{PMID:Sergouniotis 2016:27628848}"	"analysis 486 cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00363395"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2015:26747767}"	"proband"	""	""	"China"	""	"0"	""	""	""	"HM608"
"00363402"	""	""	""	"2"	""	"00000"	"{PMID:Sun 2015:26747767}"	"healthy control"	""	""	"China"	""	"0"	""	""	""	"control"
"00363545"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam379Pat978,379"
"00363546"	""	""	""	"2"	""	"00000"	"{PMID:Srour 2015:26477546}"	"family, 2 affected"	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam385Pat994,385"
"00363547"	""	""	"00363546"	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	"relative"	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam385Pat1303,385"
"00363548"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam447Pat1223,447"
"00363549"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam415Pat1123,415"
"00363550"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam473Pat1295,473"
"00363551"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam484Pat1332,484"
"00363552"	""	""	""	"2"	""	"00000"	"{PMID:Srour 2015:26477546}"	"family, 2 affected"	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam488Pat1342,488"
"00363553"	""	""	"00363552"	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	"relative"	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam488Pat1343,488"
"00363554"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam492Pat1356,492"
"00363555"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam572Pat1610,572"
"00372184"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW036-3"
"00372185"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW041-3"
"00372186"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW046-1"
"00372187"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW046-2"
"00372188"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW047-3"
"00372189"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW048-3"
"00372190"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW049-3"
"00372191"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW050-3"
"00372192"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW050-6"
"00372193"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW075-3"
"00372194"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW076-3"
"00372195"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW079-3"
"00372196"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW079-4"
"00372197"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW080-3"
"00372198"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW081-3"
"00372199"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW088-3"
"00372200"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW088-4"
"00372201"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW102-3"
"00372202"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW104-3"
"00372203"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW204-3"
"00372204"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW260-3"
"00372205"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW262-3"
"00372206"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW265-3"
"00372207"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW265-4"
"00372208"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW267-3"
"00372209"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW267-4"
"00372210"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW271-3"
"00372211"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW275-3"
"00372212"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW287-3"
"00372213"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW288-3"
"00372214"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW296-3"
"00372215"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW296-4"
"00372216"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW301-3"
"00372217"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW302-3"
"00372218"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW302-4"
"00372219"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW307-3"
"00372220"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW308-3"
"00372221"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW312-3"
"00372222"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW315-3"
"00372373"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW082-3"
"00372374"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW249-3"
"00372375"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW320-3"
"00373383"	""	""	""	"1"	""	"00000"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-47"
"00373392"	""	""	""	"1"	""	"00000"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"2-38"
"00373400"	""	""	""	"1"	""	"00000"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-37"
"00374649"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4871"
"00374679"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-452"
"00375410"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#001"
"00377637"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 29"	"F"	""	"United States"	""	"0"	""	""	""	"378"
"00377638"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 30"	"F"	""	"United States"	""	"0"	""	""	""	"483"
"00377639"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 31"	"F"	""	"United States"	""	"0"	""	""	""	"575"
"00377640"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 34"	"M"	""	"United States"	""	"0"	""	""	""	"185"
"00377641"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 33"	"M"	""	"United States"	""	"0"	""	""	""	"446"
"00377642"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 32"	"M"	""	"United States"	""	"0"	""	""	""	"495"
"00377643"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 35"	"F"	""	"United States"	""	"0"	""	""	""	"577"
"00377644"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 36"	"F"	""	"United States"	""	"0"	""	""	""	"565"
"00377645"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 35"	"F"	""	"United States"	""	"0"	""	""	""	"576"
"00377646"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 37"	"F"	""	"United States"	""	"0"	""	""	""	"364"
"00377766"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	"heterozygous mutation identified in father"	""	""	"United States"	""	"0"	""	""	""	""
"00377770"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00377772"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	"heterozygous mutation identified in father"	""	""	"Germany"	""	"0"	""	""	""	""
"00377773"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00377774"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00377787"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	"no"	"Egypt"	""	"0"	""	""	""	""
"00377789"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	"no"	"France"	""	"0"	""	""	""	""
"00377790"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	"yes"	""	""	"0"	""	""	"Arab"	""
"00377791"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	"0"	"Pakistan"	""	"0"	""	""	"Pakistani"	""
"00377792"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00379625"	""	""	""	"1"	""	"00000"	"{PMID:Nishiguchi-2012:22848652}"	""	""	""	""	""	"0"	""	""	"Yoruba"	""
"00379658"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0041"
"00385445"	""	""	""	"1"	""	"00006"	"{PMID:Takenouchi 2017:28374938}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Japan"	""	"0"	""	""	""	"patient"
"00387418"	""	""	""	"1"	""	"00000"	"{PMID:Devi 2020:32139166}"	"Family 8"	"?"	""	"India"	""	"0"	""	""	""	"8"
"00387541"	""	""	""	"1"	""	"00000"	"{PMID:Knopp 2015:26003401}"	""	"F"	"yes"	""	""	"0"	""	""	""	""
"00387542"	""	""	""	"1"	""	"00000"	"{PMID:Knopp 2015:26003401}"	""	"F"	"yes"	""	""	"0"	""	""	""	""
"00387574"	""	""	""	"1"	""	"00000"	"{PMID:Knopp 2015:26003401}"	""	""	"yes"	""	""	"0"	""	""	""	""
"00387575"	""	""	""	"1"	""	"00000"	"{PMID:Knopp 2015:26003401}"	""	""	"yes"	""	""	"0"	""	""	""	""
"00387601"	""	""	""	"1"	""	"00000"	"{PMID:Watson 2016:26729329}"	""	""	""	""	""	"0"	""	""	""	""
"00387602"	""	""	""	"1"	""	"00000"	"{PMID:Watson 2016:26729329}"	""	""	""	""	""	"0"	""	""	""	""
"00388077"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"364"
"00388089"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"446"
"00388102"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"483"
"00388105"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"495"
"00388131"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"565"
"00388135"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"575"
"00388136"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"576"
"00388137"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"577"
"00388146"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"3"
"00390838"	""	""	""	"1"	""	"00000"	"{PMID:Toma-2018:29987673}"	""	"M"	""	""	""	"0"	""	""	"Italian"	""
"00395593"	""	""	""	"1"	""	"00000"	"{PMID:Perea-Romero 2021:34448047}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-2001"
"00398756"	""	""	""	"1"	""	"00000"	"{PMID:Mejecase 2019:30267408}"	""	"M"	"yes"	"France"	""	"0"	""	""	"Senegalese"	""
"00398757"	""	""	""	"1"	""	"00000"	"{PMID:Mejecase 2019:30267408}"	""	"M"	"yes"	"France"	""	"0"	""	""	"Senegalese"	""
"00398758"	""	""	""	"1"	""	"00000"	"{PMID:Mejecase 2019:30267408}"	""	"M"	"yes"	"France"	""	"0"	""	""	"Senegalese"	""
"00407668"	""	""	""	"1"	""	"00000"	"{PMID:Kang 2016:27491411}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"K-11"
"00407669"	""	""	""	"1"	""	"00000"	"{PMID:Kang 2016:27491411}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"K-12"
"00415250"	""	""	""	"1"	""	"00000"	"{PMID:Alfares 2018:30202406}"	""	"F"	""	""	""	"0"	""	""	""	"5"
"00417833"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2010:20671153}"	""	"?"	""	""	""	"0"	""	""	""	"MKS142"
"00428001"	""	""	""	"1"	""	"00006"	"{PMID:Bournazos 2022:34906502}"	"family, 1 affected fetus"	""	""	"Australia"	""	"0"	""	""	""	"A097"
"00431162"	""	""	""	"1"	""	"01401"	""	""	"F"	"no"	"Italy"	""	""	""	""	""	""
"00443488"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:19466712}"	""	""	""	""	""	"0"	""	""	"Europe"	"UM10"
"00443489"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:19466712}"	""	""	""	""	""	"0"	""	""	"Europe"	"UM11"
"00443490"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:19466712}"	""	""	""	""	""	"0"	""	""	"Europe"	"UM12"
"00443500"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:18513680}"	""	""	""	"Finland"	"<0d"	"0"	""	""	""	"Fetus1"
"00443501"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:18513680}"	""	""	""	"Finland"	"<0d"	"0"	""	""	""	"Fetus2"
"00443502"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:18513680}"	""	""	""	"Finland"	"<0d"	"0"	""	""	""	"Fetus3"
"00443503"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:18513680}"	""	""	""	"Finland"	"<0d"	"0"	""	""	""	"Fetus4"
"00443504"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:18513680}"	""	""	""	"Finland"	"<0d"	"0"	""	""	""	"Fetus5"
"00443505"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:18513680}"	""	""	""	"Finland"	"<0d"	"0"	""	""	""	"Fetus6"
"00443506"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:18513680}"	""	""	""	"Finland"	"<0d"	"0"	""	""	""	"Fetus7"
"00443507"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:18513680}"	""	""	""	"Finland"	"<0d"	"0"	""	""	""	"Fetus8"
"00443508"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:18513680}"	""	""	""	"Finland"	"<0d"	"0"	""	""	""	"Fetus9"
"00443509"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:18513680}"	""	""	""	"Finland"	"<0d"	"0"	""	""	""	"Fetus10"
"00443510"	""	""	""	"1"	""	"00006"	"{PMID:Tallila 2008:18513680}"	""	""	""	"Finland"	"<0d"	"0"	""	""	""	"Fetus11"
"00447962"	""	""	""	"4"	""	"00006"	"{PMID:Chia 2018:29784083}"	"2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs"	"M"	"yes"	"Jordan"	""	"0"	""	""	""	"FamPatII1"
"00447963"	""	""	"00447962"	"1"	""	"00006"	"{PMID:Chia 2018:29784083}"	"affected sister"	"F"	"yes"	"Jordan"	""	"0"	""	""	""	"FamPatII4"
"00449684"	""	""	""	"1"	""	"04682"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR528"
"00449685"	""	""	""	"1"	""	"04682"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR19"
"00449686"	""	""	""	"1"	""	"04682"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR152"
"00449687"	""	""	""	"1"	""	"04682"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR422"
"00455789"	""	""	""	"1"	""	"00006"	"{PMID:Salinas 2020:33084218}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat29"
"00460976"	""	""	""	"1"	""	"04796"	""	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00465299"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2022:35958498}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"Pat1"
"00468728"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468729"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468730"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468731"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 192
"{{individualid}}"	"{{diseaseid}}"
"00028922"	"00002"
"00033091"	"04214"
"00033119"	"04214"
"00050650"	"00198"
"00056050"	"00078"
"00056051"	"00078"
"00081080"	"00076"
"00225714"	"05578"
"00225715"	"05578"
"00225716"	"05578"
"00225717"	"05578"
"00225718"	"05578"
"00225719"	"05578"
"00225726"	"05109"
"00225727"	"05109"
"00225728"	"05578"
"00225729"	"05578"
"00225730"	"05578"
"00225731"	"05578"
"00225732"	"05578"
"00225733"	"05578"
"00225734"	"05578"
"00225735"	"05578"
"00225736"	"05578"
"00225737"	"05578"
"00225738"	"05578"
"00225739"	"05578"
"00225740"	"05578"
"00225741"	"05578"
"00225742"	"05578"
"00225743"	"05578"
"00225744"	"05578"
"00225745"	"05578"
"00225746"	"05578"
"00225747"	"05578"
"00225748"	"05578"
"00269435"	"05109"
"00289350"	"00198"
"00293561"	"00198"
"00293562"	"00198"
"00293563"	"00198"
"00293564"	"00198"
"00293565"	"00198"
"00293568"	"00198"
"00293569"	"00198"
"00293570"	"00198"
"00295311"	"00198"
"00296863"	"00198"
"00304986"	"00198"
"00327463"	"04250"
"00331346"	"05517"
"00331347"	"05517"
"00331348"	"05517"
"00335962"	"04214"
"00363395"	"04214"
"00363402"	"00000"
"00363545"	"05109"
"00363546"	"05109"
"00363547"	"05109"
"00363548"	"05109"
"00363549"	"05109"
"00363550"	"05109"
"00363551"	"05109"
"00363552"	"05109"
"00363553"	"05109"
"00363554"	"05109"
"00363555"	"05109"
"00372184"	"05109"
"00372185"	"05109"
"00372186"	"05109"
"00372187"	"05109"
"00372188"	"05109"
"00372189"	"05109"
"00372190"	"05109"
"00372191"	"05109"
"00372192"	"05109"
"00372193"	"05109"
"00372194"	"05109"
"00372195"	"05109"
"00372196"	"05109"
"00372197"	"05109"
"00372198"	"05109"
"00372199"	"05109"
"00372200"	"05109"
"00372201"	"05109"
"00372202"	"05109"
"00372203"	"05109"
"00372204"	"05109"
"00372205"	"05109"
"00372206"	"05109"
"00372207"	"05109"
"00372208"	"05109"
"00372209"	"05109"
"00372210"	"05109"
"00372211"	"05109"
"00372212"	"05109"
"00372213"	"05109"
"00372214"	"05109"
"00372215"	"05109"
"00372216"	"05109"
"00372217"	"05109"
"00372218"	"05109"
"00372219"	"05109"
"00372220"	"05109"
"00372221"	"05109"
"00372222"	"05109"
"00372373"	"05109"
"00372374"	"05109"
"00372375"	"05109"
"00373383"	"04214"
"00373392"	"04214"
"00373400"	"04214"
"00374649"	"00198"
"00374679"	"00198"
"00375410"	"04214"
"00377637"	"04214"
"00377638"	"04214"
"00377639"	"04214"
"00377640"	"04214"
"00377641"	"04214"
"00377642"	"04214"
"00377643"	"04214"
"00377644"	"04214"
"00377645"	"04214"
"00377646"	"04214"
"00377766"	"04214"
"00377770"	"04214"
"00377772"	"04214"
"00377773"	"04214"
"00377774"	"04214"
"00377787"	"04214"
"00377789"	"04214"
"00377790"	"04214"
"00377791"	"04214"
"00377792"	"04214"
"00379625"	"00000"
"00379658"	"04210"
"00385445"	"05578"
"00387418"	"05109"
"00387541"	"04214"
"00387542"	"04214"
"00387574"	"04214"
"00387575"	"04214"
"00387601"	"04214"
"00387602"	"04214"
"00388077"	"04214"
"00388089"	"04214"
"00388102"	"04214"
"00388105"	"04214"
"00388131"	"04214"
"00388135"	"04214"
"00388136"	"04214"
"00388137"	"04214"
"00388146"	"04214"
"00390838"	"04214"
"00395593"	"04214"
"00398756"	"04214"
"00398757"	"04214"
"00398758"	"04214"
"00407668"	"04214"
"00407669"	"04214"
"00415250"	"04214"
"00417833"	"04214"
"00428001"	"00198"
"00431162"	"00082"
"00443488"	"05578"
"00443489"	"05578"
"00443490"	"05578"
"00443500"	"05578"
"00443501"	"05578"
"00443502"	"05578"
"00443503"	"05578"
"00443504"	"05578"
"00443505"	"05578"
"00443506"	"05578"
"00443507"	"05578"
"00443508"	"05578"
"00443509"	"05578"
"00443510"	"05578"
"00447962"	"05611"
"00447963"	"05611"
"00449684"	"05109"
"00449685"	"05109"
"00449686"	"05109"
"00449687"	"05109"
"00455789"	"00198"
"00460976"	"00198"
"00465299"	"05109"
"00468728"	"00198"
"00468729"	"00198"
"00468730"	"00198"
"00468731"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00002, 00076, 00078, 00081, 00082, 00112, 00139, 00198, 04210, 04214, 04250, 05109, 05517, 05578, 05611, 06962
## Count = 179
"{{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}}"
"0000025018"	"00002"	"00028922"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026520"	"04214"	"00033091"	"00229"	"Unknown"	"<10y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026548"	"04214"	"00033119"	"00229"	"Unknown"	"44y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000037262"	"00198"	"00050650"	"00006"	"Unknown"	""	"poor head control, global developmental delay, cerebellar atrophy, cerebral palsy, severe visual impairment, feeding difficulties in infancy, scoliosis, microcephaly, recurrent respiratory infections, eczema"	""	""	""	""	""	""	""	""	""	""	""
"0000043074"	"00078"	"00056050"	"00006"	"Unknown"	""	"Meckel-Gruber syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000043075"	"00078"	"00056051"	"00006"	"Unknown"	""	"Meckel-Gruber syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000060649"	"00076"	"00081080"	"01758"	"Familial, autosomal recessive"	""	"COACH syndrome (OMIM:216360)"	""	""	""	""	""	""	""	""	""	""	""
"0000170823"	"05578"	"00225714"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170824"	"05578"	"00225715"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170825"	"05578"	"00225716"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170826"	"05578"	"00225717"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170827"	"05578"	"00225718"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170828"	"05578"	"00225719"	"00006"	"Familial, autosomal recessive"	""	"see pape; ..."	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170837"	"05109"	"00225726"	"00006"	"Familial, autosomal recessive"	"4y"	"cystic kidneys no characteristic of Meckel syndrome; no liver anomalies; oculomotor apraxia, myopia; ataxia, hypotonia, cerebellar vemis agenesis, mental retardation; no polydactily"	""	""	""	""	""	""	""	""	"JBTS-9"	"Joubert syndrome"	""
"0000170838"	"05109"	"00225727"	"00006"	"Familial, autosomal recessive"	"19y"	"cystic kidneys no characteristic of Meckel syndrome; no liver anomalies; oculomotor apraxia, abnormal eye movements, optic disc; ataxia, hypotonia, mental retardation, molar tooth sign; no polydactily"	""	""	""	""	""	""	""	""	"JBTS-9"	"Joubert syndrome"	""
"0000170839"	"05578"	"00225728"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 21w; cystic kidneys characteristic of Meckel syndrome; hepatic fibrosis, bile duct proliferation liver; occipital meningocele, Dandy-Walker; no polydactily; left heart hypoplasia, femoral bowing"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170840"	"05578"	"00225729"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 33w; cystic kidneys characteristic of Meckel syndrome; ; no liver anomalies; Dandy-Walker; no polydactily"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170841"	"05578"	"00225730"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 21w; cystic kidneys characteristic of Meckel syndrome; no liver anomalies; coloboma; occipital defect; no polydactily"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170842"	"05578"	"00225731"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 21w; cystic kidneys characteristic of Meckel syndrome; retinal cyst; occipital meningocele; arhinencephaly; polydactyly upper limbs; epididymal cysts"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170843"	"05578"	"00225732"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 17.5w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; optic nerve dysplasia; occipital encephalocele; polydactily upper/lower limbs; intrauterine growth retardation, cleft palate"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170844"	"05578"	"00225733"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 23w; cystic kidneys characteristic of Meckel syndrome; occipital encephalocele; polydactily upper limbs"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170845"	"05578"	"00225734"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 23w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; no ocular anomalies; occipital encephalocele, microcephaly; polydactily upper/lower limbs; cleft palate, bifide tongue, epididymal/pancreatic cysts"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170846"	"05578"	"00225735"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 11.5w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital encephalocele, microcephaly; polydactily upper/lower limbs"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170847"	"05578"	"00225736"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 12.5w; cystic kidneys characteristic of Meckel syndrome; coloboma; occipital encephalocele, microcephaly; polydactily upper/lower limbs; cleft palate"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170848"	"05578"	"00225737"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 34w; cystic kidneys; occipital encephalocele; no polydactily"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170849"	"05578"	"00225738"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 19w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele, cerebellar vemis agenesis; polydactily upper limbs; bell chest"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170850"	"05578"	"00225739"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 14w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily upper limbs"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170851"	"05578"	"00225740"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 25w; cystic kidneys characteristic of Meckel syndrome; occipital meningocele, arhinencephaly, corpus callosum agenesis, cerebellar vemis agenesis; polydactily upper/lower limbs; bicornuate uterus"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170852"	"05578"	"00225741"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 25w; cystic kidneys characteristic of Meckel syndrome; occipital meningocele, arhinencephaly, corpus callosum agenesis; polydactily upper/lower limbs; cleft palate, micropenis, femoral bowing"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170853"	"05578"	"00225742"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 13w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; vVertex M, anencephaly; polydactily upper/lower limbs; cleft palate"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170854"	"05578"	"00225743"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 20w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily upper limbs"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170855"	"05578"	"00225744"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 13w; occipital meningocele"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170856"	"05578"	"00225745"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 13w; polydactily upper limbs"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170857"	"05578"	"00225746"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 16w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170858"	"05578"	"00225747"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 15w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver, hepatic fibrosis; occipital encephalocele, corpus callosum agenesis, arhinencephaly, cerebellar vemis agenesis, hypothalamic hamrtoma; polydactily upper/lower limbs; epididymal cysts"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000170859"	"05578"	"00225748"	"00006"	"Familial, autosomal recessive"	"<0d"	"fetus 20w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; Dandy-Walker; polydactily upper/lower limbs; hypospadias, ulnar bowing, accessory spleen, gonadal dysgenesis"	""	""	""	""	""	""	""	""	"MKS-6"	"Meckel-Gruber syndrome"	""
"0000207259"	"05109"	"00269435"	"03508"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000222969"	"00198"	"00289350"	"01164"	"Unknown"	""	"Intellectual disability (HP:0001249); Neurodevelopmental abnormality (HP:0012759); Abnormal facial shape (HP:0001999); Abnormality of the face (HP:0000271)"	""	""	""	""	""	""	""	""	""	""	""
"0000224260"	"00198"	"00296863"	"01164"	"Unknown"	""	"Abnormality of central motor function (HP:0011442); Neurodevelopmental abnormality (HP:0012759); Dysmetria (HP:0001310); Specific learning disability (HP:0001328); Dysgenesis of the cerebellar vermis (HP:0002195); Abnormality of the cerebellar vermis (HP:0002334); Abnormality of midbrain morphology (HP:0002418); Molar tooth sign on MRI (HP:0002419); Abnormality of eye movement (HP:0000496)"	""	""	""	""	""	""	""	""	""	""	""
"0000245752"	"05412"	"00327463"	"03980"	"Familial, autosomal recessive"	"29y"	"Fundus findings: Circumscribed central retinal atrophy (Retinal atrophy HP:0001105)\r\n\r\nOcular coherence tomography (OCT): Atrophy of outer retina. Bruch\'s membrane is absent in the central fovea.\r\n\r\nElectroretinogram: Normal ffERG in the right eye; reduced cone flash and flicker in the left eye (Abnormal ERG HP:0000512)"	""	""	""	""	""	""	""	""	""	"Retinopathy"	""
"0000249538"	"05517"	"00331346"	"00000"	"Familial, autosomal recessive"	""	"Hydrocephalus, Occipital encephalocele, Polycystic kidney dysplasia"	""	""	""	""	""	""	""	""	"Polydactyly-Syndactyly-Triphalangism group"	"skeletal dysplasia"	""
"0000249539"	"05517"	"00331347"	"00000"	"Familial, autosomal recessive"	""	"Breathing dysregulation, Generalized hypotonia, Abnormal facial shape, Nystagmus, Glob No"	""	""	""	""	""	""	""	""	"Polydactyly-Syndactyly-Triphalangism group"	"skeletal dysplasia"	""
"0000249540"	"05517"	"00331348"	"00000"	"Familial, autosomal recessive"	""	"Hydrocephalus, Failure to thrive, Renal insufficiency, Global developmental delay, Molar t No"	""	""	""	""	""	""	""	""	"Polydactyly-Syndactyly-Triphalangism group"	"skeletal dysplasia"	""
"0000253877"	"04214"	"00335962"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000258760"	"04214"	"00363395"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"early onset high myopia"	""
"0000258895"	"05109"	"00363545"	"00000"	"Familial, autosomal recessive"	"13y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258896"	"05109"	"00363546"	"00000"	"Familial, autosomal recessive"	"64y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258897"	"05109"	"00363547"	"00000"	"Familial, autosomal recessive"	"55y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258898"	"05109"	"00363548"	"00000"	"Familial, autosomal recessive"	"6y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258899"	"05109"	"00363549"	"00000"	"Familial, autosomal recessive"	"4y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258900"	"05109"	"00363550"	"00000"	"Familial, autosomal recessive"	"4y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258901"	"05109"	"00363551"	"00000"	"Familial, autosomal recessive"	"31y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258902"	"05109"	"00363552"	"00000"	"Familial, autosomal recessive"	"28y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258903"	"05109"	"00363553"	"00000"	"Familial, autosomal recessive"	"31y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258904"	"05109"	"00363554"	"00000"	"Familial, autosomal recessive"	"6y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258905"	"05109"	"00363555"	"00000"	"Familial, autosomal recessive"	"2y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267505"	"05109"	"00372184"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267506"	"05109"	"00372185"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267507"	"05109"	"00372186"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267508"	"05109"	"00372187"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267509"	"05109"	"00372188"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267510"	"05109"	"00372189"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267511"	"05109"	"00372190"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267512"	"05109"	"00372191"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267513"	"05109"	"00372192"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267514"	"05109"	"00372193"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267515"	"05109"	"00372194"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267516"	"05109"	"00372195"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267517"	"05109"	"00372196"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267518"	"05109"	"00372197"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267519"	"05109"	"00372198"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267520"	"05109"	"00372199"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267521"	"05109"	"00372200"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267522"	"05109"	"00372201"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267523"	"05109"	"00372202"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267524"	"05109"	"00372203"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267525"	"05109"	"00372204"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267526"	"05109"	"00372205"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267527"	"05109"	"00372206"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267528"	"05109"	"00372207"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267529"	"05109"	"00372208"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267530"	"05109"	"00372209"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267531"	"05109"	"00372210"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267532"	"05109"	"00372211"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267533"	"05109"	"00372212"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267534"	"05109"	"00372213"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267535"	"05109"	"00372214"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267536"	"05109"	"00372215"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267537"	"05109"	"00372216"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267538"	"05109"	"00372217"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267539"	"05109"	"00372218"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267540"	"05109"	"00372219"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267541"	"05109"	"00372220"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267542"	"05109"	"00372221"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267543"	"05109"	"00372222"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267694"	"05109"	"00372373"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267695"	"05109"	"00372374"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267696"	"05109"	"00372375"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000268659"	"04214"	"00373383"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000268668"	"04214"	"00373392"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000268676"	"04214"	"00373400"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000269859"	"00198"	"00374649"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000269889"	"00198"	"00374679"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000270624"	"04214"	"00375410"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272789"	"04214"	"00377637"	"00000"	"Familial, autosomal recessive"	""	"liver disease, oculomotor apraxia"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272790"	"04214"	"00377638"	"00000"	"Familial, autosomal recessive"	""	"nystagmus, strabismus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272791"	"04214"	"00377639"	"00000"	"Familial, autosomal recessive"	""	"kidney disease, oculomotor apraxia, nystagmus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272792"	"04214"	"00377640"	"00000"	"Familial, autosomal recessive"	""	"liver disease, kidney disease, oculomotor apraxia, nystagmus, ptosis, retinal degeneration"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272793"	"04214"	"00377641"	"00000"	"Familial, autosomal recessive"	""	", polydactylyoculomotor apraxia, vessel attenuation, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272794"	"04214"	"00377642"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, nystagmus, retinal degeneration, vessel attenuation, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272795"	"04214"	"00377643"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, strabismus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272796"	"04214"	"00377644"	"00000"	"Familial, autosomal recessive"	""	"liver disease, oculomotor apraxia, nystagmus, strabismus, ptosis, retinal degeneration, vessel attenuation"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272797"	"04214"	"00377645"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, nystagmus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272798"	"04214"	"00377646"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, nystagmus, strabismus, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272912"	"04214"	"00377766"	"00000"	"Familial"	""	"hepatic fibrosis, biliary ductal,proliferation hearing loss, cerebellar vermis hypoplasia, ataxia, mental retardation."	""	""	""	""	""	""	""	""	""	"Joubert syndrome, Nephronophthisis"	""
"0000272916"	"04214"	"00377770"	"00000"	"Familial"	""	"epilepsy, mental retardation, molar tooth sign"	""	""	""	""	""	""	""	""	""	"Joubert syndrome, Nephronophthisis"	""
"0000272918"	"04214"	"00377772"	"00000"	"Familial"	""	"cerebellar vermis hypoplasia.ataxia,mental retardation, oculomotor apraxia type Cogan, muscle hypotonia"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272919"	"04214"	"00377773"	"00000"	"Familial"	""	"occipital encephalocele, craniofacial abnormalities,oligohydramnios"	""	""	""	""	""	""	""	""	""	"Meckel-Gruber syndrome, multicystic dysplastic kidneys;"	""
"0000272920"	"04214"	"00377774"	"00000"	"Familial"	""	"occipital encephalocele, craniofacial abnormalities,oligohydramnios"	""	""	""	""	""	""	""	""	""	"Meckel-Gruber syndrome, multicystic dysplastic kidneys;"	""
"0000272933"	"04214"	"00377787"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272935"	"04214"	"00377789"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Senior-Loken syndrome"	""
"0000272936"	"04214"	"00377790"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Nephronophthisis"	""
"0000272937"	"04214"	"00377791"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Nephronophthisis"	""
"0000272938"	"04214"	"00377792"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Nephronophthisis"	""
"0000273502"	"04210"	"00379658"	"03508"	"Familial, autosomal recessive"	""	"HP:0001141\tHP:0000639\tHP:0000007,\tHP:0001263,\tHP:0001290,\tHP:0002419,\tHP:0000510,\tHP:0001133"	""	""	""	""	""	""	""	""	""	""	""
"0000279240"	"05578"	"00385445"	"00006"	"Familial, autosomal recessive"	"05y"	"see paper; ..., hydrocephalus, occipital encephalocele; born 37w1d, weight 3,954 grams (+4.2SD), length 52.0 cm (+2.5SD), OFC 46.0 cm (+11SD); soon after birth placement ventricularperitoneal shunt for severe hydrocephalus; neonatal period exhibited frequent apneic spells, both obstructive and central components; frequency apneic spells (treated with bidirectional positive airway pressure) increased during infancy; ECG no epileptogenic activities; 5y-poor growth, weight 7.6 kg (−4.0SD), height 85 cm (−4.9SD), severe intellectual disability, no intelligible words, distinctive facies, widely spaced eyes, esotropia, tall ears, depressed nasal bridge, post-axial polydactyly both hands, T1-weighted MRI brain occipital encephalocele, severe hydrocephalus, abdominal ultrasound showed multicystic lesions kidney, ultrasound no intrahepatic fibrosis, no hepatic dysfunction on blood tests"	"<00y00m01d"	""	""	""	""	""	""	""	"MKS6"	"Meckel-Gruber syndrome"	""
"0000280981"	"05109"	"00387418"	"00000"	"Familial, autosomal recessive"	""	"Pure type"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000281104"	"04214"	"00387541"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000281105"	"04214"	"00387542"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000281137"	"04214"	"00387574"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Meckel syndrome"	""
"0000281138"	"04214"	"00387575"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Meckel syndrome"	""
"0000281164"	"04214"	"00387601"	"00000"	"Familial"	""	""	"3y"	""	""	""	""	""	""	""	""	"Meckel-Gruber and Joubert syndrome"	""
"0000281165"	"04214"	"00387602"	"00000"	"Familial"	""	""	"4y"	""	""	""	""	""	""	""	""	"Meckel-Gruber and Joubert syndrome"	""
"0000281671"	"04214"	"00388077"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281683"	"04214"	"00388089"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281696"	"04214"	"00388102"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281699"	"04214"	"00388105"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281725"	"04214"	"00388131"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281729"	"04214"	"00388135"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281730"	"04214"	"00388136"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281731"	"04214"	"00388137"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281739"	"04214"	"00388146"	"00000"	"Unknown"	"7y4m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: 0.1/0.2, fundus: Pigmentary retinopathy, ERG: Severely reduced, additional features: Developmental delay, Molar tooth sign"	""	""	""	""	""	""	""	""	"Joubert syndrome"	"Joubert syndrome"	""
"0000284326"	"04214"	"00390838"	"00000"	"Familial, autosomal recessive"	"16y"	"molar tooth sign"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000288791"	"04214"	"00395593"	"00000"	"Isolated (sporadic)"	""	"astigmatism, optic nerve coloboma, nystagmus, unilateral strabismus, bilateral sensorineural hearing impairment, recurrent otitis media, abnormality of the cerebellar peduncle, agenesis of cerebelar vermis, delayed myelination, molar tooth sign on mri, global developmental delay, generalized hypotonia"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000291840"	"04214"	"00398756"	"00000"	"Familial, autosomal recessive"	"21y"	"marked photophobia and congenital nystagmus; best corrected visual acuity: light perception at 21y; visual fields bilaterally constricted to the 10  at stimulus V4e; funduscopy: beaten-bronze appearance of retinal periphery with fine white dots and pigment migration associated with marked macular atrophic changes; fundus autofluorescence: patchy loss of autofluorescence in the periphery and macula;  spectral domain optical coherence tomography: preserved but thinned outer nuclear layer centrally associated with a loss of the outer retinal hyper reflective bands replaced by hyper reflective material above the retinal pigment epithelium/Bruch\'s complex; renal abnormalities with high blood pressure, hematuria and nephrotic-range proteinuria with a renal biopsy not compatible with nephronophthisis"	""	""	""	""	""	""	""	""	"RP93"	"early-onset cone-rod dystrophy"	""
"0000291841"	"04214"	"00398757"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity: 20/32; high myopia; kinetic visual field was moderately reduced to 110 deg at the III4e stimulus; full-field electroretinogram: non-recordable; funduscopy: tilted disc, narrowed retinal vessels, very few pigment migrations in retinal periphery and well preserved fovea; fundus autofluorescence: sparse loss of autofluorescence in the per; iphery with a perifoveal ring of increased autofluorescence; spectral domain optical coherence tomography: (vertical scans) relative preservation of the outer retinal hyper reflective bands and the outer nuclear layers centrally; renal function and brain structure: normal"	""	"19y"	""	""	""	""	""	""	"RP93"	"retinitis pigmentosa"	""
"0000291842"	"04214"	"00398758"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity: 20/32; high myopia; kinetic visual field was moderately reduced to 160 deg at the III4e stimulus; full-field electroretinogram: non-recordable; funduscopy: tilted disc, narrowed retinal vessels, very few pigment migrations in retinal periphery and well preserved fovea; fundus autofluorescence: sparse loss of autofluorescence in the periphery with a perifoveal ring of increased autofluorescence; spectral domain optical coherence tomography: (vertical scans) relative preservation of the outer retinal hyper reflective bands and the outer nuclear layers centrally; normal cerebral magnetic resonance imaging, normal blood pressure, preserved glomerular filtration rate; hematuria and subnormal nephrotic-range proteinuria"	""	"25y"	""	""	""	""	""	""	"RP93"	"retinitis pigmentosa"	""
"0000299815"	"04214"	"00407668"	"00000"	"Familial, autosomal recessive"	""	"chronic kidney disease, extra-renal manifestations: choledochal cyst, hepatic fibrosis, Caroli"	""	""	""	""	""	""	""	""	"nephronophthisis-related ciliopathy"	""	""
"0000299816"	"04214"	"00407669"	"00000"	"Familial, autosomal recessive"	""	"chronic kidney disease, extra-renal manifestations: none"	""	""	""	""	""	""	""	""	"nephronophthisis-related ciliopathy"	""	""
"0000307048"	"04214"	"00415250"	"00000"	"Familial, autosomal recessive"	""	"OMIM: 612285; encephalocele, ventricular septal defect, and enlarged kidneys"	""	""	""	""	""	""	""	""	"CC2D2A-related Syndrome"	""	""
"0000309201"	"04214"	"00417833"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Meckel syndrome"	""	""
"0000318947"	"00198"	"00428001"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321771"	"00082"	"00431162"	"01401"	"Isolated (sporadic)"	""	""	""	""	"neonatal"	"C2D2A"	""	""	""	""	""	""	""
"0000332822"	"05578"	"00443488"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332823"	"05578"	"00443489"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332824"	"05578"	"00443490"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332834"	"05578"	"00443500"	"00006"	"Familial, autosomal recessive"	"<0d"	"occipital encephalocele; large cystic kidneys; hypoplastic lungs; fibrotic/cystic liver changes; cleft lip/palate; no polydactyly hands; polydactyly feet; club feet"	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332835"	"05578"	"00443501"	"00006"	"Familial, autosomal recessive"	"<0d"	"occipital encephalocele; large cystic kidneys; hypoplastic lungs; fibrotic/cystic liver changes; polydactyly hands; polydactyly feet; club feet; gonadal undifferentiation"	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332836"	"05578"	"00443502"	"00006"	"Familial, autosomal recessive"	"<0d"	"occipital encephalocele; large cystic kidneys; hypoplastic lungs; no cleft lip/palate; polydactyly hands; polydactyly feet; club feet"	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332837"	"05578"	"00443503"	"00006"	"Familial, autosomal recessive"	"<0d"	"occipital encephalocele; large cystic kidneys; fibrotic/cystic liver changes; no cleft lip/palate; polydactyly hands; polydactyly feet; club feet; seven toes with double big toes in both feet"	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332838"	"05578"	"00443504"	"00006"	"Familial, autosomal recessive"	"<0d"	"occipital encephalocele; anencephaly; large cystic kidneys; hypoplastic lungs; polydactyly hands; polydactyly feet; club feet; one large horse-shoe kidney, only two lobes in both lungs"	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332839"	"05578"	"00443505"	"00006"	"Familial, autosomal recessive"	"<0d"	"occipital encephalocele; large cystic kidneys; hypoplastic lungs; fibrotic/cystic liver changes; no polydactyly hands; polydactyly feet; club feet"	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332840"	"05578"	"00443506"	"00006"	"Familial, autosomal recessive"	"<0d"	"occipital encephalocele; large cystic kidneys; fibrotic/cystic liver changes"	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332841"	"05578"	"00443507"	"00006"	"Familial, autosomal recessive"	"<0d"	"occipital encephalocele; anencephaly; large cystic kidneys; fibrotic/cystic liver changes; polydactyly hands; polydactyly feet"	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332842"	"05578"	"00443508"	"00006"	"Familial, autosomal recessive"	"<0d"	"occipital encephalocele; hydrocephaly; large cystic kidneys; fibrotic/cystic liver changes; polydactyly hands; polydactyly feet"	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332843"	"05578"	"00443509"	"00006"	"Familial, autosomal recessive"	"<0d"	"occipital encephalocele; large cystic kidneys; hypoplastic lungs; polydactyly hands; polydactyly feet; hypoplastic penis"	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000332844"	"05578"	"00443510"	"00006"	"Familial, autosomal recessive"	"<0d"	"occipital encephalocele; 2nd hole in occipital bone; large cystic kidneys; cleft lip/palate; polydactyly hands; polydactyly feet; club feet; aplastic gall bladder and bladder, ureters connect to vagina"	""	""	""	""	""	""	""	""	"MKS6"	"Meckel syndrome"	""
"0000337152"	"05611"	"00447962"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies"	""	""	""	""	""	""	""	""	"MRT63"	"intellectual disability"	""
"0000337153"	"05611"	"00447963"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies"	""	""	""	""	""	""	""	""	"MRT63"	"intellectual disability"	""
"0000338854"	"05109"	"00449684"	"04682"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000338855"	"05109"	"00449685"	"04682"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000338856"	"05109"	"00449686"	"04682"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000338857"	"05109"	"00449687"	"04682"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000344322"	"00198"	"00455789"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"JBTS9"	"neurogenetic diseases"	""
"0000350852"	"05109"	"00465299"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"JBTS9"	"Joubert syndrome"	""
"0000353881"	"00198"	"00468728"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000353882"	"00198"	"00468729"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000353883"	"00198"	"00468730"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000353884"	"00198"	"00468731"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""


## Screenings ## Do not remove or alter this header ##
## Count = 192
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000028954"	"00028922"	"1"	"01188"	"01188"	"2015-01-05 15:34:53"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000033159"	"00033091"	"1"	"00229"	"00229"	"2012-02-04 16:07:37"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033187"	"00033119"	"1"	"00229"	"00229"	"2012-02-13 09:17:22"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000050595"	"00050650"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000056005"	"00056050"	"1"	"00552"	"00552"	"2015-12-08 16:53:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000056006"	"00056051"	"1"	"00552"	"00552"	"2015-12-08 16:55:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000081192"	"00081080"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000226781"	"00225714"	"1"	"00006"	"00006"	"2019-02-22 23:18:28"	""	""	"SEQ"	"DNA"	""	""
"0000226782"	"00225715"	"1"	"00006"	"00006"	"2019-02-22 23:24:08"	""	""	"SEQ"	"DNA"	""	""
"0000226783"	"00225716"	"1"	"00006"	"00006"	"2019-02-22 23:28:33"	""	""	"SEQ"	"DNA"	""	"wes"
"0000226784"	"00225717"	"1"	"00006"	"00006"	"2019-02-22 23:31:27"	""	""	"SEQ"	"DNA"	""	"WES"
"0000226785"	"00225718"	"1"	"00006"	"00006"	"2019-02-22 23:34:20"	""	""	"SEQ"	"DNA"	""	"WES"
"0000226786"	"00225719"	"1"	"00006"	"00006"	"2019-02-22 23:37:21"	""	""	"SEQ"	"DNA"	""	""
"0000226793"	"00225726"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226794"	"00225727"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226795"	"00225728"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226796"	"00225729"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226797"	"00225730"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226798"	"00225731"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226799"	"00225732"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226800"	"00225733"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226801"	"00225734"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226802"	"00225735"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226803"	"00225736"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226804"	"00225737"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226805"	"00225738"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226806"	"00225739"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226807"	"00225740"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226808"	"00225741"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226809"	"00225742"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226810"	"00225743"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226811"	"00225744"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226812"	"00225745"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226813"	"00225746"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226814"	"00225747"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000226815"	"00225748"	"1"	"00006"	"00006"	"2019-02-23 21:23:16"	""	""	"SEQ"	"DNA"	""	""
"0000270578"	"00269435"	"1"	"03508"	"03508"	"2019-11-27 13:00:34"	"03508"	"2019-11-27 14:37:38"	"SEQ-NG"	"DNA"	"Blood"	"WES"
"0000290520"	"00289350"	"1"	"01164"	"01164"	"2020-03-05 10:31:55"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000294729"	"00293561"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294730"	"00293562"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294731"	"00293563"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294732"	"00293564"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294733"	"00293565"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294736"	"00293568"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294737"	"00293569"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294738"	"00293570"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296479"	"00295311"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297973"	"00296863"	"1"	"01164"	"01164"	"2020-04-14 14:25:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000306115"	"00304986"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000328676"	"00327463"	"1"	"03980"	"03980"	"2021-01-21 22:19:35"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000332565"	"00331346"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332566"	"00331347"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332567"	"00331348"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000337192"	"00335962"	"1"	"00000"	"00006"	"2021-03-10 17:05:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364623"	"00363395"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364630"	"00363402"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364773"	"00363545"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364774"	"00363546"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364775"	"00363547"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364776"	"00363548"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364777"	"00363549"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364778"	"00363550"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364779"	"00363551"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364780"	"00363552"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364781"	"00363553"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364782"	"00363554"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364783"	"00363555"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000373413"	"00372184"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373414"	"00372185"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373415"	"00372186"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373416"	"00372187"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373417"	"00372188"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373418"	"00372189"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373419"	"00372190"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373420"	"00372191"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373421"	"00372192"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373422"	"00372193"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373423"	"00372194"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373424"	"00372195"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373425"	"00372196"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373426"	"00372197"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373427"	"00372198"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373428"	"00372199"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373429"	"00372200"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373430"	"00372201"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373431"	"00372202"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373432"	"00372203"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373433"	"00372204"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373434"	"00372205"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373435"	"00372206"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373436"	"00372207"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373437"	"00372208"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373438"	"00372209"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373439"	"00372210"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373440"	"00372211"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373441"	"00372212"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373442"	"00372213"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373443"	"00372214"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373444"	"00372215"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373445"	"00372216"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373446"	"00372217"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373447"	"00372218"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373448"	"00372219"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373449"	"00372220"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373450"	"00372221"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373451"	"00372222"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373602"	"00372373"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373603"	"00372374"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373604"	"00372375"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000374618"	"00373383"	"1"	"00000"	"00006"	"2021-05-14 11:33:21"	""	""	"SEQ-NG"	"DNA"	""	"22-gene panel"
"0000374627"	"00373392"	"1"	"00000"	"00006"	"2021-05-14 11:33:21"	""	""	"SEQ-NG"	"DNA"	""	"22-gene panel"
"0000374635"	"00373400"	"1"	"00000"	"00006"	"2021-05-14 11:33:21"	""	""	"SEQ-NG"	"DNA"	""	"22-gene panel"
"0000375843"	"00374649"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375873"	"00374679"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000376607"	"00375410"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378841"	"00377637"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378842"	"00377638"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378843"	"00377639"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378844"	"00377640"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378845"	"00377641"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378846"	"00377642"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378847"	"00377643"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378848"	"00377644"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378849"	"00377645"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378850"	"00377646"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378970"	"00377766"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378974"	"00377770"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378976"	"00377772"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378977"	"00377773"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378978"	"00377774"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378991"	"00377787"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378993"	"00377789"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378994"	"00377790"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378995"	"00377791"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000378996"	"00377792"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000380824"	"00379625"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380858"	"00379658"	"1"	"03508"	"03508"	"2021-08-06 07:39:59"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000386674"	"00385445"	"1"	"00006"	"00006"	"2021-10-11 17:17:11"	""	""	"PCRlr;SEQ"	"DNA"	""	""
"0000388644"	"00387418"	"1"	"00000"	"03840"	"2021-10-29 11:08:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000388767"	"00387541"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"arraySNP;SEQ-NG;PCR"	"DNA"	"blood"	""
"0000388768"	"00387542"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"arraySNP;SEQ-NG;PCR"	"DNA"	"blood"	""
"0000388800"	"00387574"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"arraySNP;SEQ-NG;PCR"	"DNA"	"blood"	""
"0000388801"	"00387575"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"arraySNP;SEQ-NG;PCR"	"DNA"	"blood"	""
"0000388827"	"00387601"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ-NG;PCR"	"DNA"	"blood"	""
"0000388828"	"00387602"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ-NG;PCR"	"DNA"	"blood"	""
"0000389316"	"00388077"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389328"	"00388089"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389341"	"00388102"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389344"	"00388105"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389370"	"00388131"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389374"	"00388135"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389375"	"00388136"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389376"	"00388137"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389385"	"00388146"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000392079"	"00390838"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ-NG"	"DNA"	""	""
"0000396831"	"00395593"	"1"	"00000"	"03840"	"2021-12-08 14:12:08"	""	""	"?"	"DNA"	""	"clinical exome sequencing"
"0000399997"	"00398756"	"1"	"00000"	"03840"	"2022-01-12 10:12:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000399998"	"00398757"	"1"	"00000"	"03840"	"2022-01-12 10:12:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000399999"	"00398758"	"1"	"00000"	"03840"	"2022-01-12 10:12:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000408920"	"00407668"	"1"	"00000"	"03840"	"2022-04-07 15:22:18"	""	""	"SEQ-NG-I"	"DNA"	""	"targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD"
"0000408921"	"00407669"	"1"	"00000"	"03840"	"2022-04-07 15:22:18"	""	""	"SEQ-NG-I"	"DNA"	""	"targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD"
"0000416532"	"00415250"	"1"	"00000"	"03840"	"2022-08-10 20:39:58"	""	""	"SEQ-NG"	"DNA"	""	"exome sequencing done at a commercial CAPaccredited laboratory"
"0000419128"	"00417833"	"1"	"00000"	"03840"	"2022-09-24 20:09:21"	""	""	"?"	"DNA"	""	""
"0000429414"	"00428001"	"1"	"00006"	"00006"	"2022-12-19 13:11:26"	""	""	"RT-PCR;SEQ;SEQ-NG-RNA"	"DNA;RNA"	"whole blood"	"duo WES"
"0000432573"	"00431162"	"1"	"01401"	"01401"	"2023-01-31 18:12:14"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000444980"	"00443488"	"1"	"00006"	"00006"	"2023-11-27 22:03:26"	""	""	"SEQ"	"DNA"	""	""
"0000444981"	"00443489"	"1"	"00006"	"00006"	"2023-11-27 22:10:37"	""	""	"SEQ"	"DNA"	""	""
"0000444982"	"00443490"	"1"	"00006"	"00006"	"2023-11-27 22:16:07"	""	""	"SEQ"	"DNA"	""	""
"0000444992"	"00443500"	"1"	"00006"	"00006"	"2023-11-28 15:34:01"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000444993"	"00443501"	"1"	"00006"	"00006"	"2023-11-28 15:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000444994"	"00443502"	"1"	"00006"	"00006"	"2023-11-28 15:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000444995"	"00443503"	"1"	"00006"	"00006"	"2023-11-28 15:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000444996"	"00443504"	"1"	"00006"	"00006"	"2023-11-28 15:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000444997"	"00443505"	"1"	"00006"	"00006"	"2023-11-28 15:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000444998"	"00443506"	"1"	"00006"	"00006"	"2023-11-28 15:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000444999"	"00443507"	"1"	"00006"	"00006"	"2023-11-28 15:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000445000"	"00443508"	"1"	"00006"	"00006"	"2023-11-28 15:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000445001"	"00443509"	"1"	"00006"	"00006"	"2023-11-28 15:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000445002"	"00443510"	"1"	"00006"	"00006"	"2023-11-28 15:34:01"	""	""	"SEQ"	"DNA"	""	""
"0000449535"	"00447962"	"1"	"00006"	"00006"	"2024-02-05 12:59:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000449536"	"00447963"	"1"	"00006"	"00006"	"2024-02-05 12:59:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000451275"	"00449684"	"1"	"04682"	"04682"	"2024-04-30 16:30:30"	""	""	"SEQ-NG"	"DNA"	""	""
"0000451276"	"00449685"	"1"	"04682"	"04682"	"2024-04-30 16:41:18"	"00006"	"2025-05-06 16:05:58"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000451277"	"00449686"	"1"	"04682"	"04682"	"2024-04-30 16:45:20"	""	""	"SEQ-NG"	"DNA"	""	""
"0000451278"	"00449687"	"1"	"04682"	"04682"	"2024-04-30 16:47:20"	""	""	"SEQ-NG"	"DNA"	""	""
"0000457405"	"00455789"	"1"	"00006"	"00006"	"2024-10-20 15:03:37"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000462608"	"00460976"	"1"	"04796"	"00006"	"2024-11-05 16:15:00"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"fibroblasts"	"mRNA splicing analysis on tissue"
"0000466947"	"00465299"	"1"	"00006"	"00006"	"2025-05-08 14:59:13"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000470396"	"00468728"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470397"	"00468729"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470398"	"00468730"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470399"	"00468731"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 167
"{{screeningid}}"	"{{geneid}}"
"0000028954"	"CC2D2A"
"0000033159"	"CC2D2A"
"0000033159"	"CRB1"
"0000033159"	"RP2"
"0000033159"	"SEMA4A"
"0000033159"	"TOPORS"
"0000033187"	"CC2D2A"
"0000033187"	"SNRNP200"
"0000050595"	"CC2D2A"
"0000081192"	"CC2D2A"
"0000226781"	"CC2D2A"
"0000226782"	"CC2D2A"
"0000226783"	"CC2D2A"
"0000226784"	"CC2D2A"
"0000226785"	"CC2D2A"
"0000226786"	"CC2D2A"
"0000226793"	"CC2D2A"
"0000226794"	"CC2D2A"
"0000226795"	"CC2D2A"
"0000226796"	"CC2D2A"
"0000226797"	"CC2D2A"
"0000226798"	"CC2D2A"
"0000226799"	"CC2D2A"
"0000226800"	"CC2D2A"
"0000226801"	"CC2D2A"
"0000226802"	"CC2D2A"
"0000226803"	"CC2D2A"
"0000226804"	"CC2D2A"
"0000226805"	"CC2D2A"
"0000226806"	"CC2D2A"
"0000226807"	"CC2D2A"
"0000226808"	"CC2D2A"
"0000226809"	"CC2D2A"
"0000226810"	"CC2D2A"
"0000226811"	"CC2D2A"
"0000226812"	"CC2D2A"
"0000226813"	"CC2D2A"
"0000226814"	"CC2D2A"
"0000226815"	"CC2D2A"
"0000332565"	"CC2D2A"
"0000332566"	"CC2D2A"
"0000332567"	"CC2D2A"
"0000337192"	"CC2D2A"
"0000364623"	"CC2D2A"
"0000364630"	"CC2D2A"
"0000364773"	"CC2D2A"
"0000364774"	"CC2D2A"
"0000364775"	"CC2D2A"
"0000364776"	"CC2D2A"
"0000364777"	"CC2D2A"
"0000364778"	"CC2D2A"
"0000364779"	"CC2D2A"
"0000364780"	"CC2D2A"
"0000364781"	"CC2D2A"
"0000364782"	"CC2D2A"
"0000364783"	"CC2D2A"
"0000373413"	"CC2D2A"
"0000373414"	"CC2D2A"
"0000373415"	"CC2D2A"
"0000373416"	"CC2D2A"
"0000373417"	"CC2D2A"
"0000373418"	"CC2D2A"
"0000373419"	"CC2D2A"
"0000373420"	"CC2D2A"
"0000373421"	"CC2D2A"
"0000373422"	"CC2D2A"
"0000373423"	"CC2D2A"
"0000373424"	"CC2D2A"
"0000373425"	"CC2D2A"
"0000373426"	"CC2D2A"
"0000373427"	"CC2D2A"
"0000373428"	"CC2D2A"
"0000373429"	"CC2D2A"
"0000373430"	"CC2D2A"
"0000373431"	"CC2D2A"
"0000373432"	"CC2D2A"
"0000373433"	"CC2D2A"
"0000373434"	"CC2D2A"
"0000373435"	"CC2D2A"
"0000373436"	"CC2D2A"
"0000373437"	"CC2D2A"
"0000373438"	"CC2D2A"
"0000373439"	"CC2D2A"
"0000373440"	"CC2D2A"
"0000373441"	"CC2D2A"
"0000373442"	"CC2D2A"
"0000373443"	"CC2D2A"
"0000373444"	"CC2D2A"
"0000373445"	"CC2D2A"
"0000373446"	"CC2D2A"
"0000373447"	"CC2D2A"
"0000373448"	"CC2D2A"
"0000373449"	"CC2D2A"
"0000373450"	"CC2D2A"
"0000373451"	"CC2D2A"
"0000373602"	"CC2D2A"
"0000373603"	"CC2D2A"
"0000373604"	"CC2D2A"
"0000374618"	"CC2D2A"
"0000374627"	"CC2D2A"
"0000374635"	"CC2D2A"
"0000375843"	"AHI1"
"0000375873"	"CC2D2A"
"0000378841"	"CC2D2A"
"0000378842"	"CC2D2A"
"0000378843"	"CC2D2A"
"0000378844"	"CC2D2A"
"0000378845"	"CC2D2A"
"0000378846"	"CC2D2A"
"0000378847"	"CC2D2A"
"0000378848"	"CC2D2A"
"0000378849"	"CC2D2A"
"0000378850"	"CC2D2A"
"0000378970"	"TMEM67"
"0000378974"	"TMEM67"
"0000378976"	"CC2D2A"
"0000378977"	"CC2D2A"
"0000378978"	"CC2D2A"
"0000378991"	"TMEM67"
"0000378993"	"CC2D2A"
"0000378994"	"CC2D2A"
"0000378995"	"CC2D2A"
"0000378996"	"CC2D2A"
"0000380824"	"CC2D2A"
"0000386674"	"CC2D2A"
"0000388644"	"CEP290"
"0000388767"	"CC2D2A"
"0000388768"	"CC2D2A"
"0000388800"	"CC2D2A"
"0000388801"	"CC2D2A"
"0000388827"	"CC2D2A"
"0000388828"	"CC2D2A"
"0000389316"	"CC2D2A"
"0000389328"	"CC2D2A"
"0000389341"	"CC2D2A"
"0000389344"	"CC2D2A"
"0000389370"	"CC2D2A"
"0000389374"	"CC2D2A"
"0000389375"	"CC2D2A"
"0000389376"	"CC2D2A"
"0000389385"	"CC2D2A"
"0000392079"	"CC2D2A"
"0000396831"	"CC2D2A"
"0000399997"	"CC2D2A"
"0000399998"	"CC2D2A"
"0000399999"	"CC2D2A"
"0000408920"	"CC2D2A"
"0000408921"	"CC2D2A"
"0000416532"	"CC2D2A"
"0000419128"	"WDPCP"
"0000432573"	"CC2D2A"
"0000444980"	"CC2D2A"
"0000444981"	"CC2D2A"
"0000444982"	"CC2D2A"
"0000444992"	"CC2D2A"
"0000444993"	"CC2D2A"
"0000444994"	"CC2D2A"
"0000444995"	"CC2D2A"
"0000444996"	"CC2D2A"
"0000444997"	"CC2D2A"
"0000444998"	"CC2D2A"
"0000444999"	"CC2D2A"
"0000445000"	"CC2D2A"
"0000445001"	"CC2D2A"
"0000445002"	"CC2D2A"
"0000451276"	"CC2D2A"
"0000462608"	"CC2D2A"


## 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 = 577
"{{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}}"
"0000016445"	"0"	"99"	"4"	"15511840"	"15511840"	"subst"	"8.26194E-6"	"00015"	"CC2D2A_000003"	"g.15511840C>T"	""	""	""	""	"1 Mauritanian MKS6 family (hom)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.15510217C>T"	""	"pathogenic (recessive)"	""
"0000016446"	"0"	"99"	"4"	"15516446"	"15516446"	"del"	"0"	"00015"	"CC2D2A_000004"	"g.15516446del"	""	"{PMID:Mougou-Zerelli et al. 2009:19777577}"	""	"Leu279CysfsX40"	"1 American MKS6 family (het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.15514823del"	""	"pathogenic"	""
"0000016447"	"0"	"99"	"4"	"15529259"	"15529259"	"del"	"0"	"00015"	"CC2D2A_000005"	"g.15529259del"	""	""	""	"1339delG"	"1 MKS6 family with undetermined ethnicity (het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.15527636del"	""	"pathogenic (recessive)"	""
"0000016448"	"11"	"77"	"4"	"15534887"	"15534887"	"subst"	"0"	"00015"	"CC2D2A_000006"	"g.15534887G>A"	""	""	""	"c.1538T>A (Trp513X)"	"1 French MKS6 family (com-het)\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message."	"SUMMARY record"	"-"	""	"0"	""	""	"g.15533263T>A"	""	"pathogenic (recessive)"	""
"0000016449"	"0"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00015"	"CC2D2A_000007"	"g.15538697C>T"	"3/575 FIN (het)"	""	""	""	"variant creates new donor splice site; second most common Finnish MKS variant"	"SUMMARY record"	""	"rs116358011"	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000016450"	"0"	"77"	"4"	"15554929"	"15554929"	"subst"	"4.09937E-6"	"00015"	"CC2D2A_000008"	"g.15554929G>C"	""	""	""	""	"1 French MKS6 family (com-het); potential missplicing"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.15553306G>C"	""	"pathogenic (recessive)"	""
"0000016451"	"0"	"99"	"4"	"15559074"	"15559074"	"subst"	"1.2342E-5"	"00015"	"CC2D2A_000009"	"g.15559074C>T"	""	""	""	""	"1 French MKS6 family (com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.15557451C>T"	""	"pathogenic (recessive)"	""
"0000016452"	"0"	"90"	"4"	"15565047"	"15565047"	"del"	"0"	"00015"	"CC2D2A_000010"	"g.15565047del"	""	"{PMID:Mougou-Zerelli et al. 2009:19777577}"	""	"3084delG (Lys1029fs)"	"1 Turkish MKS6 family (hom)"	"SUMMARY record"	""	""	"0"	""	""	"g.15563424del"	""	"pathogenic (recessive)"	""
"0000016453"	"0"	"77"	"4"	"15565108"	"15565108"	"subst"	"0"	"00015"	"CC2D2A_000011"	"g.15565108C>G"	""	"{PMID:Mougou-Zerelli et al. 2009:19777577}"	""	"Arg1049X"	"1 Guadeloupean MKS6 family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.15563485C>G"	""	"likely pathogenic"	""
"0000016454"	"0"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00015"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Tallila al. 2009:19466712}"	""	"Val1097fs"	"first nt exon 29"	"SUMMARY record"	""	""	"0"	""	""	"g.15567677del"	""	"pathogenic (recessive)"	""
"0000016455"	"0"	"70"	"4"	"15569352"	"15569352"	"subst"	"3.38304E-5"	"00015"	"CC2D2A_000013"	"g.15569352C>T"	""	""	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.15567729C>T"	""	"likely pathogenic (recessive)"	""
"0000016456"	"0"	"77"	"4"	"15570913"	"15570913"	"subst"	"0"	"00015"	"CC2D2A_000014"	"g.15570913C>A"	""	""	""	""	"1 French MKS6 family (hom); potential missplicing"	"SUMMARY record"	"-"	""	"0"	""	""	"g.15569290C>A"	""	"likely pathogenic"	""
"0000016457"	"3"	"99"	"4"	"15570915"	"15581795"	""	"0"	"00015"	"CC2D2A_000015"	"g.(15569410_15570915)_(15581795_15587779)del"	""	"{PMID:Mougou-Zerelli et al. 2009:19777577}"	""	"deletion ex28-31"	"1 Algerian MKS6 family (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000016458"	"0"	"99"	"4"	"15572047"	"15572048"	"ins"	"0"	"00015"	"CC2D2A_000016"	"g.15572047_15572048insTG"	""	""	""	""	"1 French MKS6 family (com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.15570424_15570425insTG"	""	"pathogenic (recessive)"	""
"0000016459"	"0"	"99"	"4"	"15572109"	"15572109"	"del"	"0"	"00015"	"CC2D2A_000017"	"g.15572109del"	""	"{PMID:Mougou-Zerelli et al. 2009:19777577}"	""	"Phe1195SerfsX11"	"1 Turkish MKS6 family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.15570486del"	""	"pathogenic"	""
"0000016460"	"1"	"90"	"4"	"15581798"	"15581801"	"del"	"0"	"00015"	"CC2D2A_000018"	"g.15581798_15581801del"	""	""	""	"3975_3975+3delAGTA"	""	"SUMMARY record"	""	""	"0"	""	""	"g.15580175_15580178del"	""	"pathogenic (recessive)"	""
"0000016462"	"21"	"90"	"4"	"15589553"	"15589553"	"del"	"0"	"00015"	"CC2D2A_000020"	"g.15589553del"	""	""	""	"4179delG (Gly1394fs)"	"potential missplicing"	"SUMMARY record"	""	""	"0"	""	""	"g.15587930del"	""	"pathogenic (recessive)"	""
"0000016463"	"1"	"77"	"4"	"15599090"	"15599090"	"subst"	"0"	"00015"	"CC2D2A_000021"	"g.15599090T>A"	""	""	""	""	"1 French MKS6 family (com-het); potential missplicing"	"SUMMARY record"	"-"	""	"0"	""	""	"g.15597467T>A"	""	"pathogenic (recessive)"	""
"0000016464"	"0"	"77"	"4"	"15572069"	"15572069"	"subst"	"2.90384E-5"	"00015"	"CC2D2A_000022"	"g.15572069T>C"	"33/4111 CON het"	"{PMID:Otto et al. 2011:21068128}"	""	"W1182R"	"1 British MKS6 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.15570446T>C"	""	"likely pathogenic"	""
"0000016465"	"0"	"99"	"4"	"15581593"	"15581593"	"dup"	"0"	"00015"	"CC2D2A_000023"	"g.15581593dup"	"5/500 CON (het)"	"{PMID:Otto et al. 2011:21068128}"	""	"3774_5insT (E1259fsX1)"	"1 British MKS6 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.15579970dup"	""	"pathogenic"	""
"0000016466"	"0"	"77"	"4"	"15513014"	"15513016"	"del"	"0"	"00015"	"CC2D2A_000024"	"g.15513014_15513016del"	""	"{PMID:Otto et al. 2011:21068128}"	""	"685_7delGAA (E229del)"	"1 British MKS6 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.15511391_15511393del"	""	"likely pathogenic"	""
"0000016467"	"0"	"77"	"4"	"15581712"	"15581712"	"subst"	"0"	"00015"	"CC2D2A_000025"	"g.15581712T>A"	""	"{PMID:Otto et al. 2011:21068128}"	""	"V1298D"	"1 British MKS6 family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.15580089T>A"	""	"likely pathogenic"	""
"0000052261"	"1"	"70"	"4"	"15569300"	"15569300"	"del"	"0"	"01188"	"CC2D2A_000104"	"g.15569300del"	""	"{PMID:Kroes 2016:25920555}"	""	"3289-1delG"	""	"Unknown"	"?"	""	"0"	""	""	"g.15567677del"	""	"likely pathogenic (recessive)"	""
"0000052262"	"2"	"70"	"4"	"15601232"	"15601232"	"subst"	"0"	"01188"	"CC2D2A_000027"	"g.15601232C>A"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.15599609C>A"	""	"likely pathogenic"	""
"0000059614"	"2"	"70"	"4"	"15539567"	"15539567"	"subst"	"2.94276E-5"	"00229"	"CC2D2A_000001"	"g.15539567G>A"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted to affect function, but insufficient evidence for definite conclusion"	"Germline"	"yes"	""	"0"	""	""	"g.15537944G>A"	""	"likely pathogenic"	""
"0000059615"	"1"	"50"	"4"	"15513014"	"15513016"	"del"	"0"	"00229"	"CC2D2A_000002"	"g.15513014_15513016del"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15511391_15511393del"	""	"VUS"	""
"0000059616"	"1"	"50"	"4"	"15513014"	"15513016"	"del"	"0"	"00229"	"CC2D2A_000002"	"g.15513014_15513016del"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15511391_15511393del"	""	"VUS"	""
"0000059617"	"2"	"50"	"4"	"15513014"	"15513016"	"del"	"0"	"00229"	"CC2D2A_000002"	"g.15513014_15513016del"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15511391_15511393del"	""	"VUS"	""
"0000079575"	"3"	"90"	"4"	"15602948"	"15602948"	"subst"	"0.000177867"	"00006"	"CC2D2A_000028"	"g.15602948T>C"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15601325T>C"	""	"pathogenic"	""
"0000086041"	"1"	"90"	"4"	"15559104"	"15559104"	"subst"	"0"	"00552"	"CC2D2A_000030"	"g.15559104C>T"	""	"{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15557481C>T"	""	"pathogenic"	""
"0000086042"	"2"	"90"	"4"	"15581593"	"15581593"	"dup"	"0"	"00552"	"CC2D2A_000023"	"g.15581593dup"	""	"{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15579970dup"	""	"pathogenic"	""
"0000086043"	"3"	"90"	"4"	"15560833"	"15560833"	"del"	"0"	"00552"	"CC2D2A_000029"	"g.15560833del"	""	"{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15559210del"	""	"pathogenic"	""
"0000130278"	"3"	"70"	"4"	"15512979"	"15512979"	"del"	"0"	"01758"	"CC2D2A_000031"	"g.15512979del"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15511356del"	""	"likely pathogenic"	"ACMG"
"0000246222"	"0"	"10"	"4"	"15534868"	"15534868"	"subst"	"0.00648421"	"02330"	"CC2D2A_000063"	"g.15534868A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1519A>G (p.K507E, p.(Lys507Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15533245A>G"	""	"benign"	""
"0000246262"	"0"	"10"	"4"	"15559148"	"15559148"	"del"	"0.000211897"	"02330"	"CC2D2A_000113"	"g.15559148del"	""	""	""	"CC2D2A(NM_001080522.2):c.2829+18delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15557525del"	""	"benign"	""
"0000249604"	"0"	"70"	"4"	"15477557"	"15477557"	"subst"	"0"	"02325"	"CC2D2A_000032"	"g.15477557A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1A>G (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15475933A>G"	""	"likely pathogenic"	""
"0000250965"	"0"	"10"	"4"	"15534868"	"15534868"	"subst"	"0.00648421"	"02326"	"CC2D2A_000063"	"g.15534868A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1519A>G (p.K507E, p.(Lys507Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15533245A>G"	""	"benign"	""
"0000251011"	"0"	"10"	"4"	"15516374"	"15516374"	"subst"	"0.00141018"	"02326"	"CC2D2A_000053"	"g.15516374A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.762A>G (p.L254=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15514751A>G"	""	"benign"	""
"0000251310"	"0"	"10"	"4"	"15560691"	"15560691"	"subst"	"0"	"02326"	"CC2D2A_000114"	"g.15560691A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.2830-97A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15559068A>G"	""	"benign"	""
"0000253530"	"0"	"10"	"4"	"15518357"	"15518357"	"subst"	"0.0758388"	"01943"	"CC2D2A_000059"	"g.15518357A>C"	""	""	""	"CC2D2A(NM_001080522.2):c.1127A>C (p.E376A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15516734A>C"	""	"benign"	""
"0000254185"	"0"	"30"	"4"	"15603047"	"15603047"	"subst"	"7.45712E-6"	"01943"	"CC2D2A_000095"	"g.15603047A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.4862A>G (p.*1621=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15601424A>G"	""	"likely benign"	""
"0000255897"	"0"	"50"	"4"	"15560843"	"15560843"	"subst"	"0.000107708"	"01943"	"CC2D2A_000078"	"g.15560843A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.2885A>G (p.D962G), CC2D2A(NM_001378615.1):c.2885A>G (p.(Asp962Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15559220A>G"	""	"VUS"	""
"0000255993"	"0"	"50"	"4"	"15565120"	"15565120"	"subst"	"4.9421E-5"	"01943"	"CC2D2A_000080"	"g.15565120A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.3157A>G (p.I1053V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15563497A>G"	""	"VUS"	""
"0000264348"	"0"	"10"	"4"	"15529057"	"15529057"	"subst"	"0"	"02330"	"CC2D2A_000060"	"g.15529057C>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1150-13C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15527434C>G"	""	"benign"	""
"0000264349"	"0"	"10"	"4"	"15539735"	"15539735"	"subst"	"0.0013924"	"02330"	"CC2D2A_000067"	"g.15539735G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1978G>A (p.V660I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15538112G>A"	""	"benign"	""
"0000264350"	"0"	"10"	"4"	"15482861"	"15482861"	"subst"	"0.000142735"	"02330"	"CC2D2A_000038"	"g.15482861G>A"	""	""	""	"CC2D2A(NM_001164720.2):c.288G>A (p.T96=), CC2D2A(NM_001164720.3):c.288G>A (p.T96=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15481237G>A"	""	"benign"	""
"0000264352"	"0"	"10"	"4"	"15569097"	"15569097"	"subst"	"3.2737E-5"	"02330"	"CC2D2A_000081"	"g.15569097C>G"	""	""	""	"CC2D2A(NM_001080522.2):c.3280C>G (p.L1094V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15567474C>G"	""	"benign"	""
"0000264353"	"0"	"70"	"4"	"15504141"	"15504141"	"subst"	"0"	"02330"	"CC2D2A_000044"	"g.15504141G>T"	""	""	""	"CC2D2A(NM_001080522.2):c.336+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15502518G>T"	""	"likely pathogenic"	""
"0000264354"	"0"	"10"	"4"	"15572034"	"15572034"	"subst"	"0.00155956"	"02330"	"CC2D2A_000119"	"g.15572034G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.3509G>A (p.R1170K, p.(Arg1170Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15570411G>A"	""	"benign"	""
"0000264355"	"0"	"10"	"4"	"15504463"	"15504463"	"subst"	"0.000504833"	"02330"	"CC2D2A_000046"	"g.15504463T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.355T>C (p.L119=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15502840T>C"	""	"benign"	""
"0000264356"	"0"	"10"	"4"	"15587818"	"15587818"	"subst"	"0"	"02330"	"CC2D2A_000087"	"g.15587818G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4014G>A (p.L1338=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15586195G>A"	""	"benign"	""
"0000264357"	"0"	"10"	"4"	"15597695"	"15597695"	"subst"	"2.71935E-5"	"02330"	"CC2D2A_000122"	"g.15597695T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.4315-13T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15596072T>C"	""	"benign"	""
"0000264358"	"0"	"90"	"4"	"15599081"	"15599081"	"subst"	"0"	"02330"	"CC2D2A_000089"	"g.15599081C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.4489C>T (p.Q1497*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15597458C>T"	""	"pathogenic"	""
"0000264359"	"0"	"10"	"4"	"15602845"	"15602845"	"subst"	"0.000134436"	"02330"	"CC2D2A_000094"	"g.15602845G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4675-15G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15601222G>A"	""	"benign"	""
"0000264360"	"0"	"10"	"4"	"15513014"	"15513016"	"del"	"0"	"02330"	"CC2D2A_000051"	"g.15513014_15513016del"	""	""	""	"CC2D2A(NM_001080522.2):c.685_687delGAA (p.E229del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15511391_15511393del"	""	"benign"	""
"0000264361"	"0"	"30"	"4"	"15517532"	"15517532"	"subst"	"0.00124224"	"02330"	"CC2D2A_000057"	"g.15517532T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.922T>C (p.F308L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15515909T>C"	""	"likely benign"	""
"0000266516"	"0"	"10"	"4"	"15539779"	"15539779"	"subst"	"0.112126"	"02325"	"CC2D2A_000069"	"g.15539779C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2003+19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15538156C>T"	""	"benign"	""
"0000266517"	"0"	"30"	"4"	"15512850"	"15512850"	"subst"	"0.00685787"	"02325"	"CC2D2A_000048"	"g.15512850T>G"	""	""	""	"CC2D2A(NM_001080522.2):c.541-20T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15511227T>G"	""	"likely benign"	""
"0000266518"	"0"	"10"	"4"	"15513014"	"15513016"	"del"	"0"	"02325"	"CC2D2A_000002"	"g.15513014_15513016del"	""	""	""	"CC2D2A(NM_001080522.2):c.685_687delGAA (p.E229del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15511391_15511393del"	""	"benign"	""
"0000269829"	"0"	"10"	"4"	"15483004"	"15483004"	"subst"	"0"	"02326"	"CC2D2A_000041"	"g.15483004G>A"	""	""	""	"CC2D2A(NM_020785.2):c.*168G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15481380G>A"	""	"benign"	""
"0000269830"	"0"	"30"	"4"	"15483202"	"15483202"	"subst"	"0"	"02326"	"CC2D2A_000042"	"g.15483202C>T"	""	""	""	"CC2D2A(NM_020785.2):c.*366C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15481578C>T"	""	"likely benign"	""
"0000269831"	"0"	"10"	"4"	"15482904"	"15482904"	"subst"	"0.022719"	"02326"	"CC2D2A_000040"	"g.15482904G>A"	""	""	""	"CC2D2A(NM_001164720.1):c.331G>A (p.(Gly111Arg)), CC2D2A(NM_020785.2):c.*68G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15481280G>A"	""	"benign"	""
"0000269832"	"0"	"90"	"4"	"15480876"	"15480876"	"subst"	"0"	"02326"	"CC2D2A_000033"	"g.15480876G>A"	""	""	""	"CC2D2A(NM_020785.2):c.153G>A (p.W51*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15479252G>A"	""	"pathogenic"	""
"0000269833"	"0"	"10"	"4"	"15482360"	"15482360"	"subst"	"0.0861799"	"02326"	"CC2D2A_000035"	"g.15482360C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.156C>T (p.S52=), CC2D2A(NM_020785.2):c.262C>T (p.R88*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15480736C>T"	""	"benign"	""
"0000269834"	"0"	"10"	"4"	"15504020"	"15504020"	"del"	"0"	"02326"	"CC2D2A_000043"	"g.15504020del"	""	""	""	"CC2D2A(NM_001080522.2):c.248-32delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15502397del"	""	"benign"	""
"0000269836"	"0"	"10"	"4"	"15602773"	"15602773"	"del"	"0"	"02326"	"CC2D2A_000093"	"g.15602773del"	""	""	""	"CC2D2A(NM_001080522.2):c.4675-87delC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15601150del"	""	"benign"	""
"0000269838"	"0"	"10"	"4"	"15512845"	"15512845"	"subst"	"0.00964586"	"02326"	"CC2D2A_000047"	"g.15512845G>T"	""	""	""	"CC2D2A(NM_001080522.2):c.541-25G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15511222G>T"	""	"benign"	""
"0000269839"	"0"	"30"	"4"	"15513014"	"15513016"	"del"	"0"	"02326"	"CC2D2A_000051"	"g.15513014_15513016del"	""	""	""	"CC2D2A(NM_001080522.2):c.685_687delGAA (p.E229del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15511391_15511393del"	""	"likely benign"	""
"0000269840"	"0"	"90"	"4"	"15517555"	"15517555"	"subst"	"0"	"02326"	"CC2D2A_000058"	"g.15517555C>A"	""	""	""	"CC2D2A(NM_001080522.2):c.945C>A (p.Y315*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15515932C>A"	""	"pathogenic"	""
"0000272698"	"0"	"30"	"4"	"15529082"	"15529082"	"subst"	"0.000543509"	"01943"	"CC2D2A_000061"	"g.15529082G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1162G>A (p.V388I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15527459G>A"	""	"likely benign"	""
"0000272699"	"0"	"10"	"4"	"15482322"	"15482322"	"subst"	"0.110021"	"01943"	"CC2D2A_000034"	"g.15482322C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.124-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15480698C>T"	""	"benign"	""
"0000272700"	"0"	"90"	"4"	"15529187"	"15529187"	"subst"	"0"	"01943"	"CC2D2A_000062"	"g.15529187C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.1267C>T (p.R423*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15527564C>T"	""	"pathogenic"	""
"0000272701"	"0"	"10"	"4"	"15482360"	"15482360"	"subst"	"0.0861799"	"01943"	"CC2D2A_000035"	"g.15482360C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.156C>T (p.S52=), CC2D2A(NM_020785.2):c.262C>T (p.R88*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15480736C>T"	""	"benign"	""
"0000272702"	"0"	"30"	"4"	"15538657"	"15538657"	"subst"	"1.22037E-5"	"01943"	"CC2D2A_000064"	"g.15538657C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.1722C>T (p.Y574=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15537034C>T"	""	"likely benign"	""
"0000272703"	"0"	"50"	"4"	"15539514"	"15539514"	"subst"	"0"	"01943"	"CC2D2A_000065"	"g.15539514C>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1765-8C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15537891C>G"	""	"VUS"	""
"0000272704"	"0"	"50"	"4"	"15539646"	"15539646"	"subst"	"0"	"01943"	"CC2D2A_000066"	"g.15539646T>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1889T>G (p.I630R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15538023T>G"	""	"VUS"	""
"0000272705"	"0"	"50"	"4"	"15539741"	"15539741"	"subst"	"0"	"01943"	"CC2D2A_000068"	"g.15539741C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.1984C>T (p.P662S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15538118C>T"	""	"VUS"	""
"0000272706"	"0"	"10"	"4"	"15539779"	"15539779"	"subst"	"0.112126"	"01943"	"CC2D2A_000069"	"g.15539779C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2003+19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15538156C>T"	""	"benign"	""
"0000272707"	"0"	"30"	"4"	"15542495"	"15542495"	"subst"	"0.00011646"	"01943"	"CC2D2A_000070"	"g.15542495G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.2039G>A (p.R680H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15540872G>A"	""	"likely benign"	""
"0000272708"	"0"	"50"	"4"	"15542618"	"15542618"	"subst"	"2.66731E-5"	"01943"	"CC2D2A_000071"	"g.15542618C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2162C>T (p.P721L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15540995C>T"	""	"VUS"	""
"0000272709"	"0"	"30"	"4"	"15552524"	"15552524"	"subst"	"0.000244008"	"01943"	"CC2D2A_000073"	"g.15552524C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2259C>T (p.V753=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15550901C>T"	""	"likely benign"	""
"0000272710"	"0"	"30"	"4"	"15554925"	"15554925"	"subst"	"6.13969E-5"	"01943"	"CC2D2A_000075"	"g.15554925G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.2483G>A (p.R828Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15553302G>A"	""	"likely benign"	""
"0000272711"	"0"	"50"	"4"	"15482830"	"15482830"	"subst"	"7.80287E-5"	"01943"	"CC2D2A_000037"	"g.15482830T>C"	""	""	""	"CC2D2A(NM_001164720.1):c.257T>C (p.V86A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15481206T>C"	""	"VUS"	""
"0000272712"	"0"	"90"	"4"	"15560806"	"15560806"	"subst"	"0"	"01943"	"CC2D2A_000077"	"g.15560806C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2848C>T (p.R950*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15559183C>T"	""	"pathogenic"	""
"0000272713"	"0"	"90"	"4"	"15560871"	"15560871"	"subst"	"0"	"01943"	"CC2D2A_000115"	"g.15560871C>A"	""	""	""	"CC2D2A(NM_001080522.2):c.2913C>A (p.Y971*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15559248C>A"	""	"pathogenic"	""
"0000272714"	"0"	"30"	"4"	"15560890"	"15560890"	"dup"	"0"	"01943"	"CC2D2A_000079"	"g.15560890dup"	""	""	""	"CC2D2A(NM_001080522.2):c.2922+10dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15559267dup"	""	"likely benign"	""
"0000272715"	"0"	"30"	"4"	"15562141"	"15562141"	"subst"	"0"	"01943"	"CC2D2A_000117"	"g.15562141T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.2923-13T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15560518T>C"	""	"likely benign"	""
"0000272716"	"0"	"10"	"4"	"15569018"	"15569018"	"subst"	"0.214236"	"01943"	"CC2D2A_000102"	"g.15569018G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.3201G>A (p.S1067=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15567395G>A"	""	"benign"	""
"0000272717"	"0"	"50"	"4"	"15482421"	"15482421"	"subst"	"8.25246E-6"	"01943"	"CC2D2A_000036"	"g.15482421C>T"	""	""	""	"CC2D2A(NM_020785.2):c.323C>T (p.P108L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15480797C>T"	""	"VUS"	""
"0000272718"	"0"	"90"	"4"	"15569107"	"15569107"	"del"	"0"	"01943"	"CC2D2A_000118"	"g.15569107del"	""	""	""	"CC2D2A(NM_001080522.2):c.3288+2delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15567484del"	""	"pathogenic"	""
"0000272719"	"0"	"50"	"4"	"15482903"	"15482903"	"subst"	"0.00202007"	"01943"	"CC2D2A_000039"	"g.15482903C>T"	""	""	""	"CC2D2A(NM_001164720.1):c.330C>T (p.G110=), CC2D2A(NM_001164720.2):c.330C>T (p.G110=), CC2D2A(NM_001164720.3):c.330C>T (p.G110=, p.(Gly110=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15481279C>T"	""	"VUS"	""
"0000272720"	"0"	"90"	"4"	"15569336"	"15569336"	"subst"	"1.69529E-5"	"01943"	"CC2D2A_000082"	"g.15569336C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.3325C>T (p.R1109*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15567713C>T"	""	"pathogenic"	""
"0000272721"	"0"	"50"	"4"	"15572028"	"15572028"	"subst"	"8.94226E-5"	"01943"	"CC2D2A_000083"	"g.15572028G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.3503G>A (p.R1168H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15570405G>A"	""	"VUS"	""
"0000272722"	"0"	"50"	"4"	"15504459"	"15504459"	"subst"	"0.00127095"	"01943"	"CC2D2A_000045"	"g.15504459T>G"	""	""	""	"CC2D2A(NM_001080522.2):c.351T>G (p.S117R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15502836T>G"	""	"VUS"	""
"0000272723"	"0"	"30"	"4"	"15504463"	"15504463"	"subst"	"0.000504833"	"01943"	"CC2D2A_000046"	"g.15504463T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.355T>C (p.L119=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15502840T>C"	""	"likely benign"	""
"0000272725"	"0"	"90"	"4"	"15575950"	"15575950"	"subst"	"0"	"01943"	"CC2D2A_000085"	"g.15575950G>C"	""	""	""	"CC2D2A(NM_001080522.2):c.3771+1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15574327G>C"	""	"pathogenic"	""
"0000272726"	"0"	"30"	"4"	"15589454"	"15589454"	"subst"	"0"	"01943"	"CC2D2A_000121"	"g.15589454C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.4081C>T (p.L1361=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15587831C>T"	""	"likely benign"	""
"0000272727"	"0"	"30"	"4"	"15597741"	"15597741"	"subst"	"6.64417E-6"	"01943"	"CC2D2A_000088"	"g.15597741C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.4348C>T (p.L1450=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15596118C>T"	""	"likely benign"	""
"0000272728"	"0"	"30"	"4"	"15599052"	"15599052"	"subst"	"0"	"01943"	"CC2D2A_000123"	"g.15599052G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4460G>A (p.R1487H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15597429G>A"	""	"likely benign"	""
"0000272729"	"0"	"50"	"4"	"15601165"	"15601165"	"subst"	"0"	"01943"	"CC2D2A_000090"	"g.15601165C>G"	""	""	""	"CC2D2A(NM_001080522.2):c.4510C>G (p.L1504V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15599542C>G"	""	"VUS"	""
"0000272730"	"0"	"30"	"4"	"15512850"	"15512850"	"subst"	"0.00685787"	"01943"	"CC2D2A_000048"	"g.15512850T>G"	""	""	""	"CC2D2A(NM_001080522.2):c.541-20T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15511227T>G"	""	"likely benign"	""
"0000272731"	"0"	"30"	"4"	"15512865"	"15512865"	"subst"	"0.00010098"	"01943"	"CC2D2A_000049"	"g.15512865G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.541-5G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15511242G>A"	""	"likely benign"	""
"0000272732"	"0"	"50"	"4"	"15512919"	"15512919"	"subst"	"3.49623E-5"	"01943"	"CC2D2A_000050"	"g.15512919T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.590T>C (p.F197S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15511296T>C"	""	"VUS"	""
"0000272733"	"0"	"10"	"4"	"15513014"	"15513016"	"del"	"0"	"01943"	"CC2D2A_000002"	"g.15513014_15513016del"	""	""	""	"CC2D2A(NM_001080522.2):c.685_687delGAA (p.E229del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15511391_15511393del"	""	"benign"	""
"0000272734"	"0"	"10"	"4"	"15516389"	"15516389"	"subst"	"0.0526746"	"01943"	"CC2D2A_000054"	"g.15516389C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.777C>T (p.H259=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15514766C>T"	""	"benign"	""
"0000272735"	"0"	"30"	"4"	"15516398"	"15516398"	"subst"	"0"	"01943"	"CC2D2A_000055"	"g.15516398C>A"	""	""	""	"CC2D2A(NM_001080522.2):c.786C>A (p.D262E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15514775C>A"	""	"likely benign"	""
"0000272737"	"0"	"30"	"4"	"15517532"	"15517532"	"subst"	"0.00124224"	"01943"	"CC2D2A_000057"	"g.15517532T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.922T>C (p.F308L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15515909T>C"	""	"likely benign"	""
"0000329913"	"0"	"30"	"4"	"15559114"	"15559114"	"subst"	"0.000334498"	"01804"	"CC2D2A_000076"	"g.15559114T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.2813T>C (p.M938T, p.(Met938Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15557491T>C"	""	"likely benign"	""
"0000329914"	"0"	"50"	"4"	"15560833"	"15560833"	"del"	"0"	"01804"	"CC2D2A_000029"	"g.15560833del"	""	""	""	"CC2D2A(NM_001080522.2):c.2874delG (p.(Glu959AsnfsTer3)), CC2D2A(NM_001080522.2):c.2875delG (p.E959Nfs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15559210del"	""	"VUS"	""
"0000337286"	"0"	"10"	"4"	"15568992"	"15568992"	"subst"	"0.708913"	"02327"	"CC2D2A_000101"	"g.15568992T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.3183-8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15567369T>C"	""	"benign"	""
"0000337288"	"0"	"10"	"4"	"15603069"	"15603069"	"subst"	"0.577936"	"02327"	"CC2D2A_000112"	"g.15603069G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15601446G>C"	""	"benign"	""
"0000339490"	"0"	"10"	"4"	"15569018"	"15569018"	"subst"	"0.214236"	"02327"	"CC2D2A_000102"	"g.15569018G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.3201G>A (p.S1067=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15567395G>A"	""	"benign"	""
"0000340966"	"0"	"10"	"4"	"15482360"	"15482360"	"subst"	"0.0861799"	"02327"	"CC2D2A_000035"	"g.15482360C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.156C>T (p.S52=), CC2D2A(NM_020785.2):c.262C>T (p.R88*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15480736C>T"	""	"benign"	""
"0000341071"	"0"	"50"	"4"	"15575949"	"15575949"	"subst"	"0"	"02327"	"CC2D2A_000108"	"g.15575949G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15574326G>A"	""	"VUS"	""
"0000343474"	"0"	"70"	"4"	"15559029"	"15559029"	"subst"	"1.22389E-5"	"02327"	"CC2D2A_000099"	"g.15559029C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15557406C>T"	""	"likely pathogenic"	""
"0000344015"	"0"	"50"	"4"	"15516357"	"15516357"	"subst"	"0"	"02327"	"CC2D2A_000097"	"g.15516357G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15514734G>A"	""	"VUS"	""
"0000344499"	"0"	"50"	"4"	"15569105"	"15569105"	"subst"	"0"	"02327"	"CC2D2A_000103"	"g.15569105G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15567482G>C"	""	"VUS"	""
"0000344909"	"0"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"02327"	"CC2D2A_000007"	"g.15538697C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic"	""
"0000345089"	"0"	"90"	"4"	"15575845"	"15575845"	"subst"	"0"	"02327"	"CC2D2A_000107"	"g.15575845G>T"	""	""	""	"CC2D2A(NM_001378615.1):c.3667G>T (p.(Glu1223*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15574222G>T"	""	"pathogenic"	""
"0000345273"	"0"	"90"	"4"	"15513041"	"15513041"	"subst"	"5.5043E-6"	"02327"	"CC2D2A_000096"	"g.15513041G>T"	""	""	""	"CC2D2A(NM_001080522.2):c.712G>T (p.E238*, p.(Glu238*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15511418G>T"	""	"pathogenic"	""
"0000345713"	"0"	"70"	"4"	"15589553"	"15589553"	"del"	"0"	"02327"	"CC2D2A_000109"	"g.15589553del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15587930del"	""	"likely pathogenic"	""
"0000346384"	"0"	"50"	"4"	"15602936"	"15602936"	"subst"	"0"	"02327"	"CC2D2A_000111"	"g.15602936A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15601313A>C"	""	"VUS"	""
"0000346593"	"0"	"50"	"4"	"15602909"	"15602909"	"subst"	"2.04247E-5"	"02327"	"CC2D2A_000110"	"g.15602909T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15601286T>C"	""	"VUS"	""
"0000348140"	"0"	"70"	"4"	"15569375"	"15569375"	"subst"	"4.30296E-6"	"02327"	"CC2D2A_000105"	"g.15569375C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15567752C>T"	""	"likely pathogenic"	""
"0000348151"	"0"	"50"	"4"	"15572091"	"15572091"	"subst"	"0"	"02327"	"CC2D2A_000106"	"g.15572091C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.3566C>T (p.P1189L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15570468C>T"	""	"VUS"	""
"0000349676"	"0"	"90"	"4"	"15572069"	"15572069"	"subst"	"2.90384E-5"	"02327"	"CC2D2A_000022"	"g.15572069T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.3544T>C (p.W1182R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15570446T>C"	""	"pathogenic"	""
"0000350113"	"0"	"50"	"4"	"15530334"	"15530334"	"subst"	"7.40527E-5"	"02327"	"CC2D2A_000098"	"g.15530334A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1451A>G (p.(Tyr484Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15528711A>G"	""	"VUS"	""
"0000350945"	"0"	"10"	"4"	"15482322"	"15482322"	"subst"	"0.110021"	"02327"	"CC2D2A_000034"	"g.15482322C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.124-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15480698C>T"	""	"benign"	""
"0000350946"	"0"	"10"	"4"	"15539779"	"15539779"	"subst"	"0.112126"	"02327"	"CC2D2A_000069"	"g.15539779C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2003+19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15538156C>T"	""	"benign"	""
"0000459811"	"3"	"90"	"4"	"15565047"	"15565047"	"del"	"0"	"00006"	"CC2D2A_000100"	"g.15565047del"	""	"{PMID:Shaheen 2013:23169490}"	""	"3084delG"	""	"Germline"	""	""	"0"	""	""	"g.15563424del"	""	"pathogenic (recessive)"	""
"0000459812"	"3"	"90"	"4"	"15565047"	"15565047"	"del"	"0"	"00006"	"CC2D2A_000100"	"g.15565047del"	""	"{PMID:Shaheen 2013:23169490}"	""	"3084delG"	""	"Germline"	""	""	"0"	""	""	"g.15563424del"	""	"pathogenic (recessive)"	""
"0000459813"	"3"	"90"	"4"	"15601186"	"15601186"	"subst"	"0"	"00006"	"CC2D2A_000124"	"g.15601186T>C"	""	"{PMID:Shaheen 2013:23169490}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15599563T>C"	""	"pathogenic (recessive)"	""
"0000459814"	"3"	"90"	"4"	"15565047"	"15565047"	"del"	"0"	"00006"	"CC2D2A_000100"	"g.15565047del"	""	"{PMID:Shaheen 2013:23169490}"	""	"3084delG"	""	"Germline"	""	""	"0"	""	""	"g.15563424del"	""	"pathogenic (recessive)"	""
"0000459815"	"3"	"90"	"4"	"15565047"	"15565047"	"del"	"0"	"00006"	"CC2D2A_000100"	"g.15565047del"	""	"{PMID:Shaheen 2013:23169490}"	""	"3084delG"	""	"Germline"	""	""	"0"	""	""	"g.15563424del"	""	"pathogenic (recessive)"	""
"0000459816"	"3"	"90"	"4"	"15601186"	"15601186"	"subst"	"0"	"00006"	"CC2D2A_000124"	"g.15601186T>C"	""	"{PMID:Shaheen 2013:23169490}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15599563T>C"	""	"pathogenic (recessive)"	""
"0000459829"	"3"	"90"	"4"	"15542617"	"15542617"	"subst"	"0.00241797"	"00006"	"CC2D2A_000126"	"g.15542617C>T"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15540994C>T"	""	"pathogenic (recessive)"	""
"0000459830"	"1"	"90"	"4"	"15569352"	"15569352"	"subst"	"3.38304E-5"	"00006"	"CC2D2A_000013"	"g.15569352C>T"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567729C>T"	""	"pathogenic (recessive)"	""
"0000459831"	"3"	"90"	"4"	"15570915"	"15581795"	"del"	"0"	"00006"	"CC2D2A_000015"	"g.(15569410_15570915)_(15581795_15587779)del"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000459832"	"3"	"90"	"4"	"15570915"	"15581795"	"del"	"0"	"00006"	"CC2D2A_000015"	"g.(15569410_15570915)_(15581795_15587779)del"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000459833"	"3"	"90"	"4"	"15570915"	"15581795"	"del"	"0"	"00006"	"CC2D2A_000015"	"g.(15569410_15570915)_(15581795_15587779)del"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000459834"	"3"	"90"	"4"	"15570915"	"15581795"	"del"	"0"	"00006"	"CC2D2A_000015"	"g.(15569410_15570915)_(15581795_15587779)del"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000459835"	"3"	"90"	"4"	"15511840"	"15511840"	"subst"	"8.26194E-6"	"00006"	"CC2D2A_000003"	"g.15511840C>T"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15510217C>T"	""	"pathogenic (recessive)"	""
"0000459836"	"3"	"90"	"4"	"15570913"	"15570913"	"subst"	"0"	"00006"	"CC2D2A_000014"	"g.15570913C>A"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15569290C>A"	""	"pathogenic (recessive)"	""
"0000459837"	"3"	"90"	"4"	"15572109"	"15572109"	"del"	"0"	"00006"	"CC2D2A_000127"	"g.15572109del"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"3584delT"	""	"Germline"	"yes"	""	"0"	""	""	"g.15570486del"	""	"pathogenic (recessive)"	""
"0000459838"	"3"	"90"	"4"	"15572109"	"15572109"	"del"	"0"	"00006"	"CC2D2A_000127"	"g.15572109del"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"3584delT"	""	"Germline"	"yes"	""	"0"	""	""	"g.15570486del"	""	"pathogenic (recessive)"	""
"0000459839"	"3"	"90"	"4"	"15572109"	"15572109"	"del"	"0"	"00006"	"CC2D2A_000127"	"g.15572109del"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"3584delT"	""	"Germline"	"yes"	""	"0"	""	""	"g.15570486del"	""	"pathogenic (recessive)"	""
"0000459840"	"3"	"90"	"4"	"15565047"	"15565047"	"del"	"0"	"00006"	"CC2D2A_000100"	"g.15565047del"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"3084delG"	""	"Germline"	""	""	"0"	""	""	"g.15563424del"	""	"pathogenic (recessive)"	""
"0000459841"	"3"	"90"	"4"	"15565108"	"15565108"	"subst"	"0"	"00006"	"CC2D2A_000011"	"g.15565108C>G"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"3145C>G (Arg1049X)"	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000459842"	"3"	"90"	"4"	"15565108"	"15565108"	"subst"	"0"	"00006"	"CC2D2A_000011"	"g.15565108C>G"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"3145C>G (Arg1049X)"	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000459843"	"1"	"90"	"4"	"15572047"	"15572048"	"ins"	"0"	"00006"	"CC2D2A_000016"	"g.15572047_15572048insTG"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15570424_15570425insTG"	""	"pathogenic (recessive)"	""
"0000459844"	"1"	"90"	"4"	"15572047"	"15572048"	"ins"	"0"	"00006"	"CC2D2A_000016"	"g.15572047_15572048insTG"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15570424_15570425insTG"	""	"pathogenic (recessive)"	""
"0000459845"	"11"	"90"	"4"	"15534887"	"15534887"	"subst"	"0"	"00006"	"CC2D2A_000006"	"g.15534887G>A"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"1538T>A"	""	"Germline"	""	""	"0"	""	""	"g.15533264G>A"	""	"pathogenic (recessive)"	""
"0000459846"	"1"	"90"	"4"	"15559074"	"15559074"	"subst"	"1.2342E-5"	"00006"	"CC2D2A_000009"	"g.15559074C>T"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"2673C>T (Arg925X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.15557451C>T"	""	"pathogenic (recessive)"	""
"0000459847"	"1"	"90"	"4"	"15559074"	"15559074"	"subst"	"1.2342E-5"	"00006"	"CC2D2A_000009"	"g.15559074C>T"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"2673C>T (Arg925X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.15557451C>T"	""	"pathogenic (recessive)"	""
"0000459848"	"1"	"90"	"4"	"15559074"	"15559074"	"subst"	"1.2342E-5"	"00006"	"CC2D2A_000009"	"g.15559074C>T"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"2673C>T (Arg925X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.15557451C>T"	""	"pathogenic (recessive)"	""
"0000459849"	"1"	"90"	"4"	"15559074"	"15559074"	"subst"	"1.2342E-5"	"00006"	"CC2D2A_000009"	"g.15559074C>T"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"2673C>T (Arg925X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.15557451C>T"	""	"pathogenic (recessive)"	""
"0000459850"	"1"	"90"	"4"	"15529259"	"15529259"	"del"	"0"	"00006"	"CC2D2A_000005"	"g.15529259del"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"1339delG"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.15527636del"	""	"pathogenic (recessive)"	""
"0000459851"	"1"	"90"	"4"	"15516446"	"15516446"	"del"	"0"	"00006"	"CC2D2A_000125"	"g.15516446del"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"834delG"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.15514823del"	""	"pathogenic (recessive)"	""
"0000459852"	"2"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00006"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15599699A>T"	""	"pathogenic (recessive)"	""
"0000459853"	"2"	"90"	"4"	"15599090"	"15599090"	"subst"	"0"	"00006"	"CC2D2A_000021"	"g.15599090T>A"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15597467T>A"	""	"pathogenic (recessive)"	""
"0000459854"	"2"	"90"	"4"	"15599090"	"15599090"	"subst"	"0"	"00006"	"CC2D2A_000021"	"g.15599090T>A"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15597467T>A"	""	"pathogenic (recessive)"	""
"0000459855"	"21"	"90"	"4"	"15589553"	"15589553"	"del"	"0"	"00006"	"CC2D2A_000020"	"g.15589553del"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	"4179+1delG"	""	"Germline"	""	""	"0"	""	""	"g.15587930del"	""	"pathogenic (recessive)"	""
"0000459856"	"2"	"90"	"4"	"15554929"	"15554929"	"subst"	"4.09937E-6"	"00006"	"CC2D2A_000008"	"g.15554929G>C"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15553306G>C"	""	"pathogenic (recessive)"	""
"0000459857"	"2"	"90"	"4"	"15554929"	"15554929"	"subst"	"4.09937E-6"	"00006"	"CC2D2A_000008"	"g.15554929G>C"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15553306G>C"	""	"pathogenic (recessive)"	""
"0000459858"	"2"	"90"	"4"	"15554929"	"15554929"	"subst"	"4.09937E-6"	"00006"	"CC2D2A_000008"	"g.15554929G>C"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15553306G>C"	""	"pathogenic (recessive)"	""
"0000459859"	"2"	"90"	"4"	"15554929"	"15554929"	"subst"	"4.09937E-6"	"00006"	"CC2D2A_000008"	"g.15554929G>C"	""	"{PMID:Mougou-Zerelli 2009:19777577}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15553306G>C"	""	"pathogenic (recessive)"	""
"0000521838"	"0"	"30"	"4"	"15482870"	"15482870"	"subst"	"0.00025434"	"01943"	"CC2D2A_000130"	"g.15482870C>T"	""	""	""	"CC2D2A(NM_001164720.1):c.297C>T (p.H99=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15481246C>T"	""	"likely benign"	""
"0000521839"	"0"	"30"	"4"	"15482903"	"15482903"	"subst"	"0.00202007"	"02330"	"CC2D2A_000039"	"g.15482903C>T"	""	""	""	"CC2D2A(NM_001164720.1):c.330C>T (p.G110=), CC2D2A(NM_001164720.2):c.330C>T (p.G110=), CC2D2A(NM_001164720.3):c.330C>T (p.G110=, p.(Gly110=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15481279C>T"	""	"likely benign"	""
"0000521840"	"0"	"10"	"4"	"15482904"	"15482904"	"subst"	"0.022719"	"01804"	"CC2D2A_000040"	"g.15482904G>A"	""	""	""	"CC2D2A(NM_001164720.1):c.331G>A (p.(Gly111Arg)), CC2D2A(NM_020785.2):c.*68G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15481280G>A"	""	"benign"	""
"0000521841"	"0"	"50"	"4"	"15504084"	"15504084"	"subst"	"0"	"01943"	"CC2D2A_000131"	"g.15504084G>C"	""	""	""	"CC2D2A(NM_001080522.2):c.280G>C (p.G94R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15502461G>C"	""	"VUS"	""
"0000521842"	"0"	"30"	"4"	"15504459"	"15504459"	"subst"	"0.00127095"	"02330"	"CC2D2A_000045"	"g.15504459T>G"	""	""	""	"CC2D2A(NM_001080522.2):c.351T>G (p.S117R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15502836T>G"	""	"likely benign"	""
"0000521843"	"0"	"10"	"4"	"15504540"	"15504540"	"subst"	"4.26054E-6"	"02330"	"CC2D2A_000132"	"g.15504540C>G"	""	""	""	"CC2D2A(NM_001080522.2):c.432C>G (p.G144=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15502917C>G"	""	"benign"	""
"0000521845"	"0"	"30"	"4"	"15516374"	"15516374"	"subst"	"0.00141018"	"02330"	"CC2D2A_000053"	"g.15516374A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.762A>G (p.L254=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15514751A>G"	""	"likely benign"	""
"0000521846"	"0"	"30"	"4"	"15516495"	"15516495"	"dup"	"0"	"01943"	"CC2D2A_000133"	"g.15516495dup"	""	""	""	"CC2D2A(NM_001080522.2):c.880+3dup (p.?), CC2D2A(NM_001080522.2):c.880+3dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15514872dup"	""	"likely benign"	""
"0000521847"	"0"	"90"	"4"	"15517628"	"15517628"	"subst"	"0"	"02327"	"CC2D2A_000134"	"g.15517628G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15516005G>C"	""	"pathogenic"	""
"0000521848"	"0"	"10"	"4"	"15518271"	"15518271"	"subst"	"0.000921163"	"02330"	"CC2D2A_000135"	"g.15518271C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.1041C>T (p.D347=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15516648C>T"	""	"benign"	""
"0000521856"	"0"	"30"	"4"	"15529285"	"15529285"	"subst"	"0"	"01943"	"CC2D2A_000136"	"g.15529285T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.1359+6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15527662T>C"	""	"likely benign"	""
"0000521857"	"0"	"10"	"4"	"15530275"	"15530275"	"subst"	"8.12486E-6"	"02330"	"CC2D2A_000137"	"g.15530275C>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1392C>G (p.G464=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15528652C>G"	""	"benign"	""
"0000521858"	"0"	"30"	"4"	"15534833"	"15534833"	"subst"	"5.11723E-5"	"02330"	"CC2D2A_000138"	"g.15534833G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1484G>A (p.R495H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15533210G>A"	""	"likely benign"	""
"0000521859"	"0"	"30"	"4"	"15534868"	"15534868"	"subst"	"0.00648421"	"01804"	"CC2D2A_000063"	"g.15534868A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1519A>G (p.K507E, p.(Lys507Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15533245A>G"	""	"likely benign"	""
"0000521861"	"0"	"30"	"4"	"15539523"	"15539523"	"subst"	"7.99421E-5"	"01943"	"CC2D2A_000139"	"g.15539523G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1766G>A (p.R589K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15537900G>A"	""	"likely benign"	""
"0000521863"	"0"	"10"	"4"	"15539578"	"15539578"	"subst"	"0.000317925"	"02330"	"CC2D2A_000140"	"g.15539578T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.1821T>C (p.I607=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15537955T>C"	""	"benign"	""
"0000521864"	"0"	"30"	"4"	"15539594"	"15539594"	"subst"	"0.000129319"	"01943"	"CC2D2A_000141"	"g.15539594G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1837G>A (p.E613K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15537971G>A"	""	"likely benign"	""
"0000521868"	"0"	"50"	"4"	"15542512"	"15542512"	"subst"	"0.000273642"	"02330"	"CC2D2A_000142"	"g.15542512G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.2056G>A (p.V686M), CC2D2A(NM_001378615.1):c.2056G>A (p.(Val686Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15540889G>A"	""	"VUS"	""
"0000521869"	"0"	"50"	"4"	"15542512"	"15542512"	"subst"	"0.000273642"	"01943"	"CC2D2A_000142"	"g.15542512G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.2056G>A (p.V686M), CC2D2A(NM_001378615.1):c.2056G>A (p.(Val686Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15540889G>A"	""	"VUS"	""
"0000521870"	"0"	"10"	"4"	"15542617"	"15542617"	"subst"	"0.00241797"	"02330"	"CC2D2A_000126"	"g.15542617C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2161C>T (p.P721S, p.(Pro721Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15540994C>T"	""	"benign"	""
"0000521871"	"0"	"50"	"4"	"15542617"	"15542617"	"subst"	"0.00241797"	"01943"	"CC2D2A_000126"	"g.15542617C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2161C>T (p.P721S, p.(Pro721Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15540994C>T"	""	"VUS"	""
"0000521872"	"0"	"30"	"4"	"15542617"	"15542617"	"subst"	"0.00241797"	"02326"	"CC2D2A_000126"	"g.15542617C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2161C>T (p.P721S, p.(Pro721Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15540994C>T"	""	"likely benign"	""
"0000521885"	"0"	"50"	"4"	"15554829"	"15554829"	"subst"	"3.3027E-5"	"01943"	"CC2D2A_000143"	"g.15554829T>G"	""	""	""	"CC2D2A(NM_001080522.2):c.2387T>G (p.M796R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15553206T>G"	""	"VUS"	""
"0000521886"	"0"	"50"	"4"	"15556805"	"15556805"	"subst"	"0.000162758"	"02330"	"CC2D2A_000144"	"g.15556805A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.2597A>G (p.N866S, p.(Asn866Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15555182A>G"	""	"VUS"	""
"0000521887"	"0"	"30"	"4"	"15556805"	"15556805"	"subst"	"0.000162758"	"01943"	"CC2D2A_000144"	"g.15556805A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.2597A>G (p.N866S, p.(Asn866Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15555182A>G"	""	"likely benign"	""
"0000521888"	"0"	"30"	"4"	"15556805"	"15556805"	"subst"	"0.000162758"	"01804"	"CC2D2A_000144"	"g.15556805A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.2597A>G (p.N866S, p.(Asn866Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15555182A>G"	""	"likely benign"	""
"0000521889"	"0"	"50"	"4"	"15556832"	"15556832"	"subst"	"7.76778E-5"	"01943"	"CC2D2A_000145"	"g.15556832C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2624C>T (p.S875L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15555209C>T"	""	"VUS"	""
"0000521890"	"0"	"50"	"4"	"15560843"	"15560843"	"subst"	"0.000107708"	"02330"	"CC2D2A_000078"	"g.15560843A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.2885A>G (p.D962G), CC2D2A(NM_001378615.1):c.2885A>G (p.(Asp962Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15559220A>G"	""	"VUS"	""
"0000521891"	"0"	"10"	"4"	"15560890"	"15560890"	"dup"	"0"	"02330"	"CC2D2A_000079"	"g.15560890dup"	""	""	""	"CC2D2A(NM_001080522.2):c.2922+10dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15559267dup"	""	"benign"	""
"0000521895"	"0"	"10"	"4"	"15568992"	"15568992"	"subst"	"0.708913"	"01943"	"CC2D2A_000101"	"g.15568992T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.3183-8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15567369T>C"	""	"benign"	""
"0000521896"	"0"	"10"	"4"	"15568992"	"15568992"	"subst"	"0.708913"	"02325"	"CC2D2A_000101"	"g.15568992T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.3183-8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15567369T>C"	""	"benign"	""
"0000521897"	"0"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"02326"	"CC2D2A_000104"	"g.15569300del"	""	""	""	"CC2D2A(NM_001080522.2):c.3289-1delG, CC2D2A(NM_001378615.1):c.3289del (p.(Val1097PhefsTer2))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15567677del"	""	"pathogenic"	""
"0000521898"	"0"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"02329"	"CC2D2A_000104"	"g.15569300del"	""	""	""	"CC2D2A(NM_001080522.2):c.3289-1delG, CC2D2A(NM_001378615.1):c.3289del (p.(Val1097PhefsTer2))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15567677del"	""	"pathogenic"	""
"0000521899"	"0"	"50"	"4"	"15575912"	"15575912"	"subst"	"0"	"01804"	"CC2D2A_000146"	"g.15575912A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.3734A>G (p.(Glu1245Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15574289A>G"	""	"VUS"	""
"0000521900"	"0"	"90"	"4"	"15575922"	"15575925"	"dup"	"0"	"01943"	"CC2D2A_000147"	"g.15575922_15575925dup"	""	""	""	"CC2D2A(NM_001080522.2):c.3744_3747dupGGTT (p.P1250Gfs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15574299_15574302dup"	""	"pathogenic"	""
"0000521901"	"0"	"30"	"4"	"15589434"	"15589434"	"subst"	"0"	"01943"	"CC2D2A_000148"	"g.15589434G>T"	""	""	""	"CC2D2A(NM_001080522.2):c.4066-5G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15587811G>T"	""	"likely benign"	""
"0000521903"	"0"	"50"	"4"	"15591190"	"15591190"	"subst"	"0.00266216"	"01943"	"CC2D2A_000149"	"g.15591190C>G"	""	""	""	"CC2D2A(NM_001080522.2):c.4202C>G (p.T1401S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15589567C>G"	""	"VUS"	""
"0000521905"	"0"	"30"	"4"	"15591284"	"15591284"	"subst"	"0.000316714"	"01943"	"CC2D2A_000151"	"g.15591284T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.4296T>C (p.C1432=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15589661T>C"	""	"likely benign"	""
"0000521907"	"0"	"50"	"4"	"15597777"	"15597777"	"subst"	"1.32294E-5"	"01943"	"CC2D2A_000153"	"g.15597777T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.4384T>C (p.W1462R), CC2D2A(NM_001378615.1):c.4384T>C (p.(Trp1462Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15596154T>C"	""	"VUS"	""
"0000521908"	"0"	"70"	"4"	"15597777"	"15597777"	"subst"	"1.32294E-5"	"02326"	"CC2D2A_000153"	"g.15597777T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.4384T>C (p.W1462R), CC2D2A(NM_001378615.1):c.4384T>C (p.(Trp1462Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15596154T>C"	""	"likely pathogenic"	""
"0000521909"	"0"	"70"	"4"	"15597831"	"15597831"	"subst"	"0"	"01943"	"CC2D2A_000154"	"g.15597831G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4437+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15596208G>A"	""	"likely pathogenic"	""
"0000521910"	"0"	"30"	"4"	"15599021"	"15599021"	"subst"	"0.00141118"	"01943"	"CC2D2A_000155"	"g.15599021C>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4438-9C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15597398C>A"	""	"likely benign"	""
"0000521911"	"0"	"50"	"4"	"15601198"	"15601198"	"subst"	"0"	"02330"	"CC2D2A_000156"	"g.15601198C>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4543C>A (p.H1515N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15599575C>A"	""	"VUS"	""
"0000521912"	"0"	"50"	"4"	"15601208"	"15601208"	"subst"	"0.000155928"	"01943"	"CC2D2A_000157"	"g.15601208G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4553G>A (p.R1518Q), CC2D2A(NM_001378615.1):c.4553G>A (p.(Arg1518Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15599585G>A"	""	"VUS"	""
"0000521913"	"0"	"10"	"4"	"15602771"	"15602772"	"ins"	"0"	"02326"	"CC2D2A_000158"	"g.15602771_15602772insTT"	""	""	""	"CC2D2A(NM_001080522.2):c.4675-89_4675-88insTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15601148_15601149insTT"	""	"benign"	""
"0000521914"	"0"	"10"	"4"	"15602775"	"15602777"	"dup"	"0"	"02326"	"CC2D2A_000159"	"g.15602775_15602777dup"	""	""	""	"CC2D2A(NM_001080522.2):c.4675-86_4675-84dupTTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15601152_15601154dup"	""	"benign"	""
"0000521915"	"0"	"50"	"4"	"15602873"	"15602873"	"subst"	"0"	"02329"	"CC2D2A_000160"	"g.15602873C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.4688C>T (p.(Pro1563Leu), p.P1563L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15601250C>T"	""	"VUS"	""
"0000604353"	"21"	"70"	"4"	"15517544"	"15517544"	"subst"	"0"	"03508"	"CC2D2A_000162"	"g.15517544G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15515921G>A"	""	"likely pathogenic (recessive)"	""
"0000604354"	"11"	"70"	"4"	"15559104"	"15559104"	"subst"	"0"	"03508"	"CC2D2A_000030"	"g.15559104C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15557481C>T"	""	"pathogenic (recessive)"	""
"0000609093"	"0"	"30"	"4"	"15516444"	"15516444"	"subst"	"0"	"01943"	"CC2D2A_000164"	"g.15516444C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.832C>T (p.R278W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15514821C>T"	""	"likely benign"	""
"0000609094"	"0"	"50"	"4"	"15539556"	"15539556"	"subst"	"4.65778E-5"	"01804"	"CC2D2A_000166"	"g.15539556A>C"	""	""	""	"CC2D2A(NM_001080522.2):c.1799A>C (p.(Glu600Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15537933A>C"	""	"VUS"	""
"0000609095"	"0"	"10"	"4"	"15539638"	"15539638"	"subst"	"0"	"02330"	"CC2D2A_000167"	"g.15539638G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1881G>A (p.R627=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15538015G>A"	""	"benign"	""
"0000609099"	"0"	"30"	"4"	"15572034"	"15572034"	"subst"	"0.00155956"	"01804"	"CC2D2A_000119"	"g.15572034G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.3509G>A (p.R1170K, p.(Arg1170Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15570411G>A"	""	"likely benign"	""
"0000609100"	"0"	"30"	"4"	"15601173"	"15601173"	"subst"	"2.27674E-5"	"01943"	"CC2D2A_000168"	"g.15601173A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.4518A>G (p.E1506=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15599550A>G"	""	"likely benign"	""
"0000621367"	"0"	"30"	"4"	"15482860"	"15482860"	"subst"	"0.000205784"	"01943"	"CC2D2A_000163"	"g.15482860C>T"	""	""	""	"CC2D2A(NM_001164720.1):c.287C>T (p.T96M, p.(Thr96Met)), CC2D2A(NM_001164720.2):c.287C>T (p.T96M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15481236C>T"	""	"likely benign"	""
"0000621368"	"0"	"90"	"4"	"15517628"	"15517628"	"subst"	"5.21549E-5"	"01943"	"CC2D2A_000165"	"g.15517628G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1017+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15516005G>A"	""	"pathogenic"	""
"0000647202"	"0"	"90"	"4"	"15565047"	"15565047"	"del"	"0"	"01164"	"CC2D2A_000100"	"g.15565047del"	""	""	""	""	"ACMG: PVS1,PM2,PM3,PP1; Psychomotoric retardation, dysmorphic features; Tallila et al. 2009. Hum Mutat 30: 813; Shaheen et al. 2016. Genome Biol 17: 242"	"Germline"	""	"rs764571764"	"0"	""	""	"g.15563424del"	""	"pathogenic"	"ACMG"
"0000647203"	"0"	"50"	"4"	"15570985"	"15570985"	"subst"	"0"	"01164"	"CC2D2A_000169"	"g.15570985T>G"	""	""	""	""	"psychomotoric retardation, dysmorphic features"	"Germline"	""	""	"0"	""	""	"g.15569362T>G"	""	"VUS"	"ACMG"
"0000651418"	"1"	"50"	"4"	"15504459"	"15504459"	"subst"	"0.00127095"	"03575"	"CC2D2A_000045"	"g.15504459T>G"	"8/2780 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; {DB:CLININrs186264635}"	"Germline"	""	"rs186264635"	"0"	""	""	"g.15502836T>G"	""	"VUS"	""
"0000651419"	"1"	"50"	"4"	"15511824"	"15511824"	"subst"	"0.000949331"	"03575"	"CC2D2A_000170"	"g.15511824G>T"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs190694237}"	"Germline"	""	"rs190694237"	"0"	""	""	"g.15510201G>T"	""	"VUS"	""
"0000651420"	"1"	"30"	"4"	"15512850"	"15512850"	"subst"	"0.00685787"	"03575"	"CC2D2A_000048"	"g.15512850T>G"	"20/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"20 heterozygous, no homozygous; {DB:CLININrs114335547}"	"Germline"	""	"rs114335547"	"0"	""	""	"g.15511227T>G"	""	"likely benign"	""
"0000651421"	"1"	"30"	"4"	"15516389"	"15516389"	"subst"	"0.0526746"	"03575"	"CC2D2A_000054"	"g.15516389C>T"	"177/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"177 heterozygous; {DB:CLININrs2286976}"	"Germline"	""	"rs2286976"	"0"	""	""	"g.15514766C>T"	""	"likely benign"	""
"0000651422"	"1"	"30"	"4"	"15534868"	"15534868"	"subst"	"0.00648421"	"03575"	"CC2D2A_000063"	"g.15534868A>G"	"16/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"16 heterozygous, no homozygous; {DB:CLININrs144439937}"	"Germline"	""	"rs144439937"	"0"	""	""	"g.15533245A>G"	""	"likely benign"	""
"0000651425"	"1"	"30"	"4"	"15591226"	"15591226"	"subst"	"0.000305509"	"03575"	"CC2D2A_000171"	"g.15591226G>A"	"3/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 heterozygous, no homozygous; {DB:CLININrs146843542}"	"Germline"	""	"rs146843542"	"0"	""	""	"g.15589603G>A"	""	"likely benign"	""
"0000651426"	"1"	"50"	"4"	"15601208"	"15601208"	"subst"	"0.000155928"	"03575"	"CC2D2A_000157"	"g.15601208G>A"	"6/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"6 heterozygous, no homozygous; {DB:CLININrs200645738}"	"Germline"	""	"rs200645738"	"0"	""	""	"g.15599585G>A"	""	"VUS"	""
"0000651427"	"1"	"50"	"4"	"15603037"	"15603037"	"subst"	"6.99639E-5"	"03575"	"CC2D2A_000172"	"g.15603037C>T"	"3/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 heterozygous, no homozygous; {DB:CLININrs201219078}"	"Germline"	""	"rs201219078"	"0"	""	""	"g.15601414C>T"	""	"VUS"	""
"0000653168"	"1"	"70"	"4"	"15565108"	"15565108"	"subst"	"2.06209E-5"	"03575"	"CC2D2A_000011"	"g.15565108C>T"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs386833750}"	"Germline"	""	"rs386833750"	"0"	""	""	"g.15563485C>T"	""	"likely pathogenic"	""
"0000655111"	"0"	"50"	"4"	"15482825"	"15482825"	"subst"	"0"	"01943"	"CC2D2A_000173"	"g.15482825G>C"	""	""	""	"CC2D2A(NM_020785.2):c.358G>C (p.A120P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15481201G>C"	""	"VUS"	""
"0000655112"	"0"	"30"	"4"	"15504091"	"15504091"	"subst"	"0"	"01943"	"CC2D2A_000174"	"g.15504091C>G"	""	""	""	"CC2D2A(NM_001080522.2):c.287C>G (p.A96G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15502468C>G"	""	"likely benign"	""
"0000655114"	"0"	"30"	"4"	"15570997"	"15570997"	"subst"	"0.00018502"	"01943"	"CC2D2A_000175"	"g.15570997G>T"	""	""	""	"CC2D2A(NM_001080522.2):c.3480G>T (p.L1160=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15569374G>T"	""	"likely benign"	""
"0000660682"	"3"	"50"	"4"	"15602971"	"15602971"	"subst"	"4.16948E-6"	"01164"	"CC2D2A_000176"	"g.15602971G>A"	""	""	""	""	""	"Germline"	""	"rs780190318"	"0"	""	""	"g.15601348G>A"	""	"VUS"	""
"0000669803"	"3"	"30"	"4"	"15516389"	"15516389"	"subst"	"0.0526746"	"03575"	"CC2D2A_000054"	"g.15516389C>T"	"6/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"6 homozygous; {DB:CLININrs2286976}"	"Germline"	""	"rs2286976"	"0"	""	""	"g.15514766C>T"	""	"likely benign"	""
"0000677212"	"0"	"50"	"4"	"15529176"	"15529176"	"subst"	"0"	"02325"	"CC2D2A_000177"	"g.15529176C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.1256C>T (p.P419L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000677213"	"0"	"50"	"4"	"15534832"	"15534832"	"subst"	"9.31463E-6"	"02325"	"CC2D2A_000178"	"g.15534832C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.1483C>T (p.R495C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000677215"	"0"	"50"	"4"	"15556742"	"15556742"	"subst"	"0"	"01804"	"CC2D2A_000179"	"g.15556742T>G"	""	""	""	"CC2D2A(NM_001080522.2):c.2534T>G (p.(Leu845Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000677216"	"0"	"30"	"4"	"15569078"	"15569078"	"subst"	"0"	"01943"	"CC2D2A_000180"	"g.15569078C>A"	""	""	""	"CC2D2A(NM_001080522.2):c.3261C>A (p.T1087=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000677217"	"0"	"70"	"4"	"15572069"	"15572069"	"subst"	"2.90384E-5"	"01943"	"CC2D2A_000022"	"g.15572069T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.3544T>C (p.W1182R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000677218"	"0"	"50"	"4"	"15587777"	"15587777"	"subst"	"8.1626E-6"	"01943"	"CC2D2A_000181"	"g.15587777C>A"	""	""	""	"CC2D2A(NM_001080522.2):c.3976-3C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000677219"	"0"	"70"	"4"	"15601237"	"15601237"	"subst"	"8.14001E-6"	"01943"	"CC2D2A_000182"	"g.15601237C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.4582C>T (p.R1528C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000689245"	"0"	"30"	"4"	"15504477"	"15504477"	"subst"	"0"	"01943"	"CC2D2A_000183"	"g.15504477C>A"	""	""	""	"CC2D2A(NM_001080522.2):c.369C>A (p.I123=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000689249"	"0"	"50"	"4"	"15581690"	"15581690"	"subst"	"0"	"01943"	"CC2D2A_000184"	"g.15581690A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.3871A>G (p.I1291V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000689250"	"0"	"30"	"4"	"15587809"	"15587809"	"subst"	"0.000252946"	"01943"	"CC2D2A_000185"	"g.15587809T>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4005T>A (p.I1335=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000712650"	"0"	"50"	"4"	"15538626"	"15538626"	"subst"	"0.000113923"	"03980"	"CC2D2A_000186"	"g.15538626C>T"	""	"Doucette 2021, Submitted"	""	""	""	"Germline"	"no"	"rs201954181"	""	""	""	""	"{CV:291191}"	"VUS"	""
"0000719783"	"0"	"30"	"4"	"15482903"	"15482903"	"subst"	"0.00202007"	"02326"	"CC2D2A_000039"	"g.15482903C>T"	""	""	""	"CC2D2A(NM_001164720.1):c.330C>T (p.G110=), CC2D2A(NM_001164720.2):c.330C>T (p.G110=), CC2D2A(NM_001164720.3):c.330C>T (p.G110=, p.(Gly110=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719784"	"0"	"30"	"4"	"15512892"	"15512892"	"subst"	"5.79669E-5"	"01804"	"CC2D2A_000187"	"g.15512892C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.563C>T (p.(Ala188Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719785"	"0"	"30"	"4"	"15539638"	"15539638"	"subst"	"0"	"01943"	"CC2D2A_000167"	"g.15539638G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1881G>A (p.R627=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719786"	"0"	"30"	"4"	"15539735"	"15539735"	"subst"	"0.00194844"	"01804"	"CC2D2A_000188"	"g.15539735G>C"	""	""	""	"CC2D2A(NM_001080522.2):c.1978G>C (p.V660L, p.(Val660Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719787"	"0"	"30"	"4"	"15542506"	"15542506"	"subst"	"0.000394271"	"01943"	"CC2D2A_000189"	"g.15542506T>A"	""	""	""	"CC2D2A(NM_001080522.2):c.2050T>A (p.L684I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719797"	"0"	"30"	"4"	"15559114"	"15559114"	"subst"	"0.000334498"	"01943"	"CC2D2A_000076"	"g.15559114T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.2813T>C (p.M938T, p.(Met938Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719799"	"0"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"01943"	"CC2D2A_000012"	"g.15569300del"	""	""	""	"CC2D2A(NM_001080522.2):c.3289-1delG, CC2D2A(NM_001378615.1):c.3289del (p.(Val1097PhefsTer2))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000719800"	"0"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"02325"	"CC2D2A_000012"	"g.15569300del"	""	""	""	"CC2D2A(NM_001080522.2):c.3289-1delG, CC2D2A(NM_001378615.1):c.3289del (p.(Val1097PhefsTer2))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000719801"	"0"	"50"	"4"	"15581684"	"15581684"	"subst"	"4.06369E-6"	"01943"	"CC2D2A_000190"	"g.15581684A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.3865A>G (p.T1289A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719802"	"0"	"50"	"4"	"15601232"	"15601232"	"subst"	"0"	"01943"	"CC2D2A_000027"	"g.15601232C>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4577C>A (p.T1526N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719803"	"0"	"50"	"4"	"15601232"	"15601232"	"subst"	"0"	"02325"	"CC2D2A_000027"	"g.15601232C>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4577C>A (p.T1526N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000729847"	"3"	"90"	"4"	"15565047"	"15565047"	"del"	"0"	"00000"	"CC2D2A_000010"	"g.15565047del"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_001080522.2:c.3084delG:p.(Lys1029Argfs*3)"	""	"Germline"	""	""	"0"	""	""	"g.15563424del"	""	"pathogenic (recessive)"	""
"0000729848"	"3"	"90"	"4"	"15569375"	"15569375"	"subst"	"4.30296E-6"	"00000"	"CC2D2A_000105"	"g.15569375C>T"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_001080522.2:c.3364C>T:p.(Pro1122Ser)"	""	"Germline"	""	""	"0"	""	""	"g.15567752C>T"	""	"pathogenic (recessive)"	""
"0000729849"	"3"	"90"	"4"	"15569375"	"15569375"	"subst"	"4.30296E-6"	"00000"	"CC2D2A_000105"	"g.15569375C>T"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_001080522.2:c.3364C>T:p.(Pro1122Ser)"	""	"Germline"	""	""	"0"	""	""	"g.15567752C>T"	""	"pathogenic (recessive)"	""
"0000736822"	"0"	"50"	"4"	"15513014"	"15513016"	"del"	"0"	"00000"	"CC2D2A_000002"	"g.15513014_15513016del"	"21/486 individuals"	"{PMID:Sergouniotis 2016:27628848}"	""	""	"no genotypes reported"	"Germline"	""	"rs386833764"	"0"	""	""	"g.15511391_15511393del"	""	"VUS"	""
"0000765488"	"1"	"50"	"4"	"15504136"	"15504136"	"subst"	"0.000199084"	"00000"	"CC2D2A_000191"	"g.15504136C>T"	"3/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	""	"Germline"	""	"rs137878385"	"0"	""	""	"g.15502513C>T"	""	"VUS"	""
"0000765495"	"0"	"50"	"4"	"15504136"	"15504136"	"subst"	"0.000199084"	"00000"	"CC2D2A_000191"	"g.15504136C>T"	"2/624 control chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	""	"Germline"	""	"rs137878385"	"0"	""	""	"g.15502513C>T"	""	"VUS"	""
"0000765503"	"2"	"70"	"4"	"15569059"	"15569059"	"subst"	"1.62986E-5"	"00000"	"CC2D2A_000193"	"g.15569059C>T"	"1/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	"not in 624 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15567436C>T"	""	"likely pathogenic"	""
"0000765680"	"21"	"90"	"4"	"15569387"	"15569387"	"subst"	"0"	"00000"	"CC2D2A_000194"	"g.15569387G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567764G>A"	""	"pathogenic (recessive)"	""
"0000765681"	"1"	"90"	"4"	"15569387"	"15569387"	"subst"	"0"	"00000"	"CC2D2A_000194"	"g.15569387G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567764G>A"	""	"pathogenic (recessive)"	""
"0000765682"	"1"	"90"	"4"	"15569387"	"15569387"	"subst"	"0"	"00000"	"CC2D2A_000194"	"g.15569387G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567764G>A"	""	"pathogenic (recessive)"	""
"0000765683"	"21"	"90"	"4"	"15569387"	"15569387"	"subst"	"0"	"00000"	"CC2D2A_000194"	"g.15569387G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567764G>A"	""	"pathogenic (recessive)"	""
"0000765684"	"11"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs201502401"	"0"	""	""	"g.15599699A>T"	""	"pathogenic (recessive)"	""
"0000765685"	"11"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs201502401"	"0"	""	""	"g.15599699A>T"	""	"pathogenic (recessive)"	""
"0000765686"	"21"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs201502401"	"0"	""	""	"g.15599699A>T"	""	"pathogenic (recessive)"	""
"0000765687"	"11"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs201502401"	"0"	""	""	"g.15599699A>T"	""	"pathogenic (recessive)"	""
"0000765688"	"11"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs201502401"	"0"	""	""	"g.15599699A>T"	""	"pathogenic (recessive)"	""
"0000765689"	"11"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs201502401"	"0"	""	""	"g.15599699A>T"	""	"pathogenic (recessive)"	""
"0000765690"	"21"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs201502401"	"0"	""	""	"g.15599699A>T"	""	"pathogenic (recessive)"	""
"0000765721"	"11"	"90"	"4"	"15602887"	"15602887"	"subst"	"0"	"00000"	"CC2D2A_000197"	"g.15602887T>C"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15601264T>C"	""	"pathogenic (recessive)"	""
"0000765722"	"2"	"90"	"4"	"15601214"	"15601214"	"subst"	"4.084E-6"	"00000"	"CC2D2A_000196"	"g.15601214A>G"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15599591A>G"	""	"pathogenic (recessive)"	""
"0000765723"	"2"	"90"	"4"	"15601214"	"15601214"	"subst"	"4.084E-6"	"00000"	"CC2D2A_000196"	"g.15601214A>G"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15599591A>G"	""	"pathogenic (recessive)"	""
"0000765724"	"11"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs201502401"	"0"	""	""	"g.15599699A>T"	""	"pathogenic (recessive)"	""
"0000765725"	"21"	"90"	"4"	"15572069"	"15572069"	"subst"	"2.90384E-5"	"00000"	"CC2D2A_000022"	"g.15572069T>C"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs386833755"	"0"	""	""	"g.15570446T>C"	""	"pathogenic (recessive)"	""
"0000765726"	"21"	"90"	"4"	"15569387"	"15569387"	"subst"	"0"	"00000"	"CC2D2A_000194"	"g.15569387G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567764G>A"	""	"pathogenic (recessive)"	""
"0000765727"	"11"	"90"	"4"	"15569387"	"15569387"	"subst"	"0"	"00000"	"CC2D2A_000194"	"g.15569387G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567764G>A"	""	"pathogenic (recessive)"	""
"0000765728"	"21"	"90"	"4"	"15569387"	"15569387"	"subst"	"0"	"00000"	"CC2D2A_000194"	"g.15569387G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567764G>A"	""	"pathogenic (recessive)"	""
"0000765729"	"21"	"90"	"4"	"15569387"	"15569387"	"subst"	"0"	"00000"	"CC2D2A_000194"	"g.15569387G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567764G>A"	""	"pathogenic (recessive)"	""
"0000765730"	"21"	"90"	"4"	"15570967"	"15570969"	"del"	"0"	"00000"	"CC2D2A_000195"	"g.15570967_15570969del"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15569344_15569346del"	""	"pathogenic (recessive)"	""
"0000765731"	"11"	"90"	"4"	"15542638"	"15542638"	"subst"	"0"	"00000"	"CC2D2A_000192"	"g.15542638G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15541015G>A"	""	"pathogenic (recessive)"	""
"0000783393"	"3"	"90"	"4"	"15569375"	"15569375"	"subst"	"4.30296E-6"	"00000"	"CC2D2A_000105"	"g.15569375C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3364C>T"	""	"Germline"	""	""	"0"	""	""	"g.15567752C>T"	""	"pathogenic"	""
"0000783394"	"3"	"90"	"4"	"15560806"	"15560806"	"subst"	"0"	"00000"	"CC2D2A_000077"	"g.15560806C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.2848C>T"	""	"Germline"	""	""	"0"	""	""	"g.15559183C>T"	""	"pathogenic"	""
"0000783395"	"1"	"90"	"4"	"15591277"	"15591277"	"subst"	"0"	"00000"	"CC2D2A_000216"	"g.15591277T>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4289T>C"	""	"Germline"	""	""	"0"	""	""	"g.15589654T>C"	""	"pathogenic"	""
"0000783396"	"1"	"90"	"4"	"15591277"	"15591277"	"subst"	"0"	"00000"	"CC2D2A_000216"	"g.15591277T>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4289T>C"	""	"Germline"	""	""	"0"	""	""	"g.15589654T>C"	""	"pathogenic"	""
"0000783397"	"1"	"90"	"4"	"15569105"	"15569105"	"subst"	"0"	"00000"	"CC2D2A_000103"	"g.15569105G>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3288G>C"	""	"Germline"	""	""	"0"	""	""	"g.15567482G>C"	""	"pathogenic"	""
"0000783398"	"3"	"90"	"4"	"15569375"	"15569375"	"subst"	"4.30296E-6"	"00000"	"CC2D2A_000105"	"g.15569375C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3364C>T"	""	"Germline"	""	""	"0"	""	""	"g.15567752C>T"	""	"pathogenic"	""
"0000783399"	"1"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00000"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3289delG"	""	"Germline"	""	""	"0"	""	""	"g.15567677del"	""	"pathogenic"	""
"0000783400"	"3"	"90"	"4"	"15601237"	"15601237"	"subst"	"8.14001E-6"	"00000"	"CC2D2A_000182"	"g.15601237C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4582C>T"	""	"Germline"	""	""	"0"	""	""	"g.15599614C>T"	""	"pathogenic"	""
"0000783401"	"3"	"90"	"4"	"15601237"	"15601237"	"subst"	"8.14001E-6"	"00000"	"CC2D2A_000182"	"g.15601237C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4582C>T"	""	"Germline"	""	""	"0"	""	""	"g.15599614C>T"	""	"pathogenic"	""
"0000783402"	"1"	"90"	"4"	"15581711"	"15581712"	"del"	"0"	"00000"	"CC2D2A_000213"	"g.15581711_15581712del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3891_3892delTG"	""	"Germline"	""	""	"0"	""	""	"g.15580088_15580089del"	""	"pathogenic"	""
"0000783403"	"1"	"90"	"4"	"15581669"	"15581669"	"subst"	"8.12803E-6"	"00000"	"CC2D2A_000212"	"g.15581669C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3850C>T"	""	"Germline"	""	""	"0"	""	""	"g.15580046C>T"	""	"pathogenic"	""
"0000783404"	"1"	"90"	"4"	"15570969"	"15570969"	"subst"	"0"	"00000"	"CC2D2A_000208"	"g.15570969T>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3452T>C"	""	"Germline"	""	""	"0"	""	""	"g.15569346T>C"	""	"pathogenic"	""
"0000783405"	"1"	"90"	"4"	"15570969"	"15570969"	"subst"	"0"	"00000"	"CC2D2A_000208"	"g.15570969T>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3452T>C"	""	"Germline"	""	""	"0"	""	""	"g.15569346T>C"	""	"pathogenic"	""
"0000783406"	"1"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00000"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3289delG"	""	"Germline"	""	""	"0"	""	""	"g.15567677del"	""	"pathogenic"	""
"0000783407"	"1"	"90"	"4"	"15589553"	"15589553"	"del"	"0"	"00000"	"CC2D2A_000020"	"g.15589553del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4179+1delG"	""	"Germline"	""	""	"0"	""	""	"g.15587930del"	""	"pathogenic"	""
"0000783408"	"1"	"90"	"4"	"15575922"	"15575925"	"dup"	"0"	"00000"	"CC2D2A_000147"	"g.15575922_15575925dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3743_3746dupTGGT"	""	"Germline"	""	""	"0"	""	""	"g.15574299_15574302dup"	""	"pathogenic"	""
"0000783409"	"1"	"90"	"4"	"15575922"	"15575925"	"dup"	"0"	"00000"	"CC2D2A_000147"	"g.15575922_15575925dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3743_3746dupTGGT"	""	"Germline"	""	""	"0"	""	""	"g.15574299_15574302dup"	""	"pathogenic"	""
"0000783410"	"1"	"90"	"4"	"15581590"	"15581590"	"subst"	"0"	"00000"	"CC2D2A_000211"	"g.15581590G>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3772-1G>T"	""	"Germline"	""	""	"0"	""	""	"g.15579967G>T"	""	"pathogenic"	""
"0000783411"	"1"	"90"	"4"	"15565097"	"15565097"	"subst"	"0"	"00000"	"CC2D2A_000206"	"g.15565097T>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3134T>C"	""	"Germline"	""	""	"0"	""	""	"g.15563474T>C"	""	"pathogenic"	""
"0000783412"	"1"	"90"	"4"	"15565018"	"15565018"	"subst"	"0.000107222"	"00000"	"CC2D2A_000205"	"g.15565018C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3055C>T"	""	"Germline"	""	""	"0"	""	""	"g.15563395C>T"	""	"pathogenic"	""
"0000783413"	"1"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00000"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3289delG"	""	"Germline"	""	""	"0"	""	""	"g.15567677del"	""	"pathogenic"	""
"0000783414"	"1"	"90"	"4"	"15602926"	"15602926"	"subst"	"0"	"00000"	"CC2D2A_000219"	"g.15602926A>G"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4741A>G"	""	"Germline"	""	""	"0"	""	""	"g.15601303A>G"	""	"pathogenic"	""
"0000783415"	"3"	"90"	"4"	"15562230"	"15562230"	"subst"	"1.44186E-5"	"00000"	"CC2D2A_000204"	"g.15562230A>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.2999A>T"	""	"Germline"	""	""	"0"	""	""	"g.15560607A>T"	""	"pathogenic"	""
"0000783416"	"3"	"90"	"4"	"15562230"	"15562230"	"subst"	"1.44186E-5"	"00000"	"CC2D2A_000204"	"g.15562230A>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.2999A>T"	""	"Germline"	""	""	"0"	""	""	"g.15560607A>T"	""	"pathogenic"	""
"0000783417"	"3"	"90"	"4"	"15569375"	"15569375"	"subst"	"4.30296E-6"	"00000"	"CC2D2A_000105"	"g.15569375C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3364C>T"	""	"Germline"	""	""	"0"	""	""	"g.15567752C>T"	""	"pathogenic"	""
"0000783418"	"3"	"90"	"4"	"15569375"	"15569375"	"subst"	"4.30296E-6"	"00000"	"CC2D2A_000105"	"g.15569375C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3364C>T"	""	"Germline"	""	""	"0"	""	""	"g.15567752C>T"	""	"pathogenic"	""
"0000783419"	"1"	"90"	"4"	"15556832"	"15556832"	"subst"	"0"	"00000"	"CC2D2A_000202"	"g.15556832C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.2624C>A"	""	"Germline"	""	""	"0"	""	""	"g.15555209C>A"	""	"pathogenic"	""
"0000783420"	"1"	"90"	"4"	"15589553"	"15589553"	"del"	"0"	"00000"	"CC2D2A_000020"	"g.15589553del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4179+1delG"	""	"Germline"	""	""	"0"	""	""	"g.15587930del"	""	"pathogenic"	""
"0000783421"	"1"	"90"	"4"	"15517628"	"15517628"	"subst"	"5.21549E-5"	"00000"	"CC2D2A_000165"	"g.15517628G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.1017+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.15516005G>A"	""	"pathogenic"	""
"0000783422"	"1"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00000"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3289delG"	""	"Germline"	""	""	"0"	""	""	"g.15567677del"	""	"pathogenic"	""
"0000783423"	"3"	"90"	"4"	"15569358"	"15569358"	"subst"	"3.8155E-5"	"00000"	"CC2D2A_000207"	"g.15569358C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3347C>T"	""	"Germline"	""	""	"0"	""	""	"g.15567735C>T"	""	"pathogenic"	""
"0000783424"	"3"	"90"	"4"	"15569358"	"15569358"	"subst"	"3.8155E-5"	"00000"	"CC2D2A_000207"	"g.15569358C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3347C>T"	""	"Germline"	""	""	"0"	""	""	"g.15567735C>T"	""	"pathogenic"	""
"0000783425"	"1"	"90"	"4"	"15603029"	"15603032"	"del"	"0"	"00000"	"CC2D2A_000220"	"g.15603029_15603032del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4843_4846delTCTC"	""	"Germline"	""	""	"0"	""	""	"g.15601406_15601409del"	""	"pathogenic"	""
"0000783426"	"1"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4667A>T"	""	"Germline"	""	""	"0"	""	""	"g.15599699A>T"	""	"pathogenic"	""
"0000783427"	"1"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4667A>T"	""	"Germline"	""	""	"0"	""	""	"g.15599699A>T"	""	"pathogenic"	""
"0000783428"	"1"	"90"	"4"	"15575774"	"15575774"	"subst"	"4.98512E-5"	"00000"	"CC2D2A_000210"	"g.15575774T>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3596T>C"	""	"Germline"	""	""	"0"	""	""	"g.15574151T>C"	""	"pathogenic"	""
"0000783429"	"3"	"90"	"4"	"15591214"	"15591214"	"subst"	"0"	"00000"	"CC2D2A_000215"	"g.15591214T>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4226T>C"	""	"Germline"	""	""	"0"	""	""	"g.15589591T>C"	""	"pathogenic"	""
"0000783430"	"1"	"90"	"4"	"15581593"	"15581593"	"dup"	"0"	"00000"	"CC2D2A_000023"	"g.15581593dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3774dupT"	""	"Germline"	""	""	"0"	""	""	"g.15579970dup"	""	"pathogenic"	""
"0000783431"	"1"	"90"	"4"	"15581593"	"15581593"	"dup"	"0"	"00000"	"CC2D2A_000023"	"g.15581593dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3774dupT"	""	"Germline"	""	""	"0"	""	""	"g.15579970dup"	""	"pathogenic"	""
"0000783582"	"1"	"70"	"4"	"15603029"	"15603032"	"del"	"0"	"00000"	"CC2D2A_000220"	"g.15603029_15603032del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4843_4846delTCTC"	""	"Germline"	""	""	"0"	""	""	"g.15601406_15601409del"	""	"likely pathogenic"	""
"0000783583"	"1"	"70"	"4"	"15581798"	"15581801"	"del"	"0"	"00000"	"CC2D2A_000018"	"g.15581798_15581801del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3975+4_3975+7delAGTA"	""	"Germline"	""	""	"0"	""	""	"g.15580175_15580178del"	""	"likely pathogenic"	""
"0000783584"	"1"	"70"	"4"	"15534907"	"15534907"	"subst"	"1.80365E-5"	"00000"	"CC2D2A_000200"	"g.15534907C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.1558C>T"	""	"Germline"	""	""	"0"	""	""	"g.15533284C>T"	""	"likely pathogenic"	""
"0000783645"	"2"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00000"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3289delG"	""	"Germline"	""	""	"0"	""	""	"g.15567677del"	""	"pathogenic"	""
"0000783646"	"2"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00000"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3289delG"	""	"Germline"	""	""	"0"	""	""	"g.15567677del"	""	"pathogenic"	""
"0000783647"	"2"	"90"	"4"	"15565018"	"15565018"	"subst"	"0.000107222"	"00000"	"CC2D2A_000205"	"g.15565018C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3055C>T"	""	"Germline"	""	""	"0"	""	""	"g.15563395C>T"	""	"pathogenic"	""
"0000783648"	"2"	"90"	"4"	"15601237"	"15601237"	"subst"	"8.14001E-6"	"00000"	"CC2D2A_000182"	"g.15601237C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4582C>T"	""	"Germline"	""	""	"0"	""	""	"g.15599614C>T"	""	"pathogenic"	""
"0000783649"	"2"	"90"	"4"	"15538611"	"15538611"	"subst"	"4.06484E-6"	"00000"	"CC2D2A_000201"	"g.15538611T>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.1676T>C"	""	"Germline"	""	""	"0"	""	""	"g.15536988T>C"	""	"pathogenic"	""
"0000783650"	"2"	"90"	"4"	"15565097"	"15565097"	"subst"	"0"	"00000"	"CC2D2A_000206"	"g.15565097T>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3134T>C"	""	"Germline"	""	""	"0"	""	""	"g.15563474T>C"	""	"pathogenic"	""
"0000783651"	"2"	"90"	"4"	"15529183"	"15529184"	"ins"	"0"	"00000"	"CC2D2A_000198"	"g.15529183_15529184insGGCATGTTTTGGCAGCGA"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.1263_1264insGGCATGTTTTGGCAGCGA"	""	"Germline"	""	""	"0"	""	""	"g.15527560_15527561insGGCATGTTTTGGCAGCGA"	""	"pathogenic"	""
"0000783652"	"2"	"90"	"4"	"15529183"	"15529184"	"ins"	"0"	"00000"	"CC2D2A_000198"	"g.15529183_15529184insGGCATGTTTTGGCAGCGA"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.1263_1264insGGCATGTTTTGGCAGCGA"	""	"Germline"	""	""	"0"	""	""	"g.15527560_15527561insGGCATGTTTTGGCAGCGA"	""	"pathogenic"	""
"0000783653"	"2"	"90"	"4"	"15569358"	"15569358"	"subst"	"3.8155E-5"	"00000"	"CC2D2A_000207"	"g.15569358C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3347C>T"	""	"Germline"	""	""	"0"	""	""	"g.15567735C>T"	""	"pathogenic"	""
"0000783654"	"2"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4667A>T"	""	"Germline"	""	""	"0"	""	""	"g.15599699A>T"	""	"pathogenic"	""
"0000783655"	"2"	"90"	"4"	"15587793"	"15587793"	"subst"	"2.04127E-5"	"00000"	"CC2D2A_000214"	"g.15587793G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3989G>A"	""	"Germline"	""	""	"0"	""	""	"g.15586170G>A"	""	"pathogenic"	""
"0000783656"	"2"	"90"	"4"	"15587793"	"15587793"	"subst"	"2.04127E-5"	"00000"	"CC2D2A_000214"	"g.15587793G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3989G>A"	""	"Germline"	""	""	"0"	""	""	"g.15586170G>A"	""	"pathogenic"	""
"0000783657"	"2"	"90"	"4"	"15601237"	"15601237"	"subst"	"8.14001E-6"	"00000"	"CC2D2A_000182"	"g.15601237C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4582C>T"	""	"Germline"	""	""	"0"	""	""	"g.15599614C>T"	""	"pathogenic"	""
"0000783658"	"2"	"90"	"4"	"15517628"	"15517628"	"subst"	"5.21549E-5"	"00000"	"CC2D2A_000165"	"g.15517628G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.1017+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.15516005G>A"	""	"pathogenic"	""
"0000783659"	"2"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4667A>T"	""	"Germline"	""	""	"0"	""	""	"g.15599699A>T"	""	"pathogenic"	""
"0000783660"	"2"	"90"	"4"	"15587793"	"15587793"	"subst"	"2.04127E-5"	"00000"	"CC2D2A_000214"	"g.15587793G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3989G>A"	""	"Germline"	""	""	"0"	""	""	"g.15586170G>A"	""	"pathogenic"	""
"0000783661"	"2"	"90"	"4"	"15569358"	"15569358"	"subst"	"3.8155E-5"	"00000"	"CC2D2A_000207"	"g.15569358C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3347C>T"	""	"Germline"	""	""	"0"	""	""	"g.15567735C>T"	""	"pathogenic"	""
"0000783662"	"2"	"90"	"4"	"15534852"	"15534854"	"del"	"0"	"00000"	"CC2D2A_000199"	"g.15534852_15534854del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.1503_1505delAGA"	""	"Germline"	""	""	"0"	""	""	"g.15533229_15533231del"	""	"pathogenic"	""
"0000783663"	"2"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4667A>T"	""	"Germline"	""	""	"0"	""	""	"g.15599699A>T"	""	"pathogenic"	""
"0000783664"	"2"	"90"	"4"	"15601255"	"15601255"	"subst"	"8.1316E-6"	"00000"	"CC2D2A_000218"	"g.15601255T>G"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4600T>G"	""	"Germline"	""	""	"0"	""	""	"g.15599632T>G"	""	"pathogenic"	""
"0000783665"	"2"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4667A>T"	""	"Germline"	""	""	"0"	""	""	"g.15599699A>T"	""	"pathogenic"	""
"0000783666"	"2"	"90"	"4"	"15558972"	"15558972"	"subst"	"8.13756E-6"	"00000"	"CC2D2A_000203"	"g.15558972G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.2671G>A"	""	"Germline"	""	""	"0"	""	""	"g.15557349G>A"	""	"pathogenic"	""
"0000783667"	"2"	"90"	"4"	"15569352"	"15569352"	"subst"	"3.38304E-5"	"00000"	"CC2D2A_000013"	"g.15569352C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3341C>T"	""	"Germline"	""	""	"0"	""	""	"g.15567729C>T"	""	"pathogenic"	""
"0000783668"	"2"	"90"	"4"	"15569352"	"15569352"	"subst"	"3.38304E-5"	"00000"	"CC2D2A_000013"	"g.15569352C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3341C>T"	""	"Germline"	""	""	"0"	""	""	"g.15567729C>T"	""	"pathogenic"	""
"0000783669"	"2"	"90"	"4"	"15599083"	"15599083"	"subst"	"0"	"00000"	"CC2D2A_000217"	"g.15599083A>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4491A>C"	""	"Germline"	""	""	"0"	""	""	"g.15597460A>C"	""	"pathogenic"	""
"0000783670"	"2"	"90"	"4"	"15601237"	"15601237"	"subst"	"8.14001E-6"	"00000"	"CC2D2A_000182"	"g.15601237C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4582C>T"	""	"Germline"	""	""	"0"	""	""	"g.15599614C>T"	""	"pathogenic"	""
"0000783671"	"2"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4667A>T"	""	"Germline"	""	""	"0"	""	""	"g.15599699A>T"	""	"pathogenic"	""
"0000783754"	"2"	"70"	"4"	"15587777"	"15587777"	"subst"	"8.1626E-6"	"00000"	"CC2D2A_000181"	"g.15587777C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3976-3C>A"	""	"Germline"	""	""	"0"	""	""	"g.15586154C>A"	""	"likely pathogenic"	""
"0000783755"	"2"	"70"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.4667A>T"	""	"Germline"	""	""	"0"	""	""	"g.15599699A>T"	""	"likely pathogenic"	""
"0000783756"	"2"	"70"	"4"	"15572124"	"15572124"	"subst"	"0"	"00000"	"CC2D2A_000209"	"g.15572124G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_001080522.2:c.3594+5G>A"	""	"Germline"	""	""	"0"	""	""	"g.15570501G>A"	""	"likely pathogenic"	""
"0000785419"	"0"	"50"	"4"	"15569300"	"15569300"	"del"	"0"	"00000"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567677del"	""	"VUS"	""
"0000785428"	"0"	"50"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15599699A>T"	""	"VUS"	""
"0000785436"	"0"	"50"	"4"	"15517559"	"15517559"	"subst"	"6.69508E-5"	"00000"	"CC2D2A_000221"	"g.15517559G>A"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15515936G>A"	""	"VUS"	""
"0000787224"	"1"	"50"	"4"	"15534833"	"15534833"	"subst"	"5.11723E-5"	"00006"	"CC2D2A_000138"	"g.15534833G>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	"rs373906628"	"0"	""	""	"g.15533210G>A"	"{CV-RCV:000478789}"	"VUS"	""
"0000787560"	"3"	"50"	"4"	"15597824"	"15597824"	"subst"	"0"	"00000"	"CC2D2A_000223"	"g.15597824T>G"	""	"0"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15596201T>G"	""	"VUS"	""
"0000787572"	"2"	"50"	"4"	"15534947"	"15534947"	"subst"	"9.3265E-5"	"00000"	"CC2D2A_000222"	"g.15534947T>C"	""	"0"	""	""	""	"Germline"	""	"rs777351655"	"0"	""	""	"g.15533324T>C"	"{CV-RCV:000299384}"	"VUS"	""
"0000788364"	"0"	"50"	"4"	"15559009"	"15559009"	"subst"	"1.62849E-5"	"00000"	"CC2D2A_000224"	"g.15559009A>G"	""	"{PMID:Katagiri 2014:25268133}"	""	"A2708G"	""	"Germline"	""	""	"0"	""	""	"g.15557386A>G"	""	"VUS"	""
"0000791747"	"0"	"70"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.4667A>T; p.D1556V"	""	"Germline"	"?"	""	"0"	""	""	"g.15599699A>T"	""	"likely pathogenic"	""
"0000791748"	"0"	"70"	"4"	"15570969"	"15570969"	"subst"	"0"	"00000"	"CC2D2A_000208"	"g.15570969T>C"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3452T>C; p.V1151A"	""	"Germline"	"?"	""	"0"	""	""	"g.15569346T>C"	""	"likely pathogenic"	""
"0000791749"	"0"	"70"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.4667A>T; p.D1556V"	""	"Germline"	"?"	""	"0"	""	""	"g.15599699A>T"	""	"likely pathogenic"	""
"0000791750"	"0"	"70"	"4"	"15565108"	"15565108"	"subst"	"2.06209E-5"	"00000"	"CC2D2A_000011"	"g.15565108C>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3145C>T; p.R1049*"	""	"Germline"	"?"	""	"0"	""	""	"g.15563485C>T"	""	"likely pathogenic"	""
"0000791751"	"0"	"70"	"4"	"15569300"	"15569300"	"del"	"0"	"00000"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3289-1del"	""	"Germline"	"?"	""	"0"	""	""	"g.15567677del"	""	"likely pathogenic"	""
"0000791752"	"0"	"70"	"4"	"15569358"	"15569358"	"subst"	"3.8155E-5"	"00000"	"CC2D2A_000207"	"g.15569358C>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3347C>T; p.T1116M"	""	"Germline"	"?"	""	"0"	""	""	"g.15567735C>T"	""	"likely pathogenic"	""
"0000791753"	"0"	"70"	"4"	"15575922"	"15575925"	"dup"	"0"	"00000"	"CC2D2A_000147"	"g.15575922_15575925dup"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3743_3746dup; p.P1250Gfs*11"	""	"Germline"	"?"	""	"0"	""	""	"g.15574299_15574302dup"	"RCV001207358.2"	"likely pathogenic"	""
"0000791754"	"0"	"70"	"4"	"15601255"	"15601255"	"subst"	"8.1316E-6"	"00000"	"CC2D2A_000218"	"g.15601255T>G"	""	"{PMID:Brooks 2018:30055837}"	""	"c.4600T>G; p.L1534V"	""	"Germline"	"?"	""	"0"	""	""	"g.15599632T>G"	""	"likely pathogenic"	""
"0000791755"	"0"	"70"	"4"	"15575922"	"15575925"	"dup"	"0"	"00000"	"CC2D2A_000147"	"g.15575922_15575925dup"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3743_3746dup; p.P1250Gfs*11"	""	"Germline"	"?"	""	"0"	""	""	"g.15574299_15574302dup"	"RCV001207358.2"	"likely pathogenic"	""
"0000791756"	"0"	"70"	"4"	"15569105"	"15569105"	"subst"	"0"	"00000"	"CC2D2A_000103"	"g.15569105G>C"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3288G>C; p.Q1096H"	""	"Germline"	"?"	""	"0"	""	""	"g.15567482G>C"	""	"likely pathogenic"	""
"0000791835"	"0"	"70"	"4"	"15581798"	"15581801"	"del"	"0"	"00000"	"CC2D2A_000018"	"g.15581798_15581801del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3975+4_3975+7del"	""	"Germline"	"?"	""	"0"	""	""	"g.15580175_15580178del"	""	"likely pathogenic"	""
"0000791836"	"0"	"70"	"4"	"15504048"	"15504049"	"ins"	"0"	"00000"	"CC2D2A_000225"	"g.15504048_15504049insAAGTTTT"	""	"{PMID:Brooks 2018:30055837}"	""	"c.248-4_248-3insAAGTTTT"	""	"Germline"	"?"	""	"0"	""	""	"g.15502425_15502426insAAGTTTT"	""	"likely pathogenic"	""
"0000791837"	"0"	"70"	"4"	"15569300"	"15569300"	"del"	"0"	"00000"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3289-1del"	""	"Germline"	"?"	""	"0"	""	""	"g.15567677del"	""	"likely pathogenic"	""
"0000791838"	"0"	"70"	"4"	"15569358"	"15569358"	"subst"	"3.8155E-5"	"00000"	"CC2D2A_000207"	"g.15569358C>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3347C>T; p.T1116M"	""	"Germline"	"?"	""	"0"	""	""	"g.15567735C>T"	""	"likely pathogenic"	""
"0000791839"	"0"	"70"	"4"	"15581670"	"15581670"	"subst"	"1.21921E-5"	"00000"	"CC2D2A_000229"	"g.15581670G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3851G>A"	"predicted protein change not mentioned in publication"	"Germline"	"?"	""	"0"	""	""	"g.15580047G>A"	""	"likely pathogenic"	""
"0000791840"	"0"	"70"	"4"	"15602926"	"15602926"	"subst"	"0"	"00000"	"CC2D2A_000219"	"g.15602926A>G"	""	"{PMID:Brooks 2018:30055837}"	""	"c.4741A>G; p.T1581A"	""	"Germline"	"?"	""	"0"	""	""	"g.15601303A>G"	""	"likely pathogenic"	""
"0000791841"	"0"	"70"	"4"	"15587793"	"15587793"	"subst"	"2.04127E-5"	"00000"	"CC2D2A_000214"	"g.15587793G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3989G>A; p.R1330Q"	""	"Germline"	"?"	""	"0"	""	""	"g.15586170G>A"	""	"likely pathogenic"	""
"0000791842"	"0"	"70"	"4"	"15517628"	"15517628"	"subst"	"5.21549E-5"	"00000"	"CC2D2A_000165"	"g.15517628G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1017+1G>A"	""	"Germline"	"?"	""	"0"	""	""	"g.15516005G>A"	""	"likely pathogenic"	""
"0000791843"	"0"	"70"	"4"	"15587793"	"15587793"	"subst"	"2.04127E-5"	"00000"	"CC2D2A_000214"	"g.15587793G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3989G>A; p.R1330Q"	""	"Germline"	"?"	""	"0"	""	""	"g.15586170G>A"	""	"likely pathogenic"	""
"0000791844"	"0"	"70"	"4"	"15565018"	"15565018"	"subst"	"0.000107222"	"00000"	"CC2D2A_000205"	"g.15565018C>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3055C>T; p.R1019*"	""	"Germline"	"?"	""	"0"	""	""	"g.15563395C>T"	""	"likely pathogenic"	""
"0000791975"	"0"	"90"	"4"	"15534868"	"15534868"	"subst"	"0.00648421"	"00000"	"CC2D2A_000063"	"g.15534868A>G"	""	"{PMID:Otto 2011:21068128}"	""	"c.1519A/G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791985"	"0"	"90"	"4"	"15534868"	"15534868"	"subst"	"0.00648421"	"00000"	"CC2D2A_000063"	"g.15534868A>G"	""	"{PMID:Otto 2011:21068128}"	""	"c.1519A/G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791987"	"0"	"90"	"4"	"15511840"	"15511840"	"subst"	"8.26194E-6"	"00000"	"CC2D2A_000003"	"g.15511840C>T"	""	"{PMID:Otto 2011:21068128}"	""	"c.517C/T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791988"	"0"	"90"	"4"	"15538611"	"15538611"	"subst"	"4.06484E-6"	"00000"	"CC2D2A_000201"	"g.15538611T>C"	""	"{PMID:Otto 2011:21068128}"	""	"c.1676T/C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791989"	"0"	"90"	"4"	"15572069"	"15572069"	"subst"	"2.90384E-5"	"00000"	"CC2D2A_000022"	"g.15572069T>C"	""	"{PMID:Otto 2011:21068128}"	""	"c.3544T/C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791990"	"0"	"90"	"4"	"15581593"	"15581594"	"ins"	"0"	"00000"	"CC2D2A_000228"	"g.15581593_15581594insT"	""	"{PMID:Otto 2011:21068128}"	""	"c.3774_5insT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791991"	"0"	"90"	"4"	"15513014"	"15513016"	"del"	"0"	"00000"	"CC2D2A_000226"	"g.15513014_15513016delGAA"	""	"{PMID:Otto 2011:21068128}"	""	"c.685_7delGAA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000791992"	"0"	"90"	"4"	"15581712"	"15581712"	"subst"	"0"	"00000"	"CC2D2A_000025"	"g.15581712T>A"	""	"{PMID:Otto 2011:21068128}"	""	"c.3893T/A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792012"	"0"	"90"	"4"	"15534868"	"15534868"	"subst"	"0.00648421"	"00000"	"CC2D2A_000063"	"g.15534868A>G"	""	"{PMID:Otto 2011:21068128}"	""	"c.1519A/G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792013"	"0"	"90"	"4"	"15542617"	"15542617"	"subst"	"0.00241797"	"00000"	"CC2D2A_000126"	"g.15542617C>T"	""	"{PMID:Otto 2011:21068128}"	""	"c.2161C/T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792014"	"0"	"90"	"4"	"15542617"	"15542617"	"subst"	"0.00241797"	"00000"	"CC2D2A_000126"	"g.15542617C>T"	""	"{PMID:Otto 2011:21068128}"	""	"c.2161C/T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792015"	"0"	"90"	"4"	"15542617"	"15542617"	"subst"	"0.00241797"	"00000"	"CC2D2A_000126"	"g.15542617C>T"	""	"{PMID:Otto 2011:21068128}"	""	"c.2161C/T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792016"	"0"	"90"	"4"	"15565019"	"15565019"	"subst"	"0"	"00000"	"CC2D2A_000227"	"g.15565019G>A"	""	"{PMID:Otto 2011:21068128}"	""	"c.3056G/A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000794022"	"0"	"90"	"4"	"15517628"	"15517628"	"subst"	"5.21549E-5"	"00000"	"CC2D2A_000165"	"g.15517628G>A"	""	"{PMID:Nishiguchi-2012:22848652}"	""	"c.1017+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000794074"	"0"	"70"	"4"	"15517544"	"15517544"	"subst"	"0"	"03508"	"CC2D2A_000162"	"g.15517544G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794075"	"0"	"70"	"4"	"15559104"	"15559104"	"subst"	"0"	"03508"	"CC2D2A_000030"	"g.15559104C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000801537"	"0"	"30"	"4"	"15482846"	"15482846"	"subst"	"0"	"01943"	"CC2D2A_000230"	"g.15482846G>A"	""	""	""	"CC2D2A(NM_001164720.1):c.273G>A (p.L91=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801538"	"0"	"30"	"4"	"15504463"	"15504463"	"subst"	"0.000504833"	"02326"	"CC2D2A_000046"	"g.15504463T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.355T>C (p.L119=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801539"	"0"	"90"	"4"	"15513041"	"15513041"	"subst"	"5.5043E-6"	"01943"	"CC2D2A_000096"	"g.15513041G>T"	""	""	""	"CC2D2A(NM_001080522.2):c.712G>T (p.E238*, p.(Glu238*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000801540"	"0"	"50"	"4"	"15517584"	"15517584"	"subst"	"0"	"01943"	"CC2D2A_000231"	"g.15517584C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.974C>T (p.T325I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000801542"	"0"	"90"	"4"	"15530253"	"15530253"	"subst"	"0"	"01943"	"CC2D2A_000232"	"g.15530253T>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1370T>A (p.L457*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000801543"	"0"	"30"	"4"	"15539735"	"15539735"	"subst"	"0.00194844"	"02326"	"CC2D2A_000188"	"g.15539735G>C"	""	""	""	"CC2D2A(NM_001080522.2):c.1978G>C (p.V660L, p.(Val660Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801552"	"0"	"30"	"4"	"15570997"	"15570997"	"subst"	"0.00018502"	"02326"	"CC2D2A_000175"	"g.15570997G>T"	""	""	""	"CC2D2A(NM_001080522.2):c.3480G>T (p.L1160=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801553"	"0"	"50"	"4"	"15572039"	"15572039"	"subst"	"0"	"01943"	"CC2D2A_000233"	"g.15572039A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.3514A>G (p.S1172G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000801554"	"0"	"30"	"4"	"15591284"	"15591284"	"subst"	"0.000316714"	"02330"	"CC2D2A_000151"	"g.15591284T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.4296T>C (p.C1432=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801555"	"0"	"50"	"4"	"15597733"	"15597733"	"subst"	"2.01148E-5"	"01943"	"CC2D2A_000152"	"g.15597733A>C"	""	""	""	"CC2D2A(NM_001080522.2):c.4340A>C (p.E1447A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000814344"	"21"	"90"	"4"	"15601237"	"15601238"	"del"	"0"	"00006"	"CC2D2A_000234"	"g.15601237_15601238del"	""	"{PMID:Takenouchi 2017:28374938}"	""	"4582_4583delCG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000814347"	"11"	"90"	"4"	"15504526"	"15504527"	"ins"	"0"	"00006"	"CC2D2A_000235"	"g.15504526_15504527ins[(6000_62000);GAAAGAATTGG]"	""	"{PMID:Takenouchi 2017:28374938}"	""	""	"L1 insertion 0.99 similarity to L1HS"	"Germline"	""	""	"0"	""	""	"g.15502903_15502904ins[(6000_62000);GAAAGAATTGG]"	""	"pathogenic (recessive)"	""
"0000817371"	"0"	"50"	"4"	"15599081"	"15599081"	"subst"	"0"	"00000"	"CC2D2A_000237"	"g.15599081C>A"	""	"{PMID:Devi 2020:32139166}"	""	"CC2D2A c.4489C>A, p.Q1497*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.15597458C>A"	""	"VUS"	""
"0000817525"	"3"	"70"	"4"	"15569375"	"15569375"	"subst"	"4.30296E-6"	"00000"	"CC2D2A_000105"	"g.15569375C>T"	""	"{PMID:Knopp 2015:26003401}"	""	"JBTS9:p.Pro1122Ser"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817526"	"3"	"70"	"4"	"15569375"	"15569375"	"subst"	"4.30296E-6"	"00000"	"CC2D2A_000105"	"g.15569375C>T"	""	"{PMID:Knopp 2015:26003401}"	""	"JBTS9:p.Pro1122Ser"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817558"	"3"	"50"	"4"	"0"	"0"	""	"0"	"00000"	"TRAPPC11_000000"	"g.?"	""	"{PMID:Knopp 2015:26003401}"	""	"MKS6/JBTS9:p.Arg1218*"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000817559"	"3"	"50"	"4"	"15597702"	"15597704"	"del"	"0"	"00000"	"CC2D2A_000236"	"g.15597702_15597704del"	""	"{PMID:Knopp 2015:26003401}"	""	"MKS6/JBTS9:c.4315-6_4315-4del"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000817590"	"0"	"90"	"4"	"15559104"	"15559104"	"subst"	"0"	"00000"	"CC2D2A_000030"	"g.15559104C>T"	""	"{PMID:Watson 2016:26729329}"	""	"c.2803C>T (p.Arg935*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000817591"	"0"	"90"	"4"	"15581593"	"15581593"	"dup"	"0"	"00000"	"CC2D2A_000023"	"g.15581593dup"	""	"{PMID:Watson 2016:26729329}"	""	"c.3774dup (p.Glu1259*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000817592"	"0"	"90"	"4"	"15560833"	"15560833"	"del"	"0"	"00000"	"CC2D2A_000029"	"g.15560833del"	""	"{PMID:Watson 2016:26729329}"	""	"c.2875del (p.Glu959Asnfs*3)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000817593"	"0"	"90"	"4"	"15560833"	"15560833"	"del"	"0"	"00000"	"CC2D2A_000029"	"g.15560833del"	""	"{PMID:Watson 2016:26729329}"	""	"c.2875del (p.Glu959Asnfs*3)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818269"	"0"	"90"	"4"	"15569105"	"15569105"	"subst"	"0"	"00000"	"CC2D2A_000103"	"g.15569105G>C"	""	"{PMID:Summers 2017:28497568}"	""	"c.3288G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818270"	"0"	"90"	"4"	"15565018"	"15565018"	"subst"	"0.000107222"	"00000"	"CC2D2A_000205"	"g.15565018C>T"	""	"{PMID:Summers 2017:28497568}"	""	"c.3055C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818291"	"0"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00000"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Summers 2017:28497568}"	""	"c.3289del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818292"	"0"	"90"	"4"	"15581670"	"15581670"	"subst"	"1.21921E-5"	"00000"	"CC2D2A_000229"	"g.15581670G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.3851G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818315"	"0"	"90"	"4"	"15504048"	"15504049"	"ins"	"0"	"00000"	"CC2D2A_000225"	"g.15504048_15504049insAAGTTTT"	""	"{PMID:Summers 2017:28497568}"	""	"c.248-4_248-3insAAGTTTT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818316"	"0"	"90"	"4"	"15570969"	"15570969"	"subst"	"0"	"00000"	"CC2D2A_000208"	"g.15570969T>C"	""	"{PMID:Summers 2017:28497568}"	""	"c.3452T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818321"	"0"	"90"	"4"	"15569358"	"15569358"	"subst"	"3.8155E-5"	"00000"	"CC2D2A_000207"	"g.15569358C>T"	""	"{PMID:Summers 2017:28497568}"	""	"c.3347C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818322"	"0"	"90"	"4"	"15602926"	"15602926"	"subst"	"0"	"00000"	"CC2D2A_000219"	"g.15602926A>G"	""	"{PMID:Summers 2017:28497568}"	""	"c.4741A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818374"	"0"	"90"	"4"	"15601255"	"15601255"	"subst"	"8.1316E-6"	"00000"	"CC2D2A_000218"	"g.15601255T>G"	""	"{PMID:Summers 2017:28497568}"	""	"c.4600T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818375"	"0"	"90"	"4"	"15517628"	"15517628"	"subst"	"5.21549E-5"	"00000"	"CC2D2A_000165"	"g.15517628G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.1017+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818382"	"0"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Summers 2017:28497568}"	""	"c.4667A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818383"	"0"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00000"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Summers 2017:28497568}"	""	"c.3289del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818384"	"0"	"90"	"4"	"15575921"	"15575924"	"dup"	"0"	"00000"	"CC2D2A_000238"	"g.15575921_15575924dup"	""	"{PMID:Summers 2017:28497568}"	""	"c.3743_3746dup"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818385"	"0"	"90"	"4"	"15587793"	"15587793"	"subst"	"2.04127E-5"	"00000"	"CC2D2A_000214"	"g.15587793G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.3989G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818386"	"0"	"90"	"4"	"15575921"	"15575924"	"dup"	"0"	"00000"	"CC2D2A_000238"	"g.15575921_15575924dup"	""	"{PMID:Summers 2017:28497568}"	""	"c.3743_3746dup"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818387"	"0"	"90"	"4"	"15587793"	"15587793"	"subst"	"2.04127E-5"	"00000"	"CC2D2A_000214"	"g.15587793G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.3989G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818401"	"21"	"50"	"4"	"15517544"	"15517544"	"subst"	"0"	"00000"	"CC2D2A_000162"	"g.15517544G>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.934G>A:p.(Glu312Lys)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.15515921G>A"	""	"VUS"	"ACMG"
"0000818402"	"11"	"90"	"4"	"15559104"	"15559104"	"subst"	"0"	"00000"	"CC2D2A_000030"	"g.15559104C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.2803C>T:p.(Arg935*)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.15557481C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000822185"	"0"	"50"	"4"	"15542617"	"15542617"	"subst"	"0.00241797"	"00000"	"CC2D2A_000126"	"g.15542617C>T"	""	"{PMID:Toma-2018:29987673}"	""	"c.2161C>T; p.P721S"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000828522"	"1"	"70"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00000"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Perea-Romero 2021:34448047}"	""	"CC2D2A,  c.4667A>T,  p.Asp1556Val, heterozygous | heterozygous"	""	"Germline"	"yes"	""	"0"	""	""	"g.15599699A>T"	""	"likely pathogenic"	"ACMG"
"0000832703"	"11"	"70"	"4"	"15602915"	"15602916"	"delins"	"0"	"00000"	"CC2D2A_000240"	"g.15602915_15602916delinsTGTATA"	""	"{PMID:Mejecase 2019:30267408}"	""	"[M1] CC2D2A c.4730_4731delinsTGTATA, p.(Ala1577Valfs*5)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.15601292_15601293delinsTGTATA"	""	"likely pathogenic"	""
"0000832704"	"20"	"70"	"4"	"15559075"	"15559075"	"subst"	"4.11906E-6"	"00000"	"CC2D2A_000239"	"g.15559075G>C"	""	"{PMID:Mejecase 2019:30267408}"	""	"[M2] CC2D2A c.2774G>C, p.(Arg925Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.15557452G>C"	""	"likely pathogenic"	""
"0000832708"	"11"	"70"	"4"	"15602915"	"15602916"	"delins"	"0"	"00000"	"CC2D2A_000240"	"g.15602915_15602916delinsTGTATA"	""	"{PMID:Mejecase 2019:30267408}"	""	"[M1] CC2D2A c.4730_4731delinsTGTATA, p.(Ala1577Valfs*5)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.15601292_15601293delinsTGTATA"	""	"likely pathogenic"	""
"0000832709"	"20"	"70"	"4"	"15559075"	"15559075"	"subst"	"4.11906E-6"	"00000"	"CC2D2A_000239"	"g.15559075G>C"	""	"{PMID:Mejecase 2019:30267408}"	""	"[M3] CNGA3 c.1235_1236del, p.(Glu412Valfs*6)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.15557452G>C"	""	"likely pathogenic"	""
"0000832711"	"11"	"70"	"4"	"15602915"	"15602916"	"delins"	"0"	"00000"	"CC2D2A_000240"	"g.15602915_15602916delinsTGTATA"	""	"{PMID:Mejecase 2019:30267408}"	""	"[M1] CC2D2A c.4730_4731delinsTGTATA, p.(Ala1577Valfs*5)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.15601292_15601293delinsTGTATA"	""	"likely pathogenic"	""
"0000832712"	"20"	"70"	"4"	"15559075"	"15559075"	"subst"	"4.11906E-6"	"00000"	"CC2D2A_000239"	"g.15559075G>C"	""	"{PMID:Mejecase 2019:30267408}"	""	"[M2] CC2D2A c.2774G>C, p.(Arg925Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.15557452G>C"	""	"likely pathogenic"	""
"0000845932"	"0"	"70"	"4"	"15591190"	"15591190"	"subst"	"0.00266216"	"00000"	"CC2D2A_000149"	"g.15591190C>G"	""	"{PMID:Kang 2016:27491411}"	""	"CC2D2A/JBTS9/ c.4202C>G, p.Thr1401Ser"	"single heterozygous variant in a recessive disease; no second causative allele found"	"Unknown"	"?"	""	"0"	""	""	"g.15589567C>G"	""	"likely pathogenic"	""
"0000845933"	"0"	"70"	"4"	"15591226"	"15591226"	"subst"	"0.000305509"	"00000"	"CC2D2A_000171"	"g.15591226G>A"	""	"{PMID:Kang 2016:27491411}"	""	"MKS6 c.4238G>A, p.Cys1413Tyr"	"single heterozygous variant in a recessive disease; no second causative allele found"	"Unknown"	"?"	""	"0"	""	""	"g.15589603G>A"	""	"likely pathogenic"	""
"0000850545"	"0"	"30"	"4"	"15504459"	"15504459"	"subst"	"0.00127095"	"02326"	"CC2D2A_000045"	"g.15504459T>G"	""	""	""	"CC2D2A(NM_001080522.2):c.351T>G (p.S117R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850546"	"0"	"50"	"4"	"15512895"	"15512895"	"subst"	"0"	"01804"	"CC2D2A_000242"	"g.15512895A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.566A>G (p.(Glu189Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850547"	"0"	"10"	"4"	"15516333"	"15516333"	"subst"	"0.00196327"	"02326"	"CC2D2A_000243"	"g.15516333G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.721G>A (p.E241K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000850548"	"0"	"30"	"4"	"15516447"	"15516447"	"subst"	"4.06167E-6"	"02330"	"CC2D2A_000244"	"g.15516447C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.835C>T (p.L279=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850549"	"0"	"50"	"4"	"15530334"	"15530334"	"subst"	"7.40527E-5"	"01804"	"CC2D2A_000098"	"g.15530334A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1451A>G (p.(Tyr484Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850550"	"0"	"30"	"4"	"15539523"	"15539523"	"subst"	"7.99421E-5"	"02330"	"CC2D2A_000139"	"g.15539523G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1766G>A (p.R589K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850551"	"0"	"30"	"4"	"15539587"	"15539587"	"subst"	"0.000364221"	"01943"	"CC2D2A_000245"	"g.15539587G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1830G>A (p.P610=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850555"	"0"	"30"	"4"	"15552438"	"15552438"	"subst"	"8.53359E-5"	"02330"	"CC2D2A_000246"	"g.15552438G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.2182-9G>A, CC2D2A(NM_001378615.1):c.2182-9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850556"	"0"	"50"	"4"	"15601208"	"15601208"	"subst"	"0.000155928"	"02326"	"CC2D2A_000157"	"g.15601208G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4553G>A (p.R1518Q), CC2D2A(NM_001378615.1):c.4553G>A (p.(Arg1518Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850557"	"0"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"02326"	"CC2D2A_000128"	"g.15601322A>T"	""	""	""	"CC2D2A(NM_001080522.2):c.4667A>T (p.D1556V), CC2D2A(NM_001378615.1):c.4667A>T (p.(Asp1556Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000859263"	"0"	"30"	"4"	"15504037"	"15504037"	"subst"	"0"	"02330"	"CC2D2A_000241"	"g.15504037G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.248-15G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859264"	"0"	"30"	"4"	"15511824"	"15511824"	"subst"	"0.000949331"	"02330"	"CC2D2A_000170"	"g.15511824G>T"	""	""	""	"CC2D2A(NM_001080522.2):c.501G>T (p.K167N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859268"	"0"	"90"	"4"	"15552439"	"15552439"	"subst"	"8.9386E-5"	"02330"	"CC2D2A_000247"	"g.15552439G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.2182-8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000859270"	"0"	"30"	"4"	"15601232"	"15601232"	"subst"	"1.62828E-5"	"01943"	"CC2D2A_000248"	"g.15601232C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.4577C>T (p.T1526I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859271"	"0"	"30"	"4"	"15602845"	"15602845"	"subst"	"0.000134436"	"02326"	"CC2D2A_000094"	"g.15602845G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4675-15G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000874660"	"3"	"70"	"4"	"15565047"	"15565047"	"del"	"0"	"00000"	"CC2D2A_000010"	"g.15565047del"	"frequency in 1500 in-house samples: 0"	"{PMID:Alfares 2018:30202406}"	""	"CC2D2A, NM_001080522.2, c.3084del, p.Lys1029Argfs*3"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.15563424del"	""	"likely pathogenic"	"ACMG"
"0000879049"	"0"	"50"	"4"	"15572047"	"15572048"	"ins"	"0"	"00000"	"CC2D2A_000016"	"g.15572047_15572048insTG"	""	"{PMID:Kim 2010:20671153}"	""	"WDPCP c.3522_3523_insTG"	"no protein annotation, extrapolated from nucleotide and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.15570424_15570425insTG"	""	"VUS"	""
"0000879050"	"0"	"50"	"4"	"15599090"	"15599090"	"subst"	"0"	"00000"	"CC2D2A_000021"	"g.15599090T>A"	""	"{PMID:Kim 2010:20671153}"	""	"WDPCP c.4496+2T>A"	"no protein annotation, extrapolated from nucleotide and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.15597467T>A"	""	"VUS"	""
"0000886158"	"0"	"30"	"4"	"15482860"	"15482860"	"subst"	"0.000205784"	"01804"	"CC2D2A_000163"	"g.15482860C>T"	""	""	""	"CC2D2A(NM_001164720.1):c.287C>T (p.T96M, p.(Thr96Met)), CC2D2A(NM_001164720.2):c.287C>T (p.T96M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886159"	"0"	"90"	"4"	"15513041"	"15513041"	"subst"	"5.5043E-6"	"01804"	"CC2D2A_000096"	"g.15513041G>T"	""	""	""	"CC2D2A(NM_001080522.2):c.712G>T (p.E238*, p.(Glu238*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000886160"	"0"	"30"	"4"	"15516495"	"15516495"	"dup"	"0"	"01804"	"CC2D2A_000133"	"g.15516495dup"	""	""	""	"CC2D2A(NM_001080522.2):c.880+3dup (p.?), CC2D2A(NM_001080522.2):c.880+3dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886161"	"0"	"30"	"4"	"15539554"	"15539554"	"subst"	"0"	"02330"	"CC2D2A_000249"	"g.15539554A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1797A>G (p.A599=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886162"	"0"	"30"	"4"	"15542617"	"15542617"	"subst"	"0.00241797"	"01804"	"CC2D2A_000126"	"g.15542617C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2161C>T (p.P721S, p.(Pro721Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886163"	"0"	"30"	"4"	"15542617"	"15542617"	"subst"	"0.00241797"	"02325"	"CC2D2A_000126"	"g.15542617C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2161C>T (p.P721S, p.(Pro721Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886171"	"0"	"30"	"4"	"15559035"	"15559035"	"subst"	"0.000134685"	"01804"	"CC2D2A_000250"	"g.15559035A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.2734A>G (p.(Arg912Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886172"	"0"	"50"	"4"	"15562176"	"15562176"	"subst"	"0.000199216"	"02327"	"CC2D2A_000251"	"g.15562176G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886174"	"0"	"50"	"4"	"15572102"	"15572102"	"subst"	"0.000157554"	"02327"	"CC2D2A_000252"	"g.15572102A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886175"	"0"	"50"	"4"	"15575818"	"15575818"	"subst"	"3.37368E-5"	"01804"	"CC2D2A_000253"	"g.15575818T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.3640T>C (p.(Tyr1214His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886176"	"0"	"50"	"4"	"15599057"	"15599057"	"subst"	"0"	"02327"	"CC2D2A_000254"	"g.15599057G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886177"	"0"	"50"	"4"	"15602873"	"15602873"	"subst"	"0"	"01804"	"CC2D2A_000160"	"g.15602873C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.4688C>T (p.(Pro1563Leu), p.P1563L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000908887"	"3"	"50"	"4"	"15504547"	"15504547"	"subst"	"0"	"00006"	"CC2D2A_000255"	"g.15504547G>T"	""	"{PMID:Bournazos 2022:34906502}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.15502924G>T"	""	"VUS"	""
"0000912073"	"0"	"30"	"4"	"15517532"	"15517532"	"subst"	"0.00124224"	"02326"	"CC2D2A_000057"	"g.15517532T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.922T>C (p.F308L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912074"	"0"	"90"	"4"	"15560833"	"15560833"	"del"	"0"	"02326"	"CC2D2A_000029"	"g.15560833del"	""	""	""	"CC2D2A(NM_001080522.2):c.2874delG (p.(Glu959AsnfsTer3)), CC2D2A(NM_001080522.2):c.2875delG (p.E959Nfs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000918110"	"11"	"90"	"4"	"15575804"	"15575804"	"subst"	"0"	"01401"	"CC2D2A_000256"	"g.15575804C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15574181C>T"	""	"likely pathogenic (recessive)"	""
"0000918166"	"21"	"70"	"4"	"15570905"	"15578067"	"del"	"0"	"01401"	"CC2D2A_000257"	"g.15570905_15578067del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.15569282_15576444del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000924077"	"0"	"50"	"4"	"15554924"	"15554924"	"subst"	"4.09453E-6"	"01804"	"CC2D2A_000258"	"g.15554924C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2482C>T (p.(Arg828Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000924078"	"0"	"50"	"4"	"15597782"	"15597782"	"subst"	"0"	"02327"	"CC2D2A_000259"	"g.15597782A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928874"	"0"	"50"	"4"	"15529167"	"15529167"	"subst"	"8.15428E-6"	"02325"	"CC2D2A_000260"	"g.15529167C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.1247C>T (p.T416I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928876"	"0"	"30"	"4"	"15554917"	"15554917"	"subst"	"0.000527512"	"02326"	"CC2D2A_000261"	"g.15554917C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2475C>T (p.I825=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000928877"	"0"	"50"	"4"	"15572091"	"15572091"	"subst"	"0"	"02325"	"CC2D2A_000106"	"g.15572091C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.3566C>T (p.P1189L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928878"	"0"	"70"	"4"	"15587793"	"15587793"	"subst"	"2.04127E-5"	"02327"	"CC2D2A_000214"	"g.15587793G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000928879"	"0"	"70"	"4"	"15597777"	"15597777"	"subst"	"1.32294E-5"	"02327"	"CC2D2A_000153"	"g.15597777T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.4384T>C (p.W1462R), CC2D2A(NM_001378615.1):c.4384T>C (p.(Trp1462Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000928880"	"0"	"50"	"4"	"15599051"	"15599051"	"subst"	"0.000430188"	"01804"	"CC2D2A_000262"	"g.15599051C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.4459C>T (p.(Arg1487Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000948273"	"0"	"30"	"4"	"15482860"	"15482860"	"subst"	"0.000205784"	"02326"	"CC2D2A_000163"	"g.15482860C>T"	""	""	""	"CC2D2A(NM_001164720.1):c.287C>T (p.T96M, p.(Thr96Met)), CC2D2A(NM_001164720.2):c.287C>T (p.T96M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948277"	"0"	"30"	"4"	"15560890"	"15560890"	"dup"	"0"	"02326"	"CC2D2A_000079"	"g.15560890dup"	""	""	""	"CC2D2A(NM_001080522.2):c.2922+10dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948279"	"0"	"30"	"4"	"15570997"	"15570997"	"subst"	"0.00018502"	"02330"	"CC2D2A_000175"	"g.15570997G>T"	""	""	""	"CC2D2A(NM_001080522.2):c.3480G>T (p.L1160=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948280"	"0"	"30"	"4"	"15572034"	"15572034"	"subst"	"0.00155956"	"02326"	"CC2D2A_000119"	"g.15572034G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.3509G>A (p.R1170K, p.(Arg1170Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000951825"	"1"	"90"	"4"	"15565047"	"15565047"	"del"	"0"	"00006"	"CC2D2A_000010"	"g.15565047del"	""	"{PMID:Tallila 2008:19466712}"	""	"3084delG"	""	"Germline"	""	""	"0"	""	""	"g.15563424del"	""	"pathogenic (recessive)"	""
"0000951826"	"2"	"90"	"4"	"15589553"	"15589553"	"del"	"0"	"00006"	"CC2D2A_000020"	"g.15589553del"	""	"{PMID:Tallila 2008:19466712}"	""	"4179delG (Gly1394fs)"	""	"Germline"	""	""	"0"	""	""	"g.15587930del"	""	"pathogenic (recessive)"	""
"0000951827"	"1"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00006"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Tallila 2008:19466712}"	""	"3289delG"	""	"Germline"	""	""	"0"	""	""	"g.15567677del"	""	"pathogenic (recessive)"	""
"0000951828"	"2"	"90"	"4"	"15569352"	"15569352"	"subst"	"3.38304E-5"	"00006"	"CC2D2A_000013"	"g.15569352C>T"	""	"{PMID:Tallila 2008:19466712}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567729C>T"	""	"pathogenic (recessive)"	""
"0000951829"	"1"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00006"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Tallila 2008:19466712}"	""	"3289delG"	""	"Germline"	""	""	"0"	""	""	"g.15567677del"	""	"pathogenic (recessive)"	""
"0000951830"	"2"	"90"	"4"	"15581798"	"15581801"	"del"	"0"	"00006"	"CC2D2A_000018"	"g.15581798_15581801del"	""	"{PMID:Tallila 2008:19466712}"	""	"3975delA+1_3delGTA"	""	"Germline"	""	""	"0"	""	""	"g.15580175_15580178del"	""	"pathogenic (recessive)"	""
"0000951847"	"3"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00006"	"CC2D2A_000007"	"g.15538697C>T"	""	"{PMID:Tallila 2008:18513680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000951848"	"3"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00006"	"CC2D2A_000007"	"g.15538697C>T"	""	"{PMID:Tallila 2008:18513680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000951849"	"3"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00006"	"CC2D2A_000007"	"g.15538697C>T"	""	"{PMID:Tallila 2008:18513680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000951850"	"3"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00006"	"CC2D2A_000007"	"g.15538697C>T"	""	"{PMID:Tallila 2008:18513680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000951851"	"3"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00006"	"CC2D2A_000007"	"g.15538697C>T"	""	"{PMID:Tallila 2008:18513680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000951852"	"3"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00006"	"CC2D2A_000007"	"g.15538697C>T"	""	"{PMID:Tallila 2008:18513680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000951853"	"3"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00006"	"CC2D2A_000007"	"g.15538697C>T"	""	"{PMID:Tallila 2008:18513680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000951854"	"3"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00006"	"CC2D2A_000007"	"g.15538697C>T"	""	"{PMID:Tallila 2008:18513680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000951855"	"3"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00006"	"CC2D2A_000007"	"g.15538697C>T"	""	"{PMID:Tallila 2008:18513680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000951856"	"3"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00006"	"CC2D2A_000007"	"g.15538697C>T"	""	"{PMID:Tallila 2008:18513680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000951857"	"3"	"90"	"4"	"15538697"	"15538697"	"subst"	"0.000350995"	"00006"	"CC2D2A_000007"	"g.15538697C>T"	""	"{PMID:Tallila 2008:18513680}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15537074C>T"	""	"pathogenic (recessive)"	""
"0000959866"	"3"	"50"	"4"	"15529151"	"15529151"	"subst"	"4.07352E-6"	"00006"	"CC2D2A_000263"	"g.15529151T>G"	""	"{PMID:Chia 2018:29784083}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15527528T>G"	""	"likely benign"	""
"0000959939"	"3"	"50"	"4"	"15529151"	"15529151"	"subst"	"4.07352E-6"	"00006"	"CC2D2A_000263"	"g.15529151T>G"	""	"{PMID:Chia 2018:29784083}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15527528T>G"	""	"likely benign"	""
"0000963036"	"0"	"30"	"4"	"15512865"	"15512865"	"subst"	"0.00010098"	"01804"	"CC2D2A_000049"	"g.15512865G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.541-5G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963040"	"0"	"30"	"4"	"15539578"	"15539578"	"subst"	"0.000317925"	"02326"	"CC2D2A_000140"	"g.15539578T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.1821T>C (p.I607=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963041"	"0"	"30"	"4"	"15539587"	"15539587"	"subst"	"0.000364221"	"02326"	"CC2D2A_000245"	"g.15539587G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1830G>A (p.P610=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963046"	"0"	"90"	"4"	"15572060"	"15572060"	"subst"	"2.48872E-5"	"02330"	"CC2D2A_000264"	"g.15572060G>T"	""	""	""	"CC2D2A(NM_001080522.2):c.3535G>T (p.E1179*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000976150"	"0"	"30"	"4"	"15482861"	"15482861"	"subst"	"0.000142735"	"02326"	"CC2D2A_000038"	"g.15482861G>A"	""	""	""	"CC2D2A(NM_001164720.2):c.288G>A (p.T96=), CC2D2A(NM_001164720.3):c.288G>A (p.T96=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976151"	"0"	"30"	"4"	"15482903"	"15482903"	"subst"	"0.00202007"	"01804"	"CC2D2A_000039"	"g.15482903C>T"	""	""	""	"CC2D2A(NM_001164720.1):c.330C>T (p.G110=), CC2D2A(NM_001164720.2):c.330C>T (p.G110=), CC2D2A(NM_001164720.3):c.330C>T (p.G110=, p.(Gly110=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976154"	"0"	"50"	"4"	"15517577"	"15517577"	"subst"	"0"	"01804"	"CC2D2A_000265"	"g.15517577G>A"	""	""	""	"CC2D2A(NM_001378615.1):c.967G>A (p.(Ala323Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976155"	"0"	"90"	"4"	"15529187"	"15529187"	"subst"	"0"	"02326"	"CC2D2A_000062"	"g.15529187C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.1267C>T (p.R423*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000976157"	"0"	"30"	"4"	"15539594"	"15539594"	"subst"	"0.000129319"	"02326"	"CC2D2A_000141"	"g.15539594G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1837G>A (p.E613K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976158"	"0"	"50"	"4"	"15542512"	"15542512"	"subst"	"0.000273642"	"01804"	"CC2D2A_000142"	"g.15542512G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.2056G>A (p.V686M), CC2D2A(NM_001378615.1):c.2056G>A (p.(Val686Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976162"	"0"	"50"	"4"	"15552553"	"15552553"	"subst"	"4.06702E-6"	"01804"	"CC2D2A_000266"	"g.15552553A>C"	""	""	""	"CC2D2A(NM_001378615.1):c.2288A>C (p.(Glu763Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976168"	"0"	"50"	"4"	"15560843"	"15560843"	"subst"	"0.000107708"	"01804"	"CC2D2A_000078"	"g.15560843A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.2885A>G (p.D962G), CC2D2A(NM_001378615.1):c.2885A>G (p.(Asp962Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976169"	"0"	"50"	"4"	"15569310"	"15569310"	"subst"	"1.28626E-5"	"01804"	"CC2D2A_000267"	"g.15569310G>A"	""	""	""	"CC2D2A(NM_001378615.1):c.3299G>A (p.(Arg1100His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976170"	"0"	"50"	"4"	"15572109"	"15572109"	"del"	"0"	"01804"	"CC2D2A_000017"	"g.15572109del"	""	""	""	"CC2D2A(NM_001378615.1):c.3584del (p.(Phe1195Serfs*11))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976171"	"0"	"50"	"4"	"15589471"	"15589471"	"subst"	"0.000219544"	"01804"	"CC2D2A_000268"	"g.15589471A>C"	""	""	""	"CC2D2A(NM_001378615.1):c.4098A>C (p.(Glu1366Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976172"	"0"	"50"	"4"	"15601208"	"15601208"	"subst"	"0.000155928"	"01804"	"CC2D2A_000157"	"g.15601208G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.4553G>A (p.R1518Q), CC2D2A(NM_001378615.1):c.4553G>A (p.(Arg1518Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976173"	"0"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"01804"	"CC2D2A_000128"	"g.15601322A>T"	""	""	""	"CC2D2A(NM_001080522.2):c.4667A>T (p.D1556V), CC2D2A(NM_001378615.1):c.4667A>T (p.(Asp1556Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000985103"	"1"	"70"	"4"	"15564966"	"15564966"	"subst"	"0"	"04682"	"CC2D2A_000269"	"g.15564966T>G"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"effect on RNA predicted from in vitro mini-gene splicing assay"	"Germline"	""	""	"0"	""	""	"g.15563343T>G"	""	"pathogenic"	""
"0000985104"	"1"	"70"	"4"	"15530214"	"15530214"	"subst"	"0"	"04682"	"CC2D2A_000270"	"g.15530214C>G"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"ACMG PVS1, PM2, PS3, PM3"	"Germline"	""	""	"0"	""	""	"g.15528591C>G"	""	"pathogenic"	"ACMG"
"0000985105"	"1"	"70"	"4"	"15542443"	"15542443"	"subst"	"9.61474E-6"	"04682"	"CC2D2A_000271"	"g.15542443A>G"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"effect on RNA predicted from in vitro mini-gene splicing assay; ACMG PVS1; PM2; PS3; PM3"	"Germline"	""	""	"0"	""	""	"g.15540820A>G"	""	"pathogenic"	"ACMG"
"0000985106"	"1"	"90"	"4"	"15597685"	"15597685"	"subst"	"1.38395E-5"	"04682"	"CC2D2A_000272"	"g.15597685T>C"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"effect on RNA predicted from in vitro mini-gene splicing assay (variant suggested to affect branch point); ACMG PM3; PM2; PS3; PM4"	"Germline"	""	""	"0"	""	""	"g.15596062T>C"	""	"pathogenic"	""
"0000985148"	"2"	"70"	"4"	"15565047"	"15565047"	"del"	"0"	"04682"	"CC2D2A_000010"	"g.15565047del"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15563424del"	""	"pathogenic"	""
"0000985149"	"2"	"70"	"4"	"15565047"	"15565047"	"del"	"0"	"04682"	"CC2D2A_000010"	"g.15565047del"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15563424del"	""	"pathogenic"	""
"0000985150"	"2"	"70"	"4"	"15569300"	"15569300"	"del"	"0"	"04682"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15567677del"	""	"pathogenic"	""
"0000985151"	"2"	"70"	"4"	"15565047"	"15565047"	"del"	"0"	"04682"	"CC2D2A_000010"	"g.15565047del"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15563424del"	""	"pathogenic"	""
"0000994130"	"0"	"30"	"4"	"15480853"	"15480853"	"subst"	"9.46611E-5"	"01804"	"CC2D2A_000273"	"g.15480853A>G"	""	""	""	"CC2D2A(NM_020785.2):c.130A>G (p.(Thr44Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000994136"	"0"	"50"	"4"	"15538580"	"15538580"	"subst"	"1.21974E-5"	"01804"	"CC2D2A_000274"	"g.15538580G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.1645G>A (p.(Glu549Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994137"	"0"	"90"	"4"	"15538601"	"15538601"	"del"	"0"	"02329"	"CC2D2A_000275"	"g.15538601del"	""	""	""	"CC2D2A(NM_001080522.2):c.1666delA (p.I556*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000994143"	"0"	"90"	"4"	"15560806"	"15560806"	"subst"	"0"	"02329"	"CC2D2A_000077"	"g.15560806C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.2848C>T (p.R950*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000994144"	"0"	"30"	"4"	"15569014"	"15569014"	"subst"	"8.57199E-5"	"01804"	"CC2D2A_000276"	"g.15569014C>T"	""	""	""	"CC2D2A(NM_001080522.2):c.3197C>T (p.(Pro1066Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001011908"	"1"	"90"	"4"	"15601322"	"15601322"	"subst"	"0.000213631"	"00006"	"CC2D2A_000128"	"g.15601322A>T"	""	"{PMID:Salinas 2020:33084218}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15599699A>T"	"VCV000217607.7"	"pathogenic (recessive)"	""
"0001011992"	"2"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"00006"	"CC2D2A_000012"	"g.15569300del"	""	"{PMID:Salinas 2020:33084218}"	""	"3289delG"	""	"Germline"	""	""	"0"	""	""	"g.15567677del"	"SUB7801072"	"pathogenic (recessive)"	""
"0001013941"	"0"	"30"	"4"	"15539735"	"15539735"	"subst"	"0.00194844"	"02330"	"CC2D2A_000188"	"g.15539735G>C"	""	""	""	"CC2D2A(NM_001080522.2):c.1978G>C (p.V660L, p.(Val660Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001022135"	"0"	"70"	"4"	"15587777"	"15587777"	"subst"	"8.1626E-6"	"04796"	"CC2D2A_000181"	"g.15587777C>A"	""	""	""	""	"effect on RNA exon skipping"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.15586154C>A"	""	"likely pathogenic"	""
"0001024897"	"0"	"50"	"4"	"15534868"	"15534868"	"subst"	"0.00648421"	"01943"	"CC2D2A_000063"	"g.15534868A>G"	""	""	""	"CC2D2A(NM_001080522.2):c.1519A>G (p.K507E, p.(Lys507Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034384"	"0"	"90"	"4"	"15504502"	"15504502"	"subst"	"3.29465E-5"	"01804"	"CC2D2A_000278"	"g.15504502C>T"	""	""	""	"CC2D2A(NM_001378615.1):c.394C>T (p.(Arg132*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001034385"	"0"	"30"	"4"	"15517637"	"15517637"	"subst"	"0"	"01804"	"CC2D2A_000279"	"g.15517637C>T"	""	""	""	"CC2D2A(NM_001378615.1):c.1017+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034386"	"0"	"50"	"4"	"15539652"	"15539652"	"subst"	"0"	"01804"	"CC2D2A_000280"	"g.15539652A>G"	""	""	""	"CC2D2A(NM_001378615.1):c.1895A>G (p.(Gln632Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034387"	"0"	"50"	"4"	"15542617"	"15542617"	"subst"	"6.66107E-6"	"01804"	"CC2D2A_000281"	"g.15542617C>A"	""	""	""	"CC2D2A(NM_001378615.1):c.2161C>A (p.(Pro721Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034400"	"0"	"90"	"4"	"15565108"	"15565108"	"subst"	"2.06209E-5"	"01804"	"CC2D2A_000011"	"g.15565108C>T"	""	""	""	"CC2D2A(NM_001378615.1):c.3145C>T (p.(Arg1049Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001034402"	"0"	"50"	"4"	"15569358"	"15569358"	"subst"	"3.8155E-5"	"01804"	"CC2D2A_000207"	"g.15569358C>T"	""	""	""	"CC2D2A(NM_001378615.1):c.3347C>T (p.(Thr1116Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034403"	"0"	"50"	"4"	"15575890"	"15575890"	"subst"	"2.01958E-5"	"01804"	"CC2D2A_000282"	"g.15575890A>G"	""	""	""	"CC2D2A(NM_001378615.1):c.3712A>G (p.(Ile1238Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001044583"	"11"	"90"	"4"	"15554886"	"15554886"	"del"	"0"	"00006"	"CC2D2A_000277"	"g.15554886del"	""	"{PMID:Zhang 2022:35958498}"	""	"2444delC"	""	"Germline"	""	""	"0"	""	""	"g.15553263del"	""	"pathogenic (recessive)"	""
"0001044584"	"21"	"90"	"4"	"15591226"	"15591226"	"subst"	"0.000305509"	"00006"	"CC2D2A_000171"	"g.15591226G>A"	""	"{PMID:Zhang 2022:35958498}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15589603G>A"	""	"pathogenic (recessive)"	""
"0001051703"	"0"	"50"	"4"	"15482898"	"15482898"	"subst"	"1.62343E-5"	"01804"	"CC2D2A_000283"	"g.15482898C>T"	""	""	""	"CC2D2A(NM_001164720.3):c.325C>T (p.(Arg109*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001051704"	"0"	"50"	"4"	"15534914"	"15534914"	"subst"	"0"	"01804"	"CC2D2A_000284"	"g.15534914T>C"	""	""	""	"CC2D2A(NM_001378615.1):c.1565T>C (p.(Phe522Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001051705"	"0"	"50"	"4"	"15552438"	"15552438"	"subst"	"8.53359E-5"	"01804"	"CC2D2A_000246"	"g.15552438G>A"	""	""	""	"CC2D2A(NM_001080522.2):c.2182-9G>A, CC2D2A(NM_001378615.1):c.2182-9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001051706"	"0"	"50"	"4"	"15552438"	"15552439"	"delins"	"0"	"01804"	"CC2D2A_000285"	"g.15552438_15552439delinsAA"	""	""	""	"CC2D2A(NM_001378615.1):c.2182-9_2182-8delinsAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001051707"	"0"	"90"	"4"	"15569300"	"15569300"	"del"	"0"	"01804"	"CC2D2A_000012"	"g.15569300del"	""	""	""	"CC2D2A(NM_001080522.2):c.3289-1delG, CC2D2A(NM_001378615.1):c.3289del (p.(Val1097PhefsTer2))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001051708"	"0"	"70"	"4"	"15575845"	"15575845"	"subst"	"0"	"01804"	"CC2D2A_000107"	"g.15575845G>T"	""	""	""	"CC2D2A(NM_001378615.1):c.3667G>T (p.(Glu1223*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001051709"	"0"	"50"	"4"	"15581796"	"15581796"	"subst"	"4.0803E-6"	"01804"	"CC2D2A_000286"	"g.15581796T>G"	""	""	""	"CC2D2A(NM_001378615.1):c.3975+2T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001051710"	"0"	"70"	"4"	"15597777"	"15597777"	"subst"	"1.32294E-5"	"01804"	"CC2D2A_000153"	"g.15597777T>C"	""	""	""	"CC2D2A(NM_001080522.2):c.4384T>C (p.W1462R), CC2D2A(NM_001378615.1):c.4384T>C (p.(Trp1462Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001051711"	"0"	"50"	"4"	"15601176"	"15601176"	"subst"	"4.48165E-6"	"01804"	"CC2D2A_000287"	"g.15601176A>T"	""	""	""	"CC2D2A(NM_001378615.1):c.4521A>T (p.(Lys1507Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001051712"	"0"	"50"	"4"	"15603037"	"15603037"	"subst"	"6.99639E-5"	"01804"	"CC2D2A_000172"	"g.15603037C>T"	""	""	""	"CC2D2A(NM_001378615.1):c.4852C>T (p.(Arg1618Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001058518"	"0"	"90"	"4"	"15601188"	"15601188"	"subst"	"4.202E-6"	"00006"	"CC2D2A_000289"	"g.15601188G>C"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.15599565G>C"	""	"pathogenic"	""
"0001058519"	"0"	"70"	"4"	"15504048"	"15504049"	"ins"	"0"	"00006"	"CC2D2A_000225"	"g.15504048_15504049insAAGTTTT"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.15502425_15502426insAAGTTTT"	""	"likely pathogenic"	""
"0001058520"	"0"	"70"	"4"	"15581721"	"15581721"	"subst"	"0"	"00006"	"CC2D2A_000288"	"g.15581721C>T"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.15580098C>T"	""	"likely pathogenic"	""
"0001058521"	"0"	"70"	"4"	"15587793"	"15587793"	"subst"	"2.04127E-5"	"00006"	"CC2D2A_000214"	"g.15587793G>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.15586170G>A"	""	"likely pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes CC2D2A
## Count = 577
"{{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}}"
"0000016445"	"00000244"	"99"	"517"	"0"	"517"	"0"	"c.517C>T"	"r.(517c>u)"	"p.(Arg173*)"	"8"
"0000016446"	"00000244"	"99"	"834"	"0"	"834"	"0"	"c.834del"	"r.(?)"	"p.(Leu279Cysfs*40)"	"12"
"0000016447"	"00000244"	"99"	"1339"	"0"	"1339"	"0"	"c.1339del"	"r.(1339del)"	"p.(Ala447Argfs*11)"	"13"
"0000016448"	"00000244"	"77"	"1538"	"0"	"1538"	"0"	"c.1538G>A"	"r.(1538g>a)"	"p.(Trp513*)"	"17"
"0000016449"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.1761_1764del"	"p.Gln588Glyfs*29"	"18"
"0000016450"	"00000244"	"77"	"2486"	"1"	"2486"	"1"	"c.2486+1G>C"	"r.spl"	"p.?"	"22i"
"0000016451"	"00000244"	"99"	"2773"	"0"	"2773"	"0"	"c.2773C>T"	"r.(2773c>u)"	"p.(Arg925*)"	"24"
"0000016452"	"00000244"	"90"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(?)"	"p.(Lys1029Argfs*3)"	"27"
"0000016453"	"00000244"	"77"	"3145"	"0"	"3145"	"0"	"c.3145C>G"	"r.(3145c>g)"	"p.(Arg1049Gly)"	"27"
"0000016454"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.[(3289del, spl?)]"	"p.[(Val1097PhefsTer2,?)]"	"29"
"0000016455"	"00000244"	"70"	"3341"	"0"	"3341"	"0"	"c.3341C>T"	"r.(3341c>u)"	"p.(Thr1114Met)"	"29"
"0000016456"	"00000244"	"77"	"3399"	"-3"	"3399"	"-3"	"c.3399-3C>A"	"r.spl?"	"p.?"	"29i"
"0000016457"	"00000244"	"99"	"3399"	"-1"	"3975"	"1"	"c.(3398+1_3399-1)_(3975+1_3976-1)del"	"r.(del)"	"p.?"	"27i_31i"
"0000016458"	"00000244"	"99"	"3522"	"0"	"3523"	"0"	"c.3522_3523insTG"	"r.(3522_3523insug)"	"p.(His1175Cysfs*13)"	"31"
"0000016459"	"00000244"	"99"	"3584"	"0"	"3584"	"0"	"c.3584del"	"r.(?)"	"p.(Phe1195Serfs*11)"	"31"
"0000016460"	"00000244"	"90"	"3975"	"4"	"3975"	"7"	"c.3975+4_3975+7del"	"r.spl"	"p.?"	"33_33i"
"0000016462"	"00000244"	"90"	"4179"	"1"	"4179"	"1"	"c.4179+1del"	"r.spl"	"p.?"	"35i"
"0000016463"	"00000244"	"77"	"4496"	"2"	"4496"	"2"	"c.4496+2T>A"	"r.spl"	"p.?"	"38i"
"0000016464"	"00000244"	"77"	"3544"	"0"	"3544"	"0"	"c.3544T>C"	"r.(3544u>c)"	"p.(Trp1182Arg)"	"31"
"0000016465"	"00000244"	"99"	"3774"	"0"	"3774"	"0"	"c.3774dup"	"r.(?)"	"p.(Glu1259*)"	"33"
"0000016466"	"00000244"	"77"	"685"	"0"	"687"	"0"	"c.685_687del"	"r.(?)"	"p.(Glu229del)"	"11"
"0000016467"	"00000244"	"77"	"3893"	"0"	"3893"	"0"	"c.3893T>A"	"r.(3893u>a)"	"p.(Val1298Asp)"	"33"
"0000052261"	"00000244"	"70"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.spl?"	"p.(Val1097PhefsTer2)"	"26i"
"0000052262"	"00000244"	"70"	"4577"	"0"	"4577"	"0"	"c.4577C>A"	"r.(?)"	"p.(Thr1526Asn)"	"37"
"0000059614"	"00000244"	"70"	"1810"	"0"	"1810"	"0"	"c.1810G>A"	"r.(?)"	"p.(Gly604Ser)"	"17"
"0000059615"	"00000244"	"50"	"685"	"0"	"687"	"0"	"c.685_687del"	"r.(?)"	"p.(Glu229del)"	"9"
"0000059616"	"00000244"	"50"	"685"	"0"	"687"	"0"	"c.685_687del"	"r.(?)"	"p.(Glu229del)"	"9"
"0000059617"	"00000244"	"50"	"685"	"0"	"687"	"0"	"c.685_687del"	"r.(?)"	"p.(Glu229del)"	"9"
"0000079575"	"00000244"	"00"	"4763"	"0"	"4763"	"0"	"c.4763T>C"	"r.(?)"	"p.(Val1588Ala)"	"38"
"0000086041"	"00000244"	"90"	"2803"	"0"	"2803"	"0"	"c.2803C>T"	"r.(?)"	"p.(Arg935*)"	"22"
"0000086042"	"00000244"	"90"	"3774"	"0"	"3774"	"0"	"c.3774dup"	"r.(?)"	"p.(Glu1259*)"	"31"
"0000086043"	"00000244"	"90"	"2875"	"0"	"2875"	"0"	"c.2875del"	"r.(?)"	"p.(Glu959Asnfs*3)"	"23"
"0000130278"	"00000244"	"70"	"650"	"0"	"650"	"0"	"c.650del"	"r.(?)"	"p.(Gly217Glufs*41)"	""
"0000246222"	"00000244"	"10"	"1519"	"0"	"1519"	"0"	"c.1519A>G"	"r.(?)"	"p.(Lys507Glu)"	""
"0000246262"	"00000244"	"10"	"2829"	"18"	"2829"	"18"	"c.2829+18del"	"r.(=)"	"p.(=)"	""
"0000249604"	"00000244"	"70"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""
"0000250965"	"00000244"	"10"	"1519"	"0"	"1519"	"0"	"c.1519A>G"	"r.(?)"	"p.(Lys507Glu)"	""
"0000251011"	"00000244"	"10"	"762"	"0"	"762"	"0"	"c.762A>G"	"r.(?)"	"p.(Leu254=)"	""
"0000251310"	"00000244"	"10"	"2830"	"-97"	"2830"	"-97"	"c.2830-97A>G"	"r.(=)"	"p.(=)"	""
"0000253530"	"00000244"	"10"	"1127"	"0"	"1127"	"0"	"c.1127A>C"	"r.(?)"	"p.(Glu376Ala)"	""
"0000254185"	"00000244"	"30"	"4862"	"0"	"4862"	"0"	"c.4862A>G"	"r.(?)"	"p.(Ter1621=)"	""
"0000255897"	"00000244"	"50"	"2885"	"0"	"2885"	"0"	"c.2885A>G"	"r.(?)"	"p.(Asp962Gly)"	""
"0000255993"	"00000244"	"50"	"3157"	"0"	"3157"	"0"	"c.3157A>G"	"r.(?)"	"p.(Ile1053Val)"	""
"0000264348"	"00000244"	"10"	"1150"	"-13"	"1150"	"-13"	"c.1150-13C>G"	"r.(=)"	"p.(=)"	""
"0000264349"	"00000244"	"10"	"1978"	"0"	"1978"	"0"	"c.1978G>A"	"r.(?)"	"p.(Val660Ile)"	""
"0000264350"	"00000244"	"10"	"247"	"410"	"247"	"410"	"c.247+410G>A"	"r.(=)"	"p.(=)"	""
"0000264352"	"00000244"	"10"	"3280"	"0"	"3280"	"0"	"c.3280C>G"	"r.(?)"	"p.(Leu1094Val)"	""
"0000264353"	"00000244"	"70"	"336"	"1"	"336"	"1"	"c.336+1G>T"	"r.spl?"	"p.?"	""
"0000264354"	"00000244"	"10"	"3509"	"0"	"3509"	"0"	"c.3509G>A"	"r.(?)"	"p.(Arg1170Lys)"	""
"0000264355"	"00000244"	"10"	"355"	"0"	"355"	"0"	"c.355T>C"	"r.(?)"	"p.(Leu119=)"	""
"0000264356"	"00000244"	"10"	"4014"	"0"	"4014"	"0"	"c.4014G>A"	"r.(?)"	"p.(Leu1338=)"	""
"0000264357"	"00000244"	"10"	"4315"	"-13"	"4315"	"-13"	"c.4315-13T>C"	"r.(=)"	"p.(=)"	""
"0000264358"	"00000244"	"90"	"4489"	"0"	"4489"	"0"	"c.4489C>T"	"r.(?)"	"p.(Gln1497Ter)"	""
"0000264359"	"00000244"	"10"	"4675"	"-15"	"4675"	"-15"	"c.4675-15G>A"	"r.(=)"	"p.(=)"	""
"0000264360"	"00000244"	"10"	"685"	"0"	"687"	"0"	"c.685_687del"	"r.(?)"	"p.(Glu229del)"	""
"0000264361"	"00000244"	"30"	"922"	"0"	"922"	"0"	"c.922T>C"	"r.(?)"	"p.(Phe308Leu)"	""
"0000266516"	"00000244"	"10"	"2003"	"19"	"2003"	"19"	"c.2003+19C>T"	"r.(=)"	"p.(=)"	""
"0000266517"	"00000244"	"30"	"541"	"-20"	"541"	"-20"	"c.541-20T>G"	"r.(=)"	"p.(=)"	""
"0000266518"	"00000244"	"10"	"685"	"0"	"687"	"0"	"c.685_687del"	"r.(?)"	"p.(Glu229del)"	""
"0000269829"	"00000244"	"10"	"247"	"553"	"247"	"553"	"c.247+553G>A"	"r.(=)"	"p.(=)"	""
"0000269830"	"00000244"	"30"	"247"	"751"	"247"	"751"	"c.247+751C>T"	"r.(=)"	"p.(=)"	""
"0000269831"	"00000244"	"10"	"247"	"453"	"247"	"453"	"c.247+453G>A"	"r.(=)"	"p.(=)"	""
"0000269832"	"00000244"	"90"	"123"	"446"	"123"	"446"	"c.123+446G>A"	"r.(=)"	"p.(=)"	""
"0000269833"	"00000244"	"10"	"156"	"0"	"156"	"0"	"c.156C>T"	"r.(?)"	"p.(Ser52=)"	""
"0000269834"	"00000244"	"10"	"248"	"-32"	"248"	"-32"	"c.248-32del"	"r.(=)"	"p.(=)"	""
"0000269836"	"00000244"	"10"	"4675"	"-87"	"4675"	"-87"	"c.4675-87del"	"r.(=)"	"p.(=)"	""
"0000269838"	"00000244"	"10"	"541"	"-25"	"541"	"-25"	"c.541-25G>T"	"r.(=)"	"p.(=)"	""
"0000269839"	"00000244"	"30"	"685"	"0"	"687"	"0"	"c.685_687del"	"r.(?)"	"p.(Glu229del)"	""
"0000269840"	"00000244"	"90"	"945"	"0"	"945"	"0"	"c.945C>A"	"r.(?)"	"p.(Tyr315Ter)"	""
"0000272698"	"00000244"	"30"	"1162"	"0"	"1162"	"0"	"c.1162G>A"	"r.(?)"	"p.(Val388Ile)"	""
"0000272699"	"00000244"	"10"	"124"	"-6"	"124"	"-6"	"c.124-6C>T"	"r.(=)"	"p.(=)"	""
"0000272700"	"00000244"	"90"	"1267"	"0"	"1267"	"0"	"c.1267C>T"	"r.(?)"	"p.(Arg423Ter)"	""
"0000272701"	"00000244"	"10"	"156"	"0"	"156"	"0"	"c.156C>T"	"r.(?)"	"p.(Ser52=)"	""
"0000272702"	"00000244"	"30"	"1722"	"0"	"1722"	"0"	"c.1722C>T"	"r.(?)"	"p.(Tyr574=)"	""
"0000272703"	"00000244"	"50"	"1765"	"-8"	"1765"	"-8"	"c.1765-8C>G"	"r.(=)"	"p.(=)"	""
"0000272704"	"00000244"	"50"	"1889"	"0"	"1889"	"0"	"c.1889T>G"	"r.(?)"	"p.(Ile630Arg)"	""
"0000272705"	"00000244"	"50"	"1984"	"0"	"1984"	"0"	"c.1984C>T"	"r.(?)"	"p.(Pro662Ser)"	""
"0000272706"	"00000244"	"10"	"2003"	"19"	"2003"	"19"	"c.2003+19C>T"	"r.(=)"	"p.(=)"	""
"0000272707"	"00000244"	"30"	"2039"	"0"	"2039"	"0"	"c.2039G>A"	"r.(?)"	"p.(Arg680His)"	""
"0000272708"	"00000244"	"50"	"2162"	"0"	"2162"	"0"	"c.2162C>T"	"r.(?)"	"p.(Pro721Leu)"	""
"0000272709"	"00000244"	"30"	"2259"	"0"	"2259"	"0"	"c.2259C>T"	"r.(?)"	"p.(Val753=)"	""
"0000272710"	"00000244"	"30"	"2483"	"0"	"2483"	"0"	"c.2483G>A"	"r.(?)"	"p.(Arg828Gln)"	""
"0000272711"	"00000244"	"50"	"247"	"379"	"247"	"379"	"c.247+379T>C"	"r.(=)"	"p.(=)"	""
"0000272712"	"00000244"	"90"	"2848"	"0"	"2848"	"0"	"c.2848C>T"	"r.(?)"	"p.(Arg950Ter)"	""
"0000272713"	"00000244"	"90"	"2913"	"0"	"2913"	"0"	"c.2913C>A"	"r.(?)"	"p.(Tyr971Ter)"	""
"0000272714"	"00000244"	"30"	"2922"	"10"	"2922"	"10"	"c.2922+10dup"	"r.(=)"	"p.(=)"	""
"0000272715"	"00000244"	"30"	"2923"	"-13"	"2923"	"-13"	"c.2923-13T>C"	"r.(=)"	"p.(=)"	""
"0000272716"	"00000244"	"10"	"3201"	"0"	"3201"	"0"	"c.3201G>A"	"r.(?)"	"p.(Ser1067=)"	""
"0000272717"	"00000244"	"50"	"217"	"0"	"217"	"0"	"c.217C>T"	"r.(?)"	"p.(Leu73=)"	""
"0000272718"	"00000244"	"90"	"3288"	"2"	"3288"	"2"	"c.3288+2del"	"r.spl?"	"p.?"	""
"0000272719"	"00000244"	"50"	"247"	"452"	"247"	"452"	"c.247+452C>T"	"r.(=)"	"p.(=)"	""
"0000272720"	"00000244"	"90"	"3325"	"0"	"3325"	"0"	"c.3325C>T"	"r.(?)"	"p.(Arg1109Ter)"	""
"0000272721"	"00000244"	"50"	"3503"	"0"	"3503"	"0"	"c.3503G>A"	"r.(?)"	"p.(Arg1168His)"	""
"0000272722"	"00000244"	"50"	"351"	"0"	"351"	"0"	"c.351T>G"	"r.(?)"	"p.(Ser117Arg)"	""
"0000272723"	"00000244"	"30"	"355"	"0"	"355"	"0"	"c.355T>C"	"r.(?)"	"p.(Leu119=)"	""
"0000272725"	"00000244"	"90"	"3771"	"1"	"3771"	"1"	"c.3771+1G>C"	"r.spl?"	"p.?"	""
"0000272726"	"00000244"	"30"	"4081"	"0"	"4081"	"0"	"c.4081C>T"	"r.(?)"	"p.(Leu1361=)"	""
"0000272727"	"00000244"	"30"	"4348"	"0"	"4348"	"0"	"c.4348C>T"	"r.(?)"	"p.(Leu1450=)"	""
"0000272728"	"00000244"	"30"	"4460"	"0"	"4460"	"0"	"c.4460G>A"	"r.(?)"	"p.(Arg1487His)"	""
"0000272729"	"00000244"	"50"	"4510"	"0"	"4510"	"0"	"c.4510C>G"	"r.(?)"	"p.(Leu1504Val)"	""
"0000272730"	"00000244"	"30"	"541"	"-20"	"541"	"-20"	"c.541-20T>G"	"r.(=)"	"p.(=)"	""
"0000272731"	"00000244"	"30"	"541"	"-5"	"541"	"-5"	"c.541-5G>A"	"r.spl?"	"p.?"	""
"0000272732"	"00000244"	"50"	"590"	"0"	"590"	"0"	"c.590T>C"	"r.(?)"	"p.(Phe197Ser)"	""
"0000272733"	"00000244"	"10"	"685"	"0"	"687"	"0"	"c.685_687del"	"r.(?)"	"p.(Glu229del)"	""
"0000272734"	"00000244"	"10"	"777"	"0"	"777"	"0"	"c.777C>T"	"r.(?)"	"p.(His259=)"	""
"0000272735"	"00000244"	"30"	"786"	"0"	"786"	"0"	"c.786C>A"	"r.(?)"	"p.(Asp262Glu)"	""
"0000272737"	"00000244"	"30"	"922"	"0"	"922"	"0"	"c.922T>C"	"r.(?)"	"p.(Phe308Leu)"	""
"0000329913"	"00000244"	"30"	"2813"	"0"	"2813"	"0"	"c.2813T>C"	"r.(?)"	"p.(Met938Thr)"	""
"0000329914"	"00000244"	"50"	"2875"	"0"	"2875"	"0"	"c.2875del"	"r.(?)"	"p.(Glu959AsnfsTer3)"	""
"0000337286"	"00000244"	"10"	"3183"	"-8"	"3183"	"-8"	"c.3183-8T>C"	"r.(=)"	"p.(=)"	""
"0000337288"	"00000244"	"10"	"4884"	"0"	"4884"	"0"	"c.*21G>C"	"r.(=)"	"p.(=)"	""
"0000339490"	"00000244"	"10"	"3201"	"0"	"3201"	"0"	"c.3201G>A"	"r.(?)"	"p.(Ser1067=)"	""
"0000340966"	"00000244"	"10"	"156"	"0"	"156"	"0"	"c.156C>T"	"r.(?)"	"p.(Ser52=)"	""
"0000341071"	"00000244"	"50"	"3771"	"0"	"3771"	"0"	"c.3771G>A"	"r.(?)"	"p.(Lys1257=)"	""
"0000343474"	"00000244"	"70"	"2728"	"0"	"2728"	"0"	"c.2728C>T"	"r.(?)"	"p.(Arg910Ter)"	""
"0000344015"	"00000244"	"50"	"745"	"0"	"745"	"0"	"c.745G>A"	"r.(?)"	"p.(Asp249Asn)"	""
"0000344499"	"00000244"	"50"	"3288"	"0"	"3288"	"0"	"c.3288G>C"	"r.(?)"	"p.(Gln1096His)"	""
"0000344909"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(?)"	"p.(Gln588Ter)"	""
"0000345089"	"00000244"	"90"	"3667"	"0"	"3667"	"0"	"c.3667G>T"	"r.(?)"	"p.(Glu1223Ter)"	""
"0000345273"	"00000244"	"90"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Glu238Ter)"	""
"0000345713"	"00000244"	"70"	"4179"	"1"	"4179"	"1"	"c.4179+1del"	"r.spl?"	"p.?"	""
"0000346384"	"00000244"	"50"	"4751"	"0"	"4751"	"0"	"c.4751A>C"	"r.(?)"	"p.(His1584Pro)"	""
"0000346593"	"00000244"	"50"	"4724"	"0"	"4724"	"0"	"c.4724T>C"	"r.(?)"	"p.(Ile1575Thr)"	""
"0000348140"	"00000244"	"70"	"3364"	"0"	"3364"	"0"	"c.3364C>T"	"r.(?)"	"p.(Pro1122Ser)"	""
"0000348151"	"00000244"	"50"	"3566"	"0"	"3566"	"0"	"c.3566C>T"	"r.(?)"	"p.(Pro1189Leu)"	""
"0000349676"	"00000244"	"90"	"3544"	"0"	"3544"	"0"	"c.3544T>C"	"r.(?)"	"p.(Trp1182Arg)"	""
"0000350113"	"00000244"	"50"	"1451"	"0"	"1451"	"0"	"c.1451A>G"	"r.(?)"	"p.(Tyr484Cys)"	""
"0000350945"	"00000244"	"10"	"124"	"-6"	"124"	"-6"	"c.124-6C>T"	"r.(=)"	"p.(=)"	""
"0000350946"	"00000244"	"10"	"2003"	"19"	"2003"	"19"	"c.2003+19C>T"	"r.(=)"	"p.(=)"	""
"0000459811"	"00000244"	"90"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(?)"	"p.(Lys1029Argfs*3)"	""
"0000459812"	"00000244"	"90"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(?)"	"p.(Lys1029Argfs*3)"	""
"0000459813"	"00000244"	"90"	"4531"	"0"	"4531"	"0"	"c.4531T>C"	"r.(?)"	"p.(Trp1511Arg)"	""
"0000459814"	"00000244"	"90"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(?)"	"p.(Lys1029Argfs*3)"	""
"0000459815"	"00000244"	"90"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(?)"	"p.(Lys1029Argfs*3)"	""
"0000459816"	"00000244"	"90"	"4531"	"0"	"4531"	"0"	"c.4531T>C"	"r.(?)"	"p.(Trp1511Arg)"	""
"0000459829"	"00000244"	"90"	"2161"	"0"	"2161"	"0"	"c.2161C>T"	"r.(?)"	"p.(Pro721Ser)"	"18"
"0000459830"	"00000244"	"90"	"3341"	"0"	"3341"	"0"	"c.3341C>T"	"r.(?)"	"p.(Thr1114Met)"	"27"
"0000459831"	"00000244"	"90"	"3399"	"-1"	"3975"	"1"	"c.(3398+1_3399-1)_(3975+1_3976-1)del"	"r.(?)"	"p.?"	"27i_31i"
"0000459832"	"00000244"	"90"	"3399"	"-1"	"3975"	"1"	"c.(3398+1_3399-1)_(3975+1_3976-1)del"	"r.(?)"	"p.?"	"27i_31i"
"0000459833"	"00000244"	"90"	"3399"	"-1"	"3975"	"1"	"c.(3398+1_3399-1)_(3975+1_3976-1)del"	"r.(?)"	"p.?"	"27i_31i"
"0000459834"	"00000244"	"90"	"3399"	"-1"	"3975"	"1"	"c.(3398+1_3399-1)_(3975+1_3976-1)del"	"r.(?)"	"p.?"	"27i_31i"
"0000459835"	"00000244"	"90"	"517"	"0"	"517"	"0"	"c.517C>T"	"r.(?)"	"p.(Arg173*)"	"8"
"0000459836"	"00000244"	"90"	"3399"	"-3"	"3399"	"-3"	"c.3399-3C>A"	"r.spl?"	"p.?"	"27i"
"0000459837"	"00000244"	"90"	"3584"	"0"	"3584"	"0"	"c.3584del"	"r.(?)"	"p.(Phe1195Serfs*11)"	"29"
"0000459838"	"00000244"	"90"	"3584"	"0"	"3584"	"0"	"c.3584del"	"r.(?)"	"p.(Phe1195Serfs*11)"	"29"
"0000459839"	"00000244"	"90"	"3584"	"0"	"3584"	"0"	"c.3584del"	"r.(?)"	"p.(Phe1195Serfs*11)"	"29"
"0000459840"	"00000244"	"90"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(?)"	"p.(Lys1029Argfs*3)"	"25"
"0000459841"	"00000244"	"90"	"3145"	"0"	"3145"	"0"	"c.3145C>T"	"r.(?)"	"p.(Arg1049*)"	"25"
"0000459842"	"00000244"	"90"	"3145"	"0"	"3145"	"0"	"c.3145C>T"	"r.(?)"	"p.(Arg1049*)"	"25"
"0000459843"	"00000244"	"90"	"3522"	"0"	"3523"	"0"	"c.3522_3523insTG"	"r.(?)"	"p.(His1175Cysfs*13)"	"29"
"0000459844"	"00000244"	"90"	"3522"	"0"	"3523"	"0"	"c.3522_3523insTG"	"r.(?)"	"p.(His1175Cysfs*13)"	"29"
"0000459845"	"00000244"	"90"	"1538"	"0"	"1538"	"0"	"c.1538G>A"	"r.(?)"	"p.(Trp513*)"	"15"
"0000459846"	"00000244"	"90"	"2773"	"0"	"2773"	"0"	"c.2773C>T"	"r.(?)"	"p.(Arg925*)"	"22"
"0000459847"	"00000244"	"90"	"2773"	"0"	"2773"	"0"	"c.2773C>T"	"r.(?)"	"p.(Arg925*)"	"22"
"0000459848"	"00000244"	"90"	"2773"	"0"	"2773"	"0"	"c.2773C>T"	"r.(?)"	"p.(Arg925*)"	"22"
"0000459849"	"00000244"	"90"	"2773"	"0"	"2773"	"0"	"c.2773C>T"	"r.(?)"	"p.(Arg925*)"	"22"
"0000459850"	"00000244"	"90"	"1339"	"0"	"1339"	"0"	"c.1339del"	"r.(?)"	"p.(Ala447Argfs*11)"	"13"
"0000459851"	"00000244"	"90"	"834"	"0"	"834"	"0"	"c.834del"	"r.(?)"	"p.(Leu279Cysfs*40)"	"10"
"0000459852"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	"37"
"0000459853"	"00000244"	"90"	"4496"	"2"	"4496"	"2"	"c.4496+2T>A"	"r.spl"	"p.?"	"36i"
"0000459854"	"00000244"	"90"	"4496"	"2"	"4496"	"2"	"c.4496+2T>A"	"r.spl"	"p.?"	"36i"
"0000459855"	"00000244"	"90"	"4179"	"1"	"4179"	"1"	"c.4179+1del"	"r.spl"	"p.?"	"33i"
"0000459856"	"00000244"	"90"	"2486"	"1"	"2486"	"1"	"c.2486+1G>C"	"r.spl"	"p.?"	"20i"
"0000459857"	"00000244"	"90"	"2486"	"1"	"2486"	"1"	"c.2486+1G>C"	"r.spl"	"p.?"	"20i"
"0000459858"	"00000244"	"90"	"2486"	"1"	"2486"	"1"	"c.2486+1G>C"	"r.spl"	"p.?"	"20i"
"0000459859"	"00000244"	"90"	"2486"	"1"	"2486"	"1"	"c.2486+1G>C"	"r.spl"	"p.?"	"20i"
"0000521838"	"00000244"	"30"	"247"	"419"	"247"	"419"	"c.247+419C>T"	"r.(=)"	"p.(=)"	""
"0000521839"	"00000244"	"30"	"247"	"452"	"247"	"452"	"c.247+452C>T"	"r.(=)"	"p.(=)"	""
"0000521840"	"00000244"	"10"	"247"	"453"	"247"	"453"	"c.247+453G>A"	"r.(=)"	"p.(=)"	""
"0000521841"	"00000244"	"50"	"280"	"0"	"280"	"0"	"c.280G>C"	"r.(?)"	"p.(Gly94Arg)"	""
"0000521842"	"00000244"	"30"	"351"	"0"	"351"	"0"	"c.351T>G"	"r.(?)"	"p.(Ser117Arg)"	""
"0000521843"	"00000244"	"10"	"432"	"0"	"432"	"0"	"c.432C>G"	"r.(?)"	"p.(Gly144=)"	""
"0000521845"	"00000244"	"30"	"762"	"0"	"762"	"0"	"c.762A>G"	"r.(?)"	"p.(Leu254=)"	""
"0000521846"	"00000244"	"30"	"880"	"3"	"880"	"3"	"c.880+3dup"	"r.spl?"	"p.?"	""
"0000521847"	"00000244"	"90"	"1017"	"1"	"1017"	"1"	"c.1017+1G>C"	"r.spl?"	"p.?"	""
"0000521848"	"00000244"	"10"	"1041"	"0"	"1041"	"0"	"c.1041C>T"	"r.(?)"	"p.(Asp347=)"	""
"0000521856"	"00000244"	"30"	"1359"	"6"	"1359"	"6"	"c.1359+6T>C"	"r.(=)"	"p.(=)"	""
"0000521857"	"00000244"	"10"	"1392"	"0"	"1392"	"0"	"c.1392C>G"	"r.(?)"	"p.(Gly464=)"	""
"0000521858"	"00000244"	"30"	"1484"	"0"	"1484"	"0"	"c.1484G>A"	"r.(?)"	"p.(Arg495His)"	""
"0000521859"	"00000244"	"30"	"1519"	"0"	"1519"	"0"	"c.1519A>G"	"r.(?)"	"p.(Lys507Glu)"	""
"0000521861"	"00000244"	"30"	"1766"	"0"	"1766"	"0"	"c.1766G>A"	"r.(?)"	"p.(Arg589Lys)"	""
"0000521863"	"00000244"	"10"	"1821"	"0"	"1821"	"0"	"c.1821T>C"	"r.(?)"	"p.(Ile607=)"	""
"0000521864"	"00000244"	"30"	"1837"	"0"	"1837"	"0"	"c.1837G>A"	"r.(?)"	"p.(Glu613Lys)"	""
"0000521868"	"00000244"	"50"	"2056"	"0"	"2056"	"0"	"c.2056G>A"	"r.(?)"	"p.(Val686Met)"	""
"0000521869"	"00000244"	"50"	"2056"	"0"	"2056"	"0"	"c.2056G>A"	"r.(?)"	"p.(Val686Met)"	""
"0000521870"	"00000244"	"10"	"2161"	"0"	"2161"	"0"	"c.2161C>T"	"r.(?)"	"p.(Pro721Ser)"	""
"0000521871"	"00000244"	"50"	"2161"	"0"	"2161"	"0"	"c.2161C>T"	"r.(?)"	"p.(Pro721Ser)"	""
"0000521872"	"00000244"	"30"	"2161"	"0"	"2161"	"0"	"c.2161C>T"	"r.(?)"	"p.(Pro721Ser)"	""
"0000521885"	"00000244"	"50"	"2387"	"0"	"2387"	"0"	"c.2387T>G"	"r.(?)"	"p.(Met796Arg)"	""
"0000521886"	"00000244"	"50"	"2597"	"0"	"2597"	"0"	"c.2597A>G"	"r.(?)"	"p.(Asn866Ser)"	""
"0000521887"	"00000244"	"30"	"2597"	"0"	"2597"	"0"	"c.2597A>G"	"r.(?)"	"p.(Asn866Ser)"	""
"0000521888"	"00000244"	"30"	"2597"	"0"	"2597"	"0"	"c.2597A>G"	"r.(?)"	"p.(Asn866Ser)"	""
"0000521889"	"00000244"	"50"	"2624"	"0"	"2624"	"0"	"c.2624C>T"	"r.(?)"	"p.(Ser875Leu)"	""
"0000521890"	"00000244"	"50"	"2885"	"0"	"2885"	"0"	"c.2885A>G"	"r.(?)"	"p.(Asp962Gly)"	""
"0000521891"	"00000244"	"10"	"2922"	"10"	"2922"	"10"	"c.2922+10dup"	"r.(=)"	"p.(=)"	""
"0000521895"	"00000244"	"10"	"3183"	"-8"	"3183"	"-8"	"c.3183-8T>C"	"r.(=)"	"p.(=)"	""
"0000521896"	"00000244"	"10"	"3183"	"-8"	"3183"	"-8"	"c.3183-8T>C"	"r.(=)"	"p.(=)"	""
"0000521897"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097PhefsTer2)"	""
"0000521898"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097PhefsTer2)"	""
"0000521899"	"00000244"	"50"	"3734"	"0"	"3734"	"0"	"c.3734A>G"	"r.(?)"	"p.(Glu1245Gly)"	""
"0000521900"	"00000244"	"90"	"3744"	"0"	"3747"	"0"	"c.3744_3747dup"	"r.(?)"	"p.(Pro1250GlyfsTer11)"	""
"0000521901"	"00000244"	"30"	"4066"	"-5"	"4066"	"-5"	"c.4066-5G>T"	"r.spl?"	"p.?"	""
"0000521903"	"00000244"	"50"	"4202"	"0"	"4202"	"0"	"c.4202C>G"	"r.(?)"	"p.(Thr1401Ser)"	""
"0000521905"	"00000244"	"30"	"4296"	"0"	"4296"	"0"	"c.4296T>C"	"r.(?)"	"p.(Cys1432=)"	""
"0000521907"	"00000244"	"50"	"4384"	"0"	"4384"	"0"	"c.4384T>C"	"r.(?)"	"p.(Trp1462Arg)"	""
"0000521908"	"00000244"	"70"	"4384"	"0"	"4384"	"0"	"c.4384T>C"	"r.(?)"	"p.(Trp1462Arg)"	""
"0000521909"	"00000244"	"70"	"4437"	"1"	"4437"	"1"	"c.4437+1G>A"	"r.spl?"	"p.?"	""
"0000521910"	"00000244"	"30"	"4438"	"-9"	"4438"	"-9"	"c.4438-9C>A"	"r.(=)"	"p.(=)"	""
"0000521911"	"00000244"	"50"	"4543"	"0"	"4543"	"0"	"c.4543C>A"	"r.(?)"	"p.(His1515Asn)"	""
"0000521912"	"00000244"	"50"	"4553"	"0"	"4553"	"0"	"c.4553G>A"	"r.(?)"	"p.(Arg1518Gln)"	""
"0000521913"	"00000244"	"10"	"4675"	"-89"	"4675"	"-88"	"c.4675-89_4675-88insTT"	"r.(=)"	"p.(=)"	""
"0000521914"	"00000244"	"10"	"4675"	"-85"	"4675"	"-83"	"c.4675-85_4675-83dup"	"r.(=)"	"p.(=)"	""
"0000521915"	"00000244"	"50"	"4688"	"0"	"4688"	"0"	"c.4688C>T"	"r.(?)"	"p.(Pro1563Leu)"	""
"0000604353"	"00000244"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Glu312Lys)"	"10"
"0000604354"	"00000244"	"70"	"2803"	"0"	"2803"	"0"	"c.2803C>T"	"r.(?)"	"p.(Arg935*)"	"21"
"0000609093"	"00000244"	"30"	"832"	"0"	"832"	"0"	"c.832C>T"	"r.(?)"	"p.(Arg278Trp)"	""
"0000609094"	"00000244"	"50"	"1799"	"0"	"1799"	"0"	"c.1799A>C"	"r.(?)"	"p.(Glu600Ala)"	""
"0000609095"	"00000244"	"10"	"1881"	"0"	"1881"	"0"	"c.1881G>A"	"r.(?)"	"p.(Arg627=)"	""
"0000609099"	"00000244"	"30"	"3509"	"0"	"3509"	"0"	"c.3509G>A"	"r.(?)"	"p.(Arg1170Lys)"	""
"0000609100"	"00000244"	"30"	"4518"	"0"	"4518"	"0"	"c.4518A>G"	"r.(?)"	"p.(Glu1506=)"	""
"0000621367"	"00000244"	"30"	"247"	"409"	"247"	"409"	"c.247+409C>T"	"r.(=)"	"p.(=)"	""
"0000621368"	"00000244"	"90"	"1017"	"1"	"1017"	"1"	"c.1017+1G>A"	"r.spl?"	"p.?"	""
"0000647202"	"00000244"	"90"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(?)"	"p.(Lys1029Argfs*3)"	""
"0000647203"	"00000244"	"50"	"3468"	"0"	"3468"	"0"	"c.3468T>G"	"r.(?)"	"p.(Phe1156Leu)"	""
"0000651418"	"00000244"	"50"	"351"	"0"	"351"	"0"	"c.351T>G"	"r.(?)"	"p.(Ser117Arg)"	""
"0000651419"	"00000244"	"50"	"501"	"0"	"501"	"0"	"c.501G>T"	"r.(?)"	"p.(Lys167Asn)"	""
"0000651420"	"00000244"	"30"	"541"	"-20"	"541"	"-20"	"c.541-20T>G"	"r.(=)"	"p.(=)"	""
"0000651421"	"00000244"	"30"	"777"	"0"	"777"	"0"	"c.777C>T"	"r.(=)"	"p.(=)"	""
"0000651422"	"00000244"	"30"	"1519"	"0"	"1519"	"0"	"c.1519A>G"	"r.(?)"	"p.(Lys507Glu)"	""
"0000651425"	"00000244"	"30"	"4238"	"0"	"4238"	"0"	"c.4238G>A"	"r.(?)"	"p.(Cys1413Tyr)"	""
"0000651426"	"00000244"	"50"	"4553"	"0"	"4553"	"0"	"c.4553G>A"	"r.(?)"	"p.(Arg1518Gln)"	""
"0000651427"	"00000244"	"50"	"4852"	"0"	"4852"	"0"	"c.4852C>T"	"r.(?)"	"p.(Arg1618Cys)"	""
"0000653168"	"00000244"	"70"	"3145"	"0"	"3145"	"0"	"c.3145C>T"	"r.(?)"	"p.(Arg1049*)"	""
"0000655111"	"00000244"	"50"	"247"	"374"	"247"	"374"	"c.247+374G>C"	"r.(=)"	"p.(=)"	""
"0000655112"	"00000244"	"30"	"287"	"0"	"287"	"0"	"c.287C>G"	"r.(?)"	"p.(Ala96Gly)"	""
"0000655114"	"00000244"	"30"	"3480"	"0"	"3480"	"0"	"c.3480G>T"	"r.(?)"	"p.(Leu1160=)"	""
"0000660682"	"00000244"	"50"	"4786"	"0"	"4786"	"0"	"c.4786G>A"	"r.(?)"	"p.(Ala1596Thr)"	""
"0000669803"	"00000244"	"30"	"777"	"0"	"777"	"0"	"c.777C>T"	"r.(=)"	"p.(=)"	""
"0000677212"	"00000244"	"50"	"1256"	"0"	"1256"	"0"	"c.1256C>T"	"r.(?)"	"p.(Pro419Leu)"	""
"0000677213"	"00000244"	"50"	"1483"	"0"	"1483"	"0"	"c.1483C>T"	"r.(?)"	"p.(Arg495Cys)"	""
"0000677215"	"00000244"	"50"	"2534"	"0"	"2534"	"0"	"c.2534T>G"	"r.(?)"	"p.(Leu845Arg)"	""
"0000677216"	"00000244"	"30"	"3261"	"0"	"3261"	"0"	"c.3261C>A"	"r.(?)"	"p.(Thr1087=)"	""
"0000677217"	"00000244"	"70"	"3544"	"0"	"3544"	"0"	"c.3544T>C"	"r.(?)"	"p.(Trp1182Arg)"	""
"0000677218"	"00000244"	"50"	"3976"	"-3"	"3976"	"-3"	"c.3976-3C>A"	"r.spl?"	"p.?"	""
"0000677219"	"00000244"	"70"	"4582"	"0"	"4582"	"0"	"c.4582C>T"	"r.(?)"	"p.(Arg1528Cys)"	""
"0000689245"	"00000244"	"30"	"369"	"0"	"369"	"0"	"c.369C>A"	"r.(?)"	"p.(Ile123=)"	""
"0000689249"	"00000244"	"50"	"3871"	"0"	"3871"	"0"	"c.3871A>G"	"r.(?)"	"p.(Ile1291Val)"	""
"0000689250"	"00000244"	"30"	"4005"	"0"	"4005"	"0"	"c.4005T>A"	"r.(?)"	"p.(Ile1335=)"	""
"0000712650"	"00000244"	"50"	"1691"	"0"	"1691"	"0"	"c.1691C>T"	"r.(?)"	"p.(Thr564Met)"	""
"0000719783"	"00000244"	"30"	"247"	"452"	"247"	"452"	"c.247+452C>T"	"r.(=)"	"p.(=)"	""
"0000719784"	"00000244"	"30"	"563"	"0"	"563"	"0"	"c.563C>T"	"r.(?)"	"p.(Ala188Val)"	""
"0000719785"	"00000244"	"30"	"1881"	"0"	"1881"	"0"	"c.1881G>A"	"r.(?)"	"p.(Arg627=)"	""
"0000719786"	"00000244"	"30"	"1978"	"0"	"1978"	"0"	"c.1978G>C"	"r.(?)"	"p.(Val660Leu)"	""
"0000719787"	"00000244"	"30"	"2050"	"0"	"2050"	"0"	"c.2050T>A"	"r.(?)"	"p.(Leu684Ile)"	""
"0000719797"	"00000244"	"30"	"2813"	"0"	"2813"	"0"	"c.2813T>C"	"r.(?)"	"p.(Met938Thr)"	""
"0000719799"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097PhefsTer2)"	""
"0000719800"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097PhefsTer2)"	""
"0000719801"	"00000244"	"50"	"3865"	"0"	"3865"	"0"	"c.3865A>G"	"r.(?)"	"p.(Thr1289Ala)"	""
"0000719802"	"00000244"	"50"	"4577"	"0"	"4577"	"0"	"c.4577C>A"	"r.(?)"	"p.(Thr1526Asn)"	""
"0000719803"	"00000244"	"50"	"4577"	"0"	"4577"	"0"	"c.4577C>A"	"r.(?)"	"p.(Thr1526Asn)"	""
"0000729847"	"00000244"	"90"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(?)"	"p.(Lys1029Argfs*3)"	""
"0000729848"	"00000244"	"90"	"3364"	"0"	"3364"	"0"	"c.3364C>T"	"r.(?)"	"p.(Pro1122Ser)"	""
"0000729849"	"00000244"	"90"	"3364"	"0"	"3364"	"0"	"c.3364C>T"	"r.(?)"	"p.(Pro1122Ser)"	""
"0000736822"	"00000244"	"50"	"685"	"0"	"687"	"0"	"c.685_687del"	"r.(?)"	"p.(Glu229del)"	""
"0000765488"	"00000244"	"50"	"332"	"0"	"332"	"0"	"c.332C>T"	"r.(?)"	"p.(Ala111Val)"	""
"0000765495"	"00000244"	"50"	"332"	"0"	"332"	"0"	"c.332C>T"	"r.(?)"	"p.(Ala111Val)"	""
"0000765503"	"00000244"	"70"	"3242"	"0"	"3242"	"0"	"c.3242C>T"	"r.(?)"	"p.(Pro1081Leu)"	""
"0000765680"	"00000244"	"90"	"3376"	"0"	"3376"	"0"	"c.3376G>A"	"r.(?)"	"p.(Glu1126Lys)"	""
"0000765681"	"00000244"	"90"	"3376"	"0"	"3376"	"0"	"c.3376G>A"	"r.(?)"	"p.(Glu1126Lys)"	""
"0000765682"	"00000244"	"90"	"3376"	"0"	"3376"	"0"	"c.3376G>A"	"r.(?)"	"p.(Glu1126Lys)"	""
"0000765683"	"00000244"	"90"	"3376"	"0"	"3376"	"0"	"c.3376G>A"	"r.(?)"	"p.(Glu1126Lys)"	""
"0000765684"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000765685"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000765686"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000765687"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000765688"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000765689"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000765690"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000765721"	"00000244"	"90"	"4702"	"0"	"4702"	"0"	"c.4702T>C"	"r.(?)"	"p.(Tyr1568His)"	""
"0000765722"	"00000244"	"90"	"4559"	"0"	"4559"	"0"	"c.4559A>G"	"r.(?)"	"p.(Asn1520Ser)"	""
"0000765723"	"00000244"	"90"	"4559"	"0"	"4559"	"0"	"c.4559A>G"	"r.(?)"	"p.(Asn1520Ser)"	""
"0000765724"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000765725"	"00000244"	"90"	"3544"	"0"	"3544"	"0"	"c.3544T>C"	"r.(?)"	"p.(Trp1182Arg)"	""
"0000765726"	"00000244"	"90"	"3376"	"0"	"3376"	"0"	"c.3376G>A"	"r.(?)"	"p.(Glu1126Lys)"	""
"0000765727"	"00000244"	"90"	"3376"	"0"	"3376"	"0"	"c.3376G>A"	"r.(?)"	"p.(Glu1126Lys)"	""
"0000765728"	"00000244"	"90"	"3376"	"0"	"3376"	"0"	"c.3376G>A"	"r.(?)"	"p.(Glu1126Lys)"	""
"0000765729"	"00000244"	"90"	"3376"	"0"	"3376"	"0"	"c.3376G>A"	"r.(?)"	"p.(Glu1126Lys)"	""
"0000765730"	"00000244"	"90"	"3450"	"0"	"3452"	"0"	"c.3450_3452del"	"r.(?)"	"p.(Val1151del)"	""
"0000765731"	"00000244"	"90"	"2181"	"1"	"2181"	"1"	"c.2181+1G>A"	"r.spl"	"p.?"	""
"0000783393"	"00000244"	"90"	"3364"	"0"	"3364"	"0"	"c.3364C>T"	"r.(?)"	"p.(Pro1122Ser)"	""
"0000783394"	"00000244"	"90"	"2848"	"0"	"2848"	"0"	"c.2848C>T"	"r.(?)"	"p.(Arg950*)"	""
"0000783395"	"00000244"	"90"	"4289"	"0"	"4289"	"0"	"c.4289T>C"	"r.(?)"	"p.(Val1430Ala)"	""
"0000783396"	"00000244"	"90"	"4289"	"0"	"4289"	"0"	"c.4289T>C"	"r.(?)"	"p.(Val1430Ala)"	""
"0000783397"	"00000244"	"90"	"3288"	"0"	"3288"	"0"	"c.3288G>C"	"r.(?)"	"p.(Gln1096His)"	""
"0000783398"	"00000244"	"90"	"3364"	"0"	"3364"	"0"	"c.3364C>T"	"r.(?)"	"p.(Pro1122Ser)"	""
"0000783399"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097Phefs*2)"	""
"0000783400"	"00000244"	"90"	"4582"	"0"	"4582"	"0"	"c.4582C>T"	"r.(?)"	"p.(Arg1528Cys)"	""
"0000783401"	"00000244"	"90"	"4582"	"0"	"4582"	"0"	"c.4582C>T"	"r.(?)"	"p.(Arg1528Cys)"	""
"0000783402"	"00000244"	"90"	"3892"	"0"	"3893"	"0"	"c.3892_3893del"	"r.(?)"	"p.(Val1298Phefs*17)"	""
"0000783403"	"00000244"	"90"	"3850"	"0"	"3850"	"0"	"c.3850C>T"	"r.(?)"	"p.(Arg1284Cys)"	""
"0000783404"	"00000244"	"90"	"3452"	"0"	"3452"	"0"	"c.3452T>C"	"r.(?)"	"p.(Val1151Ala)"	""
"0000783405"	"00000244"	"90"	"3452"	"0"	"3452"	"0"	"c.3452T>C"	"r.(?)"	"p.(Val1151Ala)"	""
"0000783406"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097Phefs*2)"	""
"0000783407"	"00000244"	"90"	"4179"	"1"	"4179"	"1"	"c.4179+1del"	"r.spl?"	"p.?"	""
"0000783408"	"00000244"	"90"	"3744"	"0"	"3747"	"0"	"c.3744_3747dup"	"r.(?)"	"p.(Pro1250Glyfs*11)"	""
"0000783409"	"00000244"	"90"	"3744"	"0"	"3747"	"0"	"c.3744_3747dup"	"r.(?)"	"p.(Pro1250Glyfs*11)"	""
"0000783410"	"00000244"	"90"	"3772"	"-1"	"3772"	"-1"	"c.3772-1G>T"	"r.spl?"	"p.?"	""
"0000783411"	"00000244"	"90"	"3134"	"0"	"3134"	"0"	"c.3134T>C"	"r.(?)"	"p.(Val1045Ala)"	""
"0000783412"	"00000244"	"90"	"3055"	"0"	"3055"	"0"	"c.3055C>T"	"r.(?)"	"p.(Arg1019*)"	""
"0000783413"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097Phefs*2)"	""
"0000783414"	"00000244"	"90"	"4741"	"0"	"4741"	"0"	"c.4741A>G"	"r.(?)"	"p.(Thr1581Ala)"	""
"0000783415"	"00000244"	"90"	"2999"	"0"	"2999"	"0"	"c.2999A>T"	"r.(?)"	"p.(Glu1000Val)"	""
"0000783416"	"00000244"	"90"	"2999"	"0"	"2999"	"0"	"c.2999A>T"	"r.(?)"	"p.(Glu1000Val)"	""
"0000783417"	"00000244"	"90"	"3364"	"0"	"3364"	"0"	"c.3364C>T"	"r.(?)"	"p.(Pro1122Ser)"	""
"0000783418"	"00000244"	"90"	"3364"	"0"	"3364"	"0"	"c.3364C>T"	"r.(?)"	"p.(Pro1122Ser)"	""
"0000783419"	"00000244"	"90"	"2624"	"0"	"2624"	"0"	"c.2624C>A"	"r.(?)"	"p.(Ser875*)"	""
"0000783420"	"00000244"	"90"	"4179"	"1"	"4179"	"1"	"c.4179+1del"	"r.spl?"	"p.?"	""
"0000783421"	"00000244"	"90"	"1017"	"1"	"1017"	"1"	"c.1017+1G>A"	"r.spl?"	"p.?"	""
"0000783422"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097Phefs*2)"	""
"0000783423"	"00000244"	"90"	"3347"	"0"	"3347"	"0"	"c.3347C>T"	"r.(?)"	"p.(Thr1116Met)"	""
"0000783424"	"00000244"	"90"	"3347"	"0"	"3347"	"0"	"c.3347C>T"	"r.(?)"	"p.(Thr1116Met)"	""
"0000783425"	"00000244"	"90"	"4844"	"0"	"4847"	"0"	"c.4844_4847del"	"r.(?)"	"p.(Ser1615Leufs*16)"	""
"0000783426"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000783427"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000783428"	"00000244"	"90"	"3596"	"0"	"3596"	"0"	"c.3596T>C"	"r.(?)"	"p.(Ile1199Thr)"	""
"0000783429"	"00000244"	"90"	"4226"	"0"	"4226"	"0"	"c.4226T>C"	"r.(?)"	"p.(Ile1409Thr)"	""
"0000783430"	"00000244"	"90"	"3774"	"0"	"3774"	"0"	"c.3774dup"	"r.(?)"	"p.(Glu1259*)"	""
"0000783431"	"00000244"	"90"	"3774"	"0"	"3774"	"0"	"c.3774dup"	"r.(?)"	"p.(Glu1259*)"	""
"0000783582"	"00000244"	"70"	"4844"	"0"	"4847"	"0"	"c.4844_4847del"	"r.(?)"	"p.(Ser1615Leufs*16)"	""
"0000783583"	"00000244"	"70"	"3975"	"4"	"3975"	"7"	"c.3975+4_3975+7del"	"r.spl?"	"p.?"	""
"0000783584"	"00000244"	"70"	"1558"	"0"	"1558"	"0"	"c.1558C>T"	"r.(?)"	"p.(Arg520*)"	""
"0000783645"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097Phefs*2)"	""
"0000783646"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097Phefs*2)"	""
"0000783647"	"00000244"	"90"	"3055"	"0"	"3055"	"0"	"c.3055C>T"	"r.(?)"	"p.(Arg1019*)"	""
"0000783648"	"00000244"	"90"	"4582"	"0"	"4582"	"0"	"c.4582C>T"	"r.(?)"	"p.(Arg1528Cys)"	""
"0000783649"	"00000244"	"90"	"1676"	"0"	"1676"	"0"	"c.1676T>C"	"r.(?)"	"p.(Leu559Pro)"	""
"0000783650"	"00000244"	"90"	"3134"	"0"	"3134"	"0"	"c.3134T>C"	"r.(?)"	"p.(Val1045Ala)"	""
"0000783651"	"00000244"	"90"	"1263"	"0"	"1264"	"0"	"c.1263_1264insGGCATGTTTTGGCAGCGA"	"r.(?)"	"p.(Phe421_Ser422insGlyMetPheTrpGlnArg)"	""
"0000783652"	"00000244"	"90"	"1263"	"0"	"1264"	"0"	"c.1263_1264insGGCATGTTTTGGCAGCGA"	"r.(?)"	"p.(Phe421_Ser422insGlyMetPheTrpGlnArg)"	""
"0000783653"	"00000244"	"90"	"3347"	"0"	"3347"	"0"	"c.3347C>T"	"r.(?)"	"p.(Thr1116Met)"	""
"0000783654"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000783655"	"00000244"	"90"	"3989"	"0"	"3989"	"0"	"c.3989G>A"	"r.(?)"	"p.(Arg1330Gln)"	""
"0000783656"	"00000244"	"90"	"3989"	"0"	"3989"	"0"	"c.3989G>A"	"r.(?)"	"p.(Arg1330Gln)"	""
"0000783657"	"00000244"	"90"	"4582"	"0"	"4582"	"0"	"c.4582C>T"	"r.(?)"	"p.(Arg1528Cys)"	""
"0000783658"	"00000244"	"90"	"1017"	"1"	"1017"	"1"	"c.1017+1G>A"	"r.spl?"	"p.?"	""
"0000783659"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000783660"	"00000244"	"90"	"3989"	"0"	"3989"	"0"	"c.3989G>A"	"r.(?)"	"p.(Arg1330Gln)"	""
"0000783661"	"00000244"	"90"	"3347"	"0"	"3347"	"0"	"c.3347C>T"	"r.(?)"	"p.(Thr1116Met)"	""
"0000783662"	"00000244"	"90"	"1503"	"0"	"1505"	"0"	"c.1503_1505del"	"r.(?)"	"p.(Lys501_Asp502delinsAsn)"	""
"0000783663"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000783664"	"00000244"	"90"	"4600"	"0"	"4600"	"0"	"c.4600T>G"	"r.(?)"	"p.(Leu1534Val)"	""
"0000783665"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000783666"	"00000244"	"90"	"2671"	"0"	"2671"	"0"	"c.2671G>A"	"r.(?)"	"p.(Glu891Lys)"	""
"0000783667"	"00000244"	"90"	"3341"	"0"	"3341"	"0"	"c.3341C>T"	"r.(?)"	"p.(Thr1114Met)"	""
"0000783668"	"00000244"	"90"	"3341"	"0"	"3341"	"0"	"c.3341C>T"	"r.(?)"	"p.(Thr1114Met)"	""
"0000783669"	"00000244"	"90"	"4491"	"0"	"4491"	"0"	"c.4491A>C"	"r.(?)"	"p.(Gln1497His)"	""
"0000783670"	"00000244"	"90"	"4582"	"0"	"4582"	"0"	"c.4582C>T"	"r.(?)"	"p.(Arg1528Cys)"	""
"0000783671"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000783754"	"00000244"	"70"	"3976"	"-3"	"3976"	"-3"	"c.3976-3C>A"	"r.spl?"	"p.?"	""
"0000783755"	"00000244"	"70"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000783756"	"00000244"	"70"	"3594"	"5"	"3594"	"5"	"c.3594+5G>A"	"r.spl?"	"p.?"	""
"0000785419"	"00000244"	"50"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097PhefsTer2)"	""
"0000785428"	"00000244"	"50"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000785436"	"00000244"	"50"	"949"	"0"	"949"	"0"	"c.949G>A"	"r.(?)"	"p.(Gly317Arg)"	""
"0000787224"	"00000244"	"50"	"1484"	"0"	"1484"	"0"	"c.1484G>A"	"r.(?)"	"p.(Arg495His)"	"15"
"0000787560"	"00000244"	"50"	"4431"	"0"	"4431"	"0"	"c.4431T>G"	"r.(?)"	"p.(Ser1477Arg)"	"35"
"0000787572"	"00000244"	"50"	"1598"	"0"	"1598"	"0"	"c.1598T>C"	"r.(?)"	"p.(Val533Ala)"	"15"
"0000788364"	"00000244"	"50"	"2708"	"0"	"2708"	"0"	"c.2708A>G"	"r.(?)"	"p.(Gln903Arg)"	"22"
"0000791747"	"00000244"	"70"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000791748"	"00000244"	"70"	"3452"	"0"	"3452"	"0"	"c.3452T>C"	"r.(?)"	"p.(Val1151Ala)"	""
"0000791749"	"00000244"	"70"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000791750"	"00000244"	"70"	"3145"	"0"	"3145"	"0"	"c.3145C>T"	"r.(?)"	"p.(Arg1049*)"	""
"0000791751"	"00000244"	"70"	"3289"	"-1"	"3289"	"-1"	"c.3289-1del"	"r.(?)"	"p.(?)"	""
"0000791752"	"00000244"	"70"	"3347"	"0"	"3347"	"0"	"c.3347C>T"	"r.(?)"	"p.(Thr1116Met)"	""
"0000791753"	"00000244"	"70"	"3744"	"0"	"3747"	"0"	"c.3744_3747dup"	"r.(?)"	"p.(Pro1250Glyfs*11)"	"30"
"0000791754"	"00000244"	"70"	"4600"	"0"	"4600"	"0"	"c.4600T>G"	"r.(?)"	"p.(Leu1534Val)"	""
"0000791755"	"00000244"	"70"	"3744"	"0"	"3747"	"0"	"c.3744_3747dup"	"r.(?)"	"p.(Pro1250Glyfs*11)"	"30"
"0000791756"	"00000244"	"70"	"3288"	"0"	"3288"	"0"	"c.3288G>C"	"r.(?)"	"p.(Gln1096His)"	""
"0000791835"	"00000244"	"70"	"3975"	"4"	"3975"	"7"	"c.3975+4_3975+7del"	"r.(?)"	"p.(?)"	""
"0000791836"	"00000244"	"70"	"248"	"-4"	"248"	"-3"	"c.248-4_248-3insAAGTTTT"	"r.spl?"	"p.(?)"	""
"0000791837"	"00000244"	"70"	"3289"	"-1"	"3289"	"-1"	"c.3289-1del"	"r.(?)"	"p.(?)"	""
"0000791838"	"00000244"	"70"	"3347"	"0"	"3347"	"0"	"c.3347C>T"	"r.(?)"	"p.(Thr1116Met)"	""
"0000791839"	"00000244"	"70"	"3851"	"0"	"3851"	"0"	"c.3851G>A"	"r.(?)"	"p.(Arg1284His)"	""
"0000791840"	"00000244"	"70"	"4741"	"0"	"4741"	"0"	"c.4741A>G"	"r.(?)"	"p.(Thr1581Ala)"	""
"0000791841"	"00000244"	"70"	"3989"	"0"	"3989"	"0"	"c.3989G>A"	"r.(?)"	"p.(Arg1330Gln)"	""
"0000791842"	"00000244"	"70"	"1017"	"1"	"1017"	"1"	"c.1017+1G>A"	"r.(?)"	"p.(?)"	""
"0000791843"	"00000244"	"70"	"3989"	"0"	"3989"	"0"	"c.3989G>A"	"r.(?)"	"p.(Arg1330Gln)"	""
"0000791844"	"00000244"	"70"	"3055"	"0"	"3055"	"0"	"c.3055C>T"	"r.(?)"	"p.(Arg1019*)"	""
"0000791975"	"00000244"	"90"	"1519"	"0"	"1519"	"0"	"c.1519A>G"	"r.(?)"	"p.(Lys507Glu)"	"15"
"0000791985"	"00000244"	"90"	"1519"	"0"	"1519"	"0"	"c.1519A>G"	"r.(?)"	"p.(Lys507Glu)"	"15"
"0000791987"	"00000244"	"90"	"517"	"0"	"517"	"0"	"c.517C>T"	"r.(?)"	"p.(Arg173*)"	"8"
"0000791988"	"00000244"	"90"	"1676"	"0"	"1676"	"0"	"c.1676T>C"	"r.(?)"	"p.(Leu559Pro)"	"16"
"0000791989"	"00000244"	"90"	"3544"	"0"	"3544"	"0"	"c.3544T>C"	"r.(?)"	"p.(Trp1182Arg)"	"29"
"0000791990"	"00000244"	"90"	"3774"	"0"	"3775"	"0"	"c.3774_3775insT"	"r.(?)"	"p.(Glu1259*)"	"31"
"0000791991"	"00000244"	"90"	"685"	"0"	"687"	"0"	"c.685_687delGAA"	"r.(?)"	"p.(Glu229del)"	"9"
"0000791992"	"00000244"	"90"	"3893"	"0"	"3893"	"0"	"c.3893T>A"	"r.(?)"	"p.(Val1298Asp)"	"31"
"0000792012"	"00000244"	"90"	"1519"	"0"	"1519"	"0"	"c.1519A>G"	"r.(?)"	"p.(Lys507Glu)"	"15"
"0000792013"	"00000244"	"90"	"2161"	"0"	"2161"	"0"	"c.2161C>T"	"r.(?)"	"p.(Pro721Ser)"	"18"
"0000792014"	"00000244"	"90"	"2161"	"0"	"2161"	"0"	"c.2161C>T"	"r.(?)"	"p.(Pro721Ser)"	"18"
"0000792015"	"00000244"	"90"	"2161"	"0"	"2161"	"0"	"c.2161C>T"	"r.(?)"	"p.(Pro721Ser)"	"18"
"0000792016"	"00000244"	"90"	"3056"	"0"	"3056"	"0"	"c.3056G>A"	"r.(?)"	"p.(Arg1019Gln)"	"25"
"0000794022"	"00000244"	"90"	"1017"	"1"	"1017"	"1"	"c.1017+1G>A"	"r.spl?"	"p.?"	"11i"
"0000794074"	"00000244"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Glu312Lys)"	""
"0000794075"	"00000244"	"70"	"2803"	"0"	"2803"	"0"	"c.2803C>T"	"r.(?)"	"p.(Arg935*)"	""
"0000801537"	"00000244"	"30"	"247"	"395"	"247"	"395"	"c.247+395G>A"	"r.(=)"	"p.(=)"	""
"0000801538"	"00000244"	"30"	"355"	"0"	"355"	"0"	"c.355T>C"	"r.(?)"	"p.(Leu119=)"	""
"0000801539"	"00000244"	"90"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Glu238Ter)"	""
"0000801540"	"00000244"	"50"	"974"	"0"	"974"	"0"	"c.974C>T"	"r.(?)"	"p.(Thr325Ile)"	""
"0000801542"	"00000244"	"90"	"1370"	"0"	"1370"	"0"	"c.1370T>A"	"r.(?)"	"p.(Leu457*)"	""
"0000801543"	"00000244"	"30"	"1978"	"0"	"1978"	"0"	"c.1978G>C"	"r.(?)"	"p.(Val660Leu)"	""
"0000801552"	"00000244"	"30"	"3480"	"0"	"3480"	"0"	"c.3480G>T"	"r.(?)"	"p.(Leu1160=)"	""
"0000801553"	"00000244"	"50"	"3514"	"0"	"3514"	"0"	"c.3514A>G"	"r.(?)"	"p.(Ser1172Gly)"	""
"0000801554"	"00000244"	"30"	"4296"	"0"	"4296"	"0"	"c.4296T>C"	"r.(?)"	"p.(Cys1432=)"	""
"0000801555"	"00000244"	"50"	"4340"	"0"	"4340"	"0"	"c.4340A>C"	"r.(?)"	"p.(Glu1447Ala)"	""
"0000814344"	"00000244"	"90"	"4582"	"0"	"4583"	"0"	"c.4582_4583del"	"r.(?)"	"p.(Arg1528Serfs*17)"	""
"0000814347"	"00000244"	"90"	"418"	"0"	"419"	"0"	"c.418_419ins[(6000_62000);GAAAGAATTGG]"	"r.?"	"p.?"	"7"
"0000817371"	"00000244"	"50"	"4489"	"0"	"4489"	"0"	"c.4489C>A"	"r.(?)"	"p.(Gln1497Lys)"	""
"0000817525"	"00000244"	"70"	"3364"	"0"	"3364"	"0"	"c.3364C>T"	"r.(?)"	"p.(Pro1122Ser)"	"27"
"0000817526"	"00000244"	"70"	"3364"	"0"	"3364"	"0"	"c.3364C>T"	"r.(?)"	"p.(Pro1122Ser)"	"27"
"0000817558"	"00000244"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(Arg1218*)"	""
"0000817559"	"00000244"	"50"	"4315"	"-6"	"4315"	"-4"	"c.4315-6_4315-4del"	"r.spl?"	"p.?"	"34i"
"0000817590"	"00000244"	"90"	"2803"	"0"	"2803"	"0"	"c.2803C>T"	"r.(?)"	"p.(Arg935*)"	"22"
"0000817591"	"00000244"	"90"	"3774"	"0"	"3774"	"0"	"c.3774dup"	"r.(?)"	"p.(Glu1259*)"	"31"
"0000817592"	"00000244"	"90"	"2875"	"0"	"2875"	"0"	"c.2875del"	"r.(?)"	"p.(Glu959Asnfs*3)"	"23"
"0000817593"	"00000244"	"90"	"2875"	"0"	"2875"	"0"	"c.2875del"	"r.(?)"	"p.(Glu959Asnfs*3)"	"23"
"0000818269"	"00000244"	"90"	"3288"	"0"	"3288"	"0"	"c.3288G>C"	"r.(?)"	"p.(Gln1096His)"	"26"
"0000818270"	"00000244"	"90"	"3055"	"0"	"3055"	"0"	"c.3055C>T"	"r.(?)"	"p.(Arg1019*)"	"25"
"0000818291"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097Phefs*2)"	"27"
"0000818292"	"00000244"	"90"	"3851"	"0"	"3851"	"0"	"c.3851G>A"	"r.(?)"	"p.(Arg1284His)"	"31"
"0000818315"	"00000244"	"90"	"248"	"-4"	"248"	"-3"	"c.248-4_248-3insAAGTTTT"	"r.spl?"	"p.?"	"5i"
"0000818316"	"00000244"	"90"	"3452"	"0"	"3452"	"0"	"c.3452T>C"	"r.(?)"	"p.(Val1151Ala)"	"28"
"0000818321"	"00000244"	"90"	"3347"	"0"	"3347"	"0"	"c.3347C>T"	"r.(?)"	"p.(Thr1116Met)"	"27"
"0000818322"	"00000244"	"90"	"4741"	"0"	"4741"	"0"	"c.4741A>G"	"r.(?)"	"p.(Thr1581Ala)"	"38"
"0000818374"	"00000244"	"90"	"4600"	"0"	"4600"	"0"	"c.4600T>G"	"r.(?)"	"p.(Leu1534Val)"	"37"
"0000818375"	"00000244"	"90"	"1017"	"1"	"1017"	"1"	"c.1017+1G>A"	"r.spl?"	"p.?"	"11i"
"0000818382"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	"37"
"0000818383"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097Phefs*2)"	"27"
"0000818384"	"00000244"	"90"	"3743"	"0"	"3746"	"0"	"c.3743_3746dup"	"r.(?)"	"p.(Pro1250Glyfs*11)"	"30"
"0000818385"	"00000244"	"90"	"3989"	"0"	"3989"	"0"	"c.3989G>A"	"r.(?)"	"p.(Arg1330Gln)"	"32"
"0000818386"	"00000244"	"90"	"3743"	"0"	"3746"	"0"	"c.3743_3746dup"	"r.(?)"	"p.(Pro1250Glyfs*11)"	"30"
"0000818387"	"00000244"	"90"	"3989"	"0"	"3989"	"0"	"c.3989G>A"	"r.(?)"	"p.(Arg1330Gln)"	"32"
"0000818401"	"00000244"	"50"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Glu312Lys)"	""
"0000818402"	"00000244"	"90"	"2803"	"0"	"2803"	"0"	"c.2803C>T"	"r.(?)"	"p.(Arg935*)"	""
"0000822185"	"00000244"	"50"	"2161"	"0"	"2161"	"0"	"c.2161C>T"	"r.(?)"	"p.(Pro721Ser)"	"18"
"0000828522"	"00000244"	"70"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000832703"	"00000244"	"70"	"4730"	"0"	"4731"	"0"	"c.4730_4731delinsTGTATA"	"r.(?)"	"p.(Ala1577Valfs*5)"	""
"0000832704"	"00000244"	"70"	"2774"	"0"	"2774"	"0"	"c.2774G>C"	"r.(?)"	"p.(Arg925Pro)"	""
"0000832708"	"00000244"	"70"	"4730"	"0"	"4731"	"0"	"c.4730_4731delinsTGTATA"	"r.(?)"	"p.(Ala1577Valfs*5)"	""
"0000832709"	"00000244"	"70"	"2774"	"0"	"2774"	"0"	"c.2774G>C"	"r.(?)"	"p.(Arg925Pro)"	""
"0000832711"	"00000244"	"70"	"4730"	"0"	"4731"	"0"	"c.4730_4731delinsTGTATA"	"r.(?)"	"p.(Ala1577Valfs*5)"	""
"0000832712"	"00000244"	"70"	"2774"	"0"	"2774"	"0"	"c.2774G>C"	"r.(?)"	"p.(Arg925Pro)"	""
"0000845932"	"00000244"	"70"	"4202"	"0"	"4202"	"0"	"c.4202C>G"	"r.(?)"	"p.(Thr1401Ser)"	""
"0000845933"	"00000244"	"70"	"4238"	"0"	"4238"	"0"	"c.4238G>A"	"r.(?)"	"p.(Cys1413Tyr)"	""
"0000850545"	"00000244"	"30"	"351"	"0"	"351"	"0"	"c.351T>G"	"r.(?)"	"p.(Ser117Arg)"	""
"0000850546"	"00000244"	"50"	"566"	"0"	"566"	"0"	"c.566A>G"	"r.(?)"	"p.(Glu189Gly)"	""
"0000850547"	"00000244"	"10"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.(?)"	"p.(Glu241Lys)"	""
"0000850548"	"00000244"	"30"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Leu279=)"	""
"0000850549"	"00000244"	"50"	"1451"	"0"	"1451"	"0"	"c.1451A>G"	"r.(?)"	"p.(Tyr484Cys)"	""
"0000850550"	"00000244"	"30"	"1766"	"0"	"1766"	"0"	"c.1766G>A"	"r.(?)"	"p.(Arg589Lys)"	""
"0000850551"	"00000244"	"30"	"1830"	"0"	"1830"	"0"	"c.1830G>A"	"r.(?)"	"p.(Pro610=)"	""
"0000850555"	"00000244"	"30"	"2182"	"-9"	"2182"	"-9"	"c.2182-9G>A"	"r.(=)"	"p.(=)"	""
"0000850556"	"00000244"	"50"	"4553"	"0"	"4553"	"0"	"c.4553G>A"	"r.(?)"	"p.(Arg1518Gln)"	""
"0000850557"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000859263"	"00000244"	"30"	"248"	"-15"	"248"	"-15"	"c.248-15G>A"	"r.(=)"	"p.(=)"	""
"0000859264"	"00000244"	"30"	"501"	"0"	"501"	"0"	"c.501G>T"	"r.(?)"	"p.(Lys167Asn)"	""
"0000859268"	"00000244"	"90"	"2182"	"-8"	"2182"	"-8"	"c.2182-8G>A"	"r.(=)"	"p.(=)"	""
"0000859270"	"00000244"	"30"	"4577"	"0"	"4577"	"0"	"c.4577C>T"	"r.(?)"	"p.(Thr1526Ile)"	""
"0000859271"	"00000244"	"30"	"4675"	"-15"	"4675"	"-15"	"c.4675-15G>A"	"r.(=)"	"p.(=)"	""
"0000874660"	"00000244"	"70"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(?)"	"p.(Lys1029Argfs*3)"	""
"0000879049"	"00000244"	"50"	""	"0"	""	"0"	"c.3522_3523_insTG"	"r.(?)"	"p.(His1175CysfsTer13)"	""
"0000879050"	"00000244"	"50"	"4496"	"2"	"4496"	"2"	"c.4496+2T>A"	"r.spl"	"p.?"	""
"0000886158"	"00000244"	"30"	"247"	"409"	"247"	"409"	"c.247+409C>T"	"r.(=)"	"p.(=)"	""
"0000886159"	"00000244"	"90"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Glu238Ter)"	""
"0000886160"	"00000244"	"30"	"880"	"3"	"880"	"3"	"c.880+3dup"	"r.spl?"	"p.?"	""
"0000886161"	"00000244"	"30"	"1797"	"0"	"1797"	"0"	"c.1797A>G"	"r.(?)"	"p.(Ala599=)"	""
"0000886162"	"00000244"	"30"	"2161"	"0"	"2161"	"0"	"c.2161C>T"	"r.(?)"	"p.(Pro721Ser)"	""
"0000886163"	"00000244"	"30"	"2161"	"0"	"2161"	"0"	"c.2161C>T"	"r.(?)"	"p.(Pro721Ser)"	""
"0000886171"	"00000244"	"30"	"2734"	"0"	"2734"	"0"	"c.2734A>G"	"r.(?)"	"p.(Arg912Gly)"	""
"0000886172"	"00000244"	"50"	"2945"	"0"	"2945"	"0"	"c.2945G>A"	"r.(?)"	"p.(Arg982His)"	""
"0000886174"	"00000244"	"50"	"3577"	"0"	"3577"	"0"	"c.3577A>G"	"r.(?)"	"p.(Ile1193Val)"	""
"0000886175"	"00000244"	"50"	"3640"	"0"	"3640"	"0"	"c.3640T>C"	"r.(?)"	"p.(Tyr1214His)"	""
"0000886176"	"00000244"	"50"	"4465"	"0"	"4465"	"0"	"c.4465G>C"	"r.(?)"	"p.(Asp1489His)"	""
"0000886177"	"00000244"	"50"	"4688"	"0"	"4688"	"0"	"c.4688C>T"	"r.(?)"	"p.(Pro1563Leu)"	""
"0000908887"	"00000244"	"50"	"438"	"1"	"438"	"1"	"c.438+1G>T"	"r.337_438del"	"p.Ser113_Glu146del"	""
"0000912073"	"00000244"	"30"	"922"	"0"	"922"	"0"	"c.922T>C"	"r.(?)"	"p.(Phe308Leu)"	""
"0000912074"	"00000244"	"90"	"2875"	"0"	"2875"	"0"	"c.2875del"	"r.(?)"	"p.(Glu959AsnfsTer3)"	""
"0000918110"	"00000244"	"90"	"3626"	"0"	"3626"	"0"	"c.3626C>T"	"r.(?)"	"p.(Pro1209Leu)"	"30"
"0000918166"	"00000244"	"70"	"3399"	"-11"	"3771"	"2118"	"c.3399-11_3771+2118del"	"r.?"	"p.?"	""
"0000924077"	"00000244"	"50"	"2482"	"0"	"2482"	"0"	"c.2482C>T"	"r.(?)"	"p.(Arg828Trp)"	""
"0000924078"	"00000244"	"50"	"4389"	"0"	"4389"	"0"	"c.4389A>T"	"r.(?)"	"p.(Lys1463Asn)"	""
"0000928874"	"00000244"	"50"	"1247"	"0"	"1247"	"0"	"c.1247C>T"	"r.(?)"	"p.(Thr416Ile)"	""
"0000928876"	"00000244"	"30"	"2475"	"0"	"2475"	"0"	"c.2475C>T"	"r.(?)"	"p.(Ile825=)"	""
"0000928877"	"00000244"	"50"	"3566"	"0"	"3566"	"0"	"c.3566C>T"	"r.(?)"	"p.(Pro1189Leu)"	""
"0000928878"	"00000244"	"70"	"3989"	"0"	"3989"	"0"	"c.3989G>A"	"r.(?)"	"p.(Arg1330Gln)"	""
"0000928879"	"00000244"	"70"	"4384"	"0"	"4384"	"0"	"c.4384T>C"	"r.(?)"	"p.(Trp1462Arg)"	""
"0000928880"	"00000244"	"50"	"4459"	"0"	"4459"	"0"	"c.4459C>T"	"r.(?)"	"p.(Arg1487Cys)"	""
"0000948273"	"00000244"	"30"	"247"	"409"	"247"	"409"	"c.247+409C>T"	"r.(=)"	"p.(=)"	""
"0000948277"	"00000244"	"30"	"2922"	"10"	"2922"	"10"	"c.2922+10dup"	"r.(=)"	"p.(=)"	""
"0000948279"	"00000244"	"30"	"3480"	"0"	"3480"	"0"	"c.3480G>T"	"r.(?)"	"p.(Leu1160=)"	""
"0000948280"	"00000244"	"30"	"3509"	"0"	"3509"	"0"	"c.3509G>A"	"r.(?)"	"p.(Arg1170Lys)"	""
"0000951825"	"00000244"	"90"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(?)"	"p.(Lys1029Argfs*3)"	""
"0000951826"	"00000244"	"90"	"4179"	"1"	"4179"	"1"	"c.4179+1del"	"r.spl"	"p.?"	""
"0000951827"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097Phefs*2)"	""
"0000951828"	"00000244"	"90"	"3341"	"0"	"3341"	"0"	"c.3341C>T"	"r.(?)"	"p.(Thr1114Met)"	""
"0000951829"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097Phefs*2)"	""
"0000951830"	"00000244"	"90"	"3975"	"4"	"3975"	"7"	"c.3975+4_3975+7del"	"r.spl?"	"p.?"	""
"0000951847"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.1761_1764del"	"p.Gln588GlyTer29"	"16"
"0000951848"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(1761_1764del)"	"p.(Gln588GlyTer29)"	"16"
"0000951849"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(1761_1764del)"	"p.(Gln588GlyTer29)"	"16"
"0000951850"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(1761_1764del)"	"p.(Gln588GlyTer29)"	"16"
"0000951851"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(1761_1764del)"	"p.(Gln588GlyTer29)"	"16"
"0000951852"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(1761_1764del)"	"p.(Gln588GlyTer29)"	"16"
"0000951853"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(1761_1764del)"	"p.(Gln588GlyTer29)"	"16"
"0000951854"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(1761_1764del)"	"p.(Gln588GlyTer29)"	"16"
"0000951855"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(1761_1764del)"	"p.(Gln588GlyTer29)"	"16"
"0000951856"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(1761_1764del)"	"p.(Gln588GlyTer29)"	"16"
"0000951857"	"00000244"	"90"	"1762"	"0"	"1762"	"0"	"c.1762C>T"	"r.(1761_1764del)"	"p.(Gln588GlyTer29)"	"16"
"0000959866"	"00000244"	"50"	"1231"	"0"	"1231"	"0"	"c.1231T>G"	"r.(?)"	"p.(Ser411Ala)"	""
"0000959939"	"00000244"	"50"	"1231"	"0"	"1231"	"0"	"c.1231T>G"	"r.(?)"	"p.(Ser411Ala)"	""
"0000963036"	"00000244"	"30"	"541"	"-5"	"541"	"-5"	"c.541-5G>A"	"r.spl?"	"p.?"	""
"0000963040"	"00000244"	"30"	"1821"	"0"	"1821"	"0"	"c.1821T>C"	"r.(?)"	"p.(Ile607=)"	""
"0000963041"	"00000244"	"30"	"1830"	"0"	"1830"	"0"	"c.1830G>A"	"r.(?)"	"p.(Pro610=)"	""
"0000963046"	"00000244"	"90"	"3535"	"0"	"3535"	"0"	"c.3535G>T"	"r.(?)"	"p.(Glu1179*)"	""
"0000976150"	"00000244"	"30"	"247"	"410"	"247"	"410"	"c.247+410G>A"	"r.(=)"	"p.(=)"	""
"0000976151"	"00000244"	"30"	"247"	"452"	"247"	"452"	"c.247+452C>T"	"r.(=)"	"p.(=)"	""
"0000976154"	"00000244"	"50"	"967"	"0"	"967"	"0"	"c.967G>A"	"r.(?)"	"p.(Ala323Thr)"	""
"0000976155"	"00000244"	"90"	"1267"	"0"	"1267"	"0"	"c.1267C>T"	"r.(?)"	"p.(Arg423Ter)"	""
"0000976157"	"00000244"	"30"	"1837"	"0"	"1837"	"0"	"c.1837G>A"	"r.(?)"	"p.(Glu613Lys)"	""
"0000976158"	"00000244"	"50"	"2056"	"0"	"2056"	"0"	"c.2056G>A"	"r.(?)"	"p.(Val686Met)"	""
"0000976162"	"00000244"	"50"	"2288"	"0"	"2288"	"0"	"c.2288A>C"	"r.(?)"	"p.(Glu763Ala)"	""
"0000976168"	"00000244"	"50"	"2885"	"0"	"2885"	"0"	"c.2885A>G"	"r.(?)"	"p.(Asp962Gly)"	""
"0000976169"	"00000244"	"50"	"3299"	"0"	"3299"	"0"	"c.3299G>A"	"r.(?)"	"p.(Arg1100His)"	""
"0000976170"	"00000244"	"50"	"3584"	"0"	"3584"	"0"	"c.3584del"	"r.(?)"	"p.(Phe1195Serfs*11)"	""
"0000976171"	"00000244"	"50"	"4098"	"0"	"4098"	"0"	"c.4098A>C"	"r.(?)"	"p.(Glu1366Asp)"	""
"0000976172"	"00000244"	"50"	"4553"	"0"	"4553"	"0"	"c.4553G>A"	"r.(?)"	"p.(Arg1518Gln)"	""
"0000976173"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0000985103"	"00000244"	"70"	"3015"	"-12"	"3015"	"-12"	"c.3015-12T>G"	"r.(3015_3029del)"	"p.(Ile1006_Ser1010del)"	""
"0000985104"	"00000244"	"70"	"1360"	"-29"	"1360"	"-29"	"c.1360-29C>G"	"r.1360_1466del"	"p.Leu454ThrfsTer7"	""
"0000985105"	"00000244"	"70"	"2004"	"-17"	"2004"	"-17"	"c.2004-17A>G"	"r.(2003_2004ins2004-16_2004-1)"	"p.(Arg668SerfsTer68)"	"17i"
"0000985106"	"00000244"	"90"	"4315"	"-23"	"4315"	"-23"	"c.4315-23T>C"	"r.(4315_4437del)"	"p.(Ile1439_Gln1479del)"	""
"0000985148"	"00000244"	"70"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(3084del)"	"p.(Lys1029Argfs*3)"	""
"0000985149"	"00000244"	"70"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(3084del)"	"p.(Lys1029ArgfsTer3)"	""
"0000985150"	"00000244"	"70"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(3289del)"	"p.(Val1097PhefsTer2)"	""
"0000985151"	"00000244"	"70"	"3084"	"0"	"3084"	"0"	"c.3084del"	"r.(3084del)"	"p.(Lys1029ArgfsTer3)"	""
"0000994130"	"00000244"	"30"	"123"	"423"	"123"	"423"	"c.123+423A>G"	"r.(=)"	"p.(=)"	""
"0000994136"	"00000244"	"50"	"1645"	"0"	"1645"	"0"	"c.1645G>A"	"r.(?)"	"p.(Glu549Lys)"	""
"0000994137"	"00000244"	"90"	"1666"	"0"	"1666"	"0"	"c.1666del"	"r.(?)"	"p.(Ile556*)"	""
"0000994143"	"00000244"	"90"	"2848"	"0"	"2848"	"0"	"c.2848C>T"	"r.(?)"	"p.(Arg950Ter)"	""
"0000994144"	"00000244"	"30"	"3197"	"0"	"3197"	"0"	"c.3197C>T"	"r.(?)"	"p.(Pro1066Leu)"	""
"0001011908"	"00000244"	"90"	"4667"	"0"	"4667"	"0"	"c.4667A>T"	"r.(?)"	"p.(Asp1556Val)"	""
"0001011992"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097PhefsTer2)"	""
"0001013941"	"00000244"	"30"	"1978"	"0"	"1978"	"0"	"c.1978G>C"	"r.(?)"	"p.(Val660Leu)"	""
"0001022135"	"00000244"	"70"	"3976"	"-3"	"3976"	"-3"	"c.3976-3C>A"	"r.[3976_4065del,=]"	"p.[Glu1326_Asp1355del,=]"	"30i"
"0001024897"	"00000244"	"50"	"1519"	"0"	"1519"	"0"	"c.1519A>G"	"r.(?)"	"p.(Lys507Glu)"	""
"0001034384"	"00000244"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132*)"	""
"0001034385"	"00000244"	"30"	"1017"	"10"	"1017"	"10"	"c.1017+10C>T"	"r.(=)"	"p.(=)"	""
"0001034386"	"00000244"	"50"	"1895"	"0"	"1895"	"0"	"c.1895A>G"	"r.(?)"	"p.(Gln632Arg)"	""
"0001034387"	"00000244"	"50"	"2161"	"0"	"2161"	"0"	"c.2161C>A"	"r.(?)"	"p.(Pro721Thr)"	""
"0001034400"	"00000244"	"90"	"3145"	"0"	"3145"	"0"	"c.3145C>T"	"r.(?)"	"p.(Arg1049*)"	""
"0001034402"	"00000244"	"50"	"3347"	"0"	"3347"	"0"	"c.3347C>T"	"r.(?)"	"p.(Thr1116Met)"	""
"0001034403"	"00000244"	"50"	"3712"	"0"	"3712"	"0"	"c.3712A>G"	"r.(?)"	"p.(Ile1238Val)"	""
"0001044583"	"00000244"	"90"	"2444"	"0"	"2444"	"0"	"c.2444del"	"r.(2444del)"	"p.(Pro815Leufs*2)"	""
"0001044584"	"00000244"	"90"	"4238"	"0"	"4238"	"0"	"c.4238G>A"	"r.(?)"	"p.(Cys1413Tyr)"	""
"0001051703"	"00000244"	"50"	"247"	"447"	"247"	"447"	"c.247+447C>T"	"r.(=)"	"p.(=)"	""
"0001051704"	"00000244"	"50"	"1565"	"0"	"1565"	"0"	"c.1565T>C"	"r.(?)"	"p.(Phe522Ser)"	""
"0001051705"	"00000244"	"50"	"2182"	"-9"	"2182"	"-9"	"c.2182-9G>A"	"r.(=)"	"p.(=)"	""
"0001051706"	"00000244"	"50"	"2182"	"-9"	"2182"	"-8"	"c.2182-9_2182-8delinsAA"	"r.(=)"	"p.(=)"	""
"0001051707"	"00000244"	"90"	"3289"	"0"	"3289"	"0"	"c.3289del"	"r.(?)"	"p.(Val1097PhefsTer2)"	""
"0001051708"	"00000244"	"70"	"3667"	"0"	"3667"	"0"	"c.3667G>T"	"r.(?)"	"p.(Glu1223Ter)"	""
"0001051709"	"00000244"	"50"	"3975"	"2"	"3975"	"2"	"c.3975+2T>G"	"r.spl?"	"p.?"	""
"0001051710"	"00000244"	"70"	"4384"	"0"	"4384"	"0"	"c.4384T>C"	"r.(?)"	"p.(Trp1462Arg)"	""
"0001051711"	"00000244"	"50"	"4521"	"0"	"4521"	"0"	"c.4521A>T"	"r.(?)"	"p.(Lys1507Asn)"	""
"0001051712"	"00000244"	"50"	"4852"	"0"	"4852"	"0"	"c.4852C>T"	"r.(?)"	"p.(Arg1618Cys)"	""
"0001058518"	"00000244"	"90"	"4533"	"0"	"4533"	"0"	"c.4533G>C"	"r.(?)"	"p.(Trp1511Cys)"	""
"0001058519"	"00000244"	"70"	"248"	"-4"	"248"	"-3"	"c.248-4_248-3insAAGTTTT"	"r.spl"	"p.?"	""
"0001058520"	"00000244"	"70"	"3902"	"0"	"3902"	"0"	"c.3902C>T"	"r.(?)"	"p.(Thr1301Ile)"	""
"0001058521"	"00000244"	"70"	"3989"	"0"	"3989"	"0"	"c.3989G>A"	"r.(?)"	"p.(Arg1330Gln)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 289
"{{screeningid}}"	"{{variantid}}"
"0000028954"	"0000052261"
"0000028954"	"0000052262"
"0000033159"	"0000059614"
"0000033159"	"0000059615"
"0000033187"	"0000059616"
"0000033187"	"0000059617"
"0000050595"	"0000079575"
"0000056005"	"0000086041"
"0000056005"	"0000086042"
"0000056006"	"0000086043"
"0000081192"	"0000130278"
"0000226781"	"0000459811"
"0000226782"	"0000459812"
"0000226783"	"0000459813"
"0000226784"	"0000459814"
"0000226785"	"0000459815"
"0000226786"	"0000459816"
"0000226793"	"0000459829"
"0000226794"	"0000459830"
"0000226794"	"0000459852"
"0000226795"	"0000459831"
"0000226796"	"0000459832"
"0000226797"	"0000459833"
"0000226798"	"0000459834"
"0000226799"	"0000459835"
"0000226800"	"0000459836"
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