### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MC1R)
# 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}}"
"MC1R" "melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)" "16" "q24.3" "unknown" "NG_012026.1" "UD_132118857568" "" "https://www.LOVD.nl/MC1R" "" "1" "6929" "4157" "155555" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MC1R_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-06 00:00:00" "00006" "2020-11-25 19:10:18" "00000" "2026-02-17 10:51:03"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00011884" "MC1R" "melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)" "001" "NM_002386.3" "" "NP_002377.4" "" "" "" "-1380" "1719" "954" "89984287" "89987385" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00477" "OCA2" "albinism, oculocutaneous, type II (OCA-2, brown)" "AR" "203200" "" "" "" "00006" "2014-07-24 21:48:34" "00006" "2021-12-10 21:51:32"
"02047" "SHEP2" "pigmentation, skin/hair/eye, variation in, type 2 (SHEP-2)" "AR" "266300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03252" "analgesia" "analgesia, increased, from kappa-opioid receptor agonist, female-specific" "" "613098" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-25 19:09:27"
"03253" "CMM5" "melanoma, cutaneous, malignant, susceptibility to, type 5 (CMM-5)" "" "613099" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}" "{{diseaseid}}"
"MC1R" "00477"
"MC1R" "02047"
"MC1R" "03252"
"MC1R" "03253"
## Individuals ## Do not remove or alter this header ##
## Count = 61
"{{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}}"
"00074534" "" "" "" "3" "" "01604" "{PMID:Beaumont 2008:18484624}, {DOI:Beaumont 2008:10.1002/humu.20788}" "" "F" "" "Australia" "" "0" "" "" "" "18484624-FamD"
"00074535" "" "" "00074534" "1" "" "01604" "{PMID:Beaumont 2008:18484624}, {DOI:Beaumont 2008: 10.1002/humu.20788}" "" "F" "" "Australia" "" "0" "" "" "" "18484624-FamMother"
"00074536" "" "" "00074534" "1" "" "01604" "{PMID:Beaumont 2008:18484624}, {DOI:Beaumont 2008:10.1002/humu.20788}" "" "M" "" "Australia" "" "0" "" "" "" "18484624-FamFather"
"00074548" "" "" "" "1" "" "01604" "{PMID:Box 1997:9302268}" "" "" "" "Australia" "" "0" "" "" "" "9302268"
"00074550" "" "" "" "1" "" "01604" "{PMID:Box 1997:9302268}" "" "" "" "Australia" "" "0" "" "" "" "9302268_Cas"
"00074551" "" "" "" "2" "" "01604" "{PMID:Box 1997:9302268}" "" "" "" "Australia" "" "0" "" "" "" "9302268"
"00074552" "" "" "" "1" "" "01604" "{PMID:Box 1997:9302268}" "" "" "" "Australia" "" "0" "" "" "" "9302268"
"00074558" "" "" "" "1" "" "01604" "{PMID:Box 1997:9302268}" "" "" "" "Australia" "" "0" "" "" "" "9302268"
"00074560" "" "" "" "15" "" "01604" "{PMID:Box 1997:9302268}" "" "" "" "Australia" "" "0" "" "" "" "9302268"
"00074561" "" "" "" "1" "" "01604" "{PMID:Box 1997:9302268}" "" "" "" "Australia" "" "0" "" "" "" "9302268"
"00074562" "" "" "" "8" "" "01604" "{PMID:Box 1997:9302268}" "" "" "" "Australia" "" "0" "" "" "" "9302268"
"00074563" "" "" "" "1" "" "01604" "{PMID:Box 1997:9302268}" "" "" "" "Australia" "" "0" "" "" "" "9302268"
"00074564" "" "" "" "1" "" "01604" "{PMID:Box 1997:9302268}" "" "" "" "Australia" "" "0" "" "" "" "9302268"
"00074566" "" "" "" "1" "" "01604" "{PMID:Box 1997:9302268}" "" "" "" "Australia" "" "0" "" "" "" "9302268"
"00074630" "" "" "" "13" "" "00006" "{PMID:Flanagan 2000:11030758}" "4-generation family, 13 red hair (7F, 6M)" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074631" "" "" "00074630" "4" "" "00006" "{PMID:Flanagan 2000:11030758}" "" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074632" "" "" "00074630" "4" "" "00006" "{PMID:Flanagan 2000:11030758}" "" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074633" "" "" "00074630" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074634" "" "" "" "3" "" "00006" "{PMID:Flanagan 2000:11030758}" "controls (no red hair phenotype)" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074635" "" "" "" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "control (no red hair phenotype)" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074636" "" "" "" "10" "" "00006" "{PMID:Flanagan 2000:11030758}" "4-generation family, 10 red hair (4F, 6M)" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074637" "" "" "00074636" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074638" "" "" "00074636" "2" "" "00006" "{PMID:Flanagan 2000:11030758}" "2 sisters" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074639" "" "" "00074636" "2" "" "00006" "{PMID:Flanagan 2000:11030758}" "2 brothers" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074640" "" "" "00074636" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074641" "" "" "00074636" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074642" "" "" "" "12" "" "00006" "{PMID:Flanagan 2000:11030758}" "4-generation family, 12 red hair (7F, 5M), female" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074643" "" "" "00074642" "3" "" "00006" "{PMID:Flanagan 2000:11030758}" "3 sisters, 1 no red hair" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074644" "" "" "00074642" "2" "" "00006" "{PMID:Flanagan 2000:11030758}" "brother and sister" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074645" "" "" "00074642" "5" "" "00006" "{PMID:Flanagan 2000:11030758}" "" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074646" "" "" "" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "2 individuals, 1 no red hair" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074647" "" "" "00074642" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074648" "" "" "" "10" "" "00006" "{PMID:Flanagan 2000:11030758}" "controls (no red hair phenotype), 2 relatives" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074649" "" "" "00074648" "2" "" "00006" "{PMID:Flanagan 2000:11030758}" "controls (no red hair phenotype), 2 relatives" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074650" "" "" "00074648" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "controls (no red hair phenotype)" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074651" "" "" "00074648" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "controls (no red hair phenotype)" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074652" "" "" "00074648" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "controls (no red hair phenotype)" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00074653" "" "" "00074648" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "controls (no red hair phenotype)" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00079090" "" "" "" "46" "" "00006" "{PMID:Flanagan 2000:11030758}" "149 non-red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079091" "" "" "" "4" "" "00006" "{PMID:Flanagan 2000:11030758}" "149 non-red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079092" "" "" "" "28" "" "00006" "{PMID:Flanagan 2000:11030758}" "149 non-red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079093" "" "" "" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "149 non-red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079094" "" "" "" "21" "" "00006" "{PMID:Flanagan 2000:11030758}" "149 non-red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079095" "" "" "" "3" "" "00006" "{PMID:Flanagan 2000:11030758}" "149 non-red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079096" "" "" "" "20" "" "00006" "{PMID:Flanagan 2000:11030758}" "149 non-red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079097" "" "" "" "16" "" "00006" "{PMID:Flanagan 2000:11030758}" "149 non-red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079098" "" "" "" "7" "" "00006" "{PMID:Flanagan 2000:11030758}" "149 non-red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079099" "" "" "" "4" "" "00006" "{PMID:Flanagan 2000:11030758}" "18 red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079100" "" "" "" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "18 red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079101" "" "" "" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "18 red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079102" "" "" "" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "18 red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079103" "" "" "" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "18 red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079104" "" "" "" "12" "" "00006" "{PMID:Flanagan 2000:11030758}" "18 red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079105" "" "" "" "9" "" "00006" "{PMID:Flanagan 2000:11030758}" "18 red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079106" "" "" "" "5" "" "00006" "{PMID:Flanagan 2000:11030758}" "18 red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00079107" "" "" "" "1" "" "00006" "{PMID:Flanagan 2000:11030758}" "18 red hair individuals" "" "" "" "" "0" "" "" "European, white (white)" ""
"00291605" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291606" "" "" "" "123" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291607" "" "" "" "39" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304552" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304553" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 52
"{{individualid}}" "{{diseaseid}}"
"00074534" "00000"
"00074535" "00000"
"00074536" "00000"
"00074548" "00000"
"00074550" "00000"
"00074551" "00000"
"00074552" "00000"
"00074558" "00000"
"00074560" "00000"
"00074561" "00000"
"00074562" "00000"
"00074563" "00000"
"00074564" "00000"
"00074566" "00000"
"00074630" "02047"
"00074631" "02047"
"00074632" "02047"
"00074633" "02047"
"00074634" "00000"
"00074635" "00000"
"00074636" "02047"
"00074637" "02047"
"00074638" "02047"
"00074639" "02047"
"00074640" "02047"
"00074641" "02047"
"00074642" "02047"
"00074643" "02047"
"00074644" "02047"
"00074645" "02047"
"00074646" "02047"
"00074647" "02047"
"00074648" "00000"
"00074649" "00000"
"00074650" "00000"
"00074651" "00000"
"00074652" "00000"
"00074653" "00000"
"00079099" "02047"
"00079100" "02047"
"00079101" "02047"
"00079102" "02047"
"00079103" "02047"
"00079104" "02047"
"00079105" "02047"
"00079106" "02047"
"00079107" "02047"
"00291605" "00198"
"00291606" "00198"
"00291607" "00198"
"00304552" "00198"
"00304553" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00477, 02047, 03252, 03253
## Count = 38
"{{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}}"
"0000054331" "00000" "00074534" "01604" "Familial, autosomal recessive" "" "red hair (HP:0002297), fair skin colour (HP:0007513), brown eye colour (HP:?)" "" "" "" "" "" "" "" "" "" "" ""
"0000054333" "00000" "00074536" "01604" "Familial, autosomal recessive" "" "no red hair (-HP:0002297), light brown hair colour (HP:?), fair skin colour (HP:0007513), hazel/green eye colour (HP:?)" "" "" "" "" "" "" "" "" "" "" ""
"0000054345" "00000" "00074548" "01604" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054347" "00000" "00074550" "01604" "Familial, autosomal recessive" "" "red hair (HP:0002297), fair/pale skin" "" "" "" "" "" "" "" "" "" "" ""
"0000054348" "00000" "00074551" "01604" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054349" "00000" "00074552" "01604" "Unknown" "" "dark bron hair, medum coloured skin" "" "" "" "" "" "" "" "" "" "" ""
"0000054354" "00000" "00074558" "01604" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054357" "00000" "00074560" "01604" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054358" "00000" "00074561" "01604" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054359" "00000" "00074562" "01604" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054360" "00000" "00074563" "01604" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054361" "00000" "00074564" "01604" "Familial, autosomal recessive" "" "red hair (HP:0002297), fair/pale skin" "" "" "" "" "" "" "" "" "" "" ""
"0000054363" "00000" "00074566" "01604" "Unknown" "" "red hair (HP:0002297), fair/pale skin" "" "" "" "" "" "" "" "" "" "" ""
"0000054386" "02047" "00074630" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054387" "02047" "00074631" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054388" "02047" "00074632" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054389" "02047" "00074633" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054390" "02047" "00074636" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054391" "02047" "00074637" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054392" "02047" "00074638" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054393" "02047" "00074639" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054394" "02047" "00074640" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054395" "02047" "00074641" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054396" "02047" "00074642" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054397" "02047" "00074643" "00006" "Familial, autosomal recessive" "" "2 red hair (HP:0002297), 1 not" "" "" "" "" "" "" "" "" "" "" ""
"0000054398" "02047" "00074644" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054399" "02047" "00074645" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000054400" "02047" "00074646" "00006" "Familial, autosomal recessive" "" "1 red hair (HP:0002297), 1 no red hair" "" "" "" "" "" "" "" "" "" "" ""
"0000054401" "02047" "00074647" "00006" "Familial, autosomal recessive" "" "red hair (HP:0002297)" "" "" "" "" "" "" "" "" "" "" ""
"0000058834" "02047" "00079099" "00006" "Familial, autosomal recessive" "" "red hair" "" "" "" "" "" "" "" "" "" "" ""
"0000058835" "02047" "00079100" "00006" "Familial, autosomal recessive" "" "red hair" "" "" "" "" "" "" "" "" "" "" ""
"0000058836" "02047" "00079101" "00006" "Familial, autosomal recessive" "" "red hair" "" "" "" "" "" "" "" "" "" "" ""
"0000058837" "02047" "00079102" "00006" "Familial, autosomal recessive" "" "red hair" "" "" "" "" "" "" "" "" "" "" ""
"0000058838" "02047" "00079103" "00006" "Familial, autosomal recessive" "" "red hair" "" "" "" "" "" "" "" "" "" "" ""
"0000058839" "02047" "00079104" "00006" "Familial, autosomal recessive" "" "red hair" "" "" "" "" "" "" "" "" "" "" ""
"0000058840" "02047" "00079105" "00006" "Familial, autosomal recessive" "" "red hair" "" "" "" "" "" "" "" "" "" "" ""
"0000058841" "02047" "00079106" "00006" "Familial, autosomal recessive" "" "red hair" "" "" "" "" "" "" "" "" "" "" ""
"0000058842" "02047" "00079107" "00006" "Familial, autosomal recessive" "" "red hair" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 61
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000074697" "00074534" "1" "01604" "01604" "2016-07-07 14:36:41" "" "" "PCR;SEQ" "DNA" "" ""
"0000074698" "00074535" "1" "01604" "01604" "2016-07-07 14:42:43" "" "" "PCR;SEQ" "DNA" "" ""
"0000074699" "00074536" "1" "01604" "01604" "2016-07-07 14:57:50" "" "" "PCR;SEQ" "DNA" "" ""
"0000074711" "00074548" "1" "01604" "01604" "2016-07-08 12:03:20" "" "" "PCR;SEQ" "DNA" "" ""
"0000074713" "00074550" "1" "01604" "01604" "2016-07-08 12:09:05" "" "" "PCR;SEQ" "DNA" "" ""
"0000074714" "00074551" "1" "01604" "01604" "2016-07-08 12:12:43" "" "" "PCR;SEQ" "DNA" "" ""
"0000074715" "00074552" "1" "01604" "01604" "2016-07-08 12:14:52" "" "" "PCR;SEQ" "DNA" "" ""
"0000074720" "00074558" "1" "01604" "01604" "2016-07-08 12:59:39" "" "" "PCR;SEQ" "DNA" "" ""
"0000074723" "00074560" "1" "01604" "01604" "2016-07-08 13:18:03" "" "" "PCR;SEQ" "DNA" "" ""
"0000074724" "00074561" "1" "01604" "01604" "2016-07-08 13:21:03" "" "" "PCR;SEQ" "DNA" "" ""
"0000074725" "00074562" "1" "01604" "01604" "2016-07-08 13:22:59" "" "" "PCR;SEQ" "DNA" "" ""
"0000074726" "00074563" "1" "01604" "01604" "2016-07-08 13:25:07" "" "" "PCR;SEQ" "DNA" "" ""
"0000074727" "00074564" "1" "01604" "01604" "2016-07-08 13:27:13" "" "" "PCR;SEQ" "DNA" "" ""
"0000074729" "00074566" "1" "01604" "01604" "2016-07-08 13:29:11" "" "" "PCR;SEQ" "DNA" "" ""
"0000074795" "00074630" "1" "00006" "00006" "2016-07-11 21:25:38" "" "" "SEQ" "DNA" "" ""
"0000074796" "00074631" "1" "00006" "00006" "2016-07-11 21:32:38" "" "" "SEQ" "DNA" "" ""
"0000074797" "00074632" "1" "00006" "00006" "2016-07-11 21:38:20" "" "" "SEQ" "DNA" "" ""
"0000074798" "00074633" "1" "00006" "00006" "2016-07-11 21:42:36" "" "" "SEQ" "DNA" "" ""
"0000074799" "00074634" "1" "00006" "00006" "2016-07-11 21:56:21" "" "" "SEQ" "DNA" "" ""
"0000074800" "00074635" "1" "00006" "00006" "2016-07-11 22:04:51" "" "" "SEQ" "DNA" "" ""
"0000074801" "00074636" "1" "00006" "00006" "2016-07-11 22:13:39" "" "" "SEQ" "DNA" "" ""
"0000074802" "00074637" "1" "00006" "00006" "2016-07-11 22:21:33" "" "" "SEQ" "DNA" "" ""
"0000074803" "00074638" "1" "00006" "00006" "2016-07-11 22:26:55" "" "" "SEQ" "DNA" "" ""
"0000074804" "00074639" "1" "00006" "00006" "2016-07-11 22:35:57" "" "" "SEQ" "DNA" "" ""
"0000074805" "00074640" "1" "00006" "00006" "2016-07-11 22:41:17" "" "" "SEQ" "DNA" "" ""
"0000074806" "00074641" "1" "00006" "00006" "2016-07-11 22:46:18" "" "" "SEQ" "DNA" "" ""
"0000074807" "00074642" "1" "00006" "00006" "2016-07-11 22:50:34" "" "" "SEQ" "DNA" "" ""
"0000074808" "00074643" "1" "00006" "00006" "2016-07-11 22:55:45" "" "" "SEQ" "DNA" "" ""
"0000074809" "00074644" "1" "00006" "00006" "2016-07-11 23:04:59" "" "" "SEQ" "DNA" "" ""
"0000074810" "00074645" "1" "00006" "00006" "2016-07-11 23:14:06" "" "" "SEQ" "DNA" "" ""
"0000074811" "00074646" "1" "00006" "00006" "2016-07-11 23:20:36" "" "" "SEQ" "DNA" "" ""
"0000074812" "00074647" "1" "00006" "00006" "2016-07-11 23:29:52" "" "" "SEQ" "DNA" "" ""
"0000074813" "00074648" "1" "00006" "00006" "2016-07-11 23:38:55" "" "" "SEQ" "DNA" "" ""
"0000074814" "00074649" "1" "00006" "00006" "2016-07-12 08:17:02" "" "" "SEQ" "DNA" "" ""
"0000074815" "00074650" "1" "00006" "00006" "2016-07-12 08:23:39" "" "" "SEQ" "DNA" "" ""
"0000074816" "00074651" "1" "00006" "00006" "2016-07-12 08:29:03" "" "" "SEQ" "DNA" "" ""
"0000074817" "00074652" "1" "00006" "00006" "2016-07-12 08:41:41" "" "" "SEQ" "DNA" "" ""
"0000074818" "00074653" "1" "00006" "00006" "2016-07-12 08:46:20" "" "" "SEQ" "DNA" "" ""
"0000079275" "00079090" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079276" "00079091" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079277" "00079092" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079278" "00079093" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079279" "00079094" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079280" "00079095" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079281" "00079096" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079282" "00079097" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079283" "00079098" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079284" "00079099" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079285" "00079100" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079286" "00079101" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079287" "00079102" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079288" "00079103" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079289" "00079104" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079290" "00079105" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079291" "00079106" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000079292" "00079107" "1" "00006" "00006" "2016-07-31 21:32:10" "" "" "SEQ" "DNA" "" ""
"0000292773" "00291605" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292774" "00291606" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292775" "00291607" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305681" "00304552" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305682" "00304553" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 56
"{{screeningid}}" "{{geneid}}"
"0000074697" "MC1R"
"0000074698" "MC1R"
"0000074699" "MC1R"
"0000074711" "MC1R"
"0000074713" "MC1R"
"0000074714" "MC1R"
"0000074715" "MC1R"
"0000074720" "MC1R"
"0000074723" "MC1R"
"0000074724" "MC1R"
"0000074725" "MC1R"
"0000074726" "MC1R"
"0000074727" "MC1R"
"0000074729" "MC1R"
"0000074795" "MC1R"
"0000074796" "MC1R"
"0000074797" "MC1R"
"0000074798" "MC1R"
"0000074799" "MC1R"
"0000074800" "MC1R"
"0000074801" "MC1R"
"0000074802" "MC1R"
"0000074803" "MC1R"
"0000074804" "MC1R"
"0000074805" "MC1R"
"0000074806" "MC1R"
"0000074807" "MC1R"
"0000074808" "MC1R"
"0000074809" "MC1R"
"0000074810" "MC1R"
"0000074811" "MC1R"
"0000074812" "MC1R"
"0000074813" "MC1R"
"0000074814" "MC1R"
"0000074815" "MC1R"
"0000074816" "MC1R"
"0000074817" "MC1R"
"0000074818" "MC1R"
"0000079275" "MC1R"
"0000079276" "MC1R"
"0000079277" "MC1R"
"0000079278" "MC1R"
"0000079279" "MC1R"
"0000079280" "MC1R"
"0000079281" "MC1R"
"0000079282" "MC1R"
"0000079283" "MC1R"
"0000079284" "MC1R"
"0000079285" "MC1R"
"0000079286" "MC1R"
"0000079287" "MC1R"
"0000079288" "MC1R"
"0000079289" "MC1R"
"0000079290" "MC1R"
"0000079291" "MC1R"
"0000079292" "MC1R"
## 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 = 149
"{{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}}"
"0000119751" "11" "90" "16" "89985752" "89985752" "dup" "0" "01604" "MC1R_000004" "g.89985752dup" "" "{PMID:Beaumont 2008:18484624}, {DOI:Beaumont 2008: 10.1002/humu.20788}" "" "86_87insA" "" "Germline" "" "" "0" "" "" "g.89919344dup" "" "pathogenic" ""
"0000119752" "21" "90" "16" "89986203" "89986203" "dup" "0" "01604" "MC1R_000009" "g.89986203dup" "" "{PMID:Beaumont 2008:18484624}, {DOI:Beaumont 2008: 10.1002/humu.20788}" "" "537_538insC" "" "Germline" "" "" "0" "" "" "g.89919795dup" "" "pathogenic" ""
"0000119753" "1" "90" "16" "89986203" "89986203" "dup" "0" "01604" "MC1R_000009" "g.89986203dup" "" "{PMID:Beaumont 2008:18484624}, {DOI:Beaumont 2008: 10.1002/humu.20788}" "" "537_538insC" "" "Germline" "" "" "0" "" "" "g.89919795dup" "" "pathogenic" ""
"0000119754" "1" "90" "16" "89985752" "89985752" "dup" "0" "01604" "MC1R_000004" "g.89985752dup" "" "{PMID:Beaumont 2008:18484624}, {DOI:Beaumont 2008:10.1002/humu.20788}" "" "86_87insA" "" "Germline" "" "" "0" "" "" "g.89919344dup" "" "pathogenic" ""
"0000119771" "1" "10" "16" "89985844" "89985844" "subst" "0.0849313" "01604" "MC1R_000013" "g.89985844G>T" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919436G>T" "" "benign" ""
"0000119773" "1" "10" "16" "89985861" "89985861" "subst" "0" "01604" "MC1R_000016" "g.89985861G>T" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919453G>T" "" "benign" ""
"0000119775" "1" "10" "16" "89985918" "89985918" "" "0" "01604" "MC1R_000008" "g.89985918C>R" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000119776" "1" "10" "16" "89985940" "89985940" "subst" "4.07302E-6" "01604" "MC1R_000017" "g.89985940G>C" "1/33 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919532G>C" "" "benign" ""
"0000119783" "1" "10" "16" "89986091" "89986091" "subst" "0.00525794" "01604" "MC1R_000011" "g.89986091G>A" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919683G>A" "" "benign" ""
"0000119786" "1" "70" "16" "89986117" "89986117" "subst" "0.0444094" "01604" "MC1R_000003" "g.89986117C>T" "15/25 cases (5 homozygous)" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919709C>T" "" "association" ""
"0000119787" "1" "10" "16" "89986130" "89986130" "subst" "0.00556127" "01604" "MC1R_000007" "g.89986130T>C" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919722T>C" "" "benign" ""
"0000119788" "1" "70" "16" "89986144" "89986144" "subst" "0.047416" "01604" "MC1R_000002" "g.89986144C>T" "8/25 cases (2 homozygous)" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919736C>T" "" "association" ""
"0000119789" "1" "10" "16" "89986154" "89986154" "subst" "0.150742" "01604" "MC1R_000012" "g.89986154G>A" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919746G>A" "" "benign" ""
"0000119790" "1" "30" "16" "89986546" "89986546" "subst" "0.00910346" "01604" "MC1R_000001" "g.89986546G>C" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "associated with red hair" "Germline" "" "" "0" "" "" "g.89920138G>C" "" "association" ""
"0000119792" "1" "10" "16" "89986561" "89986561" "subst" "4.47082E-5" "01604" "MC1R_000019" "g.89986561G>A" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89920153G>A" "" "benign" ""
"0000119868" "11" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "2/13 cases" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "yes" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000119869" "21" "99" "16" "89986144" "89986144" "subst" "0.047416" "00006" "MC1R_000002" "g.89986144C>T" "2/13 cases" "{PMID:Flanagan 2000:11030758}" "" "R160W" "" "Germline" "yes" "" "0" "" "" "g.89919736C>T" "" "pathogenic" ""
"0000119870" "1" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "4/13 cases" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "yes" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000119871" "2" "99" "16" "89986117" "89986117" "subst" "0.0444094" "00006" "MC1R_000003" "g.89986117C>T" "4/13 cases" "{PMID:Flanagan 2000:11030758}" "" "R151C" "" "Germline" "yes" "" "0" "" "" "g.89919709C>T" "" "pathogenic" ""
"0000119872" "3" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "4/13 cases" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "yes" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000119873" "21" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "1/13 cases" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "yes" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000119874" "10" "99" "16" "89985752" "89985752" "dup" "0" "00006" "MC1R_000004" "g.89985752dup" "1/13 cases" "{PMID:Flanagan 2000:11030758}" "" "86insA" "probable non-paternity for this allele" "Germline" "" "" "0" "" "" "g.89919344dup" "" "pathogenic" ""
"0000119875" "21" "99" "16" "89986117" "89986117" "subst" "0.0444094" "00006" "MC1R_000003" "g.89986117C>T" "" "{PMID:Flanagan 2000:11030758}" "" "R151C" "" "Germline" "" "" "0" "" "" "g.89919709C>T" "" "pathogenic" ""
"0000119876" "10" "33" "16" "89985940" "89985940" "subst" "0.077758" "00006" "MC1R_000005" "g.89985940G>A" "" "{PMID:Flanagan 2000:11030758}" "" "V92M" "" "Germline" "" "" "0" "" "" "g.89919532G>A" "" "likely benign" ""
"0000119877" "10" "11" "16" "89986608" "89986608" "subst" "0" "00006" "MC1R_000006" "g.89986608A>B" "" "{PMID:Flanagan 2000:11030758}" "" "T314T" "" "Germline" "" "" "0" "" "" "g.89920200A>B" "" "benign" ""
"0000119878" "1" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000119879" "2" "11" "16" "89986608" "89986608" "subst" "0" "00006" "MC1R_000006" "g.89986608A>B" "" "{PMID:Flanagan 2000:11030758}" "" "T314T" "" "Germline" "" "" "0" "" "" "g.89920200A>B" "" "benign" ""
"0000119880" "2" "33" "16" "89986130" "89986130" "subst" "0.00556127" "00006" "MC1R_000007" "g.89986130T>C" "" "{PMID:Flanagan 2000:11030758}" "" "I155T" "" "Germline" "" "" "0" "" "" "g.89919722T>C" "" "likely benign" ""
"0000119881" "21" "99" "16" "89986144" "89986144" "subst" "0.047416" "00006" "MC1R_000002" "g.89986144C>T" "1/10 cases" "{PMID:Flanagan 2000:11030758}" "" "R160W" "" "Germline" "yes" "" "0" "" "" "g.89919736C>T" "" "pathogenic" ""
"0000119882" "10" "99" "16" "89985918" "89985918" "subst" "0" "00006" "MC1R_000008" "g.89985918C>R" "1/10 cases" "{PMID:Flanagan 2000:11030758}" "" "D84E" "" "Germline" "yes" "" "0" "" "" "g.89919510C>R" "" "pathogenic" ""
"0000119883" "10" "99" "16" "89986144" "89986144" "subst" "0.047416" "00006" "MC1R_000002" "g.89986144C>T" "1/10 cases" "{PMID:Flanagan 2000:11030758}" "" "R160W" "" "Germline" "yes" "" "0" "" "" "g.89919736C>T" "" "pathogenic" ""
"0000119884" "21" "99" "16" "89986203" "89986203" "dup" "0" "00006" "MC1R_000009" "g.89986203dup" "1/10 cases" "{PMID:Flanagan 2000:11030758}" "" "537insC" "" "Germline" "yes" "" "0" "" "" "g.89919795dup" "" "pathogenic" ""
"0000119885" "10" "99" "16" "89986203" "89986203" "dup" "0" "00006" "MC1R_000009" "g.89986203dup" "2/10 cases" "{PMID:Flanagan 2000:11030758}" "" "537insC" "" "Germline" "yes" "" "0" "" "" "g.89919795dup" "" "pathogenic" ""
"0000119886" "21" "99" "16" "89985918" "89985918" "subst" "0" "00006" "MC1R_000008" "g.89985918C>R" "2/10 cases" "{PMID:Flanagan 2000:11030758}" "" "D84E" "" "Germline" "yes" "" "0" "" "" "g.89919510C>R" "" "pathogenic" ""
"0000119887" "21" "99" "16" "89985844" "89985844" "subst" "0" "00006" "MC1R_000010" "g.89985844G>Y" "2/10 cases" "{PMID:Flanagan 2000:11030758}" "" "V60L" "" "Germline" "yes" "" "0" "" "" "g.89919436G>Y" "" "pathogenic" ""
"0000119888" "10" "99" "16" "89986203" "89986203" "dup" "0" "00006" "MC1R_000009" "g.89986203dup" "2/10 cases" "{PMID:Flanagan 2000:11030758}" "" "537insC" "" "Germline" "yes" "" "0" "" "" "g.89919795dup" "" "pathogenic" ""
"0000119889" "1" "99" "16" "89985844" "89985844" "subst" "0" "00006" "MC1R_000010" "g.89985844G>Y" "1/10 cases" "{PMID:Flanagan 2000:11030758}" "" "V60L" "" "Germline" "" "" "0" "" "" "g.89919436G>Y" "" "pathogenic" ""
"0000119890" "2" "99" "16" "89985918" "89985918" "subst" "0" "00006" "MC1R_000008" "g.89985918C>R" "" "{PMID:Flanagan 2000:11030758}" "" "D84E" "" "Germline" "" "" "0" "" "" "g.89919510C>R" "" "pathogenic" ""
"0000119891" "0" "95" "16" "89986203" "89986203" "dup" "0" "00006" "MC1R_000009" "g.89986203dup" "1/10 cases" "{PMID:Flanagan 2000:11030758}" "" "537insC" "no variant found in other allele" "Germline" "" "" "0" "" "" "g.89919795dup" "" "pathogenic" ""
"0000119892" "3" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "1/12 cases" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "yes" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000119893" "1" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "2/12 cases" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "yes" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000119894" "2" "95" "16" "89986091" "89986091" "subst" "0.00525794" "00006" "MC1R_000011" "g.89986091G>A" "2/12 cases" "{PMID:Flanagan 2000:11030758}" "" "R142H" "" "Germline" "yes" "" "0" "" "" "g.89919683G>A" "" "pathogenic" ""
"0000119895" "1" "99" "16" "89986144" "89986144" "subst" "0.047416" "00006" "MC1R_000002" "g.89986144C>T" "2/12 cases" "{PMID:Flanagan 2000:11030758}" "" "R160W" "" "Germline" "yes" "" "0" "" "" "g.89919736C>T" "" "pathogenic" ""
"0000119896" "2" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "2/10 cases" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "yes" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000119897" "1" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "5/12 cases" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "yes" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000119898" "2" "99" "16" "89986117" "89986117" "subst" "0.0444094" "00006" "MC1R_000003" "g.89986117C>T" "5/12 cases" "{PMID:Flanagan 2000:11030758}" "" "R151C" "" "Germline" "yes" "" "0" "" "" "g.89919709C>T" "" "pathogenic" ""
"0000119899" "1" "99" "16" "89986117" "89986117" "subst" "0.0444094" "00006" "MC1R_000003" "g.89986117C>T" "1/12 cases" "{PMID:Flanagan 2000:11030758}" "" "R151C" "" "Germline" "yes" "" "0" "" "" "g.89919709C>T" "" "pathogenic" ""
"0000119900" "2" "99" "16" "89985844" "89985844" "subst" "0" "00006" "MC1R_000010" "g.89985844G>C" "1/12 cases" "{PMID:Flanagan 2000:11030758}" "" "V60L" "Variant 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." "Germline" "yes" "" "0" "" "" "g.89919436G>Y" "" "pathogenic" ""
"0000119901" "1" "99" "16" "89986117" "89986117" "subst" "0.0444094" "00006" "MC1R_000003" "g.89986117C>T" "1/12 cases" "{PMID:Flanagan 2000:11030758}" "" "R151C" "" "Germline" "" "" "0" "" "" "g.89919709C>T" "" "pathogenic" ""
"0000119902" "2" "95" "16" "89986091" "89986091" "subst" "0.00525794" "00006" "MC1R_000011" "g.89986091G>A" "1/12 cases" "{PMID:Flanagan 2000:11030758}" "" "R142H" "" "Germline" "" "" "0" "" "" "g.89919683G>A" "" "pathogenic" ""
"0000119903" "1" "99" "16" "89985844" "89985844" "subst" "0" "00006" "MC1R_000010" "g.89985844G>Y" "" "{PMID:Flanagan 2000:11030758}" "" "V60L" "" "Germline" "" "" "0" "" "" "g.89919436G>Y" "" "pathogenic" ""
"0000119904" "2" "95" "16" "89986091" "89986091" "subst" "0.00525794" "00006" "MC1R_000011" "g.89986091G>A" "" "{PMID:Flanagan 2000:11030758}" "" "R142H" "" "Germline" "" "" "0" "" "" "g.89919683G>A" "" "pathogenic" ""
"0000119905" "1" "95" "16" "89986091" "89986091" "subst" "0.00525794" "00006" "MC1R_000011" "g.89986091G>A" "" "{PMID:Flanagan 2000:11030758}" "" "R142H" "" "Germline" "" "" "0" "" "" "g.89919683G>A" "" "pathogenic" ""
"0000119906" "2" "35" "16" "89986154" "89986154" "subst" "0.150742" "00006" "MC1R_000012" "g.89986154G>A" "" "{PMID:Flanagan 2000:11030758}" "" "R163Q" "" "Germline" "" "" "0" "" "" "g.89919746G>A" "" "likely benign" ""
"0000119907" "1" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000119908" "2" "33" "16" "89985940" "89985940" "subst" "0.077758" "00006" "MC1R_000005" "g.89985940G>A" "" "{PMID:Flanagan 2000:11030758}" "" "V92M" "" "Germline" "" "" "0" "" "" "g.89919532G>A" "" "likely benign" ""
"0000119909" "2" "11" "16" "89986608" "89986608" "subst" "0" "00006" "MC1R_000006" "g.89986608A>B" "" "{PMID:Flanagan 2000:11030758}" "" "T314T" "" "Germline" "" "" "0" "" "" "g.89920200A>B" "" "benign" ""
"0000119910" "2" "11" "16" "89986608" "89986608" "subst" "0" "00006" "MC1R_000006" "g.89986608A>B" "" "{PMID:Flanagan 2000:11030758}" "" "T314T" "" "Germline" "" "" "0" "" "" "g.89920200A>B" "" "benign" ""
"0000119911" "2" "33" "16" "89985940" "89985940" "subst" "0.077758" "00006" "MC1R_000005" "g.89985940G>A" "" "{PMID:Flanagan 2000:11030758}" "" "V92M" "" "Germline" "" "" "0" "" "" "g.89919532G>A" "" "likely benign" ""
"0000119912" "1" "99" "16" "89986144" "89986144" "subst" "0.047416" "00006" "MC1R_000002" "g.89986144C>T" "" "{PMID:Flanagan 2000:11030758}" "" "R160W" "" "Germline" "" "" "0" "" "" "g.89919736C>T" "" "pathogenic" ""
"0000119913" "1" "95" "16" "89986091" "89986091" "subst" "0.00525794" "00006" "MC1R_000011" "g.89986091G>A" "" "{PMID:Flanagan 2000:11030758}" "" "R142H" "" "Germline" "" "" "0" "" "" "g.89919683G>A" "" "pathogenic" ""
"0000119914" "2" "11" "16" "89986608" "89986608" "subst" "0" "00006" "MC1R_000006" "g.89986608A>B" "" "{PMID:Flanagan 2000:11030758}" "" "T314T" "" "Germline" "" "" "0" "" "" "g.89920200A>B" "" "benign" ""
"0000119915" "2" "33" "16" "89985940" "89985940" "subst" "0.077758" "00006" "MC1R_000005" "g.89985940G>A" "" "{PMID:Flanagan 2000:11030758}" "" "V92M" "" "Germline" "" "" "0" "" "" "g.89919532G>A" "" "likely benign" ""
"0000119916" "1" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000119917" "2" "35" "16" "89986154" "89986154" "subst" "0.150742" "00006" "MC1R_000012" "g.89986154G>A" "" "{PMID:Flanagan 2000:11030758}" "" "R163Q" "" "Germline" "" "" "0" "" "" "g.89919746G>A" "" "likely benign" ""
"0000127900" "1" "99" "16" "89986091" "89986091" "subst" "0.00525794" "00006" "MC1R_000011" "g.89986091G>A" "" "{PMID:Flanagan 2000:11030758}" "" "" "associated with red hair, inheritance autosomal recessive" "SUMMARY record" "yes" "" "0" "" "" "g.89919683G>A" "" "pathogenic" ""
"0000127901" "1" "99" "16" "89986117" "89986117" "subst" "0.0444094" "00006" "MC1R_000003" "g.89986117C>T" "" "{PMID:Flanagan 2000:11030758}" "" "" "associated with red hair, inheritance autosomal recessive; in heterozygotes significantly elevated risk of red hair" "SUMMARY record" "yes" "" "0" "" "" "g.89919709C>T" "" "pathogenic" ""
"0000127902" "1" "99" "16" "89986203" "89986203" "dup" "0" "00006" "MC1R_000009" "g.89986203dup" "" "{PMID:Flanagan 2000:11030758}" "" "537insC" "associated with red hair, inheritance autosomal recessive; in heterozygotes significantly elevated risk of red hair" "SUMMARY record" "yes" "" "0" "" "" "g.89919795dup" "" "pathogenic" ""
"0000127903" "1" "99" "16" "89986144" "89986144" "subst" "0.047416" "00006" "MC1R_000002" "g.89986144C>T" "" "{PMID:Flanagan 2000:11030758}" "" "" "associated with red hair, inheritance autosomal recessive" "SUMMARY record" "yes" "" "0" "" "" "g.89919736C>T" "" "pathogenic" ""
"0000127904" "1" "99" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "" "{PMID:Flanagan 2000:11030758}" "" "" "associated with red hair, inheritance autosomal recessive" "SUMMARY record" "yes" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000127905" "1" "99" "16" "89985752" "89985752" "dup" "0" "00006" "MC1R_000004" "g.89985752dup" "" "{PMID:Flanagan 2000:11030758}" "" "86insA" "associated with red hair, inheritance autosomal recessive" "SUMMARY record" "yes" "" "0" "" "" "g.89919344dup" "" "pathogenic" ""
"0000127906" "1" "77" "16" "89985844" "89985844" "subst" "0.0849313" "00006" "MC1R_000013" "g.89985844G>T" "" "{PMID:Flanagan 2000:11030758}" "" "" "associated with red hair, partially penetrant autosomal recessive allele" "SUMMARY record" "yes" "rs1805005" "0" "" "" "g.89919436G>T" "" "likely pathogenic" ""
"0000127912" "1" "10" "16" "89985844" "89985844" "subst" "0.0849313" "00006" "MC1R_000013" "g.89985844G>T" "46/298 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "V60L" "" "Germline" "" "" "0" "" "" "g.89919436G>T" "" "benign" ""
"0000127913" "1" "99" "16" "89985918" "89985918" "subst" "0" "00006" "MC1R_000008" "g.89985918C>R" "4/298 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "D84E" "" "Germline" "" "" "0" "" "" "g.89919510C>R" "" "pathogenic" ""
"0000127914" "1" "33" "16" "89985940" "89985940" "subst" "0.077758" "00006" "MC1R_000005" "g.89985940G>A" "28/298 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "V92M" "" "Germline" "" "" "0" "" "" "g.89919532G>A" "" "likely benign" ""
"0000127915" "1" "95" "16" "89986091" "89986091" "subst" "0.00525794" "00006" "MC1R_000011" "g.89986091G>A" "1/298 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "R142H" "" "Germline" "" "" "0" "" "" "g.89919683G>A" "" "pathogenic" ""
"0000127916" "1" "99" "16" "89986117" "89986117" "subst" "0.0444094" "00006" "MC1R_000003" "g.89986117C>T" "21/298 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "R151C" "" "Germline" "" "" "0" "" "" "g.89919709C>T" "" "pathogenic" ""
"0000127917" "1" "10" "16" "89986130" "89986130" "subst" "0.00556127" "00006" "MC1R_000007" "g.89986130T>C" "3/298 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "I155T" "0/36 chromosomes (red hair)" "Germline" "" "" "0" "" "" "g.89919722T>C" "" "benign" ""
"0000127918" "1" "10" "16" "89986144" "89986144" "subst" "0.047416" "00006" "MC1R_000002" "g.89986144C>T" "20/298 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "R160W" "" "Germline" "" "" "0" "" "" "g.89919736C>T" "" "benign" ""
"0000127919" "1" "10" "16" "89986154" "89986154" "subst" "0.150742" "00006" "MC1R_000012" "g.89986154G>A" "16/298 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "R163Q" "0/36 chromosomes (red hair)" "Germline" "" "" "0" "" "" "g.89919746G>A" "" "benign" ""
"0000127920" "1" "10" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "7/298 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000127921" "1" "10" "16" "89985844" "89985844" "subst" "0.0849313" "00006" "MC1R_000013" "g.89985844G>T" "4/36 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "V60L" "" "Germline" "" "" "0" "" "" "g.89919436G>T" "" "benign" ""
"0000127922" "1" "99" "16" "89985918" "89985918" "subst" "0" "00006" "MC1R_000008" "g.89985918C>R" "1/36 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "D84E" "" "Germline" "" "" "0" "" "" "g.89919510C>R" "" "pathogenic" ""
"0000127923" "1" "33" "16" "89985940" "89985940" "subst" "0.077758" "00006" "MC1R_000005" "g.89985940G>A" "1/36 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "V92M" "" "Germline" "" "" "0" "" "" "g.89919532G>A" "" "likely benign" ""
"0000127924" "1" "55" "16" "89985950" "89985950" "subst" "0.000472863" "00006" "MC1R_000014" "g.89985950C>T" "1/36 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "T95M" "0/298 chromosomes (non-red hair)" "Germline" "" "" "0" "" "" "g.89919542C>T" "" "VUS" ""
"0000127925" "1" "95" "16" "89986091" "89986091" "subst" "0.00525794" "00006" "MC1R_000011" "g.89986091G>A" "1/36 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "R142H" "" "Germline" "" "" "0" "" "" "g.89919683G>A" "" "pathogenic" ""
"0000127926" "1" "99" "16" "89986117" "89986117" "subst" "0.0444094" "00006" "MC1R_000003" "g.89986117C>T" "12/36 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "R151C" "" "Germline" "" "" "0" "" "" "g.89919709C>T" "" "pathogenic" ""
"0000127927" "1" "10" "16" "89986144" "89986144" "subst" "0.047416" "00006" "MC1R_000002" "g.89986144C>T" "9/36 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "R160W" "" "Germline" "" "" "0" "" "" "g.89919736C>T" "" "benign" ""
"0000127928" "1" "10" "16" "89986546" "89986546" "subst" "0.00910346" "00006" "MC1R_000001" "g.89986546G>C" "5/36 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "D294H" "" "Germline" "" "" "0" "" "" "g.89920138G>C" "" "benign (recessive)" ""
"0000127929" "1" "99" "16" "89986203" "89986203" "dup" "0" "00006" "MC1R_000009" "g.89986203dup" "1/36 chromosomes" "{PMID:Flanagan 2000:11030758}" "" "537insC" "0/298 chromosomes (non-red hair)" "Germline" "" "" "0" "" "" "g.89919795dup" "" "pathogenic" ""
"0000279612" "0" "30" "16" "89985654" "89985654" "subst" "0.000534474" "02330" "MC1R_000020" "g.89985654C>T" "" "" "" "MC1R(NM_002386.4):c.-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919246C>T" "" "likely benign" ""
"0000279613" "0" "10" "16" "89985844" "89985844" "subst" "0.0849313" "02330" "MC1R_000013" "g.89985844G>T" "" "" "" "MC1R(NM_002386.4):c.178G>T (p.V60L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919436G>T" "" "benign" ""
"0000279614" "0" "10" "16" "89985940" "89985940" "subst" "0.077758" "02330" "MC1R_000005" "g.89985940G>A" "" "" "" "MC1R(NM_002386.4):c.274G>A (p.V92M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919532G>A" "" "benign" ""
"0000279615" "0" "10" "16" "89985950" "89985950" "subst" "0.000472863" "02330" "MC1R_000014" "g.89985950C>T" "" "" "" "MC1R(NM_002386.3):c.284C>T (p.T95M, p.(Thr95Met)), MC1R(NM_002386.4):c.284C>T (p.T95M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919542C>T" "" "benign" ""
"0000279616" "0" "50" "16" "89985976" "89985976" "subst" "0.000126932" "02330" "MC1R_000022" "g.89985976G>A" "" "" "" "MC1R(NM_002386.4):c.310G>A (p.G104S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919568G>A" "" "VUS" ""
"0000279617" "0" "50" "16" "89986058" "89986058" "subst" "6.2204E-5" "02330" "MC1R_000023" "g.89986058G>A" "" "" "" "MC1R(NM_002386.4):c.392G>A (p.S131N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919650G>A" "" "VUS" ""
"0000279618" "0" "10" "16" "89986065" "89986065" "subst" "0.000672534" "02330" "MC1R_000024" "g.89986065C>T" "" "" "" "MC1R(NM_002386.4):c.399C>T (p.C133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919657C>T" "" "benign" ""
"0000279619" "0" "30" "16" "89986091" "89986091" "subst" "0.00525794" "02330" "MC1R_000011" "g.89986091G>A" "" "" "" "MC1R(NM_002386.3):c.425G>A (p.R142H), MC1R(NM_002386.4):c.425G>A (p.R142H, p.(Arg142His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919683G>A" "" "likely benign" ""
"0000279620" "0" "10" "16" "89986117" "89986117" "subst" "0.0444094" "02330" "MC1R_000003" "g.89986117C>T" "" "" "" "MC1R(NM_002386.3):c.451C>T (p.(Arg151Cys)), MC1R(NM_002386.4):c.451C>T (p.R151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919709C>T" "" "benign" ""
"0000279621" "0" "50" "16" "89986119" "89986119" "subst" "0.000692931" "02330" "MC1R_000025" "g.89986119C>G" "" "" "" "MC1R(NM_002386.4):c.453C>G (p.R151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919711C>G" "" "VUS" ""
"0000279622" "0" "10" "16" "89986144" "89986144" "subst" "0.047416" "02330" "MC1R_000002" "g.89986144C>T" "" "" "" "MC1R(NM_002386.4):c.478C>T (p.R160W, p.(Arg160Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919736C>T" "" "benign" ""
"0000279623" "0" "10" "16" "89986197" "89986197" "subst" "0.000475269" "02330" "MC1R_000026" "g.89986197G>A" "" "" "" "MC1R(NM_002386.4):c.531G>A (p.T177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919789G>A" "" "benign" ""
"0000279624" "0" "50" "16" "89986318" "89986318" "subst" "0.000204245" "02330" "MC1R_000027" "g.89986318G>A" "" "" "" "MC1R(NM_002386.4):c.652G>A (p.A218T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919910G>A" "" "VUS" ""
"0000279625" "0" "50" "16" "89986328" "89986328" "subst" "1.24615E-5" "02330" "MC1R_000028" "g.89986328T>C" "" "" "" "MC1R(NM_002386.4):c.662T>C (p.I221T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919920T>C" "" "VUS" ""
"0000279626" "0" "10" "16" "89986422" "89986422" "subst" "0" "02330" "MC1R_000030" "g.89986422C>T" "" "" "" "MC1R(NM_002386.4):c.756C>T (p.L252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89920014C>T" "" "benign" ""
"0000279627" "0" "10" "16" "89986458" "89986458" "subst" "0.00236859" "02330" "MC1R_000031" "g.89986458C>T" "" "" "" "MC1R(NM_002386.3):c.792C>T (p.I264=), MC1R(NM_002386.4):c.792C>T (p.I264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89920050C>T" "" "benign" ""
"0000279628" "0" "30" "16" "89986614" "89986614" "subst" "0.00171261" "02330" "MC1R_000034" "g.89986614C>T" "" "" "" "MC1R(NM_002386.3):c.948C>T (p.S316=), MC1R(NM_002386.4):c.948C>T (p.S316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89920206C>T" "" "likely benign" ""
"0000291588" "0" "30" "16" "89985950" "89985950" "subst" "0.000472863" "01943" "MC1R_000014" "g.89985950C>T" "" "" "" "MC1R(NM_002386.3):c.284C>T (p.T95M, p.(Thr95Met)), MC1R(NM_002386.4):c.284C>T (p.T95M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919542C>T" "" "likely benign" ""
"0000291589" "0" "30" "16" "89986091" "89986091" "subst" "0.00525794" "01943" "MC1R_000011" "g.89986091G>A" "" "" "" "MC1R(NM_002386.3):c.425G>A (p.R142H), MC1R(NM_002386.4):c.425G>A (p.R142H, p.(Arg142His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919683G>A" "" "likely benign" ""
"0000291590" "0" "10" "16" "89986365" "89986365" "subst" "0.00449357" "01943" "MC1R_000029" "g.89986365G>A" "" "" "" "MC1R(NM_002386.3):c.699G>A (p.Q233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919957G>A" "" "benign" ""
"0000325073" "0" "50" "16" "89985913" "89985913" "subst" "0.000980416" "01804" "MC1R_000021" "g.89985913T>C" "" "" "" "MC1R(NM_002386.3):c.247T>C (p.(Ser83Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89919505T>C" "" "VUS" ""
"0000325074" "0" "50" "16" "89986481" "89986481" "subst" "7.31113E-5" "01804" "MC1R_000032" "g.89986481C>T" "" "" "" "MC1R(NM_002386.3):c.815C>T (p.(Thr272Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89920073C>T" "" "VUS" ""
"0000336581" "3" "30" "16" "89985940" "89985940" "subst" "4.07302E-6" "00006" "MC1R_000017" "g.89985940G>C" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919532G>C" "" "likely benign" ""
"0000336582" "1" "70" "16" "89986117" "89986117" "subst" "0.0444094" "00006" "MC1R_000003" "g.89986117C>T" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919709C>T" "" "association" ""
"0000336583" "1" "70" "16" "89986117" "89986117" "subst" "0.0444094" "00006" "MC1R_000003" "g.89986117C>T" "1/33 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919709C>T" "" "association" ""
"0000336584" "1" "70" "16" "89986144" "89986144" "subst" "0.047416" "00006" "MC1R_000002" "g.89986144C>T" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919736C>T" "" "association" ""
"0000336585" "1" "30" "16" "89985940" "89985940" "subst" "0.077758" "00006" "MC1R_000005" "g.89985940G>A" "1/25 cases" "{PMID:Box 1997:9302268}" "" "" "" "Germline" "" "" "0" "" "" "g.89919532G>A" "" "likely benign" ""
"0000560007" "0" "50" "16" "89985733" "89985733" "subst" "0.000302287" "02330" "MC1R_000037" "g.89985733C>T" "" "" "" "MC1R(NM_002386.4):c.67C>T (p.Q23*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919325C>T" "" "VUS" ""
"0000560008" "0" "50" "16" "89985752" "89985752" "dup" "0" "01804" "MC1R_000004" "g.89985752dup" "" "" "" "MC1R(NM_002386.3):c.86dup (p.(Asn29Lysfs*14)), MC1R(NM_002386.3):c.86dupA (p.N29Kfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919344dup" "" "VUS" ""
"0000560009" "0" "50" "16" "89985752" "89985752" "dup" "0" "01943" "MC1R_000004" "g.89985752dup" "" "" "" "MC1R(NM_002386.3):c.86dup (p.(Asn29Lysfs*14)), MC1R(NM_002386.3):c.86dupA (p.N29Kfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919344dup" "" "VUS" ""
"0000560010" "0" "50" "16" "89985778" "89985778" "subst" "0.000403328" "01804" "MC1R_000038" "g.89985778G>A" "" "" "" "MC1R(NM_002386.3):c.112G>A (p.(Val38Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919370G>A" "" "VUS" ""
"0000560011" "0" "30" "16" "89985918" "89985918" "subst" "0.00527699" "01804" "MC1R_000039" "g.89985918C>A" "" "" "" "MC1R(NM_002386.3):c.252C>A (p.(Asp84Glu)), MC1R(NM_002386.4):c.252C>A (p.D84E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919510C>A" "" "likely benign" ""
"0000560012" "0" "30" "16" "89985999" "89985999" "subst" "0.000785911" "01943" "MC1R_000040" "g.89985999G>A" "" "" "" "MC1R(NM_002386.3):c.333G>A (p.A111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919591G>A" "" "likely benign" ""
"0000560013" "0" "50" "16" "89986081" "89986081" "subst" "1.24921E-5" "01943" "MC1R_000041" "g.89986081G>A" "" "" "" "MC1R(NM_002386.3):c.415G>A (p.A139T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919673G>A" "" "VUS" ""
"0000560014" "0" "30" "16" "89986091" "89986091" "subst" "0.00525794" "01804" "MC1R_000011" "g.89986091G>A" "" "" "" "MC1R(NM_002386.3):c.425G>A (p.R142H), MC1R(NM_002386.4):c.425G>A (p.R142H, p.(Arg142His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919683G>A" "" "likely benign" ""
"0000560015" "0" "50" "16" "89986111" "89986111" "subst" "6.67835E-5" "01943" "MC1R_000042" "g.89986111G>A" "" "" "" "MC1R(NM_002386.3):c.445G>A (p.A149T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919703G>A" "" "VUS" ""
"0000560016" "0" "30" "16" "89986117" "89986117" "subst" "0.0444094" "01804" "MC1R_000003" "g.89986117C>T" "" "" "" "MC1R(NM_002386.3):c.451C>T (p.(Arg151Cys)), MC1R(NM_002386.4):c.451C>T (p.R151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919709C>T" "" "likely benign" ""
"0000560018" "0" "50" "16" "89986133" "89986133" "subst" "4.18557E-5" "01943" "MC1R_000044" "g.89986133T>C" "" "" "" "MC1R(NM_002386.3):c.467T>C (p.V156A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919725T>C" "" "VUS" ""
"0000560019" "0" "30" "16" "89986163" "89986163" "subst" "0.000284686" "01804" "MC1R_000045" "g.89986163C>G" "" "" "" "MC1R(NM_002386.3):c.497C>G (p.(Ala166Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919755C>G" "" "likely benign" ""
"0000560020" "0" "10" "16" "89986221" "89986221" "subst" "0.000248492" "02330" "MC1R_000046" "g.89986221C>T" "" "" "" "MC1R(NM_002386.4):c.555C>T (p.H185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919813C>T" "" "benign" ""
"0000560021" "0" "30" "16" "89986459" "89986459" "subst" "4.46878E-5" "01943" "MC1R_000047" "g.89986459G>A" "" "" "" "MC1R(NM_002386.3):c.793G>A (p.V265I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89920051G>A" "" "likely benign" ""
"0000560024" "0" "50" "16" "89986617" "89986617" "subst" "1.62786E-5" "01943" "MC1R_000048" "g.89986617G>T" "" "" "" "MC1R(NM_002386.3):c.951G>T (p.W317C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89920209G>T" "" "VUS" ""
"0000616297" "0" "30" "16" "89986000" "89986000" "subst" "1.64555E-5" "01943" "MC1R_000049" "g.89986000G>A" "" "" "" "MC1R(NM_002386.3):c.334G>A (p.V112M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919592G>A" "" "likely benign" ""
"0000623591" "0" "90" "16" "89986122" "89986122" "subst" "0.000805798" "01943" "MC1R_000050" "g.89986122C>A" "" "" "" "MC1R(NM_002386.3):c.456C>A (p.Y152*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919714C>A" "" "pathogenic" ""
"0000649462" "1" "10" "16" "89985844" "89985844" "subst" "0.0849313" "03575" "MC1R_000013" "g.89985844G>T" "33/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 heterozygous, no homozygous; {DB:CLININrs1805005}" "Germline" "" "rs1805005" "0" "" "" "g.89919436G>T" "" "benign" ""
"0000649463" "1" "10" "16" "89985940" "89985940" "subst" "0.077758" "03575" "MC1R_000005" "g.89985940G>A" "123/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "123 heterozygous; {DB:CLININrs2228479}" "Germline" "" "rs2228479" "0" "" "" "g.89919532G>A" "" "benign" ""
"0000649464" "1" "50" "16" "89986144" "89986144" "subst" "0.047416" "03575" "MC1R_000002" "g.89986144C>T" "39/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 39 heterozygous; {DB:CLININrs1805008}" "Germline" "" "rs1805008" "0" "" "" "g.89919736C>T" "" "VUS" ""
"0000658010" "0" "30" "16" "89985950" "89985950" "subst" "0.000472863" "01804" "MC1R_000014" "g.89985950C>T" "" "" "" "MC1R(NM_002386.3):c.284C>T (p.T95M, p.(Thr95Met)), MC1R(NM_002386.4):c.284C>T (p.T95M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89919542C>T" "" "likely benign" ""
"0000669369" "3" "10" "16" "89985940" "89985940" "subst" "0.077758" "03575" "MC1R_000005" "g.89985940G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs2228479}" "Germline" "" "rs2228479" "0" "" "" "g.89919532G>A" "" "benign" ""
"0000669370" "3" "50" "16" "89986144" "89986144" "subst" "0.047416" "03575" "MC1R_000002" "g.89986144C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs1805008}" "Germline" "" "rs1805008" "0" "" "" "g.89919736C>T" "" "VUS" ""
"0000680755" "0" "50" "16" "89986181" "89986181" "subst" "0.000692612" "01943" "MC1R_000051" "g.89986181G>T" "" "" "" "MC1R(NM_002386.3):c.515G>T (p.S172I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000807747" "0" "30" "16" "89986614" "89986614" "subst" "0.00171261" "01943" "MC1R_000034" "g.89986614C>T" "" "" "" "MC1R(NM_002386.3):c.948C>T (p.S316=), MC1R(NM_002386.4):c.948C>T (p.S316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854723" "0" "30" "16" "89986458" "89986458" "subst" "0.00236859" "01943" "MC1R_000031" "g.89986458C>T" "" "" "" "MC1R(NM_002386.3):c.792C>T (p.I264=), MC1R(NM_002386.4):c.792C>T (p.I264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865035" "0" "50" "16" "89985845" "89985845" "subst" "0" "01943" "MC1R_000052" "g.89985845T>C" "" "" "" "MC1R(NM_002386.3):c.179T>C (p.V60A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000893300" "0" "30" "16" "89985918" "89985918" "subst" "0.00527699" "02330" "MC1R_000039" "g.89985918C>A" "" "" "" "MC1R(NM_002386.3):c.252C>A (p.(Asp84Glu)), MC1R(NM_002386.4):c.252C>A (p.D84E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001041533" "0" "10" "16" "89986130" "89986130" "subst" "0.00556127" "01804" "MC1R_000007" "g.89986130T>C" "" "" "" "MC1R(NM_002386.4):c.464T>C (p.(Ile155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001041534" "0" "30" "16" "89986144" "89986144" "subst" "0.047416" "01804" "MC1R_000002" "g.89986144C>T" "" "" "" "MC1R(NM_002386.4):c.478C>T (p.R160W, p.(Arg160Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001066584" "0" "30" "16" "89986130" "89986130" "subst" "0.00556127" "02325" "MC1R_000007" "g.89986130T>C" "" "" "" "MC1R(NM_002386.4):c.464T>C (p.(Ile155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001068299" "0" "30" "16" "89986130" "89986130" "subst" "0.00556127" "03779" "MC1R_000007" "g.89986130T>C" "" "" "" "" "" "Unknown" "" "rs1110400" "0" "" "" "" "" "likely benign" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes MC1R
## Count = 149
"{{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}}"
"0000119751" "00011884" "90" "86" "0" "86" "0" "c.86dup" "r.(?)" "p.(Asn29Lysfs*14)" "1"
"0000119752" "00011884" "90" "537" "0" "537" "0" "c.537dup" "r.(?)" "p.(Ile180Hisfs*59)" "1"
"0000119753" "00011884" "90" "537" "0" "537" "0" "c.537dup" "r.(?)" "p.(Ile180Hisfs*59)" "1"
"0000119754" "00011884" "90" "86" "0" "86" "0" "c.86dup" "r.(?)" "p.(Asn29Lysfs*14)" "1"
"0000119771" "00011884" "10" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Val60Leu)" "1"
"0000119773" "00011884" "10" "195" "0" "195" "0" "c.195G>T" "r.(?)" "p.(Lys65Asn)" "1"
"0000119775" "00011884" "10" "252" "0" "252" "0" "c.252C>R" "r.(?)" "p.(Asp84Glu)" "1"
"0000119776" "00011884" "10" "274" "0" "274" "0" "c.274G>C" "r.(?)" "p.(Val92Leu)" "1"
"0000119783" "00011884" "10" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "1"
"0000119786" "00011884" "70" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "1"
"0000119787" "00011884" "10" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Ile155Thr)" "1"
"0000119788" "00011884" "70" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "1"
"0000119789" "00011884" "10" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "1"
"0000119790" "00011884" "30" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119792" "00011884" "10" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Ala299Thr)" "1"
"0000119868" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119869" "00011884" "99" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "1"
"0000119870" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119871" "00011884" "99" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "1"
"0000119872" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119873" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119874" "00011884" "99" "86" "0" "86" "0" "c.86dup" "r.(?)" "p.(Asn29Lysfs*14)" "1"
"0000119875" "00011884" "99" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "1"
"0000119876" "00011884" "33" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" "1"
"0000119877" "00011884" "11" "942" "0" "942" "0" "c.942A>B" "r.(=)" "p.(Thr314=)" "1"
"0000119878" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119879" "00011884" "11" "942" "0" "942" "0" "c.942A>B" "r.(=)" "p.(Thr314=)" "1"
"0000119880" "00011884" "33" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Ile155Thr)" "1"
"0000119881" "00011884" "99" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "1"
"0000119882" "00011884" "99" "252" "0" "252" "0" "c.252C>R" "r.(?)" "p.(Asp84Glu)" "1"
"0000119883" "00011884" "99" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "1"
"0000119884" "00011884" "99" "537" "0" "537" "0" "c.537dup" "r.(?)" "p.(Ile180Hisfs*59)" "1"
"0000119885" "00011884" "99" "537" "0" "537" "0" "c.537dup" "r.(?)" "p.(Ile180Hisfs*59)" "1"
"0000119886" "00011884" "99" "252" "0" "252" "0" "c.252C>R" "r.(?)" "p.(Asp84Glu)" "1"
"0000119887" "00011884" "99" "178" "0" "178" "0" "c.178G>Y" "r.(?)" "p.(Val60Leu)" "1"
"0000119888" "00011884" "99" "537" "0" "537" "0" "c.537dup" "r.(?)" "p.(Ile180Hisfs*59)" "1"
"0000119889" "00011884" "99" "178" "0" "178" "0" "c.178G>Y" "r.(?)" "p.(Val60Leu)" "1"
"0000119890" "00011884" "99" "252" "0" "252" "0" "c.252C>R" "r.(?)" "p.(Asp84Glu)" "1"
"0000119891" "00011884" "99" "537" "0" "537" "0" "c.537dup" "r.(?)" "p.(Ile180Hisfs*59)" "1"
"0000119892" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119893" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119894" "00011884" "95" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "1"
"0000119895" "00011884" "99" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "1"
"0000119896" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119897" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119898" "00011884" "99" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "1"
"0000119899" "00011884" "99" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "1"
"0000119900" "00011884" "99" "178" "0" "178" "0" "c.178G>Y" "r.(?)" "p.(Val60Leu)" "1"
"0000119901" "00011884" "99" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "1"
"0000119902" "00011884" "95" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "1"
"0000119903" "00011884" "99" "178" "0" "178" "0" "c.178G>Y" "r.(?)" "p.(Val60Leu)" "1"
"0000119904" "00011884" "95" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "1"
"0000119905" "00011884" "95" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "1"
"0000119906" "00011884" "35" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "1"
"0000119907" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119908" "00011884" "33" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" "1"
"0000119909" "00011884" "11" "942" "0" "942" "0" "c.942A>B" "r.(=)" "p.(Thr314=)" "1"
"0000119910" "00011884" "11" "942" "0" "942" "0" "c.942A>B" "r.(=)" "p.(Thr314=)" "1"
"0000119911" "00011884" "33" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" "1"
"0000119912" "00011884" "99" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "1"
"0000119913" "00011884" "95" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "1"
"0000119914" "00011884" "11" "942" "0" "942" "0" "c.942A>B" "r.(=)" "p.(Thr314=)" "1"
"0000119915" "00011884" "33" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" "1"
"0000119916" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000119917" "00011884" "35" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "1"
"0000127900" "00011884" "99" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "1"
"0000127901" "00011884" "99" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "1"
"0000127902" "00011884" "99" "537" "0" "537" "0" "c.537dup" "r.(?)" "p.(Ile180Hisfs*59)" "1"
"0000127903" "00011884" "99" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "1"
"0000127904" "00011884" "99" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000127905" "00011884" "99" "86" "0" "86" "0" "c.86dup" "r.(?)" "p.(Asn29Lysfs*14)" "1"
"0000127906" "00011884" "77" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Val60Leu)" "1"
"0000127912" "00011884" "10" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Val60Leu)" "1"
"0000127913" "00011884" "99" "252" "0" "252" "0" "c.252C>R" "r.(?)" "p.(Asp84Glu)" "1"
"0000127914" "00011884" "33" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" "1"
"0000127915" "00011884" "95" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "1"
"0000127916" "00011884" "99" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "1"
"0000127917" "00011884" "10" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Ile155Thr)" "1"
"0000127918" "00011884" "10" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "1"
"0000127919" "00011884" "10" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "1"
"0000127920" "00011884" "10" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000127921" "00011884" "10" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Val60Leu)" "1"
"0000127922" "00011884" "99" "252" "0" "252" "0" "c.252C>R" "r.(?)" "p.(Asp84Glu)" "1"
"0000127923" "00011884" "33" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" "1"
"0000127924" "00011884" "55" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" "1"
"0000127925" "00011884" "95" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "1"
"0000127926" "00011884" "99" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "1"
"0000127927" "00011884" "10" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "1"
"0000127928" "00011884" "10" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Asp294His)" "1"
"0000127929" "00011884" "99" "537" "0" "537" "0" "c.537dup" "r.(?)" "p.(Ile180Hisfs*59)" "1"
"0000279612" "00011884" "30" "-13" "0" "-13" "0" "c.-13C>T" "r.(?)" "p.(=)" ""
"0000279613" "00011884" "10" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Val60Leu)" ""
"0000279614" "00011884" "10" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" ""
"0000279615" "00011884" "10" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" ""
"0000279616" "00011884" "50" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Gly104Ser)" ""
"0000279617" "00011884" "50" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Ser131Asn)" ""
"0000279618" "00011884" "10" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Cys133=)" ""
"0000279619" "00011884" "30" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" ""
"0000279620" "00011884" "10" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" ""
"0000279621" "00011884" "50" "453" "0" "453" "0" "c.453C>G" "r.(?)" "p.(Arg151=)" ""
"0000279622" "00011884" "10" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" ""
"0000279623" "00011884" "10" "531" "0" "531" "0" "c.531G>A" "r.(?)" "p.(Thr177=)" ""
"0000279624" "00011884" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Ala218Thr)" ""
"0000279625" "00011884" "50" "662" "0" "662" "0" "c.662T>C" "r.(?)" "p.(Ile221Thr)" ""
"0000279626" "00011884" "10" "756" "0" "756" "0" "c.756C>T" "r.(?)" "p.(Leu252=)" ""
"0000279627" "00011884" "10" "792" "0" "792" "0" "c.792C>T" "r.(?)" "p.(Ile264=)" ""
"0000279628" "00011884" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(Ser316=)" ""
"0000291588" "00011884" "30" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" ""
"0000291589" "00011884" "30" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" ""
"0000291590" "00011884" "10" "699" "0" "699" "0" "c.699G>A" "r.(?)" "p.(Gln233=)" ""
"0000325073" "00011884" "50" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Ser83Pro)" "1"
"0000325074" "00011884" "50" "815" "0" "815" "0" "c.815C>T" "r.(?)" "p.(Thr272Met)" "1"
"0000336581" "00011884" "30" "274" "0" "274" "0" "c.274G>C" "r.(?)" "p.(Val92Leu)" "1"
"0000336582" "00011884" "70" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "1"
"0000336583" "00011884" "70" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "1"
"0000336584" "00011884" "70" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" "1"
"0000336585" "00011884" "30" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" "1"
"0000560007" "00011884" "50" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Gln23Ter)" ""
"0000560008" "00011884" "50" "86" "0" "86" "0" "c.86dup" "r.(?)" "p.(Asn29LysfsTer14)" ""
"0000560009" "00011884" "50" "86" "0" "86" "0" "c.86dup" "r.(?)" "p.(Asn29LysfsTer14)" ""
"0000560010" "00011884" "50" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Val38Met)" ""
"0000560011" "00011884" "30" "252" "0" "252" "0" "c.252C>A" "r.(?)" "p.(Asp84Glu)" ""
"0000560012" "00011884" "30" "333" "0" "333" "0" "c.333G>A" "r.(?)" "p.(Ala111=)" ""
"0000560013" "00011884" "50" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Ala139Thr)" ""
"0000560014" "00011884" "30" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" ""
"0000560015" "00011884" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Ala149Thr)" ""
"0000560016" "00011884" "30" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" ""
"0000560018" "00011884" "50" "467" "0" "467" "0" "c.467T>C" "r.(?)" "p.(Val156Ala)" ""
"0000560019" "00011884" "30" "497" "0" "497" "0" "c.497C>G" "r.(?)" "p.(Ala166Gly)" ""
"0000560020" "00011884" "10" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(His185=)" ""
"0000560021" "00011884" "30" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Val265Ile)" ""
"0000560024" "00011884" "50" "951" "0" "951" "0" "c.951G>T" "r.(?)" "p.(Trp317Cys)" ""
"0000616297" "00011884" "30" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Val112Met)" ""
"0000623591" "00011884" "90" "456" "0" "456" "0" "c.456C>A" "r.(?)" "p.(Tyr152Ter)" ""
"0000649462" "00011884" "10" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Val60Leu)" ""
"0000649463" "00011884" "10" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" ""
"0000649464" "00011884" "50" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" ""
"0000658010" "00011884" "30" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" ""
"0000669369" "00011884" "10" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" ""
"0000669370" "00011884" "50" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" ""
"0000680755" "00011884" "50" "515" "0" "515" "0" "c.515G>T" "r.(?)" "p.(Ser172Ile)" ""
"0000807747" "00011884" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(Ser316=)" ""
"0000854723" "00011884" "30" "792" "0" "792" "0" "c.792C>T" "r.(?)" "p.(Ile264=)" ""
"0000865035" "00011884" "50" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Val60Ala)" ""
"0000893300" "00011884" "30" "252" "0" "252" "0" "c.252C>A" "r.(?)" "p.(Asp84Glu)" ""
"0001041533" "00011884" "10" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Ile155Thr)" ""
"0001041534" "00011884" "30" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Trp)" ""
"0001066584" "00011884" "30" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Ile155Thr)" ""
"0001068299" "00011884" "30" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Ile155Thr)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 93
"{{screeningid}}" "{{variantid}}"
"0000074697" "0000119751"
"0000074697" "0000119752"
"0000074698" "0000119753"
"0000074699" "0000119754"
"0000074711" "0000119771"
"0000074713" "0000119773"
"0000074713" "0000336581"
"0000074713" "0000336582"
"0000074714" "0000119775"
"0000074715" "0000119776"
"0000074715" "0000336583"
"0000074720" "0000119783"
"0000074723" "0000119786"
"0000074724" "0000119787"
"0000074725" "0000119788"
"0000074726" "0000119789"
"0000074727" "0000119790"
"0000074727" "0000336585"
"0000074729" "0000119792"
"0000074729" "0000336584"
"0000074795" "0000119868"
"0000074795" "0000119869"
"0000074796" "0000119870"
"0000074796" "0000119871"
"0000074797" "0000119872"
"0000074798" "0000119873"
"0000074798" "0000119874"
"0000074799" "0000119875"
"0000074799" "0000119876"
"0000074799" "0000119877"
"0000074800" "0000119878"
"0000074800" "0000119879"
"0000074800" "0000119880"
"0000074801" "0000119881"
"0000074801" "0000119882"
"0000074802" "0000119883"
"0000074802" "0000119884"
"0000074803" "0000119885"
"0000074803" "0000119886"
"0000074804" "0000119887"
"0000074804" "0000119888"
"0000074805" "0000119889"
"0000074805" "0000119890"
"0000074806" "0000119891"
"0000074807" "0000119892"
"0000074808" "0000119893"
"0000074808" "0000119894"
"0000074809" "0000119895"
"0000074809" "0000119896"
"0000074810" "0000119897"
"0000074810" "0000119898"
"0000074811" "0000119899"
"0000074811" "0000119900"
"0000074812" "0000119901"
"0000074812" "0000119902"
"0000074813" "0000119903"
"0000074813" "0000119904"
"0000074814" "0000119905"
"0000074814" "0000119906"
"0000074815" "0000119907"
"0000074815" "0000119908"
"0000074815" "0000119909"
"0000074816" "0000119910"
"0000074816" "0000119911"
"0000074816" "0000119912"
"0000074817" "0000119913"
"0000074817" "0000119914"
"0000074817" "0000119915"
"0000074818" "0000119916"
"0000074818" "0000119917"
"0000079275" "0000127912"
"0000079276" "0000127913"
"0000079277" "0000127914"
"0000079278" "0000127915"
"0000079279" "0000127916"
"0000079280" "0000127917"
"0000079281" "0000127918"
"0000079282" "0000127919"
"0000079283" "0000127920"
"0000079284" "0000127921"
"0000079285" "0000127922"
"0000079286" "0000127923"
"0000079287" "0000127924"
"0000079288" "0000127925"
"0000079289" "0000127926"
"0000079290" "0000127927"
"0000079291" "0000127928"
"0000079292" "0000127929"
"0000292773" "0000649462"
"0000292774" "0000649463"
"0000292775" "0000649464"
"0000305681" "0000669369"
"0000305682" "0000669370"