### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SLC22A5)
# 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}}"
"SLC22A5"	"solute carrier family 22 member 5"	"5"	"q31.1"	"no"	"NC_000005.9"	"UD_144477940618"	""	""	""	"1"	"10969"	"6584"	"603377"	"0"	"0"	"0"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00006"	"2021-12-08 00:00:00"	"00006"	"2023-01-22 17:53:05"	"00006"	"2023-06-30 22:46:47"


## 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}}"
"00000134"	"SLC22A5"	"solute carrier family 22 (organic cation/carnitine transporter), member 5"	"002"	"NM_003060.3"	""	"NP_003051.1"	""	""	""	"-264"	"3016"	"1674"	"131705401"	"131731306"	"00006"	"2021-12-08 12:38:07"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00007"	"PCD"	"Carnitine deficiency, systemic primary"	""	"212140"	"heart muscle;skeletal muscle"	"Primary systemic carnitine deficiency is due to a defect in the high-affinity carnitine transporter expressed in muscle, heart, kidney, lymphoblasts, and fibroblasts. This results in impaired fatty acid oxidation in skeletal and heart muscle. In addition, renal wasting of carnitine results in low serum levels and diminished hepatic uptake of carnitine by passive diffusion, which impairs ketogenesis . If diagnosed early, all clinical manifestations of the disorder can be completely reversed by supplementation of carnitine. However, if left untreated, patients will develop lethal heart failure"	""	"00006"	"2021-12-08 11:08:15"	""	""
"00019"	"WD"	"wilson disease"	"AR"	"277900"	"brain"	"liver dysfunction, neurological features (like tremor,  parkinsonism, dystornia, etc.), Kayser-Fleischer rings, chondrocalcinosis and osteoarthritis..."	"low ceruloplasmin, Kayser-Fleischer rings, abnormalities of the basal ganglia..."	"00009"	"2023-08-21 15:46:32"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"SLC22A5"	"00007"
"SLC22A5"	"00019"


## Individuals ## Do not remove or alter this header ##
## Count = 0


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00007, 00019
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 0


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0


## 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 = 103
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Type}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/classclinical}}"
"0000016128"	"0"	"99"	"5"	"131705665"	"131705665"	"subst"	""	"00006"	"SLC22A5_000001"	"g.131705665A>G"	"1/667"	""	"Substitution"	""	""
"0000016129"	"0"	"99"	"5"	"131705667"	"131705667"	"subst"	""	"00006"	"SLC22A5_000002"	"g.131705667G>T"	"3/667"	""	"Substitution"	""	""
"0000016130"	"0"	"77"	"5"	"131705701"	"131705701"	"subst"	""	"00006"	"SLC22A5_000003"	"g.131705701G>T"	"1/667"	"{PMID:Yao Chen et al. (2021):33560599}"	"Substitution"	""	""
"0000016131"	"0"	"55"	"5"	"131705704"	"131705704"	"subst"	""	"00006"	"SLC22A5_000004"	"g.131705704T>A"	"1/667"	""	"Substitution"	""	""
"0000016132"	"0"	"77"	"5"	"131705706"	"131705706"	"subst"	""	"00006"	"SLC22A5_000005"	"g.131705706G>A"	"1/667"	""	"Substitution"	""	""
"0000016133"	"0"	"99"	"5"	"131705715"	"131705715"	"subst"	""	"00006"	"SLC22A5_000006"	"g.131705715C>G"	"122/667"	""	"Substitution"	""	""
"0000016134"	"0"	"55"	"5"	"131705731"	"131705733"	"del"	""	"00006"	"SLC22A5_000007"	"g.131705731_131705733del"	"1/667"	""	"Deletion"	""	""
"0000016135"	"0"	"77"	"5"	"131705759"	"131705759"	"subst"	""	"00006"	"SLC22A5_000008"	"g.131705759A>G"	"5/667"	"{PMID:Xiaole Li et al. (2019):31813139}"	"Substitution"	""	""
"0000016136"	"0"	"55"	"5"	"131705783"	"131705783"	"subst"	""	"00006"	"SLC22A5_000009"	"g.131705783T>G"	"1/667"	"{PMID:Xiaole Li et al. (2019):31813139}"	"Substitution"	""	""
"0000016137"	"0"	"55"	"5"	"131705795"	"131705795"	"subst"	""	"00006"	"SLC22A5_000010"	"g.131705795C>A"	"1/667"	""	"Substitution"	""	""
"0000016138"	"0"	"55"	"5"	"131705801"	"131705801"	"subst"	""	"00006"	"SLC22A5_000011"	"g.131705801C>G"	"1/667"	""	"Substitution"	""	""
"0000016139"	"0"	"90"	"5"	"131705801"	"131705801"	"subst"	""	"00006"	"SLC22A5_000012"	"g.131705801C>T"	"1/667"	""	"Substitution"	""	""
"0000016140"	"0"	"55"	"5"	"131705912"	"131705912"	"subst"	""	"00006"	"SLC22A5_000013"	"g.131705912G>T"	"2/667"	""	"Substitution"	""	""
"0000016141"	"0"	"55"	"5"	"131705914"	"131705914"	"subst"	""	"00006"	"SLC22A5_000014"	"g.131705914T>A"	"3/667"	"{PMID:Weihua Lin et al. (2021):33181153}"	"Substitution"	""	""
"0000016142"	"0"	"77"	"5"	"131705916"	"131705929"	"dup"	""	"00006"	"SLC22A5_000015"	"g.131705916_131705929dup14"	"1/667"	"{PMID:Xiaole Li et al. (2019):31813139}"	"Duplication"	""	""
"0000016143"	"0"	"77"	"5"	"131705929"	"131705930"	"ins"	""	"00006"	"SLC22A5_000016"	"g.131705929_131705930insGGCTCGCCACC"	"1/667"	""	"Insertion"	""	""
"0000016144"	"0"	"77"	"5"	"131705952"	"131705952"	"del"	""	"00006"	"SLC22A5_000018"	"g.131705952del"	"1/667"	"{PMID:Xiaoqiang Zhou et al. (2020):33268576}"	"Deletion"	""	""
"0000016145"	"0"	"55"	"5"	"131705972"	"131705972"	"subst"	""	"00006"	"SLC22A5_000019"	"g.131705972T>A"	"1/667"	""	"Substitution"	""	""
"0000016146"	"0"	"99"	"5"	"131706002"	"131706002"	"subst"	""	"00006"	"SLC22A5_000020"	"g.131706002G>A"	"32/667"	"{PMID:Han L et al. (2014):25132046}"	"Substitution"	""	""
"0000016147"	"0"	"77"	"5"	"131706003"	"131706003"	"subst"	""	"00006"	"SLC22A5_000021"	"g.131706003T>A"	"1/667"	""	"Substitution"	""	""
"0000016148"	"0"	"55"	"5"	"131706035"	"131706035"	"subst"	""	"00006"	"SLC22A5_000022"	"g.131706035A>G"	"1/667"	""	"Substitution"	""	""
"0000016149"	"0"	"55"	"5"	"131706062"	"131706062"	"subst"	""	"00006"	"SLC22A5_000023"	"g.131706062G>A"	"1/667"	"{PMID:Han L et al. (2014):25132046}"	"Substitution"	""	""
"0000016150"	"0"	"77"	"5"	"131714069"	"131714069"	"subst"	""	"00006"	"SLC22A5_000024"	"g.131714069G>A"	"1/667"	"{PMID:Weihua Lin et al.(2021):33181153}"	"Substitution"	""	""
"0000016151"	"0"	"77"	"5"	"131714072"	"131714072"	"subst"	""	"00006"	"SLC22A5_000026"	"g.131714072G>A"	"1/667"	"{PMID:Han L et al. (2014):25132046}"	"Substitution"	""	""
"0000016152"	"0"	"55"	"5"	"131714083"	"131714083"	"subst"	""	"00006"	"SLC22A5_000027"	"g.131714083G>A"	"1/667"	""	"Substitution"	""	""
"0000016153"	"0"	"99"	"5"	"131714104"	"131714104"	"subst"	""	"00006"	"SLC22A5_000028"	"g.131714104C>T"	"32/667"	"{PMID:Guoxing Geng et al. (2021):34729741}"	"Substitution"	""	""
"0000016154"	"0"	"55"	"5"	"131714107"	"131714107"	"subst"	""	"00006"	"SLC22A5_000029"	"g.131714107T>C"	"3/667"	"{PMID:Chiju Yang et al.(2021):34704412}"	"Substitution"	""	""
"0000016155"	"0"	"77"	"5"	"131714109"	"131714109"	"dup"	""	"00006"	"SLC22A5_000030"	"g.131714109dupA"	"2/667"	"{PMID:Han L et al. (2014):25132046}"	"Duplication"	""	""
"0000016156"	"0"	"55"	"5"	"131714115"	"131714115"	"subst"	""	"00006"	"SLC22A5_000031"	"g.131714115T>A"	"1/667"	"{PMID:Xiaole li et al.(2019):31813139}"	"Substitution"	""	""
"0000016157"	"0"	"55"	"5"	"131714137"	"131714137"	"subst"	""	"00006"	"SLC22A5_000032"	"g.131714137T>C"	"1/667"	"{PMID:Y L Huang et al. (2020):32521959}"	"Substitution"	""	""
"0000016158"	"0"	"55"	"5"	"131714171"	"131714171"	"subst"	""	"00006"	"SLC22A5_000033"	"g.131714171C>A"	"1/667"	"{PMID:Xiaoqiang Zhou et al. (2020):33268576}"	"Substitution"	""	""
"0000016159"	"0"	"99"	"5"	"131714174"	"131714174"	"subst"	""	"00006"	"SLC22A5_000034"	"g.131714174G>T"	"10/667"	"{PMID:Han L et al. (2014):25132046}"	"Substitution"	""	""
"0000016160"	"0"	"77"	"5"	"131719837"	"131719837"	"subst"	""	"00006"	"SLC22A5_000035"	"g.131719837A>G"	"1/667"	""	"Substitution"	""	""
"0000016161"	"0"	"77"	"5"	"131719846"	"131719846"	"subst"	""	"00006"	"SLC22A5_000036"	"g.131719846C>T"	"6/667"	"{PMID:Han L et al. (2014):25132046}"	"Substitution"	""	""
"0000016162"	"0"	"55"	"5"	"131719847"	"131719847"	"subst"	""	"00006"	"SLC22A5_000037"	"g.131719847G>A"	"1/667"	"{PMID:Yao Chen et al. (2021):33560599}"	"Substitution"	""	""
"0000016163"	"0"	"77"	"5"	"131719848"	"131719848"	"del"	""	"00006"	"SLC22A5_000038"	"g.131719848delG"	"1/667"	""	"Deletion"	""	""
"0000016164"	"0"	"99"	"5"	"131719858"	"131719858"	"del"	""	"00006"	"SLC22A5_000039"	"g.131719858delC"	"5/667"	"{PMID:Chiju Yang et al.(2021):34704412}"	"Deletion"	""	""
"0000016165"	"0"	"55"	"5"	"131719879"	"131719879"	"subst"	""	"00006"	"SLC22A5_000040"	"g.131719879C>G"	"2/667"	"{PMID:Y L Huang et al. (2020):32521959}"	"Substitution"	""	""
"0000016166"	"0"	"55"	"5"	"131719913"	"131719913"	"subst"	""	"00006"	"SLC22A5_000041"	"g.131719913A>G"	"2/667"	"{PMID:Chiju Yang et al.(2021):34704412}"	"Substitution"	""	""
"0000016167"	"0"	"99"	"5"	"131719994"	"131719994"	"subst"	""	"00006"	"SLC22A5_000042"	"g.131719994G>A"	"5/667"	"{PMID:Shuting Wang et al. (2020):32447334}"	"Substitution"	""	""
"0000016168"	"0"	"55"	"5"	"131721047"	"131721047"	"subst"	""	"00006"	"SLC22A5_000043"	"g.131721047G>A"	"2/667"	"{PMID:Kejian Guo et al. (2018):29731766}"	"Substitution"	""	""
"0000016169"	"0"	"77"	"5"	"131721061"	"131721061"	"subst"	""	"00006"	"SLC22A5_000044"	"g.131721061A>G"	"2/667"	"{PMID:Yao Chen et al. (2021):33560599}"	"Substitution"	""	""
"0000016170"	"0"	"99"	"5"	"131721062"	"131721062"	"subst"	""	"00006"	"SLC22A5_000045"	"g.131721062C>T"	"12/667"	"{PMID:Y L Huang et al. (2020):32521959}"	"Substitution"	""	""
"0000016171"	"0"	"51"	"5"	"131721067"	"131721067"	"subst"	""	"00006"	"SLC22A5_000046"	"g.131721067G>C"	"3/667"	"{PMID:Han L et al. (2014):25132046}"	"Substitution"	""	""
"0000016173"	"0"	"77"	"5"	"131721112"	"131721115"	"del"	""	"00006"	"SLC22A5_000047"	"g.131721112_131721115delTTTG"	"1/667"	"{PMID:Han L et al. (2014):25132046}"	"Deletion"	""	""
"0000016174"	"0"	"99"	"5"	"131721127"	"131721127"	"subst"	""	"00006"	"SLC22A5_000048"	"g.131721127C>T"	"49/667"	"{PMID:Xiaole li et al.(2019):31813139}"	"Substitution"	""	""
"0000016175"	"0"	"55"	"5"	"131721128"	"131721128"	"subst"	""	"00006"	"SLC22A5_000049"	"g.131721128G>A"	"1/667"	""	"Substitution"	""	""
"0000016176"	"0"	"55"	"5"	"131721141"	"131721142"	"ins"	""	"00006"	"SLC22A5_000050"	"g.131721141_131721142insTCG"	"1/667"	"{PMID:Xiaoqiang Zhou et al. (2020):33268576}"	"Insertion"	""	""
"0000016177"	"0"	"77"	"5"	"131721149"	"131721166"	"del"	""	"00006"	"SLC22A5_000051"	"g.131721149_131721166del"	"1/667"	"{PMID:Weihua Lin et al.(2021):33181153}"	"Deletion"	""	""
"0000016178"	"0"	"99"	"5"	"131721164"	"131721164"	"subst"	""	"00006"	"SLC22A5_000052"	"g.131721164C>T"	"14/667"	"{PMID:Weihua Lin et al.(2021):33181153}"	"Substitution"	""	""
"0000016179"	"0"	"77"	"5"	"131721189"	"131721189"	"subst"	""	"00006"	"SLC22A5_000053"	"g.131721189G>A"	"1/667"	"{PMID:Weihua Lin et al.(2021):33181153}"	"Substitution"	""	""
"0000016180"	"0"	"77"	"5"	"131721192"	"131721192"	"subst"	""	"00006"	"SLC22A5_000054"	"g.131721192G>A"	"2/667"	"{PMID:Xiaoqiang Zhou et al. (2020):33268576}"	"Substitution"	""	""
"0000016181"	"0"	"55"	"5"	"131722731"	"131722731"	"subst"	""	"00006"	"SLC22A5_000056"	"g.131722731C>T"	"2/667"	"{PMID:Y L Huang et al. (2020):32521959}"	"Substitution"	""	""
"0000016182"	"0"	"77"	"5"	"131722736"	"131722736"	"subst"	""	"00006"	"SLC22A5_000057"	"g.131722736C>T"	"1/667"	"{PMID:Xiaole li et al.(2019):31813139}"	"Substitution"	""	""
"0000016183"	"0"	"55"	"5"	"131722737"	"131722737"	"subst"	""	"00006"	"SLC22A5_000059"	"g.0131722737G>A"	"2/667"	""	"Substitution"	""	""
"0000016184"	"0"	"55"	"5"	"131722743"	"131722743"	"subst"	""	"00006"	"SLC22A5_000060"	"g.131722743T>C"	"1/667"	""	"Substitution"	""	""
"0000016185"	"0"	"99"	"5"	"131722757"	"131722757"	"subst"	""	"00006"	"SLC22A5_000061"	"g.131722757C>T"	"8/667"	"{PMID:Guoxing Geng et al. (2021):34729741}"	"Substitution"	""	""
"0000016186"	"0"	"77"	"5"	"131722788"	"131722788"	"del"	""	"00006"	"SLC22A5_000062"	"g.131722788delA"	"1/667"	""	"Deletion"	""	""
"0000016187"	"0"	"77"	"5"	"131722811"	"131722811"	"del"	""	"00006"	"SLC22A5_000063"	"g.131722811delG"	"1/667"	"{PMID:Jian-Qiang Tan et al.  (2017): 29132460}"	"Deletion"	""	""
"0000016188"	"0"	"77"	"5"	"131724633"	"131724633"	"dup"	""	"00006"	"SLC22A5_000065"	"g.131724633dup"	"1/667"	""	"Duplication"	""	""
"0000016189"	"0"	"77"	"5"	"131724637"	"131724637"	"subst"	""	"00006"	"SLC22A5_000066"	"g.131724637C>T"	"3/667"	"{PMID:Jian-Qiang Tan et al.(2017):29132460}"	"Substitution"	""	""
"0000016190"	"0"	"55"	"5"	"131726414"	"131726414"	"subst"	""	"00006"	"SLC22A5_000069"	"g.131726414C>T"	"2/667"	"{PMID:Y L Huang et al. (2020):32521959}"	"Substitution"	""	""
"0000016191"	"0"	"55"	"5"	"131726450"	"131726450"	"subst"	""	"00006"	"SLC22A5_000070"	"g.131726450T>C"	"1/667"	"{PMID:Xiaole li et al.(2019):31813139}"	"Substitution"	""	""
"0000016192"	"0"	"55"	"5"	"131726455"	"131726455"	"subst"	""	"00006"	"SLC22A5_000071"	"g.131726455T>C"	"1/667"	""	"Substitution"	""	""
"0000016193"	"0"	"55"	"5"	"131726468"	"131726468"	"subst"	""	"00006"	"SLC22A5_000072"	"g.131726468C>T"	"5/667"	"{PMID:Yiming Lin et al.(2021):33757571}"	"Substitution"	""	""
"0000016194"	"0"	"77"	"5"	"131726473"	"131726491"	"del"	""	"00006"	"SLC22A5_000073"	"g.131726473_131726491del"	"1/667"	"{PMID:Yiming Lin et al. (2021):33757571}"	"Deletion"	""	""
"0000016195"	"0"	"55"	"5"	"131726476"	"131726476"	"subst"	""	"00006"	"SLC22A5_000074"	"g.131726476G>A"	"1/667"	""	"Substitution"	""	""
"0000016196"	"0"	"55"	"5"	"131726489"	"131726489"	"subst"	""	"00006"	"SLC22A5_000075"	"g.131726489A>G"	"1/667"	"{PMID:Weihua Lin et al.(2021):33181153}"	"Substitution"	""	""
"0000016197"	"0"	"77"	"5"	"13172649"	"131726490"	"ins"	""	"00006"	"SLC22A5_000076"	"g.131726490_13172649insA"	"1/667"	"{PMID:Xiangchun Yang et al. (2021):34249102}"	"Insertion"	""	""
"0000016198"	"0"	"77"	"5"	"131726490"	"131726490"	"subst"	""	"00006"	"SLC22A5_000077"	"g.131726490T>G"	"3/667"	"{PMID:Guoxing Geng et al. (2021):34729741}"	"Substitution"	""	""
"0000016199"	"0"	"77"	"5"	"131726502"	"131726502"	"subst"	""	"00006"	"SLC22A5_000078"	"g.131726502G>A"	"1/667"	"{PMID:Xiangchun Yang et al. (2021):34249102}"	"Substitution"	""	""
"0000016200"	"0"	"55"	"5"	"131726524"	"131726524"	"subst"	""	"00006"	"SLC22A5_000079"	"g.131726524C>T"	"18/667"	"{PMID:Y L Huang et al. (2020):32521959}"	"Substitution"	""	""
"0000016201"	"0"	"55"	"5"	"131726525"	"131726525"	"subst"	""	"00006"	"SLC22A5_000080"	"g.131726525G>A"	"4/667"	"{PMID:Shuting Wang et al. (2020):32447334}"	"Substitution"	""	""
"0000016202"	"0"	"55"	"5"	"131726558"	"131726558"	"subst"	""	"00006"	"SLC22A5_000082"	"g.131726558G>A"	"1/667"	""	"Substitution"	""	""
"0000016203"	"0"	"77"	"5"	"131726581"	"131726581"	"subst"	""	"00006"	"SLC22A5_000083"	"g.131726581C>T"	"2/667"	"{PMID:Ting Wang et al. (2019):31737040}"	"Substitution"	""	""
"0000016204"	"0"	"55"	"5"	"131728155"	"131728155"	"subst"	""	"00006"	"SLC22A5_000084"	"g.131728155T>C"	"2/667"	"{PMID:Xiaoqiang Zhou et al. (2020):33268576}"	"Substitution"	""	""
"0000016205"	"0"	"55"	"5"	"131728176"	"131728176"	"subst"	""	"00006"	"SLC22A5_000085"	"g.131728176C>T"	"1/667"	"{PMID:Y L Huang et al. (2020):32521959}"	"Substitution"	""	""
"0000016206"	"0"	"55"	"5"	"131728200"	"131728200"	"subst"	""	"00006"	"SLC22A5_000086"	"g.131728200T>G"	"1/667"	"{PMID:Xiangchun Yang et al. (2021):34249102}"	"Substitution"	""	""
"0000016207"	"0"	"77"	"5"	"131728219"	"131728219"	"subst"	""	"00006"	"SLC22A5_000087"	"g.131728219T>G"	"1/667"	""	"Substitution"	""	""
"0000016208"	"0"	"77"	"5"	"131728229"	"131728229"	"del"	""	"00006"	"SLC22A5_000090"	"g.131728229delG"	"1/667"	""	"Deletion"	""	""
"0000016209"	"0"	"55"	"5"	"131728237"	"131728237"	"subst"	""	"00006"	"SLC22A5_000091"	"g.131728237C>A"	"1/667"	"{PMID:Y L Huang et al. (2020):32521959}"	"Substitution"	""	""
"0000016210"	"0"	"99"	"5"	"131728257"	"131728257"	"subst"	""	"00006"	"SLC22A5_000092"	"g.131728257C>G"	"211/667"	""	"Substitution"	""	""
"0000016211"	"0"	"55"	"5"	"131728268"	"131728268"	"subst"	""	"00006"	"SLC22A5_000093"	"g.131728268C>G"	"1/667"	"{PMID:Yao Chen et al. (2021):33560599}"	"Substitution"	""	""
"0000016212"	"0"	"55"	"5"	"131728268"	"131728268"	"subst"	""	"00006"	"SLC22A5_000094"	"g.131728268C>T"	"2/667"	"{PMID:Ni-Chung Lee et al.(2009):20074989}"	"Substitution"	""	""
"0000016213"	"0"	"55"	"5"	"131728269"	"131728269"	"subst"	""	"00006"	"SLC22A5_000095"	"g.131728269G>A"	"1/667"	"{PMID:Han L et al. (2014):25132046}"	"Substitution"	""	""
"0000016214"	"0"	"55"	"5"	"131728272"	"131728272"	"subst"	""	"00006"	"SLC22A5_000096"	"g.131728272T>G"	"1/667"	""	"Substitution"	""	""
"0000016215"	"0"	"90"	"5"	"131728277"	"131728277"	"subst"	""	"00006"	"SLC22A5_000097"	"g.131728277A>C"	"1/667"	"{PMID:Xiangchun Yang et al. (2021):34249102}"	"Substitution"	""	""
"0000016216"	"0"	"55"	"5"	"131728290"	"131728290"	"subst"	""	"00006"	"SLC22A5_000098"	"g.131728290C>T"	"2/667"	""	"Substitution"	""	""
"0000016217"	"0"	"55"	"5"	"131728302"	"131728302"	"subst"	""	"00006"	"SLC22A5_000099"	"g.131728302A>G"	"3/667"	""	"Substitution"	""	""
"0000016218"	"0"	"77"	"5"	"131729407"	"131729407"	"subst"	""	"00006"	"SLC22A5_000101"	"g.131729407G>A"	"1/667"	"{PMID:Xiangchun Yang et al. (2021):34249102}"	"Substitution"	""	""
"0000016219"	"0"	"55"	"5"	"131729422"	"131729422"	"subst"	""	"00006"	"SLC22A5_000102"	"g.131729422C>A"	"1/667"	""	"Substitution"	""	""
"0000016220"	"0"	"77"	"5"	"131729947"	"131729947"	"del"	""	"00006"	"SLC22A5_000103"	"g.131729947delA"	"1/667"	""	"Deletion"	""	""
"0000016518"	"0"	"55"	"5"	"131705942"	"131705942"	"subst"	""	"00006"	"SLC22A5_000017"	"g.131705942C>T"	"1/667"	"{PMID:Chiju Yang et al. (2021):34704412}"	"Substitution"	""	""
"0000016519"	"0"	"55"	"5"	"131729379"	"131729379"	"subst"	""	"00006"	"SLC22A5_000100"	"g.131729379C>T"	"2/667"	"{PMID:Guoxing Geng et al. (2021):34729741}"	"Substitution"	""	""
"0000016520"	"0"	"77"	"5"	"131728222"	"131728222"	"dup"	""	"00006"	"SLC22A5_000089"	"g.131728222dup"	"1/667"	""	"Duplication"	""	""
"0000016521"	"0"	"55"	"5"	"131728220"	"131728220"	"subst"	""	"00006"	"SLC22A5_000088"	"g.131728220C>A"	"1/667"	"{PMID:Shuting Wang et al. (2020):32447334}"	"Substitution"	""	""
"0000016522"	"0"	"55"	"5"	"131726527"	"131726527"	"subst"	""	"00006"	"SLC22A5_000081"	"g.131726527C>T"	"1/667"	"{PMID:Shuting Wang et al. (2020):32447334}"	"Substitution"	""	""
"0000016523"	"0"	"55"	"5"	"131726393"	"131726393"	"subst"	""	"00006"	"SLC22A5_000068"	"g.131726393C>T"	"2/667"	"{PMID:Guoxing Geng et al. (2021):34729741}"	"Substitution"	""	""
"0000016524"	"0"	"55"	"5"	"131724710"	"131724710"	"subst"	""	"00006"	"SLC22A5_000067"	"g.131724710T>C"	"1/667"	"{PMID:Chiju Yang et al.(2021):34704412}"	"Substitution"	""	""
"0000016525"	"0"	"77"	"5"	"131722830"	"131722831"	"del"	""	"00006"	"SLC22A5_000064"	"g.131722830_131722831del"	"1/667"	"{PMID:Shuting Wang et al. (2020):32447334}"	"Deletion"	""	""
"0000016526"	"0"	"77"	"5"	"131722736"	"131722736"	"dup"	""	"00006"	"SLC22A5_000058"	"g.131722736dup"	"1/667"	""	"Duplication"	""	""
"0000016527"	"0"	"77"	"5"	"131722717"	"131722717"	"subst"	""	"00006"	"SLC22A5_000055"	"g.131722717C>T"	"1/667"	""	"Substitution"	""	""
"0000016528"	"0"	"77"	"5"	"131714069"	"131714069"	"subst"	""	"00006"	"SLC22A5_000025"	"g.131714069G>T"	"3/667"	""	"Substitution"	""	""


## 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 SLC22A5
## Count = 103
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"
"0000016128"	"00000134"	"99"	"1"	"0"	"1"	"0"	"c.1A>G"	"1"	"Met1Val"	"r.0?"
"0000016129"	"00000134"	"99"	"3"	"0"	"3"	"0"	"c.3G>T"	"1"	"Met1Ile"	"r.0?"
"0000016130"	"00000134"	"77"	"37"	"0"	"37"	"0"	"c.37G>T"	"1"	"Glu13*"	"r.0?"
"0000016131"	"00000134"	"55"	"40"	"0"	"40"	"0"	"c.40T>A"	"1"	"Trp14Arg"	"r.0?"
"0000016132"	"00000134"	"77"	"42"	"0"	"42"	"0"	"c.42G>A"	"1"	"Trp14*"	"r.0?"
"0000016133"	"00000134"	"99"	"51"	"0"	"51"	"0"	"c.51C>G"	"1"	"Phe17Leu"	"r.0?"
"0000016134"	"00000134"	"55"	"67"	"0"	"69"	"0"	"c.67_69del"	"1"	"Phe23del"	"r.0?"
"0000016135"	"00000134"	"77"	"95"	"0"	"95"	"0"	"c.95A>G"	"1"	"Asn32Ser"	"r.0?"
"0000016136"	"00000134"	"55"	"119"	"0"	"119"	"0"	"c.119T>G"	"1"	"Val40Gly"	"r.0?"
"0000016137"	"00000134"	"55"	"131"	"0"	"131"	"0"	"c.131C>A"	"1"	"Ala44Glu"	"r.0?"
"0000016138"	"00000134"	"55"	"137"	"0"	"137"	"0"	"c.137C>G"	"1"	"Pro46Arg"	"r.0?"
"0000016139"	"00000134"	"90"	"137"	"0"	"137"	"0"	"c.137C>T"	"1"	"Pro46Leu"	"r.0?"
"0000016140"	"00000134"	"55"	"248"	"0"	"248"	"0"	"c.248G>T"	"1"	"Arg83Leu"	"r.0?"
"0000016141"	"00000134"	"55"	"250"	"0"	"250"	"0"	"c.250T>A"	"1"	"Tyr84Asn"	"r.0?"
"0000016142"	"00000134"	"77"	"252"	"0"	"265"	"0"	"c.252_265dup14"	"1"	"Ile89Thrfs*46"	"r.0?"
"0000016143"	"00000134"	"77"	"265"	"0"	"266"	"0"	"c.265_266insGGCTCGCCACC"	"1"	"Ile89Argfs*45"	"r.0?"
"0000016144"	"00000134"	"77"	"288"	"0"	"288"	"0"	"c.288delG"	"1"	"Leu97Trpfs*33"	"r.0?"
"0000016145"	"00000134"	"55"	"308"	"0"	"308"	"0"	"c.308T>A"	"1"	"Val103Glu"	"r.0?"
"0000016146"	"00000134"	"99"	"338"	"0"	"338"	"0"	"c.338G>A"	"1"	"Cys113Tyr"	"r.0?"
"0000016147"	"00000134"	"77"	"339"	"0"	"339"	"0"	"c.339T>A"	"1"	"Cys113*"	"r.0?"
"0000016148"	"00000134"	"55"	"371"	"0"	"371"	"0"	"c.371A>G"	"1"	"Tyr124Cys"	"r.0?"
"0000016149"	"00000134"	"55"	"393"	"5"	"393"	"5"	"c.393+5G>A"	"1i"	"-"	"r.0?"
"0000016150"	"00000134"	"77"	"394"	"-1"	"394"	"-1"	"c.394-1G>A"	"1i"	"-"	"r.0?"
"0000016151"	"00000134"	"77"	"396"	"0"	"396"	"0"	"c.396G>A"	"2"	"Trp132*"	"r.0?"
"0000016152"	"00000134"	"55"	"407"	"0"	"407"	"0"	"c.407G>A"	"2"	"Cys136Tyr"	"r.0?"
"0000016153"	"00000134"	"99"	"428"	"0"	"428"	"0"	"c.428C>T"	"2"	"Pro143Leu"	"r.0?"
"0000016154"	"00000134"	"55"	"431"	"0"	"431"	"0"	"c.431T>C"	"2"	"Leu144Pro"	"r.0?"
"0000016155"	"00000134"	"77"	"433"	"0"	"433"	"0"	"c.433dupA"	"2"	"Thr145Asnfs*50"	"r.0?"
"0000016156"	"00000134"	"55"	"439"	"0"	"439"	"0"	"c.439T>A"	"2"	"Ser147Thr"	"r.0?"
"0000016157"	"00000134"	"55"	"461"	"0"	"461"	"0"	"c.461T>C"	"2"	"Leu154Pro"	"r.0?"
"0000016158"	"00000134"	"55"	"495"	"0"	"495"	"0"	"c.495C>A"	"2"	"Asp165Glu"	"r.0?"
"0000016159"	"00000134"	"99"	"497"	"1"	"497"	"1"	"c.497+1G>T"	"2i"	"-"	"r.0?"
"0000016160"	"00000134"	"77"	"498"	"-2"	"498"	"-2"	"c.498-2A>G"	"2i"	"-"	"r.0?"
"0000016161"	"00000134"	"77"	"505"	"0"	"505"	"0"	"c.505C>T"	"3"	"Arg169Trp"	"r.0?"
"0000016162"	"00000134"	"55"	"506"	"0"	"506"	"0"	"c.506G>A"	"3"	"Arg169Gln"	"r.0?"
"0000016163"	"00000134"	"77"	"507"	"0"	"507"	"0"	"c.507delG"	"3"	"Lys170Argfs*6"	"r.0?"
"0000016164"	"00000134"	"99"	"517"	"0"	"517"	"0"	"c.517delC"	"3"	"Leu173Cysfs*3"	"r.0?"
"0000016165"	"00000134"	"55"	"538"	"0"	"538"	"0"	"c.538C>G"	"3"	"Gln180Glu"	"r.0?"
"0000016166"	"00000134"	"55"	"572"	"0"	"572"	"0"	"c.572A>G"	"3"	"Lys191Arg"	"r.0?"
"0000016167"	"00000134"	"99"	"652"	"1"	"652"	"1"	"c.652+1G>A"	"3i"	"-"	"r.0?"
"0000016168"	"00000134"	"55"	"680"	"0"	"680"	"0"	"c.680G>A"	"4"	"Arg227His"	"r.0?"
"0000016169"	"00000134"	"77"	"694"	"0"	"694"	"0"	"c.694A>G"	"4"	"Thr232Ala"	"r.0?"
"0000016170"	"00000134"	"99"	"695"	"0"	"695"	"0"	"c.695C>T"	"4"	"Thr232Met"	"r.0?"
"0000016171"	"00000134"	"51"	"700"	"0"	"700"	"0"	"c.700G>C"	"4"	"Gly234Arg"	"r.0?"
"0000016173"	"00000134"	"77"	"745"	"0"	"748"	"0"	"c.745_748delTTTG"	"4"	"Phe249Leufs*14"	"r.0?"
"0000016174"	"00000134"	"99"	"760"	"0"	"760"	"0"	"c.760C>T"	"4"	"Arg254*"	"r.0?"
"0000016175"	"00000134"	"55"	"761"	"0"	"761"	"0"	"c.761G>A"	"4"	"Arg254Gln"	"r.0?"
"0000016176"	"00000134"	"55"	"774"	"0"	"775"	"0"	"c.774_775insTCG"	"4"	"Met258_Leu259insSer"	"r.0?"
"0000016177"	"00000134"	"77"	"782"	"0"	"799"	"0"	"c.782_799del"	"4"	"Val261_Pro266del"	"r.0?"
"0000016178"	"00000134"	"99"	"797"	"0"	"797"	"0"	"c.797C>T"	"4"	"Pro266Leu"	"r.0?"
"0000016179"	"00000134"	"77"	"822"	"0"	"822"	"0"	"c.822G>A"	"4"	"Trp274*"	"r.0?"
"0000016180"	"00000134"	"77"	"824"	"1"	"824"	"1"	"c.824+1G>A"	"4i"	"-"	"r.0?"
"0000016181"	"00000134"	"55"	"839"	"0"	"839"	"0"	"c.839C>T"	"5"	"Ser280Phe"	"r.0?"
"0000016182"	"00000134"	"77"	"844"	"0"	"844"	"0"	"c.844C>T"	"5"	"Arg282*"	"r.0?"
"0000016183"	"00000134"	"55"	"845"	"0"	"845"	"0"	"c.845G>A"	"5"	"Arg282Gln"	"r.0?"
"0000016184"	"00000134"	"55"	"851"	"0"	"851"	"0"	"c.851T>C"	"5"	"Leu284Pro"	"r.0?"
"0000016185"	"00000134"	"99"	"865"	"0"	"865"	"0"	"c.865C>T"	"5"	"Arg289*"	"r.0?"
"0000016186"	"00000134"	"77"	"896"	"0"	"896"	"0"	"c.896delA"	"5"	"Lys299Argfs*23"	"r.0?"
"0000016187"	"00000134"	"77"	"919"	"0"	"919"	"0"	"c.919delG"	"5"	"Val307Leufs*15"	"r.0?"
"0000016188"	"00000134"	"77"	"972"	"0"	"972"	"0"	"c.972dup"	"6"	"Lys325Glufs*40"	"r.0?"
"0000016189"	"00000134"	"77"	"976"	"0"	"976"	"0"	"c.976C>T"	"6"	"Gln326*"	"r.0?"
"0000016190"	"00000134"	"55"	"1085"	"0"	"1085"	"0"	"c.1085C>T"	"7"	"Ser362Leu"	"r.0?"
"0000016191"	"00000134"	"55"	"1121"	"0"	"1121"	"0"	"c.1121T>C"	"7"	"Val374Ala"	"r.0?"
"0000016192"	"00000134"	"55"	"1126"	"0"	"1126"	"0"	"c.1126T>C"	"7"	"Cys376Arg"	"r.0?"
"0000016193"	"00000134"	"55"	"1139"	"0"	"1139"	"0"	"c.1139C>T"	"7"	"Ala380Val"	"r.0?"
"0000016194"	"00000134"	"77"	"1144"	"0"	"1162"	"0"	"c.1144_1162del"	"7"	"Val382Cysfs*45"	"r.0?"
"0000016195"	"00000134"	"55"	"1147"	"0"	"1147"	"0"	"c.1147G>A"	"7"	"Glu383Lys"	"r.0?"
"0000016196"	"00000134"	"55"	"1160"	"0"	"1160"	"0"	"c.1160A>G"	"7"	"Tyr387Cys"	"r.0?"
"0000016197"	"00000134"	"77"	"1161"	"0"	"1162"	"0"	"c.1161_1162insA"	"7"	"Val388Serfs*135"	"r.0?"
"0000016198"	"00000134"	"77"	"1161"	"0"	"1161"	"0"	"c.1161T>G"	"7"	"Tyr387*"	"r.0?"
"0000016199"	"00000134"	"77"	"1173"	"0"	"1173"	"0"	"c.1173G>A"	"7"	"Trp391*"	"r.0?"
"0000016200"	"00000134"	"55"	"1195"	"0"	"1195"	"0"	"c.1195C>T"	"7"	"Arg399Trp"	"r.0?"
"0000016201"	"00000134"	"55"	"1196"	"0"	"1196"	"0"	"c.1196G>A"	"7"	"Arg399Gln"	"r.0?"
"0000016202"	"00000134"	"55"	"1229"	"0"	"1229"	"0"	"c.1229G>A"	"7"	"Gly410Asp"	"r.0?"
"0000016203"	"00000134"	"77"	"1252"	"0"	"1252"	"0"	"c.1252C>T"	"7"	"Gln418*"	"r.0?"
"0000016204"	"00000134"	"55"	"1298"	"0"	"1298"	"0"	"c.1298T>C"	"8"	"Met433Thr"	"r.0?"
"0000016205"	"00000134"	"55"	"1319"	"0"	"1319"	"0"	"c.1319C>T"	"8"	"Thr440Met"	"r.0?"
"0000016206"	"00000134"	"55"	"1343"	"0"	"1343"	"0"	"c.1343T>G"	"8"	"Val448Gly"	"r.0?"
"0000016207"	"00000134"	"77"	"1362"	"0"	"1362"	"0"	"c.1362T>G"	"8"	"Tyr454*"	"r.0?"
"0000016208"	"00000134"	"77"	"1372"	"0"	"1372"	"0"	"c.1372delG"	"8"	"Val458*"	"r.0?"
"0000016209"	"00000134"	"55"	"1380"	"0"	"1380"	"0"	"c.1380C>A"	"8"	"Asn460Lys"	"r.0?"
"0000016210"	"00000134"	"99"	"1400"	"0"	"1400"	"0"	"c.1400C>G"	"8"	"Ser467Cys"	"r.0?"
"0000016211"	"00000134"	"55"	"1411"	"0"	"1411"	"0"	"c.1411C>G"	"8"	"Arg471Gly"	"r.0?"
"0000016212"	"00000134"	"55"	"1411"	"0"	"1411"	"0"	"c.1411C>T"	"8"	"Arg471Cys"	"r.0?"
"0000016213"	"00000134"	"55"	"1412"	"0"	"1412"	"0"	"c.1412G>A"	"8"	"Arg471His"	"r.0?"
"0000016214"	"00000134"	"55"	"1415"	"0"	"1415"	"0"	"c.1415T>G"	"8"	"Leu472Arg"	"r.0？"
"0000016215"	"00000134"	"90"	"1420"	"0"	"1420"	"0"	"c.1420A>C"	"8"	"Ser474Arg"	"r.0?"
"0000016216"	"00000134"	"55"	"1433"	"0"	"1433"	"0"	"c.1433C>T"	"8"	"Pro478Leu"	"r.0?"
"0000016217"	"00000134"	"55"	"1445"	"0"	"1445"	"0"	"c.1445A>G"	"8"	"Tyr482Cys"	"r.0?"
"0000016218"	"00000134"	"77"	"1490"	"0"	"1490"	"0"	"c.1490G>A"	"9"	"Ser497Asn"	"r.0?"
"0000016219"	"00000134"	"55"	"1505"	"0"	"1505"	"0"	"c.1505C>A"	"9"	"Thr502Lys"	"r.0?"
"0000016220"	"00000134"	"77"	"1657"	"0"	"1657"	"0"	"c.1657delA"	"10"	"Ser554Alafs*47"	"r.0?"
"0000016518"	"00000134"	"55"	"278"	"0"	"278"	"0"	"c.278C>T"	"1"	"Ser93Leu"	"r.0?"
"0000016519"	"00000134"	"55"	"1462"	"0"	"1462"	"0"	"c.1462C>T"	"9"	"Arg488Cys"	"r.0?"
"0000016520"	"00000134"	"77"	"1365"	"0"	"1365"	"0"	"c.1365dup"	"8"	"Thr456Hisfs*67"	"r.0?"
"0000016521"	"00000134"	"55"	"1363"	"0"	"1363"	"0"	"c.1363C>A"	"8"	"Pro455Thr"	"r.0?"
"0000016522"	"00000134"	"55"	"1198"	"0"	"1198"	"0"	"c.1198C>T"	"7"	"Arg400Cys"	"r.0?"
"0000016523"	"00000134"	"55"	"1064"	"0"	"1064"	"0"	"c.1064C>T"	"7"	"Ser355Leu"	"r.0?"
"0000016524"	"00000134"	"55"	"1049"	"0"	"1049"	"0"	"c.1049T>C"	"6"	"Leu350Pro"	"r.0?"
"0000016525"	"00000134"	"77"	"938"	"0"	"939"	"0"	"c.938_939del"	"5"	"Phe313*"	"r.0?"
"0000016526"	"00000134"	"77"	"844"	"0"	"844"	"0"	"c.844dup"	"5"	"Arg282Profs*10"	"r.0?"
"0000016527"	"00000134"	"77"	"825"	"0"	"825"	"0"	"c.825G>A"	"5"	"Trp275*"	"r.0?"
"0000016528"	"00000134"	"77"	"394"	"-1"	"394"	"-1"	"c.394-1G>T"	"1i"	"-"	"r.0?"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0