### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GAA)
# 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}}"
"GAA"	"alpha glucosidase"	"17"	"q25.3"	"unknown"	"LRG_673"	"UD_144420219559"	""	""	""	"1"	"4065"	"2548"	"606800"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-16 12:13:12"	""	""	"00005"	"2021-09-12 14:35:52"


## Transcripts ## Do not remove or alter this header ##
## Count = 6
"{{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}}"
"00000399"	"GAA"	"glucosidase alpha, acid, transcript variant 1"	"001"	"NM_000152.4"	""	"NP_000143.2"	""	""	""	"-397"	"3410"	"2859"	"80101526"	"80119882"	"00001"	"2021-03-16 12:13:54"	""	""
"00000400"	"GAA"	"glucosidase alpha, acid, transcript variant 2"	"002"	"NM_001079803.2"	""	"NP_001073271.1"	""	""	""	"-212"	"3410"	"2859"	"80101526"	"80119882"	"00001"	"2021-03-16 12:13:54"	""	""
"00000401"	"GAA"	"glucosidase alpha, acid, transcript variant 3"	"003"	"NM_001079804.2"	""	"NP_001073272.1"	""	""	""	"-132"	"3410"	"2859"	"80101526"	"80119882"	"00001"	"2021-03-16 12:13:54"	""	""
"00000402"	"GAA"	"glucosidase alpha, acid, transcript variant 4"	"004"	"NR_134848.1"	""	""	""	""	""	"1"	"1027"	"1027"	"80101526"	"80102737"	"00001"	"2021-03-16 12:13:54"	""	""
"00000403"	"GAA"	"glucosidase alpha, acid, transcript variant X1"	"006"	"XM_005257193.2"	""	"XP_005257250.1"	""	""	""	"-198"	"3409"	"2859"	"80101635"	"80119881"	"00001"	"2021-03-16 12:13:54"	""	""
"00000404"	"GAA"	"glucosidase alpha, acid, transcript variant X2"	"005"	"XM_005257194.4"	""	"XP_005257251.1"	""	""	""	"-238"	"3409"	"2859"	"80101535"	"80119881"	"00001"	"2021-03-16 12:13:54"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00087"	"-"	"Pompe\'s Disease"	"AR"	"232300"	""	""	""	"00001"	"2021-03-16 12:12:27"	"00001"	"2021-07-13 14:22:53"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"GAA"	"00087"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000525"	""	""	""	"1"	""	"00004"	"{PMID:Hiew Fu Liong et al.(2014):25093132}"	""	""	"Kuala Lumpur"	"Chinese"	""	"F"
"00000783"	""	""	""	"1"	""	"00004"	"Zhong-Ming Ng et al.(2021): http://neurology-asia.org/articles/neuroasia-2021-26(2)-413.pdf"	""	""	"Malaysia"	"Chinese"	""	"M"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000525"	"00087"
"00000783"	"00087"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00087
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000179"	"00087"	"00000525"	"00004"	"progressive proximal muscle weakness over 5-year duration, bilateral upper and lower limbs weakness with reduced effort tolerance and breathing difficulties"	""
"0000000302"	"00087"	"00000783"	"00004"	"He was generally thin and tall. Height: 172cm, Weight:41kg. Upper limb power was Medical Research Council grade 5 in both proximally and distally while lower limbs were grade 4 proximally and grade 5 distally. He had limitation of neck and back flexion and extension but no lordosis or kyphoscoliosis. Gowers sign was negative but Beevor sign was positive. Anterior-Posterior and lateral X-ray of the spine showing a straight spine with only minimal scoliosis and no kyphosis or lordosis. MRI sagittal view of the thoracolumbar spine T1-weighted and Short Tau Inversion Recovery (STIR) sequences showed relatively preserved paravertebral muscles without fat infiltration or inflammation"	""


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000573"	"00000525"	"1"	"00004"	"00004"	"2021-03-16 12:22:08"	""	""	"?"	"DNA"
"0000000877"	"00000783"	"1"	"00004"	"00004"	"2021-07-14 09:49:10"	""	""	"?"	"?"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000573"	"GAA"
"0000000877"	"GAA"


## 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 = 6
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000002416"	"1"	"90"	"17"	"80105030"	"80105030"	"subst"	"0"	"00004"	"GAA_000005"	"g.80105030C>G"	""	"{PMID:Hiew Fu Liong et al.(2014):25093132}"	""	""	"rs972668240"
"0000002417"	"0"	"90"	"17"	"80117016"	"80117016"	"subst"	"0"	"00004"	"GAA_000001"	"g.80117016G>C"	""	"{PMID:Hiew Fu Liong et al.(2014):25093132}"	""	""	"rs1800312"
"0000003054"	"0"	"90"	"17"	"20461"	"20461"	"subst"	"0"	"00004"	"GAA_000001"	"g.20461G>C"	""	"Zhong-Ming Ng et al.(2021): http://neurology-asia.org/articles/neuroasia-2021-26(2)-413.pdf"	""	""	"rs1800312"
"0000003055"	"0"	"90"	"17"	"22732"	"22733"	"del"	"0"	"00004"	"GAA_000002"	"g.22732_22733del"	""	"Zhong-Ming Ng et al.(2021): http://neurology-asia.org/articles/neuroasia-2021-26(2)-413.pdf"	""	""	"rs763359208"
"0000003056"	"0"	"10"	"17"	"15517"	"15517"	"subst"	"0"	"00004"	"GAA_000003"	"g.15517G>A"	""	"Zhong-Ming Ng et al.(2021): http://neurology-asia.org/articles/neuroasia-2021-26(2)-413.pdf"	""	""	"rs1800307"
"0000003057"	"0"	"10"	"17"	"16687"	"16687"	"subst"	"0"	"00004"	"GAA_000004"	"g.16687G>A"	""	"Zhong-Ming Ng et al.(2021): http://neurology-asia.org/articles/neuroasia-2021-26(2)-413.pdf"	""	""	"rs1800309"


## 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 GAA
## Count = 6
"{{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}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000002416"	"00000399"	"90"	"444"	"0"	"444"	"0"	"c.444C>G"	"2"	"p.(Tyr148*)"	"r.(?)"	""	"pathogenic (recessive)"
"0000002417"	"00000399"	"90"	"2238"	"0"	"2238"	"0"	"c.2238G>C"	"16"	"p.(Trp746Cys)"	"r.(?)"	""	"Pathogenic/Likely pathogenic"
"0000003054"	"00000399"	"90"	"2238"	"0"	"2238"	"0"	"c.2238G>C"	""	"p.(Trp746Cys)"	"r.(?)"	""	"Pathogenic/Likely pathogenic​"
"0000003055"	"00000399"	"90"	"2815"	"0"	"2816"	"0"	"c.2815_2816del"	""	"p.(Val939Leufs*78)"	"r.(?)"	""	"Pathogenic"
"0000003056"	"00000399"	"10"	"1726"	"0"	"1726"	"0"	"c.1726G>A"	""	"p.(Gly576Ser)"	"r.(?)"	""	"Benign"
"0000003057"	"00000399"	"10"	"2065"	"0"	"2065"	"0"	"c.2065G>A"	""	"p.(Glu689Lys)"	"r.(?)"	""	"Benign"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000000573"	"0000002416"
"0000000573"	"0000002417"
"0000000877"	"0000003054"
"0000000877"	"0000003055"
"0000000877"	"0000003056"
"0000000877"	"0000003057"