### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ATP1A2)
# 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}}"
"ATP1A2" "ATPase, Na+/K+ transporting, alpha 2 polypeptide" "1" "q23.2" "unknown" "LRG_6" "UD_132118229880" "" "https://www.LOVD.nl/ATP1A2" "" "1" "800" "477" "182340" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. The database was initiated by Paola Carrera and Stefania Battistini as part of the Familial Hemiplegic Migraine (FHM) Variation Databases and curated until July 2012." "" "g" "https://databases.lovd.nl/shared/refseq/ATP1A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2004-06-21 00:00:00" "00006" "2018-11-18 20:52:05" "00000" "2025-07-08 13:22:38"
## 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}}"
"00003059" "ATP1A2" "ATPase, Na+/K+ transporting, alpha 2 polypeptide" "001" "NM_000702.3" "" "NP_000693.1" "" "" "" "-132" "5332" "3063" "160085520" "160113381" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"01170" "AHC1" "hemiplegia, alternating, of childhood, type 1 (AHC1)" "AD" "104290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02427" "FHM2" "migraine, hemiplegic, familial, type 2 (FHM-2)" "AD" "602481" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05520" "migraine" "migraine (MGR)" "" "" "" "" "" "00006" "2018-11-18 16:51:01" "00006" "2020-09-02 08:49:23"
"05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" ""
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"ATP1A2" "00139"
"ATP1A2" "01170"
"ATP1A2" "02427"
## Individuals ## Do not remove or alter this header ##
## Count = 319
"{{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}}"
"00034820" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034821" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034822" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034823" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034824" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034825" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034826" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034827" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034828" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034829" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034830" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034831" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034832" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034833" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034834" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034835" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034836" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034837" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034838" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034839" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034840" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034841" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034842" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034843" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00034844" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00108543" "" "" "" "1" "" "01534" "{PMID:Tonelli 2007:17877748}" "Ped2: 1 mutation carrier" "" "" "" "" "0" "" "" "" ""
"00108544" "" "" "" "4" "" "01534" "" "1 family: 4 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108545" "" "" "" "1" "" "01534" "{PMID:Jen 2007:17435187}" "1 variant carrier" "" "" "" "" "0" "" "" "" ""
"00108546" "" "" "" "11" "" "01534" "{PMID:Spadaro 2004:15459825}" "11 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108547" "" "" "" "11" "" "01534" "{PMID:Deprez 2007:18028407}" "11 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108548" "" "" "" "12" "" "01534" "{PMID:Kaunisto 2004:15133718}" "12 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108549" "" "" "" "2" "" "01534" "{PMID:Castro 2007:18028456}" "2 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108550" "" "" "" "2" "" "01534" "{PMID:Riant 2005:16088919}" "2 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108551" "" "" "" "2" "" "01534" "NEW: De Vries 2008" "2 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108552" "" "" "" "2" "" "01534" "{PMID:Jen 2007:17435187}" "2 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108553" "" "" "" "20" "" "01534" "{PMID:Fernandez 2008:18184292}" "20 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108554" "" "" "" "3" "" "01534" "{PMID:Vanmolkot 2007:17473835}" "3 variant carriers;o cmpound heterozygosity" "" "" "" "" "0" "" "" "" ""
"00108555" "" "" "" "3" "" "01534" "{PMID:Pierelli 2006:16472340}" "3 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108556" "" "" "" "3" "" "01534" "{PMID:Castro 2007:18028456}" "3 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108557" "" "" "" "3" "" "01534" "NEW: De Vries 2008" "3 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108558" "" "" "" "4" "" "01534" "{PMID:Bassi 2004:15286158}" "4 variant carriers;A lso published by {PMID:Swoboda 2004:15174025}" "" "" "" "" "0" "" "" "" ""
"00108559" "" "" "" "4" "" "01534" "{PMID:Vanmolkot 2007:17473835}" "4 variant carriers;C ompound heterozygosity" "" "" "" "" "0" "" "" "" ""
"00108560" "" "" "" "1" "" "01534" "{PMID:Ambrosini 2005:16344534}" "4 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108561" "" "" "" "5" "" "01534" "{PMID:Vanmolkot 2006:16437583}" "5 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108562" "" "" "" "1" "" "01534" "{PMID:De Vries 2007:18056581}" "Fam 3: 1 variant carrier" "" "" "" "" "0" "" "" "" ""
"00108563" "" "" "" "1" "" "01534" "{PMID:De Vries 2007:18056581}" "Fam 4: 1 variant carrier" "" "" "" "" "0" "" "" "" ""
"00108564" "" "" "" "3" "" "01534" "{PMID:De Vries 2007:18056581}" "Fam 5: 3 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108565" "" "" "" "1" "" "01534" "{PMID:De Vries 2007:18056581}" "Fam 6: 1 variant carrier" "" "" "" "" "0" "" "" "" ""
"00108566" "" "" "" "15" "" "01534" "{PMID:Riant 2005:16088919}" "Family 1: 15 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108567" "" "" "" "22" "" "01534" "{PMID:De Fusco 2003:12539047}" "Family 1: 22 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108568" "" "" "" "14" "" "01534" "{PMID:Castro 2007:17952365}" "Family 1: 4 variant carriers, Family 2: 10 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108569" "" "" "" "7" "" "01534" "{PMID:Vanmolkot 2006:16538223}" "Family 1: 7 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108570" "" "" "" "3" "" "01534" "{PMID:Jen 2007:17435187}" "Family 10: 3 variant carriers; Family 12: 5 variant carriers; Family 25: 2 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108571" "" "" "" "10" "" "01534" "{PMID:Vanmolkot 2003:12953268}" "Family 2: 10 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108572" "" "" "" "2" "" "01534" "{PMID:Vanmolkot 2006:16538223}" "Family 2: 2 mtuation carriers" "" "" "" "" "0" "" "" "" ""
"00108573" "" "" "" "6" "" "01534" "{PMID:Riant 2005:16088919}" "Family 2: 6 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108574" "" "" "" "7" "" "01534" "{PMID:De Fusco 2003:12539047}" "Family 2: 7 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108575" "" "" "" "2" "" "01534" "{PMID:Riant 2005:16088919}" "Family 22: 2 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108576" "" "" "" "2" "" "01534" "{PMID:Riant 2005:16088919}" "Family 24: 2 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108577" "" "" "" "8" "" "01534" "{PMID:Riant 2005:16088919}" "Family 3: 8 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108578" "" "" "" "7" "" "01534" "{PMID:Riant 2005:16088919}" "Family 4: 7 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108579" "" "" "" "3" "" "01534" "{PMID:Castro 2007:17952365}" "Family 6: 3 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108580" "" "" "" "11" "" "01534" "{PMID:Thomsen 2007:17142831}" "Family 6005: 11 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108581" "" "" "" "3" "" "01534" "{PMID:Thomsen 2007:17142831}" "3 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108582" "" "" "" "4" "" "01534" "{PMID:Thomsen 2007:17142831}" "Family 6016: 4 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108583" "" "" "" "6" "" "01534" "{PMID:Riant 2005:16088919}" "Family 8: 6 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108584" "" "" "" "7" "" "01534" "{PMID:Jurkat-Rott 2004:15159495}" "Family A: 7 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108585" "" "" "" "5" "" "01534" "{PMID:Jurkat-Rott 2004:15159495}" "Family B: 5 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108586" "" "" "" "2" "" "01534" "{PMID:Riant 2005:16088919}" "2 variant carriers; p.X1021Arg (followed by 27 residues prior to the stop codon, PHWKKNQAWKDGELWRCCGDGDGEGWKX)" "" "" "" "" "0" "" "" "" ""
"00108587" "" "" "" "3" "" "01534" "{PMID:Jurkat-Rott 2004:15159495}" "Family D: 3 variant carriers" "" "" "" "" "0" "" "" "" ""
"00108588" "" "" "" "1" "" "01534" "{PMID:Jurkat-Rott 2004:15159495}" "Family E: 1 variant carrier" "" "" "" "" "0" "" "" "" ""
"00108589" "" "" "" "1" "" "01534" "{PMID:Jurkat-Rott 2004:15159495}" "Family F: 1 variant carrier" "" "" "" "" "0" "" "" "" ""
"00108590" "" "" "" "1" "" "01534" "{PMID:Jurkat-Rott 2004:15159495}" "Family G: 1 variant carrier" "" "" "" "" "0" "" "" "" ""
"00108592" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108593" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108594" "" "" "" "4" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00108595" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108596" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00108597" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108598" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00108599" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" ""
"00108600" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108601" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108602" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108603" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108604" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108605" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108606" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108607" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108608" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108609" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108610" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00108611" "" "" "" "3" "" "01534" "{PMID:Tonelli 2007:17877748}" "Ped1: 3 mutation carriers" "" "" "" "" "0" "" "" "" ""
"00108612" "" "" "" "1" "" "01534" "{PMID:De Vries 2007:18056581}" "Fam2: 1 mutation carrier" "" "" "" "" "0" "" "" "" ""
"00207087" "" "" "" "1" "" "00753" "{PMID:Tonelli 2007:17877748}" "Triggering factors of hemiplegic migraine: physical and emotional stress" "F" "" "Italy" "" "0" "" "Triptans" "" ""
"00207088" "" "" "" "1" "" "00753" "{PMID:Tonelli 2007:17877748}" "Triggering factors of hemiplegic migraine: physical and emotional stress" "F" "" "Italy" "" "0" "" "Triptans" "" ""
"00207089" "" "" "" "1" "" "00753" "{PMID:Tonelli 2007:17877748}" "Triggering factors of hemiplegic migraine: physical and emotional stress" "M" "" "Italy" "" "0" "" "Triptans" "" ""
"00207090" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "Genotyping of relatives identified 6 mutation carriers, among whom 5 were clinically affected. In addition 1 phenocopy was present." "F" "" "France" "" "0" "" "no treatment known" "" ""
"00207091" "" "" "" "3" "" "00753" "{PMID:Vanmolkot 2007:17473835}" "" "" "" "" "" "0" "" "no treatment known" "" ""
"00207092" "" "" "" "1" "" "00753" "{PMID:Spadaro 2004:15459825}" "" "F" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207093" "" "" "" "1" "" "00753" "{PMID:Spadaro 2004:15459825}" "" "F" "" "Italy" "" "0" "" "Phenobarbital 100 mg/day" "" ""
"00207094" "" "" "" "1" "" "00753" "{PMID:Spadaro 2004:15459825}" "" "F" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207095" "" "" "" "1" "" "00753" "{PMID:Spadaro 2004:15459825}" "" "M" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207096" "" "" "" "1" "" "00753" "{PMID:Spadaro 2004:15459825}" "" "M" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207097" "" "" "" "1" "" "00753" "{PMID:Spadaro 2004:15459825}" "" "F" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207098" "" "" "" "1" "" "00753" "{PMID:Spadaro 2004:15459825}" "" "F" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207099" "" "" "" "1" "" "00753" "{PMID:Spadaro 2004:15459825}" "" "M" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207100" "" "" "" "1" "" "00753" "{PMID:Spadaro 2004:15459825}" "" "F" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207101" "" "" "" "1" "" "00753" "{PMID:Kaunisto 2004:15133718}" "" "F" "" "Finland" "" "0" "" "no treatment known" "" ""
"00207102" "" "" "" "1" "" "00753" "{PMID:Kaunisto 2004:15133718}" "" "M" "" "Finland" "" "0" "" "no treatment known" "" ""
"00207103" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "F" "" "Portugal" "" "0" "" "" "" ""
"00207104" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "F" "" "Portugal" "" "0" "" "" "" ""
"00207105" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00207106" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "F" "" "Portugal" "" "0" "" "" "" ""
"00207107" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00207108" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00207109" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "F" "" "Portugal" "" "0" "" "" "" ""
"00207110" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00207111" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "F" "" "Portugal" "" "0" "" "" "" ""
"00207112" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "F" "" "Portugal" "" "0" "" "" "" ""
"00207113" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "Genotyping of relatives identified 2 mutation carriers, clinically affected." "M" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207114" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "Genotyping of relatives identified 5 mutation carriers, among whom 4 were clinically affected, and 1 with clinical information unavailable." "M" "" "France" "" "0" "" "" "" ""
"00207115" "" "" "" "1" "" "00753" "{PMID:Swoboda 2004:15174025}" "" "F" "" "Greece" "" "0" "" "Flunarizine" "" ""
"00207116" "" "" "" "1" "" "00753" "{PMID:Swoboda 2004:15174025}" "" "M" "" "Greece" "" "0" "" "Flunarizine" "" ""
"00207117" "" "" "" "1" "" "00753" "{PMID:Swoboda 2004:15174025}" "" "M" "" "Greece" "" "0" "" "Flunarizine" "" ""
"00207118" "" "" "" "1" "" "00753" "{PMID:Swoboda 2004:15174025}" "" "M" "" "Greece" "" "0" "" "Flunarizine" "" ""
"00207119" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207120" "" "" "" "1" "" "00753" "{PMID:Lebas 2008:18498390}" "" "F" "" "France" "" "0" "" "paracetamol" "" ""
"00207121" "" "" "" "1" "" "00753" "{PMID:Lebas 2008:18498390}" "" "M" "" "France" "" "0" "" "" "" ""
"00207122" "" "" "" "1" "" "00753" "{PMID:Lebas 2008:18498390}" "" "F" "" "France" "" "0" "" "paracetamol" "" ""
"00207123" "" "" "" "1" "" "00753" "{PMID:Lebas 2008:18498390}" "" "F" "" "France" "" "0" "" "sodium valproate" "" ""
"00207124" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2006:16538223}" "Haplotype analysis showed that the mutation occurred de novo." "F" "" "Netherlands" "" "0" "" "valproic acid, improved" "" ""
"00207125" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2006:16538223}" "" "F" "" "Netherlands" "" "0" "" "" "" ""
"00207126" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "Genotyping of relatives identified 2 mutation carriers, clinically affected." "M" "" "France" "" "0" "" "no treatment known" "" ""
"00207127" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "Genotyping of relatives identified 3 mutation carriers, clinically affected." "M" "" "Portugal" "" "0" "" "" "" ""
"00207129" "" "" "" "1" "" "00753" "{PMID:Jen 2007:17435187}" "The young girl developed left-sided numbness and paralysis after 2 days of a severe right-sided headache.The hemiparesis was dense for 5 days and then gradually resolved over the next few days." "F" "" "" "" "0" "" "" "white" ""
"00207130" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "Genotyping of relatives identified 1 mutation carrier, clinically affected." "F" "" "Switzerland" "" "0" "" "" "" ""
"00207131" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2006:16437583}" "p.Gly615Arg is located in the highly conserved \"TGD\" motif of the ATP-binding domain." "F" "" "Netherlands" "" "0" "" "" "" ""
"00207132" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2006:16437583}" "In the proband , this mutation is associated with a drastic clinical phenotype consisting of both episodic and permanent severe neurological features starting at a young age; The episodic symptoms were precipitated by mild head trauma and included hemiplegia,epileptic seizures and cortical blindness; Her father (II.6) reported that he, his brother (II.5) and his sister (II.4) were diagnosed with childhood epilepsy. Retrospectively, II.4, II.5 and II.6 most likely had hemiplegic migraine with a few episodes of confusional migraine; The p.Gly615Arg is located in the highly conserved \"TGD\" motif of the ATP-binding domain." "F" "" "Netherlands" "" "0" "" "Acetazolamide, resolution symptoms" "" ""
"00207133" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2006:16538223}" "Family 1 is the first Turkish family reported with FHM; haplotype analysis showed that the mutation occurred \"de novo\"." "F" "" "Turkey" "" "0" "" "" "" ""
"00207134" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2006:16538223}" "Twin brother IV.2. Two affected sisters (IV.3, IV.4) with the p. Val628Met mutation; Family 1 is the first Turkish family reported with FHM." "M" "" "Turkey" "" "0" "" "" "" ""
"00207135" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2006:16538223}" "Twin brother IV.1. Two affected sisters (IV.3, IV.4) with the p. Val628Met mutation; Family 1 is the first Turkish family reported with FHM." "M" "" "Turkey" "" "0" "" "" "" ""
"00207136" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2006:16538223}" "Family 1 is the first Turkish family reported with FHM" "F" "" "Turkey" "" "0" "" "" "" ""
"00207137" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2006:16538223}" "Family 1 is the first Turkish family reported with FHM." "F" "" "Turkey" "" "0" "" "" "" ""
"00207138" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207139" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207140" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207141" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207142" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207143" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207144" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207145" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207146" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207147" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207148" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207149" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207150" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207151" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207152" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207153" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207154" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207155" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207156" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207157" "" "" "" "1" "" "00753" "{PMID:Pierelli 2006:16472340}" "" "F" "" "Italy" "" "0" "" "" "" ""
"00207158" "" "" "" "1" "" "00753" "{PMID:Pierelli 2006:16472340}" "The patient identified several triggers for his attacks, including physical or emotional stress, alcohol intake, cold, minor head trauma and \"roasted coffee\" smell." "M" "" "Italy" "" "0" "" "" "" ""
"00207159" "" "" "" "1" "" "00753" "{PMID:Pierelli 2006:16472340}" "His first migraine attack was after a minor head trauma sustained while playing soccer; With the exception of the visual disturbances,which disappeared rapidly, full neurological recovery took a few days; He experienced severe attacks with confusion and drowsiness. ; When aged 40, after a cerebral angiography, the procedure was followed by a coma state lasting 3 days." "M" "" "Italy" "" "0" "" "" "" ""
"00207160" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207161" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207162" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "M" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207163" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207164" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207165" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207166" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207167" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "F" "" "Portugal" "" "0" "" "" "" ""
"00207168" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00207169" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "F" "" "Portugal" "" "0" "" "" "" ""
"00207170" "" "" "" "1" "" "00753" "{PMID:Castro 2007:17952365}" "" "F" "" "Portugal" "" "0" "" "" "" ""
"00207171" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207172" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207173" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207174" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207175" "" "" "" "1" "" "00753" "{PMID:Vanmolkot 2003:12953268}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" ""
"00207176" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "M" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207177" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207178" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "M" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207179" "" "" "" "1" "" "00753" "{PMID:De Fusco 2003:12539047}" "" "M" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207180" "" "" "" "1" "" "00753" "{PMID:De Fusco 2003:12539047}" "" "M" "" "Italy" "" "0" "" "Acetazolamide" "" ""
"00207181" "" "" "" "1" "" "00753" "{PMID:De Fusco 2003:12539047}" "" "M" "" "Italy" "" "0" "" "Acetazolamide" "" ""
"00207182" "" "" "" "1" "" "00753" "{PMID:De Fusco 2003:12539047}" "" "M" "" "Italy" "" "0" "" "Acetazolamide" "" ""
"00207183" "" "" "" "1" "" "00753" "{PMID:De Fusco 2003:12539047}" "" "M" "" "Italy" "" "0" "" "Acetazolamide" "" ""
"00207184" "" "" "" "1" "" "00753" "{PMID:De Fusco 2003:12539047}" "" "F" "" "Italy" "" "0" "" "Acetazolamide" "" ""
"00207185" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207186" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "Genotyping of relatives identified 6 mutation carriers, among whom 4 were clinically affected, and 1 with uncertain clinical diagnosis." "F" "" "France" "" "0" "" "no treatment known" "" ""
"00207187" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "Genotyping of relatives identified 14 mutation carriers, among whom 10 were clinically affected and 2 with uncertain clinical diagnosis. In addition 2 phenocopies were present." "M" "" "France" "" "0" "" "no treatment known" "" ""
"00207188" "" "" "" "1" "" "00753" "{PMID:De Fusco 2003:12539047}" "" "F" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207189" "" "" "" "1" "" "00753" "{PMID:De Fusco 2003:12539047}" "" "F" "" "Italy" "" "0" "" "Acetazolamide" "" ""
"00207190" "" "" "" "1" "" "00753" "{PMID:De Fusco 2003:12539047}" "" "M" "" "Italy" "" "0" "" "no treatment known" "" ""
"00207191" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "Another paper (PMID 15985592: Dreier JP et al.) describes delayed cerebral edema in a patient with the p.Glu902Lys substitution." "M" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207192" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "Genotyping of relatives identified 7 mutation carriers, among whom 4 were clinically affected." "F" "" "France" "" "0" "" "no treatment known" "" ""
"00207193" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "Genotyping of relatives identified 1 mutation carrier, clinically affected." "M" "" "France" "" "0" "" "no treatment known" "" ""
"00207194" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "Genotyping of relatives identified 1 mutation carrier, clinically affected." "F" "" "France" "" "0" "" "no treatment known" "" ""
"00207195" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "M" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207196" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207197" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207198" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "M" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207199" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207200" "" "" "" "1" "" "00753" "{PMID:Fernandez 2008:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207201" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "M" "" "Ireland" "" "0" "" "" "white" ""
"00207202" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207203" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207204" "" "" "" "1" "" "00753" "{PMID:Fernandez 2008:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207205" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "M" "" "Ireland" "" "0" "" "" "white" ""
"00207206" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207207" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "M" "" "Ireland" "" "0" "" "" "white" ""
"00207208" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207209" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "The pz with p.Asp999His did not have the clinical phenotype of FHM." "F" "" "Ireland" "" "0" "" "" "white" ""
"00207210" "" "" "" "1" "" "00753" "{PMID:Fernandez 2008:18184292}" "Single episodes of childhood febrile convulsions; Dysarthria,gait ataxia,upper limb clumsiness during hemiplegic migraine attacks;" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207211" "" "" "" "1" "" "00753" "{PMID:Fernandez 2008:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207212" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207213" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "M" "" "Ireland" "" "0" "" "" "white" ""
"00207214" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207215" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "M" "" "Ireland" "" "0" "" "" "white" ""
"00207216" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207217" "" "" "" "1" "" "00753" "{PMID:Fernandez 2008:18184292}" "" "M" "" "Ireland" "" "0" "" "" "white" ""
"00207218" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207219" "" "" "" "1" "" "00753" "{PMID:Fernandez 2007:18184292}" "" "F" "" "Ireland" "" "0" "" "" "white" ""
"00207220" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207221" "" "" "" "1" "" "00753" "{PMID:Jurkat-Rott 2004:15159495}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" ""
"00207222" "" "" "" "1" "" "00753" "{PMID:Castro 2008:18028456}" "also Borderline Personality Disturbance (BPD) and aggressive behaviour" "M" "" "Portugal" "" "0" "" "flunarizine" "" ""
"00207223" "" "" "" "1" "" "00753" "{PMID:Castro 2008:18028456}" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00207224" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "F" "" "Denmark" "" "0" "" "" "" ""
"00207225" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%; FHM attack triggered by minor head trauma." "F" "" "Denmark" "" "0" "" "" "" ""
"00207226" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "F" "" "Denmark" "" "0" "" "" "" ""
"00207227" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "F" "" "Denmark" "" "0" "" "" "" ""
"00207228" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "M" "" "Denmark" "" "0" "" "" "" ""
"00207229" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "F" "" "Denmark" "" "0" "" "" "" ""
"00207230" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "F" "" "Denmark" "" "0" "" "" "" ""
"00207231" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "F" "" "Denmark" "" "0" "" "" "" ""
"00207232" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "F" "" "Denmark" "" "0" "" "" "" ""
"00207233" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%; FHM attack triggered by minor head trauma" "M" "" "Denmark" "" "0" "" "" "" ""
"00207234" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "M" "" "Denmark" "" "0" "" "" "" ""
"00207235" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "M" "" "Denmark" "" "0" "" "" "" ""
"00207236" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "M" "" "Denmark" "" "0" "" "" "" ""
"00207237" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "M" "" "Denmark" "" "0" "" "" "" ""
"00207238" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "M" "" "Denmark" "" "0" "" "" "" ""
"00207239" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%" "M" "" "Denmark" "" "0" "" "" "" ""
"00207240" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%; In this family subject P12 with FHM, did not have the variant." "M" "" "Denmark" "" "0" "" "" "" ""
"00207241" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%; In this family subject P12 with FHM, did not have the variant." "F" "" "Denmark" "" "0" "" "" "" ""
"00207242" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%; In this family subject P12 with FHM, did not have the variant." "F" "" "Denmark" "" "0" "" "" "" ""
"00207243" "" "" "" "1" "" "00753" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 12/19=63%; In this family subject P12 with FHM, did not have the variant." "F" "" "Denmark" "" "0" "" "" "" ""
"00207244" "" "" "" "1" "" "00753" "{PMID:Castro 2008:18028456}" "" "F" "" "Portugal" "" "0" "" "" "" ""
"00207245" "" "" "" "1" "" "00753" "{PMID:Castro 2008:18028456}" "also severe mental impairment (SMI); one of the several headache attacks was precipitated by head trauma" "M" "" "Portugal" "" "0" "" "flunarizine" "" ""
"00207246" "" "" "" "1" "" "00753" "{PMID:Castro 2008:18028456}" "also mild mental impairment (MMI)" "M" "" "Portugal" "" "0" "" "flunarizine" "" ""
"00207247" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "30% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207248" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "5% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207249" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "60% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207250" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "M" "" "Belgium" "" "0" "" "" "" ""
"00207251" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "M" "" "Belgium" "" "0" "" "" "" ""
"00207252" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "isolated unprovoked epileptic seizure" "F" "" "Belgium" "" "0" "" "" "" ""
"00207253" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "M" "" "Belgium" "" "0" "" "" "" ""
"00207254" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "Occipitotemporal lobe epilepsy w secondary hippocampal sclerosis" "F" "" "Belgium" "" "0" "" "" "" ""
"00207255" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "F" "" "Belgium" "" "0" "" "" "" ""
"00207256" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "F" "" "Belgium" "" "0" "" "" "" ""
"00207257" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "M" "" "Belgium" "" "0" "" "" "" ""
"00207258" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "M" "" "Belgium" "" "0" "" "" "" ""
"00207259" "" "" "" "11" "" "00753" "{PMID:Castro 2008:18028456}" "only epilepsy since age of 20, never headache episodes" "M" "" "Belgium" "" "0" "" "" "" ""
"00207260" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "severe FHM" "F" "" "Belgium" "" "0" "" "" "" ""
"00207261" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "severe FHM attacks, epileptic seizures independent from FHM attack" "M" "" "Belgium" "" "0" "" "" "" ""
"00207262" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "F" "" "Belgium" "" "0" "" "" "" ""
"00207263" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "M" "" "Belgium" "" "0" "" "" "" ""
"00207264" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "M" "" "Belgium" "" "0" "" "" "" ""
"00207265" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "M" "" "Belgium" "" "0" "" "" "" ""
"00207266" "" "" "" "1" "" "00753" "{PMID:Deprez 2008:18028407}" "" "F" "" "Belgium" "" "0" "" "" "" ""
"00207267" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "35% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207268" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "30% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207269" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "40% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207270" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "20% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207271" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "5% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207272" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "15% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207273" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "20% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207274" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "no heterozygous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207275" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "no heterozygous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207276" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "15% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207277" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "no heterozygous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207278" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "15% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207279" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "" "" "" "" "" "0" "" "" "European" ""
"00207280" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "20% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207281" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "20% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207282" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "20% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207283" "" "" "" "1" "" "00753" "{PMID:Riant 2005:16088919}" "20% heterozugous patients (40 chromosomes tested)" "" "" "" "" "0" "" "" "European" ""
"00207284" "" "" "" "1" "" "00753" "{PMID:de Vries 2007:18056581}" "p.Glu120Ala, was present in one relative who had no hemiplegic attacks, thus suggesting incomplete penetrance; Glu120Ala mutant gave partial cell survival compared to the wt, in survival assay in HeLa cells." "F" "" "" "" "0" "" "" "Europe, west" ""
"00207285" "" "" "" "1" "" "00753" "{PMID:de Vries 2007:18056581}" "p.Glu492Lys, was present in one relative who had no hemiplegic attacks, thus suggesting incomplete penetrance; Glu492Lys mutant gave partial cell survival compared to the wt, in survival assay in HeLa cells" "M" "" "" "" "0" "" "" "Europe, west" ""
"00207286" "" "" "" "1" "" "00753" "{PMID:de Vries 2007:18056581}" "The p.Pro786Leu mutation was not present in the proband\'s parents, false paternity was excluded in this case. Thus, p.Pro786Leu represents a de novo mutation and could be the founder of a new FHM family; Pro786leu mutant gave no cell survival compared to the wt, in survival assay in HeLa cells" "M" "" "" "" "0" "" "" "Europe, west" ""
"00207287" "" "" "" "1" "" "00753" "{PMID:de Vries 2007:18056581}" "In the proband, attacks triggered by minor head trauma. p.Arg834Ter, was present in two relatives who had no hemiplegic attacks, thus suggesting incomplete penetrance; Arg834Ter mutant gave no cell survival compared to the wt, in survival assay in HeLa cells;" "M" "" "" "" "0" "" "" "Europe, west" ""
"00207288" "" "" "" "1" "" "00753" "{PMID:de Vries 2007:18056581}" "The proband had basilar artery migraine symptoms. p.Arg908Gln was not present in the proband\'s mother, but DNA from additional family members was not available; p.Arg908Gln mutant gave no cell survival compared to the wt, in survival assay in HeLa cells" "M" "" "" "" "0" "" "" "Europe, west" ""
"00207289" "" "" "" "1" "" "00753" "{PMID:Jen 2007:17435187}" "The young boy developed headache, somnolence, confusion and left hemiplegia after contracting a viral gastroenteritis, manifested by nausea,vomiting and diarrhoea. He rimained densely hemiplegic for 7 days but hemiplegia gradually resolved over the next few weeks; Six days after the onset of hemiplegia, had a generalised tonic-clonic seizure that was treated with phenytoin; The Asn717Lys arose de novo since neither parent had the mutation and paternity was confirmed; The child had a prior history of episodes of more typical hemiplegic migraine,lasting about 30 min followed by unilateral headache,often induced by minor head trauma.There was no family history of hemiplegic migraine." "M" "" "" "" "0" "" "" "white" ""
"00207290" "" "" "" "1" "" "00753" "{PMID:Jen 2007:17435187}" "The young girl struck her head while skating without losing consciousness. She developed headache a few hours later and, 2-3 hours after that, she developed right-sided numbness and hemiplegia with a global aphasia. Her symptoms persisted for 10 days." "F" "" "" "" "0" "" "" "white" ""
"00207291" "" "" "" "1" "" "00753" "{PMID:Thomsen 2008:18513263}" "The patient is affected by sporadic hemiplegic migraine (SHM)" "F" "" "Denmark" "" "0" "" "no treatment known" "" ""
"00207292" "" "" "" "1" "" "00753" "{PMID:Tonelli 2007:17877748}" "The patient was affected by sporadic hemiplegic migraine (SHM). Triggering factors of hemiplagic migraine: emotional stress" "F" "" "Italy" "" "0" "" "" "" ""
"00207293" "" "" "" "1" "" "00753" "{PMID:Thomsen 2008:18513263}" "Tha patient is affected by Sporadic Hemiplegic Migraine" "F" "" "Denmark" "" "0" "" "no treatment known" "" ""
"00207294" "" "" "" "1" "" "00753" "{PMID:Thomsen 2008:18513263}" "The patient was affected by sporadic hemiplegic migraine (SHM)" "M" "" "Denmark" "" "0" "" "no treatment known" "" ""
"00207295" "" "" "" "1" "" "00753" "{PMID:Ambrosini 2005:16344534}" "He was diagnosed with Basilar Migraine" "M" "" "Italy" "" "0" "" "" "" ""
"00207296" "" "" "" "1" "" "00753" "{PMID:Ambrosini 2005:16344534}" "He received a diagnosis of probable (Basilar) Migraine" "M" "" "Italy" "" "0" "" "" "" ""
"00207297" "" "" "" "1" "" "00753" "{PMID:Ambrosini 2005:16344534}" "" "M" "" "Italy" "" "0" "" "" "" ""
"00207298" "" "" "" "1" "" "00753" "{PMID:Ambrosini 2005:16344534}" "The patient received a diagnosis of Basilar Migraine." "M" "" "Italy" "" "0" "" "" "" ""
"00207299" "" "" "" "1" "" "00753" "{PMID:Thomsen 2008:18513263}" "The patient was affected by sporadic hemiplegic migraine (SHM)" "F" "" "Denmark" "" "0" "" "no treatment known" "" ""
"00207300" "" "" "" "1" "" "00753" "{PMID:Gallanti 2008:18644608}" "Patient with Sporadic Hemiplegic Migraine (de novo). The patient also had a history of epilepsy started in the childhood at the age of 5 years. A total of four episodes, the first was apparently triggered by a mild head trauma. Epilepsy was successfully treated with valproic acid for 2 years." "F" "" "Italy" "" "0" "" "nonsteroidal anti-inflammatory drugs, improved" "white" ""
"00207301" "" "" "" "1" "" "00753" "{PMID:de Vries 2009:19874388}" "The patient (mother of III-1, -2) has 2 simple febrile seizures at age 2 and also attacks fo hemoplegic migraine." "F" "" "" "" "0" "" "" "white" ""
"00207302" "" "" "" "1" "" "00753" "{PMID:de Vries 2009:19874388}" "This patient experienced, from the age of 9 months to 3 years, five complex, febrile seizures and one simple febrile seizure; From the age of 7 months to 5 years, he also experienced several nonfebrile seizures. ; Seizures stopped at age 5; From age 2,5 he experienced headache attacks accompanied by transient hemiparesis as well as frequent unprovoked episodes of ataxia lasting a few minutes to days. He had episodes of drowsiness down to Glasgow Coma Scale 6-7." "M" "" "" "" "0" "" "" "white" ""
"00207303" "" "" "" "1" "" "00753" "{PMID:de Vries 2009:19874388}" "The patient had one complex (focal) febrile seizure lasting 15 min when he was 7 months old. Since the age of 21 months he had episodes of hemiplegia, and recurrent encephalopathic episodes often preceded by headache and hemiplegia, and one episodes of unsteadiness after minor head injury." "M" "" "" "" "0" "" "" "white" ""
"00207801" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" ""
"00208843" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" ""
"00289560" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304153" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00305555" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" ""
"00324879" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam13"
"00374214" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0549"
"00436162" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "268515"
"00453082" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat38"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 294
"{{individualid}}" "{{diseaseid}}"
"00034826" "00198"
"00034836" "00198"
"00108543" "02427"
"00108544" "02427"
"00108545" "02427"
"00108546" "02427"
"00108547" "02427"
"00108548" "02427"
"00108549" "02427"
"00108550" "02427"
"00108551" "02427"
"00108552" "02427"
"00108553" "02427"
"00108554" "02427"
"00108555" "02427"
"00108556" "02427"
"00108557" "02427"
"00108558" "01170"
"00108559" "02427"
"00108560" "02427"
"00108561" "02427"
"00108562" "02427"
"00108563" "02427"
"00108564" "02427"
"00108565" "02427"
"00108566" "02427"
"00108567" "02427"
"00108568" "02427"
"00108569" "02427"
"00108570" "02427"
"00108571" "02427"
"00108572" "02427"
"00108573" "02427"
"00108574" "02427"
"00108575" "02427"
"00108576" "02427"
"00108577" "02427"
"00108578" "02427"
"00108579" "02427"
"00108580" "02427"
"00108581" "02427"
"00108582" "02427"
"00108583" "02427"
"00108584" "02427"
"00108585" "02427"
"00108586" "02427"
"00108587" "02427"
"00108588" "02427"
"00108589" "02427"
"00108590" "02427"
"00108592" "00198"
"00108593" "00198"
"00108594" "00198"
"00108595" "00198"
"00108596" "00198"
"00108597" "00198"
"00108598" "00198"
"00108599" "00198"
"00108600" "00198"
"00108601" "00198"
"00108602" "00198"
"00108603" "00198"
"00108604" "00198"
"00108605" "00198"
"00108606" "00198"
"00108607" "00198"
"00108608" "00198"
"00108609" "00198"
"00108610" "00198"
"00108611" "02427"
"00108612" "02427"
"00207087" "05520"
"00207088" "05520"
"00207089" "05520"
"00207090" "05520"
"00207091" "05520"
"00207092" "05520"
"00207093" "05520"
"00207094" "00198"
"00207095" "05520"
"00207096" "05520"
"00207097" "05520"
"00207098" "05520"
"00207099" "05520"
"00207100" "05520"
"00207101" "05520"
"00207102" "00198"
"00207103" "05520"
"00207104" "05520"
"00207105" "05520"
"00207106" "05520"
"00207107" "05520"
"00207108" "05520"
"00207109" "05520"
"00207110" "05520"
"00207111" "05520"
"00207112" "05520"
"00207113" "05520"
"00207114" "05520"
"00207115" "05520"
"00207116" "05520"
"00207117" "05520"
"00207118" "05520"
"00207119" "05520"
"00207120" "05520"
"00207121" "05520"
"00207122" "05520"
"00207123" "05520"
"00207124" "05520"
"00207125" "05520"
"00207126" "05520"
"00207127" "05520"
"00207129" "05520"
"00207130" "05520"
"00207131" "05520"
"00207132" "05520"
"00207133" "05520"
"00207134" "05520"
"00207135" "05520"
"00207136" "05520"
"00207137" "05520"
"00207138" "00198"
"00207139" "05520"
"00207140" "05520"
"00207141" "00198"
"00207142" "05520"
"00207143" "05520"
"00207144" "05520"
"00207145" "00198"
"00207146" "05520"
"00207147" "05520"
"00207148" "05520"
"00207149" "05520"
"00207150" "05520"
"00207151" "05520"
"00207152" "05520"
"00207153" "05520"
"00207154" "00198"
"00207155" "05520"
"00207156" "00198"
"00207157" "05520"
"00207158" "05520"
"00207159" "05520"
"00207160" "05520"
"00207161" "05520"
"00207162" "05520"
"00207163" "05520"
"00207164" "05520"
"00207165" "05520"
"00207166" "05520"
"00207167" "05520"
"00207168" "05520"
"00207169" "05520"
"00207170" "05520"
"00207171" "05520"
"00207172" "05520"
"00207173" "05520"
"00207174" "05520"
"00207175" "05520"
"00207176" "05520"
"00207177" "00198"
"00207178" "05520"
"00207179" "05520"
"00207180" "05520"
"00207181" "05521"
"00207182" "05520"
"00207183" "05521"
"00207184" "05520"
"00207185" "05520"
"00207186" "05520"
"00207187" "05520"
"00207188" "05520"
"00207189" "05521"
"00207190" "05520"
"00207191" "05520"
"00207192" "05520"
"00207193" "05520"
"00207194" "05520"
"00207195" "05520"
"00207196" "05520"
"00207197" "05520"
"00207198" "05520"
"00207199" "05520"
"00207200" "05520"
"00207201" "05520"
"00207202" "05520"
"00207203" "05520"
"00207204" "05520"
"00207205" "05520"
"00207206" "05520"
"00207207" "05520"
"00207208" "05520"
"00207209" "05520"
"00207210" "05520"
"00207211" "05520"
"00207212" "05520"
"00207213" "05520"
"00207214" "05520"
"00207215" "05520"
"00207216" "05520"
"00207217" "05520"
"00207218" "05520"
"00207219" "05520"
"00207220" "05520"
"00207221" "05520"
"00207222" "05520"
"00207223" "05520"
"00207224" "05520"
"00207225" "05520"
"00207226" "05520"
"00207227" "05520"
"00207228" "05520"
"00207229" "05520"
"00207230" "05520"
"00207231" "05520"
"00207232" "05520"
"00207233" "05520"
"00207234" "05520"
"00207235" "05520"
"00207236" "05520"
"00207237" "05520"
"00207238" "05520"
"00207239" "05520"
"00207240" "05520"
"00207241" "05520"
"00207242" "05520"
"00207243" "05520"
"00207244" "05520"
"00207245" "05520"
"00207246" "05520"
"00207247" "05520"
"00207248" "05520"
"00207249" "05520"
"00207250" "05520"
"00207251" "05520"
"00207252" "05520"
"00207253" "05520"
"00207254" "05520"
"00207255" "05520"
"00207256" "05520"
"00207257" "05520"
"00207258" "05520"
"00207259" "05520"
"00207260" "05520"
"00207261" "05520"
"00207262" "05520"
"00207263" "05520"
"00207264" "05520"
"00207265" "05520"
"00207266" "05520"
"00207267" "05520"
"00207268" "05520"
"00207269" "05520"
"00207270" "05520"
"00207271" "05520"
"00207272" "05520"
"00207273" "05520"
"00207274" "05520"
"00207275" "05520"
"00207276" "05520"
"00207277" "05520"
"00207278" "05520"
"00207279" "05520"
"00207280" "05520"
"00207281" "05520"
"00207282" "05520"
"00207283" "05520"
"00207284" "05520"
"00207285" "05520"
"00207286" "05520"
"00207287" "05520"
"00207288" "05520"
"00207289" "05520"
"00207290" "05520"
"00207291" "05520"
"00207292" "05520"
"00207293" "05520"
"00207294" "05520"
"00207295" "05520"
"00207296" "05520"
"00207297" "05520"
"00207298" "05520"
"00207299" "05520"
"00207300" "05520"
"00207301" "05520"
"00207302" "05520"
"00207303" "05520"
"00289560" "00198"
"00304153" "00198"
"00305555" "02427"
"00324879" "05611"
"00374214" "00198"
"00436162" "01170"
"00453082" "05611"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01170, 02427, 05520, 05521, 05611
## Count = 235
"{{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}}"
"0000086078" "02427" "00108543" "01534" "Unknown" "" "migraine, sporadic hemiplegic" "" "" "" "" "" "" "" "" "" "" ""
"0000086079" "02427" "00108612" "01534" "Unknown" "" "migraine, sporadic hemiplegic" "" "" "" "" "" "" "" "" "" "" ""
"0000086081" "02427" "00108590" "01534" "Unknown" "" "migraine, sporadic hemiplegic" "" "" "" "" "" "" "" "" "" "" ""
"0000086082" "02427" "00108562" "01534" "Unknown" "" "migraine, sporadic hemiplegic" "" "" "" "" "" "" "" "" "" "" ""
"0000086083" "02427" "00108560" "01534" "Unknown" "" "Basilar-type migraine" "" "" "" "" "" "" "" "" "" "" ""
"0000086084" "02427" "00108545" "01534" "Unknown" "" "migraine, sporadic hemiplegic" "" "" "" "" "" "" "" "" "" "" ""
"0000086085" "02427" "00108563" "01534" "Unknown" "" "migraine, sporadic hemiplegic" "" "" "" "" "" "" "" "" "" "" ""
"0000086086" "02427" "00108589" "01534" "Unknown" "" "migraine, sporadic hemiplegic" "" "" "" "" "" "" "" "" "" "" ""
"0000086087" "02427" "00108564" "01534" "Unknown" "" "migraine, sporadic hemiplegic" "" "" "" "" "" "" "" "" "" "" ""
"0000086088" "02427" "00108588" "01534" "Unknown" "" "migraine, sporadic hemiplegic" "" "" "" "" "" "" "" "" "" "" ""
"0000086089" "02427" "00108565" "01534" "Unknown" "" "migraine, sporadic hemiplegic" "" "" "" "" "" "" "" "" "" "" ""
"0000154883" "05520" "00207087" "00753" "-" "50y" "1st hemiplegic migraine attack 30y, duration 1st aura 3-5hmin, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 3-4h, 1st HMA moderate" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154884" "05520" "00207088" "00753" "-" "44y" "1st hemiplegic migraine attack 40y, duration 1st aura 1-3dmin, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 5-6h, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000154885" "05520" "00207089" "00753" "-" "39y" "1st hemiplegic migraine attack 14y, duration 1st aura 1-3dmin, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 3-4h, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000154886" "05520" "00207090" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154887" "05520" "00207091" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000154888" "05520" "00207092" "00753" "-" "" "1st hemiplegic migraine attack 52y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; PermCer status nystagmus, dysarthria, ataxia, MRI(72 years) marked cerebellar and vermis atrophy" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura;" ""
"0000154889" "05520" "00207093" "00753" "-" "" "1st hemiplegic migraine attack 25y, 1st HMA hemiparesis left, 1st HMA hemiparesis right, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; 1st severe attack 25y, 1st severe attack signs Somnolence/fever/epileptic Seizures; PermCer status nystagmus, dysarthria, ataxia, MRI diffuse edema;cerebellar signs" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Visual Aura; Epileptic Seizures" ""
"0000154890" "00198" "00207094" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Carrier" ""
"0000154891" "05520" "00207095" "00753" "-" "" "1st hemiplegic migraine attack 29y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; 1st severe attack signs mild coma/fever" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Epileptic Seizures" ""
"0000154892" "05520" "00207096" "00753" "-" "" "1st hemiplegic migraine attack 21y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; 1st severe attack signs mild coma/fever" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Epileptic Seizures" ""
"0000154893" "05520" "00207097" "00753" "-" "" "1st hemiplegic migraine attack 34y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154894" "05520" "00207098" "00753" "-" "" "1st hemiplegic migraine attack 12y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 12y, 1st severe attack hemiparesis not left, 1st severe attack hemiparesis right, 1st severe attack signs confusion/mild coma/fever/epileptic Seizures" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Visual Aura; Epileptic Seizures" ""
"0000154895" "05520" "00207099" "00753" "-" "" "1st hemiplegic migraine attack 6y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs Somnolence/confusion/mild coma/fever" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Visual Aura" ""
"0000154896" "05520" "00207100" "00753" "-" "" "1st hemiplegic migraine attack 26y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Visual Aura" ""
"0000154897" "05520" "00207101" "00753" "-" "" "1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA mild" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154898" "00198" "00207102" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Carrier" ""
"0000154899" "05520" "00207103" "00753" "-" "76y" "1st hemiplegic migraine attack 13y, duration 1st aura 15min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154900" "05520" "00207104" "00753" "-" "62y" "1st hemiplegic migraine attack 5y, duration 1st aura 15min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154901" "05520" "00207105" "00753" "-" "51y" "1st hemiplegic migraine attack 7y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154902" "05520" "00207106" "00753" "-" "49y" "1st hemiplegic migraine attack 14y, duration 1st aura 600min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154903" "05520" "00207107" "00753" "-" "48y" "1st hemiplegic migraine attack 12y, duration 1st aura 15min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154904" "05520" "00207108" "00753" "-" "36y" "1st hemiplegic migraine attack 8y, duration 1st aura 60min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154905" "05520" "00207109" "00753" "-" "" "unaffected" "" "" "" "" "" "" "" "" "" "unaffected" ""
"0000154906" "05520" "00207110" "00753" "-" "15y" "1st hemiplegic migraine attack 10y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154907" "05520" "00207111" "00753" "-" "28y" "1st hemiplegic migraine attack 14y, duration 1st aura 20min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154908" "05520" "00207112" "00753" "-" "17y" "1st hemiplegic migraine attack 6y, duration 1st aura 10min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154909" "05520" "00207113" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154910" "05520" "00207114" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154911" "05520" "00207115" "00753" "-" "" "1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "AHC-1" "alternating hemiplegia of childhood; Generalized Epilepsy; Mental Retardation" ""
"0000154912" "05520" "00207116" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "AHC-1" "alternating hemiplegia of childhood; Generalized Epilepsy; Mental Retardation" ""
"0000154913" "05520" "00207117" "00753" "-" "" "1st hemiplegic migraine attack 2y, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "AHC-1" "alternating hemiplegia of childhood; Generalized Epilepsy; Mental Retardation" ""
"0000154914" "05520" "00207118" "00753" "-" "" "1st hemiplegic migraine attack 1y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "AHC-1" "alternating hemiplegia of childhood; Generalized Epilepsy; Mental Retardation" ""
"0000154915" "05520" "00207119" "00753" "-" "" "1st hemiplegic migraine attack 11y, duration 1st aura 300min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154916" "05520" "00207120" "00753" "-" "68y" "1st hemiplegic migraine attack 13y, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA confusion/somnolence, 1st HMA duration headache 2d" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154917" "05520" "00207121" "00753" "-" "47y" "1st hemiplegic migraine attack 13y, duration 1st aura 15min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 48h; 1st severe attack 13y, duration aura 4, 1st severe attack signs confusion/fever" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154918" "05520" "00207122" "00753" "-" "" "1st hemiplegic migraine attack 7y, duration 1st aura 60min, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4d" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154919" "05520" "00207123" "00753" "-" "20y" "1st hemiplegic migraine attack 4y, duration 1st aura 15min, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 5y, 1st severe attack signs confusion/fever/epileptic seizures" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; generalized tonic-clonic seizures" ""
"0000154920" "05520" "00207124" "00753" "-" "48y" "1st hemiplegic migraine attack 4y, duration 1st aura 30min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000154921" "05520" "00207125" "00753" "-" "23y" "1st hemiplegic migraine attack 17y, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000154922" "05520" "00207126" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154923" "05520" "00207127" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154925" "05520" "00207129" "00753" "-" "9y" "1st hemiplegic migraine attack 9y, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 2d, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154926" "05520" "00207130" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154927" "05520" "00207131" "00753" "-" "" "episodes sometimes provoked by phisical exercise or a fall on the head; 1st hemiplegic migraine attack 3y, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154928" "05520" "00207132" "00753" "-" "9y" "1st hemiplegic migraine attack 4y, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA visual disturbances, 1st HMA confusion/somnolence; 1st severe attack 4y, 1st severe attack signs Somnolence/confusion/fever/epileptic seizures" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Mental Retardation" ""
"0000154929" "05520" "00207133" "00753" "-" "47y" "1st hemiplegic migraine attack 13y, duration 1st aura 30min, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154930" "05520" "00207134" "00753" "-" "26y" "1st hemiplegic migraine attack 18y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000154931" "05520" "00207135" "00753" "-" "26y" "1st hemiplegic migraine attack 13y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154932" "05520" "00207136" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154933" "05520" "00207137" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154934" "00198" "00207138" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Carrier" ""
"0000154935" "05520" "00207139" "00753" "-" "" "1st hemiplegic migraine attack 14y, duration 1st aura 105min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154936" "05520" "00207140" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154937" "00198" "00207141" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Carrier" ""
"0000154938" "05520" "00207142" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine without Aura" ""
"0000154939" "05520" "00207143" "00753" "-" "" "1st hemiplegic migraine attack 14y, duration 1st aura 60min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154940" "05520" "00207144" "00753" "-" "" "1st hemiplegic migraine attack 10y, duration 1st aura 60min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; benign familial infantile convulsions" ""
"0000154941" "00198" "00207145" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Carrier" ""
"0000154942" "05520" "00207146" "00753" "-" "" "1st hemiplegic migraine attack 18y, duration 1st aura 120min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; benign familial infantile convulsions" ""
"0000154943" "05520" "00207147" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura" ""
"0000154944" "05520" "00207148" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine without Aura" ""
"0000154945" "05520" "00207149" "00753" "-" "" "1st hemiplegic migraine attack 19y, duration 1st aura 120min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000154946" "05520" "00207150" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine without Aura" ""
"0000154947" "05520" "00207151" "00753" "-" "" "1st hemiplegic migraine attack 10y, duration 1st aura 75min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA confusion/somnolence, 1st HMA duration headache 720min" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; benign familial infantile convulsions" ""
"0000154948" "05520" "00207152" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine without Aura" ""
"0000154949" "05520" "00207153" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 4y, 1st severe attack signs confusion" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000154950" "00198" "00207154" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Carrier" ""
"0000154951" "05520" "00207155" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura" ""
"0000154952" "00198" "00207156" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "benign familial infantile convulsions" ""
"0000154953" "05520" "00207157" "00753" "-" "72y" "cold weather and stress were potent attack triggers; 1st hemiplegic migraine attack 6y, duration 1st aura 60min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 180min" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154954" "05520" "00207158" "00753" "-" "48y" "1st hemiplegic migraine attack 10y, duration 1st aura 30min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1d, 1st HMA moderate; 1st severe attack signs confusion" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154955" "05520" "00207159" "00753" "-" "47y" "1st hemiplegic migraine attack 10y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs Somnolence/confusion" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154956" "05520" "00207160" "00753" "-" "" "1st hemiplegic migraine attack 10y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA confusion/somnolence, 1st HMA duration headache 420min" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000154957" "05520" "00207161" "00753" "-" "" "1st hemiplegic migraine attack 8y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura; Tension-type Headache" ""
"0000154958" "05520" "00207162" "00753" "-" "" "1st hemiplegic migraine attack 12y, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000154959" "05520" "00207163" "00753" "-" "" "1st hemiplegic migraine attack 4y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, no dysarthria, no ataxia, Bilateral cerebellar infarcts on MRI" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Obesity" ""
"0000154960" "05520" "00207164" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine without Aura" ""
"0000154961" "05520" "00207165" "00753" "-" "" "1st hemiplegic migraine attack 10y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 10y, duration aura 14, 1st severe attack signs complex visual and auditory delusions; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Obesity" ""
"0000154962" "05520" "00207166" "00753" "-" "" "1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 3y, duration aura 6, 1st severe attack signs confusion/fever; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Epileptic Seizures; Mental Retardation" ""
"0000154963" "05520" "00207167" "00753" "-" "72y" "1st hemiplegic migraine attack 15y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA mild" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154964" "05520" "00207168" "00753" "-" "46y" "1st hemiplegic migraine attack 10y, duration 1st aura 15min, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA moderate" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura" ""
"0000154965" "05520" "00207169" "00753" "-" "31y" "1st hemiplegic migraine attack 11y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154966" "05520" "00207170" "00753" "-" "28y" "1st hemiplegic migraine attack 9y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA mild" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154967" "05520" "00207171" "00753" "-" "" "1st hemiplegic migraine attack 9y, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154968" "05520" "00207172" "00753" "-" "" "1st hemiplegic migraine attack 11y, duration 1st aura 15min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Aura" ""
"0000154969" "05520" "00207173" "00753" "-" "" "1st hemiplegic migraine attack 7y, 1st HMA hemiparesis left, 1st HMA hemiparesis right, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154970" "05520" "00207174" "00753" "-" "" "1st hemiplegic migraine attack 14y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154971" "05520" "00207175" "00753" "-" "" "1st hemiplegic migraine attack 3y, duration 1st aura 30min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154972" "05520" "00207176" "00753" "-" "" "1st hemiplegic migraine attack duration 1st aura 210min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 13y, 1st severe attack signs confusion/complex visual and auditory delusions/fever; PermCer status, White matter lesions" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154973" "00198" "00207177" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Carrier" ""
"0000154974" "05520" "00207178" "00753" "-" "" "1st hemiplegic migraine attack 7y, duration 1st aura 42min, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154975" "05520" "00207179" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154976" "05520" "00207180" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura; Mild Mental Retardation" ""
"0000154977" "05521" "00207181" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Epileptic Seizures" ""
"0000154978" "05520" "00207182" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura" ""
"0000154979" "05521" "00207183" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Epileptic Seizures" ""
"0000154980" "05520" "00207184" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Epileptic Seizures; Migraine with Aura; Mild Mental Retardation" ""
"0000154981" "05520" "00207185" "00753" "-" "" "1st hemiplegic migraine attack 41y, duration 1st aura 30min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 720min" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000154982" "05520" "00207186" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154983" "05520" "00207187" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154984" "05520" "00207188" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154985" "05521" "00207189" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Epileptic Seizures" ""
"0000154986" "05520" "00207190" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "Epileptic Seizures; Migraine with Aura" ""
"0000154987" "05520" "00207191" "00753" "-" "" "1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 0y, duration aura 20, 1st severe attack signs confusion/Severe coma/fever" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154988" "05520" "00207192" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154989" "05520" "00207193" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154990" "05520" "00207194" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154991" "05520" "00207195" "00753" "-" "" "1st hemiplegic migraine attack 20y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine;" ""
"0000154992" "05520" "00207196" "00753" "-" "" "1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 23y, duration aura 2, 1st severe attack signs confusion; PermCer status nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" ""
"0000154993" "05520" "00207197" "00753" "-" "" "1st hemiplegic migraine attack 4y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Memory Disturbance; Epileptic Seizures" ""
"0000154994" "05520" "00207198" "00753" "-" "" "1st hemiplegic migraine attack 6y, duration 1st aura 15min, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 180min" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154995" "05520" "00207199" "00753" "-" "" "1st hemiplegic migraine attack 3y, duration 1st aura 30min, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 0y, duration aura 12, 1st severe attack signs mild coma; PermCer status nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura; Mental Retardation" ""
"0000154996" "05520" "00207200" "00753" "-" "77y" "childhood seizures; 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000154997" "05520" "00207201" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks, single episodes of childhood febrile convulsions.; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000154998" "05520" "00207202" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000154999" "05520" "00207203" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000155000" "05520" "00207204" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks, mild cerebellar signs including subtle intention tremor and nystagmus; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000155001" "05520" "00207205" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks, mild cerebellar signs including subtle intention tremor and nystagmus; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000155002" "05520" "00207206" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000155003" "05520" "00207207" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks, mild cerebellar signs including subtle intention tremor and nystagmus; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000155004" "05520" "00207208" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks, mild cerebellar signs including subtle intention tremor and nystagmus, MRI brain was normal; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" ""
"0000155005" "05520" "00207209" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155006" "05520" "00207210" "00753" "-" "" "1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000155007" "05520" "00207211" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" ""
"0000155008" "05520" "00207212" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" ""
"0000155009" "05520" "00207213" "00753" "-" "" "childhood seizures/childhood absence seizures, dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks, mild cerebellar signs including subtle intention tremor and nystagmus; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000155010" "05520" "00207214" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" ""
"0000155011" "05520" "00207215" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness, epilepsy, mental retardation and complex partial seizures with secondary generalization; 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155012" "05520" "00207216" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks; 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000155013" "05520" "00207217" "00753" "-" "" "dysarthria, gait ataxia, upper limb clumsiness during hemiplegic migraine attacks; 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" ""
"0000155014" "05520" "00207218" "00753" "-" "" "1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" ""
"0000155015" "05520" "00207219" "00753" "-" "" "childhood seizures; absence seizures in childhood; 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000155016" "05520" "00207220" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 16y, duration aura 3, 1st severe attack signs confusion; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Obesity" ""
"0000155017" "05520" "00207221" "00753" "-" "" "1st hemiplegic migraine attack 5y, duration 1st aura 180min, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 180min" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000155018" "05520" "00207222" "00753" "-" "40y" "1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000155019" "05520" "00207223" "00753" "-" "20y" "1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155020" "05520" "00207224" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155021" "05520" "00207225" "00753" "-" "38y" "1st hemiplegic migraine attack 7y, duration 1st aura 45min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1-3d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155022" "05520" "00207226" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Tension-type Headache" ""
"0000155023" "05520" "00207227" "00753" "-" "12y" "1st hemiplegic migraine attack 7y, duration 1st aura 60min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1-3d" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000155024" "05520" "00207228" "00753" "-" "10y" "1st hemiplegic migraine attack 8y, duration 1st aura 1200min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155025" "05520" "00207229" "00753" "-" "62y" "1st hemiplegic migraine attack 45y, duration 1st aura 45min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155026" "05520" "00207230" "00753" "-" "71y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura" ""
"0000155027" "05520" "00207231" "00753" "-" "50y" "1st hemiplegic migraine attack 10y, duration 1st aura 1200min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000155028" "05520" "00207232" "00753" "-" "48y" "1st hemiplegic migraine attack 30y, duration 1st aura 1600min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 3-7d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" ""
"0000155029" "05520" "00207233" "00753" "-" "53y" "1st hemiplegic migraine attack 16y, duration 1st aura 60min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000155030" "05520" "00207234" "00753" "-" "52y" "1st hemiplegic migraine attack 35y, duration 1st aura 120min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura" ""
"0000155031" "05520" "00207235" "00753" "-" "26y" "1st hemiplegic migraine attack 22y, duration 1st aura 20min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155032" "05520" "00207236" "00753" "-" "27y" "1st hemiplegic migraine attack 25y, duration 1st aura 1200min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" ""
"0000155033" "05520" "00207237" "00753" "-" "33y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura" ""
"0000155034" "05520" "00207238" "00753" "-" "22y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura" ""
"0000155035" "05520" "00207239" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155036" "05520" "00207240" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Tension-type Headache" ""
"0000155037" "05520" "00207241" "00753" "-" "13y" "1st hemiplegic migraine attack 10y, duration 1st aura 660min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1-3d" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000155038" "05520" "00207242" "00753" "-" "37y" "1st hemiplegic migraine attack 8y, duration 1st aura 180min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Migraine without Aura" ""
"0000155039" "05520" "00207243" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura; Migraine without Aura" ""
"0000155040" "05520" "00207244" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine without Aura" ""
"0000155041" "05520" "00207245" "00753" "-" "15y" "1st hemiplegic migraine attack 7y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 7y, 1st severe attack signs mild coma/fever" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Mental Retardation" ""
"0000155042" "05520" "00207246" "00753" "-" "" "1st hemiplegic migraine attack 4y, duration 1st aura 4dmin, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; 1st severe attack 4y, 1st severe attack signs mild coma/fever" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; Mental Retardation" ""
"0000155043" "05520" "00207247" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155044" "05520" "00207248" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155045" "05520" "00207249" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155046" "05520" "00207250" "00753" "-" "" "unaffected" "" "" "" "" "" "" "" "" "" "unaffected" ""
"0000155047" "05520" "00207251" "00753" "-" "" "unaffected" "" "" "" "" "" "" "" "" "" "unaffected" ""
"0000155048" "05520" "00207252" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura" ""
"0000155049" "05520" "00207253" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine without Aura; Partial Seizures" ""
"0000155050" "05520" "00207254" "00753" "-" "" "1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura" ""
"0000155051" "05520" "00207255" "00753" "-" "" "unaffected" "" "" "" "" "" "" "" "" "" "unaffected" ""
"0000155052" "05520" "00207256" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155053" "05520" "00207257" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155054" "05520" "00207258" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155055" "05520" "00207259" "00753" "-" "50y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155056" "05520" "00207260" "00753" "-" "" "1st hemiplegic migraine attack 22y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe; 1st severe attack 22y, duration aura 5, 1st severe attack signs Somnolence/Severe coma/meningism/fever/epileptic seizures" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; generalized tonic-clonic seizures; Migraine without Aura" ""
"0000155057" "05520" "00207261" "00753" "-" "46y" "1st hemiplegic migraine attack 25y, duration 1st aura 60min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 3day, 1st HMA severe; 1st severe attack 29y, 1st severe attack signs Severe coma/meningism/fever" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155058" "05520" "00207262" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155059" "05520" "00207263" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs Severe coma/meningism/fever" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155060" "05520" "00207264" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe; 1st severe attack 22y, duration aura 2, 1st severe attack signs Somnolence/meningism/fever/epileptic seizures" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine; generalized tonic-clonic seizures; Mental Retardation" ""
"0000155061" "05520" "00207265" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs fever/epileptic seizures" "" "" "" "" "" "" "" "" "FHM-2" "generalized tonic-clonic seizures; Mental Retardation" ""
"0000155062" "05520" "00207266" "00753" "-" "" "1st hemiplegic migraine attack 11y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155063" "05520" "00207267" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155064" "05520" "00207268" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155065" "05520" "00207269" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155066" "05520" "00207270" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155067" "05520" "00207271" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155068" "05520" "00207272" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155069" "05520" "00207273" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155070" "05520" "00207274" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155071" "05520" "00207275" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155072" "05520" "00207276" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155073" "05520" "00207277" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155074" "05520" "00207278" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155075" "05520" "00207279" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155076" "05520" "00207280" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155077" "05520" "00207281" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155078" "05520" "00207282" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155079" "05520" "00207283" "00753" "-" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155080" "05520" "00207284" "00753" "-" "" "1st hemiplegic migraine attack 13y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155081" "05520" "00207285" "00753" "-" "" "1st hemiplegic migraine attack 19y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155082" "05520" "00207286" "00753" "-" "" "1st hemiplegic migraine attack 5y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "?" ""
"0000155083" "05520" "00207287" "00753" "-" "" "1st hemiplegic migraine attack 10y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155084" "05520" "00207288" "00753" "-" "" "1st hemiplegic migraine attack 5y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura; Migraine without Aura" ""
"0000155085" "05520" "00207289" "00753" "-" "7y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe; 1st severe attack 7y, 1st severe attack hemiparesis eft, 1st severe attack hemiparesis not right, 1st severe attack signs Somnolence/confusion" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155086" "05520" "00207290" "00753" "-" "" "1st hemiplegic migraine attack 10y, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155087" "05520" "00207291" "00753" "-" "24y" "1st hemiplegic migraine attack 16y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d, 1st HMA moderate" "" "" "" "" "" "" "" "" "" "?" ""
"0000155088" "05520" "00207292" "00753" "-" "50y" "1st hemiplegic migraine attack 46y, duration 1st aura 1-5dmin, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 2-3h, 1st HMA severe" "" "" "" "" "" "" "" "" "" "?" ""
"0000155089" "05520" "00207293" "00753" "-" "23y" "1st hemiplegic migraine attack 13y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d, 1st HMA moderate" "" "" "" "" "" "" "" "" "" "?" ""
"0000155090" "05520" "00207294" "00753" "-" "17y" "1st hemiplegic migraine attack 12y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d, 1st HMA moderate" "" "" "" "" "" "" "" "" "" "?" ""
"0000155091" "05520" "00207295" "00753" "-" "50y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura" ""
"0000155092" "05520" "00207296" "00753" "-" "55y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura; Migraine without Aura" ""
"0000155093" "05520" "00207297" "00753" "-" "28y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine without Aura" ""
"0000155094" "05520" "00207298" "00753" "-" "17y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "Migraine with Aura" ""
"0000155095" "05520" "00207299" "00753" "-" "44y" "1st hemiplegic migraine attack 35y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d, 1st HMA moderate" "" "" "" "" "" "" "" "" "" "?" ""
"0000155096" "05520" "00207300" "00753" "-" "11y" "1st hemiplegic migraine attack 10y, duration 1st aura <20min, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe; 1st severe attack 10y" "" "" "" "" "" "" "" "" "FHM-2" "generalized tonic-clonic seizures; Migraine with Visual Aura" ""
"0000155097" "05520" "00207301" "00753" "-" "31y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155098" "05520" "00207302" "00753" "-" "13y" "1st hemiplegic migraine attack 2.5y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155099" "05520" "00207303" "00753" "-" "3y" "1st hemiplegic migraine attack 1.8y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "FHM-2" "familial hemiplegic migraine" ""
"0000155583" "00198" "00207801" "01164" "Unknown" "" "HP:0001357 (Plagiocephaly); HP:0100716 (Self-injurious behavior); HP:0012434 (Delayed social development); HP:0001270 (Motor delay); HP:0004684 (Talipes valgus); HP:0000752 (Hyperactivity); HP:0100543 (Cognitive impairment); HP:0001935 (Microcytic anemia); HP:0001250 (Seizures); HP:0001263 (Global developmental delay); HP:0012759 (Neurodevelopmental abnormality); HP:0000252 (Microcephaly)" "" "" "" "" "" "" "" "" "" "" ""
"0000155991" "00198" "00034826" "01164" "Unknown" "" "hemiplegic migraine" "" "" "" "" "" "" "" "" "" "hemiplegic migraine" ""
"0000155992" "00198" "00034836" "01164" "Unknown" "" "relapsing Migraine attacks with vision defect, Paraesthesia, Paresis and Aphasia, 2x consciousness disturbance, positive family history" "" "" "" "" "" "" "" "" "" "migraine" ""
"0000157452" "00198" "00208843" "01164" "Unknown" "" "HP:0002076 (Migraine)" "" "" "" "" "" "" "" "" "" "" ""
"0000243375" "05611" "00324879" "00006" "Isolated (sporadic)" "10y" "see paper; ..., birth 42w, weight +2.9SD, length +2.2SD, OFC +3.3SD; weight -0.9SD, length -1.6SD, OFC +0.2SD; moderate intellectual disability/developemental delay; hypotonia; seizures; motor delay; 36m-walk; speech delay; 18; no autistic behaviour ; no stereotypies; no hyperactivity; no anxiety; no aggressiveness; no feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
"0000269424" "00198" "00374214" "00006" "Familial, autosomal dominant" "" "Sudden onset of seizures at three months of age, with delayed milestones. MRI suggestive of pachygyria" "" "" "" "" "" "" "" "" "" "lissencephaly" ""
"0000326343" "01170" "00436162" "01164" "Unknown" "" "Generalized non-motor (absence) seizure, Intellectual disability, Ataxia" "" "17y" "" "" "" "" "" "" "" "" ""
"0000341727" "05611" "00453082" "00006" "Familial" "2y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" ""
## Screenings ## Do not remove or alter this header ##
## Count = 319
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000034890" "00034820" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034891" "00034821" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034892" "00034822" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034893" "00034823" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034894" "00034824" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034895" "00034825" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034896" "00034826" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034897" "00034827" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034898" "00034828" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034899" "00034829" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034900" "00034830" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034901" "00034831" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034902" "00034832" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034903" "00034833" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034904" "00034834" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034905" "00034835" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034906" "00034836" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034907" "00034837" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034908" "00034838" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034909" "00034839" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034910" "00034840" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034911" "00034841" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034912" "00034842" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034913" "00034843" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000034914" "00034844" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000109010" "00108596" "1" "00485" "00485" "2009-10-30 19:52:09" "" "" "SEQ" "DNA" "" ""
"0000109011" "00108595" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:30:48" "SEQ" "DNA" "" ""
"0000109012" "00108594" "1" "00485" "00485" "2009-10-30 19:52:09" "" "" "SEQ" "DNA" "" ""
"0000109013" "00108543" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:35:01" "SEQ" "DNA" "" ""
"0000109014" "00108611" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:35:01" "SEQ" "DNA" "" ""
"0000109015" "00108612" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:31:27" "SEQ" "DNA" "" ""
"0000109016" "00108597" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:34:08" "SEQ" "DNA" "" ""
"0000109017" "00108581" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:36:24" "SEQ" "DNA" "" ""
"0000109018" "00108598" "1" "00485" "00485" "2009-10-30 19:52:09" "" "" "SEQ" "DNA" "" ""
"0000109019" "00108599" "1" "00485" "00485" "2009-10-30 19:52:09" "" "" "SEQ" "DNA" "" ""
"0000109020" "00108600" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:35:38" "SEQ" "DNA" "" ""
"0000109021" "00108601" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:37:47" "SEQ" "DNA" "" ""
"0000109022" "00108602" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:41:00" "SEQ" "DNA" "" ""
"0000109024" "00108580" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:36:24" "SEQ" "DNA" "" ""
"0000109025" "00108603" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:41:47" "SEQ" "DNA" "" ""
"0000109026" "00108573" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:28:27" "DHPLC;SEQ" "DNA" "" ""
"0000109027" "00108554" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:32:10" "SEQ" "DNA" "" ""
"0000109028" "00108546" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:35:46" "SEQ" "DNA" "" ""
"0000109029" "00108604" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:44:31" "SEQ" "DNA" "" ""
"0000109030" "00108548" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109031" "00108549" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109032" "00108605" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:45:30" "SEQ" "DNA" "" ""
"0000109033" "00108579" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109034" "00108583" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:28:27" "DHPLC;SEQ" "DNA" "" ""
"0000109035" "00108558" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109036" "00108590" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:33:16" "SEQ" "DNA" "" ""
"0000109037" "00108559" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:32:10" "SEQ" "DNA" "" ""
"0000109038" "00108606" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:48:25" "SEQ" "DNA" "" ""
"0000109039" "00108562" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:31:27" "SEQ" "DNA" "" ""
"0000109040" "00108544" "1" "01534" "01534" "2008-06-23 15:49:49" "00006" "2011-01-24 22:01:44" "SEQ" "DNA" "" ""
"0000109041" "00108560" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109042" "00108607" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:49:15" "SEQ" "DNA" "" ""
"0000109043" "00108592" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:49:57" "SEQ" "DNA" "" ""
"0000109044" "00108572" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:29:43" "SEQ" "DNA" "" ""
"0000109045" "00108570" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:34:23" "SEQ" "DNA" "" ""
"0000109046" "00108550" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:28:27" "DHPLC;SEQ" "DNA" "" ""
"0000109047" "00108561" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:30:37" "SEQ" "DNA" "" ""
"0000109048" "00108569" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:29:43" "SEQ" "DNA" "" ""
"0000109049" "00108571" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109050" "00108555" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109051" "00108545" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:34:23" "DHPLC;SEQ" "DNA" "" ""
"0000109052" "00108584" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:33:16" "SEQ" "DNA" "" ""
"0000109053" "00108568" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109054" "00108593" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:50:48" "SEQ" "DNA" "" ""
"0000109055" "00108582" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:36:24" "SEQ" "DNA" "" ""
"0000109056" "00108587" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:33:16" "SEQ" "DNA" "" ""
"0000109057" "00108567" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "DHPLC;SEQ" "DNA" "" ""
"0000109058" "00108563" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:31:27" "SEQ" "DNA" "" ""
"0000109059" "00108556" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109060" "00108589" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:33:16" "SEQ" "DNA" "" ""
"0000109061" "00108578" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:28:27" "DHPLC;SEQ" "DNA" "" ""
"0000109062" "00108564" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:31:27" "SEQ" "DNA" "" ""
"0000109063" "00108566" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:28:27" "DHPLC;SEQ" "DNA" "" ""
"0000109064" "00108557" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109065" "00108574" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "DHPLC;SEQ" "DNA" "" ""
"0000109066" "00108547" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109067" "00108588" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:33:16" "SEQ" "DNA" "" ""
"0000109068" "00108608" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:51:34" "SEQ" "DNA" "" ""
"0000109069" "00108565" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:31:27" "SEQ" "DNA" "" ""
"0000109070" "00108551" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109071" "00108577" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:28:27" "DHPLC;SEQ" "DNA" "" ""
"0000109072" "00108575" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:28:27" "DHPLC;SEQ" "DNA" "" ""
"0000109073" "00108576" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:28:27" "DHPLC;SEQ" "DNA" "" ""
"0000109074" "00108585" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:33:16" "SEQ" "DNA" "" ""
"0000109075" "00108610" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:52:14" "SEQ" "DNA" "" ""
"0000109076" "00108609" "1" "00006" "00006" "2009-10-30 19:59:04" "01534" "2011-02-18 14:53:17" "SEQ" "DNA" "" ""
"0000109077" "00108553" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:38:02" "SEQ" "DNA" "" ""
"0000109078" "00108552" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:34:23" "DHPLC;SEQ" "DNA" "" ""
"0000109079" "00108586" "1" "01534" "01534" "2008-04-18 14:06:31" "01534" "2012-06-01 15:28:27" "SEQ" "DNA" "" ""
"0000208122" "00207087" "1" "00753" "00753" "2011-04-14 12:59:05" "00753" "2011-05-27 15:34:44" "SEQ" "DNA" "" ""
"0000208123" "00207088" "1" "00753" "00753" "2011-04-14 12:51:07" "00753" "2011-05-27 15:32:25" "SEQ" "DNA" "" ""
"0000208124" "00207089" "1" "00753" "00753" "2011-04-14 13:04:06" "00753" "2011-05-27 15:37:33" "SEQ" "DNA" "" ""
"0000208125" "00207090" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2011-02-18 11:06:30" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208126" "00207091" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "SEQ" "DNA" "" ""
"0000208127" "00207092" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208128" "00207093" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208129" "00207094" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208130" "00207095" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208131" "00207096" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208132" "00207097" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208133" "00207098" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208134" "00207099" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208135" "00207100" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208136" "00207101" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208137" "00207102" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208138" "00207103" "1" "00753" "00753" "2011-01-21 17:00:19" "00753" "2011-02-01 16:02:22" "SEQ" "DNA" "" ""
"0000208139" "00207104" "1" "00753" "00753" "2011-01-21 17:03:49" "00753" "2011-02-01 16:06:18" "SEQ" "DNA" "" ""
"0000208140" "00207105" "1" "00753" "00753" "2011-01-25 15:23:46" "00753" "2011-02-01 16:10:07" "SEQ" "DNA" "" ""
"0000208141" "00207106" "1" "00753" "00753" "2011-01-25 15:29:56" "00753" "2011-02-01 16:13:06" "SEQ" "DNA" "" ""
"0000208142" "00207107" "1" "00753" "00753" "2011-01-25 15:42:30" "00753" "2011-02-01 16:16:31" "SEQ" "DNA" "" ""
"0000208143" "00207108" "1" "00753" "00753" "2011-01-25 16:06:57" "00753" "2011-02-01 16:19:30" "SEQ" "DNA" "" ""
"0000208144" "00207109" "1" "00753" "00753" "2011-02-01 16:35:00" "" "" "SEQ" "DNA" "" ""
"0000208145" "00207110" "1" "00753" "00753" "2011-01-21 16:54:11" "00753" "2011-02-01 15:54:10" "SEQ" "DNA" "" ""
"0000208146" "00207111" "1" "00753" "00753" "2011-01-25 16:11:09" "00753" "2011-02-01 16:23:30" "SEQ" "DNA" "" ""
"0000208147" "00207112" "1" "00753" "00753" "2011-01-25 16:14:01" "00753" "2011-02-01 16:28:50" "SEQ" "DNA" "" ""
"0000208148" "00207113" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2011-02-18 11:28:48" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208149" "00207114" "1" "00753" "00753" "2011-02-18 11:35:56" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208150" "00207115" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208151" "00207116" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208152" "00207117" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208153" "00207118" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208154" "00207119" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208155" "00207120" "1" "00753" "00753" "2010-11-05 16:25:08" "" "" "SEQ" "DNA" "" ""
"0000208156" "00207121" "1" "00753" "00753" "2010-11-05 16:10:05" "00753" "2010-11-05 16:27:07" "SEQ" "DNA" "" ""
"0000208157" "00207122" "1" "00753" "00753" "2010-11-05 16:16:01" "" "" "SEQ" "DNA" "" ""
"0000208158" "00207123" "1" "00753" "00753" "2010-11-05 15:55:30" "00753" "2010-11-05 16:26:30" "SEQ" "DNA" "" ""
"0000208159" "00207124" "1" "00753" "00753" "2011-03-16 12:18:40" "00753" "2011-03-18 10:34:11" "SEQ" "DNA" "" ""
"0000208160" "00207125" "1" "00753" "00753" "2011-03-16 12:36:59" "00753" "2011-03-18 10:52:46" "SEQ" "DNA" "" ""
"0000208161" "00207126" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2011-02-18 11:39:42" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208162" "00207127" "1" "00753" "00753" "2011-02-18 11:48:11" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208164" "00207129" "1" "00753" "00753" "2011-10-13 12:25:50" "00753" "2011-11-09 09:39:38" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208165" "00207130" "1" "00753" "00753" "2011-02-18 11:55:38" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208166" "00207131" "1" "00753" "00753" "2011-03-16 13:27:15" "00753" "2011-03-18 12:04:04" "SEQ" "DNA" "" ""
"0000208167" "00207132" "1" "00753" "00753" "2011-03-16 13:22:25" "00753" "2011-03-18 12:09:26" "SEQ" "DNA" "" ""
"0000208168" "00207133" "1" "00753" "00753" "2011-03-16 11:45:54" "00753" "2011-03-18 11:04:08" "SEQ" "DNA" "" ""
"0000208169" "00207134" "1" "00753" "00753" "2011-03-16 11:56:00" "00753" "2011-03-18 11:20:44" "SEQ" "DNA" "" ""
"0000208170" "00207135" "1" "00753" "00753" "2011-03-16 12:01:01" "00753" "2011-03-18 11:20:02" "SEQ" "DNA" "" ""
"0000208171" "00207136" "1" "00753" "00753" "2011-03-16 12:06:59" "00753" "2011-03-18 11:22:18" "SEQ" "DNA" "" ""
"0000208172" "00207137" "1" "00753" "00753" "2011-03-18 11:26:53" "" "" "SEQ" "DNA" "" ""
"0000208173" "00207138" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208174" "00207139" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208175" "00207140" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208176" "00207141" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208177" "00207142" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208178" "00207143" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208179" "00207144" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208180" "00207145" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208181" "00207146" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208182" "00207147" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208183" "00207148" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208184" "00207149" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2012-01-24 16:12:42" "PCR;SEQ" "DNA" "" ""
"0000208185" "00207150" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208186" "00207151" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208187" "00207152" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208188" "00207153" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208189" "00207154" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208190" "00207155" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208191" "00207156" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208192" "00207157" "1" "00753" "00753" "2011-06-09 14:27:46" "00753" "2011-11-16 10:12:49" "PCR;SEQ" "DNA" "" ""
"0000208193" "00207158" "1" "00753" "00753" "2011-06-09 14:43:38" "00753" "2011-11-16 10:29:45" "PCR;SEQ" "DNA" "" ""
"0000208194" "00207159" "1" "00753" "00753" "2011-06-09 14:58:26" "00753" "2011-11-16 10:41:14" "PCR;SEQ" "DNA" "" ""
"0000208195" "00207160" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208196" "00207161" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208197" "00207162" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208198" "00207163" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208199" "00207164" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208200" "00207165" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208201" "00207166" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208202" "00207167" "1" "00753" "00753" "2011-01-21 15:28:50" "00753" "2011-02-01 16:56:05" "SEQ" "DNA" "" ""
"0000208203" "00207168" "1" "00753" "00753" "2011-01-21 15:35:00" "00753" "2011-02-01 16:59:04" "SEQ" "DNA" "" ""
"0000208204" "00207169" "1" "00753" "00753" "2011-01-21 15:08:12" "00753" "2011-02-01 16:46:47" "SEQ" "DNA" "" ""
"0000208205" "00207170" "1" "00753" "00753" "2011-01-21 15:46:45" "00753" "2011-02-01 17:01:29" "SEQ" "DNA" "" ""
"0000208206" "00207171" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208207" "00207172" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208208" "00207173" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208209" "00207174" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208210" "00207175" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208211" "00207176" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208212" "00207177" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208213" "00207178" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208214" "00207179" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208215" "00207180" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208216" "00207181" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208217" "00207182" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208218" "00207183" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208219" "00207184" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208220" "00207185" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208221" "00207186" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2011-02-18 11:22:14" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208222" "00207187" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2011-02-18 11:18:34" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208223" "00207188" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208224" "00207189" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208225" "00207190" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208226" "00207191" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2012-03-28 11:08:28" "PCR;SEQ" "DNA" "" ""
"0000208227" "00207192" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2011-02-18 11:14:28" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208228" "00207193" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2011-02-18 11:58:53" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208229" "00207194" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2011-02-18 12:08:28" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208230" "00207195" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208231" "00207196" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208232" "00207197" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208233" "00207198" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208234" "00207199" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208235" "00207200" "1" "00753" "00753" "2011-02-03 12:41:18" "00753" "2011-02-04 12:38:50" "PCR;SEQ" "DNA" "" ""
"0000208236" "00207201" "1" "00753" "00753" "2011-02-03 10:56:07" "00753" "2011-02-04 12:43:54" "PCR;SEQ" "DNA" "" ""
"0000208237" "00207202" "1" "00753" "00753" "2011-02-03 11:00:37" "00753" "2011-02-04 12:44:36" "PCR;SEQ" "DNA" "" ""
"0000208238" "00207203" "1" "00753" "00753" "2011-02-03 11:04:31" "00753" "2011-02-04 12:45:19" "PCR;SEQ" "DNA" "" ""
"0000208239" "00207204" "1" "00753" "00753" "2011-02-03 10:40:28" "00753" "2011-02-04 11:29:08" "PCR;SEQ" "DNA" "" ""
"0000208240" "00207205" "1" "00753" "00753" "2011-02-03 11:08:50" "00753" "2011-02-04 11:16:24" "PCR;SEQ" "DNA" "" ""
"0000208241" "00207206" "1" "00753" "00753" "2011-02-03 11:13:19" "00753" "2011-02-04 12:46:20" "PCR;SEQ" "DNA" "" ""
"0000208242" "00207207" "1" "00753" "00753" "2011-02-03 11:33:14" "00753" "2011-02-04 11:38:27" "PCR;SEQ" "DNA" "" ""
"0000208243" "00207208" "1" "00753" "00753" "2011-02-03 11:43:19" "00753" "2011-02-04 12:41:10" "PCR;SEQ" "DNA" "" ""
"0000208244" "00207209" "1" "00753" "00753" "2011-02-03 11:55:38" "00753" "2011-02-04 12:41:40" "PCR;SEQ" "DNA" "" ""
"0000208245" "00207210" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2011-02-04 11:34:45" "PCR;SEQ" "DNA" "" ""
"0000208246" "00207211" "1" "00753" "00753" "2011-02-03 10:45:36" "00753" "2011-02-04 12:42:44" "PCR;SEQ" "DNA" "" ""
"0000208247" "00207212" "1" "00753" "00753" "2011-02-03 11:59:45" "00753" "2011-02-04 12:47:14" "PCR;SEQ" "DNA" "" ""
"0000208248" "00207213" "1" "00753" "00753" "2011-02-03 12:07:01" "00753" "2011-02-04 11:48:13" "PCR;SEQ" "DNA" "" ""
"0000208249" "00207214" "1" "00753" "00753" "2011-02-03 12:09:58" "00753" "2011-02-04 12:21:08" "PCR;SEQ" "DNA" "" ""
"0000208250" "00207215" "1" "00753" "00753" "2011-02-03 12:27:39" "00753" "2011-02-04 12:31:26" "PCR;SEQ" "DNA" "" ""
"0000208251" "00207216" "1" "00753" "00753" "2011-02-03 12:32:13" "00753" "2011-02-04 12:34:01" "PCR;SEQ" "DNA" "" ""
"0000208252" "00207217" "1" "00753" "00753" "2011-02-03 12:35:37" "00753" "2011-02-04 12:35:52" "PCR;SEQ" "DNA" "" ""
"0000208253" "00207218" "1" "00753" "00753" "2011-02-03 12:18:19" "00753" "2011-02-04 12:25:49" "PCR;SEQ" "DNA" "" ""
"0000208254" "00207219" "1" "00753" "00753" "2011-02-03 12:14:46" "00753" "2011-02-04 12:23:57" "PCR;SEQ" "DNA" "" ""
"0000208255" "00207220" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208256" "00207221" "1" "00753" "00753" "2008-06-26 18:00:08" "00753" "2008-06-26 18:00:08" "PCR;SEQ" "DNA" "" ""
"0000208257" "00207222" "1" "00753" "00753" "2010-11-05 17:04:46" "00753" "2012-04-18 10:15:54" "SEQ" "DNA" "" ""
"0000208258" "00207223" "1" "00753" "00753" "2010-11-05 17:11:04" "00753" "2012-04-18 10:17:01" "SEQ" "DNA" "" ""
"0000208259" "00207224" "1" "00753" "00753" "2010-10-22 11:27:47" "00753" "2012-04-19 11:06:38" "SEQ" "DNA" "" ""
"0000208260" "00207225" "1" "00753" "00753" "2010-10-22 11:44:24" "00753" "2012-04-19 11:07:27" "SEQ" "DNA" "" ""
"0000208261" "00207226" "1" "00753" "00753" "2010-10-22 11:38:51" "00753" "2012-04-19 11:05:14" "SEQ" "DNA" "" ""
"0000208262" "00207227" "1" "00753" "00753" "2010-10-22 11:53:35" "00753" "2012-04-19 11:09:23" "SEQ" "DNA" "" ""
"0000208263" "00207228" "1" "00753" "00753" "2010-10-22 11:49:41" "00753" "2012-04-19 11:08:22" "SEQ" "DNA" "" ""
"0000208264" "00207229" "1" "00753" "00753" "2010-10-22 12:26:39" "00753" "2012-04-19 11:13:40" "SEQ" "DNA" "" ""
"0000208265" "00207230" "1" "00753" "00753" "2010-10-22 12:21:58" "00753" "2012-04-19 11:12:58" "SEQ" "DNA" "" ""
"0000208266" "00207231" "1" "00753" "00753" "2010-10-22 12:45:02" "00753" "2012-04-19 11:18:32" "SEQ" "DNA" "" ""
"0000208267" "00207232" "1" "00753" "00753" "2010-10-22 12:41:45" "00753" "2012-04-19 11:17:48" "SEQ" "DNA" "" ""
"0000208268" "00207233" "1" "00753" "00753" "2010-10-22 12:48:44" "00753" "2012-04-19 11:19:09" "SEQ" "DNA" "" ""
"0000208269" "00207234" "1" "00753" "00753" "2010-10-22 12:38:38" "00753" "2012-04-19 11:16:46" "SEQ" "DNA" "" ""
"0000208270" "00207235" "1" "00753" "00753" "2010-10-22 12:30:57" "00753" "2012-04-19 11:14:53" "SEQ" "DNA" "" ""
"0000208271" "00207236" "1" "00753" "00753" "2010-10-22 12:34:17" "00753" "2012-04-19 11:15:37" "SEQ" "DNA" "" ""
"0000208272" "00207237" "1" "00753" "00753" "2010-10-22 12:13:54" "00753" "2012-04-19 11:11:20" "SEQ" "DNA" "" ""
"0000208273" "00207238" "1" "00753" "00753" "2010-10-22 12:19:00" "00753" "2012-04-19 11:11:55" "SEQ" "DNA" "" ""
"0000208274" "00207239" "1" "00753" "00753" "2010-10-22 12:06:31" "00753" "2012-04-19 11:10:44" "SEQ" "DNA" "" ""
"0000208275" "00207240" "1" "00753" "00753" "2010-10-22 13:06:21" "00753" "2012-04-19 10:55:43" "SEQ" "DNA" "" ""
"0000208276" "00207241" "1" "00753" "00753" "2010-10-22 13:15:59" "00753" "2012-04-19 10:56:43" "SEQ" "DNA" "" ""
"0000208277" "00207242" "1" "00753" "00753" "2010-10-22 13:19:03" "00753" "2012-04-19 10:57:28" "SEQ" "DNA" "" ""
"0000208278" "00207243" "1" "00753" "00753" "2010-10-22 13:01:30" "00753" "2012-04-19 10:53:37" "SEQ" "DNA" "" ""
"0000208279" "00207244" "1" "00753" "00753" "2010-11-05 17:41:50" "00753" "2012-04-18 10:20:05" "SEQ" "DNA" "" ""
"0000208280" "00207245" "1" "00753" "00753" "2010-11-05 17:21:53" "00753" "2012-04-18 10:18:11" "SEQ" "DNA" "" ""
"0000208281" "00207246" "1" "00753" "00753" "2010-11-05 17:32:45" "00753" "2012-04-18 10:19:10" "SEQ" "DNA" "" ""
"0000208282" "00207247" "1" "00753" "00753" "2011-02-18 12:43:36" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208283" "00207248" "1" "00753" "00753" "2011-02-18 12:52:01" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208284" "00207249" "1" "00753" "00753" "2011-02-18 12:57:06" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208285" "00207250" "1" "00753" "00753" "2011-02-01 13:16:21" "" "" "SEQ" "DNA" "" ""
"0000208286" "00207251" "1" "00753" "00753" "2011-02-01 13:19:29" "" "" "SEQ" "DNA" "" ""
"0000208287" "00207252" "1" "00753" "00753" "2011-02-01 13:05:19" "" "" "SEQ" "DNA" "" ""
"0000208288" "00207253" "1" "00753" "00753" "2011-02-01 13:10:09" "" "" "SEQ" "DNA" "" ""
"0000208289" "00207254" "1" "00753" "00753" "2011-01-12 14:45:51" "00753" "2011-02-01 12:54:35" "SEQ" "DNA" "" ""
"0000208290" "00207255" "1" "00753" "00753" "2011-02-01 13:22:02" "" "" "SEQ" "DNA" "" ""
"0000208291" "00207256" "1" "00753" "00753" "2011-01-11 16:37:06" "00753" "2011-02-01 11:56:00" "SEQ" "DNA" "" ""
"0000208292" "00207257" "1" "00753" "00753" "2011-01-12 13:12:03" "00753" "2011-02-01 12:42:04" "SEQ" "DNA" "" ""
"0000208293" "00207258" "1" "00753" "00753" "2011-01-12 13:03:00" "00753" "2011-02-01 12:39:22" "SEQ" "DNA" "" ""
"0000208294" "00207259" "1" "00753" "00753" "2011-01-11 15:56:57" "00753" "2011-02-01 11:34:47" "SEQ" "DNA" "" ""
"0000208295" "00207260" "1" "00753" "00753" "2011-01-11 17:06:13" "00753" "2011-02-01 12:11:27" "SEQ" "DNA" "" ""
"0000208296" "00207261" "1" "00753" "00753" "2011-01-11 16:51:56" "00753" "2011-02-01 12:03:21" "SEQ" "DNA" "" ""
"0000208297" "00207262" "1" "00753" "00753" "2011-01-12 12:58:45" "00753" "2011-02-01 12:33:37" "SEQ" "DNA" "" ""
"0000208298" "00207263" "1" "00753" "00753" "2011-01-12 13:16:19" "00753" "2011-02-01 12:46:30" "SEQ" "DNA" "" ""
"0000208299" "00207264" "1" "00753" "00753" "2011-01-11 17:16:16" "00753" "2011-02-01 12:16:20" "SEQ" "DNA" "" ""
"0000208300" "00207265" "1" "00753" "00753" "2011-01-11 17:20:52" "00753" "2011-02-01 12:20:35" "SEQ" "DNA" "" ""
"0000208301" "00207266" "1" "00753" "00753" "2011-01-11 16:56:22" "00753" "2011-02-01 12:06:12" "SEQ" "DNA" "" ""
"0000208302" "00207267" "1" "00753" "00753" "2011-02-18 13:04:26" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208303" "00207268" "1" "00753" "00753" "2011-02-18 15:59:23" "00753" "2011-02-25 12:43:19" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208304" "00207269" "1" "00753" "00753" "2011-02-23 17:02:47" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208305" "00207270" "1" "00753" "00753" "2011-02-25 13:11:51" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208306" "00207271" "1" "00753" "00753" "2011-02-23 17:05:52" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208307" "00207272" "1" "00753" "00753" "2011-02-23 17:09:02" "00753" "2011-02-25 13:00:25" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208308" "00207273" "1" "00753" "00753" "2011-02-23 17:18:44" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208309" "00207274" "1" "00753" "00753" "2011-02-23 17:21:31" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208310" "00207275" "1" "00753" "00753" "2011-02-24 09:10:08" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208311" "00207276" "1" "00753" "00753" "2011-02-24 09:17:42" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208312" "00207277" "1" "00753" "00753" "2011-02-24 09:21:33" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208313" "00207278" "1" "00753" "00753" "2011-02-24 09:26:21" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208314" "00207279" "1" "00753" "00753" "2011-02-24 09:28:52" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208315" "00207280" "1" "00753" "00753" "2011-02-24 09:32:29" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208316" "00207281" "1" "00753" "00753" "2011-02-24 09:35:35" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208317" "00207282" "1" "00753" "00753" "2011-02-24 09:37:55" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208318" "00207283" "1" "00753" "00753" "2011-02-25 14:48:35" "" "" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208319" "00207284" "1" "00753" "00753" "2011-10-10 16:10:14" "00753" "2011-11-04 11:46:56" "PCR;SEQ" "DNA" "" ""
"0000208320" "00207285" "1" "00753" "00753" "2011-10-10 16:20:01" "00753" "2011-11-04 12:04:59" "PCR;SEQ" "DNA" "" ""
"0000208321" "00207286" "1" "00753" "00753" "2011-10-10 16:30:46" "00753" "2011-11-04 12:17:50" "PCR;SEQ" "DNA" "" ""
"0000208322" "00207287" "1" "00753" "00753" "2011-10-10 16:43:27" "00753" "2011-11-04 12:37:50" "PCR;SEQ" "DNA" "" ""
"0000208323" "00207288" "1" "00753" "00753" "2011-10-10 16:39:23" "00753" "2011-11-04 12:57:54" "PCR;SEQ" "DNA" "" ""
"0000208324" "00207289" "1" "00753" "00753" "2011-10-13 13:11:01" "00753" "2011-11-09 10:09:03" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208325" "00207290" "1" "00753" "00753" "2011-10-13 14:52:07" "00753" "2012-04-19 11:21:55" "DHPLC;PCR;SEQ" "DNA" "" ""
"0000208326" "00207291" "1" "00753" "00753" "2012-01-10 17:19:22" "" "" "PCR;SEQ" "DNA" "" ""
"0000208327" "00207292" "1" "00753" "00753" "2011-04-14 13:29:49" "00753" "2011-05-27 15:04:08" "SEQ" "DNA" "" ""
"0000208328" "00207293" "1" "00753" "00753" "2012-01-11 14:57:49" "" "" "PCR;SEQ" "DNA" "" ""
"0000208329" "00207294" "1" "00753" "00753" "2012-01-10 17:32:57" "" "" "PCR;SEQ" "DNA" "" ""
"0000208330" "00207295" "1" "00753" "00753" "2011-09-12 11:25:27" "00753" "2011-11-09 11:21:35" "SEQ" "DNA" "" ""
"0000208331" "00207296" "1" "00753" "00753" "2011-09-12 11:56:00" "00753" "2011-11-09 11:18:47" "SEQ" "DNA" "" ""
"0000208332" "00207297" "1" "00753" "00753" "2011-09-12 12:04:09" "00753" "2011-11-09 11:26:49" "SEQ" "DNA" "" ""
"0000208333" "00207298" "1" "00753" "00753" "2011-09-12 11:06:44" "00753" "2011-11-09 11:22:30" "SEQ" "DNA" "" ""
"0000208334" "00207299" "1" "00753" "00753" "2012-01-10 17:36:47" "" "" "PCR;SEQ" "DNA" "" ""
"0000208335" "00207300" "1" "00753" "00753" "2012-05-10 16:46:02" "00753" "2012-06-01 16:48:38" "PCR;SEQ" "DNA" "" ""
"0000208336" "00207301" "1" "00753" "00753" "2012-07-20 11:05:57" "" "" "SEQ" "DNA" "" ""
"0000208337" "00207302" "1" "00753" "00753" "2012-07-19 16:12:18" "00753" "2012-07-20 10:44:46" "SEQ" "DNA" "" ""
"0000208338" "00207303" "1" "00753" "00753" "2012-07-19 16:21:31" "00753" "2012-07-20 10:58:41" "SEQ" "DNA" "" ""
"0000208842" "00207801" "1" "01164" "01164" "2018-11-30 14:45:19" "" "" "SEQ-NG" "DNA" "" ""
"0000209888" "00208843" "1" "01164" "01164" "2018-12-18 12:12:02" "" "" "SEQ-NG" "DNA" "" ""
"0000290728" "00289560" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305282" "00304153" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000306684" "00305555" "1" "01741" "01741" "2020-06-29 13:43:08" "" "" "SEQ" "DNA" "" ""
"0000326086" "00324879" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000375408" "00374214" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000437645" "00436162" "1" "01164" "01164" "2023-08-30 12:56:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000454693" "00453082" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 314
"{{screeningid}}" "{{geneid}}"
"0000034890" "ATP1A2"
"0000034891" "ATP1A2"
"0000034892" "ATP1A2"
"0000034893" "ATP1A2"
"0000034894" "ATP1A2"
"0000034895" "ATP1A2"
"0000034896" "ATP1A2"
"0000034897" "ATP1A2"
"0000034898" "ATP1A2"
"0000034899" "ATP1A2"
"0000034900" "ATP1A2"
"0000034901" "ATP1A2"
"0000034902" "ATP1A2"
"0000034903" "ATP1A2"
"0000034904" "ATP1A2"
"0000034905" "ATP1A2"
"0000034906" "ATP1A2"
"0000034907" "ATP1A2"
"0000034908" "ATP1A2"
"0000034909" "ATP1A2"
"0000034910" "ATP1A2"
"0000034911" "ATP1A2"
"0000034912" "ATP1A2"
"0000034913" "ATP1A2"
"0000034914" "ATP1A2"
"0000109010" "ATP1A2"
"0000109011" "ATP1A2"
"0000109012" "ATP1A2"
"0000109013" "ATP1A2"
"0000109014" "ATP1A2"
"0000109015" "ATP1A2"
"0000109016" "ATP1A2"
"0000109017" "ATP1A2"
"0000109018" "ATP1A2"
"0000109019" "ATP1A2"
"0000109020" "ATP1A2"
"0000109021" "ATP1A2"
"0000109022" "ATP1A2"
"0000109024" "ATP1A2"
"0000109025" "ATP1A2"
"0000109026" "ATP1A2"
"0000109027" "ATP1A2"
"0000109028" "ATP1A2"
"0000109029" "ATP1A2"
"0000109030" "ATP1A2"
"0000109031" "ATP1A2"
"0000109032" "ATP1A2"
"0000109033" "ATP1A2"
"0000109034" "ATP1A2"
"0000109035" "ATP1A2"
"0000109036" "ATP1A2"
"0000109037" "ATP1A2"
"0000109038" "ATP1A2"
"0000109039" "ATP1A2"
"0000109040" "ATP1A2"
"0000109041" "ATP1A2"
"0000109042" "ATP1A2"
"0000109043" "ATP1A2"
"0000109044" "ATP1A2"
"0000109045" "ATP1A2"
"0000109046" "ATP1A2"
"0000109047" "ATP1A2"
"0000109048" "ATP1A2"
"0000109049" "ATP1A2"
"0000109050" "ATP1A2"
"0000109051" "ATP1A2"
"0000109052" "ATP1A2"
"0000109053" "ATP1A2"
"0000109054" "ATP1A2"
"0000109055" "ATP1A2"
"0000109056" "ATP1A2"
"0000109057" "ATP1A2"
"0000109058" "ATP1A2"
"0000109059" "ATP1A2"
"0000109060" "ATP1A2"
"0000109061" "ATP1A2"
"0000109062" "ATP1A2"
"0000109063" "ATP1A2"
"0000109064" "ATP1A2"
"0000109065" "ATP1A2"
"0000109066" "ATP1A2"
"0000109067" "ATP1A2"
"0000109068" "ATP1A2"
"0000109069" "ATP1A2"
"0000109070" "ATP1A2"
"0000109071" "ATP1A2"
"0000109072" "ATP1A2"
"0000109073" "ATP1A2"
"0000109074" "ATP1A2"
"0000109075" "ATP1A2"
"0000109076" "ATP1A2"
"0000109077" "ATP1A2"
"0000109078" "ATP1A2"
"0000109079" "ATP1A2"
"0000208122" "ATP1A2"
"0000208123" "ATP1A2"
"0000208124" "ATP1A2"
"0000208125" "ATP1A2"
"0000208126" "ATP1A2"
"0000208127" "ATP1A2"
"0000208128" "ATP1A2"
"0000208129" "ATP1A2"
"0000208130" "ATP1A2"
"0000208131" "ATP1A2"
"0000208132" "ATP1A2"
"0000208133" "ATP1A2"
"0000208134" "ATP1A2"
"0000208135" "ATP1A2"
"0000208136" "ATP1A2"
"0000208137" "ATP1A2"
"0000208138" "ATP1A2"
"0000208139" "ATP1A2"
"0000208140" "ATP1A2"
"0000208141" "ATP1A2"
"0000208142" "ATP1A2"
"0000208143" "ATP1A2"
"0000208144" "ATP1A2"
"0000208145" "ATP1A2"
"0000208146" "ATP1A2"
"0000208147" "ATP1A2"
"0000208148" "ATP1A2"
"0000208149" "ATP1A2"
"0000208150" "ATP1A2"
"0000208151" "ATP1A2"
"0000208152" "ATP1A2"
"0000208153" "ATP1A2"
"0000208154" "ATP1A2"
"0000208155" "ATP1A2"
"0000208156" "ATP1A2"
"0000208157" "ATP1A2"
"0000208158" "ATP1A2"
"0000208159" "ATP1A2"
"0000208160" "ATP1A2"
"0000208161" "ATP1A2"
"0000208162" "ATP1A2"
"0000208164" "ATP1A2"
"0000208165" "ATP1A2"
"0000208166" "ATP1A2"
"0000208167" "ATP1A2"
"0000208168" "ATP1A2"
"0000208169" "ATP1A2"
"0000208170" "ATP1A2"
"0000208171" "ATP1A2"
"0000208172" "ATP1A2"
"0000208173" "ATP1A2"
"0000208174" "ATP1A2"
"0000208175" "ATP1A2"
"0000208176" "ATP1A2"
"0000208177" "ATP1A2"
"0000208178" "ATP1A2"
"0000208179" "ATP1A2"
"0000208180" "ATP1A2"
"0000208181" "ATP1A2"
"0000208182" "ATP1A2"
"0000208183" "ATP1A2"
"0000208184" "ATP1A2"
"0000208185" "ATP1A2"
"0000208186" "ATP1A2"
"0000208187" "ATP1A2"
"0000208188" "ATP1A2"
"0000208189" "ATP1A2"
"0000208190" "ATP1A2"
"0000208191" "ATP1A2"
"0000208192" "ATP1A2"
"0000208193" "ATP1A2"
"0000208194" "ATP1A2"
"0000208195" "ATP1A2"
"0000208196" "ATP1A2"
"0000208197" "ATP1A2"
"0000208198" "ATP1A2"
"0000208199" "ATP1A2"
"0000208200" "ATP1A2"
"0000208201" "ATP1A2"
"0000208202" "ATP1A2"
"0000208203" "ATP1A2"
"0000208204" "ATP1A2"
"0000208205" "ATP1A2"
"0000208206" "ATP1A2"
"0000208207" "ATP1A2"
"0000208208" "ATP1A2"
"0000208209" "ATP1A2"
"0000208210" "ATP1A2"
"0000208211" "ATP1A2"
"0000208212" "ATP1A2"
"0000208213" "ATP1A2"
"0000208214" "ATP1A2"
"0000208215" "ATP1A2"
"0000208216" "ATP1A2"
"0000208217" "ATP1A2"
"0000208218" "ATP1A2"
"0000208219" "ATP1A2"
"0000208220" "ATP1A2"
"0000208221" "ATP1A2"
"0000208222" "ATP1A2"
"0000208223" "ATP1A2"
"0000208224" "ATP1A2"
"0000208225" "ATP1A2"
"0000208226" "ATP1A2"
"0000208227" "ATP1A2"
"0000208228" "ATP1A2"
"0000208229" "ATP1A2"
"0000208230" "ATP1A2"
"0000208231" "ATP1A2"
"0000208232" "ATP1A2"
"0000208233" "ATP1A2"
"0000208234" "ATP1A2"
"0000208235" "ATP1A2"
"0000208236" "ATP1A2"
"0000208237" "ATP1A2"
"0000208238" "ATP1A2"
"0000208239" "ATP1A2"
"0000208240" "ATP1A2"
"0000208241" "ATP1A2"
"0000208242" "ATP1A2"
"0000208243" "ATP1A2"
"0000208244" "ATP1A2"
"0000208245" "ATP1A2"
"0000208246" "ATP1A2"
"0000208247" "ATP1A2"
"0000208248" "ATP1A2"
"0000208249" "ATP1A2"
"0000208250" "ATP1A2"
"0000208251" "ATP1A2"
"0000208252" "ATP1A2"
"0000208253" "ATP1A2"
"0000208254" "ATP1A2"
"0000208255" "ATP1A2"
"0000208256" "ATP1A2"
"0000208257" "ATP1A2"
"0000208258" "ATP1A2"
"0000208259" "ATP1A2"
"0000208260" "ATP1A2"
"0000208261" "ATP1A2"
"0000208262" "ATP1A2"
"0000208263" "ATP1A2"
"0000208264" "ATP1A2"
"0000208265" "ATP1A2"
"0000208266" "ATP1A2"
"0000208267" "ATP1A2"
"0000208268" "ATP1A2"
"0000208269" "ATP1A2"
"0000208270" "ATP1A2"
"0000208271" "ATP1A2"
"0000208272" "ATP1A2"
"0000208273" "ATP1A2"
"0000208274" "ATP1A2"
"0000208275" "ATP1A2"
"0000208276" "ATP1A2"
"0000208277" "ATP1A2"
"0000208278" "ATP1A2"
"0000208279" "ATP1A2"
"0000208280" "ATP1A2"
"0000208281" "ATP1A2"
"0000208282" "ATP1A2"
"0000208283" "ATP1A2"
"0000208284" "ATP1A2"
"0000208285" "ATP1A2"
"0000208286" "ATP1A2"
"0000208287" "ATP1A2"
"0000208288" "ATP1A2"
"0000208289" "ATP1A2"
"0000208290" "ATP1A2"
"0000208291" "ATP1A2"
"0000208292" "ATP1A2"
"0000208293" "ATP1A2"
"0000208294" "ATP1A2"
"0000208295" "ATP1A2"
"0000208296" "ATP1A2"
"0000208297" "ATP1A2"
"0000208298" "ATP1A2"
"0000208299" "ATP1A2"
"0000208300" "ATP1A2"
"0000208301" "ATP1A2"
"0000208302" "ATP1A2"
"0000208303" "ATP1A2"
"0000208304" "ATP1A2"
"0000208305" "ATP1A2"
"0000208306" "ATP1A2"
"0000208307" "ATP1A2"
"0000208308" "ATP1A2"
"0000208309" "ATP1A2"
"0000208310" "ATP1A2"
"0000208311" "ATP1A2"
"0000208312" "ATP1A2"
"0000208313" "ATP1A2"
"0000208314" "ATP1A2"
"0000208315" "ATP1A2"
"0000208316" "ATP1A2"
"0000208317" "ATP1A2"
"0000208318" "ATP1A2"
"0000208319" "ATP1A2"
"0000208320" "ATP1A2"
"0000208321" "ATP1A2"
"0000208322" "ATP1A2"
"0000208323" "ATP1A2"
"0000208324" "ATP1A2"
"0000208325" "ATP1A2"
"0000208326" "ATP1A2"
"0000208327" "ATP1A2"
"0000208328" "ATP1A2"
"0000208329" "ATP1A2"
"0000208330" "ATP1A2"
"0000208331" "ATP1A2"
"0000208332" "ATP1A2"
"0000208333" "ATP1A2"
"0000208334" "ATP1A2"
"0000208335" "ATP1A2"
"0000208336" "ATP1A2"
"0000208337" "ATP1A2"
"0000208338" "ATP1A2"
"0000306684" "ATP1A2"
"0000326086" "EIF2C1"
"0000375408" "ATP1A2"
"0000437645" "ATP1A2"
## 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 = 478
"{{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}}"
"0000062009" "1" "10" "1" "160113371" "160113371" "subst" "0" "01164" "ATP1A2_000090" "g.160113371T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160143581T>A" "" "benign" ""
"0000062010" "1" "10" "1" "160098688" "160098688" "subst" "0.00649014" "01164" "ATP1A2_000046" "g.160098688G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160128898G>A" "" "benign" ""
"0000062011" "1" "90" "1" "160090670" "160090670" "subst" "1.77794E-5" "01164" "ATP1A2_000084" "g.160090670T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160120880T>C" "" "pathogenic" ""
"0000062012" "1" "50" "1" "160099904" "160099904" "subst" "0.00042285" "01164" "ATP1A2_000060" "g.160099904G>A" "" "" "" "" "" "Germline" "" "rs142348542" "0" "" "" "g.160130114G>A" "" "VUS" ""
"0000062013" "1" "90" "1" "160100073" "160100073" "subst" "4.06441E-6" "01164" "ATP1A2_000069" "g.160100073G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160130283G>A" "" "pathogenic" ""
"0000062014" "1" "50" "1" "160100326" "160100326" "subst" "0" "01164" "ATP1A2_000095" "g.160100326T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160130536T>C" "" "VUS" ""
"0000062015" "1" "90" "1" "160105251" "160105251" "subst" "0" "01164" "ATP1A2_000085" "g.160105251G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160135461G>A" "" "pathogenic" ""
"0000062016" "1" "90" "1" "160105632" "160105632" "subst" "0" "01164" "ATP1A2_000096" "g.160105632G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160135842G>T" "" "pathogenic" ""
"0000062017" "1" "50" "1" "160106377" "160106377" "subst" "0" "01164" "ATP1A2_000097" "g.160106377G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160136587G>C" "" "VUS" ""
"0000062018" "1" "90" "1" "160106704" "160106704" "subst" "0" "01164" "ATP1A2_000063" "g.160106704G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160136914G>A" "" "pathogenic" ""
"0000062019" "1" "50" "1" "160106763" "160106763" "subst" "0" "01164" "ATP1A2_000098" "g.160106763T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160136973T>A" "" "VUS" ""
"0000062020" "1" "10" "1" "160106857" "160106857" "subst" "0.0139655" "01164" "ATP1A2_000054" "g.160106857G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160137067G>A" "" "benign" ""
"0000062021" "1" "10" "1" "160109410" "160109410" "dup" "0" "01164" "ATP1A2_000058" "g.160109410dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160139620dup" "" "benign" ""
"0000062022" "1" "90" "1" "160109525" "160109525" "subst" "0" "01164" "ATP1A2_000029" "g.160109525C>T" "" "" "" "" "Biobase: path." "Germline" "" "" "0" "" "" "g.160139735C>T" "" "pathogenic" ""
"0000062023" "1" "50" "1" "160109668" "160109668" "subst" "0.00465608" "01164" "ATP1A2_000099" "g.160109668C>T" "" "" "" "" "" "Germline" "" "rs111510835" "0" "" "" "g.160139878C>T" "" "VUS" ""
"0000062024" "1" "90" "1" "160109738" "160109738" "subst" "0" "01164" "ATP1A2_000100" "g.160109738G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160139948G>A" "" "pathogenic" ""
"0000062025" "1" "50" "1" "160109744" "160109744" "subst" "0" "01164" "ATP1A2_000101" "g.160109744C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160139954C>G" "" "VUS" ""
"0000062026" "1" "10" "1" "160109788" "160109788" "subst" "0.130973" "01164" "ATP1A2_000057" "g.160109788C>T" "" "" "" "" "" "Germline" "" "rs41288127" "0" "" "" "g.160139998C>T" "" "benign" ""
"0000062027" "1" "10" "1" "160109835" "160109835" "subst" "0" "01164" "ATP1A2_000089" "g.160109835G>A" "" "" "" "" "" "Germline" "" "rs558841" "0" "" "" "g.160140045G>A" "" "benign" ""
"0000062028" "1" "90" "1" "160093136" "160093136" "subst" "1.62427E-5" "01164" "ATP1A2_000102" "g.160093136T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160123346T>C" "" "pathogenic" ""
"0000062029" "1" "50" "1" "160093228" "160093228" "subst" "0.0016232" "01164" "ATP1A2_000103" "g.160093228G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160123438G>A" "" "VUS" ""
"0000062030" "1" "10" "1" "160093692" "160093692" "subst" "0.0140403" "01164" "ATP1A2_000091" "g.160093692G>T" "" "" "" "" "" "Germline" "" "rs41265765" "0" "" "" "g.160123902G>T" "" "benign" ""
"0000062031" "1" "90" "1" "160093815" "160093823" "dup" "0" "01164" "ATP1A2_000092" "g.160093815_160093823dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160124025_160124033dup" "" "pathogenic" ""
"0000062032" "1" "90" "1" "160094954" "160094954" "subst" "0" "01164" "ATP1A2_000093" "g.160094954C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160125164C>T" "" "pathogenic" ""
"0000062033" "1" "50" "1" "160097441" "160097441" "subst" "0" "01164" "ATP1A2_000094" "g.160097441C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.160127651C>T" "" "VUS" ""
"0000175074" "0" "10" "1" "160090670" "160090670" "subst" "1.77794E-5" "00485" "ATP1A2_000084" "g.160090670T>C" "" "" "" "" "5\'UTR" "Germline" "" "" "0" "" "" "g.160120880T>C" "" "benign" ""
"0000175075" "0" "10" "1" "160090674" "160090674" "subst" "0.999915" "00006" "ATP1A2_000079" "g.160090674T>C" "" "" "" "" "5\'UTR" "Germline" "" "rs2854246" "0" "" "" "g.160120884T>C" "" "benign" ""
"0000175076" "0" "10" "1" "160090685" "160090688" "del" "0" "00485" "ATP1A2_000082" "g.160090685_160090688del" "" "" "" "13-11_13-14delCCTT" "5\'UTR" "Germline" "" "" "0" "" "" "g.160120895_160120898del" "" "benign" ""
"0000175077" "0" "10" "1" "160093222" "160093222" "subst" "0.98815" "00006" "ATP1A2_000078" "g.160093222C>T" "" "" "" "" "" "Germline" "" "rs2820581" "0" "" "" "g.160123432C>T" "" "benign" ""
"0000175078" "0" "10" "1" "160093911" "160093911" "subst" "0" "00006" "ATP1A2_000038" "g.160093911T>C" "" "" "" "" "" "Germline" "" "rs2820582" "0" "" "" "g.160124121T>C" "" "benign" ""
"0000175079" "0" "10" "1" "160093927" "160093927" "subst" "0" "00006" "ATP1A2_000039" "g.160093927T>A" "" "" "" "" "" "Germline" "" "rs2854248" "0" "" "" "g.160124137T>A" "" "benign" ""
"0000175080" "0" "10" "1" "160093942" "160093942" "subst" "0" "00006" "ATP1A2_000042" "g.160093942G>A" "" "" "" "" "" "Germline" "" "rs17846707" "0" "" "" "g.160124152G>A" "" "benign" ""
"0000175081" "0" "10" "1" "160097315" "160097315" "subst" "0.0932897" "00006" "ATP1A2_000043" "g.160097315C>A" "" "" "" "" "" "Germline" "" "rs2295623" "0" "" "" "g.160127525C>A" "" "benign" ""
"0000175082" "0" "10" "1" "160097666" "160097666" "subst" "0" "00006" "ATP1A2_000081" "g.160097666G>A" "" "" "" "" "" "Germline" "" "rs6695366" "0" "" "" "g.160127876G>A" "" "benign" ""
"0000175083" "0" "10" "1" "160098543" "160098543" "subst" "0.19024" "00006" "ATP1A2_000044" "g.160098543G>A" "" "" "" "Ser373Ser" "" "Germline" "" "rs1063125" "0" "" "" "g.160128753G>A" "" "benign" ""
"0000175084" "0" "10" "1" "160098928" "160098928" "dup" "0" "00006" "ATP1A2_000080" "g.160098928dup" "" "" "" "" "" "Germline" "" "rs5778151" "0" "" "" "g.160129138dup" "" "benign" ""
"0000175085" "0" "10" "1" "160100201" "160100201" "subst" "0.0326412" "00006" "ATP1A2_000048" "g.160100201C>G" "" "" "" "" "" "Germline" "" "rs17846713" "0" "" "" "g.160130411C>G" "" "benign" ""
"0000175086" "0" "10" "1" "160100264" "160100264" "subst" "0.0287585" "00006" "ATP1A2_000045" "g.160100264C>T" "" "" "" "Phe568Phe" "" "Germline" "" "rs17846714" "0" "" "" "g.160130474C>T" "" "benign" ""
"0000175087" "0" "10" "1" "160105367" "160105367" "subst" "0.111779" "00006" "ATP1A2_000051" "g.160105367C>T" "" "" "" "Ala753Ala" "" "Germline" "" "rs17846715" "0" "" "" "g.160135577C>T" "" "benign" ""
"0000175088" "0" "10" "1" "160106531" "160106531" "subst" "0.0689385" "00006" "ATP1A2_000053" "g.160106531G>A" "" "" "" "" "" "Germline" "" "rs12083034" "0" "" "" "g.160136741G>A" "" "benign" ""
"0000175089" "0" "10" "1" "160109636" "160109636" "subst" "0.13136" "00006" "ATP1A2_000055" "g.160109636C>G" "" "" "" "" "" "Germline" "" "rs17846717" "0" "" "" "g.160139846C>G" "" "benign" ""
"0000175090" "0" "10" "1" "160109636" "160109636" "subst" "0.13136" "00006" "ATP1A2_000056" "g.160109636C>G" "" "" "" "" "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" "" "rs17846718" "0" "" "" "g.160139866G>C" "" "benign" ""
"0000175091" "0" "33" "1" "160090708" "160090708" "subst" "0.00168136" "01534" "ATP1A2_000066" "g.160090708T>A" "" "" "" "" "Protein location: N-terminus" "Germline" "" "" "0" "" "" "g.160120918T>A" "" "likely benign" ""
"0000175092" "0" "55" "1" "160093018" "160093018" "subst" "6.91591E-5" "01534" "ATP1A2_000001" "g.160093018C>T" "" "" "" "" "Protein location: N-terminus" "Germline" "" "" "0" "" "" "g.160123228C>T" "" "VUS" ""
"0000175093" "0" "55" "1" "160093835" "160093835" "subst" "0" "00485" "ATP1A2_000086" "g.160093835A>G" "" "" "" "" "Polyphen probably pathogenic; Protein/Location: M2-M3" "Germline" "" "" "0" "" "" "g.160124045A>G" "" "VUS" ""
"0000175094" "0" "55" "1" "160093836" "160093836" "subst" "0" "00485" "ATP1A2_000087" "g.160093836T>C" "" "" "" "" "Polyphen probably pathogenic; Protein/Location: M2-M3" "Germline" "" "" "0" "" "" "g.160124046T>C" "" "VUS" ""
"0000175095" "0" "55" "1" "160105631" "160105631" "subst" "0" "01534" "ATP1A2_000035" "g.160105631C>T" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160135841C>T" "" "VUS" ""
"0000175096" "0" "70" "1" "160093764" "160093764" "subst" "0" "01534" "ATP1A2_000033" "g.160093764T>C" "" "" "" "" "Protein location: M2" "Germline" "" "" "0" "" "" "g.160123974T>C" "" "likely pathogenic" ""
"0000175098" "0" "70" "1" "160098572" "160098572" "subst" "0" "01534" "ATP1A2_000008" "g.160098572G>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160128782G>A" "" "likely pathogenic" ""
"0000175099" "0" "70" "1" "160100074" "160100074" "subst" "0" "01534" "ATP1A2_000074" "g.160100074G>A" "" "" "" "" "Protein location: M4-M5\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.160130284G>A" "" "likely pathogenic" ""
"0000175100" "0" "70" "1" "160105068" "160105068" "subst" "0" "01534" "ATP1A2_000016" "g.160105068G>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160135278G>A" "" "likely pathogenic" ""
"0000175101" "0" "70" "1" "160105632" "160105632" "subst" "4.06138E-6" "01534" "ATP1A2_000019" "g.160105632G>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160135842G>A" "" "likely pathogenic" ""
"0000175102" "0" "70" "1" "160106083" "160106083" "subst" "0" "01534" "ATP1A2_000022" "g.160106083T>G" "" "" "" "" "Protein location: M6-M7" "Germline" "" "" "0" "" "" "g.160136293T>G" "" "likely pathogenic" ""
"0000175103" "0" "70" "1" "160106098" "160106098" "subst" "0" "01534" "ATP1A2_000023" "g.160106098G>A" "" "" "" "" "Protein location: M6-M9" "Germline" "" "" "0" "" "" "g.160136308G>A" "" "likely pathogenic" ""
"0000175104" "0" "70" "1" "160106500" "160106500" "subst" "0" "01534" "ATP1A2_000025" "g.160106500G>A" "" "" "" "" "Protein location: M7-M8" "Germline" "" "" "0" "" "" "g.160136710G>A" "" "likely pathogenic" ""
"0000175105" "0" "70" "1" "160106785" "160106801" "delins" "0" "01534" "ATP1A2_000026" "g.160106785_160106801delinsTT" "" "" "" "" "Protein location: M8-M9" "Germline" "" "" "0" "" "" "g.160136995_160137011delinsTT" "" "likely pathogenic" ""
"0000175106" "0" "70" "1" "160111110" "160111110" "subst" "0" "01534" "ATP1A2_000031" "g.160111110T>C" "" "" "" "" "Protein location: C-terminus" "Germline" "" "" "0" "" "" "g.160141320T>C" "" "likely pathogenic" ""
"0000175107" "0" "77" "1" "160097381" "160097381" "subst" "0" "01534" "ATP1A2_000002" "g.160097381C>T" "" "" "" "" "Protein location: M2-M3" "Germline" "" "" "0" "" "" "g.160127591C>T" "" "likely pathogenic" ""
"0000175108" "0" "77" "1" "160100072" "160100072" "subst" "0" "01534" "ATP1A2_000010" "g.160100072C>T" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160130282C>T" "" "likely pathogenic" ""
"0000175109" "0" "77" "1" "160100376" "160100376" "subst" "0" "01534" "ATP1A2_000012" "g.160100376G>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160130586G>A" "" "likely pathogenic" ""
"0000175110" "0" "77" "1" "160105260" "160105260" "subst" "0" "01534" "ATP1A2_000017" "g.160105260G>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160135470G>A" "" "likely pathogenic" ""
"0000175111" "0" "77" "1" "160105731" "160105731" "subst" "0" "01534" "ATP1A2_000021" "g.160105731C>G" "" "" "" "" "Protein location: M5-M6" "Germline" "" "" "0" "" "" "g.160135941C>G" "" "likely pathogenic" ""
"0000175112" "0" "77" "1" "160106791" "160106791" "subst" "0" "01534" "ATP1A2_000027" "g.160106791G>C" "" "" "" "" "Protein location: M8-M9" "Germline" "" "" "0" "" "" "g.160137001G>C" "" "likely pathogenic" ""
"0000175113" "0" "77" "1" "160109486" "160109487" "del" "0" "01534" "ATP1A2_000028" "g.160109486_160109487del" "" "" "" "" "Protein location: M9" "Germline" "" "" "0" "" "" "g.160139696_160139697del" "" "likely pathogenic" ""
"0000175114" "0" "77" "1" "160109525" "160109525" "subst" "0" "01534" "ATP1A2_000029" "g.160109525C>T" "" "" "" "" "Protein location: M9-M10" "Germline" "" "" "0" "" "" "g.160139735C>T" "" "likely pathogenic" ""
"0000175115" "0" "79" "1" "160098551" "160098551" "subst" "0" "01534" "ATP1A2_000006" "g.160098551C>T" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000175116" "0" "90" "1" "160094195" "160094195" "subst" "0" "01534" "ATP1A2_000034" "g.160094195G>A" "" "" "" "" "Protein location: M2-M3" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "pathogenic" ""
"0000175117" "0" "97" "1" "160097494" "160097494" "subst" "0" "01534" "ATP1A2_000004" "g.160097494G>A" "" "" "" "" "Protein location: M3" "Germline" "" "" "0" "" "" "g.160127704G>A" "" "pathogenic" ""
"0000175118" "0" "97" "1" "160106494" "160106494" "subst" "0" "01534" "ATP1A2_000041" "g.160106494G>C" "" "" "" "" "Protein location: M7-M8" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "pathogenic" ""
"0000175119" "0" "97" "1" "160109735" "160109735" "subst" "0" "01534" "ATP1A2_000030" "g.160109735G>C" "" "" "" "" "Protein location: M10" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "pathogenic" ""
"0000175120" "0" "99" "1" "160093184" "160093184" "subst" "0" "01534" "ATP1A2_000059" "g.160093184A>C" "" "" "" "" "Protein location: M1-M2" "Germline" "" "" "0" "" "" "g.160123394A>C" "" "pathogenic" ""
"0000175121" "0" "99" "1" "160097451" "160097451" "subst" "0" "01534" "ATP1A2_000073" "g.160097451T>C" "" "" "" "" "Protein location: M2-M3" "Germline" "" "" "0" "" "" "g.160127661T>C" "" "pathogenic" ""
"0000175122" "0" "99" "1" "160098457" "160098457" "subst" "0" "01534" "ATP1A2_000005" "g.160098457A>G" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160128667A>G" "" "pathogenic" ""
"0000175123" "0" "99" "1" "160098509" "160098509" "subst" "0" "01534" "ATP1A2_000032" "g.160098509T>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160128719T>A" "" "pathogenic" ""
"0000175124" "0" "99" "1" "160098551" "160098551" "subst" "0" "01534" "ATP1A2_000006" "g.160098551C>T" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "pathogenic" ""
"0000175125" "0" "99" "1" "160098557" "160098557" "subst" "0" "01534" "ATP1A2_000007" "g.160098557C>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160128767C>A" "" "pathogenic" ""
"0000175126" "0" "99" "1" "160098797" "160098797" "subst" "1.26883E-5" "01534" "ATP1A2_000009" "g.160098797C>T" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160129007C>T" "" "pathogenic" ""
"0000175127" "0" "99" "1" "160099904" "160099904" "subst" "0.00042285" "01534" "ATP1A2_000060" "g.160099904G>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160130114G>A" "" "pathogenic" ""
"0000175128" "0" "99" "1" "160100338" "160100338" "subst" "0" "01534" "ATP1A2_000075" "g.160100338C>T" "" "" "" "" "Protein location: M4-M5\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.160130548C>T" "" "pathogenic" ""
"0000175129" "0" "99" "1" "160100376" "160100376" "subst" "0" "01534" "ATP1A2_000012" "g.160100376G>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160130586G>A" "" "pathogenic" ""
"0000175130" "0" "99" "1" "160104289" "160104289" "subst" "0" "01534" "ATP1A2_000013" "g.160104289G>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160134499G>A" "" "pathogenic" ""
"0000175131" "0" "99" "1" "160104328" "160104328" "subst" "0" "01534" "ATP1A2_000014" "g.160104328G>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160134538G>A" "" "pathogenic" ""
"0000175132" "0" "99" "1" "160105036" "160105036" "subst" "0" "01534" "ATP1A2_000015" "g.160105036G>A" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "pathogenic" ""
"0000175133" "0" "99" "1" "0" "0" "" "0" "01534" "ATP1A2_000076" "g.?" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000175134" "0" "99" "1" "160105300" "160105300" "subst" "0" "01534" "ATP1A2_000018" "g.160105300T>C" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160135510T>C" "" "pathogenic" ""
"0000175135" "0" "99" "1" "160105635" "160105635" "subst" "0" "01534" "ATP1A2_000020" "g.160105635T>C" "" "" "" "" "Protein location: M4-M5" "Germline" "" "" "0" "" "" "g.160135845T>C" "" "pathogenic" ""
"0000175136" "0" "99" "1" "160105701" "160105701" "subst" "0" "01534" "ATP1A2_000061" "g.160105701C>T" "" "" "" "" "Protein location: M5" "Germline" "" "" "0" "" "" "g.160135911C>T" "" "pathogenic" ""
"0000175137" "0" "99" "1" "160105730" "160105730" "subst" "0" "01534" "ATP1A2_000036" "g.160105730C>T" "" "" "" "" "Protein location: M5-M6" "Germline" "" "" "0" "" "" "g.160135940C>T" "" "pathogenic" ""
"0000175138" "0" "99" "1" "160106097" "160106097" "subst" "4.0618E-6" "01534" "ATP1A2_000062" "g.160106097C>T" "" "" "" "" "Protein location: M6-M8" "Germline" "" "" "0" "" "" "g.160136307C>T" "" "pathogenic" ""
"0000175139" "0" "99" "1" "160106160" "160106160" "subst" "0" "01534" "ATP1A2_000072" "g.160106160G>A" "" "" "" "" "Protein location: M7" "Germline" "" "" "0" "" "" "g.160136370G>A" "" "pathogenic" ""
"0000175140" "0" "99" "1" "160106455" "160106455" "subst" "0" "01534" "ATP1A2_000024" "g.160106455T>C" "" "" "" "" "Protein location: M7-M8" "Germline" "" "" "0" "" "" "g.160136665T>C" "" "pathogenic" ""
"0000175141" "0" "99" "1" "160106704" "160106704" "subst" "0" "01534" "ATP1A2_000063" "g.160106704G>A" "" "" "" "" "Protein location: M7-M8" "Germline" "" "" "0" "" "" "g.160136914G>A" "" "pathogenic" ""
"0000175142" "0" "99" "1" "160106763" "160106763" "subst" "0" "01534" "ATP1A2_000077" "g.160106763T>C" "" "" "" "" "Protein location: M8" "Germline" "" "" "0" "" "" "g.160136973T>C" "" "pathogenic" ""
"0000175143" "0" "99" "1" "160109745" "160109745" "subst" "0" "01534" "ATP1A2_000065" "g.160109745G>A" "" "" "" "" "Protein location: M10" "Germline" "" "" "0" "" "" "g.160139955G>A" "" "pathogenic" ""
"0000251192" "0" "10" "1" "160110965" "160110965" "subst" "0" "02326" "ATP1A2_000128" "g.160110965A>G" "" "" "" "ATP1A2(NM_000702.2):c.3035-119A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160141175A>G" "" "benign" ""
"0000252005" "0" "30" "1" "160099823" "160099823" "subst" "0" "02326" "ATP1A2_000119" "g.160099823A>G" "" "" "" "ATP1A2(NM_000702.2):c.1462-69A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160130033A>G" "" "likely benign" ""
"0000259179" "0" "10" "1" "160090685" "160090688" "del" "0" "02325" "ATP1A2_000082" "g.160090685_160090688del" "" "" "" "ATP1A2(NM_000702.4):c.13-11_13-8delTCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160120895_160120898del" "" "benign" ""
"0000259180" "0" "30" "1" "160109410" "160109410" "dup" "0" "02325" "ATP1A2_000058" "g.160109410dup" "" "" "" "ATP1A2(NM_000702.4):c.2841-19delTinsCT, ATP1A2(NM_000702.4):c.2841-20dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160139620dup" "" "likely benign" ""
"0000259181" "0" "10" "1" "160093222" "160093222" "subst" "0.98815" "02325" "ATP1A2_000078" "g.160093222C>T" "" "" "" "ATP1A2(NM_000702.4):c.381+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160123432C>T" "" "benign" ""
"0000261171" "0" "30" "1" "160085604" "160085604" "subst" "0.00364396" "02326" "ATP1A2_000104" "g.160085604C>G" "" "" "" "ATP1A2(NM_000702.2):c.-48C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160115814C>G" "" "likely benign" ""
"0000261172" "0" "30" "1" "160111174" "160111174" "subst" "0" "02326" "ATP1A2_000129" "g.160111174G>T" "" "" "" "ATP1A2(NM_000702.2):c.*62G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160141384G>T" "" "likely benign" ""
"0000261173" "0" "10" "1" "160098688" "160098688" "subst" "0.00649014" "02326" "ATP1A2_000046" "g.160098688G>A" "" "" "" "ATP1A2(NM_000702.2):c.1216+48G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160128898G>A" "" "benign" ""
"0000261174" "0" "10" "1" "160098645" "160098645" "subst" "2.4374E-5" "02326" "ATP1A2_000113" "g.160098645T>C" "" "" "" "ATP1A2(NM_000702.2):c.1216+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160128855T>C" "" "benign" ""
"0000261175" "0" "10" "1" "160090562" "160090562" "subst" "0" "02326" "ATP1A2_000105" "g.160090562C>T" "" "" "" "ATP1A2(NM_000702.2):c.13-134C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160120772C>T" "" "benign" ""
"0000261176" "0" "30" "1" "160090682" "160090683" "del" "0" "02326" "ATP1A2_000106" "g.160090682_160090683del" "" "" "" "ATP1A2(NM_000702.2):c.13-14_13-13delCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160120892_160120893del" "" "likely benign" ""
"0000261177" "0" "30" "1" "160098873" "160098873" "subst" "0" "02326" "ATP1A2_000115" "g.160098873G>T" "" "" "" "ATP1A2(NM_000702.2):c.1320G>T (p.V440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160129083G>T" "" "likely benign" ""
"0000261178" "0" "30" "1" "160098946" "160098946" "subst" "0" "02326" "ATP1A2_000116" "g.160098946C>T" "" "" "" "ATP1A2(NM_000702.2):c.1326+67C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160129156C>T" "" "likely benign" ""
"0000261179" "0" "30" "1" "160099305" "160099305" "subst" "0" "02326" "ATP1A2_000118" "g.160099305C>T" "" "" "" "ATP1A2(NM_000702.2):c.1461+115C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160129515C>T" "" "likely benign" ""
"0000261180" "0" "30" "1" "160099281" "160099281" "subst" "0" "02326" "ATP1A2_000117" "g.160099281G>C" "" "" "" "ATP1A2(NM_000702.2):c.1461+91G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160129491G>C" "" "likely benign" ""
"0000261181" "0" "10" "1" "160100201" "160100201" "subst" "0.0326412" "02326" "ATP1A2_000048" "g.160100201C>G" "" "" "" "ATP1A2(NM_000702.2):c.1652-11C>G, ATP1A2(NM_000702.3):c.1652-11C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160130411C>G" "" "benign" ""
"0000261182" "0" "30" "1" "160100205" "160100205" "subst" "0.000353328" "02326" "ATP1A2_000120" "g.160100205C>A" "" "" "" "ATP1A2(NM_000702.2):c.1652-7C>A, ATP1A2(NM_000702.3):c.1652-7C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160130415C>A" "" "likely benign" ""
"0000261183" "0" "10" "1" "160100264" "160100264" "subst" "0.0287585" "02326" "ATP1A2_000045" "g.160100264C>T" "" "" "" "ATP1A2(NM_000702.2):c.1704C>T (p.F568=), ATP1A2(NM_000702.3):c.1704C>T (p.(Phe568=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160130474C>T" "" "benign" ""
"0000261184" "0" "30" "1" "160091137" "160091137" "subst" "0" "02326" "ATP1A2_000108" "g.160091137T>C" "" "" "" "ATP1A2(NM_000702.2):c.177+96T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160121347T>C" "" "likely benign" ""
"0000261185" "0" "10" "1" "160092982" "160092982" "subst" "0.00273939" "02326" "ATP1A2_000109" "g.160092982C>T" "" "" "" "ATP1A2(NM_000702.2):c.178-21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160123192C>T" "" "benign" ""
"0000261186" "0" "30" "1" "160104491" "160104491" "subst" "0" "02326" "ATP1A2_000123" "g.160104491T>A" "" "" "" "ATP1A2(NM_000702.2):c.1964+81T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160134701T>A" "" "likely benign" ""
"0000261187" "0" "30" "1" "160106117" "160106117" "subst" "3.6558E-5" "02326" "ATP1A2_000124" "g.160106117G>A" "" "" "" "ATP1A2(NM_000702.2):c.2520G>A (p.K840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160136327G>A" "" "likely benign" ""
"0000261188" "0" "30" "1" "160106732" "160106732" "subst" "0.000828669" "02326" "ATP1A2_000126" "g.160106732G>A" "" "" "" "ATP1A2(NM_000702.2):c.2751G>A (p.T917=), ATP1A2(NM_000702.3):c.2751G>A (p.(Thr917=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160136942G>A" "" "likely benign" ""
"0000261189" "0" "10" "1" "160106857" "160106857" "subst" "0.0139655" "02326" "ATP1A2_000054" "g.160106857G>A" "" "" "" "ATP1A2(NM_000702.2):c.2840+36G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160137067G>A" "" "benign" ""
"0000261190" "0" "30" "1" "160109668" "160109668" "subst" "0.00465608" "02326" "ATP1A2_000099" "g.160109668C>T" "" "" "" "ATP1A2(NM_000702.2):c.2943-15C>T, ATP1A2(NM_000702.3):c.2943-15C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160139878C>T" "" "likely benign" ""
"0000261191" "0" "30" "1" "160109918" "160109918" "subst" "0" "02326" "ATP1A2_000127" "g.160109918G>A" "" "" "" "ATP1A2(NM_000702.2):c.3034+144G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160140128G>A" "" "likely benign" ""
"0000261192" "0" "10" "1" "160093692" "160093692" "subst" "0.0140403" "02326" "ATP1A2_000091" "g.160093692G>T" "" "" "" "ATP1A2(NM_000702.2):c.382-41G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160123902G>T" "" "benign" ""
"0000261193" "0" "30" "1" "160094892" "160094892" "subst" "4.07691E-6" "02326" "ATP1A2_000111" "g.160094892C>G" "" "" "" "ATP1A2(NM_000702.2):c.631-34C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160125102C>G" "" "likely benign" ""
"0000263240" "0" "30" "1" "160098840" "160098840" "subst" "4.10526E-5" "01943" "ATP1A2_000114" "g.160098840C>T" "" "" "" "ATP1A2(NM_000702.2):c.1287C>T (p.A429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160129050C>T" "" "likely benign" ""
"0000263241" "0" "30" "1" "160090993" "160090993" "subst" "0.0017908" "01943" "ATP1A2_000107" "g.160090993G>A" "" "" "" "ATP1A2(NM_000702.2):c.129G>A (p.K43=), ATP1A2(NM_000702.3):c.129G>A (p.(Lys43=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160121203G>A" "" "likely benign" ""
"0000263242" "0" "30" "1" "160100205" "160100205" "subst" "0.000353328" "01943" "ATP1A2_000120" "g.160100205C>A" "" "" "" "ATP1A2(NM_000702.2):c.1652-7C>A, ATP1A2(NM_000702.3):c.1652-7C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160130415C>A" "" "likely benign" ""
"0000263243" "0" "30" "1" "160100205" "160100205" "subst" "0.000885351" "01943" "ATP1A2_000121" "g.160100205C>G" "" "" "" "ATP1A2(NM_000702.2):c.1652-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160130415C>G" "" "likely benign" ""
"0000263244" "0" "50" "1" "160090708" "160090708" "subst" "0.00168136" "01943" "ATP1A2_000066" "g.160090708T>A" "" "" "" "ATP1A2(NM_000702.2):c.25T>A (p.Y9N), ATP1A2(NM_000702.3):c.25T>A (p.(Tyr9Asn)), ATP1A2(NM_000702.4):c.25T>A (p.Y9N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160120918T>A" "" "VUS" ""
"0000263245" "0" "70" "1" "160106416" "160106416" "subst" "0" "01943" "ATP1A2_000125" "g.160106416G>A" "" "" "" "ATP1A2(NM_000702.2):c.2620G>A (p.G874S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160136626G>A" "" "likely pathogenic" ""
"0000321081" "0" "50" "1" "160097455" "160097455" "subst" "7.71624E-5" "01804" "ATP1A2_000112" "g.160097455C>T" "" "" "" "ATP1A2(NM_000702.2):c.862C>T (p.H288Y), ATP1A2(NM_000702.3):c.862C>T (p.(His288Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160127665C>T" "" "VUS" ""
"0000337305" "0" "10" "1" "160093222" "160093222" "subst" "0.98815" "02327" "ATP1A2_000078" "g.160093222C>T" "" "" "" "ATP1A2(NM_000702.4):c.381+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160123432C>T" "" "benign" ""
"0000337306" "0" "10" "1" "160100201" "160100201" "subst" "0.0326412" "02327" "ATP1A2_000048" "g.160100201C>G" "" "" "" "ATP1A2(NM_000702.2):c.1652-11C>G, ATP1A2(NM_000702.3):c.1652-11C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160130411C>G" "" "benign" ""
"0000337307" "0" "10" "1" "160109788" "160109788" "subst" "0.130973" "02327" "ATP1A2_000057" "g.160109788C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160139998C>T" "" "benign" ""
"0000339178" "0" "50" "1" "160098841" "160098841" "subst" "2.46148E-5" "02327" "ATP1A2_000136" "g.160098841G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160129051G>A" "" "VUS" ""
"0000339502" "0" "10" "1" "160098543" "160098543" "subst" "0.19024" "02327" "ATP1A2_000044" "g.160098543G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160128753G>A" "" "benign" ""
"0000340886" "0" "10" "1" "160100264" "160100264" "subst" "0.0287585" "02327" "ATP1A2_000045" "g.160100264C>T" "" "" "" "ATP1A2(NM_000702.2):c.1704C>T (p.F568=), ATP1A2(NM_000702.3):c.1704C>T (p.(Phe568=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160130474C>T" "" "benign" ""
"0000341420" "0" "90" "1" "160098583" "160098583" "subst" "0" "02327" "ATP1A2_000135" "g.160098583G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160128793G>A" "" "pathogenic" ""
"0000341540" "0" "50" "1" "160104945" "160104945" "subst" "0" "02327" "ATP1A2_000138" "g.160104945G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160135155G>T" "" "VUS" ""
"0000341580" "0" "10" "1" "160105367" "160105367" "subst" "0.111779" "02327" "ATP1A2_000051" "g.160105367C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160135577C>T" "" "benign" ""
"0000341639" "0" "50" "1" "160109468" "160109468" "subst" "0" "02327" "ATP1A2_000083" "g.160109468C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160139678C>T" "" "VUS" ""
"0000343406" "0" "50" "1" "160106097" "160106097" "subst" "4.0618E-6" "02327" "ATP1A2_000062" "g.160106097C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160136307C>T" "" "VUS" ""
"0000344132" "0" "30" "1" "160100028" "160100028" "subst" "0" "02327" "ATP1A2_000137" "g.160100028A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160130238A>T" "" "likely benign" ""
"0000344173" "0" "30" "1" "160104996" "160104996" "subst" "4.06884E-6" "02327" "ATP1A2_000139" "g.160104996G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160135206G>A" "" "likely benign" ""
"0000344233" "0" "50" "1" "160093150" "160093150" "subst" "0" "02327" "ATP1A2_000131" "g.160093150T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160123360T>C" "" "VUS" ""
"0000347792" "0" "30" "1" "160097388" "160097388" "subst" "0" "02327" "ATP1A2_000132" "g.160097388G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160127598G>A" "" "likely benign" ""
"0000349473" "0" "50" "1" "160098515" "160098515" "subst" "0" "02327" "ATP1A2_000134" "g.160098515C>T" "" "" "" "ATP1A2(NM_000702.2):c.1091C>T (p.T364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160128725C>T" "" "VUS" ""
"0000350464" "0" "50" "1" "160097485" "160097485" "subst" "1.21838E-5" "02327" "ATP1A2_000133" "g.160097485G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160127695G>C" "" "VUS" ""
"0000437918" "20" "75" "1" "160093018" "160093018" "subst" "6.91591E-5" "00753" "ATP1A2_000001" "g.160093018C>T" "" "{PMID:Tonelli 2007:17877748}" "" "" "not in 400 controls" "Germline" "" "" "0" "" "" "g.160123228C>T" "" "likely pathogenic" ""
"0000437919" "20" "75" "1" "160093018" "160093018" "subst" "6.91591E-5" "00753" "ATP1A2_000001" "g.160093018C>T" "" "{PMID:Tonelli 2007:17877748}" "" "" "not in 400 controls" "Germline" "" "" "0" "" "" "g.160123228C>T" "" "likely pathogenic" ""
"0000437920" "20" "75" "1" "160093018" "160093018" "subst" "6.91591E-5" "00753" "ATP1A2_000001" "g.160093018C>T" "" "{PMID:Tonelli 2007:17877748}" "" "" "not in 400 controls" "Germline" "" "" "0" "" "" "g.160123228C>T" "" "likely pathogenic" ""
"0000437921" "0" "75" "1" "160097381" "160097381" "subst" "0" "00753" "ATP1A2_000002" "g.160097381C>T" "" "{PMID:Riant 2005:16088919}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160127591C>T" "" "likely pathogenic" ""
"0000437922" "21" "55" "1" "160097450" "160097450" "subst" "0" "00753" "ATP1A2_000003" "g.160097450T>C" "" "{PMID:Vanmolkot 2007:17473835}" "" "961T>C (I286T)" "" "Germline" "" "" "0" "" "" "g.160127660T>C" "" "VUS" ""
"0000437923" "0" "55" "1" "160097494" "160097494" "subst" "0" "00753" "ATP1A2_000004" "g.160097494G>A" "" "{PMID:Spadaro 2004:15459825}" "" "" "" "Germline" "" "" "0" "" "" "g.160127704G>A" "" "VUS" ""
"0000437924" "0" "55" "1" "160097494" "160097494" "subst" "0" "00753" "ATP1A2_000004" "g.160097494G>A" "" "{PMID:Spadaro 2004:15459825}" "" "" "" "Germline" "" "" "0" "" "" "g.160127704G>A" "" "VUS" ""
"0000437925" "0" "55" "1" "160097494" "160097494" "subst" "0" "00753" "ATP1A2_000004" "g.160097494G>A" "" "{PMID:Spadaro 2004:15459825}" "" "" "" "Germline" "" "" "0" "" "" "g.160127704G>A" "" "VUS" ""
"0000437926" "0" "55" "1" "160097494" "160097494" "subst" "0" "00753" "ATP1A2_000004" "g.160097494G>A" "" "{PMID:Spadaro 2004:15459825}" "" "" "" "Germline" "" "" "0" "" "" "g.160127704G>A" "" "VUS" ""
"0000437927" "0" "55" "1" "160097494" "160097494" "subst" "0" "00753" "ATP1A2_000004" "g.160097494G>A" "" "{PMID:Spadaro 2004:15459825}" "" "" "" "Germline" "" "" "0" "" "" "g.160127704G>A" "" "VUS" ""
"0000437928" "0" "55" "1" "160097494" "160097494" "subst" "0" "00753" "ATP1A2_000004" "g.160097494G>A" "" "{PMID:Spadaro 2004:15459825}" "" "" "" "Germline" "" "" "0" "" "" "g.160127704G>A" "" "VUS" ""
"0000437929" "0" "55" "1" "160097494" "160097494" "subst" "0" "00753" "ATP1A2_000004" "g.160097494G>A" "" "{PMID:Spadaro 2004:15459825}" "" "" "" "Germline" "" "" "0" "" "" "g.160127704G>A" "" "VUS" ""
"0000437930" "0" "55" "1" "160097494" "160097494" "subst" "0" "00753" "ATP1A2_000004" "g.160097494G>A" "" "{PMID:Spadaro 2004:15459825}" "" "" "" "Germline" "" "" "0" "" "" "g.160127704G>A" "" "VUS" ""
"0000437931" "0" "55" "1" "160097494" "160097494" "subst" "0" "00753" "ATP1A2_000004" "g.160097494G>A" "" "{PMID:Spadaro 2004:15459825}" "" "" "" "Germline" "" "" "0" "" "" "g.160127704G>A" "" "VUS" ""
"0000437932" "0" "77" "1" "160098457" "160098457" "subst" "0" "00753" "ATP1A2_000005" "g.160098457A>G" "" "{PMID:Kaunisto 2004:15133718}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128667A>G" "" "likely pathogenic" ""
"0000437933" "0" "55" "1" "160098457" "160098457" "subst" "0" "00753" "ATP1A2_000005" "g.160098457A>G" "" "{PMID:Kaunisto 2004:15133718}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128667A>G" "" "VUS" ""
"0000437934" "10" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Castro 2007:17952365}" "" "c.1231C>T" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437935" "10" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Castro 2007:17952365}" "" "c.1231C>T" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437936" "21" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Castro 2007:17952365}" "" "c.1231C>T" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437937" "21" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Castro 2007:17952365}" "" "c.1231C>T" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437938" "21" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Castro 2007:17952365}" "" "c.1231C>T" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437939" "21" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Castro 2007:17952365}" "" "c.1231C>T" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437940" "11" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Castro 2007:17952365}" "" "c.1231C>T" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437941" "11" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Castro 2007:17952365}" "" "c.1231C>T" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437942" "21" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Castro 2007:17952365}" "" "c.1231C>T" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437943" "11" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Castro 2007:17952365}" "" "c.1231C>T" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437944" "0" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Riant 2005:16088919}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437945" "21" "77" "1" "160098551" "160098551" "subst" "0" "00753" "ATP1A2_000006" "g.160098551C>T" "" "{PMID:Riant 2005:16088919}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160128761C>T" "" "likely pathogenic" ""
"0000437946" "0" "55" "1" "160098557" "160098557" "subst" "0" "00753" "ATP1A2_000007" "g.160098557C>A" "" "{PMID:Swoboda 2004:15174025}" "" "" "" "Germline" "" "" "0" "" "" "g.160128767C>A" "" "VUS" ""
"0000437947" "0" "55" "1" "160098557" "160098557" "subst" "0" "00753" "ATP1A2_000007" "g.160098557C>A" "" "{PMID:Swoboda 2004:15174025}" "" "" "" "Germline" "" "" "0" "" "" "g.160128767C>A" "" "VUS" ""
"0000437948" "0" "55" "1" "160098557" "160098557" "subst" "0" "00753" "ATP1A2_000007" "g.160098557C>A" "" "{PMID:Swoboda 2004:15174025}" "" "" "" "Germline" "" "" "0" "" "" "g.160128767C>A" "" "VUS" ""
"0000437949" "0" "55" "1" "160098557" "160098557" "subst" "0" "00753" "ATP1A2_000007" "g.160098557C>A" "" "{PMID:Swoboda 2004:15174025}" "" "" "" "Germline" "" "" "0" "" "" "g.160128767C>A" "" "VUS" ""
"0000437950" "0" "55" "1" "160098572" "160098572" "subst" "0" "00753" "ATP1A2_000008" "g.160098572G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160128782G>A" "" "VUS" ""
"0000437951" "11" "55" "1" "160098797" "160098797" "subst" "1.26883E-5" "00753" "ATP1A2_000009" "g.160098797C>T" "" "{PMID:Lebas 2008:18498390}" "" "1348C>T" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160129007C>T" "" "VUS" ""
"0000437952" "0" "77" "1" "160100072" "160100072" "subst" "0" "00753" "ATP1A2_000010" "g.160100072C>T" "" "{PMID:Lebas 2008:18498390}" "" "1642C>T" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160130282C>T" "" "likely pathogenic" ""
"0000437953" "21" "77" "1" "160100072" "160100072" "subst" "0" "00753" "ATP1A2_000010" "g.160100072C>T" "" "{PMID:Lebas 2008:18498390}" "" "1642C>T" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160130282C>T" "" "likely pathogenic" ""
"0000437954" "21" "77" "1" "160100072" "160100072" "subst" "0" "00753" "ATP1A2_000010" "g.160100072C>T" "" "{PMID:Lebas 2008:18498390}" "" "1642C>T" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160130282C>T" "" "likely pathogenic" ""
"0000437955" "11" "77" "1" "160100072" "160100072" "subst" "0" "00753" "ATP1A2_000010" "g.160100072C>T" "" "{PMID:Lebas 2008:18498390}" "" "1642C>T" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160130282C>T" "" "likely pathogenic" ""
"0000437956" "0" "77" "1" "160100337" "160100337" "subst" "0" "00753" "ATP1A2_000011" "g.160100337C>T" "" "{PMID:Vanmolkot 2006:16538223}" "SmaI-" "1881C>T" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160130547C>T" "" "likely pathogenic" ""
"0000437957" "21" "77" "1" "160100337" "160100337" "subst" "0" "00753" "ATP1A2_000011" "g.160100337C>T" "" "{PMID:Vanmolkot 2006:16538223}" "SmaI-" "1881C>T" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160130547C>T" "" "likely pathogenic" ""
"0000437958" "0" "77" "1" "160100376" "160100376" "subst" "0" "00753" "ATP1A2_000012" "g.160100376G>A" "" "{PMID:Riant 2005:16088919}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160130586G>A" "" "likely pathogenic" ""
"0000437959" "0" "77" "1" "160100376" "160100376" "subst" "0" "00753" "ATP1A2_000012" "g.160100376G>A" "" "{PMID:Riant 2005:16088919}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160130586G>A" "" "likely pathogenic" ""
"0000437961" "21" "77" "1" "160100376" "160100376" "subst" "0" "00753" "ATP1A2_000012" "g.160100376G>A" "" "{PMID:Jen 2007:17435187}" "" "" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160130586G>A" "" "likely pathogenic" ""
"0000437962" "0" "77" "1" "160100376" "160100376" "subst" "0" "00753" "ATP1A2_000012" "g.160100376G>A" "" "{PMID:Riant 2005:16088919}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160130586G>A" "" "likely pathogenic" ""
"0000437963" "21" "77" "1" "160104289" "160104289" "subst" "0" "00753" "ATP1A2_000013" "g.160104289G>A" "" "{PMID:Vanmolkot 2006:16437583}" "MvaI+" "1947G>A" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160134499G>A" "" "likely pathogenic" ""
"0000437964" "11" "77" "1" "160104289" "160104289" "subst" "0" "00753" "ATP1A2_000013" "g.160104289G>A" "" "{PMID:Vanmolkot 2006:16437583}" "MvaI+" "1947G>A" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160134499G>A" "" "likely pathogenic" ""
"0000437965" "0" "77" "1" "160104328" "160104328" "subst" "0" "00753" "ATP1A2_000014" "g.160104328G>A" "" "{PMID:Vanmolkot 2006:16538223}" "" "1987G>A" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160134538G>A" "" "likely pathogenic" ""
"0000437966" "20" "77" "1" "160104328" "160104328" "subst" "0" "00753" "ATP1A2_000014" "g.160104328G>A" "" "{PMID:Vanmolkot 2006:16538223}" "" "1987G>A" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160134538G>A" "" "likely pathogenic" ""
"0000437967" "20" "77" "1" "160104328" "160104328" "subst" "0" "00753" "ATP1A2_000014" "g.160104328G>A" "" "{PMID:Vanmolkot 2006:16538223}" "" "1987G>A" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160134538G>A" "" "likely pathogenic" ""
"0000437968" "21" "77" "1" "160104328" "160104328" "subst" "0" "00753" "ATP1A2_000014" "g.160104328G>A" "" "{PMID:Vanmolkot 2006:16538223}" "" "1987G>A" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160134538G>A" "" "likely pathogenic" ""
"0000437969" "21" "77" "1" "160104328" "160104328" "subst" "0" "00753" "ATP1A2_000014" "g.160104328G>A" "" "{PMID:Vanmolkot 2006:16538223}" "" "1987G>A" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160134538G>A" "" "likely pathogenic" ""
"0000437970" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437971" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437972" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437973" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437974" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437975" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437976" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437977" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437978" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437979" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437980" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437981" "0" "77" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "likely pathogenic" ""
"0000437982" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437983" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437984" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437985" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437986" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437987" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437988" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Vanmolkot 2003:12953268}, {PMID:Terwindt 1997:9579893}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135246G>A" "" "VUS" ""
"0000437989" "0" "77" "1" "160105068" "160105068" "subst" "0" "00753" "ATP1A2_000016" "g.160105068G>A" "" "{PMID:Pierelli 2006:16472340}" "BstXI-" "" "not in 400 controls" "Germline" "" "" "0" "" "" "g.160135278G>A" "" "likely pathogenic" ""
"0000437990" "21" "77" "1" "160105068" "160105068" "subst" "0" "00753" "ATP1A2_000016" "g.160105068G>A" "" "{PMID:Pierelli 2006:16472340}" "BstXI-" "" "not in 400 controls" "Germline" "" "" "0" "" "" "g.160135278G>A" "" "likely pathogenic" ""
"0000437991" "21" "77" "1" "160105068" "160105068" "subst" "0" "00753" "ATP1A2_000016" "g.160105068G>A" "" "{PMID:Pierelli 2006:16472340}" "BstXI-" "" "not in 400 controls" "Germline" "" "" "0" "" "" "g.160135278G>A" "" "likely pathogenic" ""
"0000437992" "0" "55" "1" "160105260" "160105260" "subst" "0" "00753" "ATP1A2_000017" "g.160105260G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160135470G>A" "" "VUS" ""
"0000437993" "0" "55" "1" "160105260" "160105260" "subst" "0" "00753" "ATP1A2_000017" "g.160105260G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160135470G>A" "" "VUS" ""
"0000437994" "0" "55" "1" "160105260" "160105260" "subst" "0" "00753" "ATP1A2_000017" "g.160105260G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160135470G>A" "" "VUS" ""
"0000437995" "0" "55" "1" "160105260" "160105260" "subst" "0" "00753" "ATP1A2_000017" "g.160105260G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160135470G>A" "" "VUS" ""
"0000437996" "0" "55" "1" "160105260" "160105260" "subst" "0" "00753" "ATP1A2_000017" "g.160105260G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160135470G>A" "" "VUS" ""
"0000437997" "0" "55" "1" "160105260" "160105260" "subst" "0" "00753" "ATP1A2_000017" "g.160105260G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160135470G>A" "" "VUS" ""
"0000437998" "0" "55" "1" "160105260" "160105260" "subst" "0" "00753" "ATP1A2_000017" "g.160105260G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160135470G>A" "" "VUS" ""
"0000437999" "0" "77" "1" "160105300" "160105300" "subst" "0" "00753" "ATP1A2_000018" "g.160105300T>C" "" "{PMID:Castro 2007:17952365}" "NcoI-" "c.2296T>C" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135510T>C" "" "likely pathogenic" ""
"0000438000" "21" "77" "1" "160105300" "160105300" "subst" "0" "00753" "ATP1A2_000018" "g.160105300T>C" "" "{PMID:Castro 2007:17952365}" "NcoI-" "c.2296T>C" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135510T>C" "" "likely pathogenic" ""
"0000438001" "21" "77" "1" "160105300" "160105300" "subst" "0" "00753" "ATP1A2_000018" "g.160105300T>C" "" "{PMID:Castro 2007:17952365}" "NcoI-" "c.2296T>C" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135510T>C" "" "likely pathogenic" ""
"0000438002" "21" "77" "1" "160105300" "160105300" "subst" "0" "00753" "ATP1A2_000018" "g.160105300T>C" "" "{PMID:Castro 2007:17952365}" "NcoI-" "c.2296T>C" "not in 352 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135510T>C" "" "likely pathogenic" ""
"0000438003" "0" "55" "1" "160105300" "160105300" "subst" "0" "00753" "ATP1A2_000018" "g.160105300T>C" "" "{PMID:Vanmolkot 2003:12953268}" "NcoI-" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135510T>C" "" "VUS" ""
"0000438004" "0" "77" "1" "160105300" "160105300" "subst" "0" "00753" "ATP1A2_000018" "g.160105300T>C" "" "{PMID:Vanmolkot 2003:12953268}" "NcoI-" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135510T>C" "" "likely pathogenic" ""
"0000438005" "0" "55" "1" "160105300" "160105300" "subst" "0" "00753" "ATP1A2_000018" "g.160105300T>C" "" "{PMID:Vanmolkot 2003:12953268}" "NcoI-" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135510T>C" "" "VUS" ""
"0000438006" "0" "55" "1" "160105300" "160105300" "subst" "0" "00753" "ATP1A2_000018" "g.160105300T>C" "" "{PMID:Vanmolkot 2003:12953268}" "NcoI-" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135510T>C" "" "VUS" ""
"0000438007" "0" "55" "1" "160105300" "160105300" "subst" "0" "00753" "ATP1A2_000018" "g.160105300T>C" "" "{PMID:Vanmolkot 2003:12953268}" "NcoI-" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135510T>C" "" "VUS" ""
"0000438008" "0" "55" "1" "160105632" "160105632" "subst" "4.06138E-6" "00753" "ATP1A2_000019" "g.160105632G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160135842G>A" "" "VUS" ""
"0000438009" "0" "55" "1" "160105632" "160105632" "subst" "4.06138E-6" "00753" "ATP1A2_000019" "g.160105632G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160135842G>A" "" "VUS" ""
"0000438010" "0" "55" "1" "160105632" "160105632" "subst" "4.06138E-6" "00753" "ATP1A2_000019" "g.160105632G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160135842G>A" "" "VUS" ""
"0000438011" "0" "77" "1" "160105635" "160105635" "subst" "0" "00753" "ATP1A2_000020" "g.160105635T>C" "" "{PMID:De Fusco 2003:12539047}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135845T>C" "" "likely pathogenic" ""
"0000438012" "0" "55" "1" "160105635" "160105635" "subst" "0" "00753" "ATP1A2_000020" "g.160105635T>C" "" "{PMID:De Fusco 2003:12539047}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135845T>C" "" "VUS" ""
"0000438013" "0" "55" "1" "160105635" "160105635" "subst" "0" "00753" "ATP1A2_000020" "g.160105635T>C" "" "{PMID:De Fusco 2003:12539047}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135845T>C" "" "VUS" ""
"0000438014" "0" "55" "1" "160105635" "160105635" "subst" "0" "00753" "ATP1A2_000020" "g.160105635T>C" "" "{PMID:De Fusco 2003:12539047}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135845T>C" "" "VUS" ""
"0000438015" "0" "77" "1" "160105635" "160105635" "subst" "0" "00753" "ATP1A2_000020" "g.160105635T>C" "" "{PMID:De Fusco 2003:12539047}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135845T>C" "" "likely pathogenic" ""
"0000438016" "0" "55" "1" "160105635" "160105635" "subst" "0" "00753" "ATP1A2_000020" "g.160105635T>C" "" "{PMID:De Fusco 2003:12539047}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135845T>C" "" "VUS" ""
"0000438017" "0" "55" "1" "160105731" "160105731" "subst" "0" "00753" "ATP1A2_000021" "g.160105731C>G" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160135941C>G" "" "VUS" ""
"0000438018" "0" "77" "1" "160106083" "160106083" "subst" "0" "00753" "ATP1A2_000022" "g.160106083T>G" "" "{PMID:Riant 2005:16088919}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160136293T>G" "" "likely pathogenic" ""
"0000438019" "20" "75" "1" "160106098" "160106098" "subst" "0" "00753" "ATP1A2_000023" "g.160106098G>A" "" "{PMID:Riant 2005:16088919}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160136308G>A" "" "likely pathogenic" ""
"0000438020" "0" "55" "1" "160106455" "160106455" "subst" "0" "00753" "ATP1A2_000024" "g.160106455T>C" "" "{PMID:De Fusco 2003:12539047}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160136665T>C" "" "VUS" ""
"0000438021" "0" "55" "1" "160106455" "160106455" "subst" "0" "00753" "ATP1A2_000024" "g.160106455T>C" "" "{PMID:De Fusco 2003:12539047}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160136665T>C" "" "VUS" ""
"0000438022" "0" "77" "1" "160106455" "160106455" "subst" "0" "00753" "ATP1A2_000024" "g.160106455T>C" "" "{PMID:De Fusco 2003:12539047}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.160136665T>C" "" "likely pathogenic" ""
"0000438023" "0" "55" "1" "160106500" "160106500" "subst" "0" "00753" "ATP1A2_000025" "g.160106500G>A" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160136710G>A" "" "VUS" ""
"0000438024" "21" "77" "1" "160106785" "160106801" "delins" "0" "00753" "ATP1A2_000026" "g.160106785_160106801delinsTT" "" "{PMID:Riant 2005:16088919}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160136995_160137011delinsTT" "" "likely pathogenic" ""
"0000438025" "0" "77" "1" "160106791" "160106791" "subst" "0" "00753" "ATP1A2_000027" "g.160106791G>C" "" "{PMID:Riant 2005:16088919}" "" "c.2810G>A" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160137001G>C" "" "likely pathogenic" ""
"0000438026" "0" "77" "1" "160109486" "160109487" "del" "0" "00753" "ATP1A2_000028" "g.160109486_160109487del" "" "{PMID:Riant 2005:16088919}" "" "c.2897_2898_delCT" "not in 200 controls" "Germline" "" "" "0" "" "" "g.160139696_160139697del" "" "likely pathogenic" ""
"0000438027" "0" "55" "1" "160109525" "160109525" "subst" "0" "00753" "ATP1A2_000029" "g.160109525C>T" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160139735C>T" "" "VUS" ""
"0000438028" "0" "55" "1" "160109525" "160109525" "subst" "0" "00753" "ATP1A2_000029" "g.160109525C>T" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160139735C>T" "" "VUS" ""
"0000438029" "0" "55" "1" "160109525" "160109525" "subst" "0" "00753" "ATP1A2_000029" "g.160109525C>T" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160139735C>T" "" "VUS" ""
"0000438030" "0" "55" "1" "160109525" "160109525" "subst" "0" "00753" "ATP1A2_000029" "g.160109525C>T" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160139735C>T" "" "VUS" ""
"0000438031" "0" "55" "1" "160109525" "160109525" "subst" "0" "00753" "ATP1A2_000029" "g.160109525C>T" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160139735C>T" "" "VUS" ""
"0000438032" "10" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2008:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438033" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438034" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438035" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438036" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2008:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438037" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438038" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438039" "10" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438040" "10" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438041" "10" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438042" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2008:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438043" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2008:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438044" "21" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438045" "21" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438046" "21" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438047" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438048" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438049" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2008:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438050" "11" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438051" "21" "77" "1" "160109735" "160109735" "subst" "0" "00753" "ATP1A2_000030" "g.160109735G>C" "" "{PMID:Fernandez 2007:18184292}" "NlaIII+" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.160139945G>C" "" "likely pathogenic" ""
"0000438052" "0" "55" "1" "160111110" "160111110" "subst" "0" "00753" "ATP1A2_000031" "g.160111110T>C" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160141320T>C" "" "VUS" ""
"0000438053" "0" "55" "1" "160111110" "160111110" "subst" "0" "00753" "ATP1A2_000031" "g.160111110T>C" "" "{PMID:Jurkat-Rott 2004:15159495}" "" "" "" "Germline" "" "" "0" "" "" "g.160141320T>C" "" "VUS" ""
"0000438054" "0" "97" "1" "160098509" "160098509" "subst" "0" "00753" "ATP1A2_000032" "g.160098509T>A" "" "{PMID:Castro 2008:18028456}" "" "c.1189T>A" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128719T>A" "" "pathogenic" ""
"0000438055" "11" "97" "1" "160098509" "160098509" "subst" "0" "00753" "ATP1A2_000032" "g.160098509T>A" "" "{PMID:Castro 2008:18028456}" "" "c.1189T>A" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160128719T>A" "" "pathogenic" ""
"0000438056" "0" "75" "1" "160093764" "160093764" "subst" "0" "00753" "ATP1A2_000033" "g.160093764T>C" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160123974T>C" "" "likely pathogenic" ""
"0000438057" "0" "75" "1" "160093764" "160093764" "subst" "0" "00753" "ATP1A2_000033" "g.160093764T>C" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160123974T>C" "" "likely pathogenic" ""
"0000438058" "21" "75" "1" "160093764" "160093764" "subst" "0" "00753" "ATP1A2_000033" "g.160093764T>C" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160123974T>C" "" "likely pathogenic" ""
"0000438059" "21" "75" "1" "160093764" "160093764" "subst" "0" "00753" "ATP1A2_000033" "g.160093764T>C" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160123974T>C" "" "likely pathogenic" ""
"0000438060" "21" "75" "1" "160093764" "160093764" "subst" "0" "00753" "ATP1A2_000033" "g.160093764T>C" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160123974T>C" "" "likely pathogenic" ""
"0000438061" "0" "75" "1" "160094195" "160094195" "subst" "0" "00753" "ATP1A2_000034" "g.160094195G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "likely pathogenic" ""
"0000438062" "0" "75" "1" "160094195" "160094195" "subst" "0" "00753" "ATP1A2_000034" "g.160094195G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "likely pathogenic" ""
"0000438063" "0" "75" "1" "160094195" "160094195" "subst" "0" "00753" "ATP1A2_000034" "g.160094195G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "likely pathogenic" ""
"0000438064" "0" "75" "1" "160094195" "160094195" "subst" "0" "00753" "ATP1A2_000034" "g.160094195G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "likely pathogenic" ""
"0000438065" "0" "75" "1" "160094195" "160094195" "subst" "0" "00753" "ATP1A2_000034" "g.160094195G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "likely pathogenic" ""
"0000438066" "0" "75" "1" "160094195" "160094195" "subst" "0" "00753" "ATP1A2_000034" "g.160094195G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "likely pathogenic" ""
"0000438067" "21" "75" "1" "160094195" "160094195" "subst" "0" "00753" "ATP1A2_000034" "g.160094195G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "likely pathogenic" ""
"0000438068" "11" "75" "1" "160094195" "160094195" "subst" "0" "00753" "ATP1A2_000034" "g.160094195G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "likely pathogenic" ""
"0000438069" "11" "75" "1" "160094195" "160094195" "subst" "0" "00753" "ATP1A2_000034" "g.160094195G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "likely pathogenic" ""
"0000438070" "11" "75" "1" "160094195" "160094195" "subst" "0" "00753" "ATP1A2_000034" "g.160094195G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "likely pathogenic" ""
"0000438071" "0" "75" "1" "160094195" "160094195" "subst" "0" "00753" "ATP1A2_000034" "g.160094195G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160124405G>A" "" "likely pathogenic" ""
"0000438072" "0" "75" "1" "160105631" "160105631" "subst" "0" "00753" "ATP1A2_000035" "g.160105631C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160135841C>T" "" "likely pathogenic" ""
"0000438073" "11" "75" "1" "160105631" "160105631" "subst" "0" "00753" "ATP1A2_000035" "g.160105631C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160135841C>T" "" "likely pathogenic" ""
"0000438074" "0" "75" "1" "160105631" "160105631" "subst" "0" "00753" "ATP1A2_000035" "g.160105631C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160135841C>T" "" "likely pathogenic" ""
"0000438075" "0" "75" "1" "160105631" "160105631" "subst" "0" "00753" "ATP1A2_000035" "g.160105631C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.160135841C>T" "" "likely pathogenic" ""
"0000438076" "0" "97" "1" "160105730" "160105730" "subst" "0" "00753" "ATP1A2_000036" "g.160105730C>T" "" "{PMID:Castro 2008:18028456}" "FokI-" "c.2490C>T" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135940C>T" "" "pathogenic" ""
"0000438077" "21" "97" "1" "160105730" "160105730" "subst" "0" "00753" "ATP1A2_000036" "g.160105730C>T" "" "{PMID:Castro 2008:18028456}" "FokI-" "c.2490C>T" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135940C>T" "" "pathogenic" ""
"0000438078" "21" "97" "1" "160105730" "160105730" "subst" "0" "00753" "ATP1A2_000036" "g.160105730C>T" "" "{PMID:Castro 2008:18028456}" "FokI-" "c.2490C>T" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135940C>T" "" "pathogenic" ""
"0000438079" "0" "33" "1" "160090685" "160090688" "dup" "0" "00753" "ATP1A2_000037" "g.160090685_160090688dup" "0.27 in 100" "{PMID:Riant 2005:16088919}" "" "c.13-7_13-8insTCCT" "" "Germline" "" "rs35006059" "0" "" "" "g.160120895_160120898dup" "" "likely benign" ""
"0000438080" "0" "33" "1" "160093911" "160093911" "subst" "0" "00753" "ATP1A2_000038" "g.160093911C>T" "" "{PMID:Riant 2005:16088919}" "" "" "not in 50 controls\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs2820582" "0" "" "" "" "" "likely benign" ""
"0000438081" "0" "33" "1" "160093927" "160093927" "subst" "0" "00753" "ATP1A2_000039" "g.160093927T>A" "0.5 in 50" "{PMID:Riant 2005:16088919}" "" "" "" "Germline" "" "rs2854248" "0" "" "" "g.160124137T>A" "" "likely benign" ""
"0000438082" "0" "55" "1" "160105075" "160105075" "subst" "4.06237E-6" "00753" "ATP1A2_000040" "g.160105075G>A" "" "{PMID:Deprez 2008:18028407}" "" "c.2105G>A" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160135285G>A" "" "VUS" ""
"0000438083" "0" "55" "1" "160105075" "160105075" "subst" "4.06237E-6" "00753" "ATP1A2_000040" "g.160105075G>A" "" "{PMID:Deprez 2008:18028407}" "" "c.2105G>A" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160135285G>A" "" "VUS" ""
"0000438084" "0" "55" "1" "160105075" "160105075" "subst" "4.06237E-6" "00753" "ATP1A2_000040" "g.160105075G>A" "" "{PMID:Deprez 2008:18028407}" "" "c.2105G>A" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160135285G>A" "" "VUS" ""
"0000438085" "0" "55" "1" "160105075" "160105075" "subst" "4.06237E-6" "00753" "ATP1A2_000040" "g.160105075G>A" "" "{PMID:Deprez 2008:18028407}" "" "c.2105G>A" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160135285G>A" "" "VUS" ""
"0000438086" "21" "55" "1" "160105075" "160105075" "subst" "4.06237E-6" "00753" "ATP1A2_000040" "g.160105075G>A" "" "{PMID:Deprez 2008:18028407}" "" "c.2105G>A" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160135285G>A" "" "VUS" ""
"0000438087" "11" "55" "1" "160105075" "160105075" "subst" "4.06237E-6" "00753" "ATP1A2_000040" "g.160105075G>A" "" "{PMID:Deprez 2008:18028407}" "" "c.2105G>A" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160135285G>A" "" "VUS" ""
"0000438088" "0" "77" "1" "160106494" "160106494" "subst" "0" "00753" "ATP1A2_000041" "g.160106494G>C" "" "{PMID:Deprez 2008:18028407}" "" "c.2698G>C" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "likely pathogenic" ""
"0000438089" "21" "77" "1" "160106494" "160106494" "subst" "0" "00753" "ATP1A2_000041" "g.160106494G>C" "" "{PMID:Deprez 2008:18028407}" "" "c.2698G>C" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "likely pathogenic" ""
"0000438090" "21" "77" "1" "160106494" "160106494" "subst" "0" "00753" "ATP1A2_000041" "g.160106494G>C" "" "{PMID:Deprez 2008:18028407}" "" "c.2698G>C" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "likely pathogenic" ""
"0000438091" "21" "77" "1" "160106494" "160106494" "subst" "0" "00753" "ATP1A2_000041" "g.160106494G>C" "" "{PMID:Castro 2008:18028456}" "" "c.2698G>C" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "likely pathogenic" ""
"0000438092" "21" "77" "1" "160106494" "160106494" "subst" "0" "00753" "ATP1A2_000041" "g.160106494G>C" "" "{PMID:Deprez 2008:18028407}" "" "c.2698G>C" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "likely pathogenic" ""
"0000438093" "21" "77" "1" "160106494" "160106494" "subst" "0" "00753" "ATP1A2_000041" "g.160106494G>C" "" "{PMID:Deprez 2008:18028407}" "" "c.2698G>C" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "likely pathogenic" ""
"0000438094" "21" "77" "1" "160106494" "160106494" "subst" "0" "00753" "ATP1A2_000041" "g.160106494G>C" "" "{PMID:Deprez 2008:18028407}" "" "c.2698G>C" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "likely pathogenic" ""
"0000438095" "11" "77" "1" "160106494" "160106494" "subst" "0" "00753" "ATP1A2_000041" "g.160106494G>C" "" "{PMID:Deprez 2008:18028407}" "" "c.2698G>C" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "likely pathogenic" ""
"0000438096" "21" "77" "1" "160106494" "160106494" "subst" "0" "00753" "ATP1A2_000041" "g.160106494G>C" "" "{PMID:Deprez 2008:18028407}" "" "c.2698G>C" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "likely pathogenic" ""
"0000438097" "21" "77" "1" "160106494" "160106494" "subst" "0" "00753" "ATP1A2_000041" "g.160106494G>C" "" "{PMID:Deprez 2008:18028407}" "" "c.2698G>C" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "likely pathogenic" ""
"0000438098" "11" "77" "1" "160106494" "160106494" "subst" "0" "00753" "ATP1A2_000041" "g.160106494G>C" "" "{PMID:Deprez 2008:18028407}" "" "c.2698G>C" "not in 340 controls" "Germline" "" "" "0" "" "" "g.160136704G>C" "" "likely pathogenic" ""
"0000438099" "0" "33" "1" "160093942" "160093942" "subst" "0" "00753" "ATP1A2_000042" "g.160093942G>A" "0.32 in 50" "{PMID:Riant 2005:16088919}" "rs" "" "17846707" "Germline" "" "rs17846707" "0" "" "" "g.160124152G>A" "" "likely benign" ""
"0000438100" "0" "33" "1" "160097315" "160097315" "subst" "0.0932897" "00753" "ATP1A2_000043" "g.160097315C>A" "0.20 in 50" "{PMID:Riant 2005:16088919}" "rs" "" "2295623" "Germline" "" "rs2295623" "0" "" "" "g.160127525C>A" "" "likely benign" ""
"0000438101" "0" "33" "1" "160098543" "160098543" "subst" "0.19024" "00753" "ATP1A2_000044" "g.160098543G>A" "0.28 in 100" "{PMID:Riant 2005:16088919}" "rs" "" "1063125" "Germline" "" "rs1063125" "0" "" "" "g.160128753G>A" "" "likely benign" ""
"0000438102" "0" "33" "1" "160100264" "160100264" "subst" "0.0287585" "00753" "ATP1A2_000045" "g.160100264C>T" "0.04 in 100" "{PMID:Riant 2005:16088919}" "rs" "" "17846714" "Germline" "" "rs17846714" "0" "" "" "g.160130474C>T" "" "likely benign" ""
"0000438103" "0" "33" "1" "160098688" "160098688" "subst" "0.00649014" "00753" "ATP1A2_000046" "g.160098688G>A" "0.01 in 100" "{PMID:Riant 2005:16088919}" "" "" "" "Germline" "" "" "0" "" "" "g.160128898G>A" "" "likely benign" ""
"0000438104" "0" "33" "1" "160098930" "160098930" "del" "0" "00753" "ATP1A2_000047" "g.160098930del" "0.28 in 100" "{PMID:Riant 2005:16088919}" "rs" "c.1326+50delG" "17846711" "Germline" "" "rs17846711" "0" "" "" "g.160129140del" "" "likely benign" ""
"0000438105" "0" "33" "1" "160100201" "160100201" "subst" "0.0326412" "00753" "ATP1A2_000048" "g.160100201C>G" "0.11 in 100" "{PMID:Riant 2005:16088919}" "rs" "c.1462-11C>G" "17846713" "Germline" "" "rs17846713" "0" "" "" "g.160130411C>G" "" "likely benign" ""
"0000438106" "0" "33" "1" "160100239" "160100239" "subst" "4.06068E-6" "00753" "ATP1A2_000049" "g.160100239G>C" "0.01 in 100" "{PMID:Riant 2005:16088919}" "" "" "" "Germline" "" "" "0" "" "" "g.160130449G>C" "" "likely benign" ""
"0000438107" "0" "33" "1" "160104887" "160104910" "del" "0" "00753" "ATP1A2_000050" "g.160104887_160104910del" "0.02 in 50" "{PMID:Riant 2005:16088919}" "" "c.1965-48_-25del" "" "Germline" "" "" "0" "" "" "g.160135097_160135120del" "" "likely benign" ""
"0000438108" "0" "33" "1" "160105367" "160105367" "subst" "0.111779" "00753" "ATP1A2_000051" "g.160105367C>T" "0.12 in 50" "{PMID:Riant 2005:16088919}" "rs" "" "17846715" "Germline" "" "rs17846715" "0" "" "" "g.160135577C>T" "" "likely benign" ""
"0000438109" "0" "33" "1" "160106331" "160106331" "subst" "0" "00753" "ATP1A2_000052" "g.160106331T>C" "0.01 in 100" "{PMID:Riant 2005:16088919}" "" "" "" "Germline" "" "" "0" "" "" "g.160136541T>C" "" "likely benign" ""
"0000438110" "0" "33" "1" "160106531" "160106531" "subst" "0.0689385" "00753" "ATP1A2_000053" "g.160106531G>A" "0.16 in 100" "{PMID:Riant 2005:16088919}" "rs" "c.2706+26G>A" "12083034" "Germline" "" "rs12083034" "0" "" "" "g.160136741G>A" "" "likely benign" ""
"0000438111" "0" "33" "1" "160106857" "160106857" "subst" "0.0139655" "00753" "ATP1A2_000054" "g.160106857G>A" "0.06 in 50" "{PMID:Riant 2005:16088919}" "rs" "" "111331208" "Germline" "" "rs111331208" "0" "" "" "g.160137067G>A" "" "likely benign" ""
"0000438112" "0" "33" "1" "160109636" "160109636" "subst" "0.13136" "00753" "ATP1A2_000055" "g.160109636C>G" "0.22 in 100" "{PMID:Riant 2005:16088919}" "rs" "" "17846717\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs17846717" "0" "" "" "" "" "likely benign" ""
"0000438113" "0" "33" "1" "160109636" "160109636" "subst" "0.13136" "00753" "ATP1A2_000056" "g.160109636C>G" "0.22 in 100" "{PMID:Riant 2005:16088919}" "rs" "" "17846718\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs17846718" "0" "" "" "" "" "likely benign" ""
"0000438114" "0" "33" "1" "160109788" "160109788" "subst" "0.130973" "00753" "ATP1A2_000057" "g.160109788C>T" "0.22 in 100" "{PMID:Riant 2005:16088919}" "rs" "" "41288127" "Germline" "" "rs41288127" "0" "" "" "g.160139998C>T" "" "likely benign" ""
"0000438115" "0" "33" "1" "160109410" "160109410" "ins" "0" "00753" "ATP1A2_000058" "g.160109410dup" "0.22 in 100" "{PMID:Riant 2005:16088919}" "rs" "c.2841-20_-19insC" "17846716" "Germline" "" "rs17846716" "0" "" "" "g.160139620dup" "" "likely benign" ""
"0000438116" "0" "77" "1" "160093184" "160093184" "subst" "0" "00753" "ATP1A2_000059" "g.160093184A>C" "" "{PMID:de Vries 2007:18056581}" "" "nt463A>C" "not in 300 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160123394A>C" "" "likely pathogenic" ""
"0000438117" "21" "77" "1" "160099904" "160099904" "subst" "0.00042285" "00753" "ATP1A2_000060" "g.160099904G>A" "" "{PMID:de Vries 2007:18056581}" "" "nt1578G>A" "not in 300 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160130114G>A" "" "likely pathogenic" ""
"0000438118" "0" "77" "1" "160105701" "160105701" "subst" "0" "00753" "ATP1A2_000061" "g.160105701C>T" "" "{PMID:de Vries 2007:18056581}" "" "nt2604 C>T" "not in 300 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135911C>T" "" "likely pathogenic" ""
"0000438119" "21" "77" "1" "160106097" "160106097" "subst" "4.0618E-6" "00753" "ATP1A2_000062" "g.160106097C>T" "" "{PMID:de Vries 2007:18056581}" "" "nt2461C>T" "not in 300 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160136307C>T" "" "likely pathogenic" ""
"0000438120" "0" "77" "1" "160106704" "160106704" "subst" "0" "00753" "ATP1A2_000063" "g.160106704G>A" "" "{PMID:de Vries 2007:18056581}" "" "c.2827G>A" "not in 300 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160136914G>A" "" "likely pathogenic" ""
"0000438121" "0" "77" "1" "160105259" "160105259" "subst" "0" "00753" "ATP1A2_000064" "g.160105259C>R" "" "{PMID:Jen 2007:17435187}" "" "c.2151C>A/G" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160135469C>R" "" "likely pathogenic" ""
"0000438122" "11" "77" "1" "160109745" "160109745" "subst" "0" "00753" "ATP1A2_000065" "g.160109745G>A" "" "{PMID:Jen 2007:17435187}" "" "" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160139955G>A" "" "likely pathogenic" ""
"0000438123" "21" "31" "1" "160090708" "160090708" "subst" "0.00168136" "00753" "ATP1A2_000066" "g.160090708T>A" "" "{PMID:Thomsen 2008:18513263}" "" "" "not in 184 controls" "Germline" "" "" "0" "" "" "g.160120918T>A" "" "likely benign" ""
"0000438124" "0" "55" "1" "160090708" "160090708" "subst" "0.00168136" "00753" "ATP1A2_000066" "g.160090708T>A" "" "{PMID:Tonelli 2007:17877748}" "" "" "not in 400 controls" "Germline" "" "" "0" "" "" "g.160120918T>A" "" "VUS" ""
"0000438125" "21" "75" "1" "160105343" "160105343" "subst" "0" "00753" "ATP1A2_000067" "g.160105343G>A" "" "{PMID:Thomsen 2008:18513263}" "" "" "not in 184 controls" "Germline" "" "" "0" "" "" "g.160135553G>A" "" "likely pathogenic" ""
"0000438126" "21" "31" "1" "160106432" "160106432" "subst" "6.49931E-5" "00753" "ATP1A2_000068" "g.160106432G>A" "" "{PMID:Thomsen 2008:18513263}" "" "" "not in 184 controls" "Germline" "" "" "0" "" "" "g.160136642G>A" "" "likely benign" ""
"0000438127" "10" "77" "1" "160100073" "160100073" "subst" "4.06441E-6" "00753" "ATP1A2_000069" "g.160100073G>A" "" "{PMID:Ambrosini 2005:16344534}" "NlaIII+" "" "not in 400 healthy/174 migraine cases" "Germline" "" "" "0" "" "" "g.160130283G>A" "" "likely pathogenic" ""
"0000438128" "10" "77" "1" "160100073" "160100073" "subst" "4.06441E-6" "00753" "ATP1A2_000069" "g.160100073G>A" "" "{PMID:Ambrosini 2005:16344534}" "NlaIII+" "" "not in 400 healthy/174 migraine cases" "Germline" "" "" "0" "" "" "g.160130283G>A" "" "likely pathogenic" ""
"0000438129" "11" "77" "1" "160100073" "160100073" "subst" "4.06441E-6" "00753" "ATP1A2_000069" "g.160100073G>A" "" "{PMID:Ambrosini 2005:16344534}" "NlaIII+" "" "not in 400 healthy/174 migraine cases" "Germline" "" "" "0" "" "" "g.160130283G>A" "" "likely pathogenic" ""
"0000438130" "11" "77" "1" "160100073" "160100073" "subst" "4.06441E-6" "00753" "ATP1A2_000069" "g.160100073G>A" "" "{PMID:Ambrosini 2005:16344534}" "NlaIII+" "" "not in 400 healthy/174 migraine cases" "Germline" "" "" "0" "" "" "g.160130283G>A" "" "likely pathogenic" ""
"0000438131" "0" "31" "1" "160106431" "160106431" "subst" "1.62479E-5" "00753" "ATP1A2_000070" "g.160106431C>T" "" "{PMID:Thomsen 2008:18513263}" "" "" "not in 184 controls" "Germline" "" "" "0" "" "" "g.160136641C>T" "" "likely benign" ""
"0000438132" "0" "77" "1" "160109767" "160109767" "subst" "0" "00753" "ATP1A2_000071" "g.160109767T>A" "" "{PMID:Gallanti 2008:18644608}" "" "" "not in 400 controls" "Germline" "" "" "0" "" "" "g.160139977T>A" "" "likely pathogenic" ""
"0000438133" "0" "77" "1" "160106160" "160106160" "subst" "0" "00753" "ATP1A2_000072" "g.160106160G>A" "" "{PMID:de Vries 2009:19874388}" "" "" "not in 300 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160136370G>A" "" "likely pathogenic" ""
"0000438134" "21" "77" "1" "160106160" "160106160" "subst" "0" "00753" "ATP1A2_000072" "g.160106160G>A" "" "{PMID:de Vries 2009:19874388}" "" "" "not in 300 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160136370G>A" "" "likely pathogenic" ""
"0000438135" "21" "77" "1" "160106160" "160106160" "subst" "0" "00753" "ATP1A2_000072" "g.160106160G>A" "" "{PMID:de Vries 2009:19874388}" "" "" "not in 300 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.160136370G>A" "" "likely pathogenic" ""
"0000438136" "0" "77" "1" "160098457" "160098457" "subst" "0" "00753" "ATP1A2_000005" "g.160098457A>G" "" "{PMID:Segall 2004:15308625}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.160128667A>G" "" "NA" ""
"0000438137" "0" "55" "1" "160098797" "160098797" "subst" "1.26883E-5" "00753" "ATP1A2_000009" "g.160098797C>T" "" "{PMID:Vanmolkot 2007:17473835}" "" "1348C>T" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.160129007C>T" "" "NA" ""
"0000438138" "0" "77" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Capendeguy 2004:15970628}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.160135246G>A" "" "NA" ""
"0000438139" "0" "55" "1" "160105036" "160105036" "subst" "0" "00753" "ATP1A2_000015" "g.160105036G>A" "" "{PMID:Segall 2004:15308625}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.160135246G>A" "" "NA" ""
"0000438140" "0" "55" "1" "160105300" "160105300" "subst" "0" "00753" "ATP1A2_000018" "g.160105300T>C" "" "{PMID:Segall 2004:15308625}" "NcoI-" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.160135510T>C" "" "NA" ""
"0000438141" "0" "55" "1" "160105300" "160105300" "subst" "0" "00753" "ATP1A2_000018" "g.160105300T>C" "" "{PMID:Capendeguy 2004:15970628}" "NcoI-" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.160135510T>C" "" "NA" ""
"0000438142" "0" "77" "1" "160105635" "160105635" "subst" "0" "00753" "ATP1A2_000020" "g.160105635T>C" "" "{PMID:Capendeguy 2004:15970628}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.160135845T>C" "" "NA" ""
"0000438143" "0" "55" "1" "160105635" "160105635" "subst" "0" "00753" "ATP1A2_000020" "g.160105635T>C" "" "{PMID:Koenderink 2005:15843000}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.160135845T>C" "" "NA" ""
"0000438144" "0" "55" "1" "160106455" "160106455" "subst" "0" "00753" "ATP1A2_000024" "g.160106455T>C" "" "{PMID:Capendeguy 2004:15970628}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.160136665T>C" "" "NA" ""
"0000438838" "0" "50" "1" "160104385" "160104385" "subst" "3.6547E-5" "01164" "ATP1A2_000140" "g.160104385A>G" "" "" "" "" "" "Germline" "" "rs779611112" "0" "" "" "g.160134595A>G" "" "VUS" "ACMG"
"0000440131" "0" "50" "1" "160105381" "160105381" "subst" "0.000296567" "01164" "ATP1A2_000141" "g.160105381G>C" "" "" "" "" "ACMG grading: BS1,PP3; reported in Aceves 2013. Case Rep Neurol Med 2013: 895057" "Germline" "" "rs147183887" "0" "" "" "g.160135591G>C" "" "VUS" "ACMG"
"0000440132" "0" "70" "1" "160106703" "160106703" "subst" "0" "01164" "ATP1A2_000142" "g.160106703C>T" "" "" "" "" "ACMG grading: PM5,PM2,PP1,PP3; reported in Tavraz 2009. Channels 3: 82; Roth 2014. Cemphalalgia 34: 183" "Germline" "" "" "0" "" "" "g.160136913C>T" "" "likely pathogenic" "ACMG"
"0000503925" "0" "10" "1" "160090684" "160090686" "del" "0" "02326" "ATP1A2_000143" "g.160090684_160090686del" "" "" "" "ATP1A2(NM_000702.2):c.13-12_13-10delTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160120894_160120896del" "" "benign" ""
"0000503926" "0" "30" "1" "160090708" "160090708" "subst" "0.00168136" "02325" "ATP1A2_000066" "g.160090708T>A" "" "" "" "ATP1A2(NM_000702.2):c.25T>A (p.Y9N), ATP1A2(NM_000702.3):c.25T>A (p.(Tyr9Asn)), ATP1A2(NM_000702.4):c.25T>A (p.Y9N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160120918T>A" "" "likely benign" ""
"0000503927" "0" "30" "1" "160090720" "160090720" "subst" "0" "02327" "ATP1A2_000144" "g.160090720G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160120930G>A" "" "likely benign" ""
"0000503929" "0" "50" "1" "160098515" "160098515" "subst" "0" "01943" "ATP1A2_000134" "g.160098515C>T" "" "" "" "ATP1A2(NM_000702.2):c.1091C>T (p.T364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160128725C>T" "" "VUS" ""
"0000503931" "0" "50" "1" "160098871" "160098871" "subst" "1.62916E-5" "02327" "ATP1A2_000147" "g.160098871G>A" "" "" "" "ATP1A2(NM_000702.2):c.1318G>A (p.V440M), ATP1A2(NM_000702.4):c.1318G>A (p.V440M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160129081G>A" "" "VUS" ""
"0000503932" "0" "50" "1" "160098871" "160098871" "subst" "1.62916E-5" "02326" "ATP1A2_000147" "g.160098871G>A" "" "" "" "ATP1A2(NM_000702.2):c.1318G>A (p.V440M), ATP1A2(NM_000702.4):c.1318G>A (p.V440M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160129081G>A" "" "VUS" ""
"0000503933" "0" "50" "1" "160099904" "160099904" "subst" "0.00042285" "01943" "ATP1A2_000060" "g.160099904G>A" "" "" "" "ATP1A2(NM_000702.2):c.1474G>A (p.E492K), ATP1A2(NM_000702.4):c.1474G>A (p.(Glu492Lys), p.E492K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160130114G>A" "" "VUS" ""
"0000503934" "0" "30" "1" "160100270" "160100270" "subst" "2.43647E-5" "01943" "ATP1A2_000148" "g.160100270G>A" "" "" "" "ATP1A2(NM_000702.2):c.1710G>A (p.T570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160130480G>A" "" "likely benign" ""
"0000503935" "0" "90" "1" "160100337" "160100337" "subst" "0" "02327" "ATP1A2_000011" "g.160100337C>T" "" "" "" "ATP1A2(NM_000702.2):c.1777C>T (p.R593W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160130547C>T" "" "pathogenic" ""
"0000503936" "0" "50" "1" "160105381" "160105381" "subst" "0.000296567" "02325" "ATP1A2_000141" "g.160105381G>C" "" "" "" "ATP1A2(NM_000702.4):c.2273G>C (p.G758A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160135591G>C" "" "VUS" ""
"0000503937" "0" "30" "1" "160106111" "160106111" "subst" "9.74881E-5" "01943" "ATP1A2_000149" "g.160106111G>A" "" "" "" "ATP1A2(NM_000702.2):c.2514G>A (p.T838=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160136321G>A" "" "likely benign" ""
"0000503938" "0" "90" "1" "160106160" "160106160" "subst" "0" "01804" "ATP1A2_000072" "g.160106160G>A" "" "" "" "ATP1A2(NM_000702.3):c.2563G>A (p.(Gly855Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160136370G>A" "" "pathogenic" ""
"0000503940" "0" "30" "1" "160106516" "160106516" "subst" "0.000162537" "02326" "ATP1A2_000150" "g.160106516C>T" "" "" "" "ATP1A2(NM_000702.2):c.2709+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160136726C>T" "" "likely benign" ""
"0000503941" "0" "10" "1" "160109668" "160109668" "subst" "0.00465608" "02327" "ATP1A2_000099" "g.160109668C>T" "" "" "" "ATP1A2(NM_000702.2):c.2943-15C>T, ATP1A2(NM_000702.3):c.2943-15C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160139878C>T" "" "benign" ""
"0000604931" "0" "30" "1" "160094179" "160094179" "subst" "1.65012E-5" "02326" "ATP1A2_000151" "g.160094179G>A" "" "" "" "ATP1A2(NM_000702.2):c.589G>A (p.V197I), ATP1A2(NM_000702.3):c.589G>A (p.(Val197Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160124389G>A" "" "likely benign" ""
"0000604932" "0" "50" "1" "160095008" "160095008" "subst" "0" "01943" "ATP1A2_000152" "g.160095008G>A" "" "" "" "ATP1A2(NM_000702.2):c.713G>A (p.R238H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160125218G>A" "" "VUS" ""
"0000604933" "0" "50" "1" "160098871" "160098871" "subst" "1.62916E-5" "01943" "ATP1A2_000147" "g.160098871G>A" "" "" "" "ATP1A2(NM_000702.2):c.1318G>A (p.V440M), ATP1A2(NM_000702.4):c.1318G>A (p.V440M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160129081G>A" "" "VUS" ""
"0000604934" "0" "30" "1" "160104997" "160104997" "subst" "0" "02327" "ATP1A2_000153" "g.160104997A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160135207A>T" "" "likely benign" ""
"0000604935" "0" "30" "1" "160109526" "160109526" "subst" "2.03214E-5" "01943" "ATP1A2_000154" "g.160109526G>T" "" "" "" "ATP1A2(NM_000702.2):c.2937G>T (p.P979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160139736G>T" "" "likely benign" ""
"0000647417" "1" "70" "1" "160098572" "160098572" "subst" "0" "03575" "ATP1A2_000008" "g.160098572G>A" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs765909830}" "Germline" "" "rs765909830" "0" "" "" "g.160128782G>A" "" "likely pathogenic" ""
"0000653790" "0" "30" "1" "160106732" "160106732" "subst" "0.000828669" "01943" "ATP1A2_000126" "g.160106732G>A" "" "" "" "ATP1A2(NM_000702.2):c.2751G>A (p.T917=), ATP1A2(NM_000702.3):c.2751G>A (p.(Thr917=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160136942G>A" "" "likely benign" ""
"0000668970" "3" "30" "1" "160100264" "160100264" "subst" "0.0287585" "03575" "ATP1A2_000045" "g.160100264C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs17846714}" "Germline" "" "rs17846714" "0" "" "" "g.160130474C>T" "" "likely benign" ""
"0000670376" "0" "90" "1" "160109553" "160109835" "del" "0" "01741" "ATP1A2_000155" "g.160109553_160109835del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000675517" "0" "30" "1" "160105790" "160105790" "subst" "1.22038E-5" "02326" "ATP1A2_000156" "g.160105790G>A" "" "" "" "ATP1A2(NM_000702.2):c.2439+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000687912" "0" "50" "1" "160095008" "160095008" "subst" "0" "02327" "ATP1A2_000152" "g.160095008G>A" "" "" "" "ATP1A2(NM_000702.2):c.713G>A (p.R238H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000687913" "0" "50" "1" "160097455" "160097455" "subst" "7.71624E-5" "01943" "ATP1A2_000112" "g.160097455C>T" "" "" "" "ATP1A2(NM_000702.2):c.862C>T (p.H288Y), ATP1A2(NM_000702.3):c.862C>T (p.(His288Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000716926" "0" "50" "1" "160091016" "160091016" "subst" "0.000113705" "01943" "ATP1A2_000157" "g.160091016G>A" "" "" "" "ATP1A2(NM_000702.2):c.152G>A (p.R51H), ATP1A2(NM_000702.3):c.152G>A (p.(Arg51His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000716927" "0" "50" "1" "160094176" "160094176" "subst" "1.64876E-5" "01943" "ATP1A2_000158" "g.160094176C>T" "" "" "" "ATP1A2(NM_000702.2):c.586C>T (p.R196C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000716928" "0" "30" "1" "160097580" "160097580" "subst" "6.19159E-5" "02326" "ATP1A2_000159" "g.160097580C>T" "" "" "" "ATP1A2(NM_000702.2):c.987C>T (p.N329=), ATP1A2(NM_000702.3):c.987C>T (p.(Asn329=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000716929" "0" "50" "1" "160100340" "160100340" "dup" "0" "01943" "ATP1A2_000160" "g.160100340dup" "" "" "" "ATP1A2(NM_000702.2):c.1780dupG (p.A594Gfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000716930" "0" "30" "1" "160105250" "160105250" "subst" "7.71611E-5" "02326" "ATP1A2_000161" "g.160105250C>T" "" "" "" "ATP1A2(NM_000702.2):c.2142C>T (p.D714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000716931" "0" "90" "1" "160106160" "160106160" "subst" "0" "02327" "ATP1A2_000072" "g.160106160G>A" "" "" "" "ATP1A2(NM_000702.3):c.2563G>A (p.(Gly855Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000716932" "0" "50" "1" "160106431" "160106431" "subst" "1.62479E-5" "02329" "ATP1A2_000070" "g.160106431C>T" "" "" "" "ATP1A2(NM_000702.2):c.2635C>T (p.R879W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000786759" "0" "70" "1" "160106704" "160106704" "subst" "0" "00006" "ATP1A2_000063" "g.160106704G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.160136914G>A" "" "likely pathogenic" ""
"0000798864" "0" "50" "1" "160099195" "160099195" "subst" "4.53739E-5" "01943" "ATP1A2_000162" "g.160099195G>A" "" "" "" "ATP1A2(NM_000702.2):c.1461+5G>A, ATP1A2(NM_000702.3):c.1461+5G>A (p.?), ATP1A2(NM_000702.4):c.1461+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000798865" "0" "50" "1" "160109479" "160109479" "subst" "0" "01943" "ATP1A2_000163" "g.160109479T>C" "" "" "" "ATP1A2(NM_000702.2):c.2890T>C (p.F964L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000848351" "0" "70" "1" "160094216" "160094216" "subst" "0" "02327" "ATP1A2_000165" "g.160094216G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000848352" "0" "70" "1" "160097590" "160097590" "subst" "0" "02327" "ATP1A2_000166" "g.160097590G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000848353" "0" "50" "1" "160100337" "160100337" "subst" "0" "01943" "ATP1A2_000011" "g.160100337C>T" "" "" "" "ATP1A2(NM_000702.2):c.1777C>T (p.R593W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857088" "0" "30" "1" "160090993" "160090993" "subst" "0.0017908" "01804" "ATP1A2_000107" "g.160090993G>A" "" "" "" "ATP1A2(NM_000702.2):c.129G>A (p.K43=), ATP1A2(NM_000702.3):c.129G>A (p.(Lys43=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857089" "0" "30" "1" "160091016" "160091016" "subst" "0.000113705" "01804" "ATP1A2_000157" "g.160091016G>A" "" "" "" "ATP1A2(NM_000702.2):c.152G>A (p.R51H), ATP1A2(NM_000702.3):c.152G>A (p.(Arg51His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857090" "0" "50" "1" "160093165" "160093165" "subst" "0.000775698" "01804" "ATP1A2_000164" "g.160093165G>A" "" "" "" "ATP1A2(NM_000702.3):c.340G>A (p.(Gly114Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857091" "0" "30" "1" "160094179" "160094179" "subst" "1.65012E-5" "01804" "ATP1A2_000151" "g.160094179G>A" "" "" "" "ATP1A2(NM_000702.2):c.589G>A (p.V197I), ATP1A2(NM_000702.3):c.589G>A (p.(Val197Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857092" "0" "30" "1" "160100201" "160100201" "subst" "0.0326412" "01804" "ATP1A2_000048" "g.160100201C>G" "" "" "" "ATP1A2(NM_000702.2):c.1652-11C>G, ATP1A2(NM_000702.3):c.1652-11C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857093" "0" "30" "1" "160100264" "160100264" "subst" "0.0287585" "01804" "ATP1A2_000045" "g.160100264C>T" "" "" "" "ATP1A2(NM_000702.2):c.1704C>T (p.F568=), ATP1A2(NM_000702.3):c.1704C>T (p.(Phe568=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857094" "0" "30" "1" "160104950" "160104950" "subst" "0.00508853" "01804" "ATP1A2_000167" "g.160104950C>T" "" "" "" "ATP1A2(NM_000702.3):c.1980C>T (p.(Cys660=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857095" "0" "90" "1" "160105632" "160105632" "subst" "4.06138E-6" "01804" "ATP1A2_000019" "g.160105632G>A" "" "" "" "ATP1A2(NM_000702.3):c.2288G>A (p.(Arg763His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000857096" "0" "30" "1" "160109701" "160109701" "subst" "0.00675643" "01804" "ATP1A2_000168" "g.160109701C>T" "" "" "" "ATP1A2(NM_000702.3):c.2961C>T (p.(Cys987=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000880111" "21" "70" "1" "160093165" "160093165" "subst" "0.000775698" "00006" "ATP1A2_000164" "g.160093165G>A" "" "{PMID:Schalk 2022:34930816}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000882862" "0" "30" "1" "160093209" "160093209" "subst" "0" "01804" "ATP1A2_000169" "g.160093209G>A" "" "" "" "ATP1A2(NM_000702.3):c.381+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000882863" "0" "50" "1" "160095043" "160095043" "subst" "0" "02325" "ATP1A2_000170" "g.160095043G>A" "" "" "" "ATP1A2(NM_000702.4):c.748G>A (p.G250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000882864" "0" "30" "1" "160097429" "160097429" "subst" "0.000113729" "01804" "ATP1A2_000171" "g.160097429G>A" "" "" "" "ATP1A2(NM_000702.3):c.836G>A (p.(Arg279Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000882865" "0" "50" "1" "160099904" "160099904" "subst" "0.00042285" "02325" "ATP1A2_000060" "g.160099904G>A" "" "" "" "ATP1A2(NM_000702.2):c.1474G>A (p.E492K), ATP1A2(NM_000702.4):c.1474G>A (p.(Glu492Lys), p.E492K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000882866" "0" "30" "1" "160109707" "160109707" "subst" "0.000536197" "01804" "ATP1A2_000172" "g.160109707C>T" "" "" "" "ATP1A2(NM_000702.3):c.2967C>T (p.(Phe989=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000910819" "0" "30" "1" "160105040" "160105040" "subst" "7.31273E-5" "02326" "ATP1A2_000173" "g.160105040G>A" "" "" "" "ATP1A2(NM_000702.2):c.2070G>A (p.T690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000910820" "0" "30" "1" "160106110" "160106110" "subst" "0" "01804" "ATP1A2_000174" "g.160106110C>T" "" "" "" "ATP1A2(NM_000702.3):c.2513C>T (p.(Thr838Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000910821" "0" "30" "1" "160106732" "160106732" "subst" "0.000828669" "01804" "ATP1A2_000126" "g.160106732G>A" "" "" "" "ATP1A2(NM_000702.2):c.2751G>A (p.T917=), ATP1A2(NM_000702.3):c.2751G>A (p.(Thr917=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000919543" "0" "50" "1" "160094128" "160094128" "subst" "0" "03779" "ATP1A2_000175" "g.160094128G>T" "" "" "" "" "" "Unknown" "" "rs1449406618" "0" "" "" "" "" "VUS" ""
"0000920851" "0" "50" "1" "160105362" "160105362" "subst" "0" "03779" "ATP1A2_000176" "g.160105362T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000922983" "0" "50" "1" "160093808" "160093808" "subst" "0" "01804" "ATP1A2_000177" "g.160093808T>C" "" "" "" "ATP1A2(NM_000702.3):c.457T>C (p.(Ser153Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000922984" "0" "30" "1" "160093857" "160093857" "subst" "8.12308E-6" "01804" "ATP1A2_000178" "g.160093857A>C" "" "" "" "ATP1A2(NM_000702.3):c.495+11A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000922985" "0" "50" "1" "160098871" "160098871" "subst" "1.62916E-5" "02325" "ATP1A2_000147" "g.160098871G>A" "" "" "" "ATP1A2(NM_000702.2):c.1318G>A (p.V440M), ATP1A2(NM_000702.4):c.1318G>A (p.V440M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000922986" "0" "70" "1" "160105036" "160105036" "subst" "0" "02327" "ATP1A2_000015" "g.160105036G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000922987" "0" "30" "1" "160109668" "160109668" "subst" "0.00465608" "01804" "ATP1A2_000099" "g.160109668C>T" "" "" "" "ATP1A2(NM_000702.2):c.2943-15C>T, ATP1A2(NM_000702.3):c.2943-15C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000927749" "0" "50" "1" "160106041" "160106041" "subst" "0" "03779" "ATP1A2_000179" "g.160106041C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000928047" "0" "90" "1" "160105632" "160105632" "subst" "4.06138E-6" "02327" "ATP1A2_000019" "g.160105632G>A" "" "" "" "ATP1A2(NM_000702.3):c.2288G>A (p.(Arg763His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000932988" "0" "70" "1" "160098572" "160098572" "subst" "0" "01164" "ATP1A2_000008" "g.160098572G>A" "" "PMID 16110494; PMID: 29486580" "" "" "ACMG: PM1, PP3_MOD, PS4_SUP, PM2_SUP, PP2" "Germline" "?" "" "" "" "" "g.160128782G>A" "VCV000204886.2" "likely pathogenic (dominant)" "ACMG"
"0000947017" "0" "50" "1" "160099195" "160099195" "subst" "4.53739E-5" "02325" "ATP1A2_000162" "g.160099195G>A" "" "" "" "ATP1A2(NM_000702.2):c.1461+5G>A, ATP1A2(NM_000702.3):c.1461+5G>A (p.?), ATP1A2(NM_000702.4):c.1461+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000947018" "0" "30" "1" "160100205" "160100205" "subst" "0.000353328" "01804" "ATP1A2_000120" "g.160100205C>A" "" "" "" "ATP1A2(NM_000702.2):c.1652-7C>A, ATP1A2(NM_000702.3):c.1652-7C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000947019" "0" "50" "1" "160105381" "160105381" "subst" "0" "02327" "ATP1A2_000180" "g.160105381G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973413" "0" "30" "1" "160097580" "160097580" "subst" "6.19159E-5" "01804" "ATP1A2_000159" "g.160097580C>T" "" "" "" "ATP1A2(NM_000702.2):c.987C>T (p.N329=), ATP1A2(NM_000702.3):c.987C>T (p.(Asn329=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000973414" "0" "50" "1" "160098580" "160098580" "subst" "3.24865E-5" "01804" "ATP1A2_000181" "g.160098580G>A" "" "" "" "ATP1A2(NM_000702.4):c.1156G>A (p.(Val386Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973415" "0" "50" "1" "160100061" "160100061" "subst" "0" "01804" "ATP1A2_000182" "g.160100061G>T" "" "" "" "ATP1A2(NM_000702.3):c.1631G>T (p.(Gly544Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973416" "0" "30" "1" "160104925" "160104925" "subst" "0" "01804" "ATP1A2_000183" "g.160104925C>T" "" "" "" "ATP1A2(NM_000702.4):c.1965-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000973417" "0" "50" "1" "160106143" "160106143" "subst" "2.43797E-5" "01804" "ATP1A2_000184" "g.160106143T>C" "" "" "" "ATP1A2(NM_000702.4):c.2546T>C (p.(Met849Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973418" "0" "30" "1" "160106824" "160106824" "subst" "0" "01804" "ATP1A2_000185" "g.160106824G>A" "" "" "" "ATP1A2(NM_000702.4):c.2840+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000985304" "0" "50" "1" "160093018" "160093018" "subst" "6.91591E-5" "03779" "ATP1A2_000001" "g.160093018C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs121918619" "0" "" "" "" "" "VUS" ""
"0000989363" "0" "50" "1" "160105090" "160105090" "subst" "0" "03779" "ATP1A2_000186" "g.160105090G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" ""
"0000990461" "0" "30" "1" "160090708" "160090708" "subst" "0.00168136" "01804" "ATP1A2_000066" "g.160090708T>A" "" "" "" "ATP1A2(NM_000702.2):c.25T>A (p.Y9N), ATP1A2(NM_000702.3):c.25T>A (p.(Tyr9Asn)), ATP1A2(NM_000702.4):c.25T>A (p.Y9N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000990462" "0" "50" "1" "160091015" "160091015" "subst" "0" "02327" "ATP1A2_000187" "g.160091015C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990463" "0" "30" "1" "160093180" "160093180" "subst" "4.06131E-6" "01804" "ATP1A2_000188" "g.160093180A>G" "" "" "" "ATP1A2(NM_000702.3):c.355A>G (p.(Met119Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000990464" "0" "90" "1" "160093184" "160093184" "subst" "0" "01804" "ATP1A2_000059" "g.160093184A>C" "" "" "" "ATP1A2(NM_000702.3):c.359A>C (p.(Glu120Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000990465" "0" "50" "1" "160097393" "160097393" "subst" "4.06567E-6" "01804" "ATP1A2_000189" "g.160097393G>A" "" "" "" "ATP1A2(NM_000702.3):c.800G>A (p.(Arg267His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990466" "0" "30" "1" "160099195" "160099195" "subst" "4.53739E-5" "01804" "ATP1A2_000162" "g.160099195G>A" "" "" "" "ATP1A2(NM_000702.2):c.1461+5G>A, ATP1A2(NM_000702.3):c.1461+5G>A (p.?), ATP1A2(NM_000702.4):c.1461+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000990467" "0" "30" "1" "160099922" "160099922" "subst" "0" "01804" "ATP1A2_000190" "g.160099922C>G" "" "" "" "ATP1A2(NM_000702.3):c.1492C>G (p.(Gln498Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000990468" "0" "50" "1" "160099922" "160099922" "del" "0" "01804" "ATP1A2_000191" "g.160099922del" "" "" "" "ATP1A2(NM_000702.3):c.1492delC (p.(Gln498fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990469" "0" "50" "1" "160104376" "160104376" "subst" "2.43649E-5" "01804" "ATP1A2_000192" "g.160104376C>T" "" "" "" "ATP1A2(NM_000702.3):c.1930C>T (p.(Arg644Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990470" "0" "30" "1" "160109765" "160109765" "subst" "1.62632E-5" "01804" "ATP1A2_000193" "g.160109765T>C" "" "" "" "ATP1A2(NM_000702.3):c.3025T>C (p.(Tyr1009His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001011144" "11" "90" "1" "160099908" "160099927" "del" "0" "00006" "ATP1A2_000194" "g.160099908_160099927del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "1478_1497del20" "" "Germline" "" "" "0" "" "" "g.160130118_160130137del" "" "likely pathogenic" ""
"0001013230" "0" "90" "1" "160097516" "160097516" "subst" "0" "02327" "ATP1A2_000195" "g.160097516C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001024049" "0" "10" "1" "160090708" "160090708" "subst" "0.00168136" "02326" "ATP1A2_000066" "g.160090708T>A" "" "" "" "ATP1A2(NM_000702.2):c.25T>A (p.Y9N), ATP1A2(NM_000702.3):c.25T>A (p.(Tyr9Asn)), ATP1A2(NM_000702.4):c.25T>A (p.Y9N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001024050" "0" "30" "1" "160100194" "160100194" "subst" "0.000284326" "01804" "ATP1A2_000196" "g.160100194C>A" "" "" "" "ATP1A2(NM_000702.3):c.1652-18C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001024051" "0" "50" "1" "160104377" "160104377" "subst" "2.03042E-5" "02325" "ATP1A2_000122" "g.160104377G>A" "" "" "" "ATP1A2(NM_000702.4):c.1931G>A (p.R644Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031393" "0" "30" "1" "160090727" "160090727" "subst" "4.72732E-5" "01804" "ATP1A2_000197" "g.160090727C>T" "" "" "" "ATP1A2(NM_000702.4):c.44C>T (p.(Thr15Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031394" "0" "50" "1" "160093115" "160093115" "subst" "0" "01804" "ATP1A2_000198" "g.160093115G>T" "" "" "" "ATP1A2(NM_000702.3):c.290G>T (p.(Gly97Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031395" "0" "30" "1" "160094631" "160094631" "subst" "0" "01804" "ATP1A2_000199" "g.160094631C>T" "" "" "" "ATP1A2(NM_000702.4):c.631-295C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031396" "0" "30" "1" "160098871" "160098871" "subst" "8.14578E-6" "01804" "ATP1A2_000200" "g.160098871G>T" "" "" "" "ATP1A2(NM_000702.3):c.1318G>T (p.(Val440Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031397" "0" "30" "1" "160099057" "160099057" "subst" "2.84278E-5" "01804" "ATP1A2_000201" "g.160099057G>A" "" "" "" "ATP1A2(NM_000702.4):c.1328G>A (p.(Arg443Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031398" "0" "30" "1" "160099904" "160099904" "subst" "0.00042285" "01804" "ATP1A2_000060" "g.160099904G>A" "" "" "" "ATP1A2(NM_000702.2):c.1474G>A (p.E492K), ATP1A2(NM_000702.4):c.1474G>A (p.(Glu492Lys), p.E492K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031399" "0" "70" "1" "160100073" "160100073" "subst" "4.06441E-6" "01804" "ATP1A2_000069" "g.160100073G>A" "" "" "" "ATP1A2(NM_000702.3):c.1643G>A (p.(Arg548His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001031400" "0" "30" "1" "160100295" "160100295" "subst" "5.27914E-5" "01804" "ATP1A2_000202" "g.160100295A>G" "" "" "" "ATP1A2(NM_000702.4):c.1735A>G (p.(Lys579Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001045606" "0" "30" "1" "160090703" "160090703" "subst" "0" "01804" "ATP1A2_000203" "g.160090703G>A" "" "" "" "ATP1A2(NM_000702.3):c.20G>A (p.(Arg7His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001045607" "0" "70" "1" "160104289" "160104289" "subst" "0" "02327" "ATP1A2_000013" "g.160104289G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes ATP1A2
## Count = 478
"{{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}}"
"0000062009" "00003059" "10" "5322" "0" "5322" "0" "c.*2259T>A" "r.(=)" "p.(=)" ""
"0000062010" "00003059" "10" "1216" "48" "1216" "48" "c.1216+48G>A" "r.(=)" "p.(=)" ""
"0000062011" "00003059" "90" "13" "-26" "13" "-26" "c.13-26T>C" "r.(=)" "p.(=)" ""
"0000062012" "00003059" "50" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Glu492Lys)" ""
"0000062013" "00003059" "90" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" ""
"0000062014" "00003059" "50" "1766" "0" "1766" "0" "c.1766T>C" "r.(?)" "p.(Ile589Thr)" ""
"0000062015" "00003059" "90" "2143" "0" "2143" "0" "c.2143G>A" "r.(?)" "p.(Gly715Arg)" ""
"0000062016" "00003059" "90" "2288" "0" "2288" "0" "c.2288G>T" "r.(?)" "p.(Arg763Leu)" ""
"0000062017" "00003059" "50" "2581" "0" "2581" "0" "c.2581G>C" "r.(?)" "p.(Gly861Arg)" ""
"0000062018" "00003059" "90" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Arg908Gln)" ""
"0000062019" "00003059" "50" "2782" "0" "2782" "0" "c.2782T>A" "r.(?)" "p.(Trp928Arg)" ""
"0000062020" "00003059" "10" "2840" "36" "2840" "36" "c.2840+36G>A" "r.(=)" "p.(=)" ""
"0000062021" "00003059" "10" "2841" "-20" "2841" "-20" "c.2841-20dup" "r.(=)" "p.(=)" ""
"0000062022" "00003059" "90" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Pro979Leu)" ""
"0000062023" "00003059" "50" "2943" "-15" "2943" "-15" "c.2943-15C>T" "r.(=)" "p.(=)" ""
"0000062024" "00003059" "90" "2998" "0" "2998" "0" "c.2998G>A" "r.(?)" "p.(Glu1000Lys)" ""
"0000062025" "00003059" "50" "3004" "0" "3004" "0" "c.3004C>G" "r.(?)" "p.(Arg1002Gly)" ""
"0000062026" "00003059" "10" "3034" "14" "3034" "14" "c.3034+14C>T" "r.(=)" "p.(=)" ""
"0000062027" "00003059" "10" "3034" "61" "3034" "61" "c.3034+61G>A" "r.(=)" "p.(=)" ""
"0000062028" "00003059" "90" "311" "0" "311" "0" "c.311T>C" "r.(?)" "p.(Ile104Thr)" ""
"0000062029" "00003059" "50" "381" "22" "381" "22" "c.381+22G>A" "r.(=)" "p.(=)" ""
"0000062030" "00003059" "10" "382" "-41" "382" "-41" "c.382-41G>T" "r.(=)" "p.(=)" ""
"0000062031" "00003059" "90" "464" "0" "472" "0" "c.464_472dup" "r.(?)" "p.(Asp157_Ser158insPheMetAsp)" ""
"0000062032" "00003059" "90" "659" "0" "659" "0" "c.659C>T" "r.(?)" "p.(Ser220Leu)" ""
"0000062033" "00003059" "50" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Ala283Val)" ""
"0000175074" "00003059" "70" "13" "-26" "13" "-26" "c.13-26T>C" "r.(?)" "p.(=)" ""
"0000175075" "00003059" "15" "13" "-22" "13" "-22" "c.13-22T>C" "r.(?)" "p.(=)" ""
"0000175076" "00003059" "15" "13" "-11" "13" "-8" "c.13-11_13-8del" "r.(?)" "p.(=)" "1i"
"0000175077" "00003059" "15" "381" "16" "381" "16" "c.381+16C>T" "r.(?)" "p.(=)" "4i"
"0000175078" "00003059" "15" "495" "65" "495" "65" "c.495+65T>C" "r.(?)" "p.(=)" "5i"
"0000175079" "00003059" "15" "495" "81" "495" "81" "c.495+81T>A" "r.(?)" "p.(=)" "5i"
"0000175080" "00003059" "15" "495" "96" "495" "96" "c.495+96G>A" "r.(?)" "p.(=)" "5i"
"0000175081" "00003059" "15" "749" "-27" "749" "-27" "c.749-27C>A" "r.(?)" "p.(=)" "7i"
"0000175082" "00003059" "15" "1017" "56" "1017" "56" "c.1017+56G>A" "r.(?)" "p.(=)" "8i"
"0000175083" "00003059" "15" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(=)" "9"
"0000175084" "00003059" "15" "1326" "49" "1326" "49" "c.1326+49dup" "r.(=)" "p.(=)" "10i"
"0000175085" "00003059" "15" "1652" "-11" "1652" "-11" "c.1652-11C>G" "r.(?)" "p.(=)" "12i"
"0000175086" "00003059" "15" "1704" "0" "1704" "0" "c.1704C>T" "r.(?)" "p.(=)" "13"
"0000175087" "00003059" "15" "2259" "0" "2259" "0" "c.2259C>T" "r.(?)" "p.(=)" "16"
"0000175088" "00003059" "15" "2709" "26" "2709" "26" "c.2709+26G>A" "r.(?)" "p.(=)" "19i"
"0000175089" "00003059" "15" "2943" "-47" "2943" "-47" "c.2943-47C>G" "r.(?)" "p.(=)" "21i"
"0000175090" "00003059" "15" "2943" "-27" "2943" "-27" "c.2943-27G>C" "r.(?)" "p.(=)" "21i"
"0000175091" "00003059" "33" "25" "0" "25" "0" "c.25T>A" "r.(?)" "p.Tyr9Asn" "2"
"0000175092" "00003059" "55" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.Arg65Trp" "3"
"0000175093" "00003059" "55" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.Met162Val" "5"
"0000175094" "00003059" "55" "485" "0" "485" "0" "c.485T>C" "r.(?)" "p.(Met162Thr)" "5"
"0000175095" "00003059" "55" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.Arg763Cys" "17"
"0000175096" "00003059" "75" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.Val138Ala" "5"
"0000175098" "00003059" "75" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.Arg383His" "9"
"0000175099" "00003059" "75" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.Arg548His" "12"
"0000175100" "00003059" "75" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.Glu700Lys" "15"
"0000175101" "00003059" "75" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.Arg763His" "17"
"0000175102" "00003059" "75" "2486" "0" "2486" "0" "c.2486T>G" "r.(?)" "p.Met829Arg" "18"
"0000175103" "00003059" "75" "2501" "0" "2501" "0" "c.2501G>A" "r.(?)" "p.Arg834Gln" "18"
"0000175104" "00003059" "75" "2704" "0" "2704" "0" "c.2704G>A" "r.(?)" "p.Glu902Lys" "19"
"0000175105" "00003059" "75" "2804" "0" "2820" "0" "c.2804_2820delinsTT" "r.(?)" "p.Lys935_Ser940delinsIle" "20"
"0000175106" "00003059" "75" "3061" "0" "3061" "0" "c.3061T>C" "r.(?)" "p.(*1021Arge*t*28)" "23"
"0000175107" "00003059" "77" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.Thr263Met" "8"
"0000175108" "00003059" "77" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.Arg548Cys" "12"
"0000175109" "00003059" "77" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Ala606Thr)" "13"
"0000175110" "00003059" "77" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.Asp718Asn" "16"
"0000175111" "00003059" "77" "2387" "0" "2387" "0" "c.2387C>G" "r.(?)" "p.Pro796Arg" "17"
"0000175112" "00003059" "77" "2810" "0" "2810" "0" "c.2810G>C" "r.(?)" "p.Arg937Pro" "20"
"0000175113" "00003059" "77" "2897" "0" "2898" "0" "c.2897_2898del" "r.(?)" "p.Ser966fs" "21"
"0000175114" "00003059" "77" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.Pro979Leu" "21"
"0000175115" "00003059" "79" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.Thr376Met" "9"
"0000175116" "00003059" "95" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.Arg202Gln" "6"
"0000175117" "00003059" "97" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.Gly301Arg" "8"
"0000175118" "00003059" "97" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.Gly900Arg" "19"
"0000175119" "00003059" "97" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.Asp999His" "22"
"0000175120" "00003059" "99" "359" "0" "359" "0" "c.359A>C" "r.(?)" "p.Glu120Ala" "4"
"0000175121" "00003059" "99" "858" "0" "858" "0" "c.858T>C" "r.(?)" "p.Ile286Thr" "8"
"0000175122" "00003059" "99" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.Thr345Ala" "9"
"0000175123" "00003059" "99" "1085" "0" "1085" "0" "c.1085T>A" "r.(?)" "p.Val362Glu" "9"
"0000175124" "00003059" "99" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.Thr376Met" "9"
"0000175125" "00003059" "99" "1133" "0" "1133" "0" "c.1133C>A" "r.(?)" "p.Thr378Asn" "9"
"0000175126" "00003059" "99" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.Thr415Met" "10"
"0000175127" "00003059" "99" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.Glu492Lys" "12"
"0000175128" "00003059" "99" "1778" "0" "1778" "0" "c.1778C>T" "r.(?)" "p.Arg593Trp" "13"
"0000175129" "00003059" "99" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Ala606Thr)" "13"
"0000175130" "00003059" "99" "1843" "0" "1843" "0" "c.1843G>A" "r.(?)" "p.Gly615Arg" "14"
"0000175131" "00003059" "99" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.Val628Met" "14"
"0000175132" "00003059" "99" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.Arg689Gln" "15"
"0000175133" "00003059" "99" "0" "0" "0" "0" "c.?" "r.(?)" "p.Asn717Lys" "16"
"0000175134" "00003059" "99" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.Met731Thr" "16"
"0000175135" "00003059" "99" "2291" "0" "2291" "0" "c.2291T>C" "r.(?)" "p.Leu764Pro" "17"
"0000175136" "00003059" "99" "2357" "0" "2357" "0" "c.2357C>T" "r.(?)" "p.Pro786Leu" "17"
"0000175137" "00003059" "99" "2386" "0" "2386" "0" "c.2386C>T" "r.(?)" "p.Pro796Ser" "17"
"0000175138" "00003059" "99" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.Arg834*" "18"
"0000175139" "00003059" "99" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.Gly855Arg" "18"
"0000175140" "00003059" "99" "2659" "0" "2659" "0" "c.2659T>C" "r.(?)" "p.Trp887Arg" "19"
"0000175141" "00003059" "99" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.Arg908Gln" "20"
"0000175142" "00003059" "99" "2782" "0" "2782" "0" "c.2782T>C" "r.(?)" "p.(Trp928Arg)" "20"
"0000175143" "00003059" "99" "3005" "0" "3005" "0" "c.3005G>A" "r.(?)" "p.Arg1002Gln" "22"
"0000251192" "00003059" "10" "3035" "-119" "3035" "-119" "c.3035-119A>G" "r.(=)" "p.(=)" ""
"0000252005" "00003059" "30" "1462" "-69" "1462" "-69" "c.1462-69A>G" "r.(=)" "p.(=)" ""
"0000259179" "00003059" "10" "13" "-11" "13" "-8" "c.13-11_13-8del" "r.(=)" "p.(=)" ""
"0000259180" "00003059" "30" "2841" "-20" "2841" "-20" "c.2841-20dup" "r.(=)" "p.(=)" ""
"0000259181" "00003059" "10" "381" "16" "381" "16" "c.381+16C>T" "r.(=)" "p.(=)" ""
"0000261171" "00003059" "30" "-48" "0" "-48" "0" "c.-48C>G" "r.(?)" "p.(=)" ""
"0000261172" "00003059" "30" "3125" "0" "3125" "0" "c.*62G>T" "r.(=)" "p.(=)" ""
"0000261173" "00003059" "10" "1216" "48" "1216" "48" "c.1216+48G>A" "r.(=)" "p.(=)" ""
"0000261174" "00003059" "10" "1216" "5" "1216" "5" "c.1216+5T>C" "r.spl?" "p.?" ""
"0000261175" "00003059" "10" "13" "-134" "13" "-134" "c.13-134C>T" "r.(=)" "p.(=)" ""
"0000261176" "00003059" "30" "13" "-14" "13" "-13" "c.13-14_13-13del" "r.(=)" "p.(=)" ""
"0000261177" "00003059" "30" "1320" "0" "1320" "0" "c.1320G>T" "r.(?)" "p.(Val440=)" ""
"0000261178" "00003059" "30" "1326" "67" "1326" "67" "c.1326+67C>T" "r.(=)" "p.(=)" ""
"0000261179" "00003059" "30" "1461" "115" "1461" "115" "c.1461+115C>T" "r.(=)" "p.(=)" ""
"0000261180" "00003059" "30" "1461" "91" "1461" "91" "c.1461+91G>C" "r.(=)" "p.(=)" ""
"0000261181" "00003059" "10" "1652" "-11" "1652" "-11" "c.1652-11C>G" "r.(=)" "p.(=)" ""
"0000261182" "00003059" "30" "1652" "-7" "1652" "-7" "c.1652-7C>A" "r.(=)" "p.(=)" ""
"0000261183" "00003059" "10" "1704" "0" "1704" "0" "c.1704C>T" "r.(?)" "p.(Phe568=)" ""
"0000261184" "00003059" "30" "177" "96" "177" "96" "c.177+96T>C" "r.(=)" "p.(=)" ""
"0000261185" "00003059" "10" "178" "-21" "178" "-21" "c.178-21C>T" "r.(=)" "p.(=)" ""
"0000261186" "00003059" "30" "1964" "81" "1964" "81" "c.1964+81T>A" "r.(=)" "p.(=)" ""
"0000261187" "00003059" "30" "2520" "0" "2520" "0" "c.2520G>A" "r.(?)" "p.(Lys840=)" ""
"0000261188" "00003059" "30" "2751" "0" "2751" "0" "c.2751G>A" "r.(?)" "p.(Thr917=)" ""
"0000261189" "00003059" "10" "2840" "36" "2840" "36" "c.2840+36G>A" "r.(=)" "p.(=)" ""
"0000261190" "00003059" "30" "2943" "-15" "2943" "-15" "c.2943-15C>T" "r.(=)" "p.(=)" ""
"0000261191" "00003059" "30" "3034" "144" "3034" "144" "c.3034+144G>A" "r.(=)" "p.(=)" ""
"0000261192" "00003059" "10" "382" "-41" "382" "-41" "c.382-41G>T" "r.(=)" "p.(=)" ""
"0000261193" "00003059" "30" "631" "-34" "631" "-34" "c.631-34C>G" "r.(=)" "p.(=)" ""
"0000263240" "00003059" "30" "1287" "0" "1287" "0" "c.1287C>T" "r.(?)" "p.(Ala429=)" ""
"0000263241" "00003059" "30" "129" "0" "129" "0" "c.129G>A" "r.(?)" "p.(Lys43=)" ""
"0000263242" "00003059" "30" "1652" "-7" "1652" "-7" "c.1652-7C>A" "r.(=)" "p.(=)" ""
"0000263243" "00003059" "30" "1652" "-7" "1652" "-7" "c.1652-7C>G" "r.(=)" "p.(=)" ""
"0000263244" "00003059" "50" "25" "0" "25" "0" "c.25T>A" "r.(?)" "p.(Tyr9Asn)" ""
"0000263245" "00003059" "70" "2620" "0" "2620" "0" "c.2620G>A" "r.(?)" "p.(Gly874Ser)" ""
"0000321081" "00003059" "50" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(His288Tyr)" ""
"0000337305" "00003059" "10" "381" "16" "381" "16" "c.381+16C>T" "r.(=)" "p.(=)" ""
"0000337306" "00003059" "10" "1652" "-11" "1652" "-11" "c.1652-11C>G" "r.(=)" "p.(=)" ""
"0000337307" "00003059" "10" "3034" "14" "3034" "14" "c.3034+14C>T" "r.(=)" "p.(=)" ""
"0000339178" "00003059" "50" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Val430Ile)" ""
"0000339502" "00003059" "10" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(Ser373=)" ""
"0000340886" "00003059" "10" "1704" "0" "1704" "0" "c.1704C>T" "r.(?)" "p.(Phe568=)" ""
"0000341420" "00003059" "90" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Ala387Thr)" ""
"0000341540" "00003059" "50" "1975" "0" "1975" "0" "c.1975G>T" "r.(?)" "p.(Ala659Ser)" ""
"0000341580" "00003059" "10" "2259" "0" "2259" "0" "c.2259C>T" "r.(?)" "p.(Ala753=)" ""
"0000341639" "00003059" "50" "2879" "0" "2879" "0" "c.2879C>T" "r.(?)" "p.(Ala960Val)" ""
"0000343406" "00003059" "50" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.(Arg834Ter)" ""
"0000344132" "00003059" "30" "1598" "0" "1598" "0" "c.1598A>T" "r.(?)" "p.(Asp533Val)" ""
"0000344173" "00003059" "30" "2026" "0" "2026" "0" "c.2026G>A" "r.(?)" "p.(Asp676Asn)" ""
"0000344233" "00003059" "50" "325" "0" "325" "0" "c.325T>C" "r.(?)" "p.(Cys109Arg)" ""
"0000347792" "00003059" "30" "795" "0" "795" "0" "c.795G>A" "r.(?)" "p.(Met265Ile)" ""
"0000349473" "00003059" "50" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Thr364Met)" ""
"0000350464" "00003059" "50" "892" "0" "892" "0" "c.892G>C" "r.(?)" "p.(Val298Leu)" ""
"0000437918" "00003059" "75" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Arg65Trp)" "4"
"0000437919" "00003059" "75" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Arg65Trp)" "4"
"0000437920" "00003059" "75" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Arg65Trp)" "4"
"0000437921" "00003059" "75" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Met)" "8"
"0000437922" "00003059" "55" "857" "0" "857" "0" "c.857T>C" "r.(?)" "p.(Ile286Thr)" "8"
"0000437923" "00003059" "55" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Arg)" "8"
"0000437924" "00003059" "55" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Arg)" "8"
"0000437925" "00003059" "55" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Arg)" "8"
"0000437926" "00003059" "55" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Arg)" "8"
"0000437927" "00003059" "55" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Arg)" "8"
"0000437928" "00003059" "55" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Arg)" "8"
"0000437929" "00003059" "55" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Arg)" "8"
"0000437930" "00003059" "55" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Arg)" "8"
"0000437931" "00003059" "55" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Arg)" "8"
"0000437932" "00003059" "77" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Thr345Ala)" "9"
"0000437933" "00003059" "55" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Thr345Ala)" "9"
"0000437934" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437935" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437936" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437937" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437938" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437939" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437940" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437941" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437942" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437943" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437944" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437945" "00003059" "77" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "9"
"0000437946" "00003059" "55" "1133" "0" "1133" "0" "c.1133C>A" "r.(?)" "p.(Thr378Asn)" "9"
"0000437947" "00003059" "55" "1133" "0" "1133" "0" "c.1133C>A" "r.(?)" "p.(Thr378Asn)" "9"
"0000437948" "00003059" "55" "1133" "0" "1133" "0" "c.1133C>A" "r.(?)" "p.(Thr378Asn)" "9"
"0000437949" "00003059" "55" "1133" "0" "1133" "0" "c.1133C>A" "r.(?)" "p.(Thr378Asn)" "9"
"0000437950" "00003059" "55" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383His)" "9"
"0000437951" "00003059" "55" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Thr415Met)" "10"
"0000437952" "00003059" "77" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Arg548Cys)" "12"
"0000437953" "00003059" "77" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Arg548Cys)" "12"
"0000437954" "00003059" "77" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Arg548Cys)" "12"
"0000437955" "00003059" "77" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Arg548Cys)" "12"
"0000437956" "00003059" "77" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Trp)" "13"
"0000437957" "00003059" "77" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Trp)" "13"
"0000437958" "00003059" "77" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Ala606Thr)" "13"
"0000437959" "00003059" "77" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Ala606Thr)" "13"
"0000437961" "00003059" "77" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Ala606Thr)" "13"
"0000437962" "00003059" "77" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Ala606Thr)" "13"
"0000437963" "00003059" "77" "1843" "0" "1843" "0" "c.1843G>A" "r.(?)" "p.(Gly615Arg)" "14"
"0000437964" "00003059" "77" "1843" "0" "1843" "0" "c.1843G>A" "r.(?)" "p.(Gly615Arg)" "14"
"0000437965" "00003059" "77" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Val628Met)" "14"
"0000437966" "00003059" "77" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Val628Met)" "14"
"0000437967" "00003059" "77" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Val628Met)" "14"
"0000437968" "00003059" "77" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Val628Met)" "14"
"0000437969" "00003059" "77" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Val628Met)" "14"
"0000437970" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437971" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437972" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437973" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437974" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437975" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437976" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437977" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437978" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437979" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437980" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437981" "00003059" "77" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437982" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437983" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437984" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437985" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437986" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437987" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437988" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "15"
"0000437989" "00003059" "77" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Glu700Lys)" "15"
"0000437990" "00003059" "77" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Glu700Lys)" "15"
"0000437991" "00003059" "77" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Glu700Lys)" "15"
"0000437992" "00003059" "55" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Asp718Asn)" "16"
"0000437993" "00003059" "55" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Asp718Asn)" "16"
"0000437994" "00003059" "55" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Asp718Asn)" "16"
"0000437995" "00003059" "55" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Asp718Asn)" "16"
"0000437996" "00003059" "55" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Asp718Asn)" "16"
"0000437997" "00003059" "55" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Asp718Asn)" "16"
"0000437998" "00003059" "55" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Asp718Asn)" "16"
"0000437999" "00003059" "77" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.(Met731Thr)" "16"
"0000438000" "00003059" "77" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.(Met731Thr)" "16"
"0000438001" "00003059" "77" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.(Met731Thr)" "16"
"0000438002" "00003059" "77" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.(Met731Thr)" "16"
"0000438003" "00003059" "55" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.(Met731Thr)" "16"
"0000438004" "00003059" "77" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.(Met731Thr)" "16"
"0000438005" "00003059" "55" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.(Met731Thr)" "16"
"0000438006" "00003059" "55" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.(Met731Thr)" "16"
"0000438007" "00003059" "55" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.(Met731Thr)" "16"
"0000438008" "00003059" "55" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Arg763His)" "17"
"0000438009" "00003059" "55" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Arg763His)" "17"
"0000438010" "00003059" "55" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Arg763His)" "17"
"0000438011" "00003059" "77" "2291" "0" "2291" "0" "c.2291T>C" "r.(?)" "p.(Leu764Pro)" "17"
"0000438012" "00003059" "55" "2291" "0" "2291" "0" "c.2291T>C" "r.(?)" "p.(Leu764Pro)" "17"
"0000438013" "00003059" "55" "2291" "0" "2291" "0" "c.2291T>C" "r.(?)" "p.(Leu764Pro)" "17"
"0000438014" "00003059" "55" "2291" "0" "2291" "0" "c.2291T>C" "r.(?)" "p.(Leu764Pro)" "17"
"0000438015" "00003059" "77" "2291" "0" "2291" "0" "c.2291T>C" "r.(?)" "p.(Leu764Pro)" "17"
"0000438016" "00003059" "55" "2291" "0" "2291" "0" "c.2291T>C" "r.(?)" "p.(Leu764Pro)" "17"
"0000438017" "00003059" "55" "2387" "0" "2387" "0" "c.2387C>G" "r.(?)" "p.(Pro796Arg)" "17"
"0000438018" "00003059" "77" "2486" "0" "2486" "0" "c.2486T>G" "r.(?)" "p.(Met829Arg)" "18"
"0000438019" "00003059" "75" "2501" "0" "2501" "0" "c.2501G>A" "r.(?)" "p.(Arg834Gln)" "18"
"0000438020" "00003059" "55" "2659" "0" "2659" "0" "c.2659T>C" "r.(?)" "p.(Trp887Arg)" "19"
"0000438021" "00003059" "55" "2659" "0" "2659" "0" "c.2659T>C" "r.(?)" "p.(Trp887Arg)" "19"
"0000438022" "00003059" "77" "2659" "0" "2659" "0" "c.2659T>C" "r.(?)" "p.(Trp887Arg)" "19"
"0000438023" "00003059" "55" "2704" "0" "2704" "0" "c.2704G>A" "r.(?)" "p.(Glu902Lys)" "19"
"0000438024" "00003059" "77" "2804" "0" "2820" "0" "c.2804_2820delinsTT" "r.(?)" "p.(Lys935_Ser940delinsIle)" "20"
"0000438025" "00003059" "77" "2810" "0" "2810" "0" "c.2810G>C" "r.(?)" "p.(Arg937Pro)" "20"
"0000438026" "00003059" "77" "2897" "0" "2898" "0" "c.2897_2898del" "r.(?)" "p.(Ser966Leufs*33)" "21"
"0000438027" "00003059" "55" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Pro979Leu)" "21"
"0000438028" "00003059" "55" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Pro979Leu)" "21"
"0000438029" "00003059" "55" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Pro979Leu)" "21"
"0000438030" "00003059" "55" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Pro979Leu)" "21"
"0000438031" "00003059" "55" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Pro979Leu)" "21"
"0000438032" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438033" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438034" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438035" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438036" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438037" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438038" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438039" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438040" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438041" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438042" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438043" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438044" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438045" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438046" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438047" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438048" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438049" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438050" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438051" "00003059" "77" "2995" "0" "2995" "0" "c.2995G>C" "r.(?)" "p.(Asp999His)" "22"
"0000438052" "00003059" "55" "3061" "0" "3061" "0" "c.3061T>C" "r.(?)" "p.(*1021Argext*?)" "23"
"0000438053" "00003059" "55" "3061" "0" "3061" "0" "c.3061T>C" "r.(?)" "p.(*1021Argext*?)" "23"
"0000438054" "00003059" "97" "1085" "0" "1085" "0" "c.1085T>A" "r.(?)" "p.(Val362Glu)" "9"
"0000438055" "00003059" "97" "1085" "0" "1085" "0" "c.1085T>A" "r.(?)" "p.(Val362Glu)" "9"
"0000438056" "00003059" "75" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Val138Ala)" "5"
"0000438057" "00003059" "75" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Val138Ala)" "5"
"0000438058" "00003059" "75" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Val138Ala)" "5"
"0000438059" "00003059" "75" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Val138Ala)" "5"
"0000438060" "00003059" "75" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Val138Ala)" "5"
"0000438061" "00003059" "75" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "6"
"0000438062" "00003059" "75" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "6"
"0000438063" "00003059" "75" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "6"
"0000438064" "00003059" "75" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "6"
"0000438065" "00003059" "75" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "6"
"0000438066" "00003059" "75" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "6"
"0000438067" "00003059" "75" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "6"
"0000438068" "00003059" "75" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "6"
"0000438069" "00003059" "75" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "6"
"0000438070" "00003059" "75" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "6"
"0000438071" "00003059" "75" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "6"
"0000438072" "00003059" "75" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Arg763Cys)" "17"
"0000438073" "00003059" "75" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Arg763Cys)" "17"
"0000438074" "00003059" "75" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Arg763Cys)" "17"
"0000438075" "00003059" "75" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Arg763Cys)" "17"
"0000438076" "00003059" "97" "2386" "0" "2386" "0" "c.2386C>T" "r.(?)" "p.(Pro796Ser)" "17"
"0000438077" "00003059" "97" "2386" "0" "2386" "0" "c.2386C>T" "r.(?)" "p.(Pro796Ser)" "17"
"0000438078" "00003059" "97" "2386" "0" "2386" "0" "c.2386C>T" "r.(?)" "p.(Pro796Ser)" "17"
"0000438079" "00003059" "33" "13" "-11" "13" "-8" "c.13-11_13-8dup" "r.(=)" "p.(=)" "1i"
"0000438080" "00003059" "33" "495" "65" "495" "65" "c.495+65C>T" "r.(?)" "p.(=)" "5i"
"0000438081" "00003059" "33" "495" "81" "495" "81" "c.495+81T>A" "r.(?)" "p.(=)" "5i"
"0000438082" "00003059" "55" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Cys702Tyr)" "15"
"0000438083" "00003059" "55" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Cys702Tyr)" "15"
"0000438084" "00003059" "55" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Cys702Tyr)" "15"
"0000438085" "00003059" "55" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Cys702Tyr)" "15"
"0000438086" "00003059" "55" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Cys702Tyr)" "15"
"0000438087" "00003059" "55" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Cys702Tyr)" "15"
"0000438088" "00003059" "77" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.(Gly900Arg)" "19"
"0000438089" "00003059" "77" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.(Gly900Arg)" "19"
"0000438090" "00003059" "77" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.(Gly900Arg)" "19"
"0000438091" "00003059" "77" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.(Gly900Arg)" "19"
"0000438092" "00003059" "77" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.(Gly900Arg)" "19"
"0000438093" "00003059" "77" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.(Gly900Arg)" "19"
"0000438094" "00003059" "77" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.(Gly900Arg)" "19"
"0000438095" "00003059" "77" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.(Gly900Arg)" "19"
"0000438096" "00003059" "77" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.(Gly900Arg)" "19"
"0000438097" "00003059" "77" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.(Gly900Arg)" "19"
"0000438098" "00003059" "77" "2698" "0" "2698" "0" "c.2698G>C" "r.(?)" "p.(Gly900Arg)" "19"
"0000438099" "00003059" "33" "495" "96" "495" "96" "c.495+96G>A" "r.(?)" "p.(=)" "5i"
"0000438100" "00003059" "33" "749" "-27" "749" "-27" "c.749-27C>A" "r.(?)" "p.(=)" "7i"
"0000438101" "00003059" "33" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(=)" "9"
"0000438102" "00003059" "33" "1704" "0" "1704" "0" "c.1704C>T" "r.(?)" "p.(=)" "13"
"0000438103" "00003059" "33" "1216" "48" "1216" "48" "c.1216+48G>A" "r.(?)" "p.(=)" "9i"
"0000438104" "00003059" "33" "1326" "51" "1326" "51" "c.1326+51del" "r.(=)" "p.(=)" "10i"
"0000438105" "00003059" "33" "1652" "-11" "1652" "-11" "c.1652-11C>G" "r.(?)" "p.(=)" "12i"
"0000438106" "00003059" "33" "1679" "0" "1679" "0" "c.1679G>C" "r.(?)" "p.(Gly560Ala)" "13"
"0000438107" "00003059" "33" "1965" "-48" "1965" "-25" "c.1965-48_1965-25del" "r.(?)" "p.(=)" "14i"
"0000438108" "00003059" "33" "2259" "0" "2259" "0" "c.2259C>T" "r.(?)" "p.(=)" "16"
"0000438109" "00003059" "33" "2564" "-29" "2564" "-29" "c.2564-29T>C" "r.(?)" "p.(=)" "18i"
"0000438110" "00003059" "33" "2709" "26" "2709" "26" "c.2709+26G>A" "r.(?)" "p.(=)" "19i"
"0000438111" "00003059" "33" "2840" "36" "2840" "36" "c.2840+36G>A" "r.(?)" "p.(=)" "20i"
"0000438112" "00003059" "33" "2943" "-47" "2943" "-47" "c.2943-47G>C" "r.(?)" "p.(=)" "21i"
"0000438113" "00003059" "33" "2943" "-27" "2943" "-27" "c.2943-27C>G" "r.(?)" "p.(=)" "21i"
"0000438114" "00003059" "33" "3034" "14" "3034" "14" "c.3034+14C>T" "r.(?)" "p.(=)" "22i"
"0000438115" "00003059" "33" "2841" "-20" "2841" "-20" "c.2841-20dup" "r.(=)" "p.(=)" "20i"
"0000438116" "00003059" "77" "359" "0" "359" "0" "c.359A>C" "r.(?)" "p.(Glu120Ala)" "4"
"0000438117" "00003059" "77" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Glu492Lys)" "12"
"0000438118" "00003059" "77" "2357" "0" "2357" "0" "c.2357C>T" "r.(?)" "p.(Pro786Leu)" "17"
"0000438119" "00003059" "77" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.(Arg834*)" "18"
"0000438120" "00003059" "77" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Arg908Gln)" "20"
"0000438121" "00003059" "77" "2151" "0" "2151" "0" "c.2151C>R" "r.(?)" "p.(Asn717Lys)" "16"
"0000438122" "00003059" "77" "3005" "0" "3005" "0" "c.3005G>A" "r.(?)" "p.(Arg1002Gln)" "22"
"0000438123" "00003059" "31" "25" "0" "25" "0" "c.25T>A" "r.(?)" "p.(Tyr9Asn)" "2"
"0000438124" "00003059" "55" "25" "0" "25" "0" "c.25T>A" "r.(?)" "p.(Tyr9Asn)" "2"
"0000438125" "00003059" "75" "2235" "0" "2235" "0" "c.2235G>A" "r.(?)" "p.(Met745Ile)" "16"
"0000438126" "00003059" "31" "2636" "0" "2636" "0" "c.2636G>A" "r.(?)" "p.(Arg879Gln)" "19"
"0000438127" "00003059" "77" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "12"
"0000438128" "00003059" "77" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "12"
"0000438129" "00003059" "77" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "12"
"0000438130" "00003059" "77" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "12"
"0000438131" "00003059" "31" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879Trp)" "19"
"0000438132" "00003059" "77" "3027" "0" "3027" "0" "c.3027T>A" "r.(?)" "p.(Tyr1009*)" "22"
"0000438133" "00003059" "77" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Gly855Arg)" "18"
"0000438134" "00003059" "77" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Gly855Arg)" "18"
"0000438135" "00003059" "77" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Gly855Arg)" "18"
"0000438136" "00003059" "77" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.Thr345Ala" "9"
"0000438137" "00003059" "55" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.Thr415Met" "10"
"0000438138" "00003059" "77" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.Arg689Gln" "15"
"0000438139" "00003059" "55" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.Arg689Gln" "15"
"0000438140" "00003059" "55" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.Met731Thr" "16"
"0000438141" "00003059" "55" "2192" "0" "2192" "0" "c.2192T>C" "r.(?)" "p.Met731Thr" "16"
"0000438142" "00003059" "77" "2291" "0" "2291" "0" "c.2291T>C" "r.(?)" "p.Leu764Pro" "17"
"0000438143" "00003059" "55" "2291" "0" "2291" "0" "c.2291T>C" "r.(?)" "p.Leu764Pro" "17"
"0000438144" "00003059" "55" "2659" "0" "2659" "0" "c.2659T>C" "r.(?)" "p.Trp887Arg" "19"
"0000438838" "00003059" "50" "1939" "0" "1939" "0" "c.1939A>G" "r.(?)" "p.Ile647Val" ""
"0000440131" "00003059" "50" "2273" "0" "2273" "0" "c.2273G>C" "r.(?)" "p.Gly758Ala" ""
"0000440132" "00003059" "70" "2722" "0" "2722" "0" "c.2722C>T" "r.(?)" "p.Arg908Trp" ""
"0000503925" "00003059" "10" "13" "-12" "13" "-10" "c.13-12_13-10del" "r.(=)" "p.(=)" ""
"0000503926" "00003059" "30" "25" "0" "25" "0" "c.25T>A" "r.(?)" "p.(Tyr9Asn)" ""
"0000503927" "00003059" "30" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" ""
"0000503929" "00003059" "50" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Thr364Met)" ""
"0000503931" "00003059" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Val440Met)" ""
"0000503932" "00003059" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Val440Met)" ""
"0000503933" "00003059" "50" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Glu492Lys)" ""
"0000503934" "00003059" "30" "1710" "0" "1710" "0" "c.1710G>A" "r.(?)" "p.(Thr570=)" ""
"0000503935" "00003059" "90" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Trp)" ""
"0000503936" "00003059" "50" "2273" "0" "2273" "0" "c.2273G>C" "r.(?)" "p.(Gly758Ala)" ""
"0000503937" "00003059" "30" "2514" "0" "2514" "0" "c.2514G>A" "r.(?)" "p.(Thr838=)" ""
"0000503938" "00003059" "90" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Gly855Arg)" ""
"0000503940" "00003059" "30" "2709" "11" "2709" "11" "c.2709+11C>T" "r.(=)" "p.(=)" ""
"0000503941" "00003059" "10" "2943" "-15" "2943" "-15" "c.2943-15C>T" "r.(=)" "p.(=)" ""
"0000604931" "00003059" "30" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Ile)" ""
"0000604932" "00003059" "50" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238His)" ""
"0000604933" "00003059" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Val440Met)" ""
"0000604934" "00003059" "30" "2027" "0" "2027" "0" "c.2027A>T" "r.(?)" "p.(Asp676Val)" ""
"0000604935" "00003059" "30" "2937" "0" "2937" "0" "c.2937G>T" "r.(?)" "p.(Pro979=)" ""
"0000647417" "00003059" "70" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383His)" ""
"0000653790" "00003059" "30" "2751" "0" "2751" "0" "c.2751G>A" "r.(?)" "p.(Thr917=)" ""
"0000668970" "00003059" "30" "1704" "0" "1704" "0" "c.1704C>T" "r.(=)" "p.(=)" ""
"0000670376" "00003059" "90" "2942" "22" "3034" "61" "c.2942+22_3034+61del" "r.spl" "p.(Val982Leufs*31)" ""
"0000675517" "00003059" "30" "2439" "7" "2439" "7" "c.2439+7G>A" "r.(=)" "p.(=)" ""
"0000687912" "00003059" "50" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238His)" ""
"0000687913" "00003059" "50" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(His288Tyr)" ""
"0000716926" "00003059" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51His)" ""
"0000716927" "00003059" "50" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Cys)" ""
"0000716928" "00003059" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Asn329=)" ""
"0000716929" "00003059" "50" "1780" "0" "1780" "0" "c.1780dup" "r.(?)" "p.(Ala594Glyfs*42)" ""
"0000716930" "00003059" "30" "2142" "0" "2142" "0" "c.2142C>T" "r.(?)" "p.(Asp714=)" ""
"0000716931" "00003059" "90" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Gly855Arg)" ""
"0000716932" "00003059" "50" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879Trp)" ""
"0000786759" "00003059" "70" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Arg908Gln)" "20"
"0000798864" "00003059" "50" "1461" "5" "1461" "5" "c.1461+5G>A" "r.spl?" "p.?" ""
"0000798865" "00003059" "50" "2890" "0" "2890" "0" "c.2890T>C" "r.(?)" "p.(Phe964Leu)" ""
"0000848351" "00003059" "70" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Cys209Tyr)" ""
"0000848352" "00003059" "70" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Gly333Arg)" ""
"0000848353" "00003059" "50" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Trp)" ""
"0000857088" "00003059" "30" "129" "0" "129" "0" "c.129G>A" "r.(?)" "p.(Lys43=)" ""
"0000857089" "00003059" "30" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51His)" ""
"0000857090" "00003059" "50" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Gly114Ser)" ""
"0000857091" "00003059" "30" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Ile)" ""
"0000857092" "00003059" "30" "1652" "-11" "1652" "-11" "c.1652-11C>G" "r.(=)" "p.(=)" ""
"0000857093" "00003059" "30" "1704" "0" "1704" "0" "c.1704C>T" "r.(?)" "p.(Phe568=)" ""
"0000857094" "00003059" "30" "1980" "0" "1980" "0" "c.1980C>T" "r.(?)" "p.(Cys660=)" ""
"0000857095" "00003059" "90" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Arg763His)" ""
"0000857096" "00003059" "30" "2961" "0" "2961" "0" "c.2961C>T" "r.(?)" "p.(Cys987=)" ""
"0000880111" "00003059" "70" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Gly114Ser)" ""
"0000882862" "00003059" "30" "381" "3" "381" "3" "c.381+3G>A" "r.spl?" "p.?" ""
"0000882863" "00003059" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Ser)" ""
"0000882864" "00003059" "30" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" ""
"0000882865" "00003059" "50" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Glu492Lys)" ""
"0000882866" "00003059" "30" "2967" "0" "2967" "0" "c.2967C>T" "r.(?)" "p.(Phe989=)" ""
"0000910819" "00003059" "30" "2070" "0" "2070" "0" "c.2070G>A" "r.(?)" "p.(Thr690=)" ""
"0000910820" "00003059" "30" "2513" "0" "2513" "0" "c.2513C>T" "r.(?)" "p.(Thr838Met)" ""
"0000910821" "00003059" "30" "2751" "0" "2751" "0" "c.2751G>A" "r.(?)" "p.(Thr917=)" ""
"0000919543" "00003059" "50" "538" "0" "538" "0" "c.538G>T" "r.(?)" "p.(Ala180Ser)" ""
"0000920851" "00003059" "50" "2254" "0" "2254" "0" "c.2254T>A" "r.(?)" "p.(Phe752Ile)" ""
"0000922983" "00003059" "50" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Ser153Pro)" ""
"0000922984" "00003059" "30" "495" "11" "495" "11" "c.495+11A>C" "r.(=)" "p.(=)" ""
"0000922985" "00003059" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Val440Met)" ""
"0000922986" "00003059" "70" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" ""
"0000922987" "00003059" "30" "2943" "-15" "2943" "-15" "c.2943-15C>T" "r.(=)" "p.(=)" ""
"0000927749" "00003059" "50" "2444" "0" "2444" "0" "c.2444C>T" "r.(?)" "p.(Pro815Leu)" ""
"0000928047" "00003059" "90" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Arg763His)" ""
"0000932988" "00003059" "70" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383His)" ""
"0000947017" "00003059" "50" "1461" "5" "1461" "5" "c.1461+5G>A" "r.spl?" "p.?" ""
"0000947018" "00003059" "30" "1652" "-7" "1652" "-7" "c.1652-7C>A" "r.(=)" "p.(=)" ""
"0000947019" "00003059" "50" "2273" "0" "2273" "0" "c.2273G>A" "r.(?)" "p.(Gly758Glu)" ""
"0000973413" "00003059" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Asn329=)" ""
"0000973414" "00003059" "50" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Val386Ile)" ""
"0000973415" "00003059" "50" "1631" "0" "1631" "0" "c.1631G>T" "r.(?)" "p.(Gly544Val)" ""
"0000973416" "00003059" "30" "1965" "-10" "1965" "-10" "c.1965-10C>T" "r.(=)" "p.(=)" ""
"0000973417" "00003059" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Met849Thr)" ""
"0000973418" "00003059" "30" "2840" "3" "2840" "3" "c.2840+3G>A" "r.spl?" "p.?" ""
"0000985304" "00003059" "50" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Arg65Trp)" ""
"0000989363" "00003059" "50" "2115" "5" "2115" "5" "c.2115+5G>A" "r.(?)" "p.(?)" ""
"0000990461" "00003059" "30" "25" "0" "25" "0" "c.25T>A" "r.(?)" "p.(Tyr9Asn)" ""
"0000990462" "00003059" "50" "151" "0" "151" "0" "c.151C>G" "r.(?)" "p.(Arg51Gly)" ""
"0000990463" "00003059" "30" "355" "0" "355" "0" "c.355A>G" "r.(?)" "p.(Met119Val)" ""
"0000990464" "00003059" "90" "359" "0" "359" "0" "c.359A>C" "r.(?)" "p.(Glu120Ala)" ""
"0000990465" "00003059" "50" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Arg267His)" ""
"0000990466" "00003059" "30" "1461" "5" "1461" "5" "c.1461+5G>A" "r.spl?" "p.?" ""
"0000990467" "00003059" "30" "1492" "0" "1492" "0" "c.1492C>G" "r.(?)" "p.(Gln498Glu)" ""
"0000990468" "00003059" "50" "1492" "0" "1492" "0" "c.1492del" "r.(?)" "p.(Gln498Argfs*6)" ""
"0000990469" "00003059" "50" "1930" "0" "1930" "0" "c.1930C>T" "r.(?)" "p.(Arg644Trp)" ""
"0000990470" "00003059" "30" "3025" "0" "3025" "0" "c.3025T>C" "r.(?)" "p.(Tyr1009His)" ""
"0001011144" "00003059" "90" "1478" "0" "1497" "0" "c.1478_1497del" "r.(?)" "p.(Arg493Profs*73)" ""
"0001013230" "00003059" "90" "923" "0" "923" "0" "c.923C>T" "r.(?)" "p.(Ser308Phe)" ""
"0001024049" "00003059" "10" "25" "0" "25" "0" "c.25T>A" "r.(?)" "p.(Tyr9Asn)" ""
"0001024050" "00003059" "30" "1652" "-18" "1652" "-18" "c.1652-18C>A" "r.(=)" "p.(=)" ""
"0001024051" "00003059" "50" "1931" "0" "1931" "0" "c.1931G>A" "r.(?)" "p.(Arg644Gln)" ""
"0001031393" "00003059" "30" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Thr15Met)" ""
"0001031394" "00003059" "50" "290" "0" "290" "0" "c.290G>T" "r.(?)" "p.(Gly97Val)" ""
"0001031395" "00003059" "30" "631" "-295" "631" "-295" "c.631-295C>T" "r.(=)" "p.(=)" ""
"0001031396" "00003059" "30" "1318" "0" "1318" "0" "c.1318G>T" "r.(?)" "p.(Val440Leu)" ""
"0001031397" "00003059" "30" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" ""
"0001031398" "00003059" "30" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Glu492Lys)" ""
"0001031399" "00003059" "70" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" ""
"0001031400" "00003059" "30" "1735" "0" "1735" "0" "c.1735A>G" "r.(?)" "p.(Lys579Glu)" ""
"0001045606" "00003059" "30" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Arg7His)" ""
"0001045607" "00003059" "70" "1843" "0" "1843" "0" "c.1843G>A" "r.(?)" "p.(Gly615Arg)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 321
"{{screeningid}}" "{{variantid}}"
"0000034890" "0000062009"
"0000034891" "0000062010"
"0000034892" "0000062011"
"0000034893" "0000062012"
"0000034894" "0000062013"
"0000034895" "0000062014"
"0000034896" "0000062015"
"0000034897" "0000062016"
"0000034898" "0000062017"
"0000034899" "0000062018"
"0000034900" "0000062019"
"0000034901" "0000062020"
"0000034902" "0000062021"
"0000034903" "0000062022"
"0000034904" "0000062023"
"0000034905" "0000062024"
"0000034906" "0000062025"
"0000034907" "0000062026"
"0000034908" "0000062027"
"0000034909" "0000062028"
"0000034910" "0000062029"
"0000034911" "0000062030"
"0000034912" "0000062031"
"0000034913" "0000062032"
"0000034914" "0000062033"
"0000109010" "0000175074"
"0000109011" "0000175075"
"0000109012" "0000175076"
"0000109013" "0000175091"
"0000109014" "0000175092"
"0000109015" "0000175120"
"0000109016" "0000175077"
"0000109017" "0000175096"
"0000109018" "0000175093"
"0000109019" "0000175094"
"0000109020" "0000175078"
"0000109021" "0000175079"
"0000109022" "0000175080"
"0000109024" "0000175116"
"0000109025" "0000175081"
"0000109026" "0000175107"
"0000109027" "0000175121"
"0000109028" "0000175117"
"0000109029" "0000175082"
"0000109030" "0000175122"
"0000109031" "0000175123"
"0000109032" "0000175083"
"0000109033" "0000175124"
"0000109034" "0000175115"
"0000109035" "0000175125"
"0000109036" "0000175098"
"0000109037" "0000175126"
"0000109038" "0000175084"
"0000109039" "0000175127"
"0000109040" "0000175108"
"0000109041" "0000175099"
"0000109042" "0000175085"
"0000109043" "0000175086"
"0000109044" "0000175128"
"0000109045" "0000175129"
"0000109046" "0000175109"
"0000109047" "0000175130"
"0000109048" "0000175131"
"0000109049" "0000175132"
"0000109050" "0000175100"
"0000109051" "0000175133"
"0000109052" "0000175110"
"0000109053" "0000175134"
"0000109054" "0000175087"
"0000109055" "0000175095"
"0000109056" "0000175101"
"0000109057" "0000175135"
"0000109058" "0000175136"
"0000109059" "0000175137"
"0000109060" "0000175111"
"0000109061" "0000175102"
"0000109062" "0000175138"
"0000109063" "0000175103"
"0000109064" "0000175139"
"0000109065" "0000175140"
"0000109066" "0000175118"
"0000109067" "0000175104"
"0000109068" "0000175088"
"0000109069" "0000175141"
"0000109070" "0000175142"
"0000109071" "0000175105"
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