### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GYPA) # 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}}" "GYPA" "glycophorin A (MNS blood group)" "4" "q31.21" "unknown" "NG_007470.3" "UD_132084563316" "" "http://www.LOVD.nl/GYPA" "" "1" "4702" "2993" "111300" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GYPA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-12-15 05:37:40" "00006" "2020-06-26 18:37:29" ## 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}}" "00009092" "GYPA" "glycophorin A (MNS blood group)" "001" "NM_002099.6" "" "NP_002090.4" "" "" "" "-116" "2544" "453" "145061904" "145030456" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00309" "MLRS" "malaria, susceptibility to" "" "611162" "" "" "" "00006" "2014-01-24 11:34:13" "00006" "2021-12-14 08:45:33" "05107" "MN" "blood group system, MN locus (MN)" "" "111300" "" "" "" "00006" "2015-12-17 06:37:01" "00006" "2020-06-26 11:11:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GYPA" "00309" "GYPA" "05107" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00056382" "" "" "" "1" "" "00006" "{PMID:Huang 1993:8444872}" "" "" "" "United States" "" "0" "" "" "" "" "00305489" "" "" "" "1" "" "00006" "{PMID:Huang 1993:8245024}" "" "" "" "United States" "" "0" "" "" "" "individual" "00305491" "" "" "" "1" "" "00006" "" "reference haplotype" "F;M" "" "" "" "0" "" "" "" "reference haplotype" "00305492" "" "" "" "1" "" "00006" "" "reference haplotype" "F;M" "" "" "" "0" "" "" "" "reference haplotype" "00305499" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305500" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305501" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305502" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305503" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305504" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305505" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305506" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305507" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305508" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305509" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305510" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305511" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305512" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305513" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" "00305514" "" "" "" "1" "" "00006" "" "reference haplotype" "" "" "" "" "0" "" "" "" "reference haplotype" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00056382" "05107" "00305489" "05107" "00305491" "05107" "00305492" "05107" "00305499" "05107" "00305500" "05107" "00305501" "05107" "00305502" "05107" "00305503" "05107" "00305504" "05107" "00305505" "05107" "00305506" "05107" "00305507" "05107" "00305508" "05107" "00305509" "05107" "00305510" "05107" "00305511" "05107" "00305512" "05107" "00305513" "05107" "00305514" "05107" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00309, 05107 ## Count = 19 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000042999" "05107" "00056382" "00006" "Unknown" "" "MNS red cell bloodgroup typing M- N+ S- s+, ERIK+, St(a+)" "" "" "" "" "" "" "" "" "" "0000231346" "05107" "00305492" "00006" "Familial, autosomal dominant" "" "MNS:2 or N+" "" "" "" "" "" "" "" "blood group N" "" "0000231347" "05107" "00305491" "00006" "Familial, autosomal dominant" "" "MNS:1 or M+" "" "" "" "" "" "" "" "blood group M" "" "0000231348" "05107" "00305499" "00006" "Unknown" "" "MNS:1,-2,8 or Mc+; most anti-M but only few anti-N react with Mc+ RBCs" "" "" "" "" "" "" "" "blood group M" "" "0000231349" "05107" "00305500" "00006" "Unknown" "" "MNS:7,9,–40 or Vw+" "" "" "" "" "" "" "" "blood group M" "" "0000231350" "05107" "00305501" "00006" "Unknown" "" "MNS:−1,−2,11,32 or Mg+DANE+" "" "" "" "" "" "" "" "blood group M" "" "0000231351" "05107" "00305502" "00006" "Unknown" "" "MNS:12 or Vr+" "" "" "" "" "" "" "" "blood group M" "" "0000231352" "05107" "00305503" "00006" "Unknown" "" "MNS:14 or Mt(a+)" "" "" "" "" "" "" "" "blood group M" "" "0000231353" "05107" "00305504" "00006" "Unknown" "" "MNS:16 or Ri(a+)" "" "" "" "" "" "" "" "blood group M" "" "0000231354" "05107" "00305505" "00006" "Unknown" "" "MNS:18 or Ny(a+)" "" "" "" "" "" "" "" "blood group M" "" "0000231355" "05107" "00305506" "00006" "Unknown" "" "MNS:7,19,–40 or Hut+" "" "" "" "" "" "" "" "blood group M" "" "0000231356" "05107" "00305507" "00006" "Unknown" "" "MNS:31 or Or+" "" "" "" "" "" "" "" "blood group M" "" "0000231357" "05107" "00305508" "00006" "Unknown" "" "MNS:37 or ERIK+" "" "" "" "" "" "" "" "blood group M" "" "0000231358" "05107" "00305509" "00006" "Unknown" "" "MNS:38 or Os(a+)" "" "" "" "" "" "" "" "blood group M" "" "0000231359" "05107" "00305510" "00006" "Unknown" "" "MNS:–39,41 or HAG+" "" "" "" "" "" "" "" "blood group M" "" "0000231360" "05107" "00305511" "00006" "Unknown" "" "MNS:–42,43 or MARS+" "" "" "" "" "" "" "" "blood group M" "" "0000231361" "05107" "00305512" "00006" "Unknown" "" "MNS:–45 or ENEV–" "" "" "" "" "" "" "" "blood group M" "" "0000231362" "05107" "00305513" "00006" "Unknown" "" "MNS:46 or MNTD+" "" "" "" "" "" "" "" "blood group M" "" "0000231363" "05107" "00305514" "00006" "Unknown" "" "MNS:47 or SARA+" "" "" "" "" "" "" "" "blood group M" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056337" "00056382" "1" "00006" "00006" "2015-12-17 06:58:21" "" "" "SEQ;Southern" "DNA" "" "" "0000306618" "00305489" "1" "00006" "00006" "2020-06-26 14:23:47" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000306619" "00305491" "1" "00006" "00006" "2020-06-26 14:40:51" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000306620" "00305492" "1" "00006" "00006" "2020-06-26 14:47:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000306628" "00305499" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306629" "00305500" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306630" "00305501" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306631" "00305502" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306632" "00305503" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306633" "00305504" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306634" "00305505" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306635" "00305506" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306636" "00305507" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306637" "00305508" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306638" "00305509" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306639" "00305510" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306640" "00305511" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306641" "00305512" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306642" "00305513" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" "0000306643" "00305514" "1" "00006" "00006" "2020-06-26 18:32:49" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000056337" "GYPA" "0000306618" "GYPA" "0000306619" "GYPA" "0000306620" "GYPA" "0000306628" "GYPA" "0000306629" "GYPA" "0000306630" "GYPA" "0000306631" "GYPA" "0000306632" "GYPA" "0000306633" "GYPA" "0000306634" "GYPA" "0000306635" "GYPA" "0000306636" "GYPA" "0000306637" "GYPA" "0000306638" "GYPA" "0000306639" "GYPA" "0000306640" "GYPA" "0000306641" "GYPA" "0000306642" "GYPA" "0000306643" "GYPA" ## 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 = 52 "{{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}}" "0000086577" "1" "99" "4" "145040814" "145040931" "delins" "0" "00006" "GYPA_000003" "g.145040814_145040931delins144921511_144921625" "" "{PMID:Huang 1993:08444872}" "" "" "GYPA c.140_232+25 is replaced by GYPB (NM_002100.4) c.136+713_136+827" "Germline" "yes" "" "0" "" "" "g.144119661_144119778delins144000358_144000472" "" "benign (dominant)" "" "0000670265" "1" "90" "4" "145040839" "145040839" "subst" "3.264E-5" "00006" "GYPA_000004" "g.145040839C>T" "" "{PMID:Huang 1993:08245024}, {OMIM617922:0001}" "MspI-" "" "" "Germline" "" "" "0" "" "" "g.144119686C>T" "" "benign (dominant)" "" "0000670266" "1" "70" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "bloodgroup M reference haplotype" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670267" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "bloodgroup M reference haplotype" "SUMMARY record" "" "" "0" "" "" "g.g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670268" "1" "10" "4" "145041720" "145041720" "" "0" "00006" "GYPA_000007" "g.145041720=" "" "{DB:ISBTMSN}" "" "[59=;71_72=] [Leu20=;Glu24=]" "bloodgroup N reference haplotype (phenotype of reference genome)" "SUMMARY record" "" "" "0" "" "" "g.144120567=" "" "benign (dominant)" "" "0000670269" "1" "10" "4" "145041707" "145041708" "" "0" "00006" "GYPA_000008" "g.145041707_145041708=" "" "{DB:ISBTMSN}" "" "[59=;71_72=] [Leu20=;Glu24=]" "bloodgroup N reference haplotype" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555=" "" "benign (dominant)" "" "0000670279" "1" "50" "4" "145040931" "145040931" "subst" "0.000142974" "00006" "GYPA_000018" "g.145040931G>A" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*09 / GYPA*Vw" "SUMMARY record" "" "" "0" "" "" "g.144119778G>A" "" "benign" "" "0000670280" "1" "50" "4" "145041711" "145041711" "subst" "0.000113877" "00006" "GYPA_000022" "g.145041711G>T" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*11 / GYPA*Mg" "SUMMARY record" "" "" "0" "" "" "g.144120558G>T" "" "benign" "" "0000670281" "1" "50" "4" "145040874" "145040874" "subst" "1.22208E-5" "00006" "GYPA_000016" "g.145040874G>T" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*12 / GYPA*Vr" "SUMMARY record" "" "" "0" "" "" "g.144119721G>T" "" "benign" "" "0000670282" "1" "50" "4" "145040841" "145040841" "subst" "0.000383454" "00006" "GYPA_000013" "g.145040841G>A" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*14 / GYPA*Mta" "SUMMARY record" "" "" "0" "" "" "g.144119688G>A" "" "benign" "" "0000670283" "1" "50" "4" "145040845" "145040845" "subst" "0" "00006" "GYPA_000014" "g.145040845C>T" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*16 / GYPA*Ria" "SUMMARY record" "" "" "0" "" "" "g.144119692C>T" "" "benign" "" "0000670284" "1" "50" "4" "145040933" "145040933" "subst" "8.17013E-6" "00006" "GYPA_000020" "g.145040933A>T" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*18 / GYP*Nya" "SUMMARY record" "" "" "0" "" "" "g.144119780A>T" "" "benign" "" "0000670285" "1" "50" "4" "145040931" "145040931" "subst" "0.000183824" "00006" "GYPA_000019" "g.145040931G>T" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*19 / GYPA*Hut" "SUMMARY record" "" "" "0" "" "" "g.144119778G>T" "" "benign" "" "0000670286" "1" "50" "4" "145040923" "145040923" "subst" "5.70967E-5" "00006" "GYPA_000017" "g.145040923G>A" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*31 / GYPA*/" "SUMMARY record" "" "" "0" "" "" "g.144119770G>A" "" "benign" "" "0000670287" "1" "90" "4" "145040839" "145040839" "subst" "3.264E-5" "00006" "GYPA_000004" "g.145040839C>T" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*37 / GYPA*ERIK" "SUMMARY record" "" "" "0" "" "" "g.144119686C>T" "" "benign (dominant)" "" "0000670288" "1" "50" "4" "145040854" "145040854" "subst" "0" "00006" "GYPA_000015" "g.145040854G>A" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*38 / GYPA*Osa" "SUMMARY record" "" "" "0" "" "" "g.144119701G>A" "" "benign" "" "0000670289" "1" "50" "4" "145039888" "145039888" "subst" "1.62774E-5" "00006" "GYPA_000009" "g.145039888C>G" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*41 / GYPA*HAG" "SUMMARY record" "" "" "0" "" "" "g.144118735C>G" "" "benign" "" "0000670290" "1" "50" "4" "145039894" "145039894" "subst" "0" "00006" "GYPA_000010" "g.145039894G>T" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*43 / GYPA*MARS" "SUMMARY record" "" "" "0" "" "" "g.144118741G>T" "" "benign" "" "0000670291" "1" "50" "4" "145039896" "145039896" "subst" "8.13928E-6" "00006" "GYPA_000011" "g.145039896A>C" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*–45" "SUMMARY record" "" "" "0" "" "" "g.144118743A>C" "" "benign" "" "0000670292" "1" "50" "4" "145041672" "145041672" "subst" "0" "00006" "GYPA_000021" "g.145041672G>C" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*46 / GYPA*MNTD" "SUMMARY record" "" "" "0" "" "" "g.144120519G>C" "" "benign" "" "0000670293" "1" "50" "4" "145039898" "145039898" "subst" "4.07E-6" "00006" "GYPA_000012" "g.145039898C>A" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*47 / GYPA*SARA" "SUMMARY record" "" "" "0" "" "" "g.144118745C>A" "" "benign" "" "0000670294" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "" "reference haplotype GYPA*08 / GYP*Mc" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670295" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*09 / GYPA*Vw" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670296" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*11 / GYPA*Mg" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670297" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*12 / GYPA*Vr" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670298" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*14 / GYPA*Mta" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670299" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*16 / GYPA*Ria" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670300" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*18 / GYP*Nya" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670301" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*19 / GYPA*Hut" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670302" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*31 / GYPA*/" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670303" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*37 / GYPA*ERIK" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670304" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*38 / GYPA*Osa" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670305" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*41 / GYPA*HAG" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670306" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*43 / GYPA*MARS" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670307" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*–45" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670308" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*46 / GYPA*MNTD" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670309" "1" "90" "4" "145041707" "145041708" "delins" "0" "00006" "GYPA_000006" "g.145041707_145041708delinsAC" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*47 / GYPA*SARA" "SUMMARY record" "" "" "0" "" "" "g.144120554_144120555delinsAC" "" "benign (dominant)" "" "0000670311" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*09 / GYPA*Vw" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670312" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*11 / GYPA*Mg" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670313" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*12 / GYPA*Vr" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670314" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*14 / GYPA*Mta" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670315" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*16 / GYPA*Ria" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670316" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*18 / GYP*Nya" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670317" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*19 / GYPA*Hut" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670318" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*31 / GYPA*/" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670319" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*37 / GYPA*ERIK" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670320" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*38 / GYPA*Osa" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670321" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*41 / GYPA*HAG" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670322" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*43 / GYPA*MARS" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670323" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*–45" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670324" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*46 / GYPA*MNTD" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" "0000670325" "1" "90" "4" "145041720" "145041720" "subst" "0" "00006" "GYPA_000005" "g.145041720A>G" "" "{DB:ISBTMSN}" "" "[59T>C;71A>G;72G>T] [Leu20Ser;Glu24Gly]" "reference haplotype GYPA*47 / GYPA*SARA" "SUMMARY record" "" "" "0" "" "" "g.144120567A>G" "" "benign (dominant)" "" ## 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 GYPA ## Count = 52 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000086577" "00009092" "99" "140" "0" "232" "25" "c.140_232+25delins[NC_000004.11:g.144921511_144921625]" "r.[137_232del,137_271del]" "p.[Asp46_Thr77del,Asp46_Pro90del]" "3" "GPErik, HGpMz" "0000670265" "00009092" "90" "232" "0" "232" "0" "c.232G>A" "r.[232g>a,137_232del,38_232del,38_271del]" "p.[Gly78Arg,Asp46_Thr77del,Glu13_Thr77del,Val15_Ile92del]" "" "GYPA*37 / GYPA*ERIK" "0000670266" "00009092" "70" "59" "0" "59" "0" "c.59T>C" "r.59u>c" "p.Leu20Ser" "" "GYPA*01 / GYPA*M" "0000670267" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.71_72delinsgu" "p.Glu24Gly" "" "GYPA*01 / GYPA*M" "0000670268" "00009092" "10" "59" "0" "59" "0" "c.59=" "r.59=" "p.Leu20=" "" "GYPA*02 / GYPA*N" "0000670269" "00009092" "10" "71" "0" "72" "0" "c.71_72=" "r.71_72=" "p.Glu24=" "" "GYPA*02 / GYPA*N" "0000670279" "00009092" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Thr47Met)" "" "GYPA*09 / GYPA*Vw" "0000670280" "00009092" "50" "68" "0" "68" "0" "c.68C>A" "r.(?)" "p.(Thr23Asn)" "" "GYPA*11 / GYPA*Mg" "0000670281" "00009092" "50" "197" "0" "197" "0" "c.197C>A" "r.(?)" "p.(Ser66Tyr)" "" "GYPA*12 / GYPA*Vr" "0000670282" "00009092" "50" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Thr77Ile)" "" "GYPA*14 / GYPA*Mta" "0000670283" "00009092" "50" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "" "GYPA*16 / GYPA*Ria" "0000670284" "00009092" "50" "138" "0" "138" "0" "c.138T>A" "r.(?)" "p.(Asp46Glu)" "" "GYPA*18 / GYP*Nya" "0000670285" "00009092" "50" "140" "0" "140" "0" "c.140C>A" "r.(?)" "p.(Thr47Lys)" "" "GYPA*19 / GYPA*Hut" "0000670286" "00009092" "50" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Arg50Trp)" "" "GYPA*31 / GYPA*/" "0000670287" "00009092" "90" "232" "0" "232" "0" "c.232G>A" "r.spl" "p.[Gly78Arg,?]" "" "GYPA*37 / GYPA*ERIK" "0000670288" "00009092" "50" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Pro73Ser)" "" "GYPA*38 / GYPA*Osa" "0000670289" "00009092" "50" "250" "0" "250" "0" "c.250G>C" "r.(?)" "p.(Ala84Pro)" "" "GYPA*41 / GYPA*HAG" "0000670290" "00009092" "50" "244" "0" "244" "0" "c.244C>A" "r.(?)" "p.(Gln82Lys)" "" "GYPA*43 / GYPA*MARS" "0000670291" "00009092" "50" "242" "0" "242" "0" "c.242T>G" "r.(?)" "p.(Val81Gly)" "" "GYPA*–45" "0000670292" "00009092" "50" "107" "0" "107" "0" "c.107C>G" "r.(?)" "p.(Thr36Arg)" "" "GYPA*46 / GYPA*MNTD" "0000670293" "00009092" "50" "240" "0" "240" "0" "c.240G>T" "r.(?)" "p.(Arg80Ser)" "" "GYPA*47 / GYPA*SARA" "0000670294" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.(Leu20Ser)" "" "GYPA*08 / GYP*Mc" "0000670295" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*09 / GYPA*Vw" "0000670296" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*11 / GYPA*Mg" "0000670297" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*12 / GYPA*Vr" "0000670298" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*14 / GYPA*Mta" "0000670299" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*16 / GYPA*Ria" "0000670300" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*18 / GYP*Nya" "0000670301" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*19 / GYPA*Hut" "0000670302" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*31 / GYPA*/" "0000670303" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*37 / GYPA*ERIK" "0000670304" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*38 / GYPA*Osa" "0000670305" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*41 / GYPA*HAG" "0000670306" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*43 / GYPA*MARS" "0000670307" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*–45" "0000670308" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*46 / GYPA*MNTD" "0000670309" "00009092" "90" "71" "0" "72" "0" "c.71_72delinsGT" "r.(?)" "p.(Glu24Gly)" "" "GYPA*47 / GYPA*SARA" "0000670311" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*09 / GYPA*Vw" "0000670312" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*11 / GYPA*Mg" "0000670313" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*12 / GYPA*Vr" "0000670314" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*14 / GYPA*Mta" "0000670315" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*16 / GYPA*Ria" "0000670316" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*18 / GYP*Nya" "0000670317" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*19 / GYPA*Hut" "0000670318" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*31 / GYPA*/" "0000670319" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*37 / GYPA*ERIK" "0000670320" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*38 / GYPA*Osa" "0000670321" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*41 / GYPA*HAG" "0000670322" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*43 / GYPA*MARS" "0000670323" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*–45" "0000670324" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*46 / GYPA*MNTD" "0000670325" "00009092" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.Leu20Ser" "" "GYPA*47 / GYPA*SARA" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 52 "{{screeningid}}" "{{variantid}}" "0000056337" "0000086577" "0000306618" "0000670265" "0000306619" "0000670266" "0000306619" "0000670267" "0000306620" "0000670268" "0000306620" "0000670269" "0000306628" "0000670294" "0000306629" "0000670279" "0000306629" "0000670295" "0000306629" "0000670311" "0000306630" "0000670280" "0000306630" "0000670296" "0000306630" "0000670312" "0000306631" "0000670281" "0000306631" "0000670297" "0000306631" "0000670313" "0000306632" "0000670282" "0000306632" "0000670298" "0000306632" "0000670314" "0000306633" "0000670283" "0000306633" "0000670299" "0000306633" "0000670315" "0000306634" "0000670284" "0000306634" "0000670300" "0000306634" "0000670316" "0000306635" "0000670285" "0000306635" "0000670301" "0000306635" "0000670317" "0000306636" "0000670286" "0000306636" "0000670302" "0000306636" "0000670318" "0000306637" "0000670287" "0000306637" "0000670303" "0000306637" "0000670319" "0000306638" "0000670288" "0000306638" "0000670304" "0000306638" "0000670320" "0000306639" "0000670289" "0000306639" "0000670305" "0000306639" "0000670321" "0000306640" "0000670290" "0000306640" "0000670306" "0000306640" "0000670322" "0000306641" "0000670291" "0000306641" "0000670307" "0000306641" "0000670323" "0000306642" "0000670292" "0000306642" "0000670308" "0000306642" "0000670324" "0000306643" "0000670293" "0000306643" "0000670309" "0000306643" "0000670325"