### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RMRP)
# 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}}"
"RMRP" "RNA component of mitochondrial RNA processing endoribonuclease" "9" "p21-p12" "unknown" "NG_017041.1" "UD_134078453749" "" "https://www.LOVD.nl/RMRP" "Finnish Disease Database (FinDis) " "1" "10031" "6023" "157660" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "Gene encodes RNA component of mitochondrial RNA processing endoribonuclease, no protein of this gene is produced" "" "" "1" "" "" "-1" "" "-1" "00008" "2012-06-27 00:00:00" "00006" "2019-07-21 20:38:34" "00000" "2024-10-29 21:08:56"
## 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}}"
"00000246" "RMRP" "RNA component of mitochondrial RNA processing endoribonuclease" "001" "NR_003051.3" "" "" "" "" "" "1" "268" "268" "35658015" "35657748" "00008" "2012-06-27 10:09:15" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00070" "CHH" "cartilage-hair hypoplasia (CHH)" "AR" "250250" "" "" "" "00015" "2012-11-05 09:31:55" "00006" "2021-12-10 21:51:32"
"01913" "MDWH" "dysplasia, metaphyseal, without hypotrichosis" "AR" "250460" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02630" "ANXD1" "dysplasia, anauxetic, type 1" "AR" "607095" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"RMRP" "00070"
"RMRP" "01913"
"RMRP" "02630"
## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00408091" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "121"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00408091" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00070, 01913, 02630, 04214
## Count = 1
"{{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}}"
"0000300219" "04214" "00408091" "00000" "Familial, autosomal recessive" "2y" "2 years old boy whose antenatal scan detected short limbs. At birth he was found to have short limbs with short stature and normal head circumference. He had normal development, narrow chest, prominent wrist joints, mild bowing of lower limbs, joint hyperlaxity, dysplastic toe nails, short fingers, upslanting palpebral fissures, sparse hair, and medially flared eyebrows. His parents were cousins and he had 7 other siblings, 2 sisters had similar features." "" "" "" "" "" "" "" "Cartilage-hair hypoplasia" ""
## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000409346" "00408091" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000409346" "RMRP"
## 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 = 137
"{{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}}"
"0000016149" "0" "99" "9" "35658036" "35658037" "ins" "0" "00015" "RMRP_000001" "g.35658036_35658037insCCCCAGCTTCACAGAGT" "0/65 JAP CON" "{PMID:Nakashima et al. 2003:14608646}, {PMID:Hirose et al. 2006:16832578}" "" "n.-21_-20insTCTGTGAAGCTGGGGAC" "2 Japanese CHH families (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658039_35658040insCCCCAGCTTCACAGAGT" "" "pathogenic" ""
"0000016150" "0" "77" "9" "35658033" "35658039" "dup" "0" "00015" "RMRP_000002" "g.35658033_35658039dup" "" "{PMID:Vatanavicharn et al. 2010:21063072}" "" "g.-19_-25 dupACTACTC" "1 Thai CHH patient (hom)" "SUMMARY record" "yes" "" "" "" "" "g.35658036_35658042dup" "" "likely pathogenic" ""
"0000016151" "0" "99" "9" "35658024" "35658025" "ins" "0" "00015" "RMRP_000003" "g.35658024_35658025insTCAGCTTCACAGAGTACTTCACAGAGTA" "" "{PMID:Roifman et al. 2006:16630949}" "" "insertion TACTCTGTGAAGTACTCTGTGAAGCTGA at -10 (including 2 times duplication)" "1 CHH patient" "SUMMARY record" "yes" "" "" "" "" "g.35658027_35658028insTCAGCTTCACAGAGTACTTCACAGAGTA" "" "pathogenic" ""
"0000016153" "0" "77" "9" "35658028" "35658037" "dup" "0" "00015" "RMRP_000004" "g.35658028_35658037dup" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe et al. 2005:16244706}" "" "dupTACTCTGTGA at -13; g.-23_-14dupTACTCTGTGA" "2 Finnish CHH families (com-het) and 1 French CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658031_35658040dup" "" "likely pathogenic" ""
"0000016154" "0" "99" "9" "35657945" "35657945" "subst" "0.000883603" "00015" "RMRP_000005" "g.35657945T>C" "10/845 FIN CON" "{PMID:Ridanpää et al. 2001:11207361}&{PMID:2002:12107819}, {PMID:Bonafe et al. 2002:11940090}&{PMID:2005:16244706} and others {PMID:2006:16838329}, {PMID:2008:18804272}, {PMID:2011:21570718}, {PMID:2012:22987807}, {PMID:2013:23643676}" "" "70A>G" "Finnish Major CHH mutation, (90> Finnish CHH families; most homozygous), and also the most common mutation (~48%) in other countries: Observed in American (also Amish), Australian, Austrian, Belgian, Brazilian, Canadian, Dutch, English, French, German, Turkish, Irish and Mexican CHH patients" "SUMMARY record" "yes" "" "0" "" "" "g.35657948T>C" "" "pathogenic" ""
"0000016186" "0" "77" "9" "35657861" "35657861" "subst" "7.96077E-6" "00015" "RMRP_000006" "g.35657861C>A" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "154T" "1 Finnish CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657864C>A" "" "likely pathogenic" ""
"0000016187" "0" "77" "9" "35657804" "35657804" "subst" "0" "00015" "RMRP_000007" "g.35657804G>C" "" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Hermanns el al. 2006:16838329}" "" "C211G" "1 Finnish, 1 American and 1 Polish CHH family and 1 German CHH patient (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657807G>C" "" "likely pathogenic" ""
"0000016188" "0" "77" "9" "35657753" "35657753" "subst" "8.40025E-6" "00015" "RMRP_000008" "g.35657753C>A" "0/280 CON" "{PMID:Ridanpää et al. 2001:11207361}, {PMID:Ridanpää et al. 2002:12107819}" "" "262G>T" "13 Finnish CHH families (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657756C>A" "" "likely pathogenic" ""
"0000016189" "0" "77" "9" "35658029" "35658038" "dup" "0" "00015" "RMRP_000009" "g.35658029_35658038dup" "" "{PMID:Hermanns el al. 2006:16838329}" "" "-15_-24dupCTACTCTGTG" "1 American CHH patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658032_35658041dup" "" "likely pathogenic" ""
"0000016190" "0" "77" "9" "35658029" "35658037" "dup" "0" "00015" "RMRP_000010" "g.35658029_35658037dup" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.-23_-15dupTACTCTGTG" "1 French CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658032_35658040dup" "" "likely pathogenic" ""
"0000016191" "11" "99" "9" "35658025" "35658039" "" "0" "00015" "RMRP_000030" "g.35658025_35658039[3]" "" "{PMID:Ridanpää et al. 2001:11207361}, {PMID:Ridanpää et al. 2002:12107819}" "" "Two times dupACTACTCTGTGAAGC at -10" "1 Swiss CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "" "" "pathogenic" ""
"0000016192" "0" "77" "9" "35658028" "35658034" "dup" "0" "00015" "RMRP_000011" "g.35658028_35658034dup" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe et al. 2005:16244706}, {PMID:Hermanns el al. 2006:16838329}, {PMID:Kavadas et al. 2008:18804272}" "" "dup TCTGTGA at -13; g.-20_-14dupTCTGTGA; -14_-20dupTCTGTGA; -20-14dup" "2 American CHH families, 1 American CHH patient and 1 CHH family with undetermined ethnicity (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658031_35658037dup" "" "likely pathogenic" ""
"0000016193" "0" "77" "9" "35658027" "35658039" "dup" "0" "00015" "RMRP_000012" "g.35658027_35658039dup" "" "{PMID:Kavadas et al. 2008:18804272}" "" "-25_-13dup" "1 CHH family (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35658030_35658042dup" "" "likely pathogenic" ""
"0000016194" "21" "99" "9" "35658027" "35658028" "ins" "0" "00015" "RMRP_000013" "g.35658027_35658028insCACAGAT" "" "{PMID:Roifman et al. 2006:16630949}" "" "insertion ATCTGTG at -13" "1 CHH patient with undetermined ethnicity (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658030_35658031insCACAGAT" "" "pathogenic" ""
"0000016195" "0" "77" "9" "35658025" "35658039" "dup" "0" "00015" "RMRP_000014" "g.35658025_35658039dup" "" "{PMID:Hermanns el al. 2006:16838329}, {PMID:Munoz-Robles et al. 2006:17015150}, {PMID:Kavadas et al. 2008:18804272}" "" "g.-25_-11 dupACTACTCTGTGAAGC; -25_-11dup; -11_-25dupACTACTCTGTGAAGC" "1 German and 1 Spanish CHH patient and 1 CHH family with undetermined ethnicity (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658028_35658042dup" "" "likely pathogenic" ""
"0000016196" "0" "55" "9" "35658026" "35658038" "dup" "0" "00015" "RMRP_000015" "g.35658026_35658038dup" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.-22_-10dupACTCTGTGAAGCT" "1 French CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658029_35658041dup" "" "VUS" ""
"0000016197" "0" "77" "9" "35658021" "35658037" "dup" "0" "00015" "RMRP_000016" "g.35658021_35658037dup" "" "{PMID:Fuente et al. 2011:21570718}" "" "-23-8dupTACTCTGTGAAGCTGAG" "1 CHH patient (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35658024_35658040dup" "" "likely pathogenic" ""
"0000016198" "0" "77" "9" "35657742" "35657742" "subst" "0" "00015" "RMRP_000017" "g.35657742A>G" "" "{PMID:Kavadas et al. 2008:18804272}" "" "*5T>C" "1 CHH family (com-het) with undetermined ethnicity\r\nVariant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "" "" "" "g.35657745A>G" "" "likely pathogenic" ""
"0000016199" "0" "77" "9" "35658011" "35658011" "subst" "0.000105347" "00015" "RMRP_000018" "g.35658011G>A" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe 2005:16244706}, {PMID:Roifman 2006:16630949}, {PMID:Hermanns 2006:16838329}, {PMID:Munoz-Robles 2006:17015150} and {PMID:Kavadas 2008:18804272}, {PMID:Bacchetta 2009:19626344}" "" "4T; g.4C>T; 4C>T" "1 Australian, 1 Dutch, 1 English, 1 German, 1 Spanish, 1 Swiss and 1 Italian CHH family, 1 German CHH patient and 2 CHH patients and 1 CHH family with undetermined ethnicity (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658014G>A" "" "likely pathogenic" ""
"0000016200" "0" "77" "9" "35658006" "35658006" "subst" "8.06725E-6" "00015" "RMRP_000019" "g.35658006A>G" "" "{PMID:Hermanns el al. 2006:16838329}" "" "9T>C" "1 German CHH patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658009A>G" "" "likely pathogenic" ""
"0000016201" "0" "77" "9" "35658028" "35658035" "" "0" "00015" "RMRP_000021" "g.35658028_35658035[3]" "" "{PMID:Kavadas et al. 2008:18804272}" "" "-21_-14trip" "1 CHH family (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "" "" "likely pathogenic" ""
"0000016202" "0" "77" "9" "35658024" "35658039" "" "0" "00015" "RMRP_000031" "g.35658024_35658039[3]" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.-25_-10tripACTACTCTGTGAAGCT" "1 Italian CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "" "" "likely pathogenic" ""
"0000016203" "0" "77" "9" "35658019" "35658039" "dup" "0" "00015" "RMRP_000023" "g.35658019_35658039dup" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}, {PMID:Hermanns el al. 2006:16838329}, {PMID:Kavadas et al. 2008:18804272}" "" "g.-25_-5dupACTACTCTGTGAAGCTGAGGA; -25_-5dup; 6_-25dupACTACTCTGTGAAGCTGAGA" "1 German CHH family and 2 Belgian siblings, 1 CHH family with undetermined ethnicity (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658022_35658042dup" "" "likely pathogenic" ""
"0000016204" "0" "77" "9" "35658022" "35658031" "dup" "0" "00015" "RMRP_000032" "g.35658022_35658031dup" "" "{PMID:Ridanpää et al. 2002:12107819}" "" "dup TGAAGCTGAG at -6" "1 French CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658025_35658034dup" "" "likely pathogenic" ""
"0000016205" "0" "77" "9" "35658022" "35658029" "dup" "0" "00015" "RMRP_000020" "g.35658022_35658029dup" "" "{PMID:Ridanpää et al. 2002:12107819}" "" "dup AAGCTGAG at -6" "1 Mexican CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658025_35658032dup" "" "likely pathogenic" ""
"0000016206" "21" "99" "9" "35658025" "35658026" "ins" "0" "00015" "RMRP_000033" "g.35658025_35658026insGCTCAG" "0/280 CON" "{PMID:Ridanpää et al. 2001:11207361}, {PMID:Ridanpää et al. 2002:12107819}" "" "insCCTGAG at -6" "1 German CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658028_35658029insGCTCAG" "" "pathogenic" ""
"0000016207" "0" "77" "9" "35658020" "35658041" "dup" "0" "00015" "RMRP_000022" "g.35658020_35658041dup" "" "{PMID:Hermanns el al. 2006:16838329}" "" "-5_-26dupTACTACTCTGTGAAGCTGAGAA" "1 American CHH patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658023_35658044dup" "" "likely pathogenic" ""
"0000016208" "0" "77" "9" "35658019" "35658025" "delins" "0" "00015" "RMRP_000024" "g.35658019_35658025delins28" "" "{PMID:Kavadas et al. 2008:18804272}" "" "-11_-5delCTGAGGAins28bp" "1 CHH family (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "" "" "likely pathogenic" ""
"0000016209" "21" "77" "9" "35658020" "35658039" "dup" "0" "00015" "RMRP_000025" "g.35658020_35658039dup" "" "{PMID:Harada et al. 2005:15780958}, {PMID:Hermanns el al. 2006:16838329}" "" "20 bp duplication (TACTCTGTGAAGCTGAGGAC) at nt -3; n.-4_-23dupTACTCTGTGAAGCTGAGGAC" "1 Japanese CHH family and 1 German CHH patient (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658023_35658042dup" "" "likely pathogenic" ""
"0000016210" "11" "77" "9" "35658020" "35658036" "dup" "0" "00015" "RMRP_000026" "g.35658020_35658036dup" "0/280 CON" "{PMID:Ridanpää et al. 2001:11207361}, {PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe et al. 2005:16244706}" "" "dupTCTGTGAAGCTGAGGAC at g.-3; -20_-4dupTCTGTGAAGCTGAGGAC" "1 English and 1 Swiss CHH family (both com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658023_35658039dup" "" "likely pathogenic" ""
"0000016211" "0" "77" "9" "35658018" "35658019" "ins" "0" "00015" "RMRP_000027" "g.35658018_35658019insAACCACGTCC" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "ins GGACGTGGTT at -4" "1 French CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658021_35658022insAACCACGTCC" "" "likely pathogenic" ""
"0000016212" "11" "77" "9" "35658018" "35658029" "dup" "0" "00015" "RMRP_000028" "g.35658018_35658029dup" "0/60 CON" "{PMID:Bonafe et al. 2002:11940090}, {PMID:Bonafe et al. 2005:16244706}" "" "dup(aagctgaggacg) at -2; g.-14_-3dupAAGCTGAGGACG" "1 Swiss and 1 Swiss-Danish CHH family (both com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658021_35658032dup" "" "likely pathogenic" ""
"0000016213" "0" "77" "9" "35658017" "35658024" "dup" "0" "00015" "RMRP_000029" "g.35658017_35658024dup" "" "{PMID:Kavadas et al. 2008:18804272}" "" "-9_-2dup" "1 CHH family (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35658020_35658027dup" "" "likely pathogenic" ""
"0000016219" "0" "77" "9" "35658018" "35658031" "dup" "0" "00015" "RMRP_000036" "g.35658018_35658031dup" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "dup AAGCTGAGGACGTG at 1" "1 American CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658021_35658034dup" "" "likely pathogenic" ""
"0000016220" "0" "77" "9" "35658015" "35658035" "dup" "0" "00015" "RMRP_000034" "g.35658015_35658035dup" "" "{PMID:Hermanns el al. 2006:16838329}" "" "-1_-21dupCTCTGTGAAGCTGAGGACGTG" "1 American CHH patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658018_35658038dup" "" "likely pathogenic" ""
"0000016221" "11" "77" "9" "35658017" "35658032" "dup" "0" "00015" "RMRP_000035" "g.35658017_35658032dup" "0/65 JAP CON" "{PMID:Hirose et al. 2006:16832578}" "" "16-bp dup at +1" "1 Japanese CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658020_35658035dup" "" "likely pathogenic" ""
"0000016222" "0" "77" "9" "35658017" "35658024" "dup" "0" "00015" "RMRP_000037" "g.35658017_35658024dup" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.-8_-1dupAGGACGTG" "1 Canadian CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658020_35658027dup" "" "likely pathogenic" ""
"0000016223" "0" "77" "9" "35658015" "35658018" "dup" "0" "00015" "RMRP_000038" "g.35658015_35658018dup" "" "{PMID:Kavadas et al. 2008:18804272}" "" "-4_-1dup" "1 CHH family (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35658018_35658021dup" "" "likely pathogenic" ""
"0000016224" "21" "77" "9" "35658015" "35658031" "dup" "0" "00015" "RMRP_000039" "g.35658015_35658031dup" "0/65 JAP CON" "{PMID:Nakashima et al. 2003:14608646}, {PMID:Hirose et al. 2006:16832578}" "" "17-bp duplication (GAAGCTGAGGACGTGGT) at +3; 17-bp dup at +3" "6 Japanese CHH families (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658018_35658034dup" "" "likely pathogenic" ""
"0000016225" "0" "77" "9" "35658012" "35658021" "dup" "0" "00015" "RMRP_000040" "g.35658012_35658021dup" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "dup GGACGTGGTT at 4" "1 Brazilian CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658015_35658024dup" "" "likely pathogenic" ""
"0000016978" "1" "55" "9" "35658004" "35658004" "subst" "0" "00015" "RMRP_000041" "g.35658004T>C" "" "{PMID:Kwan et al. 2012:22987807}" "" "g.11A>G reported previously as polymorphisms" "" "SUMMARY record" "yes" "" "" "" "" "g.35658007T>C" "" "VUS" ""
"0000016979" "1" "77" "9" "35658001" "35658001" "subst" "2.41499E-5" "00015" "RMRP_000042" "g.35658001C>A" "" "{PMID:Hermanns el al. 2006:16838329}" "" "14G>T" "1 American CHH patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35658004C>A" "" "likely pathogenic" ""
"0000016980" "1" "77" "9" "35657997" "35657997" "subst" "0" "00015" "RMRP_000043" "g.35657997C>G" "" "{PMID:Fuente et al. 2011:21570718}" "" "g.G18>C" "1 CHH patient (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35658000C>G" "" "likely pathogenic" ""
"0000016981" "1" "77" "9" "35657988" "35657988" "subst" "0" "00015" "RMRP_000044" "g.35657988C>T" "" "{PMID:Fuente et al. 2011:21570718}" "" "g.G27>A" "1 CHH patient (hom) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35657991C>T" "" "likely pathogenic" ""
"0000016982" "1" "77" "9" "35657980" "35657980" "subst" "0" "00015" "RMRP_000045" "g.35657980G>A" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.35C>T" "1 French CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657983G>A" "" "likely pathogenic" ""
"0000016983" "1" "77" "9" "35657975" "35657975" "subst" "7.96394E-6" "00015" "RMRP_000046" "g.35657975C>T" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.40G>A" "1 Dutch CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657978C>T" "" "likely pathogenic" ""
"0000016984" "1" "77" "9" "35657962" "35657970" "dup" "0" "00015" "RMRP_000047" "g.35657962_35657970dup" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.45_53dupTGTTCCTCC" "1 Dutch CHH family (com-het)\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "" "" "" "g.35657965_35657973dupGGAGGAACA" "" "likely pathogenic" ""
"0000016985" "1" "77" "9" "35657958" "35657959" "ins" "0" "00015" "RMRP_000048" "g.35657958_35657959insAGGCGGAA" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "ins TTCCGCCT at 57" "1 French CHH family (com-het)\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "" "" "" "g.35657961_35657962insAGGCGGAA" "" "likely pathogenic" ""
"0000016986" "1" "77" "9" "35657954" "35657954" "subst" "7.96166E-6" "00015" "RMRP_000049" "g.35657954C>T" "" "{PMID:Fuente et al. 2011:21570718}" "" "g.G61>A" "1 CHH patient (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35657957C>T" "" "likely pathogenic" ""
"0000016987" "1" "77" "9" "35657952" "35657952" "subst" "2.38827E-5" "00015" "RMRP_000050" "g.35657952G>A" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe et al. 2005:16244706}, {PMID:Kuijpers et al. 2003:14569125}" "" "63T; g.63C>T" "4 Dutch and 2 Australian CHH families, 1 French and 1 Caucasian-Afrikan-American CHH family (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657955G>A" "" "likely pathogenic" ""
"0000016988" "1" "77" "9" "35657951" "35657951" "subst" "0" "00015" "RMRP_000051" "g.35657951A>G" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.64T>C" "1 Italian CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657954A>G" "" "likely pathogenic" ""
"0000016989" "1" "77" "9" "35657946" "35657947" "delins" "0" "00015" "RMRP_000052" "g.35657946_35657947delinsAA" "" "{PMID:Horn et al. 2010:20538026}" "" "g.68_69delinsTT" "1 CHH patient (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35657949_35657950delinsAA" "" "likely pathogenic" ""
"0000016990" "1" "77" "9" "35657939" "35657939" "subst" "7.96014E-6" "00015" "RMRP_000053" "g.35657939G>A" "" "{PMID:Horn et al. 2010:20538026}" "" "g.76C>T" "1 CHH patient (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35657942G>A" "" "likely pathogenic" ""
"0000016991" "1" "77" "9" "35657938" "35657938" "subst" "7.96001E-6" "00015" "RMRP_000054" "g.35657938G>A" "" "{PMID:Bacchetta et al. 2009:19626344}" "" "g.77C>T" "1 CHH patient (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35657941G>A" "" "likely pathogenic" ""
"0000016992" "1" "77" "9" "35657936" "35657936" "subst" "1.59215E-5" "00015" "RMRP_000055" "g.35657936C>T" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "79A" "1 American CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657939C>T" "" "likely pathogenic" ""
"0000016993" "1" "77" "9" "35657935" "35657935" "subst" "1.59195E-5" "00015" "RMRP_000056" "g.35657935C>T" "" "{PMID:Hermanns el al. 2006:16838329}" "" "80G>A" "1 American CHH patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657938C>T" "" "likely pathogenic" ""
"0000016994" "1" "77" "9" "35657926" "35657926" "subst" "0" "00015" "RMRP_000057" "g.35657926G>C" "" "{PMID:Hermanns el al. 2006:16838329}" "" "89C>G" "1 American CHH patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657929G>C" "" "likely pathogenic" ""
"0000016995" "1" "77" "9" "35657924" "35657924" "subst" "0" "00015" "RMRP_000058" "g.35657924C>T" "" "{PMID:Hermanns el al. 2006:16838329}" "" "91G>A" "1 Belgian CHH patient (com-het); Variants n.91G>A and n.101C>T are in same haplotype and it is unclear which of them is (or both are) causative" "SUMMARY record" "yes" "" "" "" "" "g.35657927C>T" "" "likely pathogenic" ""
"0000016996" "1" "77" "9" "35657923" "35657923" "dup" "0" "00015" "RMRP_000059" "g.35657923dup" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.92_93insA" "1 Turkish CHH family (com-het)\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "" "" "" "g.35657926dupT" "" "likely pathogenic" ""
"0000016997" "1" "77" "9" "35657922" "35657922" "subst" "0" "00015" "RMRP_000060" "g.35657922C>G" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.93G>C" "1 Dutch CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657925C>G" "" "likely pathogenic" ""
"0000016998" "1" "77" "9" "35657920" "35657921" "del" "0" "00015" "RMRP_000061" "g.35657920_35657921delCT" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "del AG at 94" "1 English CHH family (com-het)\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "" "" "" "g.35657923_35657924delCT" "" "likely pathogenic" ""
"0000016999" "1" "77" "9" "35657918" "35657918" "subst" "0" "00015" "RMRP_000062" "g.35657918C>T" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}, {PMID:Hermanns el al. 2006:16838329}" "" "g.97G>A" "1 German CHH family and 1 American CHH patient (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657921C>T" "" "likely pathogenic" ""
"0000017000" "1" "77" "9" "35657918" "35657919" "dup" "0" "00015" "RMRP_000063" "g.35657918_35657919dup" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Ridanpää et al. 2001:11207361}, {PMID:Bonafe et al. 2005:16244706}" "" "98dupTG; dup TG at 98; g.96_97dupTG" "2 Canadian and 2 Swiss CHH families (all com-het), 1 Turkish CHH family (hom)\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "" "" "" "g.35657921_35657922dupCA" "" "likely pathogenic" ""
"0000017001" "1" "77" "9" "35657899" "35657899" "subst" "0" "00015" "RMRP_000064" "g.35657899T>C" "" "{PMID:Hermanns el al. 2006:16838329}" "" "116A>G" "1 American CHH patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657902T>C" "" "likely pathogenic" ""
"0000017002" "1" "77" "9" "35657897" "35657897" "subst" "3.18345E-5" "00015" "RMRP_000065" "g.35657897T>C" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "118G" "1 German CHH patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657900T>C" "" "likely pathogenic" ""
"0000017003" "1" "77" "9" "35657891" "35657891" "subst" "0" "00015" "RMRP_000066" "g.35657891G>A" "" "{PMID:Hermanns el al. 2006:16838329}" "" "124C>T" "1 American CHH patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657894G>A" "" "likely pathogenic" ""
"0000017004" "1" "77" "9" "35657889" "35657889" "subst" "0" "00015" "RMRP_000067" "g.35657889G>A" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe et al. 2005:16244706}" "" "126T; g126C>T" "1 Arabian CHH family (hom), 1 Italian and 1 Turkish CHH family (both com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657892G>A" "" "likely pathogenic" ""
"0000017005" "1" "77" "9" "35657888" "35657888" "subst" "0" "00015" "RMRP_000068" "g.35657888C>T" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.127G>A" "1 Italian and 1 Canadian CHH family (both com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657891C>T" "" "likely pathogenic" ""
"0000017006" "1" "55" "9" "35657888" "35657888" "subst" "0.00253884" "00015" "RMRP_000069" "g.35657888C>G" "0/200 CON" "{PMID:Hermanns el al. 2006:16838329}" "" "127G>C" "1 American CHH patient (het)" "SUMMARY record" "yes" "" "" "" "" "g.35657891C>G" "" "VUS" ""
"0000017007" "1" "77" "9" "35657869" "35657869" "subst" "4.77593E-5" "00015" "RMRP_000070" "g.35657869C>T" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe et al. 2005:16244706}, {PMID:Kavadas et al. 2008:18804272}" "" "146A; g.146G>A" "1 Chinese CHH family (hom), 1 French CHH family (com-het) and 2 CHH families (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35657872C>T" "" "likely pathogenic" ""
"0000017008" "1" "77" "9" "35657869" "35657869" "subst" "3.97994E-5" "00015" "RMRP_000071" "g.35657869C>G" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.146G>C" "1 Italian CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657872C>G" "" "likely pathogenic" ""
"0000017009" "1" "77" "9" "35657863" "35657863" "subst" "0" "00015" "RMRP_000072" "g.35657863T>C" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "152G" "1 Canadian CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657866T>C" "" "likely pathogenic" ""
"0000017010" "1" "77" "9" "35657861" "35657861" "subst" "7.96077E-6" "00015" "RMRP_000073" "g.35657861C>G" "" "{PMID:Kavadas et al. 2008:18804272}" "" "154G>C" "1 CHH family (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35657864C>G" "" "likely pathogenic" ""
"0000017011" "21" "77" "9" "35657847" "35657847" "subst" "0" "00015" "RMRP_000075" "g.35657847C>T" "0/65 JAP CON" "{PMID:Hirose et al. 2006:16832578}" "" "168G>A" "1 Japanese CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657850C>T" "" "likely pathogenic" ""
"0000017012" "1" "77" "9" "35657835" "35657835" "subst" "4.78774E-5" "00015" "RMRP_000076" "g.35657835C>T" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Hermanns el al. 2006:16838329}" "" "180A" "2 Mexican CHH family, 2 German and 2 American CHH patients (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657838C>T" "" "likely pathogenic" ""
"0000017013" "1" "77" "9" "35657835" "35657836" "ins" "2.39387E-5" "00015" "RMRP_000077" "g.35657835_35657836insG" "" "{PMID:Hermanns el al. 2006:16838329}" "" "179_180insC" "1 American CHH patient (com-het)\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "" "" "" "g.35657838_35657839insG" "" "likely pathogenic" ""
"0000017014" "0" "77" "9" "35657833" "35657833" "subst" "1.59541E-5" "00015" "RMRP_000078" "g.35657833C>T" "0/65 JAP CON" "{PMID:Nakashima et al. 2003:14608646}, {PMID:Hirose et al. 2006:16832578}" "" "182G>A" "1 Japanese CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657836C>T" "" "likely pathogenic" ""
"0000017015" "1" "77" "9" "35657833" "35657833" "subst" "0" "00015" "RMRP_000079" "g.35657833C>G" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Hirose et al. 2006:16832578}" "" "182C" "1 Dutch, 1 English and 1 Japanese CHH family (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657836C>G" "" "likely pathogenic" ""
"0000017016" "1" "77" "9" "35657833" "35657833" "subst" "0" "00015" "RMRP_000080" "g.35657833C>A" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}, {PMID:Hermanns el al. 2006:16838329}" "" "g.182G>T" "1 German CHH family and 1 German CHH patient (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657836C>A" "" "likely pathogenic" ""
"0000017017" "1" "77" "9" "35657822" "35657822" "subst" "4.78141E-5" "00015" "RMRP_000081" "g.35657822C>T" "0/205 CON" "{PMID:Ridanpää et al. 2001:11207361}, {PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe et al. 2005:16244706}, {PMID:Kavadas et al. 2008:18804272}" "" "193G>A; 193A; g.193G>A" "2 Canadian CHH families, 1 German CHH family, 1 English CHH patient and 1 CHH family with undetermined ethnicity (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657825C>T" "" "likely pathogenic" ""
"0000017018" "11" "77" "9" "35657821" "35657821" "dup" "0" "00015" "RMRP_000082" "g.35657821dup" "" "{PMID:Kuijpers et al. 2003:14569125}, {PMID:Hermanns el al. 2006:16838329}" "" "InsT195; 194-195insT" "1 CHH family and 1 American CHH patient (all com-het)\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "" "" "" "g.35657824dupA" "" "likely pathogenic" ""
"0000017019" "1" "77" "9" "35657820" "35657820" "subst" "8.00846E-5" "00015" "RMRP_000083" "g.35657820G>A" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe et al. 2002:11940090}, {PMID:Bonafe et al. 2005:16244706}, {PMID:Hermanns el al. 2006:16838329}, {PMID:Thiel et al. 2007:17701897}" "" "195T; 195C>T; g.195C>T" "2 American and 2 Italian CHH families, 1 Israeli, 1 Brazilian, 1 Swiss and 1 Swiss-Danish CHH family, 1 American and 1 Spanish-Mexican CHH patient (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657823G>A" "" "likely pathogenic" ""
"0000017020" "1" "77" "9" "35657802" "35657802" "subst" "0" "00015" "RMRP_000084" "g.35657802G>C" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}, {PMID:Hermanns el al. 2006:16838329}" "" "g.213C>G" "1 German CHH family and 1 German CHH patient (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657805G>C" "" "likely pathogenic" ""
"0000017021" "1" "77" "9" "35657801" "35657801" "subst" "2.42006E-5" "00015" "RMRP_000085" "g.35657801T>A" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "214T" "1 German CHH patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657804T>A" "" "likely pathogenic" ""
"0000017022" "11" "77" "9" "35657798" "35657798" "subst" "2.39973E-5" "00015" "RMRP_000086" "g.35657798G>A" "0/65 JAP CON" "{PMID:Hirose et al. 2006:16832578}" "" "217C>T" "1 Japanese CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657801G>A" "" "likely pathogenic" ""
"0000017023" "1" "77" "9" "35657797" "35657797" "subst" "8.00115E-6" "00015" "RMRP_000087" "g.35657797T>C" "0/65 JAP CON" "{PMID:Nakashima et al. 2003:14608646}, {PMID:Harada et al. 2005:15780958}, {PMID:Hirose et al. 2006:16832578}" "" "218A>G" "6 Japanese CHH families (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657800T>C" "" "likely pathogenic" ""
"0000017024" "1" "77" "9" "35657795" "35657795" "subst" "0" "00015" "RMRP_000088" "g.35657795A>G" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.220T>C" "1 Italian and 1 German CHH family (both com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657798A>G" "" "likely pathogenic" ""
"0000017025" "1" "77" "9" "35657785" "35657785" "subst" "8.04648E-6" "00015" "RMRP_000089" "g.35657785G>A" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "230T" "1 Polish CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657788G>A" "" "likely pathogenic" ""
"0000017026" "1" "77" "9" "35657779" "35657779" "subst" "2.41608E-5" "00015" "RMRP_000090" "g.35657779T>C" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "236G" "1 American CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657782T>C" "" "likely pathogenic" ""
"0000017027" "1" "77" "9" "35657777" "35657777" "subst" "0.000346489" "00015" "RMRP_000091" "g.35657777G>A" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe et al. 2002:11940090}, {PMID:Bonafe et al. 2005:16244706}" "" "238T; 238C>T; g.238C>T" "2 Austrian CHH families, 1 American, 1 Australian and 1 Israeli CHH family (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657780G>A" "" "likely pathogenic" ""
"0000017028" "11" "77" "9" "35657775" "35657775" "subst" "2.41963E-5" "00015" "RMRP_000092" "g.35657775T>G" "" "{PMID:Roifman et al. 2006:16630949}, {PMID:Kavadas et al. 2008:18804272}" "" "A240C; 240A>C" "1 CHH family and 1 CHH patient with undetermined ethnicity (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657778T>G" "" "likely pathogenic" ""
"0000017029" "1" "77" "9" "35657773" "35657773" "subst" "0.000113055" "00015" "RMRP_000093" "g.35657773T>C" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe et al. 2005:16244706}, {PMID:Kavadas et al. 2008:18804272}" "" "242G; g.242A>G; 242A>G" "1 Brazilian and 2 Canadian CHH families (all com-het) and 2 CHH families (com-het) with undetermined ethnicity" "SUMMARY record" "yes" "" "" "" "" "g.35657776T>C" "" "likely pathogenic" ""
"0000017030" "1" "77" "9" "35657772" "35657772" "subst" "0" "00015" "RMRP_000094" "g.35657772G>A" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "243T" "1 Canadian CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657775G>A" "" "likely pathogenic" ""
"0000017031" "1" "77" "9" "35657771" "35657771" "subst" "8.09337E-6" "00015" "RMRP_000095" "g.35657771C>T" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.244G>A" "1 German CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657774C>T" "" "likely pathogenic" ""
"0000017032" "1" "77" "9" "35657767" "35657767" "subst" "0" "00015" "RMRP_000096" "g.35657767G>A" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.248C>T" "1 Canadian CHH family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657770G>A" "" "likely pathogenic" ""
"0000017033" "1" "77" "9" "35657755" "35657755" "subst" "0" "00015" "RMRP_000097" "g.35657755G>C" "0/100 CAU CON" "{PMID:Bonafe et al. 2005:16244706}" "" "g.260C>G" "1 Italian CHH family (com-het)\r\nVariant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "" "" "" "g.35657758G>C" "" "likely pathogenic" ""
"0000017034" "1" "77" "9" "35657754" "35657754" "subst" "8.36148E-6" "00015" "RMRP_000098" "g.35657754G>A" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}, {PMID:Bonafe et al. 2005:16244706}" "" "261T; g.261C>T" "1 Israeli and 1 Trinidadian CHH family (both homo)" "SUMMARY record" "yes" "" "" "" "" "g.35657757G>A" "" "likely pathogenic" ""
"0000017035" "1" "77" "9" "35657753" "35657753" "subst" "0" "00015" "RMRP_000099" "g.35657753C>G" "" "{PMID:Hermanns el al. 2006:16838329}" "" "262G>C" "2 German CHH patients (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.35657756C>G" "" "likely pathogenic" ""
"0000017036" "1" "77" "9" "35657751" "35657751" "subst" "0" "00015" "RMRP_000100" "g.35657751G>T" "0/280 CON" "{PMID:Ridanpää et al. 2002:12107819}" "" "264A" "1 Austrian CHH family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.35657754G>T" "" "likely pathogenic" ""
"0000017037" "1" "77" "9" "35657750" "35657759" "del" "0" "00015" "RMRP_000101" "g.35657750_35657759delAGCCGCGCTG" "" "{PMID:Hermanns el al. 2006:16838329}, {PMID:Thiel et al. 2007:17701897}" "" "256_265delCAGCGCGGCT; g.254_263delCTCAGGCGCGG" "1 Spanish-Mexican CHH family and 2 American CHH patients (all com-het)\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "" "" "" "g.35657753_35657762delAGCCGCGCTG" "" "likely pathogenic" ""
"0000017958" "0" "77" "9" "35657914" "35657914" "subst" "0" "00015" "RMRP_000102" "g.35657914G>A" "" "{PMID:Hermanns el al. 2006:16838329}" "" "101C>T" "1 Belgian CHH patient (com-het); Variants n.91G>A and n.101C>T are in same haplotype and it is unclear which of them is (or both are) causative" "SUMMARY record" "yes" "" "" "" "" "g.35657917G>A" "" "likely pathogenic" ""
"0000039758" "21" "77" "9" "35658039" "35658040" "ins" "0" "00015" "RMRP_000103" "g.35658039_35658040insGAGGAGTAGT" "" "{PMID:Crahes et al. 2013:23643676}" "" "M29916.1: g.726_727insCTCACTACTC" "1 patient with CHH (com-het); 10-nucleotide insertion at position -18 in the promoter region of the RMRP gene" "SUMMARY record" "yes" "" "0" "" "" "g.35658042_35658043insGAGGAGTAGT" "" "likely pathogenic" ""
"0000538100" "0" "50" "9" "35657748" "35657748" "subst" "0.000280479" "01943" "CA9_000003" "g.35657748A>G" "" "" "" "RMRP(NR_003051.3):n.268T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657751A>G" "" "VUS" ""
"0000538101" "0" "50" "9" "35657751" "35657751" "subst" "3.3699E-5" "01943" "CA9_000004" "g.35657751G>A" "" "" "" "RMRP(NR_003051.3):n.265C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657754G>A" "" "VUS" ""
"0000538102" "0" "10" "9" "35657838" "35657838" "subst" "0.115057" "02327" "CA9_000005" "g.35657838G>A" "" "" "" "RMRP(NR_003051.3):n.178C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657841G>A" "" "benign" ""
"0000538103" "0" "10" "9" "35657838" "35657838" "subst" "0.115057" "02326" "CA9_000005" "g.35657838G>A" "" "" "" "RMRP(NR_003051.3):n.178C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657841G>A" "" "benign" ""
"0000538104" "0" "10" "9" "35657859" "35657859" "subst" "0.115127" "02327" "CA9_000006" "g.35657859C>G" "" "" "" "RMRP(NR_003051.3):n.157G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657862C>G" "" "benign" ""
"0000538105" "0" "30" "9" "35657859" "35657859" "subst" "0.115127" "02326" "CA9_000006" "g.35657859C>G" "" "" "" "RMRP(NR_003051.3):n.157G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657862C>G" "" "likely benign" ""
"0000538106" "0" "50" "9" "35657946" "35657946" "subst" "0" "01943" "CA9_000007" "g.35657946C>A" "" "" "" "RMRP(NR_003051.3):n.70G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657949C>A" "" "VUS" ""
"0000538107" "0" "50" "9" "35657947" "35657947" "subst" "0" "01943" "CA9_000008" "g.35657947C>A" "" "" "" "RMRP(NR_003051.3):n.69G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657950C>A" "" "VUS" ""
"0000538108" "0" "90" "9" "35657952" "35657952" "subst" "2.38827E-5" "01943" "RMRP_000050" "g.35657952G>A" "" "" "" "RMRP(NR_003051.3):n.64C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657955G>A" "" "pathogenic" ""
"0000538109" "0" "50" "9" "35657957" "35657958" "ins" "0.000230866" "01943" "CA9_000009" "g.35657957_35657958insT" "" "" "" "RMRP(NR_003051.3):n.58_59insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657960_35657961insT" "" "VUS" ""
"0000538110" "0" "50" "9" "35657969" "35657969" "subst" "7.96343E-6" "01943" "CA9_000010" "g.35657969C>T" "" "" "" "RMRP(NR_003051.3):n.47G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657972C>T" "" "VUS" ""
"0000612106" "0" "50" "9" "35657803" "35657803" "subst" "3.22419E-5" "02327" "CA9_000016" "g.35657803C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657806C>T" "" "VUS" ""
"0000612107" "0" "50" "9" "35657857" "35657857" "subst" "5.57263E-5" "01943" "CA9_000017" "g.35657857T>C" "" "" "" "RMRP(NR_003051.3):n.159A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657860T>C" "" "VUS" ""
"0000612108" "0" "50" "9" "35657920" "35657920" "subst" "0" "01943" "CA9_000018" "g.35657920C>A" "" "" "" "RMRP(NR_003051.3):n.96G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657923C>A" "" "VUS" ""
"0000612109" "0" "90" "9" "35657945" "35657945" "subst" "0.000883603" "01943" "RMRP_000005" "g.35657945T>C" "" "" "" "RMRP(NR_003051.3):n.71A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657948T>C" "" "pathogenic" ""
"0000612110" "0" "90" "9" "35657952" "35657952" "subst" "2.38827E-5" "02327" "RMRP_000050" "g.35657952G>A" "" "" "" "RMRP(NR_003051.3):n.64C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657955G>A" "" "pathogenic" ""
"0000612111" "0" "30" "9" "35657962" "35657962" "subst" "0.00286597" "01943" "CA9_000019" "g.35657962G>A" "" "" "" "RMRP(NR_003051.3):n.54C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657965G>A" "" "likely benign" ""
"0000622263" "0" "30" "9" "35657888" "35657888" "subst" "0.00253884" "01943" "RMRP_000069" "g.35657888C>G" "" "" "" "RMRP(NR_003051.3):n.128G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35657891C>G" "" "likely benign" ""
"0000690538" "0" "90" "9" "35657889" "35657889" "subst" "0" "02327" "RMRP_000067" "g.35657889G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000690539" "0" "90" "9" "35657914" "35657914" "subst" "0" "02327" "RMRP_000102" "g.35657914G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000722514" "0" "90" "9" "35657869" "35657869" "subst" "4.77593E-5" "01943" "RMRP_000070" "g.35657869C>T" "" "" "" "RMRP(NR_003051.3):n.147G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000846500" "3" "70" "9" "35657945" "35657945" "subst" "0.000883603" "00000" "RMRP_000005" "g.35657945T>C" "" "{PMID:Alabdullatif 2017:27717089}" "" "RMPR c.71A>G (RNA gene - no protein produced)" "homozygous" "Germline" "yes" "" "0" "" "" "g.35657948T>C" "" "likely pathogenic" ""
"0000861640" "0" "30" "9" "35657962" "35657962" "subst" "0.00286597" "02326" "CA9_000019" "g.35657962G>A" "" "" "" "RMRP(NR_003051.3):n.54C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888830" "0" "30" "9" "35657752" "35657752" "subst" "0" "02325" "RMRP_000104" "g.35657752C>T" "" "" "" "RMRP(NR_003051.3):n.264G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888831" "0" "10" "9" "35657838" "35657838" "subst" "0.115057" "02325" "CA9_000005" "g.35657838G>A" "" "" "" "RMRP(NR_003051.3):n.178C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000888832" "0" "10" "9" "35657859" "35657859" "subst" "0.115127" "02325" "CA9_000006" "g.35657859C>G" "" "" "" "RMRP(NR_003051.3):n.157G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000925044" "0" "30" "9" "35657962" "35657962" "subst" "0.00286597" "02325" "CA9_000019" "g.35657962G>A" "" "" "" "RMRP(NR_003051.3):n.54C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929600" "0" "70" "9" "35657916" "35657916" "subst" "8.75489E-5" "02325" "RMRP_000105" "g.35657916G>A" "" "" "" "RMRP(NR_003051.3):n.100C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000949278" "0" "50" "9" "35657757" "35657757" "subst" "0" "02325" "RMRP_000106" "g.35657757C>A" "" "" "" "RMRP(NR_003051.3):n.259G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949279" "0" "90" "9" "35657945" "35657945" "subst" "0.000883603" "02327" "RMRP_000005" "g.35657945T>C" "" "" "" "RMRP(NR_003051.3):n.71A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000978692" "0" "90" "9" "35657777" "35657777" "subst" "0.000346489" "02327" "RMRP_000091" "g.35657777G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000997858" "0" "50" "9" "35657840" "35657840" "subst" "0.00082825" "02325" "RMRP_000107" "g.35657840C>T" "" "" "" "RMRP(NR_003051.3):n.176G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000997859" "0" "50" "9" "35657870" "35657870" "subst" "0.00012736" "02325" "RMRP_000108" "g.35657870G>A" "" "" "" "RMRP(NR_003051.3):n.146C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014538" "0" "30" "9" "35657798" "35657799" "ins" "0" "02325" "RMRP_000109" "g.35657798_35657799insTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC" "" "" "" "RMRP(NR_003051.3):n.217_218ins70" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001014539" "0" "50" "9" "35657906" "35657906" "subst" "7.95862E-6" "02325" "RMRP_000110" "g.35657906G>A" "" "" "" "RMRP(NR_003051.3):n.110C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 RMRP
## Count = 137
"{{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}}"
"0000016149" "00000246" "99" "0" "" "0" "" "n.-20_-19insTCTGTGAAGCTGGGGAC" "r.0" "-" ""
"0000016150" "00000246" "77" "0" "" "0" "" "n.-24_-18dupACTACTC" "r.?" "-" ""
"0000016151" "00000246" "99" "0" "" "0" "" "n.-10_-9insTACTCTGTGAAGTACTCTGTGAAGCTGA" "r.0" "-" ""
"0000016153" "00000246" "77" "0" "" "0" "" "n.-22_-13dupTACTCTGTGA" "r.?" "-" ""
"0000016154" "00000246" "99" "71" "0" "71" "0" "n.71A>G" "r.71a>g" "-" ""
"0000016186" "00000246" "77" "155" "0" "155" "0" "n.155G>T" "r.155g>u" "-" ""
"0000016187" "00000246" "77" "212" "0" "212" "0" "n.212C>G" "r.212c>g" "-" ""
"0000016188" "00000246" "77" "263" "0" "263" "0" "n.263G>T" "r.263g>u" "-" ""
"0000016189" "00000246" "77" "0" "" "0" "" "n.-23_-14dupCTACTCTGTG" "r.?" "-" ""
"0000016190" "00000246" "77" "0" "" "0" "" "n.-22_-14dupTACTCTGTG" "r.?" "-" ""
"0000016191" "00000246" "99" "0" "" "0" "" "n.-24_-10ACTACTCTGTGAAGC[3]" "r.0" "-" ""
"0000016192" "00000246" "77" "0" "" "0" "" "n.-19_-13dupTCTGTGA" "r.?" "-" ""
"0000016193" "00000246" "77" "0" "" "0" "" "n.-24_-12dup" "r.?" "-" ""
"0000016194" "00000246" "99" "0" "" "0" "" "n.-13_-12insATCTGTG" "r.0" "-" ""
"0000016195" "00000246" "77" "0" "" "0" "" "n.-24_-10dupACTACTCTGTGAAGC" "r.?" "-" ""
"0000016196" "00000246" "77" "0" "" "0" "" "n.-21_-9dupACTCTGTGAAGCT" "r.?" "-" ""
"0000016197" "00000246" "77" "0" "" "0" "" "n.-22-6dupTACTCTGTGAAGCTGAG" "r.?" "-" ""
"0000016198" "00000246" "77" "0" "" "0" "" "n.*6T>C" "r.*6u>c" "-" ""
"0000016199" "00000246" "77" "5" "0" "5" "0" "n.5C>T" "r.5c>u" "-" ""
"0000016200" "00000246" "77" "10" "0" "10" "0" "n.10T>C" "r.10u>c" "-" ""
"0000016201" "00000246" "77" "0" "" "0" "" "n.-20_-13CTCTGTGA[3]" "r.?" "-" ""
"0000016202" "00000246" "77" "0" "" "0" "" "n.-24_-9ACTACTCTGTGAAGCT[3]" "r.?" "-" ""
"0000016203" "00000246" "77" "0" "" "0" "" "n.-24_-4dupACTACTCTGTGAAGCTGAGGA" "r.?" "-" ""
"0000016204" "00000246" "77" "0" "" "0" "" "n.-15_-6dupTGAAGCTGAG" "r.?" "-" ""
"0000016205" "00000246" "77" "0" "" "0" "" "n.-13_-6dupAAGCTGAG" "r.?" "-" ""
"0000016206" "00000246" "99" "0" "" "0" "" "n.-6_-5insCCTGAG" "r.0" "-" ""
"0000016207" "00000246" "77" "0" "" "0" "" "n.-25_-4dupTACTACTCTGTGAAGCTGAGGA" "r.?" "-" ""
"0000016208" "00000246" "77" "0" "" "0" "" "n.-10_-4delCTGAGGAins28" "r.?" "-" ""
"0000016209" "00000246" "77" "0" "" "0" "" "n.-22_-3dupTACTCTGTGAAGCTGAGGAC" "r.?" "-" ""
"0000016210" "00000246" "77" "0" "" "0" "" "n.-19_-3dupTCTGTGAAGCTGAGGAC" "r.?" "-" ""
"0000016211" "00000246" "77" "0" "" "0" "" "n.-4_-3insGGACGTGGTT" "r.?" "-" ""
"0000016212" "00000246" "77" "0" "" "0" "" "n.-13_-2dupAAGCTGAGGACG" "r.?" "-" ""
"0000016213" "00000246" "77" "0" "" "0" "" "n.-8_-1dupGAGGACGT" "r.?" "-" ""
"0000016219" "00000246" "77" "0" "" "0" "" "n.-13_1dupAAGCTGAGGACGTG" "r.?" "-" ""
"0000016220" "00000246" "77" "0" "" "0" "" "n.-20_1dupCTCTGTGAAGCTGAGGACGTG" "r.?" "-" ""
"0000016221" "00000246" "77" "0" "" "0" "" "n.-15_1dupTGAAGCTGAGGACGTG" "r.?" "-" ""
"0000016222" "00000246" "77" "0" "" "0" "" "n.-7_1dupAGGACGTG" "r.?" "-" ""
"0000016223" "00000246" "77" "0" "" "0" "" "n.-3_1dupCGTG" "r.?" "-" ""
"0000016224" "00000246" "77" "0" "" "0" "" "n.-14_3dupGAAGCTGAGGACGTGGT" "r.?" "-" ""
"0000016225" "00000246" "77" "0" "" "0" "" "n.-6_4dupGGACGTGGTT" "r.?" "-" ""
"0000016978" "00000246" "55" "12" "0" "12" "0" "n.12A>G" "r.12a>g" "-" ""
"0000016979" "00000246" "77" "15" "0" "15" "0" "n.15G>T" "r.15g>u" "-" ""
"0000016980" "00000246" "77" "19" "0" "19" "0" "n.19G>C" "r.19g>c" "-" ""
"0000016981" "00000246" "77" "28" "0" "28" "0" "n.28G>A" "r.28g>a" "-" ""
"0000016982" "00000246" "77" "36" "0" "36" "0" "n.36C>T" "r.36c>u" "-" ""
"0000016983" "00000246" "77" "41" "0" "41" "0" "n.41G>A" "r.41g>a" "-" ""
"0000016984" "00000246" "77" "46" "0" "54" "0" "n.46_54dupTGTTCCTCC" "r.46_54dupuguuccucc" "-" ""
"0000016985" "00000246" "77" "57" "0" "58" "0" "n.57_58insTTCCGCCT" "r.57_58insuuccgccu" "-" ""
"0000016986" "00000246" "77" "62" "0" "62" "0" "n.62G>A" "r.62g>a" "-" ""
"0000016987" "00000246" "77" "64" "0" "64" "0" "n.64C>T" "r.64c>u" "-" ""
"0000016988" "00000246" "77" "65" "0" "65" "0" "n.65T>C" "r.65u>c" "-" ""
"0000016989" "00000246" "77" "69" "0" "70" "0" "n.69_70delinsTT" "r.69_70delinsuu" "-" ""
"0000016990" "00000246" "77" "77" "0" "77" "0" "n.77C>T" "r.77c>u" "-" ""
"0000016991" "00000246" "77" "78" "0" "78" "0" "n.78C>T" "r.78c>u" "-" ""
"0000016992" "00000246" "77" "80" "0" "80" "0" "n.80G>A" "r.80g>a" "-" ""
"0000016993" "00000246" "77" "81" "0" "81" "0" "n.81G>A" "r.81g>a" "-" ""
"0000016994" "00000246" "77" "90" "0" "90" "0" "n.90C>G" "r.90c>g" "-" ""
"0000016995" "00000246" "77" "92" "0" "92" "0" "n.92G>A" "r.92g>a" "-" ""
"0000016996" "00000246" "77" "93" "0" "93" "0" "n.93dupA" "r.93dupa" "-" ""
"0000016997" "00000246" "77" "94" "0" "94" "0" "n.94G>C" "r.94g>c" "-" ""
"0000016998" "00000246" "77" "95" "0" "96" "0" "n.95_96delAG" "r.95_96delag" "-" ""
"0000016999" "00000246" "77" "98" "0" "98" "0" "n.98G>A" "r.98g>a" "-" ""
"0000017000" "00000246" "77" "97" "0" "98" "0" "n.97_98dupTG" "r.97_98dupug" "-" ""
"0000017001" "00000246" "77" "117" "0" "117" "0" "n.117A>G" "r.117a>g" "-" ""
"0000017002" "00000246" "77" "119" "0" "119" "0" "n.119A>G" "r.119a>g" "-" ""
"0000017003" "00000246" "77" "125" "0" "125" "0" "n.125C>T" "r.125c>u" "-" ""
"0000017004" "00000246" "77" "127" "0" "127" "0" "n.127C>T" "r.127c>u" "-" ""
"0000017005" "00000246" "77" "128" "0" "128" "0" "n.128G>A" "r.128g>a" "-" ""
"0000017006" "00000246" "55" "128" "0" "128" "0" "n.128G>C" "r.128g>c" "-" ""
"0000017007" "00000246" "77" "147" "0" "147" "0" "n.147G>A" "r.147g>a" "-" ""
"0000017008" "00000246" "77" "147" "0" "147" "0" "n.147G>C" "r.147g>c" "-" ""
"0000017009" "00000246" "77" "153" "0" "153" "0" "n.153A>G" "r.153a>g" "-" ""
"0000017010" "00000246" "77" "155" "0" "155" "0" "n.155G>C" "r.155g>c" "-" ""
"0000017011" "00000246" "77" "169" "0" "169" "0" "n.169G>A" "r.169g>a" "-" ""
"0000017012" "00000246" "77" "181" "0" "181" "0" "n.181G>A" "r.181g>a" "-" ""
"0000017013" "00000246" "77" "180" "0" "181" "0" "n.180_181insC" "r.180_181insc" "-" ""
"0000017014" "00000246" "77" "183" "0" "183" "0" "n.183G>A" "r.183g>a" "-" ""
"0000017015" "00000246" "77" "183" "0" "183" "0" "n.183G>C" "r.183g>c" "-" ""
"0000017016" "00000246" "77" "183" "0" "183" "0" "n.183G>T" "r.183g>u" "-" ""
"0000017017" "00000246" "77" "194" "0" "194" "0" "n.194G>A" "r.194g>a" "-" ""
"0000017018" "00000246" "77" "195" "0" "195" "0" "n.195dupT" "r.195dupu" "-" ""
"0000017019" "00000246" "77" "196" "0" "196" "0" "n.196C>T" "r.196c>u" "-" ""
"0000017020" "00000246" "77" "214" "0" "214" "0" "n.214C>G" "r.214c>g" "-" ""
"0000017021" "00000246" "77" "215" "0" "215" "0" "n.215A>T" "r.215a>u" "-" ""
"0000017022" "00000246" "77" "218" "0" "218" "0" "n.218C>T" "r.218c>u" "-" ""
"0000017023" "00000246" "77" "219" "0" "219" "0" "n.219A>G" "r.219a>g" "-" ""
"0000017024" "00000246" "77" "221" "0" "221" "0" "n.221T>C" "r.221u>c" "-" ""
"0000017025" "00000246" "77" "231" "0" "231" "0" "n.231C>T" "r.231c>u" "-" ""
"0000017026" "00000246" "77" "237" "0" "237" "0" "n.237A>G" "r.237a>g" "-" ""
"0000017027" "00000246" "77" "239" "0" "239" "0" "n.239C>T" "r.239c>u" "-" ""
"0000017028" "00000246" "77" "241" "0" "241" "0" "n.241A>C" "r.241a>c" "-" ""
"0000017029" "00000246" "77" "243" "0" "243" "0" "n.243A>G" "r.243a>g" "-" ""
"0000017030" "00000246" "77" "244" "0" "244" "0" "n.244C>T" "r.244c>u" "-" ""
"0000017031" "00000246" "77" "245" "0" "245" "0" "n.245G>A" "r.245g>a" "-" ""
"0000017032" "00000246" "77" "249" "0" "249" "0" "n.249C>T" "r.249c>u" "-" ""
"0000017033" "00000246" "77" "261" "0" "261" "0" "n.261C>G" "r.261c>g" "-" ""
"0000017034" "00000246" "77" "262" "0" "262" "0" "n.262C>T" "r.262c>u" "-" ""
"0000017035" "00000246" "77" "263" "0" "263" "0" "n.263G>C" "r.263g>c" "-" ""
"0000017036" "00000246" "77" "265" "0" "265" "0" "n.265C>A" "r.265c>a" "-" ""
"0000017037" "00000246" "77" "257" "0" "266" "0" "n.257_266delCAGCGCGGCT" "r.257_266delcagcgcggcu" "-" ""
"0000017958" "00000246" "77" "102" "0" "102" "0" "n.102C>T" "r.102c>u" "-" ""
"0000039758" "00000246" "77" "0" "" "0" "" "n.-18_-17insCTCACTACTC" "r.?" "-" ""
"0000538100" "00000246" "50" "268" "0" "268" "0" "n.268T>C" "r.(?)" "-" ""
"0000538101" "00000246" "50" "265" "0" "265" "0" "n.265C>T" "r.(?)" "-" ""
"0000538102" "00000246" "10" "178" "0" "178" "0" "n.178C>T" "r.(?)" "-" ""
"0000538103" "00000246" "10" "178" "0" "178" "0" "n.178C>T" "r.(?)" "-" ""
"0000538104" "00000246" "10" "157" "0" "157" "0" "n.157G>C" "r.(?)" "-" ""
"0000538105" "00000246" "30" "157" "0" "157" "0" "n.157G>C" "r.(?)" "-" ""
"0000538106" "00000246" "50" "70" "0" "70" "0" "n.70G>T" "r.(?)" "-" ""
"0000538107" "00000246" "50" "69" "0" "69" "0" "n.69G>T" "r.(?)" "-" ""
"0000538108" "00000246" "90" "64" "0" "64" "0" "n.64C>T" "r.(?)" "-" ""
"0000538109" "00000246" "50" "58" "0" "59" "0" "n.58_59insA" "r.(?)" "-" ""
"0000538110" "00000246" "50" "47" "0" "47" "0" "n.47G>A" "r.(?)" "-" ""
"0000612106" "00000246" "50" "213" "0" "213" "0" "n.213G>A" "r.(?)" "-" ""
"0000612107" "00000246" "50" "159" "0" "159" "0" "n.159A>G" "r.(?)" "-" ""
"0000612108" "00000246" "50" "96" "0" "96" "0" "n.96G>T" "r.(?)" "-" ""
"0000612109" "00000246" "90" "71" "0" "71" "0" "n.71A>G" "r.(?)" "-" ""
"0000612110" "00000246" "90" "64" "0" "64" "0" "n.64C>T" "r.(?)" "-" ""
"0000612111" "00000246" "30" "54" "0" "54" "0" "n.54C>T" "r.(?)" "-" ""
"0000622263" "00000246" "30" "128" "0" "128" "0" "n.128G>C" "r.(?)" "-" ""
"0000690538" "00000246" "90" "127" "0" "127" "0" "n.127C>T" "r.(?)" "-" ""
"0000690539" "00000246" "90" "102" "0" "102" "0" "n.102C>T" "r.(?)" "-" ""
"0000722514" "00000246" "90" "147" "0" "147" "0" "n.147G>A" "r.(?)" "-" ""
"0000846500" "00000246" "70" "71" "0" "71" "0" "n.71A>G" "r.(?)" "p.0" ""
"0000861640" "00000246" "30" "54" "0" "54" "0" "n.54C>T" "r.(?)" "-" ""
"0000888830" "00000246" "30" "264" "0" "264" "0" "n.264G>A" "r.(?)" "-" ""
"0000888831" "00000246" "10" "178" "0" "178" "0" "n.178C>T" "r.(?)" "-" ""
"0000888832" "00000246" "10" "157" "0" "157" "0" "n.157G>C" "r.(?)" "-" ""
"0000925044" "00000246" "30" "54" "0" "54" "0" "n.54C>T" "r.(?)" "-" ""
"0000929600" "00000246" "70" "100" "0" "100" "0" "n.100C>T" "r.(?)" "-" ""
"0000949278" "00000246" "50" "259" "0" "259" "0" "n.259G>T" "r.(?)" "-" ""
"0000949279" "00000246" "90" "71" "0" "71" "0" "n.71A>G" "r.(?)" "-" ""
"0000978692" "00000246" "90" "239" "0" "239" "0" "n.239C>T" "r.(?)" "-" ""
"0000997858" "00000246" "50" "176" "0" "176" "0" "n.176G>A" "r.(?)" "-" ""
"0000997859" "00000246" "50" "146" "0" "146" "0" "n.146C>T" "r.(?)" "-" ""
"0001014538" "00000246" "30" "217" "0" "218" "0" "n.217_218insGCAGTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTGTTTTTTGTTCCCGAGACCA" "r.(?)" "-" ""
"0001014539" "00000246" "50" "110" "0" "110" "0" "n.110C>T" "r.(?)" "-" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000409346" "0000846500"