### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRKG2) # 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}}" "PRKG2" "protein kinase, cGMP-dependent, type II" "4" "q13.1-q21.1" "unknown" "NC_000004.11" "UD_133033838061" "" "http://www.LOVD.nl/PRKG2" "" "1" "9416" "5593" "601591" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PRKG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-16 19:01:10" "00000" "2025-05-05 21:14:00" ## 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}}" "00016850" "PRKG2" "protein kinase, cGMP-dependent, type II" "001" "NM_006259.1" "" "NP_006250.1" "" "" "" "-14" "3314" "2289" "82126215" "82009837" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01528" "PSACH" "pseudoachondroplasia (PSACH)" "AD" "177170" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-22 09:56:43" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05369" "SMD" "dysplasia, spondylometaphyseal (SMD)" "" "" "" "" "" "00006" "2017-12-29 15:48:06" "" "" "06883" "AMD4" "dysplasia, acromesomelic, type 4" "" "619636" "" "" "" "00006" "2021-12-16 17:29:30" "" "" "06884" "SMDP" "dysplasia, spondylometaphyseal, Pagnamenta type" "" "619638" "" "" "" "00006" "2021-12-16 17:31:03" "" "" "06885" "AMD" "dysplasia, acromesomelic" "" "" "" "" "" "00006" "2021-12-16 18:32:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PRKG2" "06883" "PRKG2" "06884" "PRKG2" "06885" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00396708" "" "" "" "1" "" "00006" "{PMID:Díaz-Gonzalez 2021:33106379}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "Pat1" "00396709" "" "" "" "1" "" "00006" "{PMID:Díaz-Gonzalez 2021:33106379}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "Pat2" "00418528" "" "" "" "3" "" "00006" "{PMID:Pagnamenta 2022:34782440}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam1PatIV3" "00418529" "" "" "00418528" "1" "" "00006" "{PMID:Pagnamenta 2022:34782440}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam1PatIV6" "00418530" "" "" "00418528" "1" "" "00006" "{PMID:Pagnamenta 2022:34782440}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam1PatIV7" "00418531" "" "" "" "1" "" "00006" "{PMID:Pagnamenta 2022:34782440}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam2PatV3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00396708" "06885" "00396709" "06885" "00418528" "05369" "00418529" "05296" "00418529" "05369" "00418530" "05369" "00418531" "01528" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01528, 05296, 05369, 06883, 06884, 06885 ## Count = 7 "{{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}}" "0000289869" "06885" "00396708" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., severe short stature, adult height 130cm (Est); acromesomelia; bowed forearm; brachydactyly; broad hypoplasia hand phalanges; hyperlordosis; no talipes equinovarus; normal toes; no nail aplasia/hypoplasia; no facial dysmorphism; radiology normal skull, short pedicles, mild acetabular irregularity, mesomelia, mildly bowed radius and ulna, relatively large epiphyses, metaphyseal irregularity, brachydactyly, advanced bone age, premature fusion epiphyses hands and knees" "" "" "" "" "" "" "" "AMD4" "acromesomelic dysplasia" "0000289870" "06885" "00396709" "00006" "Familial, autosomal recessive" "07y" "see paper; ..., severe short stature; acromesomelia; mild bowed forearm; brachydactyly; hypoplasia hand phalanges; no hyperlordosis; no talipes equinovarus; toes short, broad, sandal gap; no nail aplasia/hypoplasia; triangular face, broad nasal bridge, pointed chin, synophrys, hypertelorism low set ears; hirsutism; radiology normal skull, anterior beaking vertebral bodies of thoracolumbar junction, mild acetabular irregularity, mesomelia, mildly bowed radius and ulna, relatively large epiphyses, metaphyseal irregularity, brachydactyly, advanced bone age, premature fusion epiphyses hands and knees" "" "" "" "" "" "" "" "AMD4" "acromesomelic dysplasia" "0000309864" "05369" "00418528" "00006" "Familial, autosomal recessive" "26y" "birth weight 2700g; normal developmental milestones; <4y-normal groth/feeding; height 158.5 cm (-2.5 SD); mild rhizomelia upper and lower limbs; OFC 50-75th; mild kyphosis, thoracic region; broad thumbs, short 4-5th metacarpels; no acromelia; flat feet; normal face; normal palate; platyspondyly; (widespread metaphyseal changes; delayed bone age; normal bone density" "13y" "" "" "" "" "" "" "" "spondylometaphyseal dysplasia" "0000309865" "05369" "00418529" "00006" "Familial, autosomal recessive" "22y" "hypotonia; normal developmental milestones; poor feeder; height 140.8 cm (-4.9 SD); moderate rhizomelia upper and lower limbs; OFC 50-75th; mild kyphosis, mid-thoracic; broad thumb; no acromelia; triangular face (when younger); multiple Wormian bones; normal palate; platyspondyly; metaphyseal changes; slender bones with thin cortices, mild bowing femur, small irregular femoral heads; multiple fractures (arm as infant, wrist aged 8y, wedge T6 vertebra), blue sclerae" "00y08m" "" "poor weight gain, unusual limb proportions, hypotonia, large head" "" "" "" "" "" "spondylometaphyseal dysplasia" "0000309866" "05369" "00418530" "00006" "Familial, autosomal recessive" "15y" "normal developmental milestones; height 143.8 cm (-3.11 SD); mild rhizomelia upper and lower limbs; OFC 50-75th; no acromelia; mild shortening toes; normal face; normal palate; mild platyspondyly; metaphyseal changes, broadened and irregular; normal bone density" "2y" "" "short stature" "" "" "" "" "" "spondylometaphyseal dysplasia" "0000309867" "01528" "00418531" "00006" "Familial, autosomal recessive" "10y" "no hypotonia; normal developmental milestones; normal groth/feeding; height 121 cm (-2.5 SD); rhizomelic shortening upper and lower extremities; OFC 56cm; no kyphosis; short, broad fingers; no acromelia; short broad toes; broad nasal bridge, thick eyebrows, synophrys, prominent chin; no cranial anomalies; normal palate; platyspondyly; metaphyseal changes; short metacarp and metatarsal, disostosis peripheral; 9y-no delayed bone age; constipation, umbilical hernia in the past (now normal), hypertrichosis" "3y" "" "short stature, dysmorphism" "" "" "" "" "" "pseudoachondroplasia" "0000309868" "05296" "00418529" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "osteogenesis Imperfecta type 1" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000397951" "00396708" "1" "00006" "00006" "2021-12-16 19:06:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397952" "00396709" "1" "00006" "00006" "2021-12-16 19:13:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000419823" "00418528" "1" "00006" "00006" "2022-09-29 19:58:49" "" "" "SEQ" "DNA" "" "WES" "0000419824" "00418529" "1" "00006" "00006" "2022-09-29 19:58:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000419825" "00418530" "1" "00006" "00006" "2022-09-29 19:58:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000419826" "00418531" "1" "00006" "00006" "2022-09-29 19:58:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 22 "{{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}}" "0000301232" "0" "10" "4" "82013660" "82013667" "del" "0" "02326" "PRKG2_000001" "g.82013660_82013667del" "" "" "" "PRKG2(NM_006259.2):c.2127-21_2127-14delCCTTCCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81092506_81092513del" "" "benign" "" "0000330028" "0" "70" "4" "82126026" "82126026" "subst" "0" "01804" "PRKG2_000003" "g.82126026G>T" "" "" "" "PRKG2(NM_006259.1):c.176C>A (p.(Ser59Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81204872G>T" "" "likely pathogenic" "" "0000523333" "0" "30" "4" "82056446" "82056446" "subst" "0" "01804" "PRKG2_000004" "g.82056446T>C" "" "" "" "PRKG2(NM_006259.1):c.1639A>G (p.(Ser547Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81135292T>C" "" "likely benign" "" "0000609305" "0" "30" "4" "82095941" "82095941" "subst" "0.000123607" "01804" "PRKG2_000006" "g.82095941A>G" "" "" "" "PRKG2(NM_006259.1):c.628+6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81174787A>G" "" "likely benign" "" "0000609306" "0" "50" "4" "82096035" "82096035" "subst" "0.00186576" "01804" "PRKG2_000007" "g.82096035C>T" "" "" "" "PRKG2(NM_001282485.1):c.540G>A (p.(Met180Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81174881C>T" "" "VUS" "" "0000609307" "0" "30" "4" "82126134" "82126134" "subst" "0.000366226" "01804" "PRKG2_000008" "g.82126134G>C" "" "" "" "PRKG2(NM_006259.1):c.68C>G (p.(Thr23Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81204980G>C" "" "likely benign" "" "0000689352" "0" "70" "4" "82027085" "82027085" "del" "0" "01804" "PRKG2_000009" "g.82027085del" "" "" "" "PRKG2(NM_006259.1):c.1947del (p.(Ser651Leufs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000830134" "3" "90" "4" "82056380" "82056380" "subst" "4.07349E-6" "00006" "PRKG2_000010" "g.82056380G>A" "" "{PMID:Díaz-Gonzalez 2021:33106379}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830135" "3" "90" "4" "82096085" "82096085" "dup" "0" "00006" "PRKG2_000011" "g.82096085dup" "" "{PMID:Díaz-Gonzalez 2021:33106379}" "" "" "" "Germline" "" "" "0" "" "" "g.81174931dup" "" "pathogenic (recessive)" "" "0000879991" "3" "90" "4" "82010869" "82010869" "dup" "0" "00006" "PRKG2_000012" "g.82010869dup" "" "{PMID:Pagnamenta 2022:34782440}" "" "2282dupA" "" "Germline" "yes" "" "0" "" "" "g.81089715dup" "" "pathogenic (recessive)" "" "0000879992" "3" "90" "4" "82010869" "82010869" "dup" "0" "00006" "PRKG2_000012" "g.82010869dup" "" "{PMID:Pagnamenta 2022:34782440}" "" "2283dupA" "" "Germline" "yes" "" "0" "" "" "g.81089715dup" "" "pathogenic (recessive)" "" "0000879993" "3" "90" "4" "82010869" "82010869" "dup" "0" "00006" "PRKG2_000012" "g.82010869dup" "" "{PMID:Pagnamenta 2022:34782440}" "" "2284dupA" "" "Germline" "yes" "" "0" "" "" "g.81089715dup" "" "pathogenic (recessive)" "" "0000879994" "3" "90" "4" "82056380" "82056380" "subst" "4.07349E-6" "00006" "PRKG2_000010" "g.82056380G>A" "" "{PMID:Pagnamenta 2022:34782440}" "" "" "" "Germline" "" "" "0" "" "" "g.81135226G>A" "" "pathogenic (recessive)" "" "0000928943" "0" "50" "4" "82095958" "82095958" "subst" "0" "01804" "PRKG2_000013" "g.82095958A>C" "" "" "" "PRKG2(NM_001282485.1):c.617T>G (p.(Phe206Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948372" "0" "50" "4" "82025522" "82025539" "del" "0" "01804" "PRKG2_000014" "g.82025522_82025539del" "" "" "" "PRKG2(NM_001282480.1):c.855_866+6del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948373" "0" "30" "4" "82027097" "82027097" "subst" "4.07461E-6" "01804" "PRKG2_000015" "g.82027097G>A" "" "" "" "PRKG2(NM_006259.1):c.1941-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976386" "0" "30" "4" "82013616" "82013616" "subst" "0" "01804" "PRKG2_000016" "g.82013616G>T" "" "" "" "PRKG2(NM_006259.3):c.2127-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976387" "0" "50" "4" "82064101" "82064101" "subst" "8.22179E-6" "01804" "PRKG2_000017" "g.82064101C>T" "" "" "" "PRKG2(NM_006259.3):c.1254G>A (p.(Lys418=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976388" "0" "50" "4" "82090889" "82090889" "subst" "0" "01804" "PRKG2_000018" "g.82090889C>T" "" "" "" "PRKG2(NM_006259.3):c.776G>A (p.(Arg259Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994450" "0" "50" "4" "82027000" "82027000" "subst" "1.62617E-5" "01804" "PRKG2_000019" "g.82027000C>T" "" "" "" "PRKG2(NM_006259.1):c.2030G>A (p.(Arg677Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034687" "0" "50" "4" "82013537" "82013537" "subst" "0" "01804" "PRKG2_000020" "g.82013537T>C" "" "" "" "PRKG2(NM_006259.3):c.2193+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034688" "0" "30" "4" "82074580" "82074580" "subst" "0" "01804" "PRKG2_000021" "g.82074580C>A" "" "" "" "PRKG2(NM_001282480.1):c.-271+4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 PRKG2 ## Count = 22 "{{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}}" "0000301232" "00016850" "10" "2127" "-21" "2127" "-14" "c.2127-21_2127-14del" "r.(=)" "p.(=)" "" "0000330028" "00016850" "70" "176" "0" "176" "0" "c.176C>A" "r.(?)" "p.(Ser59Ter)" "" "0000523333" "00016850" "30" "1639" "0" "1639" "0" "c.1639A>G" "r.(?)" "p.(Ser547Gly)" "" "0000609305" "00016850" "30" "628" "6" "628" "6" "c.628+6T>C" "r.(=)" "p.(=)" "" "0000609306" "00016850" "50" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Met180Ile)" "" "0000609307" "00016850" "30" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Thr23Ser)" "" "0000689352" "00016850" "70" "1947" "0" "1947" "0" "c.1947del" "r.(?)" "p.(Ser651LeufsTer6)" "" "0000830134" "00016850" "90" "1705" "0" "1705" "0" "c.1705C>T" "r.(?)" "p.(Arg569*)" "" "0000830135" "00016850" "90" "491" "0" "491" "0" "c.491dup" "r.(?)" "p.(Asn164Lysfs*2)" "" "0000879991" "00016850" "90" "2282" "0" "2282" "0" "c.2282dup" "r.(?)" "p.(Asp761GlufsTer34)" "" "0000879992" "00016850" "90" "2282" "0" "2282" "0" "c.2282dup" "r.(?)" "p.(Asp761GlufsTer34)" "" "0000879993" "00016850" "90" "2282" "0" "2282" "0" "c.2282dup" "r.(?)" "p.(Asp761GlufsTer34)" "" "0000879994" "00016850" "90" "1705" "0" "1705" "0" "c.1705C>T" "r.(?)" "p.(Arg569Ter)" "" "0000928943" "00016850" "50" "617" "0" "617" "0" "c.617T>G" "r.(?)" "p.(Phe206Cys)" "" "0000948372" "00016850" "50" "2115" "0" "2126" "6" "c.2115_2126+6del" "r.(?)" "p.(Asn703_Arg709delinsLys)" "" "0000948373" "00016850" "30" "1941" "-8" "1941" "-8" "c.1941-8C>T" "r.(=)" "p.(=)" "" "0000976386" "00016850" "30" "2127" "-10" "2127" "-10" "c.2127-10C>A" "r.(=)" "p.(=)" "" "0000976387" "00016850" "50" "1254" "0" "1254" "0" "c.1254G>A" "r.(?)" "p.(=)" "" "0000976388" "00016850" "50" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259Gln)" "" "0000994450" "00016850" "50" "2030" "0" "2030" "0" "c.2030G>A" "r.(?)" "p.(Arg677Gln)" "" "0001034687" "00016850" "50" "2193" "3" "2193" "3" "c.2193+3A>G" "r.spl?" "p.?" "" "0001034688" "00016850" "30" "990" "218" "990" "218" "c.990+218G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000397951" "0000830134" "0000397952" "0000830135" "0000419823" "0000879991" "0000419824" "0000879992" "0000419825" "0000879993" "0000419826" "0000879994"