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28 records found for search term Capns1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405745403CV3226201single nucleotide variantNM_001749.4(CAPNS1):c.721+1G>APulmonary hypertension, primary, 6 [RCV003991192]pathogenic193614631336146313Human1name
405712050CV3226202single nucleotide variantNM_001749.4(CAPNS1):c.210-2A>GPulmonary hypertension, primary, 6 [RCV003991193]pathogenic193614229836142298Human1name
8586128CV120724single nucleotide variantNM_001003962.2(CAPNS1):c.-149G>ALung cancer [RCV000101244]uncertain significance193614002136140021Humanname
401910486CV2808562single nucleotide variantNM_001749.4(CAPNS1):c.135C>A (p.Gly45=)not provided [RCV003425118]likely benign193614114636141146Humanname
156012144CV2291225single nucleotide variantNM_001749.4(CAPNS1):c.65G>T (p.Gly22Val)not specified [RCV004153518]uncertain significance193614107636141076Humanname
156165390CV2330045single nucleotide variantNM_001749.4(CAPNS1):c.89G>A (p.Gly30Glu)not specified [RCV004185537]uncertain significance193614110036141100Humanname
401897753CV2776596single nucleotide variantNM_001749.4(CAPNS1):c.47G>C (p.Gly16Ala)not specified [RCV004357474]uncertain significance193614105836141058Humanname
405262917CV3185054single nucleotide variantNM_001749.4(CAPNS1):c.711C>T (p.Asp237=)not provided [RCV003885618]likely benign193614630236146302Humanname
598164354CV3939312single nucleotide variantNM_001749.4(CAPNS1):c.40G>A (p.Gly14Ser)not specified [RCV005307530]uncertain significance193614105136141051Humanname
598164361CV3939315single nucleotide variantNM_001749.4(CAPNS1):c.71G>A (p.Gly24Asp)not specified [RCV005307531]uncertain significance193614108236141082Humanname
156110647CV2261641single nucleotide variantNM_001749.4(CAPNS1):c.160G>T (p.Gly54Cys)not specified [RCV004125963]uncertain significance193614117136141171Humanname
156284346CV2360649single nucleotide variantNM_001749.4(CAPNS1):c.164G>A (p.Gly55Asp)not specified [RCV004213447]uncertain significance193614117536141175Humanname
329377474CV2451825single nucleotide variantNM_001749.4(CAPNS1):c.199A>G (p.Ser67Gly)not specified [RCV004276507]uncertain significance193614121036141210Humanname
598213018CV3939313single nucleotide variantNM_001749.4(CAPNS1):c.173C>A (p.Ala58Asp)not specified [RCV005316254]uncertain significance193614118436141184Humanname
156083809CV2205543single nucleotide variantNM_001749.4(CAPNS1):c.433C>T (p.Arg145Cys)not specified [RCV004082473]uncertain significance193614310536143105Humanname
156139482CV2246869single nucleotide variantNM_001749.4(CAPNS1):c.305G>A (p.Arg102Gln)not specified [RCV004112676]uncertain significance193614271336142713Humanname
155976647CV2266320single nucleotide variantNM_001749.4(CAPNS1):c.743A>G (p.Lys248Arg)not specified [RCV004129143]uncertain significance193614959936149599Humanname
156166789CV2330149single nucleotide variantNM_001749.4(CAPNS1):c.712G>A (p.Ala238Thr)not specified [RCV004185637]uncertain significance193614630336146303Humanname
155901612CV2345840single nucleotide variantNM_001749.4(CAPNS1):c.329G>C (p.Gly110Ala)not specified [RCV004198885]uncertain significance193614273736142737Humanname
156117086CV2349435single nucleotide variantNM_001749.4(CAPNS1):c.304C>T (p.Arg102Trp)not specified [RCV004199362]uncertain significance193614271236142712Humanname
401891951CV2775843single nucleotide variantNM_001749.4(CAPNS1):c.629A>G (p.Tyr210Cys)not specified [RCV004344879]uncertain significance193614622036146220Humanname
401887057CV2777072single nucleotide variantNM_001749.4(CAPNS1):c.625C>T (p.Leu209Phe)not specified [RCV004351860]uncertain significance193614621636146216Humanname
405712648CV3299040single nucleotide variantNM_001749.4(CAPNS1):c.543C>A (p.Phe181Leu)not specified [RCV004427039]uncertain significance193614599336145993Humanname
405712653CV3299041single nucleotide variantNM_001749.4(CAPNS1):c.565A>T (p.Ile189Phe)not specified [RCV004427040]uncertain significance193614601536146015Humanname
597775453CV3643960single nucleotide variantNM_001749.4(CAPNS1):c.752C>G (p.Thr251Ser)not specified [RCV004898241]uncertain significance193614960836149608Humanname
598213014CV3939309single nucleotide variantNM_001749.4(CAPNS1):c.367A>G (p.Ile123Val)not specified [RCV005316253]uncertain significance193614294236142942Humanname
598164344CV3939310single nucleotide variantNM_001749.4(CAPNS1):c.631A>G (p.Asn211Asp)not specified [RCV005307528]uncertain significance193614622236146222Humanname
598213024CV3939314single nucleotide variantNM_001749.4(CAPNS1):c.634A>G (p.Met212Val)not specified [RCV005316255]uncertain significance193614622536146225Humanname