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35 records found for search term Ecsit
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401908453CV2811601single nucleotide variantNM_016581.5(ECSIT):c.738+6C>Tnot provided [RCV003423344]benign|likely benign191151305011513050Humanname
405766945CV3248163single nucleotide variantNM_016581.5(ECSIT):c.993G>A (p.Gln331=)not specified [RCV004384456]uncertain significance191150751511507515Humanname
407478593CV3441520single nucleotide variantNM_016581.5(ECSIT):c.64G>A (p.Gly22Arg)not specified [RCV004617567]likely benign191151910711519107Humanname
407478612CV3441524single nucleotide variantNM_016581.5(ECSIT):c.40T>G (p.Cys14Gly)not specified [RCV004617571]uncertain significance191151913111519131Humanname
156225650CV2215751single nucleotide variantNM_016581.5(ECSIT):c.185G>A (p.Arg62Gln)not specified [RCV004095358]likely benign191151413311514133Humanname
156191860CV2325657single nucleotide variantNM_016581.5(ECSIT):c.236C>T (p.Ala79Val)not specified [RCV004180066]uncertain significance191151408211514082Humanname
156007562CV2392626single nucleotide variantNM_016581.5(ECSIT):c.277G>T (p.Val93Leu)not specified [RCV004245864]uncertain significance191151404111514041Humanname
401720764CV2673479single nucleotide variantNM_016581.5(ECSIT):c.251G>A (p.Arg84Gln)not specified [RCV004288448]uncertain significance191151406711514067Humanname
401885037CV2771158single nucleotide variantNM_016581.5(ECSIT):c.104G>A (p.Arg35His)not specified [RCV004346153]uncertain significance191151421411514214Humanname
401908452CV2811600single nucleotide variantNM_016581.5(ECSIT):c.1275A>C (p.Arg425=)not provided [RCV003423343]likely benign191150620511506205Humanname
405766903CV3248156single nucleotide variantNM_016581.5(ECSIT):c.106C>T (p.Arg36Trp)not specified [RCV004384449]uncertain significance191151421211514212Humanname
405766911CV3248157single nucleotide variantNM_016581.5(ECSIT):c.134C>T (p.Ala45Val)not specified [RCV004384450]uncertain significance191151418411514184Humanname
405766915CV3248158single nucleotide variantNM_016581.5(ECSIT):c.151G>A (p.Glu51Lys)not specified [RCV004384451]uncertain significance191151416711514167Humanname
597803483CV3667366single nucleotide variantNM_016581.5(ECSIT):c.290C>T (p.Ala97Val)not specified [RCV004907101]uncertain significance191151402811514028Humanname
156286203CV2232926single nucleotide variantNM_016581.5(ECSIT):c.485T>C (p.Ile162Thr)not specified [RCV004103307]uncertain significance191151383311513833Humanname
156201962CV2234437single nucleotide variantNM_016581.5(ECSIT):c.352C>T (p.Arg118Trp)not specified [RCV004100648]uncertain significance191151396611513966Humanname
156165695CV2319881single nucleotide variantNM_016581.5(ECSIT):c.445C>T (p.Arg149Cys)not specified [RCV004167763]uncertain significance191151387311513873Humanname
156388194CV2380180single nucleotide variantNM_016581.5(ECSIT):c.650G>A (p.Arg217Gln)not specified [RCV004224548]uncertain significance191151314411513144Humanname
329380264CV2466518single nucleotide variantNM_016581.5(ECSIT):c.758C>T (p.Ser253Leu)not specified [RCV004274061]uncertain significance191150802911508029Humanname
401769339CV2689648single nucleotide variantNM_016581.5(ECSIT):c.301G>A (p.Val101Met)not specified [RCV004297575]uncertain significance191151401711514017Humanname
405766920CV3248159single nucleotide variantNM_016581.5(ECSIT):c.578C>T (p.Pro193Leu)not specified [RCV004384452]uncertain significance191151321611513216Humanname
405766927CV3248160single nucleotide variantNM_016581.5(ECSIT):c.610T>G (p.Phe204Val)not specified [RCV004384453]uncertain significance191151318411513184Humanname
405766935CV3248161single nucleotide variantNM_016581.5(ECSIT):c.747G>C (p.Leu249Phe)not specified [RCV004384454]uncertain significance191150804011508040Humanname
405766941CV3248162single nucleotide variantNM_016581.5(ECSIT):c.946G>A (p.Glu316Lys)not specified [RCV004384455]uncertain significance191150756211507562Humanname
407478582CV3441518single nucleotide variantNM_016581.5(ECSIT):c.370C>T (p.Arg124Trp)not specified [RCV004617565]uncertain significance191151394811513948Humanname
407478598CV3441521single nucleotide variantNM_016581.5(ECSIT):c.310C>T (p.Arg104Trp)not specified [RCV004617568]uncertain significance191151400811514008Humanname
407478604CV3441522single nucleotide variantNM_016581.5(ECSIT):c.424C>G (p.Arg142Gly)not specified [RCV004617569]uncertain significance191151389411513894Humanname
407478608CV3441523single nucleotide variantNM_016581.5(ECSIT):c.553C>G (p.Gln185Glu)not specified [RCV004617570]uncertain significance191151324111513241Humanname
407478618CV3441525single nucleotide variantNM_016581.5(ECSIT):c.689G>A (p.Gly230Asp)not specified [RCV004617572]uncertain significance191151310511513105Humanname
407478622CV3441526single nucleotide variantNM_016581.5(ECSIT):c.362G>A (p.Gly121Asp)not specified [RCV004617573]uncertain significance191151395611513956Humanname
597735983CV3667365single nucleotide variantNM_016581.5(ECSIT):c.343C>T (p.Arg115Cys)not specified [RCV004920563]uncertain significance191151397511513975Humanname
597735990CV3667367single nucleotide variantNM_016581.5(ECSIT):c.793G>A (p.Val265Ile)not specified [RCV004920564]uncertain significance191150799411507994Humanname
597803481CV3667368single nucleotide variantNM_016581.5(ECSIT):c.479G>A (p.Cys160Tyr)not specified [RCV004907102]uncertain significance191151383911513839Humanname
598165636CV3954039single nucleotide variantNM_016581.5(ECSIT):c.997G>A (p.Asp333Asn)not specified [RCV005329738]uncertain significance191150751111507511Humanname
598165642CV3954040single nucleotide variantNM_016581.5(ECSIT):c.959C>T (p.Thr320Met)not specified [RCV005329739]likely benign191150754911507549Humanname