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24 records found for search term Nsmce1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155930760CV2297054single nucleotide variantNM_145080.4(NSMCE1):c.8G>A (p.Gly3Asp)not specified [RCV004150972]uncertain significance162725756327257563Humanname
405710605CV3359445single nucleotide variantNM_145080.4(NSMCE1):c.16A>G (p.Arg6Gly)not specified [RCV004493793]uncertain significance162725755527257555Humanname
156181684CV2384102single nucleotide variantNM_145080.4(NSMCE1):c.28G>A (p.Val10Ile)not specified [RCV004227508]uncertain significance162725754327257543Humanname
597707649CV3577064single nucleotide variantNM_145080.4(NSMCE1):c.85G>A (p.Glu29Lys)not specified [RCV004840475]uncertain significance162725748627257486Humanname
598220984CV3994757single nucleotide variantNM_145080.4(NSMCE1):c.94G>A (p.Asp32Asn)not specified [RCV005379589]uncertain significance162725747727257477Humanname
329377638CV2435985single nucleotide variantNM_145080.4(NSMCE1):c.280A>G (p.Ile94Val)not specified [RCV004255207]likely benign162723424427234244Humanname
401773628CV2727583single nucleotide variantNM_145080.4(NSMCE1):c.227C>T (p.Thr76Met)not specified [RCV004329769]uncertain significance162723520927235209Humanname
597707632CV3577060single nucleotide variantNM_145080.4(NSMCE1):c.103C>T (p.Arg35Cys)not specified [RCV004840473]uncertain significance162725746827257468Humanname
597707640CV3577063single nucleotide variantNM_145080.4(NSMCE1):c.269C>T (p.Ala90Val)not specified [RCV004840474]uncertain significance162723425527234255Humanname
156308558CV2249527single nucleotide variantNM_145080.4(NSMCE1):c.548C>T (p.Thr183Met)not specified [RCV004120556]uncertain significance162722677227226772Humanname
156171268CV2312564single nucleotide variantNM_145080.4(NSMCE1):c.630G>C (p.Arg210Ser)not specified [RCV004169307]uncertain significance162722581727225817Humanname
156077590CV2318573single nucleotide variantNM_145080.4(NSMCE1):c.542G>A (p.Arg181Gln)not specified [RCV004173478]uncertain significance162722677827226778Humanname
156193105CV2325801single nucleotide variantNM_145080.4(NSMCE1):c.784C>G (p.Arg262Gly)not specified [RCV004173686]uncertain significance162722517427225174Humanname
155987918CV2354989single nucleotide variantNM_145080.4(NSMCE1):c.692G>A (p.Cys231Tyr)not specified [RCV004198390]uncertain significance162722575527225755Humanname
401756396CV2687128single nucleotide variantNM_145080.4(NSMCE1):c.442C>G (p.Gln148Glu)not specified [RCV004304432]uncertain significance162723304227233042Humanname
401771586CV2722880single nucleotide variantNM_145080.4(NSMCE1):c.547A>G (p.Thr183Ala)not specified [RCV004327075]uncertain significance162722677327226773Humanname
405710615CV3359446single nucleotide variantNM_145080.4(NSMCE1):c.512G>A (p.Arg171Gln)not specified [RCV004493794]uncertain significance162722680827226808Humanname
405710619CV3359447single nucleotide variantNM_145080.4(NSMCE1):c.560C>T (p.Ala187Val)not specified [RCV004493795]uncertain significance162722676027226760Humanname
407477024CV3462072single nucleotide variantNM_145080.4(NSMCE1):c.767C>T (p.Ser256Leu)not specified [RCV004638748]uncertain significance162722519127225191Humanname
597643237CV3577061single nucleotide variantNM_145080.4(NSMCE1):c.508G>A (p.Gly170Ser)not specified [RCV004832575]likely benign162722681227226812Humanname
597643244CV3577062single nucleotide variantNM_145080.4(NSMCE1):c.785G>A (p.Arg262Gln)not specified [RCV004832576]uncertain significance162722517327225173Humanname
598220969CV3994755single nucleotide variantNM_145080.4(NSMCE1):c.655T>C (p.Tyr219His)not specified [RCV005379587]uncertain significance162722579227225792Humanname
598220976CV3994756single nucleotide variantNM_145080.4(NSMCE1):c.370G>T (p.Ala124Ser)not specified [RCV005379588]uncertain significance162723311427233114Humanname
598220993CV3994758single nucleotide variantNM_145080.4(NSMCE1):c.486G>C (p.Lys162Asn)not specified [RCV005379590]uncertain significance162722683427226834Humanname