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14 records found for search term Lad1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156190098CV2226882single nucleotide variantNM_005558.4(LAD1):c.28G>A (p.Ala10Thr)not specified [RCV004103860]uncertain significance1201399279201399279Humanname
15195109CV696379single nucleotide variantNM_005558.4(LAD1):c.864G>A (p.Glu288=)not provided [RCV000955831]benign1201386497201386497Humanname
15155703CV696380single nucleotide variantNM_005558.4(LAD1):c.591C>T (p.Ser197=)not provided [RCV000946547]benign1201386770201386770Humanname
15181860CV706989single nucleotide variantNM_005558.4(LAD1):c.990G>A (p.Pro330=)not provided [RCV000974495]benign1201386371201386371Humanname
156082320CV2205427single nucleotide variantNM_005558.4(LAD1):c.143T>G (p.Leu48Arg)not specified [RCV004082372]uncertain significance1201389199201389199Humanname
156401619CV2207484single nucleotide variantNM_005558.4(LAD1):c.127G>A (p.Asp43Asn)not specified [RCV004089961]uncertain significance1201389215201389215Humanname
156223833CV2399243single nucleotide variantNM_005558.4(LAD1):c.159C>A (p.Asp53Glu)not specified [RCV004247032]uncertain significance1201389183201389183Humanname
405808658CV3287014single nucleotide variantNM_005558.4(LAD1):c.103C>T (p.Arg35Cys)not specified [RCV004407164]uncertain significance1201389239201389239Humanname
15178257CV696381single nucleotide variantNM_005558.4(LAD1):c.191G>A (p.Ser64Asn)not provided [RCV000951236]benign1201387170201387170Humanname
617152557CV4020796single nucleotide variantNM_005558.4(LAD1):c.853A>G (p.Thr285Ala)not provided [RCV005428549]likely benign1201386508201386508Humanname
156240214CV2350326single nucleotide variantNM_005558.4(LAD1):c.1184T>G (p.Met395Arg)not specified [RCV004202275]uncertain significance1201383381201383381Humanname
155981502CV2351349single nucleotide variantNM_005558.4(LAD1):c.1154C>T (p.Ser385Leu)not specified [RCV004193049]uncertain significance1201384813201384813Humanname
405808660CV3287015single nucleotide variantNM_005558.4(LAD1):c.1102C>T (p.Arg368Cys)not specified [RCV004407165]uncertain significance1201385730201385730Humanname
15112665CV706990deletionNM_005558.4(LAD1):c.483_484del (p.Leu161fs)not provided [RCV000961343]benign1201386877201386878Humanname