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49 records found for search term Haghl
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401735139CV2699176single nucleotide variantNM_032304.4(HAGHL):c.22G>C (p.Val8Leu)not specified [RCV004303674]uncertain significance16727531727531Humanname
156249897CV2199602single nucleotide variantNM_032304.4(HAGHL):c.58G>A (p.Glu20Lys)not specified [RCV004072349]uncertain significance16727567727567Humanname
401726030CV2699038single nucleotide variantNM_032304.4(HAGHL):c.87C>A (p.Asp29Glu)not specified [RCV004303557]uncertain significance16727596727596Humanname
329376189CV2438017single nucleotide variantNM_032304.4(HAGHL):c.236A>C (p.Asp79Ala)not specified [RCV004263724]uncertain significance16728181728181Humanname
401763305CV2703723single nucleotide variantNM_032304.4(HAGHL):c.236A>G (p.Asp79Gly)not specified [RCV004306608]uncertain significance16728181728181Humanname
401900056CV2780285single nucleotide variantNM_032304.4(HAGHL):c.190C>G (p.Pro64Ala)not specified [RCV004355912]likely benign16728135728135Humanname
405788599CV3269852single nucleotide variantNM_032304.4(HAGHL):c.172G>A (p.Asp58Asn)not specified [RCV004399028]uncertain significance16728117728117Humanname
407504706CV3443918single nucleotide variantNM_032304.4(HAGHL):c.227T>C (p.Leu76Pro)not specified [RCV004624118]uncertain significance16728172728172Humanname
407514041CV3443919single nucleotide variantNM_032304.4(HAGHL):c.254T>C (p.Leu85Pro)not specified [RCV004627392]uncertain significance16728199728199Humanname
407514051CV3443922single nucleotide variantNM_032304.4(HAGHL):c.137C>T (p.Ser46Phe)not specified [RCV004627395]uncertain significance16727996727996Humanname
597709091CV3682033single nucleotide variantNM_032304.4(HAGHL):c.164A>G (p.His55Arg)not specified [RCV004917275]uncertain significance16728023728023Humanname
598246218CV3971325single nucleotide variantNM_032304.4(HAGHL):c.146C>T (p.Ala49Val)not specified [RCV005345124]uncertain significance16728005728005Humanname
598255283CV3971327single nucleotide variantNM_032304.4(HAGHL):c.133G>A (p.Val45Met)not specified [RCV005346526]uncertain significance16727992727992Humanname
598255296CV3971329single nucleotide variantNM_032304.4(HAGHL):c.129G>T (p.Glu43Asp)not specified [RCV005346528]uncertain significance16727988727988Humanname
156254870CV2203328single nucleotide variantNM_032304.4(HAGHL):c.758G>C (p.Arg253Pro)not specified [RCV004071356]uncertain significance16729365729365Humanname
156343691CV2232857single nucleotide variantNM_032304.4(HAGHL):c.758G>A (p.Arg253His)not specified [RCV004101473]uncertain significance16729365729365Humanname
155913045CV2245728single nucleotide variantNM_032304.4(HAGHL):c.718C>A (p.Pro240Thr)not specified [RCV004111596]uncertain significance16729325729325Humanname
156277186CV2255882single nucleotide variantNM_032304.4(HAGHL):c.836C>A (p.Ala279Asp)not specified [RCV004122036]uncertain significance16729443729443Humanname
155945635CV2269692single nucleotide variantNM_032304.4(HAGHL):c.410C>G (p.Ser137Trp)not specified [RCV004126681]uncertain significance16728516728516Humanname
156001606CV2284499single nucleotide variantNM_032304.4(HAGHL):c.574G>A (p.Val192Met)not specified [RCV004140680]uncertain significance16728869728869Humanname
155946045CV2301461single nucleotide variantNM_032304.4(HAGHL):c.706G>A (p.Gly236Ser)not specified [RCV004162390]uncertain significance16729313729313Humanname
155922687CV2340662single nucleotide variantNM_032304.4(HAGHL):c.779C>T (p.Pro260Leu)not specified [RCV004190335]uncertain significance16729386729386Humanname
329372982CV2451753single nucleotide variantNM_032304.4(HAGHL):c.298A>G (p.Ile100Val)not specified [RCV004276444]uncertain significance16728325728325Humanname
401721555CV2683557single nucleotide variantNM_032304.4(HAGHL):c.539A>C (p.Glu180Ala)not specified [RCV004282489]uncertain significance16728834728834Humanname
401758604CV2700629single nucleotide variantNM_032304.4(HAGHL):c.509G>A (p.Cys170Tyr)not specified [RCV004313358]uncertain significance16728804728804Humanname
401739506CV2708487single nucleotide variantNM_032304.4(HAGHL):c.754G>A (p.Ala252Thr)not specified [RCV004313579]uncertain significance16729361729361Humanname
405788604CV3269853single nucleotide variantNM_032304.4(HAGHL):c.303C>A (p.His101Gln)not specified [RCV004399029]uncertain significance16728330728330Humanname
405788609CV3269854single nucleotide variantNM_032304.4(HAGHL):c.428C>G (p.Ser143Trp)not specified [RCV004399030]uncertain significance16728534728534Humanname
405788614CV3269855single nucleotide variantNM_032304.4(HAGHL):c.514C>T (p.His172Tyr)not specified [RCV004399031]uncertain significance16728809728809Humanname
405788619CV3269856single nucleotide variantNM_032304.4(HAGHL):c.619G>A (p.Val207Met)not specified [RCV004399032]uncertain significance16729027729027Humanname
405788624CV3269857single nucleotide variantNM_032304.4(HAGHL):c.641T>C (p.Leu214Pro)not specified [RCV004399033]uncertain significance16729049729049Humanname
405788629CV3269858single nucleotide variantNM_032304.4(HAGHL):c.649G>A (p.Glu217Lys)not specified [RCV004399034]uncertain significance16729057729057Humanname
405788634CV3269859single nucleotide variantNM_032304.4(HAGHL):c.827T>C (p.Leu276Pro)not specified [RCV004399035]uncertain significance16729434729434Humanname
407514035CV3443916single nucleotide variantNM_032304.4(HAGHL):c.721G>C (p.Ala241Pro)not specified [RCV004627390]uncertain significance16729328729328Humanname
407514038CV3443917single nucleotide variantNM_032304.4(HAGHL):c.721G>A (p.Ala241Thr)not specified [RCV004627391]uncertain significance16729328729328Humanname
407514045CV3443920single nucleotide variantNM_032304.4(HAGHL):c.829A>C (p.Ser277Arg)not specified [RCV004627393]uncertain significance16729436729436Humanname
407514048CV3443921single nucleotide variantNM_032304.4(HAGHL):c.592T>C (p.Trp198Arg)not specified [RCV004627394]uncertain significance16728887728887Humanname
407514054CV3443923single nucleotide variantNM_032304.4(HAGHL):c.431G>T (p.Cys144Phe)not specified [RCV004627396]uncertain significance16728537728537Humanname
597781028CV3682032single nucleotide variantNM_032304.4(HAGHL):c.325G>C (p.Gly109Arg)not specified [RCV004930791]uncertain significance16728352728352Humanname
597709100CV3682035single nucleotide variantNM_032304.4(HAGHL):c.374C>G (p.Pro125Arg)not specified [RCV004917276]uncertain significance16728401728401Humanname
597781032CV3682036single nucleotide variantNM_032304.4(HAGHL):c.473A>G (p.Glu158Gly)not specified [RCV004930792]uncertain significance16728579728579Humanname
597709107CV3682037single nucleotide variantNM_032304.4(HAGHL):c.727G>C (p.Val243Leu)not specified [RCV004917277]uncertain significance16729334729334Humanname
597709117CV3682038single nucleotide variantNM_032304.4(HAGHL):c.643G>C (p.Gly215Arg)not specified [RCV004917278]uncertain significance16729051729051Humanname
597781036CV3682039single nucleotide variantNM_032304.4(HAGHL):c.368A>G (p.Asp123Gly)not specified [RCV004930793]uncertain significance16728395728395Humanname
597781040CV3682040single nucleotide variantNM_032304.4(HAGHL):c.796C>T (p.Arg266Trp)not specified [RCV004930794]uncertain significance16729403729403Humanname
598255272CV3971323single nucleotide variantNM_032304.4(HAGHL):c.841C>T (p.His281Tyr)not specified [RCV005346524]uncertain significance16729448729448Humanname
598246210CV3971324single nucleotide variantNM_032304.4(HAGHL):c.593G>T (p.Trp198Leu)not specified [RCV005345123]uncertain significance16728888728888Humanname
598255278CV3971326single nucleotide variantNM_032304.4(HAGHL):c.481A>G (p.Thr161Ala)not specified [RCV005346525]uncertain significance16728587728587Humanname
598255290CV3971328single nucleotide variantNM_032304.4(HAGHL):c.410C>T (p.Ser137Leu)not specified [RCV005346527]likely benign16728516728516Humanname