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28 records found for search term Phax
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155925038CV2220424single nucleotide variantNM_032177.4(PHAX):c.25G>A (p.Glu9Lys)not specified [RCV004095827]uncertain significance5126600987126600987Humanname
405748979CV3365053single nucleotide variantNM_032177.4(PHAX):c.23T>G (p.Met8Arg)not specified [RCV004498829]uncertain significance5126600985126600985Humanname
156163237CV2368426single nucleotide variantNM_032177.4(PHAX):c.55G>T (p.Asp19Tyr)not specified [RCV004219192]uncertain significance5126601017126601017Humanname
155908940CV2387475single nucleotide variantNM_032177.4(PHAX):c.32G>A (p.Gly11Glu)not specified [RCV004240337]uncertain significance5126600994126600994Humanname
15127263CV734822single nucleotide variantNM_032177.4(PHAX):c.447C>T (p.Ser149=)not provided [RCV000897077]likely benign5126603920126603920Humanname
156042352CV2342221single nucleotide variantNM_032177.4(PHAX):c.185G>A (p.Ser62Asn)not specified [RCV004191802]uncertain significance5126603658126603658Humanname
329362260CV2466223single nucleotide variantNM_032177.4(PHAX):c.251G>A (p.Arg84Gln)not specified [RCV004279859]uncertain significance5126603724126603724Humanname
401760761CV2706082single nucleotide variantNM_032177.4(PHAX):c.140C>T (p.Thr47Met)not specified [RCV004314774]uncertain significance5126603613126603613Humanname
405748974CV3365052single nucleotide variantNM_032177.4(PHAX):c.138C>G (p.Asn46Lys)not specified [RCV004498828]uncertain significance5126603611126603611Humanname
597676492CV3572244single nucleotide variantNM_032177.4(PHAX):c.206G>A (p.Ser69Asn)not specified [RCV004836927]uncertain significance5126603679126603679Humanname
598248041CV3996481single nucleotide variantNM_032177.4(PHAX):c.134A>G (p.Gln45Arg)not specified [RCV005384262]uncertain significance5126603607126603607Humanname
156191630CV2206187single nucleotide variantNM_032177.4(PHAX):c.790G>A (p.Glu264Lys)not specified [RCV004080626]uncertain significance5126608443126608443Humanname
156194538CV2251735single nucleotide variantNM_032177.4(PHAX):c.821T>G (p.Leu274Arg)not specified [RCV004119738]uncertain significance5126608474126608474Humanname
156267374CV2371785single nucleotide variantNM_032177.4(PHAX):c.382G>A (p.Asp128Asn)not specified [RCV004219447]uncertain significance5126603855126603855Humanname
405748993CV3365055single nucleotide variantNM_032177.4(PHAX):c.417G>C (p.Met139Ile)not specified [RCV004498831]uncertain significance5126603890126603890Humanname
405749001CV3365056single nucleotide variantNM_032177.4(PHAX):c.530A>C (p.Glu177Ala)not specified [RCV004498832]uncertain significance5126604003126604003Humanname
405749007CV3365057single nucleotide variantNM_032177.4(PHAX):c.796G>A (p.Ala266Thr)not specified [RCV004498833]uncertain significance5126608449126608449Humanname
407530309CV3467004single nucleotide variantNM_032177.4(PHAX):c.406A>G (p.Ile136Val)not specified [RCV004656987]uncertain significance5126603879126603879Humanname
407529093CV3467005single nucleotide variantNM_032177.4(PHAX):c.376A>G (p.Asn126Asp)not specified [RCV004655868]uncertain significance5126603849126603849Humanname
597676500CV3572245single nucleotide variantNM_032177.4(PHAX):c.745G>A (p.Val249Ile)not specified [RCV004836928]uncertain significance5126608398126608398Humanname
597766908CV3572247single nucleotide variantNM_032177.4(PHAX):c.568G>A (p.Glu190Lys)not specified [RCV004850361]uncertain significance5126604041126604041Humanname
598248011CV3996477single nucleotide variantNM_032177.4(PHAX):c.913A>G (p.Lys305Glu)not specified [RCV005384258]uncertain significance5126617331126617331Humanname
598248019CV3996478single nucleotide variantNM_032177.4(PHAX):c.743G>A (p.Arg248Gln)not specified [RCV005384259]uncertain significance5126608396126608396Humanname
598248026CV3996479single nucleotide variantNM_032177.4(PHAX):c.607G>A (p.Val203Ile)not specified [RCV005384260]uncertain significance5126604080126604080Humanname
598248034CV3996480single nucleotide variantNM_032177.4(PHAX):c.299G>A (p.Gly100Asp)not specified [RCV005384261]uncertain significance5126603772126603772Humanname
15174242CV679061single nucleotide variantNM_032177.4(PHAX):c.379C>T (p.Gln127Ter)Aganglionic megacolon [RCV000984782]uncertain significance5126603852126603852Human2name
405748966CV3365051single nucleotide variantNM_032177.4(PHAX):c.1037A>G (p.Asp346Gly)not specified [RCV004498827]uncertain significance5126624696126624696Humanname
597676509CV3572246single nucleotide variantNM_032177.4(PHAX):c.1129T>G (p.Leu377Val)not specified [RCV004836929]uncertain significance5126624788126624788Humanname