Donor Categories

APOE ε4/4 C9orf72 repeat expansion C9orf72: Chr9: 13997–68401065 (C9orf72 repeat expansion) CCNF(unspecified reference):p.(Ser621Gly) Compound heterozygous: CYP2U1 (unspecified reference):c.471delC p.(Ile158fs), and: CYP2U1(unspecified reference): c.1085T>C p.(Leu362Pro) Compound heterozygous: CYP2U1(unspecified reference):c.1376C>T p.(Pro459Leu), and: CYP2U1(unspecified reference):c.1462C>T p.(Arg488Trp) Compound heterozygous: NC_000007.14:g.141596617_141596618del; and: NC_000007.14:g.141596619insT Compound heterozygous: NC_000023.11:g.154413203_154413213del; and: NC_000023.11:g.154413186_154413210del Compound heterozygous: NM_000086.2:c.175G>A(p.Ala59Thr); and: unspecified_reference_CLN3: 1.02kb deletion including of exons 7 and 8 Compound heterozygous: NM_000350.2:c.[4139C>T], [5461-10T>C] Compound heterozygous: NM_000350.2:c.[5461-10T>C, 5603A>T], [4163T>C, 455G>A] Compound heterozygous: NM_000350.2:c.[768G>T], [6079C>T] Compound heterozygous: NM_014014.5:c.[1792C>T], [3341T>C] Compound heterozygous: NM_018191.4:c.170del(p.Gly57Glufs*12), and: NM_018191.4:c.707del(p.Asn236Thrfs*11) Compound heterozygous: NM_201253.2:c.1892A>G(p.Tyr631Cys), and: NM_201253.2:c.2548G>A(p.Gly850Ser) Compound heterozygous: NM_201253.3:c.[2555T>C], [3014A>T] Compound heterozygous: NM_206933.2:c.[949C>A], [1256G>T] Compound heterozygous: NM_206933.2:c.[949C>A]; [1256G>T] Compound heterozygous: NM_206933.2:c.[949C>A];[1256G>T] Compound heterozygous: deletion of PRKN exon 2 (hg38 breakpoints: chr6:162,373,997–162,454,310); and: deletion of PRKN exons 5, 6 and 7 (hg38 breakpoints: chr6:161,782,323–162,062,127) Compound heterozygous: unspecified_reference_ABCA4:c.[5461–10T>C, 5603A>T], [6077T>C] Compound heterozygous: unspecified_reference_PAH: c.117C>G(p.Phe39Leu); and: unspecified_reference_PAH: c.1066G>A[IVS10-11G>A] Compound heterozygous: unspecified_reference_PAH: c.896T>G(p.Phe299Cys); and: unspecified_reference_PAH: c.1222C>T(p.ARG408Trp) Compound heterozygous: unspecified_reference_PRKN:p.Arg275Trp; and: unspecified_reference_PRKN:133kb deletion encompassing exon 8. Heterozygous (A>G): rs9349379 Heterozygous: CYP2U1(unspecified reference):c.1085T>C p.(Leu362Pro) Heterozygous: NM_000257.4:c.4850_4852delAGA p.(Lys1617del) Heterozygous: NM_000267.3:c.1541_1542delAG Heterozygous: NM_000267.3:c.6886delT Heterozygous: NM_000267.3:c.7846C>T Heterozygous: NM_000335.5:c.392+3A>G Heterozygous: NM_000454.4:c.229G>T p.(Asp77Tyr) Heterozygous: NM_000540.3:c.14145_14156delCTACTGGGACAA p.(Asn4715_Asp4718del) Heterozygous: NM_000540.3:c.14437C>T p.(His4813Tyr) Heterozygous: NM_000540.3:c.4038C>A p.(Asn1346Lys) Heterozygous: NM_000540.3:c.7522C>T(NP_000531.2: p.Arg2508Cys) Heterozygous: NM_001042492.3:c.4043delA Heterozygous: NM_001042492.3:c.496_497delGT Heterozygous: NM_001100:c.515C>A p.(Ala172Glu) Heterozygous: NM_001100:c.541G>A p.(Asp179Asn) Heterozygous: NM_001100:c.553C>A p.(Arg183Ser) Heterozygous: NM_001232.4:c.539A>G p.(Lys180Arg) Heterozygous: NM_001270525.1:c.259G>A p.(Glu87Lys) Heterozygous: NM_006269.1:c.2098G>T p.(Glu700Ter) Heterozygous: NM_015629.3:c.1205C>A p.(Ser402Ter) Heterozygous: NM_015629.3:c.267del p.(Glu89Aspfs*11) Heterozygous: NM_016146.5:c.454+3A>G Heterozygous: NM_022124.6:c.1515-12G>A Heterozygous: PSEN1(unspecified reference):p.(Ala246Glu) Heterozygous: SCN2A(unspecified reference): p.(Arg1882Gln) Heterozygous: unspecified_reference:c.443G>A p.(Gly148Asp) Heterozygous: unspecified_reference_COL1A1:c.3936G>T(p.Trp1312Cys) Heterozygous: unspecified_reference_COL6A1:c.1056+2T>A Heterozygous: unspecified_reference_SCN2A:p.Glu1211Lys Heterozygous: unspecified_reference_SOD1:p.Glu101Gly Heterzygous: CYP2U1(unspecified reference):c.471delC p.(Ile158fs) Homozygous: NM_000260.3:c.496del(NP_000251.3:p.Glu166Argfs*5) Homozygous: NM_001100:c.121C>T p.(Arg39Ter) Homozygous: NM_016146.5:c.454+3A>G Homozygous: unspecified_reference_COL1A1:c.3936=(p.Trp1312=) NM_000540.3:c.14145_14156delCTACTGGGACAA p.(Asn4715_Asp4718del) [C9orf72 repeat expansion] [C9orf72: Chr9: 13997–68401065 (C9orf72 repeat expansion)] [Heterozygous (A>G): rs9349379] [Heterozygous: NM_000086.2:c.175G>A(p.Ala59Thr)] [Heterozygous: NM_000335.5:c.392+3A>G] [Heterozygous: NM_000350.2:c.455G>A] [Heterozygous: NM_000350.2:c.5461-10T>C] [Heterozygous: NM_000350.2:c.768G>T(p.(=))], [Heterozygous: NM_000350.2:c.768G>T] [Heterozygous: NM_000454.4:c.229G>T(unspecified_reference_SOD1:p.Asp77Tyr)], [Heterozygous: NM_000454.4:c.229G>T(p.Asp77Tyr)] [Heterozygous: NM_001232.4:c.539A>G((NP_001223.2):p.(Lys180Arg))] [Heterozygous: NM_006269.1:c.2098G>T(p.E700X)] [Heterozygous: NM_014014.5:c.1792C>T(p.Arg598Cys)] [Heterozygous: NM_015629.3:c.1205C>A(p.Ser402Ter)] [Heterozygous: NM_018191.4:c.170del(p.Gly57Glufs*12)] [Heterozygous: NM_201253.2:c.1892A>G(p.Tyr631Cys)] [Heterozygous: NM_201253.3:c.2555T>C] [Heterozygous: NM_206933.2:c.949C>A(p.(=],[Tyr318Cysfs*17))],[Heterozygous: NM_206933.2:c.949C>A(p.(=],[Tyr318Cysfs*17))], [Heterozygous: NM_206933.2:c.949C>A(p.(=, Tyr318Cysfs*17))] [Heterozygous: deletion of PRKN exon 2 (hg38 breakpoints: chr6:162],[373],[997–162],[454],[310)],[Heterozygous: deletion of PRKN exon 2 (hg38 breakpoints: chr6:162], [Heterozygous: deletion of PRKN exon 2 (hg38 breakpoints: chr6:162,373,997–162,454,310)] [Heterozygous: unspecified_reference_ABCA4:c.5461–10T>C] [Heterozygous: unspecified_reference_ACTA1:c.443G>A(p.Gly148Asp)] [Heterozygous: unspecified_reference_COL1A1:c.3936G>T(p.Trp1312Cys)] [Heterozygous: unspecified_reference_COL1A1:c.3936G>T] [Heterozygous: unspecified_reference_COL6A1:c.1056+2T>A] [Heterozygous: unspecified_reference_CYP2U1:Chr4:107932113(c.471delC(p.Ile158fs))] [Heterozygous: unspecified_reference_CYP2U1:Chr4:107945564(c.1085T>C(p.Leu362Pro))] [Heterozygous: unspecified_reference_CYP2U1:Chr4:107949437(c.1376C>T(p.Pro459Leu))] [Heterozygous: unspecified_reference_PRKN:133kb deletion encompassing exon 8.] [Heterozygous: unspecified_reference_SCN2A: p.R1882Q] [Heterozygous: unspecified_reference_SCN2A:p.Glu1211Lys] [Heterozygous: unspecified_reference_SOD1:p.Glu101Gly] [Homozygous: NM_000260.3:c.496del(NP_000251.3:p.Glu166Argfs*5)] [unspecified_reference_CCNF:p.Ser621Gly] [unspecified_reference_PSEN1:p.Ser290Cys], [unspecified_reference_PSEN1:p.Ser290Cys; unspecified_reference_PSEN1:p.Ser290Cys; APOE ɛ3/ɛ3 ] tm(ACTA1t/t:ACTA1-P2A-tdTomato) tm(CX3CR1t/+:CX3CR1-IRES-tdTomato-T2A-Nanoluc-pA-FRT-neo-FRT) unspecified_reference_PSEN1:p.Ser290Cys; APOE ɛ3/ɛ3