Supplementary Table 1. List of TREX1 Variants Associated with AGS, FCL, SLE / SS and RVCL

Supplementary Table 1. List of TREX1 variants associated with AGS, FCL, SLE / SS and RVCL

Clinical phenotype / Inheritance / Genomic location / cDNA change / Protein change / Short protein nomenclature / ExAc frequency / Reference(s)
AGS / Recessive / 48,508,093 / c.38C>A / p.Thr13Asn / T13N / 0/122703 / #
FCL / Dominant ?SNP¶ / 48,508,103 / c.50T>C / p.Phe17Ser / F17S / 7/122734 / (1)
AGS + FCL / Dominant or de novo / 48,508,106 / c.52G>A / p.Asp18Asn / D18N / 0/122751 / (2, 3)
AGS / ND / 48,508,106 / c.52G>C / p.Asp18His / D18H / 0/122751 / #
AGS / Recessive / 48,508,149 / c.95C>G / p.Thr32Arg / T32R / 0/122691 / #
AGS / Recessive / 48,508,251 / c.197A>G / p.Lys66Arg / K66R / 6/122660 / (4)
AGS / Recessive / 48,508,329 / c.275T>A / p.Leu92Gln / L92Q / 0/122600 / #
AGS + SLE / Recessive / possibly dominant in SLE / 48,508,344 / c.290G>A / p.Arg97His / R97H / 5/122598 / (5, 6)
AGS + SLE / Recessive / possibly dominant in SLE / 48,508,395 / c.341G>A / p.Arg114His / R114H / 19/120730 / (7-10)
AGS / Recessive / 48,508,419 / c.365T>C / p.Val122Ala / V122A / 0/122629 / (11)
SLE / Possibly dominant / 48,508,437 / c.383G>A / p.Arg128His / R128H / 1/122596 / (12)
FCL / Dominant / 48,508,448 / c.394C>G / p.Pro132Ala / P132A / 2/121062 / (13)
SLE / Possibly dominant / 48,508,527 / c.473C>T / p.Ala158Val / A158V / 3/122526 / (8)
AGS / Recessive / 48,508,539 / c.485T>C / p.Leu162Pro / L162P / 0/122517 / (4)
AGS / Recessive / 48,508,607 / c.553C>T / p.Arg185Cys / R185C / 2/122616 / #
AGS / Dominant or de novo / 48,508,637 / c.583C>T / p.His195Tyr / H195Y / 0/122587 / (14)
FCL / Dominant / 48,508,639 / c.585C>G / p.His195Gln / H195Q / 0/122587 / (15)
AGS + SS / Recessive / possibly dominant in SS / 48,508,646 / c.592G>A / p.Glu198Lys / E198K / 0/122621 / (16, 17)
AGS / Dominant or de novo / 48,508,652 / c.598G>A / p.Asp200Asn / D200N / 0/122617 / (1)
AGS / Dominant or de novo / 48,508,652 / c.598G>C / p.Asp200His / D200H / 0/122617 / (16)
AGS / Recessive / 48,508,656 / c.602T>A / p.Val201Asp / V201N / 0/122617 / (7)
AGS / Recessive / 48,508,713 / c.659A>G / p.Asp220Gly / D220G / 0/122678 / #
AGS / Recessive / 48,508,721 / c.667G>A / p.Ala223Thr / A223T / 2/122676 / (14)
SLE / Possibly dominant / 48,508,733 / c.679G>A / p.Gly227Ser / G227S / 18/122700 / (8)
SLE / Possibly dominant / 48,508,774 / c.720G>C / p.Arg240Ser / R240S / 26/122778 / (8, 9)
SLE / Possibly dominant / 48,508,793 / c.739G>C / p.Ala247Pro / A247P / 16/122794 / (8, 9)
SLE / Possibly dominant / 48,508,923 / c.869C>T / p.Pro290Leu / P290L / 6/121912 / (8, 10)
AGS / Recessive / 48,508,961 / c.907A>C / p.Thr303Pro / T303P / 2/120998 / (11)
SLE / Possibly dominant / 48,508,968 / c.914A>G / p.Tyr305Cys / Y305C / 17/120566 / (8, 9)
SS / Possibly dominant / 48,508,971 / c.917G>C / p.Gly306Ala / G306A / 1/120268 / (8)
AGS / Recessive / 48,508,544 / c.490C>T / p.Arg164*§ / R164* / 0/122513 / (7)
AGS / Recessive / 48,508,113 / c.58dup / p.Glu20Glyfs*82 / E20Gfs*82 / 0/122751 / (7)
AGS / Recessive / 48,508,199 / c.144dupC / p.Thr49Hisfs*50 / T49Hfs*50 / 0/122617 / #
AGS / Recessive / 48,508,204 / c.150_151del / p.Gln51Glyfs*50 / Q51Gfs*50 / 0/122603 / (16)
AGS / Recessive / 48,508,206 / c.152_153del / p.Gln51Argfs*50 / Q51Rfs*50 / 1/122602 / (4)
AGS / Recessive / 48,508,267 / c.212_213dup / p.Ala72Trpfs*17 / A72Wfs*17 / 0/122632 / (11)
AGS / Recessive / 48,508,294 / c.240dup / p.Ala81Serfs*21 / A81Sfs*21 / 0/122619 / #
AGS / Recessive / 48,508,291 / c.236_243dup / p.Ser82Leufs*9 / S82Lfs*9 / 0/122619 / #
AGS / Recessive / 48,508,316 / c.262_263insAG / p.Ser88Lysfs*23 / S88Kfs*23 / 0/122615 / (5)
AGS / Recessive / 48,508,348 / c.294dup / p.Cys99Metfs*3 / C99Mfs*3 / 0/122613 / (18)
AGS / Recessive / 48,508,422 / c.366_368dup / p.Ala123dup / A123dup / 0/122629 / (11)
FCL / Dominant / 48,508,429 / c.375dup / p.Gly126Trpfs*2 / G126fWs*2 / 0/122629 / (1)
AGS / Recessive / 48,508,451 / c.397delC / p.Leu133Cysfs*27 / L133Cfs*27 / 0/122611 / (11)
AGS / Recessive / 48,508,462 / c.393_408dup / p.Glu137Profs*24 / Q137Pfs*24 / 0/122611 / (11)
AGS / Recessive / 48,508,469 / c.415_416delGC / p.Ala139Tyrfs*16 / A139Yfs*16 / 0/122569 / #
AGS / Recessive / 48,508,521 / c.467delT / p.Ile156Thrfs*4 / I156Tfs*4 / 0/122531 / #
AGS / Recessive / 48,508,524 / c.470del / p.Thr157Metfs*3 / T157Mfs*3 / 0/122531 / #
AGS / Recessive / 48,508,554 / c.500del / p.Ser167Thrfs*13 / S167Tfs*13 / 0/122537 / (11)
AGS / Recessive / 48,508,654 / c.598_600dup / p.Asp200dup / D200dup / 0/122617 / (7)
AGS / Recessive / 48,508,663 / c.609_662dup / p.Leu204_Ala221dup / L204_A221dup / 0/122659 / (11)
AGS / Recessive / 48,508,682 / c.625_628dup / p.Trp210Serfs*32 / W210Sfs*32 / 0/122659 / (11)
AGS + SLE / Recessive / possibly dominant in SLE / 48,508,689 / c.635delC / p.Pro212Hisfs*65 / P212Hfs*65 / 1/122648 / (8, 16)
AGS / Recessive / 48,508,747 / c.693dupC / p.Met232Hisfs*9 / M232Hfs*9 / 0/122723 / #
RVCL / Dominant / 48,508,757 / c.703dup / p.Val235Glyfs*6 / V235Gfs*6 / 0/122739 / (19-21)
RVCL / Dominant / 48,508,760 / c.706dup / p.Thr236Asnfs*5 / T236Nfs*5 / 0/122739 / (19)
RVCL / Dominant / 48,508,799 / c.742_745dup / p.Thr249Serfs*14 / T249Sfs*14 / 0/122787 / (19, 22)
RVCL / Dominant / 48,508,861 / c.807_808insG / p.Thr270Aspfs*55 / T270Nfs*55 / 0/122701 / (21)
SLE / Possibly dominant / 48,508,866 / c.812_813insAA / p.Asp272Argfs*6 / D272Rfs*6 / 0/122673 / (8)
RVCL / Dominant / 48,508,876 / c.822delT / p.Pro275Glnfs*2 / P275Qfs*2 / 0/122673 / (23)
AGS / Recessive / 48,508,893 / c.839delG / p.Gly280Glufs*18 / G280Efs*18 / 0/122473 / (14)
RVCL / Dominant / 48,508,904 / c.850dup / p.Arg284Lysfs*41 / R284Kfs*41 / 0/122245 / (19)
RVCL / Dominant / 48,508,912 / c.858dup / p.Leu287Alafs*38 / L287Afs*38 / 0/122245 / (19)
AGS / Recessive / 48,508,912 / c.858delG / p.Leu287Cysfs*11 / L287Cfs*11 / 0/122245 / #
AGS / Recessive / 48,508,922 / c.868_885del / p.Pro290_Ala295del / P290_Ala295del / 0/122245 / (11, 16)

TREX1 transcript NM_033629.2. § Cree Indian founder mutation. ¶ Variant reported in association with the c.375dup mutation in a family with FCL, but may be a rare SNP. SS = Sjörgen’s syndrome.# Mutation reported on LOVD TREX1 database ( ExAc frequencies from

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