All variants in the TREX1 gene

Information The variants shown are described using the transcript reference sequence.

181 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 2 c.? r.? p.? - VUS g.? - c.137G>C (Ser46Thr) - OPA1_000148 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
?/. - c.-19438C>T r.(?) p.(=) - VUS g.48488452C>T g.48447048C>T ATRIP(NM_130384.3):c.203C>T (p.S68L) - ATRIP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-16413G>A r.(?) p.(=) - VUS g.48491477G>A g.48450071G>A ATRIP(NM_032166.3):c.282G>A (p.(Met94Ile)) - ATRIP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.-7134A>G r.(?) p.(=) - likely pathogenic g.48500756A>G g.48459357A>G ATRIP(NM_001271023.1):c.551-2A>G - ATRIP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-5961C>T r.(?) p.(=) - likely benign g.48501929C>T g.48460530C>T ATRIP(NM_130384.3):c.1476C>T (p.V492=) - ATRIP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-5813C>T r.(?) p.(=) - VUS g.48502077C>T g.48460678C>T ATRIP(NM_130384.3):c.1624C>T (p.L542F) - ATRIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-2686C>T r.(?) p.(=) - likely benign g.48505204C>T - ATRIP(NM_130384.3):c.1806C>T (p.S602=) - ATRIP_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-1841G>C r.(?) p.(=) - likely benign g.48506049G>C g.48464650G>C ATRIP(NM_130384.3):c.2043G>C (p.Q681H) - ATRIP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-1653G>A r.(?) p.(=) - VUS g.48506237G>A g.48464838G>A ATRIP(NM_001271022.1):c.1682G>A (p.(Arg561Lys)) - ATRIP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-1611G>A r.(?) p.(=) - likely benign g.48506279G>A g.48464880G>A ATRIP(NM_001271022.1):c.1724G>A (p.(Arg575Gln)) - ATRIP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-1583C>G r.(?) p.(=) - likely benign g.48506307C>G - ATRIP(NM_130384.3):c.2133C>G (p.D711E) - ATRIP_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-1573C>T r.(?) p.(=) - VUS g.48506317C>T - ATRIP(NM_130384.3):c.2143C>T (p.R715W) - ATRIP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-1501A>T r.(?) p.(=) - likely benign g.48506389A>T g.48464990A>T ATRIP(NM_130384.3):c.2215A>T (p.M739L) - ATRIP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-1419C>T r.(?) p.(=) - likely benign g.48506471C>T - ATRIP(NM_130384.3):c.2297C>T (p.T766M) - ATRIP_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-223T>C r.(?) p.(=) - benign g.48507667T>C g.48466268T>C ATRIP-TREX1(NR_153405.1):n.3242T>C - ATRIP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-18C>T r.(?) p.(=) - benign g.48507872C>T g.48466473C>T ATRIP(NM_130384.3):c.*919C>T - ATRIP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.5G>A r.(?) p.(Gly2Asp) - VUS g.48507894G>A g.48466495G>A ATRIP(NM_130384.3):c.*941G>A - ATRIP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.16C>T r.(?) p.(Arg6Cys) - likely pathogenic g.48507905C>T g.48466506C>T - - TREX1_000069 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - 0 - LOVD
-?/. - c.21A>G r.(?) p.(Arg7=) - likely benign g.48507910A>G g.48466511A>G ATRIP(NM_130384.3):c.*957A>G - ATRIP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.45G>T r.(?) p.(Arg15Ser) - likely benign g.48507934G>T g.48466535G>T ATRIP(NM_130384.3):c.*981G>T - ATRIP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.70C>G r.(?) p.(Pro24Ala) - VUS g.48507959C>G g.48466560C>G ATRIP(NM_130384.3):c.*1006C>G, TREX1(NM_007248.2):c.-18-108C>G (p.(=)) - ATRIP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.70C>G r.(?) p.(Pro24Ala) - VUS g.48507959C>G g.48466560C>G ATRIP(NM_130384.3):c.*1006C>G, TREX1(NM_007248.2):c.-18-108C>G (p.(=)) - ATRIP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.72T>A r.(?) p.(=) - likely benign g.48507961T>A - TREX1(NM_007248.2):c.-18-106T>A (p.(=)) - ATRIP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.75C>A r.(?) p.(Thr25=) - likely benign g.48507964C>A g.48466565C>A ATRIP(NM_130384.3):c.*1011C>A - ATRIP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.91C>T r.(?) p.(Arg31Trp) - likely benign g.48507980C>T - TREX1(NM_007248.5):c.-18-87C>T - ATRIP_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 c.? r.(?) p.? - likely pathogenic g.48507984C>T - c.95C>T - OPA1_000148 - PubMed: Zhou-2011 - - Unknown - - - 0 - LOVD
?/. 1 c.139G>A r.(?) p.(Gly47Ser) - VUS g.48508028G>A g.48466629G>A - - TREX1_000061 - - - - Germline yes - - 0 - Wenjuan Qiu
?/. - c.139G>A r.(?) p.(Gly47Ser) - VUS g.48508028G>A g.48466629G>A ATRIP(NM_130384.3):c.*1075G>A - TREX1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.164C>T r.(?) p.(Thr55Ile) - likely benign g.48508053C>T g.48466654C>T ATRIP-TREX1(NR_153405.1):n.3308C>T - ATRIP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.166A>G r.(?) p.(Met56Val) - VUS g.48508055A>G g.48466656A>G TREX1(NM_033629.6):c.1A>G (p.M1?) - ATRIP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.192G>A r.(?) p.(Gly64=) - likely benign g.48508081G>A - TREX1(NM_033629.6):c.27G>A (p.G9=) - ATRIP_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.197T>C r.(?) p.(Met66Thr) - VUS g.48508086T>C g.48466687T>C TREX1(NM_007248.4):c.2T>C (p.M1?) - ATRIP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/+? 1 c.203C>A r.(?) p.(Thr68Asn) - likely pathogenic g.48508092C>A g.48466693C>A - - TREX1_000057 - Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - 0 - Boukje de Vries
?/. - c.208_210dup r.(?) p.(Ile70dup) - VUS g.48508097_48508099dup - TREX1(NM_007248.4):c.13_15dupATC (p.I5dup) - ATRIP_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 c.217G>A r.(?) p.(Asp73Asn) - pathogenic g.48508106G>A g.48466707G>A - - TREX1_000013 Functional tests reported with variant PubMed: Lee-Kirsch 2007 - - Germline - - - 0 - Boukje de Vries
+/? 1 c.217G>A r.(?) p.(Asp73Asn) - pathogenic g.48508106G>A g.48466707G>A - - TREX1_000013 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.217G>A r.(?) p.(Asp73Asn) - pathogenic g.48508106G>A g.48466707G>A - - TREX1_000013 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.217G>A r.(?) p.(Asp73Asn) - pathogenic g.48508106G>A g.48466707G>A - - TREX1_000013 - PubMed: Haaxma 2010 - - Germline - - - 0 - Boukje de Vries
?/+? 1 c.223dup r.(?) p.(Glu75Glyfs*82) - VUS g.48508112dup g.48466713dup 58_59insG - TREX1_000014 - PubMed: Crow 2006 - - Germline - - - 0 - Boukje de Vries
+/? 1 c.223dup r.(?) p.(Glu75Glyfs*82) - pathogenic g.48508112dup g.48466713dup - - TREX1_000014 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.223dup r.(?) p.(Glu75Glyfs*82) - pathogenic g.48508112dup g.48466713dup - - TREX1_000014 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.223dup r.(?) p.(Glu75Glyfs*82) - pathogenic g.48508112dup g.48466713dup - - TREX1_000014 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+?/? 1 c.260C>G r.(?) p.(Thr87Arg) - likely pathogenic g.48508149C>G g.48466750C>G 95C>G - TREX1_000049 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
?/. - c.260C>T r.(?) p.(Thr87Met) - VUS g.48508149C>T - 95C>T (T32M) - TREX1_000066 - PubMed: Zhou 2018 - - Germline - - - 0 - LOVD
-?/. - c.307C>T r.(?) p.(Pro103Ser) - likely benign g.48508196C>T g.48466797C>T TREX1(NM_007248.4):c.112C>T (p.P38S) - ATRIP_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.309del r.(?) p.(Thr104ProfsTer16) - pathogenic g.48508198del - TREX1(NM_007248.4):c.114delC (p.T39Pfs*16) - ATRIP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 c.309dup r.(?) p.(Thr104Hisfs*53) - pathogenic g.48508198dup g.48466799dup 144dupC - TREX1_000054 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+?/. - c.309dup r.(?) p.(Thr104HisfsTer53) - likely pathogenic g.48508198dup g.48466799dup TREX1(NM_007248.4):c.114dupC (p.T39Hfs*53) - ATRIP_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.310A>C r.(?) p.(Thr104Pro) - likely benign g.48508199A>C g.48466800A>C TREX1(NM_007248.4):c.115A>C (p.T39P) - ATRIP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 c.315_316del r.(?) p.(Gln106Glyfs*50) - pathogenic g.48508204_48508205del g.48466805_48466806del 150_151delTC - TREX1_000036 - PubMed: Ramantani 2010 - - Germline - - - 0 - Boukje de Vries
+/? 1 c.315_316del r.(?) p.(Gln106Glyfs*50) - pathogenic g.48508204_48508205del g.48466805_48466806del 150_151delTC - TREX1_000036 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
-?/. - c.348G>A r.(?) p.(=) - likely benign g.48508237G>A - TREX1(NM_007248.4):c.153G>A (p.P51=) - ATRIP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 c.358_360dup r.(?) p.(Asp120dup) - likely pathogenic g.48508247_48508249dup g.48466848_48466850dup - - TREX1_000062 - - - - Germline yes - - 0 - Wenjuan Qiu
-/. - c.363G>A r.(?) p.(Lys121=) - benign g.48508252G>A g.48466853G>A TREX1(NM_007248.4):c.168G>A (p.K56=), TREX1(NM_007248.5):c.168G>A (p.K56=), TREX1(NM_033629.6):c.198G>A (p.K66=) - ATRIP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.363G>A r.(?) p.(Lys121=) - benign g.48508252G>A g.48466853G>A TREX1(NM_007248.4):c.168G>A (p.K56=), TREX1(NM_007248.5):c.168G>A (p.K56=), TREX1(NM_033629.6):c.198G>A (p.K66=) - ATRIP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.363G>A r.(?) p.(Lys121=) - benign g.48508252G>A - TREX1(NM_007248.4):c.168G>A (p.K56=), TREX1(NM_007248.5):c.168G>A (p.K56=), TREX1(NM_033629.6):c.198G>A (p.K66=) - ATRIP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.377T>C r.(?) p.(Val126Ala) - VUS g.48508266T>C g.48466867T>C TREX1(NM_007248.4):c.182T>C (p.V61A) - ATRIP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 1 c.377_378dup r.(?) p.(Ala127Trpfs*17) - VUS g.48508266_48508267dup g.48466867_48466868dup 212_213dupTG - TREX1_000018 - PubMed: Rice 2007 - - Germline - - - 0 - Boukje de Vries
+/? 1 c.377_378dup r.(?) p.(Ala127Trpfs*17) - pathogenic g.48508266_48508267dup g.48466867_48466868dup 212_213dupTG - TREX1_000018 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.401_408dup r.(?) p.(Ser137Leufs*9) - pathogenic g.48508290_48508297dup g.48466891_48466898dup - - TREX1_000032 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.405dup r.(?) p.(Ala136Serfs*21) - pathogenic g.48508294dup g.48466895dup - - TREX1_000047 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
-?/. - c.446C>T r.(?) p.(Ala149Val) - likely benign g.48508335C>T - TREX1(NM_007248.4):c.251C>T (p.A84V) - ATRIP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.455G>A r.(?) p.(Arg152His) - pathogenic (recessive) g.48508344G>A - 290G>A (Arg97His) - TREX1_000064 - PubMed: Mahler 2019 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.455G>A r.(?) p.(Arg152His) - likely pathogenic g.48508344G>A - TREX1(NM_033629.6):c.290G>A (p.R97H) - TREX1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.457dup r.(?) p.(Gln153Profs*4) - likely pathogenic (dominant) g.48508346dup - 459dup (C154fs) - TREX1_000067 - PubMed: Zhou 2018 - - Germline - - - 0 - LOVD
+/. - c.459dup r.(?) p.(Cys154MetfsTer3) - pathogenic g.48508348dup g.48466949dup TREX1(NM_007248.4):c.264dupA (p.C89Mfs*3) - ATRIP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.459dup r.(?) p.(Cys154MetfsTer3) - pathogenic g.48508348dup g.48466949dup - - ATRIP_000016 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - 0 - LOVD
+?/. 1 c.459dup r.(?) p.(Cys154Metfs*3) - likely pathogenic g.48508348dup - c.459dup - ATRIP_000016 - PubMed: Zhou-2011 - - Unknown - - - 0 - LOVD
-?/. - c.477G>C r.(?) p.(Leu159=) - likely benign g.48508366G>C g.48466967G>C TREX1(NM_033629.6):c.312G>C (p.L104=) - ATRIP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.504G>A r.(?) p.(Arg168=) - likely benign g.48508393G>A g.48466994G>A TREX1(NM_007248.4):c.309G>A (p.R103=) - ATRIP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 c.506G>A r.(?) p.(Arg169His) - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 Functional tests reported with variant PubMed: Crow 2006 - - Germline - - - 0 - Boukje de Vries
+/? 1 c.506G>A r.(?) p.(Arg169His) - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/? 1 c.506G>A r.(?) p.(Arg169His) - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+?/? 1 c.506G>A r.(?) p.(Arg169His) - likely pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
+/+ 1 c.506G>A r.(?) p.(Arg169His) - pathogenic g.48508395G>A g.48466996G>A - - TREX1_000006 Functional tests reported with variant Prof. YJ Crow, Univ Manchester, unpublished - - Germline - - - 0 - Boukje de Vries
+?/. - c.506G>A r.(?) p.(Arg169His) - likely pathogenic g.48508395G>A g.48466996G>A TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341G>A (p.R114H) - TREX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.506G>A r.(?) p.(Arg169His) - pathogenic g.48508395G>A g.48466996G>A TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341G>A (p.R114H) - TREX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.506G>A r.(?) p.(Arg169His) - pathogenic g.48508395G>A g.48466996G>A TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341G>A (p.R114H) - TREX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.506G>A r.(?) p.(Arg169His) - likely pathogenic g.48508395G>A g.48466996G>A TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341G>A (p.R114H) - TREX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.513A>G r.(?) p.(=) - likely benign g.48508402A>G - TREX1(NM_007248.4):c.318A>G (p.P106=) - ATRIP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/+? 1 c.530T>C r.(?) p.(Val177Ala) - VUS g.48508419T>C g.48467020T>C - - TREX1_000016 - PubMed: Rice 2007 - - Germline - - - 0 - Boukje de Vries
?/+? 1 c.531_533dup r.(?) p.(Ala178dup) - VUS g.48508420_48508422dup g.48467021_48467023dup 366_368dupGGC - TREX1_000019 - PubMed: Rice 2007 - - Germline - - - 0 - Boukje de Vries
+?/. - c.539A>G r.(?) p.(Asn180Ser) - likely pathogenic g.48508428A>G g.48467029A>G TREX1 c.539A>G, p.Asn180Ser - ATRIP_000059 heterozygous PubMed: Liu 2020 - rs757863487 Germline/De novo (untested) ? 1/64 - 0 - LOVD
+/+ 1 c.540dup r.(?) p.(Gly181Trpfs*2) - pathogenic g.48508429dup g.48467030dup - - TREX1_000008 - PubMed: Rice 2007 - - Germline - - - 0 - Boukje de Vries
-?/- 1 c.540dup r.(?) p.(Gly181Trpfs*2) - likely benign g.48508429dup g.48467030dup - - TREX1_000008 - PubMed: Rice 2007 - - Germline - - - 0 - Boukje de Vries
-?/? 1 c.540T>C r.(=) p.(=) - likely benign g.48508429T>C g.48467030T>C - - TREX1_000053 Silent mutation p.(Asn124Asn) Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
?/. - c.547C>T r.(?) p.(Arg183Cys) ACMG VUS g.48508436C>T - - - TREX1_000065 ACMG: PM2, PP3: Class 3 - ClinVar-000535847 - Germline ? - - - - Andreas Laner
-?/. - c.552C>T r.(?) p.(Tyr184=) - likely benign g.48508441C>T g.48467042C>T TREX1(NM_007248.4):c.357C>T (p.Y119=), TREX1(NM_007248.5):c.357C>T (p.Y119=) - ATRIP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.552C>T r.(?) p.(Tyr184=) - likely benign g.48508441C>T g.48467042C>T TREX1(NM_007248.4):c.357C>T (p.Y119=), TREX1(NM_007248.5):c.357C>T (p.Y119=) - ATRIP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.553G>A r.(?) p.(Asp185Asn) - VUS g.48508442G>A - TREX1(NM_007248.4):c.358G>A (p.D120N) - ATRIP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/+? 1 c.558_573dup r.(?) p.(Glu192Profs*24) - VUS g.48508447_48508462dup g.48467048_48467063dup - - TREX1_000020 - PubMed: Rice 2007 - - Germline - - - 0 - Boukje de Vries
?/? 1 c.562del r.(?) p.(Leu188Cysfs*27) - VUS g.48508451del g.48467052del - - TREX1_000024 - PubMed: Rice 2007 - - Germline - - - 0 - Boukje de Vries
+?/. - c.562del r.(?) p.(Leu188CysfsTer27) - likely pathogenic g.48508451del g.48467052del NM_033629.6:c.397del - TREX1_000024 - PubMed: Lefebvre 2021 - - Germline - - - 0 - Johan den Dunnen
?/. - c.572C>T r.(?) p.(Ala191Val) - VUS g.48508461C>T g.48467062C>T TREX1(NM_007248.4):c.377C>T (p.A126V) - ATRIP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 c.580_581del r.(?) p.(Ala194Tyrfs*16) - pathogenic g.48508469_48508470del g.48467070_48467071del 415_416delGC - TREX1_000052 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - Germline - - - 0 - Lampros Mavrogiannis
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