Full data view for gene TARDBP

Information The variants shown are described using the NM_007375.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white 53y - - - 2 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - France white 57y - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - France white 63y - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white 72y01m - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - ALS10 - - - - - Italy white 35y06m - - - 2 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white 59y - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white 60y05m - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10, cancer, lung - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10, cancer, lung - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10, cancer, lung - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10, cancer, lung - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10, cancer, lung - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10, cancer, lung - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/+ 6 c.(1144G>A) r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - ALS10 - - - - - Italy white - - - - 1 Marc Cruts
+/. 6 c.1144G>A r.(?) p.(Ala382Thr) Maternal (confirmed) - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Chio 2012, Journal: Chio 2012 - - Germline yes - - - - DNA PCR, SEQ - - FTDALS - PubMed: Chio 2012, Journal: Chio 2012 3-generation family, 4 affecteds (F, 3M) M no Italy Sardinia 46y - - - 4 Johan den Dunnen
+/. 6 c.1144G>A r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Chio 2012, Journal: Chio 2012 - - Unknown yes - - - - DNA PCR, SEQ - - FTDALS - PubMed: Chio 2012, Journal: Chio 2012 mother of patient F no Italy Sardinia 73y - - - 1 Johan den Dunnen
+/. 6 c.1144G>A r.(?) p.(Ala382Thr) Unknown - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Chio 2012, Journal: Chio 2012 - - Unknown - - - - - DNA PCR, SEQ - - ALS - PubMed: Chio 2012, Journal: Chio 2012 2-generation family, 1 affected (other family members not tested) M no Italy Sardinia >39y - - - 1 Johan den Dunnen
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Lattante 2012 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: Lattante 2012 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Kabashi 2008 - - Germline - - - - - DNA SEQ - - ALS - PubMed: Kabashi 2008 - - - France - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Corrado 2009 - - Germline - - - - - DNA SEQ - - ALS - PubMed: Corrado 2009 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Corrado 2009 - - Germline - - - - - DNA SEQ - - ALS - PubMed: Corrado 2009 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Corrado 2009 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: Corrado 2009 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Corrado 2009 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: Corrado 2009 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Corrado 2009 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: Corrado 2009 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Corrado 2009 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: Corrado 2009 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Corrado 2009 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: Corrado 2009 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Del Bo 2009 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: Del Bo 2009 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Conforti 2011 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: Conforti 2011 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: De Marco 2011 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: De Marco 2011 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Chio' 2011 - - Germline - - - - - DNA SEQ - - ALS - PubMed: Chio' 2011 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Chio' 2011 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: Chio' 2011 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Piaceri 2012 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: Piaceri 2012 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Borghero 2011 - - Unknown - - - - - DNA SEQ - - ALS, FTLDTDP;PPA - PubMed: Borghero 2011 - - - Italy - - - - - 1 Serena Lattante
+/? 6 c.1144G>A r.(?) p.(Ala382Thr) Parent #1 - pathogenic g.11082610G>A g.11022553G>A - - TARDBP_000041 - PubMed: Mosca 2012 - - Unknown - - - - - DNA SEQ - - ALS - PubMed: Mosca 2012 - - - Italy - - - - - 1 Serena Lattante
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