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Page 6 of 10 Dong et al. Neuroimmunol Neuroinflammation 2018;5:5 I http://dx.doi.org/10.20517/2347-8659.2017.47

NM_007375.3(TARDBP):c.*208G>A TARDBP FTD, ALS, dominant Likely benign 291743 275853
NM_007375.3(TARDBP):c.*214T>C TARDBP FTD, ALS, dominant Uncertain 291744 275816
significance
NM_007375.3(TARDBP):c.*505delA TARDBP FTD, ALS, dominant Uncertain 291745 275994
significance
NM_007375.3(TARDBP):c.*666G>A TARDBP FTD, ALS, dominant Uncertain 291746 275995
significance
NM_007375.3(TARDBP):c.*697G>A TARDBP ALS type 10/FTD with TDP43 Pathogenic 5239 20278
inclusions, TARDBP-related

NM_007375.3(TARDBP):c.*842G>A TARDBP FTD, ALS, dominant Uncertain 291747 275996
significance
NM_007375.3(TARDBP):c.*862G>T TARDBP FTD, ALS, dominant Uncertain 291748 275855
significance
NM_007375.3(TARDBP):c.*963C>T TARDBP FTD, ALS, dominant Uncertain 291749 275856
significance
NM_007375.3(TARDBP):c.*1008T>G TARDBP FTD, ALS, dominant Likely benign 291750 275998
NM_007375.3(TARDBP):c.*1081C>T TARDBP FTD, ALS, dominant Likely benign 291751 276021
NM_007375.3(TARDBP):c.*1084A>T TARDBP FTD, ALS, dominant Uncertain 291752 276022
significance
NM_007375.3(TARDBP):c.*1597_*1600delTGTT TARDBP FTD, ALS, dominant Uncertain 291753 275859
significance
NM_007375.3(TARDBP):c.*1622A>T TARDBP FTD, ALS, dominant Uncertain 291754 275860
significance
NM_007375.3(TARDBP):c.*1623T>A TARDBP FTD, ALS, dominant Uncertain 291756 276025
significance
NM_007375.3(TARDBP):c.*1633delT TARDBP FTD, ALS, dominant Uncertain 291755 275867
significance
NM_007375.3(TARDBP):c.*1795A>G TARDBP FTD, ALS, dominant Uncertain 291757 275817
significance
NM_007375.3(TARDBP):c.*2005T>C TARDBP FTD, ALS, dominant Uncertain 291758 276105
significance
NM_007375.3(TARDBP):c.*2029C>T TARDBP FTD, ALS, dominant Uncertain 291759 275868
significance
NM_007375.3(TARDBP):c.*2046T>G TARDBP FTD, ALS, dominant Uncertain 291760 276026
significance
NM_007375.3(TARDBP):c.*2154G>T TARDBP FTD, ALS, dominant Uncertain 291761 276108
significance
NM_007375.3(TARDBP):c.*2252A>G TARDBP FTD, ALS, dominant Uncertain 291762 275872
significance
NM_007375.3(TARDBP):c.*2294_*2295insGTTTT MASP2|TARDBP FTD, MASP2 deficiency/ALS, Benign 291763 276114
dominant
NM_007375.3(TARDBP):c.*2331A>G MASP2|TARDBP FTD, MASP2 deficiency/ALS, Likely benign 291764 275874
dominant
NM_007375.3(TARDBP):c.*2334G>A TARDBP FTD, ALS, dominant Uncertain 291765 276127
significance
NM_007375.3(TARDBP):c.*2360C>T TARDBP FTD, ALS, dominant Uncertain 291766 276128
significance
NM_007375.3(TARDBP):c.*2538delC TARDBP FTD, ALS, dominant Uncertain 291767 275875
significance
NM_007375.3(TARDBP):c.*2740G>A TARDBP FTD, ALS, dominant Likely benign 291768 276138
NM_007375.3(TARDBP):c.*2750G>A TARDBP FTD, ALS, dominant Uncertain 291769 275827
significance
NM_007375.3(TARDBP):c.*2773A>G TARDBP FTD, ALS, dominant Uncertain 291770 276140
significance
NM_007375.3(TARDBP):c.*2829dupT TARDBP FTD, ALS, dominant Uncertain 291771 275835
significance
NM_006610.3(MASP2):c.*225T>C MASP2|TARDBP FTD, MASP2 deficiency/ALS, Benign 291772 275885
dominant
NG_008734.1:g.19080G>A MASP2|TARDBP FTD, ALS, dominant Likely benign 368798 353027
NM_006610.3(MASP2):c.1617T>C (p.Asn539=) MASP2|TARDBP FTD, MASP2 deficiency/ALS, Likely benign 291779 275924
dominant
FTD: frontotemporal dementia; ALS: amyotrophic lateral sclerosis; MASP2: Mannan-binding lectin-associated serine protease-2