Table 1 Mutations in nine individual genes detected by whole exome NGS
From: Malakoplakia with aberrant ALK expression by immunohistochemistry: a case report
Gene | Mutation type | Exon | Result of mutation |
|---|---|---|---|
GOT1L1 NM_152413.3 | Frameshift | 9 | c.1243dup p.T415Nfs*? |
GLIS2 NM_032575.2 | Frameshift | 6 | c.1190dup p.M398Hfs*69 |
SPOUT1 NM_016390.4 | Frameshift | 3 | c.102dup p.W35Mfs*77 |
TMEM97 NM_014573.3 | Frameshift | 3 | c.528del p.K176Nfs*188 |
MUC3A NM_005960.2 | Missense | 2 | c.1151_1152delinsCC p.M384T |
NSD2 NM_133330.2 | Frameshift | 24 | c.4028dup p.E1344Rfs*91 |
SFXN5 NM_144579.3 | Missing in frame | 1 | c.36_38del p.A13del |
ADAD1 NM_139243.4 | Frameshift | 4 | c.244del p.I82Yfs*6 |
RAD50 NM_005732.4 | Frameshift | 13 | c.2165dup p.E723Gfs*5 |