Table 3.
Gene | Chrom | Ref | Alt | Classification | AA change |
---|---|---|---|---|---|
PREX2 | chr8 | – | T | Frame_Shift_Ins | p.S565fs |
KDM6A | chrX | G | – | Frame_Shift_Del | p.A694fs |
PTPRC | chr1 | C | T | Nonsense_Mutation | p.Q1036* |
LTBP1 | chr2 | C | T | Intron | – |
EBF1 | chr5 | G | A | Intron | – |
DST | chr6 | A | C | Intron | – |
EEF1A1 | chr6 | C | G | Missense_Mutation | p.E268Q |
CARD11 | chr7 | G | A | Silent | p.I398I |
AMPH | chr7 | G | A | 5'UTR | – |
TRIM24 | chr7 | C | G | Intron | – |
PDCD1LG2 | chr9 | G | A | Missense_Mutation | p.R181H |
MAPK8IP1 | chr11 | G | A | Intron | – |
ZBTB16 | chr11 | G | A | Missense_Mutation | p.M348I |
KRAS | chr12 | C | A | Missense_Mutation | p.G12V |
MGA | chr15 | C | G | Silent | p.L2623L |
TP53 | chr17 | C | T | Missense_Mutation | p.E285K |
ZNF521 | chr18 | C | T | Silent | p.A182A |
TSHZ3 | chr19 | C | T | Silent | p.S837S |
DMD | chrX | G | A | Intron | – |
Chrom chromosome, REF reference base, ALT alternative base, AA change information on amino acid changes