Table 5 Mutation rate and codon changes of the common mutated genes in each tumor stage
Gene | Stage 1 | Stage 2 | Stage 3 | Stage 4 | ||||
|---|---|---|---|---|---|---|---|---|
Mut.Rate (%) | HGVSc (HGVSp) | Mut.Rate (%) | HGVSc (HGVSp) | Mut.Rate (%) | HGVSc (HGVSp) | Mut.Rate (%) | HGVSc (HGVSp) | |
BRAF | 57 | c.1799 T > A (p.V600E) | 38 | c.1799 T > A (p.V600E) | 69 | c.1799 T > A (p.V600E) | 75 | c.1799 T > A (p.V600E) |
c.1801A > G (p.K601E) | c.1801A > G (p.K601E) | |||||||
c.1800G > A (p.V600V) | ||||||||
c.1467_1481delACCTACACCTCAGCA (p.P490_Q494del) | ||||||||
HRAS | 3 | c.182A > G (p.Q61R) | 2 | c.182A > G (p.Q61R) | 3 | c.182A > G (p.Q61R) | 6 | c.182A > G (p.Q61R) |
c.181C > A (p.Q61K) | c.181C > A (p.Q61K) | c.181C > A (p.Q61K) | ||||||
JMJD1C | 0 | c.4402C > T (p.Q1468*) | 2 | 2 | 2 | |||
c.2203C > T (p.Q735*) | ||||||||
c.2014A > T (p.R672*) | ||||||||
c.3491delC (p.P1164Qfs*13) | ||||||||
c.2241C > A (p.T747T) | ||||||||
MALAT1 | 1 | 6 | 1 | 4 | ||||
MUC16 | 1 | c.17957C > A (p.A5986E) | 6 | 1 | 8 | |||
c.32628A > T (p.G10876G) | ||||||||
c.41805G > A (p.L13935L) | ||||||||
c.12963 T > C (p.A4321A) | ||||||||
c.23070G > A (p.P7690P) | ||||||||
c.7382C > A (p.T2461K) | ||||||||
c.12466A > G (p.T4156A) | ||||||||
c.1295C > A (p.T432N) | ||||||||
c.18018C > A (p.H6006Q) | ||||||||
c.22026A > C (p.T7342T) | ||||||||
c.32174C > G (p.P10725R) | ||||||||
NRAS | 9 | c.182A > G (p.Q61R) | 12 | c.182A > G (p.Q61R) | 5 | c.182A > G (p.Q61R) | 6 | c.182A > G (p.Q61R) |
c.181C > A (p.Q61K) | c.181C > A (p.Q61K) | c.181C > A (p.Q61K) | c.181C > A (p.Q61K) | |||||
PDZD2 | 0 | c.2039C > G (p.P680R) | 2 | 2 | 2 | |||
c.805G > A (p.G269S) | ||||||||
c.3424_3427delACAG (p.T1142*) | ||||||||
c.3887C > A (p.A1296E) | ||||||||
c.937G > T (p.G313C) | ||||||||
PKHD1 | 1 | c.3197C > T (p.S1066L) | 2 | 1 | 2 | |||
c.8549C > A (p.T2850K) | ||||||||
c.8671C > T (p.R2891C) | ||||||||
c.1674C > T (p.L558L) | ||||||||
c.3568C > T (p.L1190F) | ||||||||
RYR1 | 1 | c.3206A > T (p.D1069V) | 2 | 1 | 2 | |||
c.3575G > T (p.S1192I) | ||||||||
c.9858G > C (p.E3286D) | ||||||||
c.6244G > A (p.E2082K) | ||||||||
c.5335C > G (p.P1779A) | ||||||||
SLA | 0 | c.225A > G (p.I75M) | 2 | 1 | 2 | |||
c.-3_1delGAAA (NA) | ||||||||
c.694A > C (p.S232R) | ||||||||
c.695G > A (p.S232N) | ||||||||
c.696C > T (p.S232S) | ||||||||
c.645_646delGA (p.N216Pfs*26) | ||||||||
TG | 3 | c.2037C > T (p.G679G) | 12 | 3 | 4 | |||
c.2462_2466delTTCAA (p.I821Kfs*4) | ||||||||
c.3737A > C (p.Q1246P) | ||||||||
c.3917G > C (p.C1306S) | ||||||||
c.4847_4853dupTCACCGT (p.S1619Hfs*12) | ||||||||
c.5673dupA (p.W1892Mfs*38) | ||||||||
c.5928_5929dupAT (p.S1977Yfs*37) | ||||||||
c.6844_6847delTTGT (p.L2282Ifs*61) | ||||||||
c.1038dupG (p.H347Afs*14) | ||||||||
c.1663G > A (p.E555K) | ||||||||
c.450G > T (p.G150G) | ||||||||
c.490 T > G (p.C164G) | ||||||||
c.5707_5708dupTT (p.C1904Sfs*7) | ||||||||
c.666 T > C (p.S222S) | ||||||||
c.1531_1534delAATG (p.N511Efs*15) | ||||||||
c.2412G > A (p.V804V) | ||||||||
c.84C > T (p.A28A) | ||||||||
c.418 T > G (p.C140G) | ||||||||
c.4544_4546delAGA (p.Q1515del) | ||||||||
TTN | 3 | c.10361-3907 T > C (NA) | 4 | 5 | 6 | |||
c.10361-4179G > A (NA) | ||||||||
c.34264 + 5360G > T (NA) | ||||||||
c.34264 + 578A > G (NA) | ||||||||
c.56257A > C (p.K18753Q) | ||||||||
c.57311_57314delCAAA (p.T19104Rfs*10) | ||||||||
c.62135-36delA (NA) | ||||||||
c.7061G > A (p.R2354H) | ||||||||
c.97072 T > A (p.W32358R) | ||||||||
c.24810G > C (p.E8270D) | ||||||||
c.68948C > T (p.T22983I) | ||||||||
c.83902C > T (p.R27968*) | ||||||||
c.97262 T > C (p.M32421T) | ||||||||
c.9769C > T (p.R3257C) | ||||||||
c.10360 + 5384 T > C (NA) | ||||||||
c.45373C > T (p.R15125*) | ||||||||
c.91311C > T (p.Y30437Y) | ||||||||