Table 3.
The nonsynonymus mutations in non-FV deficiency patient population.
| Exon | refGene | AAChange | Frequency SNP | |
|---|---|---|---|---|
| exon25 | T6673C | X2225Q | 0.00128 | Stoploss |
| exon25 | A6665G | D2222G | 0.02046 | Nonsynonymoussnv |
| exon24 | A6452G | K2151R | 0.00128 | Nonsynonymoussnv |
| exon23 | C6298T | R2100C | 0.00128 | Nonsynonymoussnv |
| exon23 | G6277A | G2093R | 0.00128 | Nonsynonymoussnv |
| exon20 | G5828C | G1943A | 0.00128 | Nonsynonymoussnv |
| exon17 | G5558T | G1853V | 0.01918 | Nonsynonymoussnv |
| exon17 | A5552C | E1851A | 0.00128 | Nonsynonymoussnv |
| exon17 | A5431T | M1811L | 0.00128 | Nonsynonymoussnv |
| exon16 | G5378T | R1793I | 0.00128 | Nonsynonymoussnv |
| exon16 | A5290G | M1764V | 0.23402 | Nonsynonymoussnv |
| exon16 | G5275C | D1759H | 0.00128 | Nonsynonymoussnv |
| exon13 | C4210T | P1404S | 0.12276 | Nonsynonymoussnv |
| exon13 | C4189T | L1397F | 0.67008 | Nonsynonymoussnv |
| exon13 | T4000C | F1334L | 0.00128 | Nonsynonymoussnv |
| exon13 | A3980G | H1327R | 0.02174 | Nonsynonymoussnv |
| exon13 | C3853A | L1285I | 0.09335 | Nonsynonymoussnv |
| exon13 | C3446T | S1149F | 0.00384 | Nonsynonymoussnv |
| exon13 | A2998G | K1000E | 0.00128 | Nonsynonymoussnv |
| exon13 | T2911C | W971R | 0.00128 | Nonsynonymoussnv |
| exon13 | A2773G | K925E | 0.21228 | Nonsynonymoussnv |
| exon13 | A2594G | H865R | 0.21228 | Nonsynonymoussnv |
| exon13 | A2573G | K858R | 0.21228 | Nonsynonymoussnv |
| exon13 | A2450C | N817T | 0.02174 | Nonsynonymoussnv |
| exon13 | G2219A | R740Q | 0.00128 | Nonsynonymoussnv |
| exon13 | A2032G | K678E | 0.00384 | Nonsynonymoussnv |
| exon10 | A1601G | Q534R | 1 | Nonsynonymoussnv |
| exon10 | G1538A | R513K | 0.66624 | Nonsynonymoussnv |
| exon11 | T1699C | C567R | 0.00128 | Nonsynonymoussnv |
| exon8 | T1238C | M413T | 0.02558 | Nonsynonymoussnv |
| exon7 | C1106T | A369V | 0.00512 | Nonsynonymoussnv |
| exon7 | A1000G | R334G | 0.00256 | Nonsynonymoussnv |
| exon6 | C801A | F267L | 0.00128 | Nonsynonymoussnv |
| exon4 | T398C | F133S | 0.00128 | Nonsynonymoussnv |
Among these nonsynoymous mutations, 8 of them marked in red have high (exon16: M1764V exon13: P1404S, L1397F, K925E, H865R, K858R; exon10:Q534R, R513K) in whole-exome sequencing of OSCC tumor-normal (fresh-frozen tumors and matched whole blood) database in Taiwan.