| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 2-74600063-G-A | DCTN1 | c.445C>T | p.R149* | Nonsense | 7/32 | - |
| 8-67514698-TT-CA | MYBL1 | c.80_81delAAinsTG | p.K27M | Missense | 2/16 | - |
| 4-72629190-G-T | GC | c.636C>A | p.L212= | Synonymous | 6/13 | - |
| 7-40118378-G-A | CDK13 | c.2957G>A | p.R986H | Missense | 11/14 | - |
| 4-72629190-G-A | GC | c.636C>T | p.L212= | Synonymous | 6/13 | - |
| 7-140402789-G-A | NDUFB2 | c.222G>A | p.W74* | Nonsense | 2/4 | - |
| 22-41564765-C-T | EP300 | c.4066C>T | p.R1356* | Nonsense | 25/31 | - |
| 8-38273565-GAC-CAT | FGFR1 | c.1675_1677delGTCinsATG | p.V559M | Missense | 13/18 | - |
| 8-38272406-T-G | FGFR1 | c.1868A>C | p.D623A | Missense | 14/18 | - |
| 6-135539010-C-G | MYB | c.2178C>G | p.S726R | Missense | 16/16 | - |
| 6-135539010-C-A | MYB | c.2178C>A | p.S726R | Missense | 16/16 | - |
| 6-135539008-A-C | MYB | c.2176A>C | p.S726R | Missense | 16/16 | - |
| 4-1821068-G-C | LETM1 | c.1740C>G | p.S580R | Missense | 11/14 | - |
| 4-1821068-G-T | LETM1 | c.1740C>A | p.S580R | Missense | 11/14 | - |
| 4-1821070-T-G | LETM1 | c.1738A>C | p.S580R | Missense | 11/14 | - |
| 15-93567613-A-T | CHD2 | c.5165A>T | p.D1722V | Missense | 39/39 | - |
| 5-140710553-C-T | PCDHGA1 | c.302C>T | p.P101L | Missense | 1/4 | - |
| 4-72629190-G-C | GC | c.636C>G | p.L212= | Synonymous | 6/13 | - |
| 4-72622446-G-A | GC | c.1017C>T | p.N339= | Synonymous | 8/13 | - |
| 20-62197125-G-A | HELZ2 | c.3050C>T | p.A1017V | Missense | 9/20 | - |
| 8-59498262-C-T | NSMAF | c.2608G>A | p.V870I | Missense | 30/31 | - |
| 17-42855228-C-T | ADAM11 | c.2067C>T | p.H689= | Synonymous | 23/27 | - |
| X-76937777-C-T | ATRX | c.2971G>A | p.E991K | Missense | 9/35 | - |
| 4-37447119-A-C | NWD2 | c.3509A>C | p.N1170T | Missense | 7/7 | - |
| 7-105189134-C-T | RINT1 | c.973C>T | p.R325W | Missense | 7/15 | - |
| 10-129904112-G-A | MKI67 | c.5992C>T | p.R1998* | Nonsense | 13/15 | - |
| 3-64633620-C-G | ADAMTS9 | c.1706G>C | p.G569A | Missense | 11/40 | - |
| 19-15132166-G-A | CCDC105 | c.876G>A | p.A292= | Synonymous | 4/7 | - |
| 19-2213961-G-A | DOT1L | c.1773G>A | p.A591= | Synonymous | 18/28 | - |
| 19-2213961-G-C | DOT1L | c.1773G>C | p.A591= | Synonymous | 18/28 | - |
| 19-2213961-G-T | DOT1L | c.1773G>T | p.A591= | Synonymous | 18/28 | - |
| X-53590777-C-T | HUWE1 | c.7035G>A | p.E2345= | Synonymous | 52/84 | - |
| 19-15132166-G-C | CCDC105 | c.876G>C | p.A292= | Synonymous | 4/7 | - |
| 19-15132166-G-T | CCDC105 | c.876G>T | p.A292= | Synonymous | 4/7 | - |
| 12-10783793-G-A | STYK1 | c.302C>T | p.P101L | Missense | 5/11 | - |
| 3-195485996-A-G | MUC4 | c.14985T>C | p.F4995= | Synonymous | 17/25 | - |
| X-132161649-A-C | USP26 | c.600T>G | p.S200= | Synonymous | 1/1 | - |
| X-132161649-A-G | USP26 | c.600T>C | p.S200= | Synonymous | 1/1 | - |
| X-132161649-A-T | USP26 | c.600T>A | p.S200= | Synonymous | 1/1 | - |
| 15-45559715-G-A | SLC28A2 | c.1005G>A | p.A335= | Synonymous | 11/18 | - |
| 15-45559715-G-C | SLC28A2 | c.1005G>C | p.A335= | Synonymous | 11/18 | - |
| 15-45559715-G-T | SLC28A2 | c.1005G>T | p.A335= | Synonymous | 11/18 | - |
| 1-156509309-G-T | IQGAP3 | c.2913C>A | p.A971= | Synonymous | 25/38 | - |
| 1-156509309-G-C | IQGAP3 | c.2913C>G | p.A971= | Synonymous | 25/38 | - |
| 1-156509309-G-A | IQGAP3 | c.2913C>T | p.A971= | Synonymous | 25/38 | - |
| 13-29041734-A-T | FLT1 | c.85T>A | p.L29I | Missense | 2/30 | - |
| 10-97396951-T-C | ALDH18A1 | c.457A>G | p.I153V | Missense | 5/18 | - |
| 7-140454009-G-T | BRAF | c.1719C>A | p.I573= | Synonymous | 14/18 | - |
| 7-140454009-G-A | BRAF | c.1719C>T | p.I573= | Synonymous | 14/18 | - |
| 8-121322292-G-T | COL14A1 | c.4446G>T | p.P1482= | Synonymous | 37/48 | - |
| 8-121322292-G-A | COL14A1 | c.4446G>A | p.P1482= | Synonymous | 37/48 | - |
| 8-121322292-G-C | COL14A1 | c.4446G>C | p.P1482= | Synonymous | 37/48 | - |
| 17-7221962-G-A | NEURL4 | c.3716C>T | p.T1239M | Missense | 23/29 | - |
| 7-140402788-G-A | NDUFB2 | c.221G>A | p.W74* | Nonsense | 2/4 | - |
| 13-29041677-T-C | FLT1 | c.142A>G | p.T48A | Missense | 2/30 | - |
| 18-28914016-A-T | DSG1 | c.856A>T | p.N286Y | Missense | 8/15 | - |
| 13-114287557-C-T | TFDP1 | c.431C>T | p.A144V | Missense | 6/12 | - |
| 12-32260373-G-A | BICD1 | c.108G>A | p.E36= | Synonymous | 1/10 | - |
| 9-6012858-G-A | RANBP6 | c.2750C>T | p.P917L | Missense | 1/1 | - |