Table 9.
Other gene mutations and inclusion in relevant database
| No. | Gene | Type | Mutation site | Amino acid changes | Exon |
Disease database
|
||
|
HGMD
|
ClinVar
|
OMIM
|
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| 1 | BARD1 | TSG | c.556A>G | p.S186G | 4|11 | / | (6/6)Uncertain Significance | / |
| EGFR | / | c.61G>A | p.A21T | 1|28 | / | / | Epidermal growth factor receptor | |
| 2 | GEN1 | / | c.181T>A | p.S61T | 3|14 | / | / | Gen endonuclease homolog 1 |
| BRCA1 | TSG | c.2387C>T | p.T796I | 10|23 | / | (8/8)Uncertain Significance | / | |
| 4 | NTRK1 | / | c.1604A>G | p.E535G | 13|17 | / | / | / |
| PDGFRA | / | c.1423G>A | p.E475K | 10|23 | / | / | / | |
| TSC2 | TSG | c.521C>T | p.S174L | 6|42 | / | (2/2)Uncertain Significance | / | |
| MSH6 | / | c.1063G>A | p.G355S | 4|10 | (4/7)Uncertain Significance(3/7)likely benign | / | ||
| 5 | EGFR | / | c.3040G>A | p.D1014N | 25|28 | / | / | Epidermal growth factor receptor |
| MTUS1 | TSG | c.2282G>A | p.S761N | 3|15 | / | / | Mitochondrial tumor suppressor 1 | |
| PTCH1 | TSG | c.2222C>T | p.A741V | 14|24 | / | (3/4)benign, (1/4)likely benign | / | |
| 6 | SDHA | TSG | c.715A>G | p.I239V | 6|15 | √ | (2/2)Uncertain significance | / |
| MTUS1 | TSG | c.1866C>G | p.N622K | 2|15 | √ | √ | Mitochondrial tumor suppressor 1 | |
| 7 | RECQL4 | / | c.1048A>G | p.R350G | 5|21 | / | (1/1)Uncertain Significance | / |
| RECQL4 | / | c.236G>A | p.G79E | 4|21 | / | / | / | |
| 8 | ATM | TSG | c.6503C>T | p.S2168L | 45|63 | / | (7/7)Uncertain Significance | Ataxia telangiectasia mutated |
| 10 | TSC2 | TSG | c.3475C>T | p.R1159W | 30|42 | / | (2/4)benign, (2/4)likely benign | / |
| FANCG | TSG | c.458C>G | p.A153G | 4|14 | / | (1/1)Uncertain Significance | / | |
| 11 | SBDS | / | c.98A>G | p.K33R | 1|5 | / | / | / |
| 12 | VHL | TSG | c.134C>T | p.P45L | 1|3 | / | / | Von Hippel-Lindau syndrome |
| FANCA | / | c.3031C>T | p.R1011C | 31|43 | / | (1/1)likely benign | / | |
| TP53 | TSG | c.620A>G | p.D207G | 6|11 | √ | / | / | |
| 13 | FANCA | / | c.2944A>G | p.T982A | 30|43 | / | (2/2)Uncertain Significance | / |
| 14 | PALLD | / | c.1011C>A | p.D337E | 3|21 | / | / | / |
| MLH3 | TSG | c.1519A>G | p.M507V | 2|13 | / | (1/1)Uncertain Significance | Mutl (E. Coli) homolog 3 | |
| SMARCA4 | TSG | c.3791C>T | p.T1264M | 28|36 | / | (3/3)Uncertain Significance | / | |
| NF1 | TSG | c.3940T>C | p.W1314R | 29|58 | / | (1/1)Uncertain Significance | / | |
| 15 | PTCH1 | TSG | c.2222C>T | p.A741V | 14|24 | / | (1/1)likely benign | / |
| GALNT12 | / | c.148C>A | p.P50T | 1|10 | / | / | / | |
| 16 | ATR | TSG | c.325C>T | p.R109W | 4|47 | / | (1/1)Uncertain Significance | Ataxia telangiectasia and Rad3 related |
| VEGFA | TSG | c.1039G>A | p.V347I | 6|8 | / | / | Vascular endothelial growth factor | |
| DIS3L2 | / | c.1642G>A | p.A548T | 13|21 | / | / | / | |
| 17 | TSC1 | TSG | c.2693C>G | p.T898S | 21|23 | √ | (3/5)likely benign, (1/5)benign, (1/5)Uncertain significance | / |
| 18 | PTCH1 | TSG | c.109G>T | p.G37W | 1|24 | √ | (1/1)Uncertain Significance | / |
| BRIP1 | / | c.3072del | p.S1025Hfs | 20|20 | √ | (1/2)likely pathogenic, (1/2)Uncertain significance | / | |
| WRN | / | c.3778G>A | p.A1260T | 32|35 | / | (2/2)Uncertain significance | werner syndrome | |
| RECQL | / | c.166G>A | p.G56R | 4|16 | / | / | / | |
| 19 | BARD1 | TSG | c.1148T>G | p.M383R | 4|11 | / | / | / |
| USHBP1 | / | c.1358C>T | p.P453L | 9|13 | / | / | / | |
| APC | TSG | c.2882A>G | p.N961S | 16|16 | / | (1/1)Uncertain Significance | Adenomatosis polyposis coli | |
| 20 | DICER1 | TSG | c.2113A>G | p.I705V | 13|27 | / | / | Multinodular goiter |
| FANCM | / | c.2762G>A | p.C921Y | 14|23 | / | / | / | |
| APC | TSG | c.5257G>C | p.A1753P | 16|16 | / | (3/3)Uncertain Significance | Adenomatosis polyposis coli | |
| NSD1 | / | c.5493T>G | p.D1831E | 16|23 | / | / | Sotos syndrome | |
| SDHA | TSG | c.739A>G | p.I247V | 6|15 | / | (4/4)Uncertain Significance | / | |
| MTUS1 | TSG | c.908A>G | p.N303S | 2|15 | / | / | Mitochondrial tumor suppressor 1 | |
| 22 | EXT2 | TSG | c.896G>A | p.R299H | 5|14 | √ | (1/2)likely benign, (1/2)uncategorized | / |
| ATM | TSG | c.1555G>A | p.V519I | 10|63 | √ | (3/3)Uncertain Significance | Ataxia telangiectasia mutated | |
| BRCA2 | TSG | c.1568A>G | p.H523R | 10|27 | √ | (1/12)benign, (9/12)likely benign, (2/12)Uncertain Significance | Fanconi anemia | |
| TP53 | TSG | c.214C>G | p.P72A | 4|11 | √ | (5/5)Uncertain Significance | / | |
| 23 | FLCN | TSG | c.1366G>C | p.D456H | 12|14 | / | / | |
| MSH2 | TSG | c.1789G>A | p.D597N | 12|16 | / | (1/1)Uncertain Significance | Colon cancer, nonpolyposis type 1 | |
| KIT | / | c.2263G>A | p.A755T | 16|21 | / | (1/2)Uncertain Significance,(1/2)uncategorized | Piebald trait | |
| 24 | BAP1 | TSG | c.1154G>A | p.R385Q | 12|17 | / | (2/2)Uncertain Significance | / |
| TSC2 | TSG | c.1609C>T | p.R537C | 16|42 | √ | (1/5)benign, (2/5)likely benign; (1/5)Uncertain Significance; (1/5)uncategorized | / | |
HGMD: Human Gene Mutation Database; OMIM: Online Mendelian Inheritance in Man; TSG: Tumor suppressor gene.