Table 3. Deleterious mutations identified in this cohort.
| Gene | Mutation | Transcript | gDNA/cDNA | Amino acid | Reported/novel |
|---|---|---|---|---|---|
| ATM | frameshift deletion | NM_000051 | c.8434_8435delTC | p.2812del | Novel |
| BRCA1 | frameshift deletion | NM_007294 | c.1934delC | p.S645fs | Novel |
| BRCA1 | frameshift deletion | NM_007294 | c.1361delG | p.S454fs | Novel |
| BRCA1 | frameshift deletion | NM_007294 | c.470_471delCT | p.S157fs | Reported, rs80357887 |
| BRCA1 | splicing | NG_005905 | g.41251910_41251919delGTAAAGAACA | Reported [30] | |
| BRCA1 | frameshift deletion | NM_007294 | c.5470_5477delATTG GGCA | p.I1824Dfs | Reported, rs80357973 |
| BRCA1 | frameshift deletion | NM_007294 | c.3770_3771delAG | p.E1257Gfs | Reported, rs80357993 |
| BRCA1 | frameshift deletion | NM_007294 | c.3228_3229delAG | p.G1077Afs | Reported, rs80357635 |
| BRCA1 | nonsense mutation | NM_007294 | c.3607C > T | p.R1203Ter | Reported, rs62625308 |
| BRCA1 | frameshift deletion | NM_007294 | c.2679_2682delGAAA | p.K893fs | Reported, rs80357596 |
| BRCA2 | nonsense mutation | NM_000059 | c.8934delA | p.E2981KfsTer7 | Novel |
| BRCA2 | nonsense mutation | NM_000059 | c.6645delC | pS2216PfsTer13 | Novel |
| BRCA2 | nonsense mutation | NM_000059 | c.5574_5577delAATT | p.I1859KfsTer3 | Novel |
| BRCA2 | nonsense mutation | NM_000059 | c.5164_5165delAG | p.S1722YfsTer4 | Reported, rs80359490 |
| BRCA2 | missense mutation | NM_000059 | c.G8243A | p.G2748D | Reported, rs80359071 |
| BRCA2 | splicing | NM_000059 | c.G631C | Reported, rs80358871 | |
| BRCA2 | frameshift deletion | NM_000059 | c.6448delA | p.K2150fs | Novel |
| BRCA2 | frameshift deletion | NM_000059 | c.2806_2809del | p.A938Pfs | Reported, rs80359351 |
| BRCA2 | frameshift deletion | NM_000059 | c.8531_8532del | p.E2844fs | Novel |
| BRCA2 | frameshift insertion | NM_000059 | c.7407dupT | p.T2469fs | Novel |
| BRCA2 | frameshift deletion | NM_000059 | c.8323delA | p.M2775CfsTer2 | Novel |
| BRIP1 | nonsense mutation | NM_032043 | c.G1343A | p.W448X | Novel |
| FANCI | nonsense mutation | NM_001113378 | c.G568T | p.E190X | Novel |
| MSH2 | nonsense mutation | NM_000251 | c.C2785T | p.R929X | Reported, |
| MUTYH | splicing | NM_001128425 | c.934–2A > G | Reported, rs77542170 | |
| RAD50 | frameshift insertion | NM_005732 | c.2157dupA | p.L719fs | Novel |
| RAD50 | frameshift deletion | NM_005732 | c.2498_2499del | p.Q833fs | Novel |
| RAD51C | splicing | NM_058216 | c.905–2A > C | Novel | |
| TP53 | missense mutation | NM_000546.5 | c.733G > A | p.G245S | Reported, rs28934575 |
| TP53 | missense mutation | NM_000546.5 | c.743G > A | p.R248Q | Reported, rs11540652 |