Case no | No. of genes | The list of genes | No. of variants | The list of variants |
---|---|---|---|---|
1 | 2 | BRCA1 PALB2 | 2 | BRCA1 p.(E1257fs) c.3770_3771delAG PALB2 p.(I887fs) c.2659_2660delAT |
2 | 1 | BRCA2 | 2 | BRCA2 p.(E1571fs) c.4712_4713delAG BRCA2 p.(N372H) c.1114A > C |
3 | 1 | PALB2 | 2 | PALB2 p.(F1181fs) c.3540_3541delAT PALB2 p.(V870fs) c.2607delC |
4 | 2 | BRCA2 PALB2 | 2 | BRCA2 p.(V2503fs) c.7506_7507insA PALB2 p.(I887fs) c.2659_2660delAT |
5 | 2 | BRCA1 PALB2 | 2 | BRCA1 p.(K654fs) c.1960_1961insG PALB2 p.(M723fs) c.2167_2168delAT |
6 | 1 | PALB2 | 2 | PALB2 p.(P713fs) c.2138delC PALB2 p.(Y743*) c.2229T > A |
7 | 1 | BRCA2 | 2 | BRCA2 p.(Q2499*) c.7495C > T BRCA2 c.476-3C > T |
8 | 2 | BRCA1 BRCA2 | 2 | BRCA1 p.(R1720Q) c.5159G > A BRCA2 p.(W2970*) c.8910G > A |
9 | 1 | BRCA2 | 2 | BRCA2 p.(S2186fs) c.6556_6557insA BRCA2 p.(X159_splice) c.476-2A > G |
10 | 2 | BRCA1 BRCA2 | 2 | BRCA1 p.(S267fs) c.799_800insT BRCA2 p.(T912fs) c.2734_2735insA |
11 | 1 | BRCA2 | 3 | BRCA2 p.(L1635*) c.4904 T > A BRCA2 p.(S2186fs) c.6556_6557insA BRCA2 p.(X159_splice) c.476-2A > G |
12 | 2 | BRCA1 BRCA2 | 3 | *BRCA1 c.5137 + 1G > A BRCA2 p.(Q2539*) c.7615C > T BRCA2 p.(X2659_splice) c.7976 + 2C > T |
13 | 2 | BRCA2 PALB2 | 4 | BRCA2 p.(E1493fs) c.4477delG BRCA2 p.(Q3227*) c.9679C > T BRCA2 p.(W194*) c.582G > A PALB2 p.(E1018*) c.3052G > T |
14 | 2 | BRCA1 BRCA2 | 5 | BRCA1 p.(T1376fs) c.4126_4127insA BRCA2 p.(E33*) c.96_97insT BRCA2 p.(S3041fs) c.9121_9122insT BRCA2 p.(S3147fs) c.9439_9440insT BRCA2 p.(T912fs) c.2734_2735insA |
15 | 2 | BRCA1 BRCA2 | 5 | BRCA1 p.(Q855*) c.2563C > T BRCA1 p.(X1760_splice) c.5341-3C > T BRCA2 p.(Q1124*) c.3370C > T BRCA2 p.(Q126*) c.376C > T BRCA2 p.(Q3295*) c.9883C > T |
16 | 3 | BRCA1 BRCA2 PALB2 | 5 | BRCA1 p.(Q1867*) c.5599C > T BRCA2 p.(Q2829*) c.8485C > T BRCA2 p.(Q649*) c.1945C > T BRCA2 c.6842-1G > A PALB2 c.2586 + 1G > A |
17 | 3 | BRCA1 BRCA2 PALB2 | 7 | BRCA1 p.(X27_splice) c.80 + 1G > A BRCA1 p.(Q1577*) c.4729C > T BRCA2 p.(R3052Q) c.9155G > A BRCA2 p.(R2520*) c.7558C > T PALB2 p.(Q141*) c.421C > T PALB2 p.(Q228*) c.682C > T PALB2 p.(Q921*) c.2761C > T |
18 | 3 | BRCA1 BRCA2 PALB2 | 8 | BRCA1 p.(S1180fs) c.3538_3539insA BRCA2 p.(S538fs) c.1612_1613insA BRCA2 p.(S973fs) c.2916_2917insA BRCA2 p.(T598fs) c.1792_1793insA PALB2 p.(D1125fs) c.3372_3373insA PALB2 p.(N342fs) c.1025_1026insA PALB2 p.(N368fs) c.1103_1104insA PALB2 p.(S357fs) c.1068_1069insA |
19 | 2 | BRCA1 BRCA2 | 10 | BRCA1 p.(Q1227*) c.3679C > T BRCA1 p.(Q1625*) c.4873C > T BRCA1 p.(Q1867*) c.5599C > T BRCA1 p.(W1739*) c.5216G > A BRCA1 p.(W1739*) c.5217G > A BRCA2 p.(X2985_splice) c.8953 + 1G > A BRCA2 p.(D2723N) c.8167G > A BRCA2 p.(Q66*) c.196C > T BRCA2 p.(W3191*) c.9572G > A BRCA2 p.(W993*) c.2978G > A |
20 | 2 | BRCA1 BRCA2 | 15 | BRCA1 p.(X1366_splice) c.4096 + 1G > A BRCA1 p.(X1559_splice) c.4738 + 1G > A BRCA1 p.(X183_splice) c.547 + 1G > A BRCA1 p.(W321*) c.963G > A BRCA2 p.(X106_splice) c.317-3C > T BRCA2 p.(G2313D) c.6938G > A BRCA2 p.(X2602_splice) c.7806-3C > T BRCA2 p.(E2220fs) c.6658delG BRCA2 p.(Q2100*) c.6298C > T BRCA2 p.(Q2491*) c.7471C > T BRCA2 p.(Q2506*) c.7516C > T BRCA2 p.(Q2823*) c.8467C > T BRCA2 p.(Q66*) c.196C > T BRCA2 p.(R2494*) c.7480C > T BRCA2 p.(W2990*) c.8969G > A |
21 | 3 | BRCA1 BRCA2 PALB2 | 16 | BRCA1 p.(Q1135*) c.3403C > T BRCA1 p.(Q538*) c.1612C > T BRCA1 p.(Q905*) c.2713C > T BRCA1 p.(T1706I) c.5117C > T BRCA1 p.(W385*) c.1155G > A BRCA2 p.(X2602_splice) c.7805 + 1G > A BRCA2 p.(Q1379*) c.4135C > T BRCA2 p.(Q1623*) c.4867C > T BRCA2 p.(Q2823*) c.8467C > T BRCA2 p.(R2659K) c.7976G > A BRCA2 p.(W194*) c.581G > A BRCA2 p.(W2574*) c.7722G > A BRCA2 p.(W2586*) c.7758G > A BRCA2 p.(W2725*) c.8174G > A PALB2 p.(Q1023*) c.3067C > T PALB2 p.(Q856*) c.2566C > T |
22 | 3 | BRCA1 BRCA2 PALB2 | 19 | BRCA1 p.(X71_splice) c.212 + 1G > A BRCA1 c.4096 + 1G > A c.4096 + 1G > A *&BRCA1 c.5215 + 1G > A *&BRCA1 c.5256 + 1G > A BRCA1 p.(X183_splice) c.547 + 1G > A BRCA1 p.(A1729V) c.5186C > T BRCA1 p.(W1836*) c.5507G > A BRCA2 p.(X142_splice) c.425 + 1G > A BRCA2 c.8488-1G > A c.8488-1G > A BRCA2 p.(X3217_splice) c.9649-3C > T BRCA2 p.(Q1138*) c.3412C > T BRCA2 p.(Q2024*) c.6070C > T BRCA2 p.(W2626*) c.7878G > A PALB2 p.(X839_splice) c.2515-3C > T PALB2 p.(X1038_splice) c.3114-1G > A PALB2 p.(X1117_splice) c.3351-3C > T PALB2 p.(E1002fs) c.3004delG PALB2 p.(Q370*) c.1108C > T PALB2 p.(Q568*) c.1702C > T |
23 | 3 | BRCA1 BRCA2 PALB2 | 24 | BRCA1 p.(K1780fs) c.5339_5340insA BRCA1 p.(N1542fs) c.4625_4626insA BRCA1 p.(Q1096fs) c.3285_3286insA BRCA1 p.(Q94fs) c.279_280insT BRCA1 p.(R1012fs) c.3034_3035insA BRCA1 p.(S267fs) c.799_800insT BRCA1 p.(T1376fs) c.4126_4127insA BRCA1 p.(V409fs) c.1224_1225insA BRCA2 p.(E33*) c.96_97insT BRCA2 p.(L446fs) c.1337_1338insT BRCA2 p.(Q2499fs) c.7494_7495insA BRCA2 p.(Q2941fs) c.8820_8821insA BRCA2 p.(Q937fs) c.2808_2809insA BRCA2 p.(R645fs) c.1933_1934insA BRCA2 p.(S2056fs) c.6164_6165insT BRCA2 p.(S2976fs) c.8926_8927insA BRCA2 p.(T1483fs) c.4447_4448insA BRCA2 p.(T1858fs) c.5572_5573insA BRCA2 p.(T2197fs) c.6589_6590insA %BRCA2 p.(T441fs) c.1317delT, c.1320_1321insT BRCA2 p.(T912fs) c.2734_2735insA PALB2 p.(E1002fs) c.3003_3004insA PALB2 p.(L58fs) c.173_174insT PALB2 p.(T841fs) c.2521_2522insA |
24 | 3 | BRCA1 BRCA2 PALB2 | 25 | BRCA1 p.(E730fs) c.2187_2188insA BRCA1 p.(H1402fs) c.4203_4204insA BRCA1 p.(I1108fs) c.3322_3323insA BRCA1 p.(N1018fs) c.3053_3054insA BRCA1 p.(N1309fs) c.3926_3927insA BRCA1 p.(P371fs) c.1110_1111insT BRCA1 p.(P684fs) c.2048_2049insA BRCA1 p.(Q1096fs) c.3285_3286insA BRCA1 p.(Q1323fs) c.3966_3967insA BRCA2 p.(D2819*) c.8454_8455insT BRCA2 p.(D2900fs) c.8697_8698insA BRCA2 p.(E1593fs) c.4776_4777insA BRCA2 p.(E2301fs) c.6900_6901insA BRCA2 p.(E33*) c.96_97insT BRCA2 p.(L61fs) c.181_182insA BRCA2 p.(N3213fs) c.9638_9639insA BRCA2 p.(Q2941fs) c.8820_8821insA BRCA2 p.(Q937fs) c.2808_2809insA BRCA2 p.(S131fs) c.391_392insT BRCA2 p.(S2616fs) c.7846_7847insT BRCA2 p.(S3241fs) c.9721_9722insT BRCA2 p.(T1483fs) c.4447_4448insA BRCA2 p.(T2207fs) c.6619_6620insA PALB2 p.(A770fs) c.2307_2308insT PALB2 p.(L58fs) c.173_174insT |