BRCA1, BRCA2, HOXB13, CHEK2, NBN, CDKN2
BRCA1: ekson 2: c.66_67insC; p.(Glu23Argfs*18), c.68_69delAG (185delAG); p.(Glu23Valfs*17) ekson 5: c.181T>G (300T>G); p.(Cys61Gly), c.190T>C (309T>C); p.(Cys64Arg), c.190T>G (309T>G); p.(Cys64Gly) ekson 11: c.3627dupA; p.(Glu1210Argfs*9), c.3700_3704delGTAAA (3819del5); p.(Val1234Glnfs*8), c.3748G>T (3867G>T); p.(Glu1250*), c.3756_3759delGTCT (3875del4); p.(Ser1253Argfs*10), c.3779delT (3896delT); p.(Leu1260Tyrfs*4), c.3817C>T (3936C>T); p.(Gln1273*), c.4035delA (4153delA); p.(Glu1346Lysfs*20), c. 4041_4042delAG (4160delAG); p.(Gly1348Asnfs*7) ekson 20: c.5232_5238delinsGTCCAAAGCGAG (5351del7ins12); p.(Asn1745Serfs*22), c.5251C>T (5370C>T); p.(Arg1751*), c.5266dupC (5382insC); p.(Gln1756Profs*74)
BRCA2: ekson 25: c.9371A>T; p.(Asn3124Ile), c.9376delC; p.(Gln3126Serfs*37), c.9403delC; p.(Leu3135Phefs*28)
CHEK2: c.444+1G>A (IVS2+1G-A); c.1100delC, p.(Thr367Metfs*15), wariant: c.470T>C, p.(Ile157Thr); NG_008150.1:g.44869_50264del (del5395)
NBN: c.657_661delACAAA, p.(Lys219Asnfs*16)
CDKN2A: Sekwencja kodująca z uwzględnieniem alternatywnych transkryptów: LRG_11t1 (p16INK4a); LRG_11t2 (p14ARF)
HOXB13: c.251G>A, p.(Gly84Glu)
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