Gene RefSeq mRNA ID No. of Occurrences No. of Individuals with Associated Tumor Variant Description Consequence
ATM GenBank: NM_000051 1 1 c.193C>T (p.Gln65∗) stop gain
ATM GenBank: NM_000051 1 1 c.5623C>T (p.Arg1875∗) stop gain
ATM GenBank: NM_000051 1 0 c.6583+1G>A splice site (donor)
ATM GenBank: NM_000051 1 0 c.6866-6867insT (p.Ser2289Serfs) frameshift
ATM GenBank: NM_000051 1 1 c.748C>T (p.Arg250∗) stop gain
ATM GenBank: NM_000051 1 1 c.8147T>C (p.Val2716Ala) missense
ATM GenBank: NM_000051 1 0 c.8405delA (p.Gln2802fs) frameshift
ATM GenBank: NM_000051 1 0 c.5821G>C (p.Val1941Leu) missense
ATM GenBank: NM_000051 1 0 c.8122G>A (p.Asp2708Asn) missense
ATM GenBank: NM_000051 1 1 c.7775C>G (p.Ser2592Cys) missense
BMPR1Aa GenBank: NM_004329 1 1 c.730C>T (p.Arg244∗) stop gain
BRCA1 GenBank: NM_007300 1 1 c.1961−1962insA (p.Lys654fs) frameshift
BRCA2 GenBank: NM_000059 1 0 c.4525C>T (p.Gln1509∗) stop gain
BRCA2 GenBank: NM_000059 1 1 c.5682C>G (p.Tyr1894∗) stop gain
BRCA2 GenBank: NM_000059 1 0 c.6275−6276delTT (p.Leu2092fs) frameshift
BRCA2 GenBank: NM_000059 1 1 c.6402−6406delTAACT (p.Asn2135Leufs) frameshift
BRCA2 GenBank: NM_000059 1 0 c.6535−6536insA (p.Val2179fs) frameshift
BRCA2 GenBank: NM_000059 1 1 c.1805−1806insA (p.Gly602fs) frameshift
CDKN1B GenBank: NM_004064 1 0 c.148−149delAG (p.Arg50fs) frameshift
CHEK2 GenBank: NM_001005735 3 1 c.1392delT (p.Leu464fs) frameshift
CHEK2 GenBank: NM_001005735 10 6 c.1229delC (p.Thr410fs) frameshift
CHEK2 GenBank: NM_001005735 1 1 c.1051+1C>T splice site (donor)
CHEK2 GenBank: NM_001005735 1 0 c.784delG (p.Glu262fs) frameshift
CHEK2 GenBank: NM_001005735 1 1 c.562C>T (p.Arg188Trp) missense
EXT2 GenBank: NM_000401 1 0 c.613C>T (p.Gln205∗) stop gain
FH GenBank: NM_000143 3 0 c.1433−1434insAAA (p.Lys477_Asn478insLys) in-frame insertion
FH GenBank: NM_000143 1 1 c.320A>C (p.Asn107Thr) missense
FHb GenBank: NM_000143 1 0 c.521C>G (p.Pro174Arg) missense
MAX GenBank: NM_002382 1 1 c.289C>T (p.Gln97∗) stop gain
MAXb GenBank: NM_002382 1 1 c.1A>G (p.Met1Val) start loss
MLH1 GenBank: NM_000249, NM_001258273 1 1 c.1884−1G>A splice site (acceptor)
MSH2 GenBank: NM_000251 1 0 c.1452−1455insAATG (p.Leu484-Met485fs) frameshift
NF1 GenBank: NM_001042492 1 1 c.1541−1542delAG (p.Gln514fs) frameshift
NF1 GenBank: NM_001042492 1 1 c.4620delA (p.Ala1540fs) frameshift
NF1 GenBank: NM_001042492 1 1 c.5831delT (p.Leu1944fs) frameshift
NF1 GenBank: NM_001042492 1 1 c.7768-7769insA (p.His2590fs) frameshift
NTHL1c GenBank: NM_002528 3 3 c.268C>T (p.Gln90∗) stop gain
PALB2 GenBank: NM_024675 4 3 c.3113G>A (p.Trp1038∗) stop gain
PALB2 GenBank: NM_024675 1 1 c.3116delA (p.Asn1039fs) frameshift
PALB2 GenBank: NM_024675 1 1 c.62T>G (p.Leu21∗) stop gain
PMS2a GenBank: NM_000535 1 1 c.741−742insTGAAG (p.Pro247_S248fs) frameshift
PTEN GenBank: NM_000314 1 1 c.1003C>T (p.Arg335∗) stop gain
PTEN GenBank: NM_000314 1 1 c.697C>T (p.Arg233∗) stop gain
SDHB GenBank: NM_003000 1 1 c.223+1C>A splice site (donor)
SDHB GenBank: NM_003000 1 1 c.689G>A (p.Arg230His) missense