Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Ser163ValfsTer9 (p.S163Vfs*9)
(
ENST00000713678.1,
ENST00000713680.1,
ENST00000700202.2,
ENST00000530893.7,
ENST00000544455.6,
ENST00000380152.8 )
BRCA2 p.Val220IlefsTer4 (p.V220Ifs*4) ( ENST00000530893.7, ENST00000544455.6, ENST00000380152.8, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn243LysfsTer7 (p.N243Kfs*7) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asp252ValfsTer24 (p.D252Vfs*24) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn257LysfsTer17 (p.N257Kfs*17) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu260SerfsTer15 (p.E260Sfs*15) ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000530893.7, ENST00000544455.6, ENST00000380152.8 )
BRCA2 p.Cys419TrpfsTer11 (p.C419Wfs*11) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000713680.1, ENST00000713678.1, ENST00000700202.2 )
BRCA2 p.Val464GlyfsTer3 (p.V464Gfs*3) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn588SerfsTer25 (p.N588Sfs*25) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ile591MetfsTer22 (p.I591Mfs*22) ( ENST00000530893.7, ENST00000380152.8, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser599Ter (p.S599*) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Arg645GlufsTer15 (p.R645Efs*15) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Ala938ProfsTer21 (p.A938Pfs*21) ( ENST00000544455.6, ENST00000530893.7, ENST00000380152.8, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ala938ProfsTer21 (p.A938Pfs*21) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Asp946PhefsTer12 (p.D946Ffs*12) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Lys1057ThrfsTer8 (p.K1057Tfs*8) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Phe1182Ter (p.F1182*) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Cys1200Ter (p.C1200*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu1227GlnfsTer5 (p.L1227Qfs*5) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000713680.1, ENST00000713678.1, ENST00000700202.2 )
BRCA2 p.Lys1239AsnfsTer20 (p.K1239Nfs*20) ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Leu1260TyrfsTer16 (p.L1260Yfs*16) ( ENST00000530893.7, ENST00000380152.8, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Val1283LysfsTer2 (p.V1283Kfs*2) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu1353GlyfsTer6 (p.E1353Gfs*6) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu1466PhefsTer2 (p.L1466Ffs*2) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713680.1, ENST00000713678.1 )
BRCA2 p.Lys1472ThrfsTer6 (p.K1472Tfs*6) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000713678.1, ENST00000713680.1, ENST00000700202.2 )
BRCA2 p.Leu1491LysfsTer12 (p.L1491Kfs*12) ( ENST00000380152.8, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000530893.7 )
BRCA2 p.Leu1491GlnfsTer12 (p.L1491Qfs*12) ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Glu1493ValfsTer10 (p.E1493Vfs*10) ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000530893.7, ENST00000544455.6, ENST00000380152.8 )
BRCA2 p.Asn1544ThrfsTer24 (p.N1544Tfs*24) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Phe1546LeufsTer22 (p.F1546Lfs*22) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Asn1626SerfsTer12 (p.N1626Sfs*12) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn1784HisfsTer2 (p.N1784Hfs*2) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000713678.1, ENST00000713680.1, ENST00000700202.2 )
BRCA2 p.Lys1828ValfsTer4 (p.K1828Vfs*4) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ile1859LysfsTer3 (p.I1859Kfs*3) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Lys1872AsnfsTer2 (p.K1872Nfs*2) ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Ser1882LysfsTer26 (p.S1882Kfs*26) ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Leu1908ArgfsTer2 (p.L1908Rfs*2) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn1933LysfsTer29 (p.N1933Kfs*29) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713680.1, ENST00000713678.1 )
BRCA2 p.Ser1943LeufsTer20 (p.S1943Lfs*20) ( ENST00000530893.7, ENST00000544455.6, ENST00000380152.8, ENST00000713680.1, ENST00000713678.1, ENST00000700202.2 )
BRCA2 p.Ser1982ArgfsTer22 (p.S1982Rfs*22) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000530893.7, ENST00000544455.6, ENST00000380152.8 )
BRCA2 p.Leu2092ProfsTer7 (p.L2092Pfs*7) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000713678.1, ENST00000713680.1, ENST00000700202.2 )
BRCA2 p.Asn2135LysfsTer3 (p.N2135Kfs*3) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ile2149SerfsTer25 (p.I2149Sfs*25) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln2157IlefsTer18 (p.Q2157Ifs*18) ( ENST00000544455.6, ENST00000713680.1, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1 )
BRCA2 p.Glu2198AsnfsTer4 (p.E2198Nfs*4) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu2357ValfsTer2 (p.L2357Vfs*2) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713680.1, ENST00000713678.1 )
BRCA2 p.His2417GlnfsTer3 (p.H2417Qfs*3) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000530893.7, ENST00000380152.8, ENST00000544455.6 )
BRCA2 p.Ile2588TyrfsTer60 (p.I2588Yfs*60) ( ENST00000530893.7, ENST00000544455.6, ENST00000380152.8, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Thr2766AsnfsTer11 (p.T2766Nfs*11) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000713680.1, ENST00000713678.1, ENST00000700202.2 )
BRCA2 p.Glu2846GlyfsTer22 (p.E2846Gfs*22) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr3092CysfsTer11 (p.Y3092Cfs*11) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ala3270ProfsTer5 (p.A3270Pfs*5) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser163ValfsTer9 (p.S163Vfs*9) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Val220IlefsTer4 (p.V220Ifs*4) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn243LysfsTer7 (p.N243Kfs*7) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asp252ValfsTer24 (p.D252Vfs*24) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn257LysfsTer17 (p.N257Kfs*17) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu260SerfsTer15 (p.E260Sfs*15) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Cys419TrpfsTer11 (p.C419Wfs*11) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Val464GlyfsTer3 (p.V464Gfs*3) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn588SerfsTer25 (p.N588Sfs*25) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ile591MetfsTer22 (p.I591Mfs*22) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser599Ter (p.S599*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Arg645GlufsTer15 (p.R645Efs*15) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ala938ProfsTer21 (p.A938Pfs*21) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ala938ProfsTer21 (p.A938Pfs*21) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asp946PhefsTer12 (p.D946Ffs*12) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Lys1057ThrfsTer8 (p.K1057Tfs*8) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Phe1182Ter (p.F1182*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Cys1200Ter (p.C1200*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu1227GlnfsTer5 (p.L1227Qfs*5) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Lys1239AsnfsTer20 (p.K1239Nfs*20) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu1260TyrfsTer16 (p.L1260Yfs*16) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Val1283LysfsTer2 (p.V1283Kfs*2) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu1353GlyfsTer6 (p.E1353Gfs*6) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu1466PhefsTer2 (p.L1466Ffs*2) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Lys1472ThrfsTer6 (p.K1472Tfs*6) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu1491LysfsTer12 (p.L1491Kfs*12) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu1491GlnfsTer12 (p.L1491Qfs*12) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu1493ValfsTer10 (p.E1493Vfs*10) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn1544ThrfsTer24 (p.N1544Tfs*24) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Phe1546LeufsTer22 (p.F1546Lfs*22) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn1626SerfsTer12 (p.N1626Sfs*12) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000530893.7, ENST00000380152.8, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn1784HisfsTer2 (p.N1784Hfs*2) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Lys1828ValfsTer4 (p.K1828Vfs*4) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ile1859LysfsTer3 (p.I1859Kfs*3) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Lys1872AsnfsTer2 (p.K1872Nfs*2) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1882LysfsTer26 (p.S1882Kfs*26) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu1908ArgfsTer2 (p.L1908Rfs*2) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn1933LysfsTer29 (p.N1933Kfs*29) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1943LeufsTer20 (p.S1943Lfs*20) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1982ArgfsTer22 (p.S1982Rfs*22) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu2092ProfsTer7 (p.L2092Pfs*7) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn2135LysfsTer3 (p.N2135Kfs*3) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ile2149SerfsTer25 (p.I2149Sfs*25) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln2157IlefsTer18 (p.Q2157Ifs*18) ( ENST00000713680.1, ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1 )
BRCA2 p.Glu2198AsnfsTer4 (p.E2198Nfs*4) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu2357ValfsTer2 (p.L2357Vfs*2) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.His2417GlnfsTer3 (p.H2417Qfs*3) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ile2588TyrfsTer60 (p.I2588Yfs*60) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Thr2766AsnfsTer11 (p.T2766Nfs*11) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu2846GlyfsTer22 (p.E2846Gfs*22) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr3092CysfsTer11 (p.Y3092Cfs*11) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ala3270ProfsTer5 (p.A3270Pfs*5) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Phe1866LeufsTer8 (p.F1866Lfs*8) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Lys3084AsnfsTer26 (p.K3084Nfs*26) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Phe1866LeufsTer8 (p.F1866Lfs*8) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Lys3084AsnfsTer26 (p.K3084Nfs*26) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.67+2T>A ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 c.67+2T>C ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu49Ter (p.E49*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln84Ter (p.Q84*) ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 c.316+5G>A ( ENST00000530893.7, ENST00000380152.8, ENST00000544455.6, ENST00000700202.2, ENST00000713680.1, ENST00000713678.1 )
BRCA2 c.316+5G>C ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 c.475+1G>A ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.475+1G>T ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Trp194Ter (p.W194*) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.631+1G>A ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000530893.7, ENST00000380152.8, ENST00000544455.6 )
BRCA2 c.631+2T>C ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000530893.7, ENST00000380152.8, ENST00000544455.6 )
BRCA2 c.631+2T>G ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000713678.1, ENST00000713680.1, ENST00000700202.2 )
BRCA2 p.Gln258Ter (p.Q258*) ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Glu471Ter (p.E471*) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000713680.1, ENST00000713678.1, ENST00000700202.2 )
BRCA2 p.Gln619Ter (p.Q619*) ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Gln1037Ter (p.Q1037*) ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000530893.7, ENST00000380152.8, ENST00000544455.6 )
BRCA2 p.Gln1056Lys (p.Q1056K) ( ENST00000530893.7, ENST00000380152.8, ENST00000544455.6, ENST00000713680.1, ENST00000713678.1, ENST00000700202.2 )
BRCA2 p.Gln1056Ter (p.Q1056*) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Glu1308Ter (p.E1308*) ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000530893.7, ENST00000380152.8, ENST00000544455.6 )
BRCA2 p.Ser1630Ter (p.S1630*) ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Ser1630Ter (p.S1630*) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000713678.1, ENST00000713680.1, ENST00000700202.2 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000544455.6, ENST00000380152.8, ENST00000713678.1, ENST00000530893.7, ENST00000700202.2, ENST00000713680.1 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000530893.7, ENST00000544455.6, ENST00000380152.8, ENST00000713678.1, ENST00000713680.1, ENST00000700202.2 )
BRCA2 p.Ser1882Ter (p.S1882*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1882Ter (p.S1882*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Cys1885Ter (p.C1885*) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713680.1, ENST00000713678.1 )
BRCA2 p.Gln1886Ter (p.Q1886*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr1894Ter (p.Y1894*) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Tyr1894Ter (p.Y1894*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr1894= (p.Y1894=) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu1928Lys (p.E1928K) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000530893.7, ENST00000380152.8, ENST00000544455.6 )
BRCA2 p.Glu1928Ter (p.E1928*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu1953Ter (p.E1953*) ( ENST00000530893.7, ENST00000380152.8, ENST00000544455.6, ENST00000700202.2, ENST00000713680.1, ENST00000713678.1 )
BRCA2 p.Ser1955Ter (p.S1955*) ( ENST00000530893.7, ENST00000544455.6, ENST00000380152.8, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1955Ter (p.S1955*) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln2042Ter (p.Q2042*) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000713680.1, ENST00000713678.1, ENST00000700202.2 )
BRCA2 p.Arg2336His (p.R2336H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Arg2336Pro (p.R2336P) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Arg2336Leu (p.R2336L) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.7617+1G>A ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.7617+1G>T ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.7617+2T>G ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 c.7618-1G>A ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 c.7618-1G>C ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000530893.7, ENST00000544455.6, ENST00000380152.8 )
BRCA2 p.Trp2619Ter (p.W2619*) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Trp2619Ser (p.W2619S) ( ENST00000530893.7, ENST00000544455.6, ENST00000380152.8, ENST00000713680.1, ENST00000713678.1, ENST00000700202.2 )
BRCA2 p.Asn2622Ser (p.N2622S) ( ENST00000530893.7, ENST00000544455.6, ENST00000380152.8, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.His2623Arg (p.H2623R) ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000530893.7, ENST00000544455.6, ENST00000380152.8 )
BRCA2 p.Trp2626Ter (p.W2626*) ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 c.7977-1G>C ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000530893.7, ENST00000380152.8, ENST00000544455.6 )
BRCA2 c.7977-1G>T ( ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000380152.8, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ile2675Val (p.I2675V) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asp2723His (p.D2723H) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713680.1, ENST00000713678.1 )
BRCA2 p.Gly2793Arg (p.G2793R) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Ser2807Leu (p.S2807L) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln2859Ter (p.Q2859*) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Glu2924Ter (p.E2924*) ( ENST00000530893.7, ENST00000544455.6, ENST00000380152.8, ENST00000700202.2, ENST00000713680.1, ENST00000713678.1 )
BRCA2 p.Glu2947Ter (p.E2947*) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Glu3002Lys (p.E3002K) ( ENST00000713678.1, ENST00000713680.1, ENST00000380152.8, ENST00000544455.6, ENST00000700202.2, ENST00000530893.7 )
BRCA2 p.Pro3039= (p.P3039=) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Arg3052Trp (p.R3052W) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr3098Ter (p.Y3098*) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000530893.7, ENST00000380152.8, ENST00000544455.6 )
BRCA2 p.Tyr3098Ter (p.Y3098*) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000530893.7, ENST00000380152.8, ENST00000544455.6 )
BRCA2 p.Gln3126Ter (p.Q3126*) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713680.1, ENST00000713678.1 )
BRCA2 p.Arg3128Ter (p.R3128*) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.9501+3A>T ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Tyr3308Ter (p.Y3308*) ( ENST00000530893.7, ENST00000380152.8, ENST00000544455.6, ENST00000713680.1, ENST00000713678.1, ENST00000700202.2 )
BRCA2 p.Tyr3308= (p.Y3308=) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.67+2T>A ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.67+2T>C ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu49Ter (p.E49*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln84Ter (p.Q84*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.316+5G>A ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.316+5G>C ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.475+1G>A ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.475+1G>T ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Trp194Ter (p.W194*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.631+1G>A ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.631+2T>C ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.631+2T>G ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln258Ter (p.Q258*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu471Ter (p.E471*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln619Ter (p.Q619*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln1037Ter (p.Q1037*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln1056Lys (p.Q1056K) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln1056Ter (p.Q1056*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu1308Ter (p.E1308*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1630Ter (p.S1630*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1630Ter (p.S1630*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1882Ter (p.S1882*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1882Ter (p.S1882*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Cys1885Ter (p.C1885*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln1886Ter (p.Q1886*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr1894Ter (p.Y1894*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr1894Ter (p.Y1894*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr1894= (p.Y1894=) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu1928Lys (p.E1928K) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu1928Ter (p.E1928*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu1953Ter (p.E1953*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1955Ter (p.S1955*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1955Ter (p.S1955*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln2042Ter (p.Q2042*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Arg2336His (p.R2336H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Arg2336Pro (p.R2336P) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Arg2336Leu (p.R2336L) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.7617+1G>A ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.7617+1G>T ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.7617+2T>G ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.7618-1G>A ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.7618-1G>C ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Trp2619Ter (p.W2619*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Trp2619Ser (p.W2619S) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn2622Ser (p.N2622S) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.His2623Arg (p.H2623R) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Trp2626Ter (p.W2626*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.7977-1G>C ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.7977-1G>T ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ile2675Val (p.I2675V) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asp2723His (p.D2723H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gly2793Arg (p.G2793R) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser2807Leu (p.S2807L) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln2859Ter (p.Q2859*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu2924Ter (p.E2924*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu2947Ter (p.E2947*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu3002Lys (p.E3002K) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Pro3039= (p.P3039=) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Arg3052Trp (p.R3052W) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr3098Ter (p.Y3098*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr3098Ter (p.Y3098*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln3126Ter (p.Q3126*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Arg3128Ter (p.R3128*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.9501+3A>T ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr3308Ter (p.Y3308*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr3308= (p.Y3308=) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln397?fsTer25 (p.Q397?fs*25)
BRCA2 p.Gln397LeufsTer25 (p.Q397Lfs*25)
BRCA2 p.Ile605AsnfsTer11 (p.I605Nfs*11)
BRCA2 p.Asn986ArgfsTer2 (p.N986Rfs*2)
BRCA2 p.Asn986LysfsTer2 (p.N986Kfs*2)
BRCA2 p.Thr1116IlefsTer4 (p.T1116Ifs*4)
BRCA2 p.Asn1198LysfsTer2 (p.N1198Kfs*2)
BRCA2 p.Gln1429SerfsTer9 (p.Q1429Sfs*9)
BRCA2 p.Lys1530GlufsTer4 (p.K1530Efs*4)
BRCA2 p.Lys1530GlufsTer4 (p.K1530Efs*4)
BRCA2 p.Thr1566AspfsTer9 (p.T1566Dfs*9)
BRCA2 p.Ser1659CysfsTer7 (p.S1659Cfs*7)
BRCA2 p.Trp1692MetfsTer3 (p.W1692Mfs*3)
BRCA2 p.Ser1720PhefsTer7 (p.S1720Ffs*7)
BRCA2 p.Asn1784LysfsTer3 (p.N1784Kfs*3)
BRCA2 p.Asn2189LysfsTer8 (p.N2189Kfs*8)
BRCA2 p.Ser2691PhefsTer4 (p.S2691Ffs*4)
BRCA2 p.Thr3033AsnfsTer11 (p.T3033Nfs*11)
BRCA2 p.Thr3085AsnfsTer26 (p.T3085Nfs*26)
BRCA2 p.Tyr3225IlefsTer30 (p.Y3225Ifs*30)
BRCA2 p.Gln397?fsTer25 (p.Q397?fs*25)
BRCA2 p.Gln397LeufsTer25 (p.Q397Lfs*25)
BRCA2 p.Ile605AsnfsTer11 (p.I605Nfs*11)
BRCA2 p.Asn986ArgfsTer2 (p.N986Rfs*2)
BRCA2 p.Asn986LysfsTer2 (p.N986Kfs*2)
BRCA2 p.Thr1116IlefsTer4 (p.T1116Ifs*4)
BRCA2 p.Asn1198LysfsTer2 (p.N1198Kfs*2)
BRCA2 p.Gln1429SerfsTer9 (p.Q1429Sfs*9)
BRCA2 p.Lys1530GlufsTer4 (p.K1530Efs*4)
BRCA2 p.Lys1530GlufsTer4 (p.K1530Efs*4)
BRCA2 p.Thr1566AspfsTer9 (p.T1566Dfs*9)
BRCA2 p.Ser1659CysfsTer7 (p.S1659Cfs*7)
BRCA2 p.Trp1692MetfsTer3 (p.W1692Mfs*3)
BRCA2 p.Ser1720PhefsTer7 (p.S1720Ffs*7)
BRCA2 p.Asn1784LysfsTer3 (p.N1784Kfs*3)
BRCA2 p.Asn2189LysfsTer8 (p.N2189Kfs*8)
BRCA2 p.Ser2691PhefsTer4 (p.S2691Ffs*4)
BRCA2 p.Thr3033AsnfsTer11 (p.T3033Nfs*11)
BRCA2 p.Thr3085AsnfsTer26 (p.T3085Nfs*26)
BRCA2 p.Tyr3225IlefsTer30 (p.Y3225Ifs*30) - Associated Disease
- Hereditary Breast and Ovarian Cancer Syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.391215815289235
- Year of publication
- NA
Drugs