13-32968951-C-T |
BRCA2 |
c.9382C>T |
p.Arg3128* |
Nonsense |
25/27 |
- |
17-41197610-T-C |
BRCA1 |
c.*85A>G |
- |
3-UTRSNV |
23/23 |
- |
13-32913731-A-AT |
BRCA2 |
c.5239_5240insT |
p.Asn1747Ilefs*8 |
Frameshift |
11/27 |
- |
13-32930634-G-A |
BRCA2 |
c.7505G>A |
p.Arg2502His |
Missense |
15/27 |
- |
13-32913837-A-C |
BRCA2 |
c.5345A>C |
p.Gln1782Pro |
Missense |
11/27 |
- |
13-32912849-A-AT |
BRCA2 |
c.4357_4358insT |
p.Lys1453Ilefs*7 |
Frameshift |
11/27 |
- |
13-32937597-T-C |
BRCA2 |
c.8258T>C |
p.Leu2753Pro |
Missense |
18/27 |
- |
17-41246702-ATGAG-A |
BRCA1 |
c.843_846delCTCA |
p.Ser282Tyrfs*15 |
Frameshift |
10/23 |
- |
13-32910506-A-G |
BRCA2 |
c.2014A>G |
p.Arg672Gly |
Missense |
11/27 |
- |
17-41256182-C-T |
BRCA1 |
c.398G>A |
p.Arg133His |
Missense |
6/23 |
- |
13-32944659-G-A |
BRCA2 |
c.8452G>A |
p.Val2818Ile |
Missense |
19/27 |
- |
13-32972478-A-T |
BRCA2 |
c.9828A>T |
p.Arg3276Ser |
Missense |
27/27 |
- |
13-32911313-G-A |
BRCA2 |
c.2821G>A |
p.Val941Met |
Missense |
11/27 |
- |
13-32906415-G-A |
BRCA2 |
c.800G>A |
p.Gly267Glu |
Missense |
10/27 |
- |
13-32913428-AGAAA-A |
BRCA2 |
c.4936_4939delGAAA |
p.Glu1646Glnfs*23 |
Frameshift |
11/27 |
- |
13-32971023-T-G |
BRCA2 |
c.9502-12T>G |
- |
IntronicSNV |
- |
25/26 |
17-41203094-G-GG |
BRCA1 |
c.5319dupC |
p.Asn1774Glnfs*56 |
Frameshift |
20/23 |
- |
17-41244321-TCT-T |
BRCA1 |
c.3228_3229delAG |
p.Gly1077Alafs*8 |
Frameshift |
10/23 |
- |
17-41246793-C-T |
BRCA1 |
c.755G>A |
p.Arg252His |
Missense |
10/23 |
- |
17-41219639-AACA-A |
BRCA1 |
c.5062_5064delGTT |
p.Val1688delVal |
InFrameDeletion |
16/23 |
- |
13-32900718-C-T |
BRCA2 |
c.599C>T |
p.Thr200Ile |
Missense |
7/27 |
- |
13-32912215-T-G |
BRCA2 |
c.3723T>G |
p.Phe1241Leu |
Missense |
11/27 |
- |
13-32914359-A-T |
BRCA2 |
c.5867A>T |
p.Asp1956Val |
Missense |
11/27 |
- |
17-41244506-C-CC |
BRCA1 |
c.3044_3044dup |
p.Asn1016Lysfs*2 |
Frameshift |
10/23 |
- |
17-41215920-G-T |
BRCA1 |
c.5123C>A |
p.Ala1708Glu |
Missense |
17/23 |
- |
13-32890659-A-G |
BRCA2 |
c.62A>G |
p.Lys21Arg |
Missense |
2/27 |
- |
17-41242963-G-A |
BRCA1 |
c.4183C>T |
p.Gln1395* |
Nonsense |
11/23 |
- |
13-32911935-A-G |
BRCA2 |
c.3443A>G |
p.Gln1148Arg |
Missense |
11/27 |
- |
13-32913683-C-T |
BRCA2 |
c.5191C>T |
p.His1731Tyr |
Missense |
11/27 |
- |
13-32914960-CTC-C |
BRCA2 |
c.6468_6469delTC |
p.Gln2157Ilefs*18 |
Frameshift |
11/27 |
- |
17-41228504-C-A |
BRCA1 |
c.4484+1G>T |
- |
IntronicSNV |
- |
13/22 |
17-41243794-AGACA-A |
BRCA1 |
c.3756_3759delGTCT |
p.Ser1253Argfs*10 |
Frameshift |
10/23 |
- |
17-41245030-T-A |
BRCA1 |
c.2518A>T |
p.Ser840Cys |
Missense |
10/23 |
- |
13-32913984-T-C |
BRCA2 |
c.5492T>C |
p.Ile1831Thr |
Missense |
11/27 |
- |
13-32953971-C-T |
BRCA2 |
c.9038C>T |
p.Thr3013Ile |
Missense |
23/27 |
- |
13-32937348-C-T |
BRCA2 |
c.8009C>T |
p.Ser2670Leu |
Missense |
18/27 |
- |
13-32912623-C-CTGAGGA |
BRCA2 |
c.4131_4132insTGAGGA |
p.Thr1378*fs*1 |
Nonsense |
11/27 |
- |
17-41215948-G-A |
BRCA1 |
c.5095C>T |
p.Arg1699Trp |
Missense |
17/23 |
- |
13-32913650-T-TT |
BRCA2 |
c.5158_5158dup |
p.Ser1720Phefs*7 |
Frameshift |
11/27 |
- |
13-32907285-T-G |
BRCA2 |
c.1670T>G |
p.Leu557* |
Nonsense |
10/27 |
- |
13-32968840-G-A |
BRCA2 |
c.9271G>A |
p.Val3091Ile |
Missense |
25/27 |
- |
17-41243849-CTTTAC-C |
BRCA1 |
c.3700_3704delGTAAA |
p.Val1234Glnfs*8 |
Frameshift |
10/23 |
- |
13-32929047-G-C |
BRCA2 |
c.7057G>C |
p.Gly2353Arg |
Missense |
14/27 |
- |
17-41243029-C-A |
BRCA1 |
c.4117G>T |
p.Glu1373* |
Nonsense |
11/23 |
- |
13-32913842-AAA-A |
BRCA2 |
c.5350_5351delAA |
p.Asn1784Hisfs*2 |
Frameshift |
11/27 |
- |
17-41258504-A-C |
BRCA1 |
c.181T>G |
p.Cys61Gly |
Missense |
4/23 |
- |
13-32913843-A-AA |
BRCA2 |
c.5351dupA |
p.Asn1784Lysfs*3 |
Frameshift |
11/27 |
- |
13-32907056-A-G |
BRCA2 |
c.1441A>G |
p.Ile481Val |
Missense |
10/27 |
- |
13-32900750-G-A |
BRCA2 |
c.631G>A |
p.Val211Ile |
Missense |
7/27 |
- |
13-32913295-T-TT |
BRCA2 |
c.4803_4803dupT |
p.Lys1602*fs*1 |
Nonsense |
11/27 |
- |
6-54025553-C-T |
MLIP |
c.850C>T |
p.Pro284Ser |
Missense |
7/13 |
- |
13-32954197-C-G |
BRCA2 |
c.9171C>G |
p.Phe3057Leu |
Missense |
24/27 |
- |
13-32913374-A-G |
BRCA2 |
c.4882A>G |
p.Lys1628Glu |
Missense |
11/27 |
- |
13-32914343-TAGTT-T |
BRCA2 |
c.5851_5854delAGTT |
p.Ser1951Trpfs*11 |
Frameshift |
11/27 |
- |
17-41244217-TGCTT-T |
BRCA1 |
c.3331_3334delCAAG |
p.Gln1111Asnfs*5 |
Frameshift |
10/23 |
- |
13-32907129-T-C |
BRCA2 |
c.1514T>C |
p.Ile505Thr |
Missense |
10/27 |
- |
13-32914814-C-T |
BRCA2 |
c.6322C>T |
p.Arg2108Cys |
Missense |
11/27 |
- |
13-32911991-A-G |
BRCA2 |
c.3499A>G |
p.Ile1167Val |
Missense |
11/27 |
- |
13-32913721-GTAG-G |
BRCA2 |
c.5229_5231delTAG |
p.Ser1744delSer |
InFrameDeletion |
11/27 |
- |
13-32913694-A-C |
BRCA2 |
c.5202A>C |
p.Glu1734Asp |
Missense |
11/27 |
- |
17-41276049-A-G |
BRCA1 |
c.65T>C |
p.Leu22Ser |
Missense |
2/23 |
- |
13-32928996-A-T |
BRCA2 |
c.7008-2A>T |
- |
IntronicSNV |
- |
13/26 |
13-32928936-A-G |
BRCA2 |
c.7008-62A>G |
- |
IntronicSNV |
- |
13/26 |
13-32953577-C-T |
BRCA2 |
c.8878C>T |
p.Gln2960* |
Nonsense |
22/27 |
- |
17-41243494-C-T |
BRCA1 |
c.4054G>A |
p.Glu1352Lys |
Missense |
10/23 |
- |
13-32906480-A-G |
BRCA2 |
c.865A>G |
p.Asn289Asp |
Missense |
10/27 |
- |
13-32912625-ACTCA-A |
BRCA2 |
c.4133_4136delCTCA |
p.Thr1378Argfs*9 |
Frameshift |
11/27 |
- |
17-41243014-C-T |
BRCA1 |
c.4132G>A |
p.Val1378Ile |
Missense |
11/23 |
- |
17-41199693-G-C |
BRCA1 |
c.5434C>G |
p.Pro1812Ala |
Missense |
22/23 |
- |
13-32912043-G-C |
BRCA2 |
c.3551G>C |
p.Gly1184Ala |
Missense |
11/27 |
- |
13-32912465-TA-T |
BRCA2 |
c.3973delA |
p.Thr1325Leufs*10 |
Frameshift |
11/27 |
- |
17-41276033-C-T |
BRCA1 |
c.80+1G>A |
- |
IntronicSNV |
- |
2/22 |
17-41245653-C-T |
BRCA1 |
c.1895G>A |
p.Ser632Asn |
Missense |
10/23 |
- |
13-32972674-G-A |
BRCA2 |
c.10024G>A |
p.Glu3342Lys |
Missense |
27/27 |
- |
13-32937584-C-T |
BRCA2 |
c.8245C>T |
p.Gln2749* |
Nonsense |
18/27 |
- |
17-41256134-T-C |
BRCA1 |
c.441+5A>G |
- |
IntronicSNV |
- |
6/22 |
17-41203104-C-A |
BRCA1 |
c.5308G>T |
p.Gly1770Trp |
Missense |
20/23 |
- |
13-32912033-C-T |
BRCA2 |
c.3541C>T |
p.Gln1181* |
Nonsense |
11/27 |
- |
13-32913825-A-G |
BRCA2 |
c.5333A>G |
p.Asn1778Ser |
Missense |
11/27 |
- |
13-32953614-T-G |
BRCA2 |
c.8915T>G |
p.Leu2972Trp |
Missense |
22/27 |
- |
13-32921033-G-C |
BRCA2 |
c.7007G>C |
p.Arg2336Pro |
Missense |
13/27 |
- |
13-32921033-G-A |
BRCA2 |
c.7007G>A |
p.Arg2336His |
Missense |
13/27 |
- |
13-32915082-C-CA |
BRCA2 |
c.6590_6591insA |
p.Glu2198*fs*1 |
Nonsense |
11/27 |
- |
17-41267797-C-G |
BRCA1 |
c.81-1G>C |
- |
IntronicSNV |
- |
2/22 |
17-41201211-T-C |
BRCA1 |
c.5333A>G |
p.Asp1778Gly |
Missense |
21/23 |
- |
17-41246602-T-C |
BRCA1 |
c.946A>G |
p.Ser316Gly |
Missense |
10/23 |
- |
17-41228628-A-G |
BRCA1 |
c.4361T>C |
p.Val1454Ala |
Missense |
13/23 |
- |
17-41243620-T-TT |
BRCA1 |
c.3928_3928dup |
p.Thr1310Asnfs*20 |
Frameshift |
10/23 |
- |
13-32971146-GC-CT |
BRCA2 |
c.9613_9614delGCinsCT |
p.Ala3205Leu |
Missense |
26/27 |
- |
13-32906874-A-G |
BRCA2 |
c.1259A>G |
p.Asp420Gly |
Missense |
10/27 |
- |
13-32971116-A-G |
BRCA2 |
c.9583A>G |
p.Thr3195Ala |
Missense |
26/27 |
- |
13-32907318-C-T |
BRCA2 |
c.1703C>T |
p.Thr568Ile |
Missense |
10/27 |
- |
17-41246035-T-A |
BRCA1 |
c.1513A>T |
p.Lys505* |
Nonsense |
10/23 |
- |
17-41246731-GCTCCACATG-GCTCCACATGGCTCCACATG |
BRCA1 |
c.815_824dup |
p.Thr276Alafs*14 |
Frameshift |
10/23 |
- |
13-32913717-AACAGTA-A |
BRCA2 |
c.5225_5230delACAGTA |
p.Asn1742_ser1743del |
InFrameDeletion |
11/27 |
- |
17-41234565-T-C |
BRCA1 |
c.4213A>G |
p.Ile1405Val |
Missense |
12/23 |
- |
17-41246698-G-A |
BRCA1 |
c.850C>T |
p.Gln284* |
Nonsense |
10/23 |
- |
17-41246485-T-G |
BRCA1 |
c.1063A>C |
p.Lys355Gln |
Missense |
10/23 |
- |
13-32969073-A-T |
BRCA2 |
c.9501+3A>T |
- |
IntronicSNV |
- |
25/26 |
17-41246750-AAA-A |
BRCA1 |
c.798_799delTT |
p.Ser267Lysfs*19 |
Frameshift |
10/23 |
- |
13-32893225-A-G |
BRCA2 |
c.79A>G |
p.Ile27Val |
Missense |
3/27 |
- |
13-32945172-A-C |
BRCA2 |
c.8567A>C |
p.Glu2856Ala |
Missense |
20/27 |
- |
13-32914988-G-T |
BRCA2 |
c.6496G>T |
p.Val2166Leu |
Missense |
11/27 |
- |
17-41246551-T-C |
BRCA1 |
c.997A>G |
p.Thr333Ala |
Missense |
10/23 |
- |
13-32910986-G-T |
BRCA2 |
c.2494G>T |
p.Glu832* |
Nonsense |
11/27 |
- |
13-32893337-C-T |
BRCA2 |
c.191C>T |
p.Thr64Ile |
Missense |
3/27 |
- |
13-32900632-C-G |
BRCA2 |
c.517-4C>G |
- |
IntronicSNV |
- |
6/26 |
13-32930755-TTTGT-T |
BRCA2 |
c.7617+9_7617+12delTTGT |
- |
IntronicDeletion |
- |
15/26 |
17-41244206-CTTC-C |
BRCA1 |
c.3344_3346delAAG |
p.Glu1115delGlu |
InFrameDeletion |
10/23 |
- |
13-32912817-C-A |
BRCA2 |
c.4325C>A |
p.Ser1442* |
Nonsense |
11/27 |
- |
13-32944695-G-A |
BRCA2 |
c.8487+1G>A |
- |
IntronicSNV |
- |
19/26 |
13-32913915-T-C |
BRCA2 |
c.5423T>C |
p.Ile1808Thr |
Missense |
11/27 |
- |
17-41245255-TCT-T |
BRCA1 |
c.2296_2297delAG |
p.Ser766*fs*1 |
Frameshift |
10/23 |
- |
13-32913753-A-G |
BRCA2 |
c.5261A>G |
p.Asp1754Gly |
Missense |
11/27 |
- |
17-41251814-C-T |
BRCA1 |
c.525G>A |
p.Lys175Lys |
Synonymous |
7/23 |
- |
13-32914389-A-G |
BRCA2 |
c.5897A>G |
p.His1966Arg |
Missense |
11/27 |
- |
13-32954150-G-A |
BRCA2 |
c.9124G>A |
p.Asp3042Asn |
Missense |
24/27 |
- |
13-32954049-C-T |
BRCA2 |
c.9116C>T |
p.Pro3039Leu |
Missense |
23/27 |
- |
13-32893245-A-G |
BRCA2 |
c.99A>G |
p.Glu33Glu |
Synonymous |
3/27 |
- |
17-41209107-G-A |
BRCA1 |
c.5239C>T |
p.Gln1747* |
Nonsense |
19/23 |
- |
13-32914570-CAA-C |
BRCA2 |
c.6078_6079delAA |
p.Glu2028Argfs*20 |
Frameshift |
11/27 |
- |
17-41243482-TGATT-T |
BRCA1 |
c.4065_4068delTCAA |
p.Asn1355Lysfs*10 |
Frameshift |
10/23 |
- |
13-32913843-AA-A |
BRCA2 |
c.5351delA |
p.Asn1784Thrfs*7 |
Frameshift |
11/27 |
- |
13-32914782-C-T |
BRCA2 |
c.6290C>T |
p.Thr2097Met |
Missense |
11/27 |
- |
13-32913618-A-C |
BRCA2 |
c.5126A>C |
p.Asp1709Ala |
Missense |
11/27 |
- |
13-32968933-G-A |
BRCA2 |
c.9364G>A |
p.Ala3122Thr |
Missense |
25/27 |
- |
13-32911397-C-T |
BRCA2 |
c.2905C>T |
p.Gln969* |
Nonsense |
11/27 |
- |
13-32900420-G-C |
BRCA2 |
c.516+1G>C |
- |
IntronicSNV |
- |
6/26 |
17-41246086-T-TT |
BRCA1 |
c.1462_1462dupA |
p.Thr488Asnfs*2 |
Frameshift |
10/23 |
- |
13-32914126-C-G |
BRCA2 |
c.5634C>G |
p.Asn1878Lys |
Missense |
11/27 |
- |
13-32890665-G-A |
BRCA2 |
c.67+1G>A |
- |
IntronicSNV |
- |
2/26 |
17-41219669-AGTTA-A |
BRCA1 |
c.5030_5033delCTAA |
p.Thr1677Ilefs*2 |
Frameshift |
16/23 |
- |
17-41246566-CAT-C |
BRCA1 |
c.981_982delAT |
p.Cys328*fs*1 |
Frameshift |
10/23 |
- |
17-41251790-A-T |
BRCA1 |
c.547+2T>A |
- |
IntronicSNV |
- |
7/22 |
13-32914377-T-C |
BRCA2 |
c.5885T>C |
p.Ile1962Thr |
Missense |
11/27 |
- |
13-32914463-G-A |
BRCA2 |
c.5971G>A |
p.Ala1991Thr |
Missense |
11/27 |
- |
17-41201191-G-A |
BRCA1 |
c.5353C>T |
p.Gln1785* |
Nonsense |
21/23 |
- |
13-32914590-T-C |
BRCA2 |
c.6098T>C |
p.Ile2033Thr |
Missense |
11/27 |
- |
13-32907407-A-G |
BRCA2 |
c.1792A>G |
p.Thr598Ala |
Missense |
10/27 |
- |
13-32954037-A-C |
BRCA2 |
c.9104A>C |
p.Tyr3035Ser |
Missense |
23/27 |
- |
13-32893435-G-T |
BRCA2 |
c.289G>T |
p.Glu97* |
Nonsense |
3/27 |
- |
13-32954180-C-T |
BRCA2 |
c.9154C>T |
p.Arg3052Trp |
Missense |
24/27 |
- |
17-41244094-C-T |
BRCA1 |
c.3454G>A |
p.Asp1152Asn |
Missense |
10/23 |
- |
13-32945242-A-G |
BRCA2 |
c.8632+5A>G |
- |
IntronicSNV |
- |
20/26 |
13-32907435-A-C |
BRCA2 |
c.1820A>C |
p.Lys607Thr |
Missense |
10/27 |
- |
17-41223049-T-C |
BRCA1 |
c.4882A>G |
p.Met1628Val |
Missense |
15/23 |
- |
13-32968844-A-G |
BRCA2 |
c.9275A>G |
p.Tyr3092Cys |
Missense |
25/27 |
- |
13-32912454-A-G |
BRCA2 |
c.3962A>G |
p.Asp1321Gly |
Missense |
11/27 |
- |
13-32906446-T-G |
BRCA2 |
c.831T>G |
p.Asn277Lys |
Missense |
10/27 |
- |
17-41245936-G-A |
BRCA1 |
c.1612C>T |
p.Gln538* |
Nonsense |
10/23 |
- |
17-41219626-T-G |
BRCA1 |
c.5073A>C |
p.Thr1691Thr |
Synonymous |
16/23 |
- |
17-41219619-G-C |
BRCA1 |
c.5074+6C>G |
- |
IntronicSNV |
- |
16/22 |
17-41245018-CTT-C |
BRCA1 |
c.2529_2530delAA |
p.Ser844Hisfs*7 |
Frameshift |
10/23 |
- |
17-41245047-C-T |
BRCA1 |
c.2501G>A |
p.Gly834Glu |
Missense |
10/23 |
- |
17-41197783-C-G |
BRCA1 |
c.5504G>C |
p.Arg1835Pro |
Missense |
23/23 |
- |
13-32914531-AA-A |
BRCA2 |
c.6039delA |
p.Val2014Tyrfs*26 |
Frameshift |
11/27 |
- |
13-32900276-G-C |
BRCA2 |
c.464G>C |
p.Arg155Thr |
Missense |
5/27 |
- |
13-32903578-A-G |
BRCA2 |
c.632-2A>G |
- |
IntronicSNV |
- |
7/26 |
13-32910541-CTC-C |
BRCA2 |
c.2049_2050delTC |
p.Gln684Glyfs*3 |
Frameshift |
11/27 |
- |
13-32937588-AAGA-A |
BRCA2 |
c.8249_8251delAGA |
p.Lys2750delLys |
InFrameDeletion |
18/27 |
- |
13-32918728-A-G |
BRCA2 |
c.6875A>G |
p.Glu2292Gly |
Missense |
12/27 |
- |
17-41242984-G-A |
BRCA1 |
c.4162C>T |
p.Gln1388* |
Nonsense |
11/23 |
- |
13-32971114-C-A |
BRCA2 |
c.9581C>A |
p.Pro3194Gln |
Missense |
26/27 |
- |
17-41244843-T-C |
BRCA1 |
c.2705A>G |
p.Glu902Gly |
Missense |
10/23 |
- |
17-41246467-A-G |
BRCA1 |
c.1081T>C |
p.Ser361Pro |
Missense |
10/23 |
- |
13-32913391-TCTTT-T |
BRCA2 |
c.4899_4902delCTTT |
p.Phe1634*fs*1 |
Frameshift |
11/27 |
- |
13-32914478-G-A |
BRCA2 |
c.5986G>A |
p.Ala1996Thr |
Missense |
11/27 |
- |
13-32968982-T-TT |
BRCA2 |
c.9413dupT |
p.Leu3138Phefs*12 |
Frameshift |
25/27 |
- |
6-54066981-A-C |
MLIP |
c.1063A>C |
p.Asn355His |
Missense |
10/13 |
- |
13-32914451-C-T |
BRCA2 |
c.5959C>T |
p.Gln1987* |
Nonsense |
11/27 |
- |
17-41245845-G-A |
BRCA1 |
c.1703C>T |
p.Pro568Leu |
Missense |
10/23 |
- |
17-41246191-TCT-T |
BRCA1 |
c.1360_1361delAG |
p.Ser454*fs*1 |
Frameshift |
10/23 |
- |
17-41219626-T-C |
BRCA1 |
c.5073A>G |
p.Thr1691Thr |
Synonymous |
16/23 |
- |
13-32906911-AGA-A |
BRCA2 |
c.1296_1297delGA |
p.Asn433Glnfs*18 |
Frameshift |
10/27 |
- |
13-32915334-G-T |
BRCA2 |
c.6841+1G>T |
- |
IntronicSNV |
- |
11/26 |
6-54066934-T-TC |
MLIP |
c.1016_1017insC |
p.Ser341Ilefs*13 |
Frameshift |
10/13 |
- |
13-32914623-G-C |
BRCA2 |
c.6131G>C |
p.Gly2044Ala |
Missense |
11/27 |
- |
13-32937333-A-G |
BRCA2 |
c.7994A>G |
p.Asp2665Gly |
Missense |
18/27 |
- |
13-32915142-A-G |
BRCA2 |
c.6650A>G |
p.Lys2217Arg |
Missense |
11/27 |
- |
13-32913598-CA-C |
BRCA2 |
c.5106delA |
p.Glu1703Lysfs*3 |
Frameshift |
11/27 |
- |
17-41246296-C-A |
BRCA1 |
c.1252G>T |
p.Glu418* |
Nonsense |
10/23 |
- |
13-32954174-C-T |
BRCA2 |
c.9148C>T |
p.Gln3050* |
Nonsense |
24/27 |
- |
13-32972609-CCTC-C |
BRCA2 |
c.9959_9961delCTC |
p.Pro3320delPro |
InFrameDeletion |
27/27 |
- |
17-41258542-A-T |
BRCA1 |
c.143T>A |
p.Met48Lys |
Missense |
4/23 |
- |
17-41244466-G-A |
BRCA1 |
c.3082C>T |
p.Arg1028Cys |
Missense |
10/23 |
- |
17-41223192-G-A |
BRCA1 |
c.4739C>T |
p.Ser1580Phe |
Missense |
15/23 |
- |
17-41219626-T-A |
BRCA1 |
c.5073A>T |
p.Thr1691Thr |
Synonymous |
16/23 |
- |
13-32914214-TCT-T |
BRCA2 |
c.5722_5723delCT |
p.Leu1908Argfs*2 |
Frameshift |
11/27 |
- |
13-32913565-A-T |
BRCA2 |
c.5073A>T |
p.Lys1691Asn |
Missense |
11/27 |
- |
13-32950932-A-G |
BRCA2 |
c.8754+4A>G |
- |
IntronicSNV |
- |
21/26 |
17-41199696-G-A |
BRCA1 |
c.5431C>T |
p.Gln1811* |
Nonsense |
22/23 |
- |
13-32899323-T-C |
BRCA2 |
c.425+2T>C |
- |
IntronicSNV |
- |
4/26 |
17-41226345-T-C |
BRCA1 |
c.4675+3A>G |
- |
IntronicSNV |
- |
14/22 |
17-41244034-C-A |
BRCA1 |
c.3514G>T |
p.Glu1172* |
Nonsense |
10/23 |
- |
13-32907077-A-AA |
BRCA2 |
c.1462_1462dupA |
p.Ile488Asnfs*26 |
Frameshift |
10/27 |
- |
13-32972690-T-C |
BRCA2 |
c.10040T>C |
p.Ile3347Thr |
Missense |
27/27 |
- |
13-32899249-G-A |
BRCA2 |
c.353G>A |
p.Arg118His |
Missense |
4/27 |
- |
13-32907411-TCTTAT-T |
BRCA2 |
c.1796_1800delCTTAT |
p.Ser599*fs*1 |
Frameshift |
10/27 |
- |
6-54122130-C-T |
MLIP |
c.1342C>T |
p.Pro448Ser |
Missense |
12/13 |
- |
17-41267741-A-G |
BRCA1 |
c.134+2T>C |
- |
IntronicSNV |
- |
3/22 |
13-32914939-TA-TATA |
BRCA2 |
c.6447_6448dup |
p.Lys2150Ilefs*19 |
Frameshift |
11/27 |
- |
13-32910539-CTCTC-C |
BRCA2 |
c.2047_2050delTCTC |
p.Ser683Argfs*46 |
Frameshift |
11/27 |
- |
17-41245861-G-A |
BRCA1 |
c.1687C>T |
p.Gln563* |
Nonsense |
10/23 |
- |
13-32937638-C-T |
BRCA2 |
c.8299C>T |
p.Pro2767Ser |
Missense |
18/27 |
- |
13-32906862-T-G |
BRCA2 |
c.1247T>G |
p.Ile416Ser |
Missense |
10/27 |
- |
13-32936711-G-A |
BRCA2 |
c.7857G>A |
p.Trp2619* |
Nonsense |
17/27 |
- |
13-32929435-G-A |
BRCA2 |
c.7435+10G>A |
- |
IntronicSNV |
- |
14/26 |
17-41222949-TTCTTCTGGGGTCAGGCCAG-T |
BRCA1 |
c.4964_4982del19 |
p.Ser1655Tyrfs*16 |
Frameshift |
15/23 |
- |
17-41246052-G-T |
BRCA1 |
c.1496C>A |
p.Thr499Lys |
Missense |
10/23 |
- |
13-32936658-A-G |
BRCA2 |
c.7806-2A>G |
- |
IntronicSNV |
- |
16/26 |
13-32912826-A-C |
BRCA2 |
c.4334A>C |
p.Lys1445Thr |
Missense |
11/27 |
- |
13-32912777-C-CT |
BRCA2 |
c.4285_4286insT |
p.Gln1429Leufs*9 |
Frameshift |
11/27 |
- |
13-32914516-G-GG |
BRCA2 |
c.6024_6024dupG |
p.Gln2009Alafs*9 |
Frameshift |
11/27 |
- |
17-41243941-G-A |
BRCA1 |
c.3607C>T |
p.Arg1203* |
Nonsense |
10/23 |
- |
13-32944685-C-A |
BRCA2 |
c.8478C>A |
p.Tyr2826* |
Nonsense |
19/27 |
- |
13-32929170-A-T |
BRCA2 |
c.7180A>T |
p.Arg2394* |
Nonsense |
14/27 |
- |
13-32931897-T-C |
BRCA2 |
c.7636T>C |
p.Ser2546Pro |
Missense |
16/27 |
- |
13-32913261-A-G |
BRCA2 |
c.4769A>G |
p.Lys1590Arg |
Missense |
11/27 |
- |
17-41243680-T-C |
BRCA1 |
c.3868A>G |
p.Lys1290Glu |
Missense |
10/23 |
- |
13-32914897-ACTTAA-A |
BRCA2 |
c.6405_6409delCTTAA |
p.Asn2135Lysfs*3 |
Frameshift |
11/27 |
- |
13-32910985-T-TT |
BRCA2 |
c.2493dupT |
p.Glu832*fs*1 |
Nonsense |
11/27 |
- |
17-41245267-C-G |
BRCA1 |
c.2281G>C |
p.Glu761Gln |
Missense |
10/23 |
- |
13-32921038-G-A |
BRCA2 |
c.7007+5G>A |
- |
IntronicSNV |
- |
13/26 |
13-32906957-C-T |
BRCA2 |
c.1342C>T |
p.Arg448Cys |
Missense |
10/27 |
- |
17-41245595-C-CC |
BRCA1 |
c.1953_1953dupG |
p.Lys652Glufs*21 |
Frameshift |
10/23 |
- |
13-32929062-T-C |
BRCA2 |
c.7072T>C |
p.Ser2358Pro |
Missense |
14/27 |
- |
17-41251851-C-G |
BRCA1 |
c.488G>C |
p.Arg163Thr |
Missense |
7/23 |
- |
13-32914529-A-T |
BRCA2 |
c.6037A>T |
p.Lys2013* |
Nonsense |
11/27 |
- |
13-32914529-A-G |
BRCA2 |
c.6037A>G |
p.Lys2013Glu |
Missense |
11/27 |
- |
6-54025394-T-G |
MLIP |
c.831T>G |
p.Ser277Ser |
Synonymous |
6/13 |
- |
13-32937601-T-G |
BRCA2 |
c.8262T>G |
p.His2754Gln |
Missense |
18/27 |
- |
13-32907165-A-G |
BRCA2 |
c.1550A>G |
p.Asn517Ser |
Missense |
10/27 |
- |
13-32953453-G-A |
BRCA2 |
c.8755-1G>A |
- |
IntronicSNV |
- |
21/26 |
13-32936732-G-C |
BRCA2 |
c.7878G>C |
p.Trp2626Cys |
Missense |
17/27 |
- |
13-32912175-A-G |
BRCA2 |
c.3683A>G |
p.Asn1228Ser |
Missense |
11/27 |
- |
17-41243451-C-T |
BRCA1 |
c.4096+1G>A |
- |
IntronicSNV |
- |
10/22 |
17-41234451-G-A |
BRCA1 |
c.4327C>T |
p.Arg1443* |
Nonsense |
12/23 |
- |
13-32906859-A-G |
BRCA2 |
c.1244A>G |
p.His415Arg |
Missense |
10/27 |
- |
13-32906561-A-G |
BRCA2 |
c.946A>G |
p.Arg316Gly |
Missense |
10/27 |
- |
13-32906937-C-T |
BRCA2 |
c.1322C>T |
p.Thr441Ile |
Missense |
10/27 |
- |
13-32911300-AACAA-A |
BRCA2 |
c.2808_2811delACAA |
p.Ala938Profs*21 |
Frameshift |
11/27 |
- |
13-32930635-GC-G |
BRCA2 |
c.7506delC |
p.Val2503Serfs*21 |
Frameshift |
15/27 |
- |
13-32915083-CTG-C |
BRCA2 |
c.6591_6592delTG |
p.Glu2198Asnfs*4 |
Frameshift |
11/27 |
- |
13-32929215-C-T |
BRCA2 |
c.7225C>T |
p.Pro2409Ser |
Missense |
14/27 |
- |
13-32912546-G-A |
BRCA2 |
c.4054G>A |
p.Asp1352Asn |
Missense |
11/27 |
- |
13-32936756-G-A |
BRCA2 |
c.7902G>A |
p.Met2634Ile |
Missense |
17/27 |
- |
13-32911436-A-C |
BRCA2 |
c.2944A>C |
p.Ile982Leu |
Missense |
11/27 |
- |
17-41197820-C-T |
BRCA1 |
c.5468-1G>A |
- |
IntronicSNV |
- |
22/22 |
13-32911143-C-G |
BRCA2 |
c.2651C>G |
p.Ser884* |
Nonsense |
11/27 |
- |
17-41246531-C-CG |
BRCA1 |
c.1016_1017insC |
p.Lys339Asnfs*7 |
Frameshift |
10/23 |
- |
6-54066999-T-C |
MLIP |
c.1081T>C |
p.Leu361Leu |
Synonymous |
10/13 |
- |
17-41199683-C-T |
BRCA1 |
c.5444G>A |
p.Trp1815* |
Nonsense |
22/23 |
- |
13-32912546-G-T |
BRCA2 |
c.4054G>T |
p.Asp1352Tyr |
Missense |
11/27 |
- |
17-41228505-C-A |
BRCA1 |
c.4484G>T |
p.Arg1495Met |
Missense |
13/23 |
- |
17-41219665-GATTAG-G |
BRCA1 |
c.5035_5039delCTAAT |
p.Leu1679Tyrfs*2 |
Frameshift |
16/23 |
- |
13-32913066-A-G |
BRCA2 |
c.4574A>G |
p.His1525Arg |
Missense |
11/27 |
- |
13-32913920-G-A |
BRCA2 |
c.5428G>A |
p.Val1810Ile |
Missense |
11/27 |
- |
13-32906733-A-C |
BRCA2 |
c.1118A>C |
p.Gln373Pro |
Missense |
10/27 |
- |