PMID: 32438681

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Cancers
C Santonocito, R Rizza, I Paris, L Marchis, C Paolillo, G Tiberi, G Scambia, E Capoluongo
2020-05-19

258 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
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 -