Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.32370402_32380145delCA2581463483BRCA2c.8332_9256del
c.8332_*623del
c.7963_8887del
c.8332_*818del
c.8332_9205del
c.799_1672del
c.8340_9264del
c.897_2134del
c.8236_9160del
13g.32378158_32383530delCA2580087446BRCA2c.8755-1159_9256+3385del
c.*122-1159_*623+3385del
c.8386-1159_8887+3385del
c.*317-1159_*818+3385del
c.8755-1159_9257-363del
c.8755-1159_9205+3385del
c.1222-1159_1672+3385del
n.882-1159_1383+3385del
c.8763-1159_9264+3385del
c.1633-1159_2134+3385del
c.8659-1159_9160+3385del
 ClinVar
13g.32378942_32380826delCA10602552BRCA2c.8755-375_9256+681del
c.*122-375_*623+681del
c.8386-375_8887+681del
c.*317-375_*818+681del
c.8755-375_9205+681del
c.1222-375_1672+681del
n.882-375_1383+681del
c.8763-375_9264+681del
c.1633-375_2134+681del
c.8659-375_9160+681del
 ClinVar
13g.32379740_32380024delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTACA2082837297BRCA2c.8954-10_9135delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA
c.*321-10_*502delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA
c.8585-10_8766delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA
c.*516-10_*697delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA
c.8954-61_9084delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA
c.1421-61_1551delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA
n.1081-10_1262delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA
c.8962-10_9143delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA
c.1832-10_2013delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA
c.8858-10_9039delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA
13g.32379742_32380025delCA645369604BRCA2c.8954-8_9136del
c.*321-8_*503del
c.8585-8_8767del
c.*516-8_*698del
c.8954-59_9085del
c.1421-59_1552del
n.1081-8_1263del
c.8962-8_9144del
c.1832-8_2014del
c.8858-8_9040del
 ClinVar dbSNP
13g.32379995_32380006delinsTGTTTTCTGTAGCA2082839779BRCA2c.9118-12_9118-1delinsTGTTTTCTGTAG (n.9118-12_9118-1delinsTGTTTTCTGTAG)
c.*485-12_*485-1delinsTGTTTTCTGTAG (n.*485-12_*485-1delinsTGTTTTCTGTAG)
c.8749-12_8749-1delinsTGTTTTCTGTAG (n.8749-12_8749-1delinsTGTTTTCTGTAG)
c.*680-12_*680-1delinsTGTTTTCTGTAG (n.*680-12_*680-1delinsTGTTTTCTGTAG)
c.9067-12_9067-1delinsTGTTTTCTGTAG (n.9067-12_9067-1delinsTGTTTTCTGTAG)
c.1534-12_1534-1delinsTGTTTTCTGTAG (n.1534-12_1534-1delinsTGTTTTCTGTAG)
n.1245-12_1245-1delinsTGTTTTCTGTAG
c.9126-12_9126-1delinsTGTTTTCTGTAG (n.9126-12_9126-1delinsTGTTTTCTGTAG)
c.1996-12_1996-1delinsTGTTTTCTGTAG
c.75-12_75-1delinsTGTTTTCTGTAG
c.9022-12_9022-1delinsTGTTTTCTGTAG (n.9022-12_9022-1delinsTGTTTTCTGTAG)
13g.32380000_32380010delCA10602559BRCA2c.9118-7_9121del
c.*485-7_*488del
c.8749-7_8752del
c.*680-7_*683del
c.9067-7_9070del
c.1534-7_1537del
n.1245-7_1248del
c.9126-7_9129del
c.1996-7_1999del
c.75-7_78del
c.9022-7_9025del
 ClinVar dbSNP
13g.32380003_32380005delinsTTTCA658761199BRCA2c.9118-4_9118-2delinsTTT (n.9118-4_9118-2delinsTTT)
c.*485-4_*485-2delinsTTT (n.*485-4_*485-2delinsTTT)
c.8749-4_8749-2delinsTTT (n.8749-4_8749-2delinsTTT)
c.*680-4_*680-2delinsTTT (n.*680-4_*680-2delinsTTT)
c.9067-4_9067-2delinsTTT (n.9067-4_9067-2delinsTTT)
c.1534-4_1534-2delinsTTT (n.1534-4_1534-2delinsTTT)
n.1245-4_1245-2delinsTTT
c.9126-4_9126-2delinsTTT (n.9126-4_9126-2delinsTTT)
c.1996-4_1996-2delinsTTT
c.75-4_75-2delinsTTT
c.9022-4_9022-2delinsTTT (n.9022-4_9022-2delinsTTT)
13g.32380004_32380013delCA2697551700BRCA2c.9118-3_9124del
c.*485-3_*491del
c.8749-3_8755del
c.*680-3_*686del
c.9067-3_9073del
c.1534-3_1540del
n.1245-3_1251del
c.9126-3_9132del
c.1996-3_2002del
c.75-3_81del
c.9022-3_9028del
 ClinVar
13g.32380005A=CA2082839910BRCA2c.9118-2A= (n.9118-2A=)
c.*485-2A= (n.*485-2A=)
c.8749-2A= (n.8749-2A=)
c.*680-2A= (n.*680-2A=)
c.9067-2A= (n.9067-2A=)
c.1534-2A= (n.1534-2A=)
n.1245-2A=
c.9126-2A= (n.9126-2A=)
c.1996-2A=
c.75-2A=
c.9022-2A= (n.9022-2A=)
13g.32380005A>CCA10602560BRCA2c.9118-2A>C (n.9118-2A>C)
c.*485-2A>C (n.*485-2A>C)
c.8749-2A>C (n.8749-2A>C)
c.*680-2A>C (n.*680-2A>C)
c.9067-2A>C (n.9067-2A>C)
c.1534-2A>C (n.1534-2A>C)
n.1245-2A>C
c.9126-2A>C (n.9126-2A>C)
c.1996-2A>C
c.75-2A>C
c.9022-2A>C (n.9022-2A>C)
 ClinVar dbSNP
13g.32380005A>GCA025996BRCA2c.9118-2A>G (n.9118-2A>G)
c.*485-2A>G (n.*485-2A>G)
c.8749-2A>G (n.8749-2A>G)
c.*680-2A>G (n.*680-2A>G)
c.9067-2A>G (n.9067-2A>G)
c.1534-2A>G (n.1534-2A>G)
n.1245-2A>G
c.9126-2A>G (n.9126-2A>G)
c.1996-2A>G
c.75-2A>G
c.9022-2A>G (n.9022-2A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32380005A>TCA10602561BRCA2c.9118-2A>T (n.9118-2A>T)
c.*485-2A>T (n.*485-2A>T)
c.8749-2A>T (n.8749-2A>T)
c.*680-2A>T (n.*680-2A>T)
c.9067-2A>T (n.9067-2A>T)
c.1534-2A>T (n.1534-2A>T)
n.1245-2A>T
c.9126-2A>T (n.9126-2A>T)
c.1996-2A>T
c.75-2A>T
c.9022-2A>T (n.9022-2A>T)
 ClinVar dbSNP COSMIC COSMIC
13g.32380006G>ACA10602562BRCA2c.9118-1G>A (n.9118-1G>A)
c.*485-1G>A (n.*485-1G>A)
c.8749-1G>A (n.8749-1G>A)
c.*680-1G>A (n.*680-1G>A)
c.9067-1G>A (n.9067-1G>A)
c.1534-1G>A (n.1534-1G>A)
n.1245-1G>A
c.9126-1G>A (n.9126-1G>A)
c.1996-1G>A
c.75-1G>A
c.9022-1G>A (n.9022-1G>A)
 ClinVar dbSNP
13g.32380006G>CCA10654944BRCA2c.9118-1G>C (n.9118-1G>C)
c.*485-1G>C (n.*485-1G>C)
c.8749-1G>C (n.8749-1G>C)
c.*680-1G>C (n.*680-1G>C)
c.9067-1G>C (n.9067-1G>C)
c.1534-1G>C (n.1534-1G>C)
n.1245-1G>C
c.9126-1G>C (n.9126-1G>C)
c.1996-1G>C
c.75-1G>C
c.9022-1G>C (n.9022-1G>C)
 ClinVar dbSNP
13g.32380006G=CA2082839921BRCA2c.9118-1G= (n.9118-1G=)
c.*485-1G= (n.*485-1G=)
c.8749-1G= (n.8749-1G=)
c.*680-1G= (n.*680-1G=)
c.9067-1G= (n.9067-1G=)
c.1534-1G= (n.1534-1G=)
n.1245-1G=
c.9126-1G= (n.9126-1G=)
c.1996-1G=
c.75-1G=
c.9022-1G= (n.9022-1G=)
13g.32380006G>TCA387757758BRCA2c.9118-1G>T (n.9118-1G>T)
c.*485-1G>T (n.*485-1G>T)
c.8749-1G>T (n.8749-1G>T)
c.*680-1G>T (n.*680-1G>T)
c.9067-1G>T (n.9067-1G>T)
c.1534-1G>T (n.1534-1G>T)
n.1245-1G>T
c.9126-1G>T (n.9126-1G>T)
c.1996-1G>T
c.75-1G>T
c.9022-1G>T (n.9022-1G>T)
 dbSNP
13g.32380007G>ACA025998BRCA2c.9118G>A (p.Val3040Ile)
c.*485G>A (n.*485G>A)
c.8749G>A (p.Val2917Ile)
c.*680G>A (n.*680G>A)
c.9067G>A (p.Val3023Ile)
c.1534G>A (p.Val512Ile)
n.1245G>A
c.9126G>A (n.9126G>A)
c.1996G>A
c.1G>A (p.Val1Ile)
c.75G>A
c.9022G>A (p.Val3008Ile)
 ClinVar dbSNP
13g.32380007G>CCA387757759BRCA2c.9118G>C (p.Val3040Leu)
c.*485G>C (n.*485G>C)
c.8749G>C (p.Val2917Leu)
c.*680G>C (n.*680G>C)
c.9067G>C (p.Val3023Leu)
c.1534G>C (p.Val512Leu)
n.1245G>C
c.9126G>C (n.9126G>C)
c.1996G>C
c.1G>C (p.Val1Leu)
c.75G>C
c.9022G>C (p.Val3008Leu)
 dbSNP
13g.32380007G=CA2082839933BRCA2c.9118G= (p.Val3040=)
c.*485G= (n.*485G=)
c.8749G= (p.Val2917=)
c.*680G= (n.*680G=)
c.9067G= (p.Val3023=)
c.1534G= (p.Val512=)
n.1245G=
c.9126G= (n.9126G=)
c.1996G=
c.1G= (p.Val1=)
c.75G=
c.9022G= (p.Val3008=)
13g.32380007G>TCA387757760BRCA2c.9118G>T (p.Val3040Phe)
c.*485G>T (n.*485G>T)
c.8749G>T (p.Val2917Phe)
c.*680G>T (n.*680G>T)
c.9067G>T (p.Val3023Phe)
c.1534G>T (p.Val512Phe)
n.1245G>T
c.9126G>T (n.9126G>T)
c.1996G>T
c.1G>T (p.Val1Phe)
c.75G>T
c.9022G>T (p.Val3008Phe)
 ClinVar dbSNP
13g.32380008T>ACA387757761BRCA2c.9119T>A (p.Val3040Asp)
c.*486T>A (n.*486T>A)
c.8750T>A (p.Val2917Asp)
c.*681T>A (n.*681T>A)
c.9068T>A (p.Val3023Asp)
c.1535T>A (p.Val512Asp)
n.1246T>A
c.9127T>A (n.9127T>A)
c.1997T>A
c.2T>A (p.Val1Asp)
c.76T>A
c.9023T>A (p.Val3008Asp)
 dbSNP
13g.32380008T>CCA025999BRCA2c.9119T>C (p.Val3040Ala)
c.*486T>C (n.*486T>C)
c.8750T>C (p.Val2917Ala)
c.*681T>C (n.*681T>C)
c.9068T>C (p.Val3023Ala)
c.1535T>C (p.Val512Ala)
n.1246T>C
c.9127T>C (n.9127T>C)
c.1997T>C
c.2T>C (p.Val1Ala)
c.76T>C
c.9023T>C (p.Val3008Ala)
 ClinVar dbSNP
13g.32380008T>GCA387757762BRCA2c.9119T>G (p.Val3040Gly)
c.*486T>G (n.*486T>G)
c.8750T>G (p.Val2917Gly)
c.*681T>G (n.*681T>G)
c.9068T>G (p.Val3023Gly)
c.1535T>G (p.Val512Gly)
n.1246T>G
c.9127T>G (n.9127T>G)
c.1997T>G
c.2T>G (p.Val1Gly)
c.76T>G
c.9023T>G (p.Val3008Gly)
13g.32380008T=CA2082839947BRCA2c.9119T= (p.Val3040=)
c.*486T= (n.*486T=)
c.8750T= (p.Val2917=)
c.*681T= (n.*681T=)
c.9068T= (p.Val3023=)
c.1535T= (p.Val512=)
n.1246T=
c.9127T= (n.9127T=)
c.1997T=
c.2T= (p.Val1=)
c.76T=
c.9023T= (p.Val3008=)
13g.32380009T>ACA483262018BRCA2c.9120T>A (p.Val3040=)
c.*487T>A (n.*487T>A)
c.8751T>A (p.Val2917=)
c.*682T>A (n.*682T>A)
c.9069T>A (p.Val3023=)
c.1536T>A (p.Val512=)
n.1247T>A
c.9128T>A (n.9128T>A)
c.1998T>A
c.3T>A (p.Val1=)
c.77T>A
c.9024T>A (p.Val3008=)
 dbSNP
13g.32380009T>CCA483262019BRCA2c.9120T>C (p.Val3040=)
c.*487T>C (n.*487T>C)
c.8751T>C (p.Val2917=)
c.*682T>C (n.*682T>C)
c.9069T>C (p.Val3023=)
c.1536T>C (p.Val512=)
n.1247T>C
c.9128T>C (n.9128T>C)
c.1998T>C
c.3T>C (p.Val1=)
c.77T>C
c.9024T>C (p.Val3008=)
13g.32380009T>GCA483262020BRCA2c.9120T>G (p.Val3040=)
c.*487T>G (n.*487T>G)
c.8751T>G (p.Val2917=)
c.*682T>G (n.*682T>G)
c.9069T>G (p.Val3023=)
c.1536T>G (p.Val512=)
n.1247T>G
c.9128T>G (n.9128T>G)
c.1998T>G
c.3T>G (p.Val1=)
c.77T>G
c.9024T>G (p.Val3008=)
13g.32380010T>ACA387757764BRCA2c.9121T>A (p.Ser3041Thr)
c.*488T>A (n.*488T>A)
c.8752T>A (p.Ser2918Thr)
c.*683T>A (n.*683T>A)
c.9070T>A (p.Ser3024Thr)
c.1537T>A (p.Ser513Thr)
n.1248T>A
c.9129T>A (n.9129T>A)
c.1999T>A
c.4T>A (p.Ser2Thr)
c.78T>A
c.9025T>A (p.Ser3009Thr)
 dbSNP gnomAD v3 gnomAD v4
13g.32380010T>CCA387757765BRCA2c.9121T>C (p.Ser3041Pro)
c.*488T>C (n.*488T>C)
c.8752T>C (p.Ser2918Pro)
c.*683T>C (n.*683T>C)
c.9070T>C (p.Ser3024Pro)
c.1537T>C (p.Ser513Pro)
n.1248T>C
c.9129T>C (n.9129T>C)
c.1999T>C
c.4T>C (p.Ser2Pro)
c.78T>C
c.9025T>C (p.Ser3009Pro)
13g.32380010T>GCA387757766BRCA2c.9121T>G (p.Ser3041Ala)
c.*488T>G (n.*488T>G)
c.8752T>G (p.Ser2918Ala)
c.*683T>G (n.*683T>G)
c.9070T>G (p.Ser3024Ala)
c.1537T>G (p.Ser513Ala)
n.1248T>G
c.9129T>G (n.9129T>G)
c.1999T>G
c.4T>G (p.Ser2Ala)
c.78T>G
c.9025T>G (p.Ser3009Ala)
13g.32380011C>ACA387757768BRCA2c.9122C>A (p.Ser3041Ter)
c.*489C>A (n.*489C>A)
c.8753C>A (p.Ser2918Ter)
c.*684C>A (n.*684C>A)
c.9071C>A (p.Ser3024Ter)
c.1538C>A (p.Ser513Ter)
n.1249C>A
c.9130C>A (n.9130C>A)
c.2000C>A
c.5C>A (p.Ser2Ter)
c.79C>A
c.9026C>A (p.Ser3009Ter)
 dbSNP
13g.32380011C>GCA387757769BRCA2c.9122C>G (p.Ser3041Ter)
c.*489C>G (n.*489C>G)
c.8753C>G (p.Ser2918Ter)
c.*684C>G (n.*684C>G)
c.9071C>G (p.Ser3024Ter)
c.1538C>G (p.Ser513Ter)
n.1249C>G
c.9130C>G (n.9130C>G)
c.2000C>G
c.5C>G (p.Ser2Ter)
c.79C>G
c.9026C>G (p.Ser3009Ter)
 dbSNP
13g.32380011C>TCA387757770BRCA2c.9122C>T (p.Ser3041Leu)
c.*489C>T (n.*489C>T)
c.8753C>T (p.Ser2918Leu)
c.*684C>T (n.*684C>T)
c.9071C>T (p.Ser3024Leu)
c.1538C>T (p.Ser513Leu)
n.1249C>T
c.9130C>T (n.9130C>T)
c.2000C>T
c.5C>T (p.Ser2Leu)
c.79C>T
c.9026C>T (p.Ser3009Leu)
 dbSNP
13g.32380012A>CCA483262023BRCA2c.9123A>C (p.Ser3041=)
c.*490A>C (n.*490A>C)
c.8754A>C (p.Ser2918=)
c.*685A>C (n.*685A>C)
c.9072A>C (p.Ser3024=)
c.1539A>C (p.Ser513=)
n.1250A>C
c.9131A>C (n.9131A>C)
c.2001A>C
c.6A>C (p.Ser2=)
c.80A>C
c.9027A>C (p.Ser3009=)
13g.32380012A>GCA483262025BRCA2c.9123A>G (p.Ser3041=)
c.*490A>G (n.*490A>G)
c.8754A>G (p.Ser2918=)
c.*685A>G (n.*685A>G)
c.9072A>G (p.Ser3024=)
c.1539A>G (p.Ser513=)
n.1250A>G
c.9131A>G (n.9131A>G)
c.2001A>G
c.6A>G (p.Ser2=)
c.80A>G
c.9027A>G (p.Ser3009=)
13g.32380012A>TCA483262026BRCA2c.9123A>T (p.Ser3041=)
c.*490A>T (n.*490A>T)
c.8754A>T (p.Ser2918=)
c.*685A>T (n.*685A>T)
c.9072A>T (p.Ser3024=)
c.1539A>T (p.Ser513=)
n.1250A>T
c.9131A>T (n.9131A>T)
c.2001A>T
c.6A>T (p.Ser2=)
c.80A>T
c.9027A>T (p.Ser3009=)
 ClinVar dbSNP
13g.32380013G>ACA387757773BRCA2c.9124G>A (p.Asp3042Asn)
c.*491G>A (n.*491G>A)
c.8755G>A (p.Asp2919Asn)
c.*686G>A (n.*686G>A)
c.9073G>A (p.Asp3025Asn)
c.1540G>A (p.Asp514Asn)
n.1251G>A
c.9132G>A (n.9132G>A)
c.2002G>A
c.7G>A (p.Asp3Asn)
c.81G>A
c.9028G>A (p.Asp3010Asn)
 dbSNP gnomAD v4
13g.32380013G>CCA387757771BRCA2c.9124G>C (p.Asp3042His)
c.*491G>C (n.*491G>C)
c.8755G>C (p.Asp2919His)
c.*686G>C (n.*686G>C)
c.9073G>C (p.Asp3025His)
c.1540G>C (p.Asp514His)
n.1251G>C
c.9132G>C (n.9132G>C)
c.2002G>C
c.7G>C (p.Asp3His)
c.81G>C
c.9028G>C (p.Asp3010His)
 ClinVar dbSNP
13g.32380013G>TCA387757772BRCA2c.9124G>T (p.Asp3042Tyr)
c.*491G>T (n.*491G>T)
c.8755G>T (p.Asp2919Tyr)
c.*686G>T (n.*686G>T)
c.9073G>T (p.Asp3025Tyr)
c.1540G>T (p.Asp514Tyr)
n.1251G>T
c.9132G>T (n.9132G>T)
c.2002G>T
c.7G>T (p.Asp3Tyr)
c.81G>T
c.9028G>T (p.Asp3010Tyr)
13g.32380014A=CA2082839952BRCA2c.9125A= (p.Asp3042=)
c.*492A= (n.*492A=)
c.8756A= (p.Asp2919=)
c.*687A= (n.*687A=)
c.9074A= (p.Asp3025=)
c.1541A= (p.Asp514=)
n.1252A=
c.9133A= (n.9133A=)
c.2003A=
c.8A= (p.Asp3=)
c.82A=
c.9029A= (p.Asp3010=)
13g.32380014A>CCA387757775BRCA2c.9125A>C (p.Asp3042Ala)
c.*492A>C (n.*492A>C)
c.8756A>C (p.Asp2919Ala)
c.*687A>C (n.*687A>C)
c.9074A>C (p.Asp3025Ala)
c.1541A>C (p.Asp514Ala)
n.1252A>C
c.9133A>C (n.9133A>C)
c.2003A>C
c.8A>C (p.Asp3Ala)
c.82A>C
c.9029A>C (p.Asp3010Ala)
13g.32380014A>GCA026000BRCA2c.9125A>G (p.Asp3042Gly)
c.*492A>G (n.*492A>G)
c.8756A>G (p.Asp2919Gly)
c.*687A>G (n.*687A>G)
c.9074A>G (p.Asp3025Gly)
c.1541A>G (p.Asp514Gly)
n.1252A>G
c.9133A>G (n.9133A>G)
c.2003A>G
c.8A>G (p.Asp3Gly)
c.82A>G
c.9029A>G (p.Asp3010Gly)
 ClinVar dbSNP
13g.32380014A>TCA387757776BRCA2c.9125A>T (p.Asp3042Val)
c.*492A>T (n.*492A>T)
c.8756A>T (p.Asp2919Val)
c.*687A>T (n.*687A>T)
c.9074A>T (p.Asp3025Val)
c.1541A>T (p.Asp514Val)
n.1252A>T
c.9133A>T (n.9133A>T)
c.2003A>T
c.8A>T (p.Asp3Val)
c.82A>T
c.9029A>T (p.Asp3010Val)
 dbSNP
13g.32380015T>ACA387757778BRCA2c.9126T>A (p.Asp3042Glu)
c.*493T>A (n.*493T>A)
c.8757T>A (p.Asp2919Glu)
c.*688T>A (n.*688T>A)
c.9075T>A (p.Asp3025Glu)
c.1542T>A (p.Asp514Glu)
n.1253T>A
c.9134T>A (n.9134T>A)
c.2004T>A
c.9T>A (p.Asp3Glu)
c.83T>A
c.9030T>A (p.Asp3010Glu)
 dbSNP
13g.32380015T>CCA483262027BRCA2c.9126T>C (p.Asp3042=)
c.*493T>C (n.*493T>C)
c.8757T>C (p.Asp2919=)
c.*688T>C (n.*688T>C)
c.9075T>C (p.Asp3025=)
c.1542T>C (p.Asp514=)
n.1253T>C
c.9134T>C (n.9134T>C)
c.2004T>C
c.9T>C (p.Asp3=)
c.83T>C
c.9030T>C (p.Asp3010=)
 ClinVar dbSNP
13g.32380015T>GCA387757780BRCA2c.9126T>G (p.Asp3042Glu)
c.*493T>G (n.*493T>G)
c.8757T>G (p.Asp2919Glu)
c.*688T>G (n.*688T>G)
c.9075T>G (p.Asp3025Glu)
c.1542T>G (p.Asp514Glu)
n.1253T>G
c.9134T>G (n.9134T>G)
c.2004T>G
c.9T>G (p.Asp3Glu)
c.83T>G
c.9030T>G (p.Asp3010Glu)
13g.32380015T=CA2082839963BRCA2c.9126T= (p.Asp3042=)
c.*493T= (n.*493T=)
c.8757T= (p.Asp2919=)
c.*688T= (n.*688T=)
c.9075T= (p.Asp3025=)
c.1542T= (p.Asp514=)
n.1253T=
c.9134T= (n.9134T=)
c.2004T=
c.9T= (p.Asp3=)
c.83T=
c.9030T= (p.Asp3010=)
13g.32380016G>ACA387757781BRCA2c.9127G>A (p.Glu3043Lys)
c.*494G>A (n.*494G>A)
c.8758G>A (p.Glu2920Lys)
c.*689G>A (n.*689G>A)
c.9076G>A (p.Glu3026Lys)
c.1543G>A (p.Glu515Lys)
n.1254G>A
c.9135G>A (n.9135G>A)
c.2005G>A
c.10G>A (p.Glu4Lys)
c.84G>A
c.9031G>A (p.Glu3011Lys)
 ClinVar dbSNP
13g.32380016G>CCA387757783BRCA2c.9127G>C (p.Glu3043Gln)
c.*494G>C (n.*494G>C)
c.8758G>C (p.Glu2920Gln)
c.*689G>C (n.*689G>C)
c.9076G>C (p.Glu3026Gln)
c.1543G>C (p.Glu515Gln)
n.1254G>C
c.9135G>C (n.9135G>C)
c.2005G>C
c.10G>C (p.Glu4Gln)
c.84G>C
c.9031G>C (p.Glu3011Gln)
 dbSNP
13g.32380016G=CA2082839972BRCA2c.9127G= (p.Glu3043=)
c.*494G= (n.*494G=)
c.8758G= (p.Glu2920=)
c.*689G= (n.*689G=)
c.9076G= (p.Glu3026=)
c.1543G= (p.Glu515=)
n.1254G=
c.9135G= (n.9135G=)
c.2005G=
c.10G= (p.Glu4=)
c.84G=
c.9031G= (p.Glu3011=)
13g.32380016G>TCA026001BRCA2c.9127G>T (p.Glu3043Ter)
c.*494G>T (n.*494G>T)
c.8758G>T (p.Glu2920Ter)
c.*689G>T (n.*689G>T)
c.9076G>T (p.Glu3026Ter)
c.1543G>T (p.Glu515Ter)
n.1254G>T
c.9135G>T (n.9135G>T)
c.2005G>T
c.10G>T (p.Glu4Ter)
c.84G>T
c.9031G>T (p.Glu3011Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32380017A>CCA387757785BRCA2c.9128A>C (p.Glu3043Ala)
c.*495A>C (n.*495A>C)
c.8759A>C (p.Glu2920Ala)
c.*690A>C (n.*690A>C)
c.9077A>C (p.Glu3026Ala)
c.1544A>C (p.Glu515Ala)
n.1255A>C
c.9136A>C (n.9136A>C)
c.2006A>C
c.11A>C (p.Glu4Ala)
c.85A>C
c.9032A>C (p.Glu3011Ala)
13g.32380017A>GCA387757786BRCA2c.9128A>G (p.Glu3043Gly)
c.*495A>G (n.*495A>G)
c.8759A>G (p.Glu2920Gly)
c.*690A>G (n.*690A>G)
c.9077A>G (p.Glu3026Gly)
c.1544A>G (p.Glu515Gly)
n.1255A>G
c.9136A>G (n.9136A>G)
c.2006A>G
c.11A>G (p.Glu4Gly)
c.85A>G
c.9032A>G (p.Glu3011Gly)
 dbSNP
13g.32380017A>TCA387757788BRCA2c.9128A>T (p.Glu3043Val)
c.*495A>T (n.*495A>T)
c.8759A>T (p.Glu2920Val)
c.*690A>T (n.*690A>T)
c.9077A>T (p.Glu3026Val)
c.1544A>T (p.Glu515Val)
n.1255A>T
c.9136A>T (n.9136A>T)
c.2006A>T
c.11A>T (p.Glu4Val)
c.85A>T
c.9032A>T (p.Glu3011Val)
 dbSNP
13g.32380018A=CA2082839980BRCA2c.9129A= (p.Glu3043=)
c.*496A= (n.*496A=)
c.8760A= (p.Glu2920=)
c.*691A= (n.*691A=)
c.9078A= (p.Glu3026=)
c.1545A= (p.Glu515=)
n.1256A=
c.9137A= (n.9137A=)
c.2007A=
c.12A= (p.Glu4=)
c.86A=
c.9033A= (p.Glu3011=)
13g.32380018A>CCA387757792BRCA2c.9129A>C (p.Glu3043Asp)
c.*496A>C (n.*496A>C)
c.8760A>C (p.Glu2920Asp)
c.*691A>C (n.*691A>C)
c.9078A>C (p.Glu3026Asp)
c.1545A>C (p.Glu515Asp)
n.1256A>C
c.9137A>C (n.9137A>C)
c.2007A>C
c.12A>C (p.Glu4Asp)
c.86A>C
c.9033A>C (p.Glu3011Asp)
 dbSNP
13g.32380018A>GCA16606832BRCA2c.9129A>G (p.Glu3043=)
c.*496A>G (n.*496A>G)
c.8760A>G (p.Glu2920=)
c.*691A>G (n.*691A>G)
c.9078A>G (p.Glu3026=)
c.1545A>G (p.Glu515=)
n.1256A>G
c.9137A>G (n.9137A>G)
c.2007A>G
c.12A>G (p.Glu4=)
c.86A>G
c.9033A>G (p.Glu3011=)
 ClinVar dbSNP gnomAD v4
13g.32380018A>TCA387757790BRCA2c.9129A>T (p.Glu3043Asp)
c.*496A>T (n.*496A>T)
c.8760A>T (p.Glu2920Asp)
c.*691A>T (n.*691A>T)
c.9078A>T (p.Glu3026Asp)
c.1545A>T (p.Glu515Asp)
n.1256A>T
c.9137A>T (n.9137A>T)
c.2007A>T
c.12A>T (p.Glu4Asp)
c.86A>T
c.9033A>T (p.Glu3011Asp)
 ClinVar dbSNP
13g.32380019A=CA2082839995BRCA2c.9130A= (p.Ile3044=)
c.*497A= (n.*497A=)
c.8761A= (p.Ile2921=)
c.*692A= (n.*692A=)
c.9079A= (p.Ile3027=)
c.1546A= (p.Ile516=)
n.1257A=
c.9138A= (n.9138A=)
c.2008A=
c.13A= (p.Ile5=)
c.87A=
c.9034A= (p.Ile3012=)
13g.32380019A>CCA387757794BRCA2c.9130A>C (p.Ile3044Leu)
c.*497A>C (n.*497A>C)
c.8761A>C (p.Ile2921Leu)
c.*692A>C (n.*692A>C)
c.9079A>C (p.Ile3027Leu)
c.1546A>C (p.Ile516Leu)
n.1257A>C
c.9138A>C (n.9138A>C)
c.2008A>C
c.13A>C (p.Ile5Leu)
c.87A>C
c.9034A>C (p.Ile3012Leu)
13g.32380019A>GCA16606834BRCA2c.9130A>G (p.Ile3044Val)
c.*497A>G (n.*497A>G)
c.8761A>G (p.Ile2921Val)
c.*692A>G (n.*692A>G)
c.9079A>G (p.Ile3027Val)
c.1546A>G (p.Ile516Val)
n.1257A>G
c.9138A>G (n.9138A>G)
c.2008A>G
c.13A>G (p.Ile5Val)
c.87A>G
c.9034A>G (p.Ile3012Val)
 ClinVar dbSNP
13g.32380019A>TCA387757805BRCA2c.9130A>T (p.Ile3044Phe)
c.*497A>T (n.*497A>T)
c.8761A>T (p.Ile2921Phe)
c.*692A>T (n.*692A>T)
c.9079A>T (p.Ile3027Phe)
c.1546A>T (p.Ile516Phe)
n.1257A>T
c.9138A>T (n.9138A>T)
c.2008A>T
c.13A>T (p.Ile5Phe)
c.87A>T
c.9034A>T (p.Ile3012Phe)
13g.32380019_32380020delinsATCA2082839991BRCA2c.9130_9131delinsAT (p.Ile3044=)
c.*497_*498delinsAT (n.*497_*498delinsAT)
c.8761_8762delinsAT (p.Ile2921=)
c.*692_*693delinsAT (n.*692_*693delinsAT)
c.9079_9080delinsAT (p.Ile3027=)
c.1546_1547delinsAT (p.Ile516=)
n.1257_1258delinsAT
c.9138_9139delinsAT (n.9138_9139delinsAT)
c.2008_2009delinsAT
c.13_14delinsAT (p.Ile5=)
c.87_88delinsAT
c.9034_9035delinsAT (p.Ile3012=)
13g.32380020T>ACA387757811BRCA2c.9131T>A (p.Ile3044Asn)
c.*498T>A (n.*498T>A)
c.8762T>A (p.Ile2921Asn)
c.*693T>A (n.*693T>A)
c.9080T>A (p.Ile3027Asn)
c.1547T>A (p.Ile516Asn)
n.1258T>A
c.9139T>A (n.9139T>A)
c.2009T>A
c.14T>A (p.Ile5Asn)
c.88T>A
c.9035T>A (p.Ile3012Asn)
 dbSNP
13g.32380020T>CCA387757813BRCA2c.9131T>C (p.Ile3044Thr)
c.*498T>C (n.*498T>C)
c.8762T>C (p.Ile2921Thr)
c.*693T>C (n.*693T>C)
c.9080T>C (p.Ile3027Thr)
c.1547T>C (p.Ile516Thr)
n.1258T>C
c.9139T>C (n.9139T>C)
c.2009T>C
c.14T>C (p.Ile5Thr)
c.88T>C
c.9035T>C (p.Ile3012Thr)
 dbSNP
13g.32380020T>GCA387757817BRCA2c.9131T>G (p.Ile3044Ser)
c.*498T>G (n.*498T>G)
c.8762T>G (p.Ile2921Ser)
c.*693T>G (n.*693T>G)
c.9080T>G (p.Ile3027Ser)
c.1547T>G (p.Ile516Ser)
n.1258T>G
c.9139T>G (n.9139T>G)
c.2009T>G
c.14T>G (p.Ile5Ser)
c.88T>G
c.9035T>G (p.Ile3012Ser)
13g.32380023delCA10589549BRCA2c.9134del (p.Leu3045TyrfsTer17)
c.*501del (n.*501del)
c.8765del (p.Leu2922TyrfsTer17)
c.*696del (n.*696del)
c.9083del (p.Leu3028TyrfsTer17)
c.1550del (p.Leu517TyrfsTer17)
n.1261del
c.9142del (n.9142del)
c.2012del
c.17del (p.Leu6TyrfsTer17)
c.91del
c.9038del (p.Leu3013TyrfsTer17)
 ClinVar dbSNP
13g.32380021T>ACA483262032BRCA2c.9132T>A (p.Ile3044=)
c.*499T>A (n.*499T>A)
c.8763T>A (p.Ile2921=)
c.*694T>A (n.*694T>A)
c.9081T>A (p.Ile3027=)
c.1548T>A (p.Ile516=)
n.1259T>A
c.9140T>A (n.9140T>A)
c.2010T>A
c.15T>A (p.Ile5=)
c.89T>A
c.9036T>A (p.Ile3012=)
13g.32380021T>CCA483262033BRCA2c.9132T>C (p.Ile3044=)
c.*499T>C (n.*499T>C)
c.8763T>C (p.Ile2921=)
c.*694T>C (n.*694T>C)
c.9081T>C (p.Ile3027=)
c.1548T>C (p.Ile516=)
n.1259T>C
c.9140T>C (n.9140T>C)
c.2010T>C
c.15T>C (p.Ile5=)
c.89T>C
c.9036T>C (p.Ile3012=)
 dbSNP
13g.32380021T>GCA387757819BRCA2c.9132T>G (p.Ile3044Met)
c.*499T>G (n.*499T>G)
c.8763T>G (p.Ile2921Met)
c.*694T>G (n.*694T>G)
c.9081T>G (p.Ile3027Met)
c.1548T>G (p.Ile516Met)
n.1259T>G
c.9140T>G (n.9140T>G)
c.2010T>G
c.15T>G (p.Ile5Met)
c.89T>G
c.9036T>G (p.Ile3012Met)
13g.32380022T>ACA387757821BRCA2c.9133T>A (p.Leu3045Ile)
c.*500T>A (n.*500T>A)
c.8764T>A (p.Leu2922Ile)
c.*695T>A (n.*695T>A)
c.9082T>A (p.Leu3028Ile)
c.1549T>A (p.Leu517Ile)
n.1260T>A
c.9141T>A (n.9141T>A)
c.2011T>A
c.16T>A (p.Leu6Ile)
c.90T>A
c.9037T>A (p.Leu3013Ile)
 dbSNP
13g.32380022T>CCA483262034BRCA2c.9133T>C (p.Leu3045=)
c.*500T>C (n.*500T>C)
c.8764T>C (p.Leu2922=)
c.*695T>C (n.*695T>C)
c.9082T>C (p.Leu3028=)
c.1549T>C (p.Leu517=)
n.1260T>C
c.9141T>C (n.9141T>C)
c.2011T>C
c.16T>C (p.Leu6=)
c.90T>C
c.9037T>C (p.Leu3013=)
13g.32380022T>GCA387757824BRCA2c.9133T>G (p.Leu3045Val)
c.*500T>G (n.*500T>G)
c.8764T>G (p.Leu2922Val)
c.*695T>G (n.*695T>G)
c.9082T>G (p.Leu3028Val)
c.1549T>G (p.Leu517Val)
n.1260T>G
c.9141T>G (n.9141T>G)
c.2011T>G
c.16T>G (p.Leu6Val)
c.90T>G
c.9037T>G (p.Leu3013Val)
13g.32380023T>ACA387757827BRCA2c.9134T>A (p.Leu3045Ter)
c.*501T>A (n.*501T>A)
c.8765T>A (p.Leu2922Ter)
c.*696T>A (n.*696T>A)
c.9083T>A (p.Leu3028Ter)
c.1550T>A (p.Leu517Ter)
n.1261T>A
c.9142T>A (n.9142T>A)
c.2012T>A
c.17T>A (p.Leu6Ter)
c.91T>A
c.9038T>A (p.Leu3013Ter)
 dbSNP
13g.32380023T>CCA387757830BRCA2c.9134T>C (p.Leu3045Ser)
c.*501T>C (n.*501T>C)
c.8765T>C (p.Leu2922Ser)
c.*696T>C (n.*696T>C)
c.9083T>C (p.Leu3028Ser)
c.1550T>C (p.Leu517Ser)
n.1261T>C
c.9142T>C (n.9142T>C)
c.2012T>C
c.17T>C (p.Leu6Ser)
c.91T>C
c.9038T>C (p.Leu3013Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.32380023T>GCA387757832BRCA2c.9134T>G (p.Leu3045Ter)
c.*501T>G (n.*501T>G)
c.8765T>G (p.Leu2922Ter)
c.*696T>G (n.*696T>G)
c.9083T>G (p.Leu3028Ter)
c.1550T>G (p.Leu517Ter)
n.1261T>G
c.9142T>G (n.9142T>G)
c.2012T>G
c.17T>G (p.Leu6Ter)
c.91T>G
c.9038T>G (p.Leu3013Ter)
 dbSNP
13g.32380023T=CA2082840011BRCA2c.9134T= (p.Leu3045=)
c.*501T= (n.*501T=)
c.8765T= (p.Leu2922=)
c.*696T= (n.*696T=)
c.9083T= (p.Leu3028=)
c.1550T= (p.Leu517=)
n.1261T=
c.9142T= (n.9142T=)
c.2012T=
c.17T= (p.Leu6=)
c.91T=
c.9038T= (p.Leu3013=)
13g.32380024A=CA2082840024BRCA2c.9135A= (p.Leu3045=)
c.*502A= (n.*502A=)
c.8766A= (p.Leu2922=)
c.*697A= (n.*697A=)
c.9084A= (p.Leu3028=)
c.1551A= (p.Leu517=)
n.1262A=
c.9143A= (n.9143A=)
c.2013A=
c.18A= (p.Leu6=)
c.92A=
c.9039A= (p.Leu3013=)
13g.32380024A>CCA387757835BRCA2c.9135A>C (p.Leu3045Phe)
c.*502A>C (n.*502A>C)
c.8766A>C (p.Leu2922Phe)
c.*697A>C (n.*697A>C)
c.9084A>C (p.Leu3028Phe)
c.1551A>C (p.Leu517Phe)
n.1262A>C
c.9143A>C (n.9143A>C)
c.2013A>C
c.18A>C (p.Leu6Phe)
c.92A>C
c.9039A>C (p.Leu3013Phe)
13g.32380024A>GCA10579812BRCA2c.9135A>G (p.Leu3045=)
c.*502A>G (n.*502A>G)
c.8766A>G (p.Leu2922=)
c.*697A>G (n.*697A>G)
c.9084A>G (p.Leu3028=)
c.1551A>G (p.Leu517=)
n.1262A>G
c.9143A>G (n.9143A>G)
c.2013A>G
c.18A>G (p.Leu6=)
c.92A>G
c.9039A>G (p.Leu3013=)
 ClinVar dbSNP gnomAD v4
13g.32380024A>TCA387757834BRCA2c.9135A>T (p.Leu3045Phe)
c.*502A>T (n.*502A>T)
c.8766A>T (p.Leu2922Phe)
c.*697A>T (n.*697A>T)
c.9084A>T (p.Leu3028Phe)
c.1551A>T (p.Leu517Phe)
n.1262A>T
c.9143A>T (n.9143A>T)
c.2013A>T
c.18A>T (p.Leu6Phe)
c.92A>T
c.9039A>T (p.Leu3013Phe)
 ClinVar
13g.32380025T>ACA387757836BRCA2c.9136T>A (p.Phe3046Ile)
c.*503T>A (n.*503T>A)
c.8767T>A (p.Phe2923Ile)
c.*698T>A (n.*698T>A)
c.9085T>A (p.Phe3029Ile)
c.1552T>A (p.Phe518Ile)
n.1263T>A
c.9144T>A (n.9144T>A)
c.2014T>A
c.19T>A (p.Phe7Ile)
c.93T>A
c.9040T>A (p.Phe3014Ile)
 dbSNP
13g.32380025T>CCA387757838BRCA2c.9136T>C (p.Phe3046Leu)
c.*503T>C (n.*503T>C)
c.8767T>C (p.Phe2923Leu)
c.*698T>C (n.*698T>C)
c.9085T>C (p.Phe3029Leu)
c.1552T>C (p.Phe518Leu)
n.1263T>C
c.9144T>C (n.9144T>C)
c.2014T>C
c.19T>C (p.Phe7Leu)
c.93T>C
c.9040T>C (p.Phe3014Leu)
 ClinVar dbSNP gnomAD v4
13g.32380025T>GCA387757841BRCA2c.9136T>G (p.Phe3046Val)
c.*503T>G (n.*503T>G)
c.8767T>G (p.Phe2923Val)
c.*698T>G (n.*698T>G)
c.9085T>G (p.Phe3029Val)
c.1552T>G (p.Phe518Val)
n.1263T>G
c.9144T>G (n.9144T>G)
c.2014T>G
c.19T>G (p.Phe7Val)
c.93T>G
c.9040T>G (p.Phe3014Val)
13g.32380025T=CA2082840037BRCA2c.9136T= (p.Phe3046=)
c.*503T= (n.*503T=)
c.8767T= (p.Phe2923=)
c.*698T= (n.*698T=)
c.9085T= (p.Phe3029=)
c.1552T= (p.Phe518=)
n.1263T=
c.9144T= (n.9144T=)
c.2014T=
c.19T= (p.Phe7=)
c.93T=
c.9040T= (p.Phe3014=)
13g.32380027delCA2573149242BRCA2c.9138del (p.Gln3047ArgfsTer15)
c.*505del (n.*505del)
c.8769del (p.Gln2924ArgfsTer15)
c.*700del (n.*700del)
c.9087del (p.Gln3030ArgfsTer15)
c.1554del (p.Gln519ArgfsTer15)
n.1265del
c.9146del (n.9146del)
c.2016del
c.21del (p.Gln8ArgfsTer15)
c.95del
c.9042del (p.Gln3015ArgfsTer15)
 ClinVar dbSNP
13g.32380026T>ACA387757846BRCA2c.9137T>A (p.Phe3046Tyr)
c.*504T>A (n.*504T>A)
c.8768T>A (p.Phe2923Tyr)
c.*699T>A (n.*699T>A)
c.9086T>A (p.Phe3029Tyr)
c.1553T>A (p.Phe518Tyr)
n.1264T>A
c.9145T>A (n.9145T>A)
c.2015T>A
c.20T>A (p.Phe7Tyr)
c.94T>A
c.9041T>A (p.Phe3014Tyr)
 dbSNP
13g.32380026T>CCA387757847BRCA2c.9137T>C (p.Phe3046Ser)
c.*504T>C (n.*504T>C)
c.8768T>C (p.Phe2923Ser)
c.*699T>C (n.*699T>C)
c.9086T>C (p.Phe3029Ser)
c.1553T>C (p.Phe518Ser)
n.1264T>C
c.9145T>C (n.9145T>C)
c.2015T>C
c.20T>C (p.Phe7Ser)
c.94T>C
c.9041T>C (p.Phe3014Ser)
13g.32380026T>GCA387757848BRCA2c.9137T>G (p.Phe3046Cys)
c.*504T>G (n.*504T>G)
c.8768T>G (p.Phe2923Cys)
c.*699T>G (n.*699T>G)
c.9086T>G (p.Phe3029Cys)
c.1553T>G (p.Phe518Cys)
n.1264T>G
c.9145T>G (n.9145T>G)
c.2015T>G
c.20T>G (p.Phe7Cys)
c.94T>G
c.9041T>G (p.Phe3014Cys)
 dbSNP gnomAD v2 gnomAD v4
13g.32380026T=CA2082840052BRCA2c.9137T= (p.Phe3046=)
c.*504T= (n.*504T=)
c.8768T= (p.Phe2923=)
c.*699T= (n.*699T=)
c.9086T= (p.Phe3029=)
c.1553T= (p.Phe518=)
n.1264T=
c.9145T= (n.9145T=)
c.2015T=
c.20T= (p.Phe7=)
c.94T=
c.9041T= (p.Phe3014=)
13g.32380027T>ACA387757849BRCA2c.9138T>A (p.Phe3046Leu)
c.*505T>A (n.*505T>A)
c.8769T>A (p.Phe2923Leu)
c.*700T>A (n.*700T>A)
c.9087T>A (p.Phe3029Leu)
c.1554T>A (p.Phe518Leu)
n.1265T>A
c.9146T>A (n.9146T>A)
c.2016T>A
c.21T>A (p.Phe7Leu)
c.95T>A
c.9042T>A (p.Phe3014Leu)
 dbSNP
13g.32380027T>CCA483262037BRCA2c.9138T>C (p.Phe3046=)
c.*505T>C (n.*505T>C)
c.8769T>C (p.Phe2923=)
c.*700T>C (n.*700T>C)
c.9087T>C (p.Phe3029=)
c.1554T>C (p.Phe518=)
n.1265T>C
c.9146T>C (n.9146T>C)
c.2016T>C
c.21T>C (p.Phe7=)
c.95T>C
c.9042T>C (p.Phe3014=)
13g.32380027T>GCA387757850BRCA2c.9138T>G (p.Phe3046Leu)
c.*505T>G (n.*505T>G)
c.8769T>G (p.Phe2923Leu)
c.*700T>G (n.*700T>G)
c.9087T>G (p.Phe3029Leu)
c.1554T>G (p.Phe518Leu)
n.1265T>G
c.9146T>G (n.9146T>G)
c.2016T>G
c.21T>G (p.Phe7Leu)
c.95T>G
c.9042T>G (p.Phe3014Leu)
13g.32380028C>ACA387757851BRCA2c.9139C>A (p.Gln3047Lys)
c.*506C>A (n.*506C>A)
c.8770C>A (p.Gln2924Lys)
c.*701C>A (n.*701C>A)
c.9088C>A (p.Gln3030Lys)
c.1555C>A (p.Gln519Lys)
n.1266C>A
c.9147C>A (n.9147C>A)
c.2017C>A
c.22C>A (p.Gln8Lys)
c.96C>A
c.9043C>A (p.Gln3015Lys)
 dbSNP
13g.32380028C=CA2082840064BRCA2c.9139C= (p.Gln3047=)
c.*506C= (n.*506C=)
c.8770C= (p.Gln2924=)
c.*701C= (n.*701C=)
c.9088C= (p.Gln3030=)
c.1555C= (p.Gln519=)
n.1266C=
c.9147C= (n.9147C=)
c.2017C=
c.22C= (p.Gln8=)
c.96C=
c.9043C= (p.Gln3015=)
13g.32380028C>GCA387757853BRCA2c.9139C>G (p.Gln3047Glu)
c.*506C>G (n.*506C>G)
c.8770C>G (p.Gln2924Glu)
c.*701C>G (n.*701C>G)
c.9088C>G (p.Gln3030Glu)
c.1555C>G (p.Gln519Glu)
n.1266C>G
c.9147C>G (n.9147C>G)
c.2017C>G
c.22C>G (p.Gln8Glu)
c.96C>G
c.9043C>G (p.Gln3015Glu)
 dbSNP
13g.32380028C>TCA10589550BRCA2c.9139C>T (p.Gln3047Ter)
c.*506C>T (n.*506C>T)
c.8770C>T (p.Gln2924Ter)
c.*701C>T (n.*701C>T)
c.9088C>T (p.Gln3030Ter)
c.1555C>T (p.Gln519Ter)
n.1266C>T
c.9147C>T (n.9147C>T)
c.2017C>T
c.22C>T (p.Gln8Ter)
c.96C>T
c.9043C>T (p.Gln3015Ter)
 ClinVar dbSNP
13g.32380029A>CCA387757854BRCA2c.9140A>C (p.Gln3047Pro)
c.*507A>C (n.*507A>C)
c.8771A>C (p.Gln2924Pro)
c.*702A>C (n.*702A>C)
c.9089A>C (p.Gln3030Pro)
c.1556A>C (p.Gln519Pro)
n.1267A>C
c.9148A>C (n.9148A>C)
c.2018A>C
c.23A>C (p.Gln8Pro)
c.97A>C
c.9044A>C (p.Gln3015Pro)
13g.32380029A>GCA387757856BRCA2c.9140A>G (p.Gln3047Arg)
c.*507A>G (n.*507A>G)
c.8771A>G (p.Gln2924Arg)
c.*702A>G (n.*702A>G)
c.9089A>G (p.Gln3030Arg)
c.1556A>G (p.Gln519Arg)
n.1267A>G
c.9148A>G (n.9148A>G)
c.2018A>G
c.23A>G (p.Gln8Arg)
c.97A>G
c.9044A>G (p.Gln3015Arg)
 ClinVar dbSNP
13g.32380029A>TCA387757859BRCA2c.9140A>T (p.Gln3047Leu)
c.*507A>T (n.*507A>T)
c.8771A>T (p.Gln2924Leu)
c.*702A>T (n.*702A>T)
c.9089A>T (p.Gln3030Leu)
c.1556A>T (p.Gln519Leu)
n.1267A>T
c.9148A>T (n.9148A>T)
c.2018A>T
c.23A>T (p.Gln8Leu)
c.97A>T
c.9044A>T (p.Gln3015Leu)
 dbSNP
13g.32380030G>ACA483262039BRCA2c.9141G>A (p.Gln3047=)
c.*508G>A (n.*508G>A)
c.8772G>A (p.Gln2924=)
c.*703G>A (n.*703G>A)
c.9090G>A (p.Gln3030=)
c.1557G>A (p.Gln519=)
n.1268G>A
c.9149G>A (n.9149G>A)
c.2019G>A
c.24G>A (p.Gln8=)
c.98G>A
c.9045G>A (p.Gln3015=)
 dbSNP
13g.32380030G>CCA387757863BRCA2c.9141G>C (p.Gln3047His)
c.*508G>C (n.*508G>C)
c.8772G>C (p.Gln2924His)
c.*703G>C (n.*703G>C)
c.9090G>C (p.Gln3030His)
c.1557G>C (p.Gln519His)
n.1268G>C
c.9149G>C (n.9149G>C)
c.2019G>C
c.24G>C (p.Gln8His)
c.98G>C
c.9045G>C (p.Gln3015His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.32380030G=CA2082840080BRCA2c.9141G= (p.Gln3047=)
c.*508G= (n.*508G=)
c.8772G= (p.Gln2924=)
c.*703G= (n.*703G=)
c.9090G= (p.Gln3030=)
c.1557G= (p.Gln519=)
n.1268G=
c.9149G= (n.9149G=)
c.2019G=
c.24G= (p.Gln8=)
c.98G=
c.9045G= (p.Gln3015=)
13g.32380030G>TCA387757861BRCA2c.9141G>T (p.Gln3047His)
c.*508G>T (n.*508G>T)
c.8772G>T (p.Gln2924His)
c.*703G>T (n.*703G>T)
c.9090G>T (p.Gln3030His)
c.1557G>T (p.Gln519His)
n.1268G>T
c.9149G>T (n.9149G>T)
c.2019G>T
c.24G>T (p.Gln8His)
c.98G>T
c.9045G>T (p.Gln3015His)
 ClinVar dbSNP
13g.32380031A=CA2082840093BRCA2c.9142A= (p.Ile3048=)
c.*509A= (n.*509A=)
c.8773A= (p.Ile2925=)
c.*704A= (n.*704A=)
c.9091A= (p.Ile3031=)
c.1558A= (p.Ile520=)
n.1269A=
c.9150A= (n.9150A=)
c.2020A=
c.25A= (p.Ile9=)
c.99A=
c.9046A= (p.Ile3016=)
13g.32380031A>CCA387757866BRCA2c.9142A>C (p.Ile3048Leu)
c.*509A>C (n.*509A>C)
c.8773A>C (p.Ile2925Leu)
c.*704A>C (n.*704A>C)
c.9091A>C (p.Ile3031Leu)
c.1558A>C (p.Ile520Leu)
n.1269A>C
c.9150A>C (n.9150A>C)
c.2020A>C
c.25A>C (p.Ile9Leu)
c.99A>C
c.9046A>C (p.Ile3016Leu)
13g.32380031A>GCA387757868BRCA2c.9142A>G (p.Ile3048Val)
c.*509A>G (n.*509A>G)
c.8773A>G (p.Ile2925Val)
c.*704A>G (n.*704A>G)
c.9091A>G (p.Ile3031Val)
c.1558A>G (p.Ile520Val)
n.1269A>G
c.9150A>G (n.9150A>G)
c.2020A>G
c.25A>G (p.Ile9Val)
c.99A>G
c.9046A>G (p.Ile3016Val)
 dbSNP
13g.32380031A>TCA387757867BRCA2c.9142A>T (p.Ile3048Phe)
c.*509A>T (n.*509A>T)
c.8773A>T (p.Ile2925Phe)
c.*704A>T (n.*704A>T)
c.9091A>T (p.Ile3031Phe)
c.1558A>T (p.Ile520Phe)
n.1269A>T
c.9150A>T (n.9150A>T)
c.2020A>T
c.25A>T (p.Ile9Phe)
c.99A>T
c.9046A>T (p.Ile3016Phe)
 ClinVar dbSNP
13g.32380032T>ACA387757872BRCA2c.9143T>A (p.Ile3048Asn)
c.*510T>A (n.*510T>A)
c.8774T>A (p.Ile2925Asn)
c.*705T>A (n.*705T>A)
c.9092T>A (p.Ile3031Asn)
c.1559T>A (p.Ile520Asn)
n.1270T>A
c.9151T>A (n.9151T>A)
c.2021T>A
c.26T>A (p.Ile9Asn)
c.100T>A
c.9047T>A (p.Ile3016Asn)
 dbSNP
13g.32380032T>CCA387757875BRCA2c.9143T>C (p.Ile3048Thr)
c.*510T>C (n.*510T>C)
c.8774T>C (p.Ile2925Thr)
c.*705T>C (n.*705T>C)
c.9092T>C (p.Ile3031Thr)
c.1559T>C (p.Ile520Thr)
n.1270T>C
c.9151T>C (n.9151T>C)
c.2021T>C
c.26T>C (p.Ile9Thr)
c.100T>C
c.9047T>C (p.Ile3016Thr)
 ClinVar dbSNP
13g.32380032T>GCA387757874BRCA2c.9143T>G (p.Ile3048Ser)
c.*510T>G (n.*510T>G)
c.8774T>G (p.Ile2925Ser)
c.*705T>G (n.*705T>G)
c.9092T>G (p.Ile3031Ser)
c.1559T>G (p.Ile520Ser)
n.1270T>G
c.9151T>G (n.9151T>G)
c.2021T>G
c.26T>G (p.Ile9Ser)
c.100T>G
c.9047T>G (p.Ile3016Ser)
13g.32380032T=CA2082840103BRCA2c.9143T= (p.Ile3048=)
c.*510T= (n.*510T=)
c.8774T= (p.Ile2925=)
c.*705T= (n.*705T=)
c.9092T= (p.Ile3031=)
c.1559T= (p.Ile520=)
n.1270T=
c.9151T= (n.9151T=)
c.2021T=
c.26T= (p.Ile9=)
c.100T=
c.9047T= (p.Ile3016=)
13g.32380034dupCA1139663163BRCA2c.9145dup (p.Tyr3049LeufsTer23)
c.*512dup (n.*512dup)
c.8776dup (p.Tyr2926LeufsTer23)
c.*707dup (n.*707dup)
c.9094dup (p.Tyr3032LeufsTer23)
c.1561dup (p.Tyr521LeufsTer23)
n.1272dup
c.9153dup (n.9153dup)
c.2023dup
c.28dup (p.Tyr10LeufsTer23)
c.102dup
c.9049dup (p.Tyr3017LeufsTer23)
 ClinVar dbSNP
13g.32380033T>ACA483262040BRCA2c.9144T>A (p.Ile3048=)
c.*511T>A (n.*511T>A)
c.8775T>A (p.Ile2925=)
c.*706T>A (n.*706T>A)
c.9093T>A (p.Ile3031=)
c.1560T>A (p.Ile520=)
n.1271T>A
c.9152T>A (n.9152T>A)
c.2022T>A
c.27T>A (p.Ile9=)
c.101T>A
c.9048T>A (p.Ile3016=)
 dbSNP
13g.32380033T>CCA483262042BRCA2c.9144T>C (p.Ile3048=)
c.*511T>C (n.*511T>C)
c.8775T>C (p.Ile2925=)
c.*706T>C (n.*706T>C)
c.9093T>C (p.Ile3031=)
c.1560T>C (p.Ile520=)
n.1271T>C
c.9152T>C (n.9152T>C)
c.2022T>C
c.27T>C (p.Ile9=)
c.101T>C
c.9048T>C (p.Ile3016=)
13g.32380033T>GCA387757878BRCA2c.9144T>G (p.Ile3048Met)
c.*511T>G (n.*511T>G)
c.8775T>G (p.Ile2925Met)
c.*706T>G (n.*706T>G)
c.9093T>G (p.Ile3031Met)
c.1560T>G (p.Ile520Met)
n.1271T>G
c.9152T>G (n.9152T>G)
c.2022T>G
c.27T>G (p.Ile9Met)
c.101T>G
c.9048T>G (p.Ile3016Met)
 ClinVar
13g.32380034T>ACA6941346BRCA2c.9145T>A (p.Tyr3049Asn)
c.*512T>A (n.*512T>A)
c.8776T>A (p.Tyr2926Asn)
c.*707T>A (n.*707T>A)
c.9094T>A (p.Tyr3032Asn)
c.1561T>A (p.Tyr521Asn)
n.1272T>A
c.9153T>A (n.9153T>A)
c.2023T>A
c.28T>A (p.Tyr10Asn)
c.102T>A
c.9049T>A (p.Tyr3017Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32380034T>CCA387757879BRCA2c.9145T>C (p.Tyr3049His)
c.*512T>C (n.*512T>C)
c.8776T>C (p.Tyr2926His)
c.*707T>C (n.*707T>C)
c.9094T>C (p.Tyr3032His)
c.1561T>C (p.Tyr521His)
n.1272T>C
c.9153T>C (n.9153T>C)
c.2023T>C
c.28T>C (p.Tyr10His)
c.102T>C
c.9049T>C (p.Tyr3017His)
13g.32380034T>GCA387757883BRCA2c.9145T>G (p.Tyr3049Asp)
c.*512T>G (n.*512T>G)
c.8776T>G (p.Tyr2926Asp)
c.*707T>G (n.*707T>G)
c.9094T>G (p.Tyr3032Asp)
c.1561T>G (p.Tyr521Asp)
n.1272T>G
c.9153T>G (n.9153T>G)
c.2023T>G
c.28T>G (p.Tyr10Asp)
c.102T>G
c.9049T>G (p.Tyr3017Asp)
 ClinVar dbSNP
13g.32380034T=CA2082840107BRCA2c.9145T= (p.Tyr3049=)
c.*512T= (n.*512T=)
c.8776T= (p.Tyr2926=)
c.*707T= (n.*707T=)
c.9094T= (p.Tyr3032=)
c.1561T= (p.Tyr521=)
n.1272T=
c.9153T= (n.9153T=)
c.2023T=
c.28T= (p.Tyr10=)
c.102T=
c.9049T= (p.Tyr3017=)
13g.32380035A=CA2082840116BRCA2c.9146A= (p.Tyr3049=)
c.*513A= (n.*513A=)
c.8777A= (p.Tyr2926=)
c.*708A= (n.*708A=)
c.9095A= (p.Tyr3032=)
c.1562A= (p.Tyr521=)
n.1273A=
c.9154A= (n.9154A=)
c.2024A=
c.29A= (p.Tyr10=)
c.103A=
c.9050A= (p.Tyr3017=)
13g.32380035A>CCA6941347BRCA2c.9146A>C (p.Tyr3049Ser)
c.*513A>C (n.*513A>C)
c.8777A>C (p.Tyr2926Ser)
c.*708A>C (n.*708A>C)
c.9095A>C (p.Tyr3032Ser)
c.1562A>C (p.Tyr521Ser)
n.1273A>C
c.9154A>C (n.9154A>C)
c.2024A>C
c.29A>C (p.Tyr10Ser)
c.103A>C
c.9050A>C (p.Tyr3017Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.32380035A>GCA026003BRCA2c.9146A>G (p.Tyr3049Cys)
c.*513A>G (n.*513A>G)
c.8777A>G (p.Tyr2926Cys)
c.*708A>G (n.*708A>G)
c.9095A>G (p.Tyr3032Cys)
c.1562A>G (p.Tyr521Cys)
n.1273A>G
c.9154A>G (n.9154A>G)
c.2024A>G
c.29A>G (p.Tyr10Cys)
c.103A>G
c.9050A>G (p.Tyr3017Cys)
 ClinVar dbSNP gnomAD v4
13g.32380035A>TCA387757885BRCA2c.9146A>T (p.Tyr3049Phe)
c.*513A>T (n.*513A>T)
c.8777A>T (p.Tyr2926Phe)
c.*708A>T (n.*708A>T)
c.9095A>T (p.Tyr3032Phe)
c.1562A>T (p.Tyr521Phe)
n.1273A>T
c.9154A>T (n.9154A>T)
c.2024A>T
c.29A>T (p.Tyr10Phe)
c.103A>T
c.9050A>T (p.Tyr3017Phe)
13g.32380036C>ACA10589551BRCA2c.9147C>A (p.Tyr3049Ter)
c.*514C>A (n.*514C>A)
c.8778C>A (p.Tyr2926Ter)
c.*709C>A (n.*709C>A)
c.9096C>A (p.Tyr3032Ter)
c.1563C>A (p.Tyr521Ter)
n.1274C>A
c.9155C>A (n.9155C>A)
c.2025C>A
c.30C>A (p.Tyr10Ter)
c.104C>A
c.9051C>A (p.Tyr3017Ter)
 ClinVar dbSNP
13g.32380036C=CA2082840135BRCA2c.9147C= (p.Tyr3049=)
c.*514C= (n.*514C=)
c.8778C= (p.Tyr2926=)
c.*709C= (n.*709C=)
c.9096C= (p.Tyr3032=)
c.1563C= (p.Tyr521=)
n.1274C=
c.9155C= (n.9155C=)
c.2025C=
c.30C= (p.Tyr10=)
c.104C=
c.9051C= (p.Tyr3017=)
13g.32380036C>GCA387757888BRCA2c.9147C>G (p.Tyr3049Ter)
c.*514C>G (n.*514C>G)
c.8778C>G (p.Tyr2926Ter)
c.*709C>G (n.*709C>G)
c.9096C>G (p.Tyr3032Ter)
c.1563C>G (p.Tyr521Ter)
n.1274C>G
c.9155C>G (n.9155C>G)
c.2025C>G
c.30C>G (p.Tyr10Ter)
c.104C>G
c.9051C>G (p.Tyr3017Ter)
 ClinVar dbSNP
13g.32380036C>TCA483262043BRCA2c.9147C>T (p.Tyr3049=)
c.*514C>T (n.*514C>T)
c.8778C>T (p.Tyr2926=)
c.*709C>T (n.*709C>T)
c.9096C>T (p.Tyr3032=)
c.1563C>T (p.Tyr521=)
n.1274C>T
c.9155C>T (n.9155C>T)
c.2025C>T
c.30C>T (p.Tyr10=)
c.104C>T
c.9051C>T (p.Tyr3017=)
 dbSNP
13g.32380037C>ACA387757890BRCA2c.9148C>A (p.Gln3050Lys)
c.*515C>A (n.*515C>A)
c.8779C>A (p.Gln2927Lys)
c.*710C>A (n.*710C>A)
c.9097C>A (p.Gln3033Lys)
c.1564C>A (p.Gln522Lys)
n.1275C>A
c.9156C>A (n.9156C>A)
c.2026C>A
c.31C>A (p.Gln11Lys)
c.105C>A
c.9052C>A (p.Gln3018Lys)
 dbSNP
13g.32380037C=CA2082840139BRCA2c.9148C= (p.Gln3050=)
c.*515C= (n.*515C=)
c.8779C= (p.Gln2927=)
c.*710C= (n.*710C=)
c.9097C= (p.Gln3033=)
c.1564C= (p.Gln522=)
n.1275C=
c.9156C= (n.9156C=)
c.2026C=
c.31C= (p.Gln11=)
c.105C=
c.9052C= (p.Gln3018=)
13g.32380037C>GCA387757892BRCA2c.9148C>G (p.Gln3050Glu)
c.*515C>G (n.*515C>G)
c.8779C>G (p.Gln2927Glu)
c.*710C>G (n.*710C>G)
c.9097C>G (p.Gln3033Glu)
c.1564C>G (p.Gln522Glu)
n.1275C>G
c.9156C>G (n.9156C>G)
c.2026C>G
c.31C>G (p.Gln11Glu)
c.105C>G
c.9052C>G (p.Gln3018Glu)
 dbSNP
13g.32380037C>TCA026004BRCA2c.9148C>T (p.Gln3050Ter)
c.*515C>T (n.*515C>T)
c.8779C>T (p.Gln2927Ter)
c.*710C>T (n.*710C>T)
c.9097C>T (p.Gln3033Ter)
c.1564C>T (p.Gln522Ter)
n.1275C>T
c.9156C>T (n.9156C>T)
c.2026C>T
c.31C>T (p.Gln11Ter)
c.105C>T
c.9052C>T (p.Gln3018Ter)
 ClinVar dbSNP
13g.32380038A=CA2082840164BRCA2c.9149A= (p.Gln3050=)
c.*516A= (n.*516A=)
c.8780A= (p.Gln2927=)
c.*711A= (n.*711A=)
c.9098A= (p.Gln3033=)
c.1565A= (p.Gln522=)
n.1276A=
c.9157A= (n.9157A=)
c.2027A=
c.32A= (p.Gln11=)
c.106A=
c.9053A= (p.Gln3018=)
13g.32380038A>CCA387757894BRCA2c.9149A>C (p.Gln3050Pro)
c.*516A>C (n.*516A>C)
c.8780A>C (p.Gln2927Pro)
c.*711A>C (n.*711A>C)
c.9098A>C (p.Gln3033Pro)
c.1565A>C (p.Gln522Pro)
n.1276A>C
c.9157A>C (n.9157A>C)
c.2027A>C
c.32A>C (p.Gln11Pro)
c.106A>C
c.9053A>C (p.Gln3018Pro)
13g.32380038A>GCA387757895BRCA2c.9149A>G (p.Gln3050Arg)
c.*516A>G (n.*516A>G)
c.8780A>G (p.Gln2927Arg)
c.*711A>G (n.*711A>G)
c.9098A>G (p.Gln3033Arg)
c.1565A>G (p.Gln522Arg)
n.1276A>G
c.9157A>G (n.9157A>G)
c.2027A>G
c.32A>G (p.Gln11Arg)
c.106A>G
c.9053A>G (p.Gln3018Arg)
 dbSNP gnomAD v4
13g.32380038A>TCA387757897BRCA2c.9149A>T (p.Gln3050Leu)
c.*516A>T (n.*516A>T)
c.8780A>T (p.Gln2927Leu)
c.*711A>T (n.*711A>T)
c.9098A>T (p.Gln3033Leu)
c.1565A>T (p.Gln522Leu)
n.1276A>T
c.9157A>T (n.9157A>T)
c.2027A>T
c.32A>T (p.Gln11Leu)
c.106A>T
c.9053A>T (p.Gln3018Leu)
 ClinVar dbSNP
13g.32380039G>ACA6941348BRCA2c.9150G>A (p.Gln3050=)
c.*517G>A (n.*517G>A)
c.8781G>A (p.Gln2927=)
c.*712G>A (n.*712G>A)
c.9099G>A (p.Gln3033=)
c.1566G>A (p.Gln522=)
n.1277G>A
c.9158G>A (n.9158G>A)
c.2028G>A
c.33G>A (p.Gln11=)
c.107G>A
c.9054G>A (p.Gln3018=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32380039G>CCA387757899BRCA2c.9150G>C (p.Gln3050His)
c.*517G>C (n.*517G>C)
c.8781G>C (p.Gln2927His)
c.*712G>C (n.*712G>C)
c.9099G>C (p.Gln3033His)
c.1566G>C (p.Gln522His)
n.1277G>C
c.9158G>C (n.9158G>C)
c.2028G>C
c.33G>C (p.Gln11His)
c.107G>C
c.9054G>C (p.Gln3018His)
13g.32380039G=CA2082840191BRCA2c.9150G= (p.Gln3050=)
c.*517G= (n.*517G=)
c.8781G= (p.Gln2927=)
c.*712G= (n.*712G=)
c.9099G= (p.Gln3033=)
c.1566G= (p.Gln522=)
n.1277G=
c.9158G= (n.9158G=)
c.2028G=
c.33G= (p.Gln11=)
c.107G=
c.9054G= (p.Gln3018=)
13g.32380039G>TCA387757901BRCA2c.9150G>T (p.Gln3050His)
c.*517G>T (n.*517G>T)
c.8781G>T (p.Gln2927His)
c.*712G>T (n.*712G>T)
c.9099G>T (p.Gln3033His)
c.1566G>T (p.Gln522His)
n.1277G>T
c.9158G>T (n.9158G>T)
c.2028G>T
c.33G>T (p.Gln11His)
c.107G>T
c.9054G>T (p.Gln3018His)
13g.32380039_32380040delinsGCCA2082840184BRCA2c.9150_9151delinsGC (p.Gln3050=)
c.*517_*518delinsGC (n.*517_*518delinsGC)
c.8781_8782delinsGC (p.Gln2927=)
c.*712_*713delinsGC (n.*712_*713delinsGC)
c.9099_9100delinsGC (p.Gln3033=)
c.1566_1567delinsGC (p.Gln522=)
n.1277_1278delinsGC
c.9158_9159delinsGC (n.9158_9159delinsGC)
c.2028_2029delinsGC
c.33_34delinsGC (p.Gln11=)
c.107_108delinsGC
c.9054_9055delinsGC (p.Gln3018=)
13g.32380040C>ACA387757909BRCA2c.9151C>A (p.Pro3051Thr)
c.*518C>A (n.*518C>A)
c.8782C>A (p.Pro2928Thr)
c.*713C>A (n.*713C>A)
c.9100C>A (p.Pro3034Thr)
c.1567C>A (p.Pro523Thr)
n.1278C>A
c.9159C>A (n.9159C>A)
c.2029C>A
c.34C>A (p.Pro12Thr)
c.108C>A
c.9055C>A (p.Pro3019Thr)
 ClinVar dbSNP
13g.32380040C=CA2082840211BRCA2c.9151C= (p.Pro3051=)
c.*518C= (n.*518C=)
c.8782C= (p.Pro2928=)
c.*713C= (n.*713C=)
c.9100C= (p.Pro3034=)
c.1567C= (p.Pro523=)
n.1278C=
c.9159C= (n.9159C=)
c.2029C=
c.34C= (p.Pro12=)
c.108C=
c.9055C= (p.Pro3019=)
13g.32380040C>GCA387757904BRCA2c.9151C>G (p.Pro3051Ala)
c.*518C>G (n.*518C>G)
c.8782C>G (p.Pro2928Ala)
c.*713C>G (n.*713C>G)
c.9100C>G (p.Pro3034Ala)
c.1567C>G (p.Pro523Ala)
n.1278C>G
c.9159C>G (n.9159C>G)
c.2029C>G
c.34C>G (p.Pro12Ala)
c.108C>G
c.9055C>G (p.Pro3019Ala)
 dbSNP gnomAD v4
13g.32380040C>TCA387757908BRCA2c.9151C>T (p.Pro3051Ser)
c.*518C>T (n.*518C>T)
c.8782C>T (p.Pro2928Ser)
c.*713C>T (n.*713C>T)
c.9100C>T (p.Pro3034Ser)
c.1567C>T (p.Pro523Ser)
n.1278C>T
c.9159C>T (n.9159C>T)
c.2029C>T
c.34C>T (p.Pro12Ser)
c.108C>T
c.9055C>T (p.Pro3019Ser)
 dbSNP
13g.32380041delCA026005BRCA2c.9152del (p.Pro3051HisfsTer11)
c.*519del (n.*519del)
c.8783del (p.Pro2928HisfsTer11)
c.*714del (n.*714del)
c.9101del (p.Pro3034HisfsTer11)
c.1568del (p.Pro523HisfsTer11)
n.1279del
c.9160del (n.9160del)
c.2030del
c.35del (p.Pro12HisfsTer11)
c.109del
c.9056del (p.Pro3019HisfsTer11)
 ClinVar dbSNP
13g.32380041C>ACA387757912BRCA2c.9152C>A (p.Pro3051Gln)
c.*519C>A (n.*519C>A)
c.8783C>A (p.Pro2928Gln)
c.*714C>A (n.*714C>A)
c.9101C>A (p.Pro3034Gln)
c.1568C>A (p.Pro523Gln)
n.1279C>A
c.9160C>A (n.9160C>A)
c.2030C>A
c.35C>A (p.Pro12Gln)
c.109C>A
c.9056C>A (p.Pro3019Gln)
 ClinVar dbSNP
13g.32380041C=CA2082840220BRCA2c.9152C= (p.Pro3051=)
c.*519C= (n.*519C=)
c.8783C= (p.Pro2928=)
c.*714C= (n.*714C=)
c.9101C= (p.Pro3034=)
c.1568C= (p.Pro523=)
n.1279C=
c.9160C= (n.9160C=)
c.2030C=
c.35C= (p.Pro12=)
c.109C=
c.9056C= (p.Pro3019=)
13g.32380041C>GCA387757915BRCA2c.9152C>G (p.Pro3051Arg)
c.*519C>G (n.*519C>G)
c.8783C>G (p.Pro2928Arg)
c.*714C>G (n.*714C>G)
c.9101C>G (p.Pro3034Arg)
c.1568C>G (p.Pro523Arg)
n.1279C>G
c.9160C>G (n.9160C>G)
c.2030C>G
c.35C>G (p.Pro12Arg)
c.109C>G
c.9056C>G (p.Pro3019Arg)
 dbSNP
13g.32380041C>TCA387757922BRCA2c.9152C>T (p.Pro3051Leu)
c.*519C>T (n.*519C>T)
c.8783C>T (p.Pro2928Leu)
c.*714C>T (n.*714C>T)
c.9101C>T (p.Pro3034Leu)
c.1568C>T (p.Pro523Leu)
n.1279C>T
c.9160C>T (n.9160C>T)
c.2030C>T
c.35C>T (p.Pro12Leu)
c.109C>T
c.9056C>T (p.Pro3019Leu)
13g.32380042A=CA2082840276BRCA2c.9153A= (p.Pro3051=)
c.*520A= (n.*520A=)
c.8784A= (p.Pro2928=)
c.*715A= (n.*715A=)
c.9102A= (p.Pro3034=)
c.1569A= (p.Pro523=)
n.1280A=
c.9161A= (n.9161A=)
c.2031A=
c.36A= (p.Pro12=)
c.110A=
c.9057A= (p.Pro3019=)
13g.32380042A>CCA483262050BRCA2c.9153A>C (p.Pro3051=)
c.*520A>C (n.*520A>C)
c.8784A>C (p.Pro2928=)
c.*715A>C (n.*715A>C)
c.9102A>C (p.Pro3034=)
c.1569A>C (p.Pro523=)
n.1280A>C
c.9161A>C (n.9161A>C)
c.2031A>C
c.36A>C (p.Pro12=)
c.110A>C
c.9057A>C (p.Pro3019=)
 ClinVar dbSNP
13g.32380042A>GCA6941349BRCA2c.9153A>G (p.Pro3051=)
c.*520A>G (n.*520A>G)
c.8784A>G (p.Pro2928=)
c.*715A>G (n.*715A>G)
c.9102A>G (p.Pro3034=)
c.1569A>G (p.Pro523=)
n.1280A>G
c.9161A>G (n.9161A>G)
c.2031A>G
c.36A>G (p.Pro12=)
c.110A>G
c.9057A>G (p.Pro3019=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32380042A>TCA483262051BRCA2c.9153A>T (p.Pro3051=)
c.*520A>T (n.*520A>T)
c.8784A>T (p.Pro2928=)
c.*715A>T (n.*715A>T)
c.9102A>T (p.Pro3034=)
c.1569A>T (p.Pro523=)
n.1280A>T
c.9161A>T (n.9161A>T)
c.2031A>T
c.36A>T (p.Pro12=)
c.110A>T
c.9057A>T (p.Pro3019=)
 dbSNP
13g.32380043C>ACA483262052BRCA2c.9154C>A (p.Arg3052=)
c.*521C>A (n.*521C>A)
c.8785C>A (p.Arg2929=)
c.*716C>A (n.*716C>A)
c.9103C>A (p.Arg3035=)
c.1570C>A (p.Arg524=)
n.1281C>A
c.9162C>A (n.9162C>A)
c.2032C>A
c.37C>A (p.Arg13=)
c.111C>A
c.9058C>A (p.Arg3020=)
 dbSNP
13g.32380043C=CA2082840300BRCA2c.9154C= (p.Arg3052=)
c.*521C= (n.*521C=)
c.8785C= (p.Arg2929=)
c.*716C= (n.*716C=)
c.9103C= (p.Arg3035=)
c.1570C= (p.Arg524=)
n.1281C=
c.9162C= (n.9162C=)
c.2032C=
c.37C= (p.Arg13=)
c.111C=
c.9058C= (p.Arg3020=)
13g.32380043C>GCA387757925BRCA2c.9154C>G (p.Arg3052Gly)
c.*521C>G (n.*521C>G)
c.8785C>G (p.Arg2929Gly)
c.*716C>G (n.*716C>G)
c.9103C>G (p.Arg3035Gly)
c.1570C>G (p.Arg524Gly)
n.1281C>G
c.9162C>G (n.9162C>G)
c.2032C>G
c.37C>G (p.Arg13Gly)
c.111C>G
c.9058C>G (p.Arg3020Gly)
 ClinVar dbSNP
13g.32380043C>TCA026006BRCA2c.9154C>T (p.Arg3052Trp)
c.*521C>T (n.*521C>T)
c.8785C>T (p.Arg2929Trp)
c.*716C>T (n.*716C>T)
c.9103C>T (p.Arg3035Trp)
c.1570C>T (p.Arg524Trp)
n.1281C>T
c.9162C>T (n.9162C>T)
c.2032C>T
c.37C>T (p.Arg13Trp)
c.111C>T
c.9058C>T (p.Arg3020Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32380043_32380044delinsCGCA2082840287BRCA2c.9154_9155delinsCG (p.Arg3052=)
c.*521_*522delinsCG (n.*521_*522delinsCG)
c.8785_8786delinsCG (p.Arg2929=)
c.*716_*717delinsCG (n.*716_*717delinsCG)
c.9103_9104delinsCG (p.Arg3035=)
c.1570_1571delinsCG (p.Arg524=)
n.1281_1282delinsCG
c.9162_9163delinsCG (n.9162_9163delinsCG)
c.2032_2033delinsCG
c.37_38delinsCG (p.Arg13=)
c.111_112delinsCG
c.9058_9059delinsCG (p.Arg3020=)
13g.32380044G>ACA026007BRCA2c.9155G>A (p.Arg3052Gln)
c.*522G>A (n.*522G>A)
c.8786G>A (p.Arg2929Gln)
c.*717G>A (n.*717G>A)
c.9104G>A (p.Arg3035Gln)
c.1571G>A (p.Arg524Gln)
n.1282G>A
c.9163G>A (n.9163G>A)
c.2033G>A
c.38G>A (p.Arg13Gln)
c.112G>A
c.9059G>A (p.Arg3020Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.32380044G>CCA387757932BRCA2c.9155G>C (p.Arg3052Pro)
c.*522G>C (n.*522G>C)
c.8786G>C (p.Arg2929Pro)
c.*717G>C (n.*717G>C)
c.9104G>C (p.Arg3035Pro)
c.1571G>C (p.Arg524Pro)
n.1282G>C
c.9163G>C (n.9163G>C)
c.2033G>C
c.38G>C (p.Arg13Pro)
c.112G>C
c.9059G>C (p.Arg3020Pro)
 dbSNP
13g.32380044G=CA2082840306BRCA2c.9155G= (p.Arg3052=)
c.*522G= (n.*522G=)
c.8786G= (p.Arg2929=)
c.*717G= (n.*717G=)
c.9104G= (p.Arg3035=)
c.1571G= (p.Arg524=)
n.1282G=
c.9163G= (n.9163G=)
c.2033G=
c.38G= (p.Arg13=)
c.112G=
c.9059G= (p.Arg3020=)
13g.32380044G>TCA387757934BRCA2c.9155G>T (p.Arg3052Leu)
c.*522G>T (n.*522G>T)
c.8786G>T (p.Arg2929Leu)
c.*717G>T (n.*717G>T)
c.9104G>T (p.Arg3035Leu)
c.1571G>T (p.Arg524Leu)
n.1282G>T
c.9163G>T (n.9163G>T)
c.2033G>T
c.38G>T (p.Arg13Leu)
c.112G>T
c.9059G>T (p.Arg3020Leu)
 ClinVar dbSNP
13g.32380046delCA026008BRCA2c.9157del (p.Glu3053SerfsTer9)
c.*524del (n.*524del)
c.8788del (p.Glu2930SerfsTer9)
c.*719del (n.*719del)
c.9106del (p.Glu3036SerfsTer9)
c.1573del (p.Glu525SerfsTer9)
n.1284del
c.9165del (n.9165del)
c.2035del
c.40del (p.Glu14SerfsTer9)
c.114del
c.9061del (p.Glu3021SerfsTer9)
 ClinVar dbSNP gnomAD v4
13g.32380045G>ACA483262054BRCA2c.9156G>A (p.Arg3052=)
c.*523G>A (n.*523G>A)
c.8787G>A (p.Arg2929=)
c.*718G>A (n.*718G>A)
c.9105G>A (p.Arg3035=)
c.1572G>A (p.Arg524=)
n.1283G>A
c.9164G>A (n.9164G>A)
c.2034G>A
c.39G>A (p.Arg13=)
c.113G>A
c.9060G>A (p.Arg3020=)
 dbSNP gnomAD v4
13g.32380045G>CCA483262055BRCA2c.9156G>C (p.Arg3052=)
c.*523G>C (n.*523G>C)
c.8787G>C (p.Arg2929=)
c.*718G>C (n.*718G>C)
c.9105G>C (p.Arg3035=)
c.1572G>C (p.Arg524=)
n.1283G>C
c.9164G>C (n.9164G>C)
c.2034G>C
c.39G>C (p.Arg13=)
c.113G>C
c.9060G>C (p.Arg3020=)
 dbSNP
13g.32380045G>TCA483262056BRCA2c.9156G>T (p.Arg3052=)
c.*523G>T (n.*523G>T)
c.8787G>T (p.Arg2929=)
c.*718G>T (n.*718G>T)
c.9105G>T (p.Arg3035=)
c.1572G>T (p.Arg524=)
n.1283G>T
c.9164G>T (n.9164G>T)
c.2034G>T
c.39G>T (p.Arg13=)
c.113G>T
c.9060G>T (p.Arg3020=)
 dbSNP
13g.32380046G>ACA387757944BRCA2c.9157G>A (p.Glu3053Lys)
c.*524G>A (n.*524G>A)
c.8788G>A (p.Glu2930Lys)
c.*719G>A (n.*719G>A)
c.9106G>A (p.Glu3036Lys)
c.1573G>A (p.Glu525Lys)
n.1284G>A
c.9165G>A (n.9165G>A)
c.2035G>A
c.40G>A (p.Glu14Lys)
c.114G>A
c.9061G>A (p.Glu3021Lys)
 dbSNP
13g.32380046G>CCA387757945BRCA2c.9157G>C (p.Glu3053Gln)
c.*524G>C (n.*524G>C)
c.8788G>C (p.Glu2930Gln)
c.*719G>C (n.*719G>C)
c.9106G>C (p.Glu3036Gln)
c.1573G>C (p.Glu525Gln)
n.1284G>C
c.9165G>C (n.9165G>C)
c.2035G>C
c.40G>C (p.Glu14Gln)
c.114G>C
c.9061G>C (p.Glu3021Gln)
 ClinVar dbSNP
13g.32380046G>TCA387757938BRCA2c.9157G>T (p.Glu3053Ter)
c.*524G>T (n.*524G>T)
c.8788G>T (p.Glu2930Ter)
c.*719G>T (n.*719G>T)
c.9106G>T (p.Glu3036Ter)
c.1573G>T (p.Glu525Ter)
n.1284G>T
c.9165G>T (n.9165G>T)
c.2035G>T
c.40G>T (p.Glu14Ter)
c.114G>T
c.9061G>T (p.Glu3021Ter)
 dbSNP
13g.32380047A>CCA387757947BRCA2c.9158A>C (p.Glu3053Ala)
c.*525A>C (n.*525A>C)
c.8789A>C (p.Glu2930Ala)
c.*720A>C (n.*720A>C)
c.9107A>C (p.Glu3036Ala)
c.1574A>C (p.Glu525Ala)
n.1285A>C
c.9166A>C (n.9166A>C)
c.2036A>C
c.41A>C (p.Glu14Ala)
c.115A>C
c.9062A>C (p.Glu3021Ala)
13g.32380047A>GCA387757948BRCA2c.9158A>G (p.Glu3053Gly)
c.*525A>G (n.*525A>G)
c.8789A>G (p.Glu2930Gly)
c.*720A>G (n.*720A>G)
c.9107A>G (p.Glu3036Gly)
c.1574A>G (p.Glu525Gly)
n.1285A>G
c.9166A>G (n.9166A>G)
c.2036A>G
c.41A>G (p.Glu14Gly)
c.115A>G
c.9062A>G (p.Glu3021Gly)
 ClinVar dbSNP
13g.32380047A>TCA387757952BRCA2c.9158A>T (p.Glu3053Val)
c.*525A>T (n.*525A>T)
c.8789A>T (p.Glu2930Val)
c.*720A>T (n.*720A>T)
c.9107A>T (p.Glu3036Val)
c.1574A>T (p.Glu525Val)
n.1285A>T
c.9166A>T (n.9166A>T)
c.2036A>T
c.41A>T (p.Glu14Val)
c.115A>T
c.9062A>T (p.Glu3021Val)
 dbSNP
13g.32380048G>ACA483262057BRCA2c.9159G>A (p.Glu3053=)
c.*526G>A (n.*526G>A)
c.8790G>A (p.Glu2930=)
c.*721G>A (n.*721G>A)
c.9108G>A (p.Glu3036=)
c.1575G>A (p.Glu525=)
n.1286G>A
c.9167G>A (n.9167G>A)
c.2037G>A
c.42G>A (p.Glu14=)
c.116G>A
c.9063G>A (p.Glu3021=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.32380048G>CCA387757953BRCA2c.9159G>C (p.Glu3053Asp)
c.*526G>C (n.*526G>C)
c.8790G>C (p.Glu2930Asp)
c.*721G>C (n.*721G>C)
c.9108G>C (p.Glu3036Asp)
c.1575G>C (p.Glu525Asp)
n.1286G>C
c.9167G>C (n.9167G>C)
c.2037G>C
c.42G>C (p.Glu14Asp)
c.116G>C
c.9063G>C (p.Glu3021Asp)
 ClinVar dbSNP
13g.32380048G=CA2082840320BRCA2c.9159G= (p.Glu3053=)
c.*526G= (n.*526G=)
c.8790G= (p.Glu2930=)
c.*721G= (n.*721G=)
c.9108G= (p.Glu3036=)
c.1575G= (p.Glu525=)
n.1286G=
c.9167G= (n.9167G=)
c.2037G=
c.42G= (p.Glu14=)
c.116G=
c.9063G= (p.Glu3021=)
13g.32380048G>TCA387757955BRCA2c.9159G>T (p.Glu3053Asp)
c.*526G>T (n.*526G>T)
c.8790G>T (p.Glu2930Asp)
c.*721G>T (n.*721G>T)
c.9108G>T (p.Glu3036Asp)
c.1575G>T (p.Glu525Asp)
n.1286G>T
c.9167G>T (n.9167G>T)
c.2037G>T
c.42G>T (p.Glu14Asp)
c.116G>T
c.9063G>T (p.Glu3021Asp)
 ClinVar dbSNP
13g.32380048_32380049delinsGCCA2082840333BRCA2c.9159_9160delinsGC (p.Glu3053=)
c.*526_*527delinsGC (n.*526_*527delinsGC)
c.8790_8791delinsGC (p.Glu2930=)
c.*721_*722delinsGC (n.*721_*722delinsGC)
c.9108_9109delinsGC (p.Glu3036=)
c.1575_1576delinsGC (p.Glu525=)
n.1286_1287delinsGC
c.9167_9168delinsGC (n.9167_9168delinsGC)
c.2037_2038delinsGC
c.42_43delinsGC (p.Glu14=)
c.116_117delinsGC
c.9063_9064delinsGC (p.Glu3021=)
13g.32380049C>ACA387757956BRCA2c.9160C>A (p.Pro3054Thr)
c.*527C>A (n.*527C>A)
c.8791C>A (p.Pro2931Thr)
c.*722C>A (n.*722C>A)
c.9109C>A (p.Pro3037Thr)
c.1576C>A (p.Pro526Thr)
n.1287C>A
c.9168C>A (n.9168C>A)
c.2038C>A
c.43C>A (p.Pro15Thr)
c.117C>A
c.9064C>A (p.Pro3022Thr)
 dbSNP
13g.32380049C=CA2082840342BRCA2c.9160C= (p.Pro3054=)
c.*527C= (n.*527C=)
c.8791C= (p.Pro2931=)
c.*722C= (n.*722C=)
c.9109C= (p.Pro3037=)
c.1576C= (p.Pro526=)
n.1287C=
c.9168C= (n.9168C=)
c.2038C=
c.43C= (p.Pro15=)
c.117C=
c.9064C= (p.Pro3022=)
13g.32380049C>GCA387757957BRCA2c.9160C>G (p.Pro3054Ala)
c.*527C>G (n.*527C>G)
c.8791C>G (p.Pro2931Ala)
c.*722C>G (n.*722C>G)
c.9109C>G (p.Pro3037Ala)
c.1576C>G (p.Pro526Ala)
n.1287C>G
c.9168C>G (n.9168C>G)
c.2038C>G
c.43C>G (p.Pro15Ala)
c.117C>G
c.9064C>G (p.Pro3022Ala)
 ClinVar dbSNP
13g.32380049C>TCA026009BRCA2c.9160C>T (p.Pro3054Ser)
c.*527C>T (n.*527C>T)
c.8791C>T (p.Pro2931Ser)
c.*722C>T (n.*722C>T)
c.9109C>T (p.Pro3037Ser)
c.1576C>T (p.Pro526Ser)
n.1287C>T
c.9168C>T (n.9168C>T)
c.2038C>T
c.43C>T (p.Pro15Ser)
c.117C>T
c.9064C>T (p.Pro3022Ser)
 ClinVar dbSNP
13g.32380049_32380050delinsGTCA2580087504BRCA2c.9160_9161delinsGT (p.Pro3054Val)
c.*527_*528delinsGT (n.*527_*528delinsGT)
c.8791_8792delinsGT (p.Pro2931Val)
c.*722_*723delinsGT (n.*722_*723delinsGT)
c.9109_9110delinsGT (p.Pro3037Val)
c.1576_1577delinsGT (p.Pro526Val)
n.1287_1288delinsGT
c.9168_9169delinsGT (n.9168_9169delinsGT)
c.2038_2039delinsGT
c.43_44delinsGT (p.Pro15Val)
c.117_118delinsGT
c.9064_9065delinsGT (p.Pro3022Val)
 ClinVar
13g.32380052delCA2082840347BRCA2c.9163del (p.Leu3055PhefsTer7)
c.*530del (n.*530del)
c.8794del (p.Leu2932PhefsTer7)
c.*725del (n.*725del)
c.9112del (p.Leu3038PhefsTer7)
c.1579del (p.Leu527PhefsTer7)
n.1290del
c.9171del (n.9171del)
c.2041del
c.46del (p.Leu16PhefsTer7)
c.120del
c.9067del (p.Leu3023PhefsTer7)
 ClinVar dbSNP
13g.32380050C>ACA026010BRCA2c.9161C>A (p.Pro3054His)
c.*528C>A (n.*528C>A)
c.8792C>A (p.Pro2931His)
c.*723C>A (n.*723C>A)
c.9110C>A (p.Pro3037His)
c.1577C>A (p.Pro526His)
n.1288C>A
c.9169C>A (n.9169C>A)
c.2039C>A
c.44C>A (p.Pro15His)
c.118C>A
c.9065C>A (p.Pro3022His)
 ClinVar dbSNP gnomAD v4
13g.32380050C=CA2082840356BRCA2c.9161C= (p.Pro3054=)
c.*528C= (n.*528C=)
c.8792C= (p.Pro2931=)
c.*723C= (n.*723C=)
c.9110C= (p.Pro3037=)
c.1577C= (p.Pro526=)
n.1288C=
c.9169C= (n.9169C=)
c.2039C=
c.44C= (p.Pro15=)
c.118C=
c.9065C= (p.Pro3022=)
13g.32380050C>GCA387757962BRCA2c.9161C>G (p.Pro3054Arg)
c.*528C>G (n.*528C>G)
c.8792C>G (p.Pro2931Arg)
c.*723C>G (n.*723C>G)
c.9110C>G (p.Pro3037Arg)
c.1577C>G (p.Pro526Arg)
n.1288C>G
c.9169C>G (n.9169C>G)
c.2039C>G
c.44C>G (p.Pro15Arg)
c.118C>G
c.9065C>G (p.Pro3022Arg)
 ClinVar dbSNP
13g.32380050C>TCA026011BRCA2c.9161C>T (p.Pro3054Leu)
c.*528C>T (n.*528C>T)
c.8792C>T (p.Pro2931Leu)
c.*723C>T (n.*723C>T)
c.9110C>T (p.Pro3037Leu)
c.1577C>T (p.Pro526Leu)
n.1288C>T
c.9169C>T (n.9169C>T)
c.2039C>T
c.44C>T (p.Pro15Leu)
c.118C>T
c.9065C>T (p.Pro3022Leu)
 ClinVar dbSNP gnomAD v4
13g.32380051C>ACA483262059BRCA2c.9162C>A (p.Pro3054=)
c.*529C>A (n.*529C>A)
c.8793C>A (p.Pro2931=)
c.*724C>A (n.*724C>A)
c.9111C>A (p.Pro3037=)
c.1578C>A (p.Pro526=)
n.1289C>A
c.9170C>A (n.9170C>A)
c.2040C>A
c.45C>A (p.Pro15=)
c.119C>A
c.9066C>A (p.Pro3022=)
 dbSNP
13g.32380051C=CA2082840377BRCA2c.9162C= (p.Pro3054=)
c.*529C= (n.*529C=)
c.8793C= (p.Pro2931=)
c.*724C= (n.*724C=)
c.9111C= (p.Pro3037=)
c.1578C= (p.Pro526=)
n.1289C=
c.9170C= (n.9170C=)
c.2040C=
c.45C= (p.Pro15=)
c.119C=
c.9066C= (p.Pro3022=)
13g.32380051C>GCA6941350BRCA2c.9162C>G (p.Pro3054=)
c.*529C>G (n.*529C>G)
c.8793C>G (p.Pro2931=)
c.*724C>G (n.*724C>G)
c.9111C>G (p.Pro3037=)
c.1578C>G (p.Pro526=)
n.1289C>G
c.9170C>G (n.9170C>G)
c.2040C>G
c.45C>G (p.Pro15=)
c.119C>G
c.9066C>G (p.Pro3022=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32380051C>TCA483262060BRCA2c.9162C>T (p.Pro3054=)
c.*529C>T (n.*529C>T)
c.8793C>T (p.Pro2931=)
c.*724C>T (n.*724C>T)
c.9111C>T (p.Pro3037=)
c.1578C>T (p.Pro526=)
n.1289C>T
c.9170C>T (n.9170C>T)
c.2040C>T
c.45C>T (p.Pro15=)
c.119C>T
c.9066C>T (p.Pro3022=)
 ClinVar dbSNP gnomAD v4
13g.32380052C>ACA387757970BRCA2c.9163C>A (p.Leu3055Ile)
c.*530C>A (n.*530C>A)
c.8794C>A (p.Leu2932Ile)
c.*725C>A (n.*725C>A)
c.9112C>A (p.Leu3038Ile)
c.1579C>A (p.Leu527Ile)
n.1290C>A
c.9171C>A (n.9171C>A)
c.2041C>A
c.46C>A (p.Leu16Ile)
c.120C>A
c.9067C>A (p.Leu3023Ile)
 ClinVar dbSNP
13g.32380052C>GCA387757966BRCA2c.9163C>G (p.Leu3055Val)
c.*530C>G (n.*530C>G)
c.8794C>G (p.Leu2932Val)
c.*725C>G (n.*725C>G)
c.9112C>G (p.Leu3038Val)
c.1579C>G (p.Leu527Val)
n.1290C>G
c.9171C>G (n.9171C>G)
c.2041C>G
c.46C>G (p.Leu16Val)
c.120C>G
c.9067C>G (p.Leu3023Val)
 dbSNP
13g.32380052C>TCA387757968BRCA2c.9163C>T (p.Leu3055Phe)
c.*530C>T (n.*530C>T)
c.8794C>T (p.Leu2932Phe)
c.*725C>T (n.*725C>T)
c.9112C>T (p.Leu3038Phe)
c.1579C>T (p.Leu527Phe)
n.1290C>T
c.9171C>T (n.9171C>T)
c.2041C>T
c.46C>T (p.Leu16Phe)
c.120C>T
c.9067C>T (p.Leu3023Phe)
 dbSNP
13g.32380053T>ACA387757972BRCA2c.9164T>A (p.Leu3055His)
c.*531T>A (n.*531T>A)
c.8795T>A (p.Leu2932His)
c.*726T>A (n.*726T>A)
c.9113T>A (p.Leu3038His)
c.1580T>A (p.Leu527His)
n.1291T>A
c.9172T>A (n.9172T>A)
c.2042T>A
c.47T>A (p.Leu16His)
c.121T>A
c.9068T>A (p.Leu3023His)
 dbSNP
13g.32380053T>CCA387757973BRCA2c.9164T>C (p.Leu3055Pro)
c.*531T>C (n.*531T>C)
c.8795T>C (p.Leu2932Pro)
c.*726T>C (n.*726T>C)
c.9113T>C (p.Leu3038Pro)
c.1580T>C (p.Leu527Pro)
n.1291T>C
c.9172T>C (n.9172T>C)
c.2042T>C
c.47T>C (p.Leu16Pro)
c.121T>C
c.9068T>C (p.Leu3023Pro)
 dbSNP
13g.32380053T>GCA387757975BRCA2c.9164T>G (p.Leu3055Arg)
c.*531T>G (n.*531T>G)
c.8795T>G (p.Leu2932Arg)
c.*726T>G (n.*726T>G)
c.9113T>G (p.Leu3038Arg)
c.1580T>G (p.Leu527Arg)
n.1291T>G
c.9172T>G (n.9172T>G)
c.2042T>G
c.47T>G (p.Leu16Arg)
c.121T>G
c.9068T>G (p.Leu3023Arg)
13g.32380054T>ACA483262063BRCA2c.9165T>A (p.Leu3055=)
c.*532T>A (n.*532T>A)
c.8796T>A (p.Leu2932=)
c.*727T>A (n.*727T>A)
c.9114T>A (p.Leu3038=)
c.1581T>A (p.Leu527=)
n.1292T>A
c.9173T>A (n.9173T>A)
c.2043T>A
c.48T>A (p.Leu16=)
c.122T>A
c.9069T>A (p.Leu3023=)
 dbSNP
13g.32380054T>CCA483262062BRCA2c.9165T>C (p.Leu3055=)
c.*532T>C (n.*532T>C)
c.8796T>C (p.Leu2932=)
c.*727T>C (n.*727T>C)
c.9114T>C (p.Leu3038=)
c.1581T>C (p.Leu527=)
n.1292T>C
c.9173T>C (n.9173T>C)
c.2043T>C
c.48T>C (p.Leu16=)
c.122T>C
c.9069T>C (p.Leu3023=)
13g.32380054T>GCA483262061BRCA2c.9165T>G (p.Leu3055=)
c.*532T>G (n.*532T>G)
c.8796T>G (p.Leu2932=)
c.*727T>G (n.*727T>G)
c.9114T>G (p.Leu3038=)
c.1581T>G (p.Leu527=)
n.1292T>G
c.9173T>G (n.9173T>G)
c.2043T>G
c.48T>G (p.Leu16=)
c.122T>G
c.9069T>G (p.Leu3023=)
13g.32380055C>ACA387757978BRCA2c.9166C>A (p.His3056Asn)
c.*533C>A (n.*533C>A)
c.8797C>A (p.His2933Asn)
c.*728C>A (n.*728C>A)
c.9115C>A (p.His3039Asn)
c.1582C>A (p.His528Asn)
n.1293C>A
c.9174C>A (n.9174C>A)
c.2044C>A
c.49C>A (p.His17Asn)
c.123C>A
c.9070C>A (p.His3024Asn)
 dbSNP
13g.32380055C=CA2082840388BRCA2c.9166C= (p.His3056=)
c.*533C= (n.*533C=)
c.8797C= (p.His2933=)
c.*728C= (n.*728C=)
c.9115C= (p.His3039=)
c.1582C= (p.His528=)
n.1293C=
c.9174C= (n.9174C=)
c.2044C=
c.49C= (p.His17=)
c.123C=
c.9070C= (p.His3024=)
13g.32380055C>GCA387757981BRCA2c.9166C>G (p.His3056Asp)
c.*533C>G (n.*533C>G)
c.8797C>G (p.His2933Asp)
c.*728C>G (n.*728C>G)
c.9115C>G (p.His3039Asp)
c.1582C>G (p.His528Asp)
n.1293C>G
c.9174C>G (n.9174C>G)
c.2044C>G
c.49C>G (p.His17Asp)
c.123C>G
c.9070C>G (p.His3024Asp)
 dbSNP
13g.32380055C>TCA387757982BRCA2c.9166C>T (p.His3056Tyr)
c.*533C>T (n.*533C>T)
c.8797C>T (p.His2933Tyr)
c.*728C>T (n.*728C>T)
c.9115C>T (p.His3039Tyr)
c.1582C>T (p.His528Tyr)
n.1293C>T
c.9174C>T (n.9174C>T)
c.2044C>T
c.49C>T (p.His17Tyr)
c.123C>T
c.9070C>T (p.His3024Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.32380056A=CA2082840403BRCA2c.9167A= (p.His3056=)
c.*534A= (n.*534A=)
c.8798A= (p.His2933=)
c.*729A= (n.*729A=)
c.9116A= (p.His3039=)
c.1583A= (p.His528=)
n.1294A=
c.9175A= (n.9175A=)
c.2045A=
c.50A= (p.His17=)
c.124A=
c.9071A= (p.His3024=)
13g.32380056A>CCA387757984BRCA2c.9167A>C (p.His3056Pro)
c.*534A>C (n.*534A>C)
c.8798A>C (p.His2933Pro)
c.*729A>C (n.*729A>C)
c.9116A>C (p.His3039Pro)
c.1583A>C (p.His528Pro)
n.1294A>C
c.9175A>C (n.9175A>C)
c.2045A>C
c.50A>C (p.His17Pro)
c.124A>C
c.9071A>C (p.His3024Pro)
 ClinVar dbSNP
13g.32380056A>GCA387757986BRCA2c.9167A>G (p.His3056Arg)
c.*534A>G (n.*534A>G)
c.8798A>G (p.His2933Arg)
c.*729A>G (n.*729A>G)
c.9116A>G (p.His3039Arg)
c.1583A>G (p.His528Arg)
n.1294A>G
c.9175A>G (n.9175A>G)
c.2045A>G
c.50A>G (p.His17Arg)
c.124A>G
c.9071A>G (p.His3024Arg)
 dbSNP gnomAD v4
13g.32380056A>TCA026012BRCA2c.9167A>T (p.His3056Leu)
c.*534A>T (n.*534A>T)
c.8798A>T (p.His2933Leu)
c.*729A>T (n.*729A>T)
c.9116A>T (p.His3039Leu)
c.1583A>T (p.His528Leu)
n.1294A>T
c.9175A>T (n.9175A>T)
c.2045A>T
c.50A>T (p.His17Leu)
c.124A>T
c.9071A>T (p.His3024Leu)
 ClinVar dbSNP
13g.32380057C>ACA387757989BRCA2c.9168C>A (p.His3056Gln)
c.*535C>A (n.*535C>A)
c.8799C>A (p.His2933Gln)
c.*730C>A (n.*730C>A)
c.9117C>A (p.His3039Gln)
c.1584C>A (p.His528Gln)
n.1295C>A
c.9176C>A (n.9176C>A)
c.2046C>A
c.51C>A (p.His17Gln)
c.125C>A
c.9072C>A (p.His3024Gln)
13g.32380057C=CA2082840418BRCA2c.9168C= (p.His3056=)
c.*535C= (n.*535C=)
c.8799C= (p.His2933=)
c.*730C= (n.*730C=)
c.9117C= (p.His3039=)
c.1584C= (p.His528=)
n.1295C=
c.9176C= (n.9176C=)
c.2046C=
c.51C= (p.His17=)
c.125C=
c.9072C= (p.His3024=)
13g.32380057C>GCA10577495BRCA2c.9168C>G (p.His3056Gln)
c.*535C>G (n.*535C>G)
c.8799C>G (p.His2933Gln)
c.*730C>G (n.*730C>G)
c.9117C>G (p.His3039Gln)
c.1584C>G (p.His528Gln)
n.1295C>G
c.9176C>G (n.9176C>G)
c.2046C>G
c.51C>G (p.His17Gln)
c.125C>G
c.9072C>G (p.His3024Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.32380057C>TCA483262065BRCA2c.9168C>T (p.His3056=)
c.*535C>T (n.*535C>T)
c.8799C>T (p.His2933=)
c.*730C>T (n.*730C>T)
c.9117C>T (p.His3039=)
c.1584C>T (p.His528=)
n.1295C>T
c.9176C>T (n.9176C>T)
c.2046C>T
c.51C>T (p.His17=)
c.125C>T
c.9072C>T (p.His3024=)
 ClinVar dbSNP gnomAD v4
13g.32380058T>ACA387757995BRCA2c.9169T>A (p.Phe3057Ile)
c.*536T>A (n.*536T>A)
c.8800T>A (p.Phe2934Ile)
c.*731T>A (n.*731T>A)
c.9118T>A (p.Phe3040Ile)
c.1585T>A (p.Phe529Ile)
n.1296T>A
c.9177T>A (n.9177T>A)
c.2047T>A
c.52T>A (p.Phe18Ile)
c.126T>A
c.9073T>A (p.Phe3025Ile)
 dbSNP COSMIC COSMIC
13g.32380058T>CCA387757994BRCA2c.9169T>C (p.Phe3057Leu)
c.*536T>C (n.*536T>C)
c.8800T>C (p.Phe2934Leu)
c.*731T>C (n.*731T>C)
c.9118T>C (p.Phe3040Leu)
c.1585T>C (p.Phe529Leu)
n.1296T>C
c.9177T>C (n.9177T>C)
c.2047T>C
c.52T>C (p.Phe18Leu)
c.126T>C
c.9073T>C (p.Phe3025Leu)
13g.32380058T>GCA026013BRCA2c.9169T>G (p.Phe3057Val)
c.*536T>G (n.*536T>G)
c.8800T>G (p.Phe2934Val)
c.*731T>G (n.*731T>G)
c.9118T>G (p.Phe3040Val)
c.1585T>G (p.Phe529Val)
n.1296T>G
c.9177T>G (n.9177T>G)
c.2047T>G
c.52T>G (p.Phe18Val)
c.126T>G
c.9073T>G (p.Phe3025Val)
 ClinVar dbSNP
13g.32380058T=CA2082840430BRCA2c.9169T= (p.Phe3057=)
c.*536T= (n.*536T=)
c.8800T= (p.Phe2934=)
c.*731T= (n.*731T=)
c.9118T= (p.Phe3040=)
c.1585T= (p.Phe529=)
n.1296T=
c.9177T= (n.9177T=)
c.2047T=
c.52T= (p.Phe18=)
c.126T=
c.9073T= (p.Phe3025=)
13g.32380059T>ACA387757997BRCA2c.9170T>A (p.Phe3057Tyr)
c.*537T>A (n.*537T>A)
c.8801T>A (p.Phe2934Tyr)
c.*732T>A (n.*732T>A)
c.9119T>A (p.Phe3040Tyr)
c.1586T>A (p.Phe529Tyr)
n.1297T>A
c.9178T>A (n.9178T>A)
c.2048T>A
c.53T>A (p.Phe18Tyr)
c.127T>A
c.9074T>A (p.Phe3025Tyr)
 dbSNP
13g.32380059T>CCA387757998BRCA2c.9170T>C (p.Phe3057Ser)
c.*537T>C (n.*537T>C)
c.8801T>C (p.Phe2934Ser)
c.*732T>C (n.*732T>C)
c.9119T>C (p.Phe3040Ser)
c.1586T>C (p.Phe529Ser)
n.1297T>C
c.9178T>C (n.9178T>C)
c.2048T>C
c.53T>C (p.Phe18Ser)
c.127T>C
c.9074T>C (p.Phe3025Ser)
13g.32380059T>GCA387757999BRCA2c.9170T>G (p.Phe3057Cys)
c.*537T>G (n.*537T>G)
c.8801T>G (p.Phe2934Cys)
c.*732T>G (n.*732T>G)
c.9119T>G (p.Phe3040Cys)
c.1586T>G (p.Phe529Cys)
n.1297T>G
c.9178T>G (n.9178T>G)
c.2048T>G
c.53T>G (p.Phe18Cys)
c.127T>G
c.9074T>G (p.Phe3025Cys)
 ClinVar dbSNP
13g.32380060C>ACA387758000BRCA2c.9171C>A (p.Phe3057Leu)
c.*538C>A (n.*538C>A)
c.8802C>A (p.Phe2934Leu)
c.*733C>A (n.*733C>A)
c.9120C>A (p.Phe3040Leu)
c.1587C>A (p.Phe529Leu)
n.1298C>A
c.9179C>A (n.9179C>A)
c.2049C>A
c.54C>A (p.Phe18Leu)
c.128C>A
c.9075C>A (p.Phe3025Leu)
 dbSNP
13g.32380060C=CA2082840439BRCA2c.9171C= (p.Phe3057=)
c.*538C= (n.*538C=)
c.8802C= (p.Phe2934=)
c.*733C= (n.*733C=)
c.9120C= (p.Phe3040=)
c.1587C= (p.Phe529=)
n.1298C=
c.9179C= (n.9179C=)
c.2049C=
c.54C= (p.Phe18=)
c.128C=
c.9075C= (p.Phe3025=)
13g.32380060C>GCA026014BRCA2c.9171C>G (p.Phe3057Leu)
c.*538C>G (n.*538C>G)
c.8802C>G (p.Phe2934Leu)
c.*733C>G (n.*733C>G)
c.9120C>G (p.Phe3040Leu)
c.1587C>G (p.Phe529Leu)
n.1298C>G
c.9179C>G (n.9179C>G)
c.2049C>G
c.54C>G (p.Phe18Leu)
c.128C>G
c.9075C>G (p.Phe3025Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32380060C>TCA483262066BRCA2c.9171C>T (p.Phe3057=)
c.*538C>T (n.*538C>T)
c.8802C>T (p.Phe2934=)
c.*733C>T (n.*733C>T)
c.9120C>T (p.Phe3040=)
c.1587C>T (p.Phe529=)
n.1298C>T
c.9179C>T (n.9179C>T)
c.2049C>T
c.54C>T (p.Phe18=)
c.128C>T
c.9075C>T (p.Phe3025=)
 dbSNP
13g.32380061A=CA2082840454BRCA2c.9172A= (p.Ser3058=)
c.*539A= (n.*539A=)
c.8803A= (p.Ser2935=)
c.*734A= (n.*734A=)
c.9121A= (p.Ser3041=)
c.1588A= (p.Ser530=)
n.1299A=
c.9180A= (n.9180A=)
c.2050A=
c.55A= (p.Ser19=)
c.129A=
c.9076A= (p.Ser3026=)
13g.32380061A>CCA387758001BRCA2c.9172A>C (p.Ser3058Arg)
c.*539A>C (n.*539A>C)
c.8803A>C (p.Ser2935Arg)
c.*734A>C (n.*734A>C)
c.9121A>C (p.Ser3041Arg)
c.1588A>C (p.Ser530Arg)
n.1299A>C
c.9180A>C (n.9180A>C)
c.2050A>C
c.55A>C (p.Ser19Arg)
c.129A>C
c.9076A>C (p.Ser3026Arg)
13g.32380061A>GCA026015BRCA2c.9172A>G (p.Ser3058Gly)
c.*539A>G (n.*539A>G)
c.8803A>G (p.Ser2935Gly)
c.*734A>G (n.*734A>G)
c.9121A>G (p.Ser3041Gly)
c.1588A>G (p.Ser530Gly)
n.1299A>G
c.9180A>G (n.9180A>G)
c.2050A>G
c.55A>G (p.Ser19Gly)
c.129A>G
c.9076A>G (p.Ser3026Gly)
 ClinVar dbSNP
13g.32380061A>TCA387758004BRCA2c.9172A>T (p.Ser3058Cys)
c.*539A>T (n.*539A>T)
c.8803A>T (p.Ser2935Cys)
c.*734A>T (n.*734A>T)
c.9121A>T (p.Ser3041Cys)
c.1588A>T (p.Ser530Cys)
n.1299A>T
c.9180A>T (n.9180A>T)
c.2050A>T
c.55A>T (p.Ser19Cys)
c.129A>T
c.9076A>T (p.Ser3026Cys)
 dbSNP
13g.32380062G>ACA387758014BRCA2c.9173G>A (p.Ser3058Asn)
c.*540G>A (n.*540G>A)
c.8804G>A (p.Ser2935Asn)
c.*735G>A (n.*735G>A)
c.9122G>A (p.Ser3041Asn)
c.1589G>A (p.Ser530Asn)
n.1300G>A
c.9181G>A (n.9181G>A)
c.2051G>A
c.56G>A (p.Ser19Asn)
c.130G>A
c.9077G>A (p.Ser3026Asn)
 ClinVar dbSNP
13g.32380062G>CCA387758016BRCA2c.9173G>C (p.Ser3058Thr)
c.*540G>C (n.*540G>C)
c.8804G>C (p.Ser2935Thr)
c.*735G>C (n.*735G>C)
c.9122G>C (p.Ser3041Thr)
c.1589G>C (p.Ser530Thr)
n.1300G>C
c.9181G>C (n.9181G>C)
c.2051G>C
c.56G>C (p.Ser19Thr)
c.130G>C
c.9077G>C (p.Ser3026Thr)
 dbSNP
13g.32380062G>TCA387758017BRCA2c.9173G>T (p.Ser3058Ile)
c.*540G>T (n.*540G>T)
c.8804G>T (p.Ser2935Ile)
c.*735G>T (n.*735G>T)
c.9122G>T (p.Ser3041Ile)
c.1589G>T (p.Ser530Ile)
n.1300G>T
c.9181G>T (n.9181G>T)
c.2051G>T
c.56G>T (p.Ser19Ile)
c.130G>T
c.9077G>T (p.Ser3026Ile)
 dbSNP
13g.32380063C>ACA387758018BRCA2c.9174C>A (p.Ser3058Arg)
c.*541C>A (n.*541C>A)
c.8805C>A (p.Ser2935Arg)
c.*736C>A (n.*736C>A)
c.9123C>A (p.Ser3041Arg)
c.1590C>A (p.Ser530Arg)
n.1301C>A
c.9182C>A (n.9182C>A)
c.2052C>A
c.57C>A (p.Ser19Arg)
c.131C>A
c.9078C>A (p.Ser3026Arg)
 dbSNP gnomAD v4
13g.32380063C>GCA387758019BRCA2c.9174C>G (p.Ser3058Arg)
c.*541C>G (n.*541C>G)
c.8805C>G (p.Ser2935Arg)
c.*736C>G (n.*736C>G)
c.9123C>G (p.Ser3041Arg)
c.1590C>G (p.Ser530Arg)
n.1301C>G
c.9182C>G (n.9182C>G)
c.2052C>G
c.57C>G (p.Ser19Arg)
c.131C>G
c.9078C>G (p.Ser3026Arg)
 dbSNP
13g.32380063C>TCA483262070BRCA2c.9174C>T (p.Ser3058=)
c.*541C>T (n.*541C>T)
c.8805C>T (p.Ser2935=)
c.*736C>T (n.*736C>T)
c.9123C>T (p.Ser3041=)
c.1590C>T (p.Ser530=)
n.1301C>T
c.9182C>T (n.9182C>T)
c.2052C>T
c.57C>T (p.Ser19=)
c.131C>T
c.9078C>T (p.Ser3026=)
 ClinVar dbSNP gnomAD v4
13g.32380063_32380064delinsCACA2082840461BRCA2c.9174_9175delinsCA (p.Ser3058=)
c.*541_*542delinsCA (n.*541_*542delinsCA)
c.8805_8806delinsCA (p.Ser2935=)
c.*736_*737delinsCA (n.*736_*737delinsCA)
c.9123_9124delinsCA (p.Ser3041=)
c.1590_1591delinsCA (p.Ser530=)
n.1301_1302delinsCA
c.9182_9183delinsCA (n.9182_9183delinsCA)
c.2052_2053delinsCA
c.57_58delinsCA (p.Ser19=)
c.131_132delinsCA
c.9078_9079delinsCA (p.Ser3026=)
13g.32380064A=CA2082840476BRCA2c.9175A= (p.Lys3059=)
c.*542A= (n.*542A=)
c.8806A= (p.Lys2936=)
c.*737A= (n.*737A=)
c.9124A= (p.Lys3042=)
c.1591A= (p.Lys531=)
n.1302A=
c.9183A= (n.9183A=)
c.2053A=
c.58A= (p.Lys20=)
c.132A=
c.9079A= (p.Lys3027=)
13g.32380064A>CCA387758021BRCA2c.9175A>C (p.Lys3059Gln)
c.*542A>C (n.*542A>C)
c.8806A>C (p.Lys2936Gln)
c.*737A>C (n.*737A>C)
c.9124A>C (p.Lys3042Gln)
c.1591A>C (p.Lys531Gln)
n.1302A>C
c.9183A>C (n.9183A>C)
c.2053A>C
c.58A>C (p.Lys20Gln)
c.132A>C
c.9079A>C (p.Lys3027Gln)
13g.32380064A>GCA026016BRCA2c.9175A>G (p.Lys3059Glu)
c.*542A>G (n.*542A>G)
c.8806A>G (p.Lys2936Glu)
c.*737A>G (n.*737A>G)
c.9124A>G (p.Lys3042Glu)
c.1591A>G (p.Lys531Glu)
n.1302A>G
c.9183A>G (n.9183A>G)
c.2053A>G
c.58A>G (p.Lys20Glu)
c.132A>G
c.9079A>G (p.Lys3027Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.32380064A>TCA387758020BRCA2c.9175A>T (p.Lys3059Ter)
c.*542A>T (n.*542A>T)
c.8806A>T (p.Lys2936Ter)
c.*737A>T (n.*737A>T)
c.9124A>T (p.Lys3042Ter)
c.1591A>T (p.Lys531Ter)
n.1302A>T
c.9183A>T (n.9183A>T)
c.2053A>T
c.58A>T (p.Lys20Ter)
c.132A>T
c.9079A>T (p.Lys3027Ter)
 dbSNP
13g.32380066dupCA1139663166BRCA2c.9177dup (p.Phe3060IlefsTer12)
c.*544dup (n.*544dup)
c.8808dup (p.Phe2937IlefsTer12)
c.*739dup (n.*739dup)
c.9126dup (p.Phe3043IlefsTer12)
c.1593dup (p.Phe532IlefsTer12)
n.1304dup
c.9185dup (n.9185dup)
c.2055dup
c.60dup (p.Phe21IlefsTer12)
c.134dup
c.9081dup (p.Phe3028IlefsTer12)
 ClinVar dbSNP
13g.32380066delCA026018BRCA2c.9177del (p.Lys3059AsnfsTer3)
c.*544del (n.*544del)
c.8808del (p.Lys2936AsnfsTer3)
c.*739del (n.*739del)
c.9126del (p.Lys3042AsnfsTer3)
c.1593del (p.Lys531AsnfsTer3)
n.1304del
c.9185del (n.9185del)
c.2055del
c.60del (p.Lys20AsnfsTer3)
c.134del
c.9081del (p.Lys3027AsnfsTer3)
 ClinVar dbSNP
13g.32380065A=CA2082840493BRCA2c.9176A= (p.Lys3059=)
c.*543A= (n.*543A=)
c.8807A= (p.Lys2936=)
c.*738A= (n.*738A=)
c.9125A= (p.Lys3042=)
c.1592A= (p.Lys531=)
n.1303A=
c.9184A= (n.9184A=)
c.2054A=
c.59A= (p.Lys20=)
c.133A=
c.9080A= (p.Lys3027=)
13g.32380065A>CCA387758024BRCA2c.9176A>C (p.Lys3059Thr)
c.*543A>C (n.*543A>C)
c.8807A>C (p.Lys2936Thr)
c.*738A>C (n.*738A>C)
c.9125A>C (p.Lys3042Thr)
c.1592A>C (p.Lys531Thr)
n.1303A>C
c.9184A>C (n.9184A>C)
c.2054A>C
c.59A>C (p.Lys20Thr)
c.133A>C
c.9080A>C (p.Lys3027Thr)
13g.32380065A>GCA387758027BRCA2c.9176A>G (p.Lys3059Arg)
c.*543A>G (n.*543A>G)
c.8807A>G (p.Lys2936Arg)
c.*738A>G (n.*738A>G)
c.9125A>G (p.Lys3042Arg)
c.1592A>G (p.Lys531Arg)
n.1303A>G
c.9184A>G (n.9184A>G)
c.2054A>G
c.59A>G (p.Lys20Arg)
c.133A>G
c.9080A>G (p.Lys3027Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.32380065A>TCA387758030BRCA2c.9176A>T (p.Lys3059Ile)
c.*543A>T (n.*543A>T)
c.8807A>T (p.Lys2936Ile)
c.*738A>T (n.*738A>T)
c.9125A>T (p.Lys3042Ile)
c.1592A>T (p.Lys531Ile)
n.1303A>T
c.9184A>T (n.9184A>T)
c.2054A>T
c.59A>T (p.Lys20Ile)
c.133A>T
c.9080A>T (p.Lys3027Ile)
 dbSNP
13g.32380066A=CA2082840507BRCA2c.9177A= (p.Lys3059=)
c.*544A= (n.*544A=)
c.8808A= (p.Lys2936=)
c.*739A= (n.*739A=)
c.9126A= (p.Lys3042=)
c.1593A= (p.Lys531=)
n.1304A=
c.9185A= (n.9185A=)
c.2055A=
c.60A= (p.Lys20=)
c.134A=
c.9081A= (p.Lys3027=)
13g.32380066A>CCA026017BRCA2c.9177A>C (p.Lys3059Asn)
c.*544A>C (n.*544A>C)
c.8808A>C (p.Lys2936Asn)
c.*739A>C (n.*739A>C)
c.9126A>C (p.Lys3042Asn)
c.1593A>C (p.Lys531Asn)
n.1304A>C
c.9185A>C (n.9185A>C)
c.2055A>C
c.60A>C (p.Lys20Asn)
c.134A>C
c.9081A>C (p.Lys3027Asn)
 ClinVar dbSNP gnomAD v4
13g.32380066A>GCA6941351BRCA2c.9177A>G (p.Lys3059=)
c.*544A>G (n.*544A>G)
c.8808A>G (p.Lys2936=)
c.*739A>G (n.*739A>G)
c.9126A>G (p.Lys3042=)
c.1593A>G (p.Lys531=)
n.1304A>G
c.9185A>G (n.9185A>G)
c.2055A>G
c.60A>G (p.Lys20=)
c.134A>G
c.9081A>G (p.Lys3027=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32380066A>TCA387758049BRCA2c.9177A>T (p.Lys3059Asn)
c.*544A>T (n.*544A>T)
c.8808A>T (p.Lys2936Asn)
c.*739A>T (n.*739A>T)
c.9126A>T (p.Lys3042Asn)
c.1593A>T (p.Lys531Asn)
n.1304A>T
c.9185A>T (n.9185A>T)
c.2055A>T
c.60A>T (p.Lys20Asn)
c.134A>T
c.9081A>T (p.Lys3027Asn)
13g.32380067T>ACA387758054BRCA2c.9178T>A (p.Phe3060Ile)
c.*545T>A (n.*545T>A)
c.8809T>A (p.Phe2937Ile)
c.*740T>A (n.*740T>A)
c.9127T>A (p.Phe3043Ile)
c.1594T>A (p.Phe532Ile)
n.1305T>A
c.9186T>A (n.9186T>A)
c.2056T>A
c.61T>A (p.Phe21Ile)
c.135T>A
c.9082T>A (p.Phe3028Ile)
 dbSNP
13g.32380067T>CCA387758055BRCA2c.9178T>C (p.Phe3060Leu)
c.*545T>C (n.*545T>C)
c.8809T>C (p.Phe2937Leu)
c.*740T>C (n.*740T>C)
c.9127T>C (p.Phe3043Leu)
c.1594T>C (p.Phe532Leu)
n.1305T>C
c.9186T>C (n.9186T>C)
c.2056T>C
c.61T>C (p.Phe21Leu)
c.135T>C
c.9082T>C (p.Phe3028Leu)
 gnomAD v4
13g.32380067T>GCA387758056BRCA2c.9178T>G (p.Phe3060Val)
c.*545T>G (n.*545T>G)
c.8809T>G (p.Phe2937Val)
c.*740T>G (n.*740T>G)
c.9127T>G (p.Phe3043Val)
c.1594T>G (p.Phe532Val)
n.1305T>G
c.9186T>G (n.9186T>G)
c.2056T>G
c.61T>G (p.Phe21Val)
c.135T>G
c.9082T>G (p.Phe3028Val)
13g.32380068T>ACA387758057BRCA2c.9179T>A (p.Phe3060Tyr)
c.*546T>A (n.*546T>A)
c.8810T>A (p.Phe2937Tyr)
c.*741T>A (n.*741T>A)
c.9128T>A (p.Phe3043Tyr)
c.1595T>A (p.Phe532Tyr)
n.1306T>A
c.9187T>A (n.9187T>A)
c.2057T>A
c.62T>A (p.Phe21Tyr)
c.136T>A
c.9083T>A (p.Phe3028Tyr)
 ClinVar dbSNP
13g.32380068T>CCA387758058BRCA2c.9179T>C (p.Phe3060Ser)
c.*546T>C (n.*546T>C)
c.8810T>C (p.Phe2937Ser)
c.*741T>C (n.*741T>C)
c.9128T>C (p.Phe3043Ser)
c.1595T>C (p.Phe532Ser)
n.1306T>C
c.9187T>C (n.9187T>C)
c.2057T>C
c.62T>C (p.Phe21Ser)
c.136T>C
c.9083T>C (p.Phe3028Ser)
13g.32380068T>GCA10579813BRCA2c.9179T>G (p.Phe3060Cys)
c.*546T>G (n.*546T>G)
c.8810T>G (p.Phe2937Cys)
c.*741T>G (n.*741T>G)
c.9128T>G (p.Phe3043Cys)
c.1595T>G (p.Phe532Cys)
n.1306T>G
c.9187T>G (n.9187T>G)
c.2057T>G
c.62T>G (p.Phe21Cys)
c.136T>G
c.9083T>G (p.Phe3028Cys)
 ClinVar dbSNP
13g.32380068T=CA2082840522BRCA2c.9179T= (p.Phe3060=)
c.*546T= (n.*546T=)
c.8810T= (p.Phe2937=)
c.*741T= (n.*741T=)
c.9128T= (p.Phe3043=)
c.1595T= (p.Phe532=)
n.1306T=
c.9187T= (n.9187T=)
c.2057T=
c.62T= (p.Phe21=)
c.136T=
c.9083T= (p.Phe3028=)
13g.32380069T>ACA387758061BRCA2c.9180T>A (p.Phe3060Leu)
c.*547T>A (n.*547T>A)
c.8811T>A (p.Phe2937Leu)
c.*742T>A (n.*742T>A)
c.9129T>A (p.Phe3043Leu)
c.1596T>A (p.Phe532Leu)
n.1307T>A
c.9188T>A (n.9188T>A)
c.2058T>A
c.63T>A (p.Phe21Leu)
c.137T>A
c.9084T>A (p.Phe3028Leu)
 dbSNP
13g.32380069T>CCA6941352BRCA2c.9180T>C (p.Phe3060=)
c.*547T>C (n.*547T>C)
c.8811T>C (p.Phe2937=)
c.*742T>C (n.*742T>C)
c.9129T>C (p.Phe3043=)
c.1596T>C (p.Phe532=)
n.1307T>C
c.9188T>C (n.9188T>C)
c.2058T>C
c.63T>C (p.Phe21=)
c.137T>C
c.9084T>C (p.Phe3028=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32380069T>GCA387758066BRCA2c.9180T>G (p.Phe3060Leu)
c.*547T>G (n.*547T>G)
c.8811T>G (p.Phe2937Leu)
c.*742T>G (n.*742T>G)
c.9129T>G (p.Phe3043Leu)
c.1596T>G (p.Phe532Leu)
n.1307T>G
c.9188T>G (n.9188T>G)
c.2058T>G
c.63T>G (p.Phe21Leu)
c.137T>G
c.9084T>G (p.Phe3028Leu)
 ClinVar
13g.32380069T=CA2082840558BRCA2c.9180T= (p.Phe3060=)
c.*547T= (n.*547T=)
c.8811T= (p.Phe2937=)
c.*742T= (n.*742T=)
c.9129T= (p.Phe3043=)
c.1596T= (p.Phe532=)
n.1307T=
c.9188T= (n.9188T=)
c.2058T=
c.63T= (p.Phe21=)
c.137T=
c.9084T= (p.Phe3028=)
13g.32380070T>ACA387758079BRCA2c.9181T>A (p.Leu3061Ile)
c.*548T>A (n.*548T>A)
c.8812T>A (p.Leu2938Ile)
c.*743T>A (n.*743T>A)
c.9130T>A (p.Leu3044Ile)
c.1597T>A (p.Leu533Ile)
n.1308T>A
c.9189T>A (n.9189T>A)
c.2059T>A
c.64T>A (p.Leu22Ile)
c.138T>A
c.9085T>A (p.Leu3029Ile)
 ClinVar dbSNP
13g.32380070T>CCA483262076BRCA2c.9181T>C (p.Leu3061=)
c.*548T>C (n.*548T>C)
c.8812T>C (p.Leu2938=)
c.*743T>C (n.*743T>C)
c.9130T>C (p.Leu3044=)
c.1597T>C (p.Leu533=)
n.1308T>C
c.9189T>C (n.9189T>C)
c.2059T>C
c.64T>C (p.Leu22=)
c.138T>C
c.9085T>C (p.Leu3029=)
13g.32380070T>GCA387758081BRCA2c.9181T>G (p.Leu3061Val)
c.*548T>G (n.*548T>G)
c.8812T>G (p.Leu2938Val)
c.*743T>G (n.*743T>G)
c.9130T>G (p.Leu3044Val)
c.1597T>G (p.Leu533Val)
n.1308T>G
c.9189T>G (n.9189T>G)
c.2059T>G
c.64T>G (p.Leu22Val)
c.138T>G
c.9085T>G (p.Leu3029Val)
13g.32380071T>ACA026019BRCA2c.9182T>A (p.Leu3061Ter)
c.*549T>A (n.*549T>A)
c.8813T>A (p.Leu2938Ter)
c.*744T>A (n.*744T>A)
c.9131T>A (p.Leu3044Ter)
c.1598T>A (p.Leu533Ter)
n.1309T>A
c.9190T>A (n.9190T>A)
c.2060T>A
c.65T>A (p.Leu22Ter)
c.139T>A
c.9086T>A (p.Leu3029Ter)
 ClinVar dbSNP
13g.32380071T>CCA387758085BRCA2c.9182T>C (p.Leu3061Ser)
c.*549T>C (n.*549T>C)
c.8813T>C (p.Leu2938Ser)
c.*744T>C (n.*744T>C)
c.9131T>C (p.Leu3044Ser)
c.1598T>C (p.Leu533Ser)
n.1309T>C
c.9190T>C (n.9190T>C)
c.2060T>C
c.65T>C (p.Leu22Ser)
c.139T>C
c.9086T>C (p.Leu3029Ser)
 dbSNP
13g.32380071T>GCA10589552BRCA2c.9182T>G (p.Leu3061Ter)
c.*549T>G (n.*549T>G)
c.8813T>G (p.Leu2938Ter)
c.*744T>G (n.*744T>G)
c.9131T>G (p.Leu3044Ter)
c.1598T>G (p.Leu533Ter)
n.1309T>G
c.9190T>G (n.9190T>G)
c.2060T>G
c.65T>G (p.Leu22Ter)
c.139T>G
c.9086T>G (p.Leu3029Ter)
 ClinVar dbSNP
13g.32380071T=CA2082840563BRCA2c.9182T= (p.Leu3061=)
c.*549T= (n.*549T=)
c.8813T= (p.Leu2938=)
c.*744T= (n.*744T=)
c.9131T= (p.Leu3044=)
c.1598T= (p.Leu533=)
n.1309T=
c.9190T= (n.9190T=)
c.2060T=
c.65T= (p.Leu22=)
c.139T=
c.9086T= (p.Leu3029=)
13g.32380072A=CA2082840574BRCA2c.9183A= (p.Leu3061=)
c.*550A= (n.*550A=)
c.8814A= (p.Leu2938=)
c.*745A= (n.*745A=)
c.9132A= (p.Leu3044=)
c.1599A= (p.Leu533=)
n.1310A=
c.9191A= (n.9191A=)
c.2061A=
c.66A= (p.Leu22=)
c.140A=
c.9087A= (p.Leu3029=)
13g.32380072A>CCA387758090BRCA2c.9183A>C (p.Leu3061Phe)
c.*550A>C (n.*550A>C)
c.8814A>C (p.Leu2938Phe)
c.*745A>C (n.*745A>C)
c.9132A>C (p.Leu3044Phe)
c.1599A>C (p.Leu533Phe)
n.1310A>C
c.9191A>C (n.9191A>C)
c.2061A>C
c.66A>C (p.Leu22Phe)
c.140A>C
c.9087A>C (p.Leu3029Phe)
13g.32380072A>GCA483262077BRCA2c.9183A>G (p.Leu3061=)
c.*550A>G (n.*550A>G)
c.8814A>G (p.Leu2938=)
c.*745A>G (n.*745A>G)
c.9132A>G (p.Leu3044=)
c.1599A>G (p.Leu533=)
n.1310A>G
c.9191A>G (n.9191A>G)
c.2061A>G
c.66A>G (p.Leu22=)
c.140A>G
c.9087A>G (p.Leu3029=)
 ClinVar dbSNP
13g.32380072A>TCA387758092BRCA2c.9183A>T (p.Leu3061Phe)
c.*550A>T (n.*550A>T)
c.8814A>T (p.Leu2938Phe)
c.*745A>T (n.*745A>T)
c.9132A>T (p.Leu3044Phe)
c.1599A>T (p.Leu533Phe)
n.1310A>T
c.9191A>T (n.9191A>T)
c.2061A>T
c.66A>T (p.Leu22Phe)
c.140A>T
c.9087A>T (p.Leu3029Phe)
 dbSNP
13g.32380072dupCA658653815BRCA2c.9183dup (p.Asp3062ArgfsTer10)
c.*550dup (n.*550dup)
c.8814dup (p.Asp2939ArgfsTer10)
c.*745dup (n.*745dup)
c.9132dup (p.Asp3045ArgfsTer10)
c.1599dup (p.Asp534ArgfsTer10)
n.1310dup
c.9191dup (n.9191dup)
c.2061dup
c.66dup (p.Asp23ArgfsTer10)
c.140dup
c.9087dup (p.Asp3030ArgfsTer10)
 ClinVar dbSNP
13g.32380073G>ACA387758093BRCA2c.9184G>A (p.Asp3062Asn)
c.*551G>A (n.*551G>A)
c.8815G>A (p.Asp2939Asn)
c.*746G>A (n.*746G>A)
c.9133G>A (p.Asp3045Asn)
c.1600G>A (p.Asp534Asn)
n.1311G>A
c.9192G>A (n.9192G>A)
c.2062G>A
c.67G>A (p.Asp23Asn)
c.141G>A
c.9088G>A (p.Asp3030Asn)
 ClinVar dbSNP
13g.32380073G>CCA387758094BRCA2c.9184G>C (p.Asp3062His)
c.*551G>C (n.*551G>C)
c.8815G>C (p.Asp2939His)
c.*746G>C (n.*746G>C)
c.9133G>C (p.Asp3045His)
c.1600G>C (p.Asp534His)
n.1311G>C
c.9192G>C (n.9192G>C)
c.2062G>C
c.67G>C (p.Asp23His)
c.141G>C
c.9088G>C (p.Asp3030His)
 ClinVar dbSNP
13g.32380073G=CA2082840587BRCA2c.9184G= (p.Asp3062=)
c.*551G= (n.*551G=)
c.8815G= (p.Asp2939=)
c.*746G= (n.*746G=)
c.9133G= (p.Asp3045=)
c.1600G= (p.Asp534=)
n.1311G=
c.9192G= (n.9192G=)
c.2062G=
c.67G= (p.Asp23=)
c.141G=
c.9088G= (p.Asp3030=)
13g.32380073G>TCA387758095BRCA2c.9184G>T (p.Asp3062Tyr)
c.*551G>T (n.*551G>T)
c.8815G>T (p.Asp2939Tyr)
c.*746G>T (n.*746G>T)
c.9133G>T (p.Asp3045Tyr)
c.1600G>T (p.Asp534Tyr)
n.1311G>T
c.9192G>T (n.9192G>T)
c.2062G>T
c.67G>T (p.Asp23Tyr)
c.141G>T
c.9088G>T (p.Asp3030Tyr)
 dbSNP
13g.32380074A>CCA387758102BRCA2c.9185A>C (p.Asp3062Ala)
c.*552A>C (n.*552A>C)
c.8816A>C (p.Asp2939Ala)
c.*747A>C (n.*747A>C)
c.9134A>C (p.Asp3045Ala)
c.1601A>C (p.Asp534Ala)
n.1312A>C
c.9193A>C (n.9193A>C)
c.2063A>C
c.68A>C (p.Asp23Ala)
c.142A>C
c.9089A>C (p.Asp3030Ala)
 dbSNP
13g.32380074A>GCA387758104BRCA2c.9185A>G (p.Asp3062Gly)
c.*552A>G (n.*552A>G)
c.8816A>G (p.Asp2939Gly)
c.*747A>G (n.*747A>G)
c.9134A>G (p.Asp3045Gly)
c.1601A>G (p.Asp534Gly)
n.1312A>G
c.9193A>G (n.9193A>G)
c.2063A>G
c.68A>G (p.Asp23Gly)
c.142A>G
c.9089A>G (p.Asp3030Gly)
 ClinVar
13g.32380074A>TCA387758106BRCA2c.9185A>T (p.Asp3062Val)
c.*552A>T (n.*552A>T)
c.8816A>T (p.Asp2939Val)
c.*747A>T (n.*747A>T)
c.9134A>T (p.Asp3045Val)
c.1601A>T (p.Asp534Val)
n.1312A>T
c.9193A>T (n.9193A>T)
c.2063A>T
c.68A>T (p.Asp23Val)
c.142A>T
c.9089A>T (p.Asp3030Val)
 dbSNP
13g.32380075T>ACA387758107BRCA2c.9186T>A (p.Asp3062Glu)
c.*553T>A (n.*553T>A)
c.8817T>A (p.Asp2939Glu)
c.*748T>A (n.*748T>A)
c.9135T>A (p.Asp3045Glu)
c.1602T>A (p.Asp534Glu)
n.1313T>A
c.9194T>A (n.9194T>A)
c.2064T>A
c.69T>A (p.Asp23Glu)
c.143T>A
c.9090T>A (p.Asp3030Glu)
13g.32380075T>CCA483262081BRCA2c.9186T>C (p.Asp3062=)
c.*553T>C (n.*553T>C)
c.8817T>C (p.Asp2939=)
c.*748T>C (n.*748T>C)
c.9135T>C (p.Asp3045=)
c.1602T>C (p.Asp534=)
n.1313T>C
c.9194T>C (n.9194T>C)
c.2064T>C
c.69T>C (p.Asp23=)
c.143T>C
c.9090T>C (p.Asp3030=)
13g.32380075T>GCA387758111BRCA2c.9186T>G (p.Asp3062Glu)
c.*553T>G (n.*553T>G)
c.8817T>G (p.Asp2939Glu)
c.*748T>G (n.*748T>G)
c.9135T>G (p.Asp3045Glu)
c.1602T>G (p.Asp534Glu)
n.1313T>G
c.9194T>G (n.9194T>G)
c.2064T>G
c.69T>G (p.Asp23Glu)
c.143T>G
c.9090T>G (p.Asp3030Glu)
13g.32380076C>ACA387758117BRCA2c.9187C>A (p.Pro3063Thr)
c.*554C>A (n.*554C>A)
c.8818C>A (p.Pro2940Thr)
c.*749C>A (n.*749C>A)
c.9136C>A (p.Pro3046Thr)
c.1603C>A (p.Pro535Thr)
n.1314C>A
c.9195C>A (n.9195C>A)
c.2065C>A
c.70C>A (p.Pro24Thr)
c.144C>A
c.9091C>A (p.Pro3031Thr)
 dbSNP
13g.32380076C=CA2082840591BRCA2c.9187C= (p.Pro3063=)
c.*554C= (n.*554C=)
c.8818C= (p.Pro2940=)
c.*749C= (n.*749C=)
c.9136C= (p.Pro3046=)
c.1603C= (p.Pro535=)
n.1314C=
c.9195C= (n.9195C=)
c.2065C=
c.70C= (p.Pro24=)
c.144C=
c.9091C= (p.Pro3031=)
13g.32380076C>GCA387758157BRCA2c.9187C>G (p.Pro3063Ala)
c.*554C>G (n.*554C>G)
c.8818C>G (p.Pro2940Ala)
c.*749C>G (n.*749C>G)
c.9136C>G (p.Pro3046Ala)
c.1603C>G (p.Pro535Ala)
n.1314C>G
c.9195C>G (n.9195C>G)
c.2065C>G
c.70C>G (p.Pro24Ala)
c.144C>G
c.9091C>G (p.Pro3031Ala)
 dbSNP
13g.32380076C>TCA026020BRCA2c.9187C>T (p.Pro3063Ser)
c.*554C>T (n.*554C>T)
c.8818C>T (p.Pro2940Ser)
c.*749C>T (n.*749C>T)
c.9136C>T (p.Pro3046Ser)
c.1603C>T (p.Pro535Ser)
n.1314C>T
c.9195C>T (n.9195C>T)
c.2065C>T
c.70C>T (p.Pro24Ser)
c.144C>T
c.9091C>T (p.Pro3031Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32380077delCA2695217962BRCA2c.9188del (p.Pro3063GlnfsTer12)
c.*555del (n.*555del)
c.8819del (p.Pro2940GlnfsTer12)
c.*750del (n.*750del)
c.9137del (p.Pro3046GlnfsTer12)
c.1604del (p.Pro535GlnfsTer12)
n.1315del
c.9196del (n.9196del)
c.2066del
c.71del (p.Pro24GlnfsTer12)
c.145del
c.9092del (p.Pro3031GlnfsTer12)
13g.32380077C>ACA387758163BRCA2c.9188C>A (p.Pro3063Gln)
c.*555C>A (n.*555C>A)
c.8819C>A (p.Pro2940Gln)
c.*750C>A (n.*750C>A)
c.9137C>A (p.Pro3046Gln)
c.1604C>A (p.Pro535Gln)
n.1315C>A
c.9196C>A (n.9196C>A)
c.2066C>A
c.71C>A (p.Pro24Gln)
c.145C>A
c.9092C>A (p.Pro3031Gln)
 dbSNP
13g.32380077C=CA2082840598BRCA2c.9188C= (p.Pro3063=)
c.*555C= (n.*555C=)
c.8819C= (p.Pro2940=)
c.*750C= (n.*750C=)
c.9137C= (p.Pro3046=)
c.1604C= (p.Pro535=)
n.1315C=
c.9196C= (n.9196C=)
c.2066C=
c.71C= (p.Pro24=)
c.145C=
c.9092C= (p.Pro3031=)
13g.32380077C>GCA387758165BRCA2c.9188C>G (p.Pro3063Arg)
c.*555C>G (n.*555C>G)
c.8819C>G (p.Pro2940Arg)
c.*750C>G (n.*750C>G)
c.9137C>G (p.Pro3046Arg)
c.1604C>G (p.Pro535Arg)
n.1315C>G
c.9196C>G (n.9196C>G)
c.2066C>G
c.71C>G (p.Pro24Arg)
c.145C>G
c.9092C>G (p.Pro3031Arg)
 ClinVar dbSNP
13g.32380077C>TCA387758168BRCA2c.9188C>T (p.Pro3063Leu)
c.*555C>T (n.*555C>T)
c.8819C>T (p.Pro2940Leu)
c.*750C>T (n.*750C>T)
c.9137C>T (p.Pro3046Leu)
c.1604C>T (p.Pro535Leu)
n.1315C>T
c.9196C>T (n.9196C>T)
c.2066C>T
c.71C>T (p.Pro24Leu)
c.145C>T
c.9092C>T (p.Pro3031Leu)
 dbSNP
13g.32380078A>CCA483262084BRCA2c.9189A>C (p.Pro3063=)
c.*556A>C (n.*556A>C)
c.8820A>C (p.Pro2940=)
c.*751A>C (n.*751A>C)
c.9138A>C (p.Pro3046=)
c.1605A>C (p.Pro535=)
n.1316A>C
c.9197A>C (n.9197A>C)
c.2067A>C
c.72A>C (p.Pro24=)
c.146A>C
c.9093A>C (p.Pro3031=)
13g.32380078A>GCA483262087BRCA2c.9189A>G (p.Pro3063=)
c.*556A>G (n.*556A>G)
c.8820A>G (p.Pro2940=)
c.*751A>G (n.*751A>G)
c.9138A>G (p.Pro3046=)
c.1605A>G (p.Pro535=)
n.1316A>G
c.9197A>G (n.9197A>G)
c.2067A>G
c.72A>G (p.Pro24=)
c.146A>G
c.9093A>G (p.Pro3031=)
 dbSNP
13g.32380078A>TCA483262085BRCA2c.9189A>T (p.Pro3063=)
c.*556A>T (n.*556A>T)
c.8820A>T (p.Pro2940=)
c.*751A>T (n.*751A>T)
c.9138A>T (p.Pro3046=)
c.1605A>T (p.Pro535=)
n.1316A>T
c.9197A>T (n.9197A>T)
c.2067A>T
c.72A>T (p.Pro24=)
c.146A>T
c.9093A>T (p.Pro3031=)
 dbSNP
13g.32380079G>ACA026023BRCA2c.9190G>A (p.Asp3064Asn)
c.*557G>A (n.*557G>A)
c.8821G>A (p.Asp2941Asn)
c.*752G>A (n.*752G>A)
c.9139G>A (p.Asp3047Asn)
c.1606G>A (p.Asp536Asn)
n.1317G>A
c.9198G>A (n.9198G>A)
c.2068G>A
c.73G>A (p.Asp25Asn)
c.147G>A
c.9094G>A (p.Asp3032Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32380079G>CCA387758170BRCA2c.9190G>C (p.Asp3064His)
c.*557G>C (n.*557G>C)
c.8821G>C (p.Asp2941His)
c.*752G>C (n.*752G>C)
c.9139G>C (p.Asp3047His)
c.1606G>C (p.Asp536His)
n.1317G>C
c.9198G>C (n.9198G>C)
c.2068G>C
c.73G>C (p.Asp25His)
c.147G>C
c.9094G>C (p.Asp3032His)
 ClinVar dbSNP
13g.32380079G=CA2082840614BRCA2c.9190G= (p.Asp3064=)
c.*557G= (n.*557G=)
c.8821G= (p.Asp2941=)
c.*752G= (n.*752G=)
c.9139G= (p.Asp3047=)
c.1606G= (p.Asp536=)
n.1317G=
c.9198G= (n.9198G=)
c.2068G=
c.73G= (p.Asp25=)
c.147G=
c.9094G= (p.Asp3032=)
13g.32380079G>TCA026024BRCA2c.9190G>T (p.Asp3064Tyr)
c.*557G>T (n.*557G>T)
c.8821G>T (p.Asp2941Tyr)
c.*752G>T (n.*752G>T)
c.9139G>T (p.Asp3047Tyr)
c.1606G>T (p.Asp536Tyr)
n.1317G>T
c.9198G>T (n.9198G>T)
c.2068G>T
c.73G>T (p.Asp25Tyr)
c.147G>T
c.9094G>T (p.Asp3032Tyr)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
13g.32380080delCA2499222369BRCA2c.9191del (p.Asp3064AlafsTer11)
c.*558del (n.*558del)
c.8822del (p.Asp2941AlafsTer11)
c.*753del (n.*753del)
c.9140del (p.Asp3047AlafsTer11)
c.1607del (p.Asp536AlafsTer11)
n.1318del
c.9199del (n.9199del)
c.2069del
c.74del (p.Asp25AlafsTer11)
c.148del
c.9095del (p.Asp3032AlafsTer11)
 ClinVar dbSNP
13g.32380080A=CA2082840624BRCA2c.9191A= (p.Asp3064=)
c.*558A= (n.*558A=)
c.8822A= (p.Asp2941=)
c.*753A= (n.*753A=)
c.9140A= (p.Asp3047=)
c.1607A= (p.Asp536=)
n.1318A=
c.9199A= (n.9199A=)
c.2069A=
c.74A= (p.Asp25=)
c.148A=
c.9095A= (p.Asp3032=)
13g.32380080A>CCA387758181BRCA2c.9191A>C (p.Asp3064Ala)
c.*558A>C (n.*558A>C)
c.8822A>C (p.Asp2941Ala)
c.*753A>C (n.*753A>C)
c.9140A>C (p.Asp3047Ala)
c.1607A>C (p.Asp536Ala)
n.1318A>C
c.9199A>C (n.9199A>C)
c.2069A>C
c.74A>C (p.Asp25Ala)
c.148A>C
c.9095A>C (p.Asp3032Ala)
 dbSNP
13g.32380080A>GCA16619788BRCA2c.9191A>G (p.Asp3064Gly)
c.*558A>G (n.*558A>G)
c.8822A>G (p.Asp2941Gly)
c.*753A>G (n.*753A>G)
c.9140A>G (p.Asp3047Gly)
c.1607A>G (p.Asp536Gly)
n.1318A>G
c.9199A>G (n.9199A>G)
c.2069A>G
c.74A>G (p.Asp25Gly)
c.148A>G
c.9095A>G (p.Asp3032Gly)
 ClinVar dbSNP
13g.32380080A>TCA387758187BRCA2c.9191A>T (p.Asp3064Val)
c.*558A>T (n.*558A>T)
c.8822A>T (p.Asp2941Val)
c.*753A>T (n.*753A>T)
c.9140A>T (p.Asp3047Val)
c.1607A>T (p.Asp536Val)
n.1318A>T
c.9199A>T (n.9199A>T)
c.2069A>T
c.74A>T (p.Asp25Val)
c.148A>T
c.9095A>T (p.Asp3032Val)
 dbSNP
13g.32380081C>ACA387758194BRCA2c.9192C>A (p.Asp3064Glu)
c.*559C>A (n.*559C>A)
c.8823C>A (p.Asp2941Glu)
c.*754C>A (n.*754C>A)
c.9141C>A (p.Asp3047Glu)
c.1608C>A (p.Asp536Glu)
n.1319C>A
c.9200C>A (n.9200C>A)
c.2070C>A
c.75C>A (p.Asp25Glu)
c.149C>A
c.9096C>A (p.Asp3032Glu)
13g.32380081C=CA2082840630BRCA2c.9192C= (p.Asp3064=)
c.*559C= (n.*559C=)
c.8823C= (p.Asp2941=)
c.*754C= (n.*754C=)
c.9141C= (p.Asp3047=)
c.1608C= (p.Asp536=)
n.1319C=
c.9200C= (n.9200C=)
c.2070C=
c.75C= (p.Asp25=)
c.149C=
c.9096C= (p.Asp3032=)
13g.32380081C>GCA387758189BRCA2c.9192C>G (p.Asp3064Glu)
c.*559C>G (n.*559C>G)
c.8823C>G (p.Asp2941Glu)
c.*754C>G (n.*754C>G)
c.9141C>G (p.Asp3047Glu)
c.1608C>G (p.Asp536Glu)
n.1319C>G
c.9200C>G (n.9200C>G)
c.2070C>G
c.75C>G (p.Asp25Glu)
c.149C>G
c.9096C>G (p.Asp3032Glu)
 dbSNP
13g.32380081C>TCA247494884BRCA2c.9192C>T (p.Asp3064=)
c.*559C>T (n.*559C>T)
c.8823C>T (p.Asp2941=)
c.*754C>T (n.*754C>T)
c.9141C>T (p.Asp3047=)
c.1608C>T (p.Asp536=)
n.1319C>T
c.9200C>T (n.9200C>T)
c.2070C>T
c.75C>T (p.Asp25=)
c.149C>T
c.9096C>T (p.Asp3032=)
 ClinVar dbSNP gnomAD v4
13g.32380081_32380083delinsCTTCA2082840628BRCA2c.9192_9194delinsCTT (p.Asp3064=)
c.*559_*561delinsCTT (n.*559_*561delinsCTT)
c.8823_8825delinsCTT (p.Asp2941=)
c.*754_*756delinsCTT (n.*754_*756delinsCTT)
c.9141_9143delinsCTT (p.Asp3047=)
c.1608_1610delinsCTT (p.Asp536=)
n.1319_1321delinsCTT
c.9200_9202delinsCTT (n.9200_9202delinsCTT)
c.2070_2072delinsCTT
c.75_77delinsCTT (p.Asp25=)
c.149_151delinsCTT
c.9096_9098delinsCTT (p.Asp3032=)
13g.32380082T>ACA387758198BRCA2c.9193T>A (p.Phe3065Ile)
c.*560T>A (n.*560T>A)
c.8824T>A (p.Phe2942Ile)
c.*755T>A (n.*755T>A)
c.9142T>A (p.Phe3048Ile)
c.1609T>A (p.Phe537Ile)
n.1320T>A
c.9201T>A (n.9201T>A)
c.2071T>A
c.76T>A (p.Phe26Ile)
c.150T>A
c.9097T>A (p.Phe3033Ile)
 dbSNP
13g.32380082T>CCA387758212BRCA2c.9193T>C (p.Phe3065Leu)
c.*560T>C (n.*560T>C)
c.8824T>C (p.Phe2942Leu)
c.*755T>C (n.*755T>C)
c.9142T>C (p.Phe3048Leu)
c.1609T>C (p.Phe537Leu)
n.1320T>C
c.9201T>C (n.9201T>C)
c.2071T>C
c.76T>C (p.Phe26Leu)
c.150T>C
c.9097T>C (p.Phe3033Leu)
13g.32380082T>GCA387758213BRCA2c.9193T>G (p.Phe3065Val)
c.*560T>G (n.*560T>G)
c.8824T>G (p.Phe2942Val)
c.*755T>G (n.*755T>G)
c.9142T>G (p.Phe3048Val)
c.1609T>G (p.Phe537Val)
n.1320T>G
c.9201T>G (n.9201T>G)
c.2071T>G
c.76T>G (p.Phe26Val)
c.150T>G
c.9097T>G (p.Phe3033Val)
 ClinVar dbSNP
13g.32380082T=CA2082840642BRCA2c.9193T= (p.Phe3065=)
c.*560T= (n.*560T=)
c.8824T= (p.Phe2942=)
c.*755T= (n.*755T=)
c.9142T= (p.Phe3048=)
c.1609T= (p.Phe537=)
n.1320T=
c.9201T= (n.9201T=)
c.2071T=
c.76T= (p.Phe26=)
c.150T=
c.9097T= (p.Phe3033=)
13g.32380084delCA1139663168BRCA2c.9195del (p.Gln3066SerfsTer9)
c.*562del (n.*562del)
c.8826del (p.Gln2943SerfsTer9)
c.*757del (n.*757del)
c.9144del (p.Gln3049SerfsTer9)
c.1611del (p.Gln538SerfsTer9)
n.1322del
c.9203del (n.9203del)
c.2073del
c.78del (p.Gln27SerfsTer9)
c.152del
c.9099del (p.Gln3034SerfsTer9)
 ClinVar dbSNP
13g.32380083_32380084delCA026025BRCA2c.9194_9195del (p.Phe3065SerfsTer6)
c.*561_*562del (n.*561_*562del)
c.8825_8826del (p.Phe2942SerfsTer6)
c.*756_*757del (n.*756_*757del)
c.9143_9144del (p.Phe3048SerfsTer6)
c.1610_1611del (p.Phe537SerfsTer6)
n.1321_1322del
c.9202_9203del (n.9202_9203del)
c.2072_2073del
c.77_78del (p.Phe26SerfsTer6)
c.151_152del
c.9098_9099del (p.Phe3033SerfsTer6)
 ClinVar dbSNP
13g.32380082_32380083insACA658823633BRCA2c.9193_9194insA (p.Phe3065TyrfsTer7)
c.*560_*561insA (n.*560_*561insA)
c.8824_8825insA (p.Phe2942TyrfsTer7)
c.*755_*756insA (n.*755_*756insA)
c.9142_9143insA (p.Phe3048TyrfsTer7)
c.1609_1610insA (p.Phe537TyrfsTer7)
n.1320_1321insA
c.9201_9202insA (n.9201_9202insA)
c.2071_2072insA
c.76_77insA (p.Phe26TyrfsTer7)
c.150_151insA
c.9097_9098insA (p.Phe3033TyrfsTer7)
 ClinVar dbSNP
13g.32380083T>ACA387758217BRCA2c.9194T>A (p.Phe3065Tyr)
c.*561T>A (n.*561T>A)
c.8825T>A (p.Phe2942Tyr)
c.*756T>A (n.*756T>A)
c.9143T>A (p.Phe3048Tyr)
c.1610T>A (p.Phe537Tyr)
n.1321T>A
c.9202T>A (n.9202T>A)
c.2072T>A
c.77T>A (p.Phe26Tyr)
c.151T>A
c.9098T>A (p.Phe3033Tyr)
 dbSNP
13g.32380083T>CCA387758219BRCA2c.9194T>C (p.Phe3065Ser)
c.*561T>C (n.*561T>C)
c.8825T>C (p.Phe2942Ser)
c.*756T>C (n.*756T>C)
c.9143T>C (p.Phe3048Ser)
c.1610T>C (p.Phe537Ser)
n.1321T>C
c.9202T>C (n.9202T>C)
c.2072T>C
c.77T>C (p.Phe26Ser)
c.151T>C
c.9098T>C (p.Phe3033Ser)
 gnomAD v4
13g.32380083T>GCA387758222BRCA2c.9194T>G (p.Phe3065Cys)
c.*561T>G (n.*561T>G)
c.8825T>G (p.Phe2942Cys)
c.*756T>G (n.*756T>G)
c.9143T>G (p.Phe3048Cys)
c.1610T>G (p.Phe537Cys)
n.1321T>G
c.9202T>G (n.9202T>G)
c.2072T>G
c.77T>G (p.Phe26Cys)
c.151T>G
c.9098T>G (p.Phe3033Cys)
13g.32380083T=CA2082840654BRCA2c.9194T= (p.Phe3065=)
c.*561T= (n.*561T=)
c.8825T= (p.Phe2942=)
c.*756T= (n.*756T=)
c.9143T= (p.Phe3048=)
c.1610T= (p.Phe537=)
n.1321T=
c.9202T= (n.9202T=)
c.2072T=
c.77T= (p.Phe26=)
c.151T=
c.9098T= (p.Phe3033=)
13g.32380083_32380084insACA658653816BRCA2c.9194_9195insA (p.Phe3065LeufsTer7)
c.*561_*562insA (n.*561_*562insA)
c.8825_8826insA (p.Phe2942LeufsTer7)
c.*756_*757insA (n.*756_*757insA)
c.9143_9144insA (p.Phe3048LeufsTer7)
c.1610_1611insA (p.Phe537LeufsTer7)
n.1321_1322insA
c.9202_9203insA (n.9202_9203insA)
c.2072_2073insA
c.77_78insA (p.Phe26LeufsTer7)
c.151_152insA
c.9098_9099insA (p.Phe3033LeufsTer7)
 ClinVar dbSNP
13g.32380084T>ACA026026BRCA2c.9195T>A (p.Phe3065Leu)
c.*562T>A (n.*562T>A)
c.8826T>A (p.Phe2942Leu)
c.*757T>A (n.*757T>A)
c.9144T>A (p.Phe3048Leu)
c.1611T>A (p.Phe537Leu)
n.1322T>A
c.9203T>A (n.9203T>A)
c.2073T>A
c.78T>A (p.Phe26Leu)
c.152T>A
c.9099T>A (p.Phe3033Leu)
 ClinVar dbSNP gnomAD v4
13g.32380084T>CCA10579814BRCA2c.9195T>C (p.Phe3065=)
c.*562T>C (n.*562T>C)
c.8826T>C (p.Phe2942=)
c.*757T>C (n.*757T>C)
c.9144T>C (p.Phe3048=)
c.1611T>C (p.Phe537=)
n.1322T>C
c.9203T>C (n.9203T>C)
c.2073T>C
c.78T>C (p.Phe26=)
c.152T>C
c.9099T>C (p.Phe3033=)
 ClinVar dbSNP
13g.32380084T>GCA387758230BRCA2c.9195T>G (p.Phe3065Leu)
c.*562T>G (n.*562T>G)
c.8826T>G (p.Phe2942Leu)
c.*757T>G (n.*757T>G)
c.9144T>G (p.Phe3048Leu)
c.1611T>G (p.Phe537Leu)
n.1322T>G
c.9203T>G (n.9203T>G)
c.2073T>G
c.78T>G (p.Phe26Leu)
c.152T>G
c.9099T>G (p.Phe3033Leu)
13g.32380084T=CA2082840684BRCA2c.9195T= (p.Phe3065=)
c.*562T= (n.*562T=)
c.8826T= (p.Phe2942=)
c.*757T= (n.*757T=)
c.9144T= (p.Phe3048=)
c.1611T= (p.Phe537=)
n.1322T=
c.9203T= (n.9203T=)
c.2073T=
c.78T= (p.Phe26=)
c.152T=
c.9099T= (p.Phe3033=)
13g.32380084_32380085delinsATCA10579815BRCA2c.9195_9196delinsAT (p.Phe3065LeufsTer2)
c.*562_*563delinsAT (n.*562_*563delinsAT)
c.8826_8827delinsAT (p.Phe2942LeufsTer2)
c.*757_*758delinsAT (n.*757_*758delinsAT)
c.9144_9145delinsAT (p.Phe3048LeufsTer2)
c.1611_1612delinsAT (p.Phe537LeufsTer2)
n.1322_1323delinsAT
c.9203_9204delinsAT (n.9203_9204delinsAT)
c.2073_2074delinsAT
c.78_79delinsAT (p.Phe26LeufsTer2)
c.152_153delinsAT
c.9099_9100delinsAT (p.Phe3033LeufsTer2)
 ClinVar dbSNP
13g.32380084_32380085delinsTCCA2082840676BRCA2c.9195_9196delinsTC (p.Phe3065=)
c.*562_*563delinsTC (n.*562_*563delinsTC)
c.8826_8827delinsTC (p.Phe2942=)
c.*757_*758delinsTC (n.*757_*758delinsTC)
c.9144_9145delinsTC (p.Phe3048=)
c.1611_1612delinsTC (p.Phe537=)
n.1322_1323delinsTC
c.9203_9204delinsTC (n.9203_9204delinsTC)
c.2073_2074delinsTC
c.78_79delinsTC (p.Phe26=)
c.152_153delinsTC
c.9099_9100delinsTC (p.Phe3033=)
13g.32380085C>ACA10583151BRCA2c.9196C>A (p.Gln3066Lys)
c.*563C>A (n.*563C>A)
c.8827C>A (p.Gln2943Lys)
c.*758C>A (n.*758C>A)
c.9145C>A (p.Gln3049Lys)
c.1612C>A (p.Gln538Lys)
n.1323C>A
c.9204C>A (n.9204C>A)
c.2074C>A
c.79C>A (p.Gln27Lys)
c.153C>A
c.9100C>A (p.Gln3034Lys)
 ClinVar dbSNP
13g.32380085C=CA2082840698BRCA2c.9196C= (p.Gln3066=)
c.*563C= (n.*563C=)
c.8827C= (p.Gln2943=)
c.*758C= (n.*758C=)
c.9145C= (p.Gln3049=)
c.1612C= (p.Gln538=)
n.1323C=
c.9204C= (n.9204C=)
c.2074C=
c.79C= (p.Gln27=)
c.153C=
c.9100C= (p.Gln3034=)
13g.32380085C>GCA026027BRCA2c.9196C>G (p.Gln3066Glu)
c.*563C>G (n.*563C>G)
c.8827C>G (p.Gln2943Glu)
c.*758C>G (n.*758C>G)
c.9145C>G (p.Gln3049Glu)
c.1612C>G (p.Gln538Glu)
n.1323C>G
c.9204C>G (n.9204C>G)
c.2074C>G
c.79C>G (p.Gln27Glu)
c.153C>G
c.9100C>G (p.Gln3034Glu)
 ClinVar dbSNP gnomAD v4
13g.32380085C>TCA026028BRCA2c.9196C>T (p.Gln3066Ter)
c.*563C>T (n.*563C>T)
c.8827C>T (p.Gln2943Ter)
c.*758C>T (n.*758C>T)
c.9145C>T (p.Gln3049Ter)
c.1612C>T (p.Gln538Ter)
n.1323C>T
c.9204C>T (n.9204C>T)
c.2074C>T
c.79C>T (p.Gln27Ter)
c.153C>T
c.9100C>T (p.Gln3034Ter)
 ClinVar dbSNP gnomAD v4
13g.32380086A>CCA387758235BRCA2c.9197A>C (p.Gln3066Pro)
c.*564A>C (n.*564A>C)
c.8828A>C (p.Gln2943Pro)
c.*759A>C (n.*759A>C)
c.9146A>C (p.Gln3049Pro)
c.1613A>C (p.Gln538Pro)
n.1324A>C
c.9205A>C (n.9205A>C)
c.2075A>C
c.80A>C (p.Gln27Pro)
c.154A>C
c.9101A>C (p.Gln3034Pro)
13g.32380086A>GCA387758236BRCA2c.9197A>G (p.Gln3066Arg)
c.*564A>G (n.*564A>G)
c.8828A>G (p.Gln2943Arg)
c.*759A>G (n.*759A>G)
c.9146A>G (p.Gln3049Arg)
c.1613A>G (p.Gln538Arg)
n.1324A>G
c.9205A>G (n.9205A>G)
c.2075A>G
c.80A>G (p.Gln27Arg)
c.154A>G
c.9101A>G (p.Gln3034Arg)
 dbSNP gnomAD v4
13g.32380086A>TCA387758239BRCA2c.9197A>T (p.Gln3066Leu)
c.*564A>T (n.*564A>T)
c.8828A>T (p.Gln2943Leu)
c.*759A>T (n.*759A>T)
c.9146A>T (p.Gln3049Leu)
c.1613A>T (p.Gln538Leu)
n.1324A>T
c.9205A>T (n.9205A>T)
c.2075A>T
c.80A>T (p.Gln27Leu)
c.154A>T
c.9101A>T (p.Gln3034Leu)
 dbSNP
13g.32380087G>ACA483262092BRCA2c.9198G>A (p.Gln3066=)
c.*565G>A (n.*565G>A)
c.8829G>A (p.Gln2943=)
c.*760G>A (n.*760G>A)
c.9147G>A (p.Gln3049=)
c.1614G>A (p.Gln538=)
n.1325G>A
c.9206G>A (n.9206G>A)
c.2076G>A
c.81G>A (p.Gln27=)
c.155G>A
c.9102G>A (p.Gln3034=)
 ClinVar dbSNP gnomAD v4
13g.32380087G>CCA6941353BRCA2c.9198G>C (p.Gln3066His)
c.*565G>C (n.*565G>C)
c.8829G>C (p.Gln2943His)
c.*760G>C (n.*760G>C)
c.9147G>C (p.Gln3049His)
c.1614G>C (p.Gln538His)
n.1325G>C
c.9206G>C (n.9206G>C)
c.2076G>C
c.81G>C (p.Gln27His)
c.155G>C
c.9102G>C (p.Gln3034His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32380087G=CA2082840713BRCA2c.9198G= (p.Gln3066=)
c.*565G= (n.*565G=)
c.8829G= (p.Gln2943=)
c.*760G= (n.*760G=)
c.9147G= (p.Gln3049=)
c.1614G= (p.Gln538=)
n.1325G=
c.9206G= (n.9206G=)
c.2076G=
c.81G= (p.Gln27=)
c.155G=
c.9102G= (p.Gln3034=)
13g.32380087G>TCA387758241BRCA2c.9198G>T (p.Gln3066His)
c.*565G>T (n.*565G>T)
c.8829G>T (p.Gln2943His)
c.*760G>T (n.*760G>T)
c.9147G>T (p.Gln3049His)
c.1614G>T (p.Gln538His)
n.1325G>T
c.9206G>T (n.9206G>T)
c.2076G>T
c.81G>T (p.Gln27His)
c.155G>T
c.9102G>T (p.Gln3034His)
 dbSNP
13g.32380088C>ACA387758248BRCA2c.9199C>A (p.Pro3067Thr)
c.*566C>A (n.*566C>A)
c.8830C>A (p.Pro2944Thr)
c.*761C>A (n.*761C>A)
c.9148C>A (p.Pro3050Thr)
c.1615C>A (p.Pro539Thr)
n.1326C>A
c.9207C>A (n.9207C>A)
c.2077C>A
c.82C>A (p.Pro28Thr)
c.156C>A
c.9103C>A (p.Pro3035Thr)
 dbSNP
13g.32380088C=CA2082840724BRCA2c.9199C= (p.Pro3067=)
c.*566C= (n.*566C=)
c.8830C= (p.Pro2944=)
c.*761C= (n.*761C=)
c.9148C= (p.Pro3050=)
c.1615C= (p.Pro539=)
n.1326C=
c.9207C= (n.9207C=)
c.2077C=
c.82C= (p.Pro28=)
c.156C=
c.9103C= (p.Pro3035=)
13g.32380088C>GCA387758252BRCA2c.9199C>G (p.Pro3067Ala)
c.*566C>G (n.*566C>G)
c.8830C>G (p.Pro2944Ala)
c.*761C>G (n.*761C>G)
c.9148C>G (p.Pro3050Ala)
c.1615C>G (p.Pro539Ala)
n.1326C>G
c.9207C>G (n.9207C>G)
c.2077C>G
c.82C>G (p.Pro28Ala)
c.156C>G
c.9103C>G (p.Pro3035Ala)
 dbSNP
13g.32380088C>TCA6941354BRCA2c.9199C>T (p.Pro3067Ser)
c.*566C>T (n.*566C>T)
c.8830C>T (p.Pro2944Ser)
c.*761C>T (n.*761C>T)
c.9148C>T (p.Pro3050Ser)
c.1615C>T (p.Pro539Ser)
n.1326C>T
c.9207C>T (n.9207C>T)
c.2077C>T
c.82C>T (p.Pro28Ser)
c.156C>T
c.9103C>T (p.Pro3035Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32380089C>ACA387758260BRCA2c.9200C>A (p.Pro3067Gln)
c.*567C>A (n.*567C>A)
c.8831C>A (p.Pro2944Gln)
c.*762C>A (n.*762C>A)
c.9149C>A (p.Pro3050Gln)
c.1616C>A (p.Pro539Gln)
n.1327C>A
c.9208C>A (n.9208C>A)
c.2078C>A
c.83C>A (p.Pro28Gln)
c.157C>A
c.9104C>A (p.Pro3035Gln)
 dbSNP
13g.32380089C>GCA387758262BRCA2c.9200C>G (p.Pro3067Arg)
c.*567C>G (n.*567C>G)
c.8831C>G (p.Pro2944Arg)
c.*762C>G (n.*762C>G)
c.9149C>G (p.Pro3050Arg)
c.1616C>G (p.Pro539Arg)
n.1327C>G
c.9208C>G (n.9208C>G)
c.2078C>G
c.83C>G (p.Pro28Arg)
c.157C>G
c.9104C>G (p.Pro3035Arg)
 dbSNP
13g.32380089C>TCA387758274BRCA2c.9200C>T (p.Pro3067Leu)
c.*567C>T (n.*567C>T)
c.8831C>T (p.Pro2944Leu)
c.*762C>T (n.*762C>T)
c.9149C>T (p.Pro3050Leu)
c.1616C>T (p.Pro539Leu)
n.1327C>T
c.9208C>T (n.9208C>T)
c.2078C>T
c.83C>T (p.Pro28Leu)
c.157C>T
c.9104C>T (p.Pro3035Leu)
 ClinVar dbSNP
13g.32380090_32380092delCA2580087509BRCA2c.9201_9203del (p.Ser3068del)
c.*568_*570del (n.*568_*570del)
c.8832_8834del (p.Ser2945del)
c.*763_*765del (n.*763_*765del)
c.9150_9152del (p.Ser3051del)
c.1617_1619del (p.Ser540del)
n.1328_1330del
c.9209_9211del (n.9209_9211del)
c.2079_2081del
c.84_86del (p.Ser29del)
c.158_160del
c.9105_9107del (p.Ser3036del)
 ClinVar
13g.32380089_32380090insCTCA2499222370BRCA2c.9200_9201insCT (p.Ser3068TyrfsTer8)
c.*567_*568insCT (n.*567_*568insCT)
c.8831_8832insCT (p.Ser2945TyrfsTer8)
c.*762_*763insCT (n.*762_*763insCT)
c.9149_9150insCT (p.Ser3051TyrfsTer8)
c.1616_1617insCT (p.Ser540TyrfsTer8)
n.1327_1328insCT
c.9208_9209insCT (n.9208_9209insCT)
c.2078_2079insCT
c.83_84insCT (p.Ser29TyrfsTer8)
c.157_158insCT
c.9104_9105insCT (p.Ser3036TyrfsTer8)
 ClinVar dbSNP
13g.32380090A=CA2082840737BRCA2c.9201A= (p.Pro3067=)
c.*568A= (n.*568A=)
c.8832A= (p.Pro2944=)
c.*763A= (n.*763A=)
c.9150A= (p.Pro3050=)
c.1617A= (p.Pro539=)
n.1328A=
c.9209A= (n.9209A=)
c.2079A=
c.84A= (p.Pro28=)
c.158A=
c.9105A= (p.Pro3035=)
13g.32380090A>CCA483262093BRCA2c.9201A>C (p.Pro3067=)
c.*568A>C (n.*568A>C)
c.8832A>C (p.Pro2944=)
c.*763A>C (n.*763A>C)
c.9150A>C (p.Pro3050=)
c.1617A>C (p.Pro539=)
n.1328A>C
c.9209A>C (n.9209A>C)
c.2079A>C
c.84A>C (p.Pro28=)
c.158A>C
c.9105A>C (p.Pro3035=)
13g.32380090A>GCA6941355BRCA2c.9201A>G (p.Pro3067=)
c.*568A>G (n.*568A>G)
c.8832A>G (p.Pro2944=)
c.*763A>G (n.*763A>G)
c.9150A>G (p.Pro3050=)
c.1617A>G (p.Pro539=)
n.1328A>G
c.9209A>G (n.9209A>G)
c.2079A>G
c.84A>G (p.Pro28=)
c.158A>G
c.9105A>G (p.Pro3035=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32380090A>TCA483262094BRCA2c.9201A>T (p.Pro3067=)
c.*568A>T (n.*568A>T)
c.8832A>T (p.Pro2944=)
c.*763A>T (n.*763A>T)
c.9150A>T (p.Pro3050=)
c.1617A>T (p.Pro539=)
n.1328A>T
c.9209A>T (n.9209A>T)
c.2079A>T
c.84A>T (p.Pro28=)
c.158A>T
c.9105A>T (p.Pro3035=)
 dbSNP
13g.32380091T>ACA387758279BRCA2c.9202T>A (p.Ser3068Thr)
c.*569T>A (n.*569T>A)
c.8833T>A (p.Ser2945Thr)
c.*764T>A (n.*764T>A)
c.9151T>A (p.Ser3051Thr)
c.1618T>A (p.Ser540Thr)
n.1329T>A
c.9210T>A (n.9210T>A)
c.2080T>A
c.85T>A (p.Ser29Thr)
c.159T>A
c.9106T>A (p.Ser3036Thr)
13g.32380091T>CCA387758280BRCA2c.9202T>C (p.Ser3068Pro)
c.*569T>C (n.*569T>C)
c.8833T>C (p.Ser2945Pro)
c.*764T>C (n.*764T>C)
c.9151T>C (p.Ser3051Pro)
c.1618T>C (p.Ser540Pro)
n.1329T>C
c.9210T>C (n.9210T>C)
c.2080T>C
c.85T>C (p.Ser29Pro)
c.159T>C
c.9106T>C (p.Ser3036Pro)
13g.32380091T>GCA387758281BRCA2c.9202T>G (p.Ser3068Ala)
c.*569T>G (n.*569T>G)
c.8833T>G (p.Ser2945Ala)
c.*764T>G (n.*764T>G)
c.9151T>G (p.Ser3051Ala)
c.1618T>G (p.Ser540Ala)
n.1329T>G
c.9210T>G (n.9210T>G)
c.2080T>G
c.85T>G (p.Ser29Ala)
c.159T>G
c.9106T>G (p.Ser3036Ala)
13g.32380092_32380093dupCA2695217963BRCA2c.9203_9204dup (p.Cys3069LeufsTer7)
c.*570_*571dup (n.*570_*571dup)
c.8834_8835dup (p.Cys2946LeufsTer7)
c.*765_*766dup (n.*765_*766dup)
c.9152_9153dup (p.Cys3052LeufsTer7)
c.1619_1620dup (p.Cys541LeufsTer7)
n.1330_1331dup
c.9211_9212dup (n.9211_9212dup)
c.2081_2082dup
c.86_87dup (p.Cys30LeufsTer7)
c.160_161dup
c.9107_9108dup (p.Cys3037LeufsTer7)
13g.32380092C>ACA387758282BRCA2c.9203C>A (p.Ser3068Tyr)
c.*570C>A (n.*570C>A)
c.8834C>A (p.Ser2945Tyr)
c.*765C>A (n.*765C>A)
c.9152C>A (p.Ser3051Tyr)
c.1619C>A (p.Ser540Tyr)
n.1330C>A
c.9211C>A (n.9211C>A)
c.2081C>A
c.86C>A (p.Ser29Tyr)
c.160C>A
c.9107C>A (p.Ser3036Tyr)
13g.32380092C>GCA387758283BRCA2c.9203C>G (p.Ser3068Cys)
c.*570C>G (n.*570C>G)
c.8834C>G (p.Ser2945Cys)
c.*765C>G (n.*765C>G)
c.9152C>G (p.Ser3051Cys)
c.1619C>G (p.Ser540Cys)
n.1330C>G
c.9211C>G (n.9211C>G)
c.2081C>G
c.86C>G (p.Ser29Cys)
c.160C>G
c.9107C>G (p.Ser3036Cys)
 dbSNP
13g.32380092C>TCA387758284BRCA2c.9203C>T (p.Ser3068Phe)
c.*570C>T (n.*570C>T)
c.8834C>T (p.Ser2945Phe)
c.*765C>T (n.*765C>T)
c.9152C>T (p.Ser3051Phe)
c.1619C>T (p.Ser540Phe)
n.1330C>T
c.9211C>T (n.9211C>T)
c.2081C>T
c.86C>T (p.Ser29Phe)
c.160C>T
c.9107C>T (p.Ser3036Phe)
 dbSNP
13g.32380093T>ACA483262095BRCA2c.9204T>A (p.Ser3068=)
c.*571T>A (n.*571T>A)
c.8835T>A (p.Ser2945=)
c.*766T>A (n.*766T>A)
c.9153T>A (p.Ser3051=)
c.1620T>A (p.Ser540=)
n.1331T>A
c.9212T>A (n.9212T>A)
c.2082T>A
c.87T>A (p.Ser29=)
c.161T>A
c.9108T>A (p.Ser3036=)
 dbSNP
13g.32380093T>CCA483262096BRCA2c.9204T>C (p.Ser3068=)
c.*571T>C (n.*571T>C)
c.8835T>C (p.Ser2945=)
c.*766T>C (n.*766T>C)
c.9153T>C (p.Ser3051=)
c.1620T>C (p.Ser540=)
n.1331T>C
c.9212T>C (n.9212T>C)
c.2082T>C
c.87T>C (p.Ser29=)
c.161T>C
c.9108T>C (p.Ser3036=)
13g.32380093T>GCA483262098BRCA2c.9204T>G (p.Ser3068=)
c.*571T>G (n.*571T>G)
c.8835T>G (p.Ser2945=)
c.*766T>G (n.*766T>G)
c.9153T>G (p.Ser3051=)
c.1620T>G (p.Ser540=)
n.1331T>G
c.9212T>G (n.9212T>G)
c.2082T>G
c.87T>G (p.Ser29=)
c.161T>G
c.9108T>G (p.Ser3036=)
 ClinVar dbSNP
13g.32380094T>ACA387758288BRCA2c.9205T>A (p.Cys3069Ser)
c.*572T>A (n.*572T>A)
c.8836T>A (p.Cys2946Ser)
c.*767T>A (n.*767T>A)
c.9154T>A (p.Cys3052Ser)
c.1621T>A (p.Cys541Ser)
n.1332T>A
c.9213T>A (n.9213T>A)
c.2083T>A
c.88T>A (p.Cys30Ser)
c.162T>A
c.9109T>A (p.Cys3037Ser)
13g.32380094T>CCA026030BRCA2c.9205T>C (p.Cys3069Arg)
c.*572T>C (n.*572T>C)
c.8836T>C (p.Cys2946Arg)
c.*767T>C (n.*767T>C)
c.9154T>C (p.Cys3052Arg)
c.1621T>C (p.Cys541Arg)
n.1332T>C
c.9213T>C (n.9213T>C)
c.2083T>C
c.88T>C (p.Cys30Arg)
c.162T>C
c.9109T>C (p.Cys3037Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32380094T>GCA026031BRCA2c.9205T>G (p.Cys3069Gly)
c.*572T>G (n.*572T>G)
c.8836T>G (p.Cys2946Gly)
c.*767T>G (n.*767T>G)
c.9154T>G (p.Cys3052Gly)
c.1621T>G (p.Cys541Gly)
n.1332T>G
c.9213T>G (n.9213T>G)
c.2083T>G
c.88T>G (p.Cys30Gly)
c.162T>G
c.9109T>G (p.Cys3037Gly)
 ClinVar dbSNP
13g.32380094T=CA2082840756BRCA2c.9205T= (p.Cys3069=)
c.*572T= (n.*572T=)
c.8836T= (p.Cys2946=)
c.*767T= (n.*767T=)
c.9154T= (p.Cys3052=)
c.1621T= (p.Cys541=)
n.1332T=
c.9213T= (n.9213T=)
c.2083T=
c.88T= (p.Cys30=)
c.162T=
c.9109T= (p.Cys3037=)
13g.32380095G>ACA387758294BRCA2c.9206G>A (p.Cys3069Tyr)
c.*573G>A (n.*573G>A)
c.8837G>A (p.Cys2946Tyr)
c.*768G>A (n.*768G>A)
c.9155G>A (p.Cys3052Tyr)
c.1622G>A (p.Cys541Tyr)
n.1333G>A
c.9214G>A (n.9214G>A)
c.2084G>A
c.89G>A (p.Cys30Tyr)
c.163G>A
c.9110G>A (p.Cys3037Tyr)
 ClinVar dbSNP gnomAD v4
13g.32380095G>CCA387758295BRCA2c.9206G>C (p.Cys3069Ser)
c.*573G>C (n.*573G>C)
c.8837G>C (p.Cys2946Ser)
c.*768G>C (n.*768G>C)
c.9155G>C (p.Cys3052Ser)
c.1622G>C (p.Cys541Ser)
n.1333G>C
c.9214G>C (n.9214G>C)
c.2084G>C
c.89G>C (p.Cys30Ser)
c.163G>C
c.9110G>C (p.Cys3037Ser)
 dbSNP
13g.32380095G=CA2082840773BRCA2c.9206G= (p.Cys3069=)
c.*573G= (n.*573G=)
c.8837G= (p.Cys2946=)
c.*768G= (n.*768G=)
c.9155G= (p.Cys3052=)
c.1622G= (p.Cys541=)
n.1333G=
c.9214G= (n.9214G=)
c.2084G=
c.89G= (p.Cys30=)
c.163G=
c.9110G= (p.Cys3037=)
13g.32380095G>TCA026032BRCA2c.9206G>T (p.Cys3069Phe)
c.*573G>T (n.*573G>T)
c.8837G>T (p.Cys2946Phe)
c.*768G>T (n.*768G>T)
c.9155G>T (p.Cys3052Phe)
c.1622G>T (p.Cys541Phe)
n.1333G>T
c.9214G>T (n.9214G>T)
c.2084G>T
c.89G>T (p.Cys30Phe)
c.163G>T
c.9110G>T (p.Cys3037Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32380095_32380098delCA645571583BRCA2c.9206_9209del (p.Cys3069LeufsTer5)
c.*573_*576del (n.*573_*576del)
c.8837_8840del (p.Cys2946LeufsTer5)
c.*768_*771del (n.*768_*771del)
c.9155_9158del (p.Cys3052LeufsTer5)
c.1622_1625del (p.Cys541LeufsTer5)
n.1333_1336del
c.9214_9217del (n.9214_9217del)
c.2084_2087del
c.89_92del (p.Cys30LeufsTer5)
c.163_166del
c.9110_9113del (p.Cys3037LeufsTer5)
 COSMIC COSMIC
13g.32380096T>ACA026033BRCA2c.9207T>A (p.Cys3069Ter)
c.*574T>A (n.*574T>A)
c.8838T>A (p.Cys2946Ter)
c.*769T>A (n.*769T>A)
c.9156T>A (p.Cys3052Ter)
c.1623T>A (p.Cys541Ter)
n.1334T>A
c.9215T>A (n.9215T>A)
c.2085T>A
c.90T>A (p.Cys30Ter)
c.164T>A
c.9111T>A (p.Cys3037Ter)
 ClinVar dbSNP
13g.32380096T>CCA10579816BRCA2c.9207T>C (p.Cys3069=)
c.*574T>C (n.*574T>C)
c.8838T>C (p.Cys2946=)
c.*769T>C (n.*769T>C)
c.9156T>C (p.Cys3052=)
c.1623T>C (p.Cys541=)
n.1334T>C
c.9215T>C (n.9215T>C)
c.2085T>C
c.90T>C (p.Cys30=)
c.164T>C
c.9111T>C (p.Cys3037=)
 ClinVar dbSNP
13g.32380096T>GCA387758327BRCA2c.9207T>G (p.Cys3069Trp)
c.*574T>G (n.*574T>G)
c.8838T>G (p.Cys2946Trp)
c.*769T>G (n.*769T>G)
c.9156T>G (p.Cys3052Trp)
c.1623T>G (p.Cys541Trp)
n.1334T>G
c.9215T>G (n.9215T>G)
c.2085T>G
c.90T>G (p.Cys30Trp)
c.164T>G
c.9111T>G (p.Cys3037Trp)
13g.32380096T=CA2082840795BRCA2c.9207T= (p.Cys3069=)
c.*574T= (n.*574T=)
c.8838T= (p.Cys2946=)
c.*769T= (n.*769T=)
c.9156T= (p.Cys3052=)
c.1623T= (p.Cys541=)
n.1334T=
c.9215T= (n.9215T=)
c.2085T=
c.90T= (p.Cys30=)
c.164T=
c.9111T= (p.Cys3037=)
13g.32380097T>ACA387758330BRCA2c.9208T>A (p.Ser3070Thr)
c.*575T>A (n.*575T>A)
c.8839T>A (p.Ser2947Thr)
c.*770T>A (n.*770T>A)
c.9157T>A (p.Ser3053Thr)
c.1624T>A (p.Ser542Thr)
n.1335T>A
c.9216T>A (n.9216T>A)
c.2086T>A
c.91T>A (p.Ser31Thr)
c.165T>A
c.9112T>A (p.Ser3038Thr)
 dbSNP
13g.32380097T>CCA387758332BRCA2c.9208T>C (p.Ser3070Pro)
c.*575T>C (n.*575T>C)
c.8839T>C (p.Ser2947Pro)
c.*770T>C (n.*770T>C)
c.9157T>C (p.Ser3053Pro)
c.1624T>C (p.Ser542Pro)
n.1335T>C
c.9216T>C (n.9216T>C)
c.2086T>C
c.91T>C (p.Ser31Pro)
c.165T>C
c.9112T>C (p.Ser3038Pro)
 ClinVar dbSNP
13g.32380097T>GCA387758335BRCA2c.9208T>G (p.Ser3070Ala)
c.*575T>G (n.*575T>G)
c.8839T>G (p.Ser2947Ala)
c.*770T>G (n.*770T>G)
c.9157T>G (p.Ser3053Ala)
c.1624T>G (p.Ser542Ala)
n.1335T>G
c.9216T>G (n.9216T>G)
c.2086T>G
c.91T>G (p.Ser31Ala)
c.165T>G
c.9112T>G (p.Ser3038Ala)
 ClinVar dbSNP
13g.32380097T=CA2082840802BRCA2c.9208T= (p.Ser3070=)
c.*575T= (n.*575T=)
c.8839T= (p.Ser2947=)
c.*770T= (n.*770T=)
c.9157T= (p.Ser3053=)
c.1624T= (p.Ser542=)
n.1335T=
c.9216T= (n.9216T=)
c.2086T=
c.91T= (p.Ser31=)
c.165T=
c.9112T= (p.Ser3038=)
13g.32380098C>ACA387758340BRCA2c.9209C>A (p.Ser3070Tyr)
c.*576C>A (n.*576C>A)
c.8840C>A (p.Ser2947Tyr)
c.*771C>A (n.*771C>A)
c.9158C>A (p.Ser3053Tyr)
c.1625C>A (p.Ser542Tyr)
n.1336C>A
c.9217C>A (n.9217C>A)
c.2087C>A
c.92C>A (p.Ser31Tyr)
c.166C>A
c.9113C>A (p.Ser3038Tyr)
 dbSNP
13g.32380098C=CA2082840824BRCA2c.9209C= (p.Ser3070=)
c.*576C= (n.*576C=)
c.8840C= (p.Ser2947=)
c.*771C= (n.*771C=)
c.9158C= (p.Ser3053=)
c.1625C= (p.Ser542=)
n.1336C=
c.9217C= (n.9217C=)
c.2087C=
c.92C= (p.Ser31=)
c.166C=
c.9113C= (p.Ser3038=)
13g.32380098C>GCA10579817BRCA2c.9209C>G (p.Ser3070Cys)
c.*576C>G (n.*576C>G)
c.8840C>G (p.Ser2947Cys)
c.*771C>G (n.*771C>G)
c.9158C>G (p.Ser3053Cys)
c.1625C>G (p.Ser542Cys)
n.1336C>G
c.9217C>G (n.9217C>G)
c.2087C>G
c.92C>G (p.Ser31Cys)
c.166C>G
c.9113C>G (p.Ser3038Cys)
 ClinVar dbSNP gnomAD v4
13g.32380098C>TCA026034BRCA2c.9209C>T (p.Ser3070Phe)
c.*576C>T (n.*576C>T)
c.8840C>T (p.Ser2947Phe)
c.*771C>T (n.*771C>T)
c.9158C>T (p.Ser3053Phe)
c.1625C>T (p.Ser542Phe)
n.1336C>T
c.9217C>T (n.9217C>T)
c.2087C>T
c.92C>T (p.Ser31Phe)
c.166C>T
c.9113C>T (p.Ser3038Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.32380098dupCA915948622BRCA2c.9209dup (p.Glu3071Ter)
c.*576dup (n.*576dup)
c.8840dup (p.Glu2948Ter)
c.*771dup (n.*771dup)
c.9158dup (p.Glu3054Ter)
c.1625dup (p.Glu543Ter)
n.1336dup
c.9217dup (n.9217dup)
c.2087dup
c.92dup (p.Glu32Ter)
c.166dup
c.9113dup (p.Glu3039Ter)
 ClinVar dbSNP
13g.32380099T>ACA483262100BRCA2c.9210T>A (p.Ser3070=)
c.*577T>A (n.*577T>A)
c.8841T>A (p.Ser2947=)
c.*772T>A (n.*772T>A)
c.9159T>A (p.Ser3053=)
c.1626T>A (p.Ser542=)
n.1337T>A
c.9218T>A (n.9218T>A)
c.2088T>A
c.93T>A (p.Ser31=)
c.167T>A
c.9114T>A (p.Ser3038=)
 ClinVar
13g.32380099T>CCA483262101BRCA2c.9210T>C (p.Ser3070=)
c.*577T>C (n.*577T>C)
c.8841T>C (p.Ser2947=)
c.*772T>C (n.*772T>C)
c.9159T>C (p.Ser3053=)
c.1626T>C (p.Ser542=)
n.1337T>C
c.9218T>C (n.9218T>C)
c.2088T>C
c.93T>C (p.Ser31=)
c.167T>C
c.9114T>C (p.Ser3038=)
 ClinVar dbSNP
13g.32380099T>GCA483262102BRCA2c.9210T>G (p.Ser3070=)
c.*577T>G (n.*577T>G)
c.8841T>G (p.Ser2947=)
c.*772T>G (n.*772T>G)
c.9159T>G (p.Ser3053=)
c.1626T>G (p.Ser542=)
n.1337T>G
c.9218T>G (n.9218T>G)
c.2088T>G
c.93T>G (p.Ser31=)
c.167T>G
c.9114T>G (p.Ser3038=)
13g.32380099T=CA2082840834BRCA2c.9210T= (p.Ser3070=)
c.*577T= (n.*577T=)
c.8841T= (p.Ser2947=)
c.*772T= (n.*772T=)
c.9159T= (p.Ser3053=)
c.1626T= (p.Ser542=)
n.1337T=
c.9218T= (n.9218T=)
c.2088T=
c.93T= (p.Ser31=)
c.167T=
c.9114T= (p.Ser3038=)
13g.32380100G>ACA387758357BRCA2c.9211G>A (p.Glu3071Lys)
c.*578G>A (n.*578G>A)
c.8842G>A (p.Glu2948Lys)
c.*773G>A (n.*773G>A)
c.9160G>A (p.Glu3054Lys)
c.1627G>A (p.Glu543Lys)
n.1338G>A
c.9219G>A (n.9219G>A)
c.2089G>A
c.94G>A (p.Glu32Lys)
c.168G>A
c.9115G>A (p.Glu3039Lys)
 ClinVar dbSNP
13g.32380100G>CCA387758349BRCA2c.9211G>C (p.Glu3071Gln)
c.*578G>C (n.*578G>C)
c.8842G>C (p.Glu2948Gln)
c.*773G>C (n.*773G>C)
c.9160G>C (p.Glu3054Gln)
c.1627G>C (p.Glu543Gln)
n.1338G>C
c.9219G>C (n.9219G>C)
c.2089G>C
c.94G>C (p.Glu32Gln)
c.168G>C
c.9115G>C (p.Glu3039Gln)
 ClinVar dbSNP
13g.32380100G=CA2082840848BRCA2c.9211G= (p.Glu3071=)
c.*578G= (n.*578G=)
c.8842G= (p.Glu2948=)
c.*773G= (n.*773G=)
c.9160G= (p.Glu3054=)
c.1627G= (p.Glu543=)
n.1338G=
c.9219G= (n.9219G=)
c.2089G=
c.94G= (p.Glu32=)
c.168G=
c.9115G= (p.Glu3039=)
13g.32380100G>TCA387758353BRCA2c.9211G>T (p.Glu3071Ter)
c.*578G>T (n.*578G>T)
c.8842G>T (p.Glu2948Ter)
c.*773G>T (n.*773G>T)
c.9160G>T (p.Glu3054Ter)
c.1627G>T (p.Glu543Ter)
n.1338G>T
c.9219G>T (n.9219G>T)
c.2089G>T
c.94G>T (p.Glu32Ter)
c.168G>T
c.9115G>T (p.Glu3039Ter)
13g.32380101A>CCA387758364BRCA2c.9212A>C (p.Glu3071Ala)
c.*579A>C (n.*579A>C)
c.8843A>C (p.Glu2948Ala)
c.*774A>C (n.*774A>C)
c.9161A>C (p.Glu3054Ala)
c.1628A>C (p.Glu543Ala)
n.1339A>C
c.9220A>C (n.9220A>C)
c.2090A>C
c.95A>C (p.Glu32Ala)
c.169A>C
c.9116A>C (p.Glu3039Ala)
13g.32380101A>GCA387758368BRCA2c.9212A>G (p.Glu3071Gly)
c.*579A>G (n.*579A>G)
c.8843A>G (p.Glu2948Gly)
c.*774A>G (n.*774A>G)
c.9161A>G (p.Glu3054Gly)
c.1628A>G (p.Glu543Gly)
n.1339A>G
c.9220A>G (n.9220A>G)
c.2090A>G
c.95A>G (p.Glu32Gly)
c.169A>G
c.9116A>G (p.Glu3039Gly)
13g.32380101A>TCA387758373BRCA2c.9212A>T (p.Glu3071Val)
c.*579A>T (n.*579A>T)
c.8843A>T (p.Glu2948Val)
c.*774A>T (n.*774A>T)
c.9161A>T (p.Glu3054Val)
c.1628A>T (p.Glu543Val)
n.1339A>T
c.9220A>T (n.9220A>T)
c.2090A>T
c.95A>T (p.Glu32Val)
c.169A>T
c.9116A>T (p.Glu3039Val)
 ClinVar dbSNP
13g.32380101dupCA658656438BRCA2c.9212dup (p.Val3072GlyfsTer?)
c.*579dup (n.*579dup)
c.8843dup (p.Val2949GlyfsTer?)
c.*774dup (n.*774dup)
c.9161dup (p.Val3055GlyfsTer?)
c.1628dup (p.Val544GlyfsTer?)
n.1339dup
c.9220dup (n.9220dup)
c.2090dup
c.95dup (p.Val33GlyfsTer?)
c.169dup
c.9116dup (p.Val3040GlyfsTer?)
 ClinVar dbSNP
13g.32380102G>ACA483262105BRCA2c.9213G>A (p.Glu3071=)
c.*580G>A (n.*580G>A)
c.8844G>A (p.Glu2948=)
c.*775G>A (n.*775G>A)
c.9162G>A (p.Glu3054=)
c.1629G>A (p.Glu543=)
n.1340G>A
c.9221G>A (n.9221G>A)
c.2091G>A
c.96G>A (p.Glu32=)
c.170G>A
c.9117G>A (p.Glu3039=)
 dbSNP
13g.32380102G>CCA387758382BRCA2c.9213G>C (p.Glu3071Asp)
c.*580G>C (n.*580G>C)
c.8844G>C (p.Glu2948Asp)
c.*775G>C (n.*775G>C)
c.9162G>C (p.Glu3054Asp)
c.1629G>C (p.Glu543Asp)
n.1340G>C
c.9221G>C (n.9221G>C)
c.2091G>C
c.96G>C (p.Glu32Asp)
c.170G>C
c.9117G>C (p.Glu3039Asp)
 dbSNP
13g.32380102G=CA2082840864BRCA2c.9213G= (p.Glu3071=)
c.*580G= (n.*580G=)
c.8844G= (p.Glu2948=)
c.*775G= (n.*775G=)
c.9162G= (p.Glu3054=)
c.1629G= (p.Glu543=)
n.1340G=
c.9221G= (n.9221G=)
c.2091G=
c.96G= (p.Glu32=)
c.170G=
c.9117G= (p.Glu3039=)
13g.32380102G>TCA026035BRCA2c.9213G>T (p.Glu3071Asp)
c.*580G>T (n.*580G>T)
c.8844G>T (p.Glu2948Asp)
c.*775G>T (n.*775G>T)
c.9162G>T (p.Glu3054Asp)
c.1629G>T (p.Glu543Asp)
n.1340G>T
c.9221G>T (n.9221G>T)
c.2091G>T
c.96G>T (p.Glu32Asp)
c.170G>T
c.9117G>T (p.Glu3039Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.32380103G>ACA387758390BRCA2c.9214G>A (p.Val3072Met)
c.*581G>A (n.*581G>A)
c.8845G>A (p.Val2949Met)
c.*776G>A (n.*776G>A)
c.9163G>A (p.Val3055Met)
c.1630G>A (p.Val544Met)
n.1341G>A
c.9222G>A (n.9222G>A)
c.2092G>A
c.97G>A (p.Val33Met)
c.171G>A
c.9118G>A (p.Val3040Met)
 dbSNP
13g.32380103G>CCA387758392BRCA2c.9214G>C (p.Val3072Leu)
c.*581G>C (n.*581G>C)
c.8845G>C (p.Val2949Leu)
c.*776G>C (n.*776G>C)
c.9163G>C (p.Val3055Leu)
c.1630G>C (p.Val544Leu)
n.1341G>C
c.9222G>C (n.9222G>C)
c.2092G>C
c.97G>C (p.Val33Leu)
c.171G>C
c.9118G>C (p.Val3040Leu)
 dbSNP
13g.32380103G>TCA387758396BRCA2c.9214G>T (p.Val3072Leu)
c.*581G>T (n.*581G>T)
c.8845G>T (p.Val2949Leu)
c.*776G>T (n.*776G>T)
c.9163G>T (p.Val3055Leu)
c.1630G>T (p.Val544Leu)
n.1341G>T
c.9222G>T (n.9222G>T)
c.2092G>T
c.97G>T (p.Val33Leu)
c.171G>T
c.9118G>T (p.Val3040Leu)
 dbSNP
13g.32380104T>ACA026036BRCA2c.9215T>A (p.Val3072Glu)
c.*582T>A (n.*582T>A)
c.8846T>A (p.Val2949Glu)
c.*777T>A (n.*777T>A)
c.9164T>A (p.Val3055Glu)
c.1631T>A (p.Val544Glu)
n.1342T>A
c.9223T>A (n.9223T>A)
c.2093T>A
c.98T>A (p.Val33Glu)
c.172T>A
c.9119T>A (p.Val3040Glu)
 ClinVar dbSNP
13g.32380104T>CCA387758401BRCA2c.9215T>C (p.Val3072Ala)
c.*582T>C (n.*582T>C)
c.8846T>C (p.Val2949Ala)
c.*777T>C (n.*777T>C)
c.9164T>C (p.Val3055Ala)
c.1631T>C (p.Val544Ala)
n.1342T>C
c.9223T>C (n.9223T>C)
c.2093T>C
c.98T>C (p.Val33Ala)
c.172T>C
c.9119T>C (p.Val3040Ala)
13g.32380104T>GCA387758402BRCA2c.9215T>G (p.Val3072Gly)
c.*582T>G (n.*582T>G)
c.8846T>G (p.Val2949Gly)
c.*777T>G (n.*777T>G)
c.9164T>G (p.Val3055Gly)
c.1631T>G (p.Val544Gly)
n.1342T>G
c.9223T>G (n.9223T>G)
c.2093T>G
c.98T>G (p.Val33Gly)
c.172T>G
c.9119T>G (p.Val3040Gly)
13g.32380104T=CA2082840877BRCA2c.9215T= (p.Val3072=)
c.*582T= (n.*582T=)
c.8846T= (p.Val2949=)
c.*777T= (n.*777T=)
c.9164T= (p.Val3055=)
c.1631T= (p.Val544=)
n.1342T=
c.9223T= (n.9223T=)
c.2093T=
c.98T= (p.Val33=)
c.172T=
c.9119T= (p.Val3040=)
13g.32380104_32380114delinsTGGACCTAATACA2082840887BRCA2c.9215_9225delinsTGGACCTAATA (p.Val3072=)
c.*582_*592delinsTGGACCTAATA (n.*582_*592delinsTGGACCTAATA)
c.8846_8856delinsTGGACCTAATA (p.Val2949=)
c.*777_*787delinsTGGACCTAATA (n.*777_*787delinsTGGACCTAATA)
c.9164_9174delinsTGGACCTAATA (p.Val3055=)
c.1631_1641delinsTGGACCTAATA (p.Val544=)
n.1342_1352delinsTGGACCTAATA
c.9223_9233delinsTGGACCTAATA (n.9223_9233delinsTGGACCTAATA)
c.2093_2103delinsTGGACCTAATA
c.98_108delinsTGGACCTAATA (p.Val33=)
c.172_182delinsTGGACCTAATA
c.9119_9129delinsTGGACCTAATA (p.Val3040=)
13g.32380105G>ACA6941356BRCA2c.9216G>A (p.Val3072=)
c.*583G>A (n.*583G>A)
c.8847G>A (p.Val2949=)
c.*778G>A (n.*778G>A)
c.9165G>A (p.Val3055=)
c.1632G>A (p.Val544=)
n.1343G>A
c.9224G>A (n.9224G>A)
c.2094G>A
c.99G>A (p.Val33=)
c.173G>A
c.9120G>A (p.Val3040=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32380105G>CCA483262107BRCA2c.9216G>C (p.Val3072=)
c.*583G>C (n.*583G>C)
c.8847G>C (p.Val2949=)
c.*778G>C (n.*778G>C)
c.9165G>C (p.Val3055=)
c.1632G>C (p.Val544=)
n.1343G>C
c.9224G>C (n.9224G>C)
c.2094G>C
c.99G>C (p.Val33=)
c.173G>C
c.9120G>C (p.Val3040=)
 dbSNP
13g.32380105G=CA2082840895BRCA2c.9216G= (p.Val3072=)
c.*583G= (n.*583G=)
c.8847G= (p.Val2949=)
c.*778G= (n.*778G=)
c.9165G= (p.Val3055=)
c.1632G= (p.Val544=)
n.1343G=
c.9224G= (n.9224G=)
c.2094G=
c.99G= (p.Val33=)
c.173G=
c.9120G= (p.Val3040=)
13g.32380105G>TCA483262108BRCA2c.9216G>T (p.Val3072=)
c.*583G>T (n.*583G>T)
c.8847G>T (p.Val2949=)
c.*778G>T (n.*778G>T)
c.9165G>T (p.Val3055=)
c.1632G>T (p.Val544=)
n.1343G>T
c.9224G>T (n.9224G>T)
c.2094G>T
c.99G>T (p.Val33=)
c.173G>T
c.9120G>T (p.Val3040=)
 dbSNP
13g.32380105_32380106insTAGCA2622601890BRCA2c.9216_9217insTAG
c.*583_*584insTAG (n.*583_*584insTAG)
c.8847_8848insTAG
c.*778_*779insTAG (n.*778_*779insTAG)
c.9165_9166insTAG
c.1632_1633insTAG
n.1343_1344insTAG
c.9224_9225insTAG (n.9224_9225insTAG)
c.2094_2095insTAG
c.99_100insTAG
c.173_174insTAG
c.9120_9121insTAG
 gnomAD v4
13g.32380108_32380117delCA658656440BRCA2c.9219_9228del (p.Ile3075SerfsTer5)
c.*586_*595del (n.*586_*595del)
c.8850_8859del (p.Ile2952SerfsTer5)
c.*781_*790del (n.*781_*790del)
c.9168_9177del (p.Ile3058SerfsTer5)
c.1635_1644del (p.Ile547SerfsTer5)
n.1346_1355del
c.9227_9236del (n.9227_9236del)
c.2097_2106del
c.102_111del (p.Ile36SerfsTer5)
c.176_185del
c.9123_9132del (p.Ile3043SerfsTer5)
 ClinVar dbSNP

Number of alleles fetched