Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.32398161_32398770delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAACA2082833839BRCA2c.*172-1_*780delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA
c.*1016-1_*1624delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA
c.9280-1_9888delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA
c.*1211-1_*1819delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA
c.9598-1_10206delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA
c.2065-1_2673delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA
n.1776-1_2384delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA
c.9649-1_10257delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA
c.9657-1_10265delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA
c.9553-1_10161delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA
13g.32398162_32398770delCA913190737BRCA2c.*172_*780del (n.*172_*780del)
c.*1016_*1624del (n.*1016_*1624del)
c.9280_9888del (p.Met3094_Ter3296del)
c.*1211_*1819del (n.*1211_*1819del)
c.9598_10206del (p.Met3200_Ter3402del)
c.2065_2673del (p.Met689_Ter891del)
n.1776_2384del
c.9649_10257del (p.Met3217_Ter3419del)
c.9657_10265del (n.9657_10265del)
c.9553_10161del (p.Met3185_Ter3387del)
ClinVar dbSNP
13g.32398162_32399672delCA658798102BRCA2c.*172_*1682del (n.*172_*1682del)
c.9280_*902del (n.[c.9280_*902del;Met3094LeufsTer18])
c.9649_*902del (n.[c.9649_*902del;Met3217LeufsTer18])
c.9657_11167del (n.9657_11167del)
c.9649_*902del (n.[c.9649_*902del;Met3217=])
c.9553_*902del (n.[c.9553_*902del;Met3185LeufsTer18])
ClinVar
13g.32398437C>ACA10589578BRCA2c.*447C>A (n.*447C>A)
c.*1291C>A (n.*1291C>A)
c.9555C>A (p.Tyr3185Ter)
c.*1486C>A (n.*1486C>A)
c.9873C>A (p.Tyr3291Ter)
c.2340C>A (p.Tyr780Ter)
n.2051C>A
c.9924C>A (p.Tyr3308Ter)
c.9932C>A (n.9932C>A)
n.512C>A
c.9828C>A (p.Tyr3276Ter)
ClinVar dbSNP
13g.32398437C=CA2082835978BRCA2c.*447C= (n.*447C=)
c.*1291C= (n.*1291C=)
c.9555C= (p.Tyr3185=)
c.*1486C= (n.*1486C=)
c.9873C= (p.Tyr3291=)
c.2340C= (p.Tyr780=)
n.2051C=
c.9924C= (p.Tyr3308=)
c.9932C= (n.9932C=)
n.512C=
c.9828C= (p.Tyr3276=)
13g.32398437C>GCA026332BRCA2c.*447C>G (n.*447C>G)
c.*1291C>G (n.*1291C>G)
c.9555C>G (p.Tyr3185Ter)
c.*1486C>G (n.*1486C>G)
c.9873C>G (p.Tyr3291Ter)
c.2340C>G (p.Tyr780Ter)
n.2051C>G
c.9924C>G (p.Tyr3308Ter)
c.9932C>G (n.9932C>G)
n.512C>G
c.9828C>G (p.Tyr3276Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398437C>TCA026333BRCA2c.*447C>T (n.*447C>T)
c.*1291C>T (n.*1291C>T)
c.9555C>T (p.Tyr3185=)
c.*1486C>T (n.*1486C>T)
c.9873C>T (p.Tyr3291=)
c.2340C>T (p.Tyr780=)
n.2051C>T
c.9924C>T (p.Tyr3308=)
c.9932C>T (n.9932C>T)
n.512C>T
c.9828C>T (p.Tyr3276=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398438G>ACA026334BRCA2c.*448G>A (n.*448G>A)
c.*1292G>A (n.*1292G>A)
c.9556G>A (p.Glu3186Lys)
c.*1487G>A (n.*1487G>A)
c.9874G>A (p.Glu3292Lys)
c.2341G>A (p.Glu781Lys)
n.2052G>A
c.9925G>A (p.Glu3309Lys)
c.9933G>A (n.9933G>A)
n.513G>A
c.9829G>A (p.Glu3277Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398438G>CCA387767097BRCA2c.*448G>C (n.*448G>C)
c.*1292G>C (n.*1292G>C)
c.9556G>C (p.Glu3186Gln)
c.*1487G>C (n.*1487G>C)
c.9874G>C (p.Glu3292Gln)
c.2341G>C (p.Glu781Gln)
n.2052G>C
c.9925G>C (p.Glu3309Gln)
c.9933G>C (n.9933G>C)
n.513G>C
c.9829G>C (p.Glu3277Gln)
13g.32398438G=CA2082835990BRCA2c.*448G= (n.*448G=)
c.*1292G= (n.*1292G=)
c.9556G= (p.Glu3186=)
c.*1487G= (n.*1487G=)
c.9874G= (p.Glu3292=)
c.2341G= (p.Glu781=)
n.2052G=
c.9925G= (p.Glu3309=)
c.9933G= (n.9933G=)
n.513G=
c.9829G= (p.Glu3277=)
13g.32398438G>TCA026335BRCA2c.*448G>T (n.*448G>T)
c.*1292G>T (n.*1292G>T)
c.9556G>T (p.Glu3186Ter)
c.*1487G>T (n.*1487G>T)
c.9874G>T (p.Glu3292Ter)
c.2341G>T (p.Glu781Ter)
n.2052G>T
c.9925G>T (p.Glu3309Ter)
c.9933G>T (n.9933G>T)
n.513G>T
c.9829G>T (p.Glu3277Ter)
ClinVar dbSNP gnomAD v4
13g.32398438_32398439delinsTTCA2580087470BRCA2c.*448_*449delinsTT (n.*448_*449delinsTT)
c.*1292_*1293delinsTT (n.*1292_*1293delinsTT)
c.9556_9557delinsTT (p.Glu3186Leu)
c.*1487_*1488delinsTT (n.*1487_*1488delinsTT)
c.9874_9875delinsTT (p.Glu3292Leu)
c.2341_2342delinsTT (p.Glu781Leu)
n.2052_2053delinsTT
c.9925_9926delinsTT (p.Glu3309Leu)
c.9933_9934delinsTT (n.9933_9934delinsTT)
n.513_514delinsTT
c.9829_9830delinsTT (p.Glu3277Leu)
ClinVar
13g.32398439A=CA2082835998BRCA2c.*449A= (n.*449A=)
c.*1293A= (n.*1293A=)
c.9557A= (p.Glu3186=)
c.*1488A= (n.*1488A=)
c.9875A= (p.Glu3292=)
c.2342A= (p.Glu781=)
n.2053A=
c.9926A= (p.Glu3309=)
c.9934A= (n.9934A=)
n.514A=
c.9830A= (p.Glu3277=)
13g.32398439A>CCA387767101BRCA2c.*449A>C (n.*449A>C)
c.*1293A>C (n.*1293A>C)
c.9557A>C (p.Glu3186Ala)
c.*1488A>C (n.*1488A>C)
c.9875A>C (p.Glu3292Ala)
c.2342A>C (p.Glu781Ala)
n.2053A>C
c.9926A>C (p.Glu3309Ala)
c.9934A>C (n.9934A>C)
n.514A>C
c.9830A>C (p.Glu3277Ala)
13g.32398439A>GCA16619798BRCA2c.*449A>G (n.*449A>G)
c.*1293A>G (n.*1293A>G)
c.9557A>G (p.Glu3186Gly)
c.*1488A>G (n.*1488A>G)
c.9875A>G (p.Glu3292Gly)
c.2342A>G (p.Glu781Gly)
n.2053A>G
c.9926A>G (p.Glu3309Gly)
c.9934A>G (n.9934A>G)
n.514A>G
c.9830A>G (p.Glu3277Gly)
ClinVar dbSNP
13g.32398439A>TCA387767103BRCA2c.*449A>T (n.*449A>T)
c.*1293A>T (n.*1293A>T)
c.9557A>T (p.Glu3186Val)
c.*1488A>T (n.*1488A>T)
c.9875A>T (p.Glu3292Val)
c.2342A>T (p.Glu781Val)
n.2053A>T
c.9926A>T (p.Glu3309Val)
c.9934A>T (n.9934A>T)
n.514A>T
c.9830A>T (p.Glu3277Val)
ClinVar dbSNP
13g.32398440A>CCA387767106BRCA2c.*450A>C (n.*450A>C)
c.*1294A>C (n.*1294A>C)
c.9558A>C (p.Glu3186Asp)
c.*1489A>C (n.*1489A>C)
c.9876A>C (p.Glu3292Asp)
c.2343A>C (p.Glu781Asp)
n.2054A>C
c.9927A>C (p.Glu3309Asp)
c.9935A>C (n.9935A>C)
n.515A>C
c.9831A>C (p.Glu3277Asp)
dbSNP
13g.32398440A>GCA483440007BRCA2c.*450A>G (n.*450A>G)
c.*1294A>G (n.*1294A>G)
c.9558A>G (p.Glu3186=)
c.*1489A>G (n.*1489A>G)
c.9876A>G (p.Glu3292=)
c.2343A>G (p.Glu781=)
n.2054A>G
c.9927A>G (p.Glu3309=)
c.9935A>G (n.9935A>G)
n.515A>G
c.9831A>G (p.Glu3277=)
dbSNP
13g.32398440A>TCA387767111BRCA2c.*450A>T (n.*450A>T)
c.*1294A>T (n.*1294A>T)
c.9558A>T (p.Glu3186Asp)
c.*1489A>T (n.*1489A>T)
c.9876A>T (p.Glu3292Asp)
c.2343A>T (p.Glu781Asp)
n.2054A>T
c.9927A>T (p.Glu3309Asp)
c.9935A>T (n.9935A>T)
n.515A>T
c.9831A>T (p.Glu3277Asp)
13g.32398441A>CCA387767113BRCA2c.*451A>C (n.*451A>C)
c.*1295A>C (n.*1295A>C)
c.9559A>C (p.Thr3187Pro)
c.*1490A>C (n.*1490A>C)
c.9877A>C (p.Thr3293Pro)
c.2344A>C (p.Thr782Pro)
n.2055A>C
c.9928A>C (p.Thr3310Pro)
c.9936A>C (n.9936A>C)
n.516A>C
c.9832A>C (p.Thr3278Pro)
13g.32398441A>GCA387767117BRCA2c.*451A>G (n.*451A>G)
c.*1295A>G (n.*1295A>G)
c.9559A>G (p.Thr3187Ala)
c.*1490A>G (n.*1490A>G)
c.9877A>G (p.Thr3293Ala)
c.2344A>G (p.Thr782Ala)
n.2055A>G
c.9928A>G (p.Thr3310Ala)
c.9936A>G (n.9936A>G)
n.516A>G
c.9832A>G (p.Thr3278Ala)
13g.32398441A>TCA387767120BRCA2c.*451A>T (n.*451A>T)
c.*1295A>T (n.*1295A>T)
c.9559A>T (p.Thr3187Ser)
c.*1490A>T (n.*1490A>T)
c.9877A>T (p.Thr3293Ser)
c.2344A>T (p.Thr782Ser)
n.2055A>T
c.9928A>T (p.Thr3310Ser)
c.9936A>T (n.9936A>T)
n.516A>T
c.9832A>T (p.Thr3278Ser)
13g.32398442C>ACA387767121BRCA2c.*452C>A (n.*452C>A)
c.*1296C>A (n.*1296C>A)
c.9560C>A (p.Thr3187Lys)
c.*1491C>A (n.*1491C>A)
c.9878C>A (p.Thr3293Lys)
c.2345C>A (p.Thr782Lys)
n.2056C>A
c.9929C>A (p.Thr3310Lys)
c.9937C>A (n.9937C>A)
n.517C>A
c.9833C>A (p.Thr3278Lys)
dbSNP
13g.32398442C>GCA387767124BRCA2c.*452C>G (n.*452C>G)
c.*1296C>G (n.*1296C>G)
c.9560C>G (p.Thr3187Arg)
c.*1491C>G (n.*1491C>G)
c.9878C>G (p.Thr3293Arg)
c.2345C>G (p.Thr782Arg)
n.2056C>G
c.9929C>G (p.Thr3310Arg)
c.9937C>G (n.9937C>G)
n.517C>G
c.9833C>G (p.Thr3278Arg)
dbSNP
13g.32398442C>TCA387767127BRCA2c.*452C>T (n.*452C>T)
c.*1296C>T (n.*1296C>T)
c.9560C>T (p.Thr3187Ile)
c.*1491C>T (n.*1491C>T)
c.9878C>T (p.Thr3293Ile)
c.2345C>T (p.Thr782Ile)
n.2056C>T
c.9929C>T (p.Thr3310Ile)
c.9937C>T (n.9937C>T)
n.517C>T
c.9833C>T (p.Thr3278Ile)
dbSNP
13g.32398443A=CA2082836008BRCA2c.*453A= (n.*453A=)
c.*1297A= (n.*1297A=)
c.9561A= (p.Thr3187=)
c.*1492A= (n.*1492A=)
c.9879A= (p.Thr3293=)
c.2346A= (p.Thr782=)
n.2057A=
c.9930A= (p.Thr3310=)
c.9938A= (n.9938A=)
n.518A=
c.9834A= (p.Thr3278=)
13g.32398443A>CCA6941457BRCA2c.*453A>C (n.*453A>C)
c.*1297A>C (n.*1297A>C)
c.9561A>C (p.Thr3187=)
c.*1492A>C (n.*1492A>C)
c.9879A>C (p.Thr3293=)
c.2346A>C (p.Thr782=)
n.2057A>C
c.9930A>C (p.Thr3310=)
c.9938A>C (n.9938A>C)
n.518A>C
c.9834A>C (p.Thr3278=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398443A>GCA483440009BRCA2c.*453A>G (n.*453A>G)
c.*1297A>G (n.*1297A>G)
c.9561A>G (p.Thr3187=)
c.*1492A>G (n.*1492A>G)
c.9879A>G (p.Thr3293=)
c.2346A>G (p.Thr782=)
n.2057A>G
c.9930A>G (p.Thr3310=)
c.9938A>G (n.9938A>G)
n.518A>G
c.9834A>G (p.Thr3278=)
ClinVar
13g.32398443A>TCA483440010BRCA2c.*453A>T (n.*453A>T)
c.*1297A>T (n.*1297A>T)
c.9561A>T (p.Thr3187=)
c.*1492A>T (n.*1492A>T)
c.9879A>T (p.Thr3293=)
c.2346A>T (p.Thr782=)
n.2057A>T
c.9930A>T (p.Thr3310=)
c.9938A>T (n.9938A>T)
n.518A>T
c.9834A>T (p.Thr3278=)
13g.32398444C>ACA387767137BRCA2c.*454C>A (n.*454C>A)
c.*1298C>A (n.*1298C>A)
c.9562C>A (p.Pro3188Thr)
c.*1493C>A (n.*1493C>A)
c.9880C>A (p.Pro3294Thr)
c.2347C>A (p.Pro783Thr)
n.2058C>A
c.9931C>A (p.Pro3311Thr)
c.9939C>A (n.9939C>A)
n.519C>A
c.9835C>A (p.Pro3279Thr)
dbSNP gnomAD v2
13g.32398444C=CA2082836020BRCA2c.*454C= (n.*454C=)
c.*1298C= (n.*1298C=)
c.9562C= (p.Pro3188=)
c.*1493C= (n.*1493C=)
c.9880C= (p.Pro3294=)
c.2347C= (p.Pro783=)
n.2058C=
c.9931C= (p.Pro3311=)
c.9939C= (n.9939C=)
n.519C=
c.9835C= (p.Pro3279=)
13g.32398444C>GCA387767140BRCA2c.*454C>G (n.*454C>G)
c.*1298C>G (n.*1298C>G)
c.9562C>G (p.Pro3188Ala)
c.*1493C>G (n.*1493C>G)
c.9880C>G (p.Pro3294Ala)
c.2347C>G (p.Pro783Ala)
n.2058C>G
c.9931C>G (p.Pro3311Ala)
c.9939C>G (n.9939C>G)
n.519C>G
c.9835C>G (p.Pro3279Ala)
dbSNP
13g.32398444C>TCA387767135BRCA2c.*454C>T (n.*454C>T)
c.*1298C>T (n.*1298C>T)
c.9562C>T (p.Pro3188Ser)
c.*1493C>T (n.*1493C>T)
c.9880C>T (p.Pro3294Ser)
c.2347C>T (p.Pro783Ser)
n.2058C>T
c.9931C>T (p.Pro3311Ser)
c.9939C>T (n.9939C>T)
n.519C>T
c.9835C>T (p.Pro3279Ser)
ClinVar dbSNP
13g.32398446delCA2580087471BRCA2c.*456del (n.*456del)
c.*1300del (n.*1300del)
c.9564del (p.Ile3189Ter)
c.*1495del (n.*1495del)
c.9882del (p.Ile3295Ter)
c.2349del (p.Ile784Ter)
n.2060del
c.9933del (p.Ile3312Ter)
c.9941del (n.9941del)
n.521del
c.9837del (p.Ile3280Ter)
ClinVar gnomAD v4
13g.32398445C>ACA387767144BRCA2c.*455C>A (n.*455C>A)
c.*1299C>A (n.*1299C>A)
c.9563C>A (p.Pro3188His)
c.*1494C>A (n.*1494C>A)
c.9881C>A (p.Pro3294His)
c.2348C>A (p.Pro783His)
n.2059C>A
c.9932C>A (p.Pro3311His)
c.9940C>A (n.9940C>A)
n.520C>A
c.9836C>A (p.Pro3279His)
dbSNP gnomAD v2
13g.32398445C=CA2082836033BRCA2c.*455C= (n.*455C=)
c.*1299C= (n.*1299C=)
c.9563C= (p.Pro3188=)
c.*1494C= (n.*1494C=)
c.9881C= (p.Pro3294=)
c.2348C= (p.Pro783=)
n.2059C=
c.9932C= (p.Pro3311=)
c.9940C= (n.9940C=)
n.520C=
c.9836C= (p.Pro3279=)
13g.32398445C>GCA16619799BRCA2c.*455C>G (n.*455C>G)
c.*1299C>G (n.*1299C>G)
c.9563C>G (p.Pro3188Arg)
c.*1494C>G (n.*1494C>G)
c.9881C>G (p.Pro3294Arg)
c.2348C>G (p.Pro783Arg)
n.2059C>G
c.9932C>G (p.Pro3311Arg)
c.9940C>G (n.9940C>G)
n.520C>G
c.9836C>G (p.Pro3279Arg)
ClinVar dbSNP
13g.32398445C>TCA16614260BRCA2c.*455C>T (n.*455C>T)
c.*1299C>T (n.*1299C>T)
c.9563C>T (p.Pro3188Leu)
c.*1494C>T (n.*1494C>T)
c.9881C>T (p.Pro3294Leu)
c.2348C>T (p.Pro783Leu)
n.2059C>T
c.9932C>T (p.Pro3311Leu)
c.9940C>T (n.9940C>T)
n.520C>T
c.9836C>T (p.Pro3279Leu)
ClinVar dbSNP
13g.32398446C>ACA483440011BRCA2c.*456C>A (n.*456C>A)
c.*1300C>A (n.*1300C>A)
c.9564C>A (p.Pro3188=)
c.*1495C>A (n.*1495C>A)
c.9882C>A (p.Pro3294=)
c.2349C>A (p.Pro783=)
n.2060C>A
c.9933C>A (p.Pro3311=)
c.9941C>A (n.9941C>A)
n.521C>A
c.9837C>A (p.Pro3279=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.32398446C=CA2082836040BRCA2c.*456C= (n.*456C=)
c.*1300C= (n.*1300C=)
c.9564C= (p.Pro3188=)
c.*1495C= (n.*1495C=)
c.9882C= (p.Pro3294=)
c.2349C= (p.Pro783=)
n.2060C=
c.9933C= (p.Pro3311=)
c.9941C= (n.9941C=)
n.521C=
c.9837C= (p.Pro3279=)
13g.32398446C>GCA483440013BRCA2c.*456C>G (n.*456C>G)
c.*1300C>G (n.*1300C>G)
c.9564C>G (p.Pro3188=)
c.*1495C>G (n.*1495C>G)
c.9882C>G (p.Pro3294=)
c.2349C>G (p.Pro783=)
n.2060C>G
c.9933C>G (p.Pro3311=)
c.9941C>G (n.9941C>G)
n.521C>G
c.9837C>G (p.Pro3279=)
dbSNP
13g.32398446C>TCA483440012BRCA2c.*456C>T (n.*456C>T)
c.*1300C>T (n.*1300C>T)
c.9564C>T (p.Pro3188=)
c.*1495C>T (n.*1495C>T)
c.9882C>T (p.Pro3294=)
c.2349C>T (p.Pro783=)
n.2060C>T
c.9933C>T (p.Pro3311=)
c.9941C>T (n.9941C>T)
n.521C>T
c.9837C>T (p.Pro3279=)
ClinVar dbSNP
13g.32398447A=CA2082836046BRCA2c.*457A= (n.*457A=)
c.*1301A= (n.*1301A=)
c.9565A= (p.Ile3189=)
c.*1496A= (n.*1496A=)
c.9883A= (p.Ile3295=)
c.2350A= (p.Ile784=)
n.2061A=
c.9934A= (p.Ile3312=)
c.9942A= (n.9942A=)
n.522A=
c.9838A= (p.Ile3280=)
13g.32398447A>CCA387767149BRCA2c.*457A>C (n.*457A>C)
c.*1301A>C (n.*1301A>C)
c.9565A>C (p.Ile3189Leu)
c.*1496A>C (n.*1496A>C)
c.9883A>C (p.Ile3295Leu)
c.2350A>C (p.Ile784Leu)
n.2061A>C
c.9934A>C (p.Ile3312Leu)
c.9942A>C (n.9942A>C)
n.522A>C
c.9838A>C (p.Ile3280Leu)
13g.32398447A>GCA026337BRCA2c.*457A>G (n.*457A>G)
c.*1301A>G (n.*1301A>G)
c.9565A>G (p.Ile3189Val)
c.*1496A>G (n.*1496A>G)
c.9883A>G (p.Ile3295Val)
c.2350A>G (p.Ile784Val)
n.2061A>G
c.9934A>G (p.Ile3312Val)
c.9942A>G (n.9942A>G)
n.522A>G
c.9838A>G (p.Ile3280Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398447A>TCA387767153BRCA2c.*457A>T (n.*457A>T)
c.*1301A>T (n.*1301A>T)
c.9565A>T (p.Ile3189Leu)
c.*1496A>T (n.*1496A>T)
c.9883A>T (p.Ile3295Leu)
c.2350A>T (p.Ile784Leu)
n.2061A>T
c.9934A>T (p.Ile3312Leu)
c.9942A>T (n.9942A>T)
n.522A>T
c.9838A>T (p.Ile3280Leu)
dbSNP
13g.32398448T>ACA387767159BRCA2c.*458T>A (n.*458T>A)
c.*1302T>A (n.*1302T>A)
c.9566T>A (p.Ile3189Lys)
c.*1497T>A (n.*1497T>A)
c.9884T>A (p.Ile3295Lys)
c.2351T>A (p.Ile784Lys)
n.2062T>A
c.9935T>A (p.Ile3312Lys)
c.9943T>A (n.9943T>A)
n.523T>A
c.9839T>A (p.Ile3280Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.32398448T>CCA387767162BRCA2c.*458T>C (n.*458T>C)
c.*1302T>C (n.*1302T>C)
c.9566T>C (p.Ile3189Thr)
c.*1497T>C (n.*1497T>C)
c.9884T>C (p.Ile3295Thr)
c.2351T>C (p.Ile784Thr)
n.2062T>C
c.9935T>C (p.Ile3312Thr)
c.9943T>C (n.9943T>C)
n.523T>C
c.9839T>C (p.Ile3280Thr)
gnomAD v4
13g.32398448T>GCA387767166BRCA2c.*458T>G (n.*458T>G)
c.*1302T>G (n.*1302T>G)
c.9566T>G (p.Ile3189Arg)
c.*1497T>G (n.*1497T>G)
c.9884T>G (p.Ile3295Arg)
c.2351T>G (p.Ile784Arg)
n.2062T>G
c.9935T>G (p.Ile3312Arg)
c.9943T>G (n.9943T>G)
n.523T>G
c.9839T>G (p.Ile3280Arg)
13g.32398448T=CA2082836061BRCA2c.*458T= (n.*458T=)
c.*1302T= (n.*1302T=)
c.9566T= (p.Ile3189=)
c.*1497T= (n.*1497T=)
c.9884T= (p.Ile3295=)
c.2351T= (p.Ile784=)
n.2062T=
c.9935T= (p.Ile3312=)
c.9943T= (n.9943T=)
n.523T=
c.9839T= (p.Ile3280=)
13g.32398448_32398452delinsTAAAGCA2082836055BRCA2c.*458_*462delinsTAAAG (n.*458_*462delinsTAAAG)
c.*1302_*1306delinsTAAAG (n.*1302_*1306delinsTAAAG)
c.9566_9570delinsTAAAG (p.Ile3189=)
c.*1497_*1501delinsTAAAG (n.*1497_*1501delinsTAAAG)
c.9884_9888delinsTAAAG (p.Ile3295=)
c.2351_2355delinsTAAAG (p.Ile784=)
n.2062_2066delinsTAAAG
c.9935_9939delinsTAAAG (p.Ile3312=)
c.9943_9947delinsTAAAG (n.9943_9947delinsTAAAG)
c.9839_9843delinsTAAAG (p.Ile3280=)
13g.32398449A=CA2082836072BRCA2c.*459A= (n.*459A=)
c.*1303A= (n.*1303A=)
c.9567A= (p.Ile3189=)
c.*1498A= (n.*1498A=)
c.9885A= (p.Ile3295=)
c.2352A= (p.Ile784=)
n.2063A=
c.9936A= (p.Ile3312=)
c.9944A= (n.9944A=)
c.9840A= (p.Ile3280=)
13g.32398449A>CCA483440017BRCA2c.*459A>C (n.*459A>C)
c.*1303A>C (n.*1303A>C)
c.9567A>C (p.Ile3189=)
c.*1498A>C (n.*1498A>C)
c.9885A>C (p.Ile3295=)
c.2352A>C (p.Ile784=)
n.2063A>C
c.9936A>C (p.Ile3312=)
c.9944A>C (n.9944A>C)
c.9840A>C (p.Ile3280=)
13g.32398449A>GCA026338BRCA2c.*459A>G (n.*459A>G)
c.*1303A>G (n.*1303A>G)
c.9567A>G (p.Ile3189Met)
c.*1498A>G (n.*1498A>G)
c.9885A>G (p.Ile3295Met)
c.2352A>G (p.Ile784Met)
n.2063A>G
c.9936A>G (p.Ile3312Met)
c.9944A>G (n.9944A>G)
c.9840A>G (p.Ile3280Met)
ClinVar dbSNP gnomAD v4
13g.32398449A>TCA483440018BRCA2c.*459A>T (n.*459A>T)
c.*1303A>T (n.*1303A>T)
c.9567A>T (p.Ile3189=)
c.*1498A>T (n.*1498A>T)
c.9885A>T (p.Ile3295=)
c.2352A>T (p.Ile784=)
n.2063A>T
c.9936A>T (p.Ile3312=)
c.9944A>T (n.9944A>T)
c.9840A>T (p.Ile3280=)
dbSNP
13g.32398452_32398455delCA16619800BRCA2c.*462_*465del (n.*462_*465del)
c.*1306_*1309del (n.*1306_*1309del)
c.9570_9573del (p.Lys3192AsnfsTer2)
c.*1501_*1504del (n.*1501_*1504del)
c.9888_9891del (p.Lys3298AsnfsTer2)
c.2355_2358del (p.Lys787AsnfsTer2)
n.2066_2069del
c.9939_9942del (p.Lys3315AsnfsTer2)
c.9947_9950del (n.9947_9950del)
c.9843_9846del (p.Lys3283AsnfsTer2)
ClinVar dbSNP
13g.32398450A=CA2082836081BRCA2c.*460A= (n.*460A=)
c.*1304A= (n.*1304A=)
c.9568A= (p.Lys3190=)
c.*1499A= (n.*1499A=)
c.9886A= (p.Lys3296=)
c.2353A= (p.Lys785=)
n.2064A=
c.9937A= (p.Lys3313=)
c.9945A= (n.9945A=)
c.9841A= (p.Lys3281=)
13g.32398450A>CCA387767182BRCA2c.*460A>C (n.*460A>C)
c.*1304A>C (n.*1304A>C)
c.9568A>C (p.Lys3190Gln)
c.*1499A>C (n.*1499A>C)
c.9886A>C (p.Lys3296Gln)
c.2353A>C (p.Lys785Gln)
n.2064A>C
c.9937A>C (p.Lys3313Gln)
c.9945A>C (n.9945A>C)
c.9841A>C (p.Lys3281Gln)
COSMIC COSMIC
13g.32398450A>GCA10577502BRCA2c.*460A>G (n.*460A>G)
c.*1304A>G (n.*1304A>G)
c.9568A>G (p.Lys3190Glu)
c.*1499A>G (n.*1499A>G)
c.9886A>G (p.Lys3296Glu)
c.2353A>G (p.Lys785Glu)
n.2064A>G
c.9937A>G (p.Lys3313Glu)
c.9945A>G (n.9945A>G)
c.9841A>G (p.Lys3281Glu)
ClinVar dbSNP
13g.32398450A>TCA387767187BRCA2c.*460A>T (n.*460A>T)
c.*1304A>T (n.*1304A>T)
c.9568A>T (p.Lys3190Ter)
c.*1499A>T (n.*1499A>T)
c.9886A>T (p.Lys3296Ter)
c.2353A>T (p.Lys785Ter)
n.2064A>T
c.9937A>T (p.Lys3313Ter)
c.9945A>T (n.9945A>T)
c.9841A>T (p.Lys3281Ter)
dbSNP
13g.32398451A=CA2082836086BRCA2c.*461A= (n.*461A=)
c.*1305A= (n.*1305A=)
c.9569A= (p.Lys3190=)
c.*1500A= (n.*1500A=)
c.9887A= (p.Lys3296=)
c.2354A= (p.Lys785=)
n.2065A=
c.9938A= (p.Lys3313=)
c.9946A= (n.9946A=)
c.9842A= (p.Lys3281=)
13g.32398451A>CCA387767190BRCA2c.*461A>C (n.*461A>C)
c.*1305A>C (n.*1305A>C)
c.9569A>C (p.Lys3190Thr)
c.*1500A>C (n.*1500A>C)
c.9887A>C (p.Lys3296Thr)
c.2354A>C (p.Lys785Thr)
n.2065A>C
c.9938A>C (p.Lys3313Thr)
c.9946A>C (n.9946A>C)
c.9842A>C (p.Lys3281Thr)
COSMIC COSMIC
13g.32398451A>GCA387767194BRCA2c.*461A>G (n.*461A>G)
c.*1305A>G (n.*1305A>G)
c.9569A>G (p.Lys3190Arg)
c.*1500A>G (n.*1500A>G)
c.9887A>G (p.Lys3296Arg)
c.2354A>G (p.Lys785Arg)
n.2065A>G
c.9938A>G (p.Lys3313Arg)
c.9946A>G (n.9946A>G)
c.9842A>G (p.Lys3281Arg)
ClinVar dbSNP
13g.32398451A>TCA387767197BRCA2c.*461A>T (n.*461A>T)
c.*1305A>T (n.*1305A>T)
c.9569A>T (p.Lys3190Met)
c.*1500A>T (n.*1500A>T)
c.9887A>T (p.Lys3296Met)
c.2354A>T (p.Lys785Met)
n.2065A>T
c.9938A>T (p.Lys3313Met)
c.9946A>T (n.9946A>T)
c.9842A>T (p.Lys3281Met)
13g.32398452G>ACA483440019BRCA2c.*462G>A (n.*462G>A)
c.*1306G>A (n.*1306G>A)
c.9570G>A (p.Lys3190=)
c.*1501G>A (n.*1501G>A)
c.9888G>A (p.Lys3296=)
c.2355G>A (p.Lys785=)
n.2066G>A
c.9939G>A (p.Lys3313=)
c.9947G>A (n.9947G>A)
c.9843G>A (p.Lys3281=)
ClinVar dbSNP gnomAD v2
13g.32398452G>CCA387767200BRCA2c.*462G>C (n.*462G>C)
c.*1306G>C (n.*1306G>C)
c.9570G>C (p.Lys3190Asn)
c.*1501G>C (n.*1501G>C)
c.9888G>C (p.Lys3296Asn)
c.2355G>C (p.Lys785Asn)
n.2066G>C
c.9939G>C (p.Lys3313Asn)
c.9947G>C (n.9947G>C)
c.9843G>C (p.Lys3281Asn)
ClinVar dbSNP
13g.32398452G=CA2082836096BRCA2c.*462G= (n.*462G=)
c.*1306G= (n.*1306G=)
c.9570G= (p.Lys3190=)
c.*1501G= (n.*1501G=)
c.9888G= (p.Lys3296=)
c.2355G= (p.Lys785=)
n.2066G=
c.9939G= (p.Lys3313=)
c.9947G= (n.9947G=)
c.9843G= (p.Lys3281=)
13g.32398452G>TCA387767204BRCA2c.*462G>T (n.*462G>T)
c.*1306G>T (n.*1306G>T)
c.9570G>T (p.Lys3190Asn)
c.*1501G>T (n.*1501G>T)
c.9888G>T (p.Lys3296Asn)
c.2355G>T (p.Lys785Asn)
n.2066G>T
c.9939G>T (p.Lys3313Asn)
c.9947G>T (n.9947G>T)
c.9843G>T (p.Lys3281Asn)
ClinVar dbSNP
13g.32398452_32398453delinsGACA2082836100BRCA2c.*462_*463delinsGA (n.*462_*463delinsGA)
c.*1306_*1307delinsGA (n.*1306_*1307delinsGA)
c.9570_9571delinsGA (p.Lys3190=)
c.*1501_*1502delinsGA (n.*1501_*1502delinsGA)
c.9888_9889delinsGA (p.Lys3296=)
c.2355_2356delinsGA (p.Lys785=)
n.2066_2067delinsGA
c.9939_9940delinsGA (p.Lys3313=)
c.9947_9948delinsGA (n.9947_9948delinsGA)
c.9843_9844delinsGA (p.Lys3281=)
13g.32398453A=CA2082836116BRCA2c.*463A= (n.*463A=)
c.*1307A= (n.*1307A=)
c.9571A= (p.Lys3191=)
c.*1502A= (n.*1502A=)
c.9889A= (p.Lys3297=)
c.2356A= (p.Lys786=)
n.2067A=
c.9940A= (p.Lys3314=)
c.9948A= (n.9948A=)
c.9844A= (p.Lys3282=)
13g.32398453A>CCA387767228BRCA2c.*463A>C (n.*463A>C)
c.*1307A>C (n.*1307A>C)
c.9571A>C (p.Lys3191Gln)
c.*1502A>C (n.*1502A>C)
c.9889A>C (p.Lys3297Gln)
c.2356A>C (p.Lys786Gln)
n.2067A>C
c.9940A>C (p.Lys3314Gln)
c.9948A>C (n.9948A>C)
c.9844A>C (p.Lys3282Gln)
13g.32398453A>GCA387767214BRCA2c.*463A>G (n.*463A>G)
c.*1307A>G (n.*1307A>G)
c.9571A>G (p.Lys3191Glu)
c.*1502A>G (n.*1502A>G)
c.9889A>G (p.Lys3297Glu)
c.2356A>G (p.Lys786Glu)
n.2067A>G
c.9940A>G (p.Lys3314Glu)
c.9948A>G (n.9948A>G)
c.9844A>G (p.Lys3282Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.32398453A>TCA387767225BRCA2c.*463A>T (n.*463A>T)
c.*1307A>T (n.*1307A>T)
c.9571A>T (p.Lys3191Ter)
c.*1502A>T (n.*1502A>T)
c.9889A>T (p.Lys3297Ter)
c.2356A>T (p.Lys786Ter)
n.2067A>T
c.9940A>T (p.Lys3314Ter)
c.9948A>T (n.9948A>T)
c.9844A>T (p.Lys3282Ter)
dbSNP
13g.32398458dupCA645586596BRCA2c.*468dup (n.*468dup)
c.*1312dup (n.*1312dup)
c.9576dup (p.Glu3193ArgfsTer11)
c.*1507dup (n.*1507dup)
c.9894dup (p.Glu3299ArgfsTer11)
c.2361dup (p.Glu788ArgfsTer11)
n.2072dup
c.9945dup (p.Glu3316ArgfsTer11)
c.9953dup (n.9953dup)
c.9849dup (p.Glu3284ArgfsTer11)
ClinVar dbSNP COSMIC COSMIC
13g.32398458delCA026341BRCA2c.*468del (n.*468del)
c.*1312del (n.*1312del)
c.9576del (p.Glu3193AsnfsTer2)
c.*1507del (n.*1507del)
c.9894del (p.Glu3299AsnfsTer2)
c.2361del (p.Glu788AsnfsTer2)
n.2072del
c.9945del (p.Glu3316AsnfsTer2)
c.9953del (n.9953del)
c.9849del (p.Glu3284AsnfsTer2)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398454A=CA2082836127BRCA2c.*464A= (n.*464A=)
c.*1308A= (n.*1308A=)
c.9572A= (p.Lys3191=)
c.*1503A= (n.*1503A=)
c.9890A= (p.Lys3297=)
c.2357A= (p.Lys786=)
n.2068A=
c.9941A= (p.Lys3314=)
c.9949A= (n.9949A=)
c.9845A= (p.Lys3282=)
13g.32398454A>CCA387767232BRCA2c.*464A>C (n.*464A>C)
c.*1308A>C (n.*1308A>C)
c.9572A>C (p.Lys3191Thr)
c.*1503A>C (n.*1503A>C)
c.9890A>C (p.Lys3297Thr)
c.2357A>C (p.Lys786Thr)
n.2068A>C
c.9941A>C (p.Lys3314Thr)
c.9949A>C (n.9949A>C)
c.9845A>C (p.Lys3282Thr)
13g.32398454A>GCA387767235BRCA2c.*464A>G (n.*464A>G)
c.*1308A>G (n.*1308A>G)
c.9572A>G (p.Lys3191Arg)
c.*1503A>G (n.*1503A>G)
c.9890A>G (p.Lys3297Arg)
c.2357A>G (p.Lys786Arg)
n.2068A>G
c.9941A>G (p.Lys3314Arg)
c.9949A>G (n.9949A>G)
c.9845A>G (p.Lys3282Arg)
ClinVar dbSNP
13g.32398454A>TCA387767238BRCA2c.*464A>T (n.*464A>T)
c.*1308A>T (n.*1308A>T)
c.9572A>T (p.Lys3191Ile)
c.*1503A>T (n.*1503A>T)
c.9890A>T (p.Lys3297Ile)
c.2357A>T (p.Lys786Ile)
n.2068A>T
c.9941A>T (p.Lys3314Ile)
c.9949A>T (n.9949A>T)
c.9845A>T (p.Lys3282Ile)
dbSNP
13g.32398455A=CA2082836132BRCA2c.*465A= (n.*465A=)
c.*1309A= (n.*1309A=)
c.9573A= (p.Lys3191=)
c.*1504A= (n.*1504A=)
c.9891A= (p.Lys3297=)
c.2358A= (p.Lys786=)
n.2069A=
c.9942A= (p.Lys3314=)
c.9950A= (n.9950A=)
c.9846A= (p.Lys3282=)
13g.32398455A>CCA16613986BRCA2c.*465A>C (n.*465A>C)
c.*1309A>C (n.*1309A>C)
c.9573A>C (p.Lys3191Asn)
c.*1504A>C (n.*1504A>C)
c.9891A>C (p.Lys3297Asn)
c.2358A>C (p.Lys786Asn)
n.2069A>C
c.9942A>C (p.Lys3314Asn)
c.9950A>C (n.9950A>C)
c.9846A>C (p.Lys3282Asn)
ClinVar dbSNP
13g.32398455A>GCA483440024BRCA2c.*465A>G (n.*465A>G)
c.*1309A>G (n.*1309A>G)
c.9573A>G (p.Lys3191=)
c.*1504A>G (n.*1504A>G)
c.9891A>G (p.Lys3297=)
c.2358A>G (p.Lys786=)
n.2069A>G
c.9942A>G (p.Lys3314=)
c.9950A>G (n.9950A>G)
c.9846A>G (p.Lys3282=)
13g.32398455A>TCA387767247BRCA2c.*465A>T (n.*465A>T)
c.*1309A>T (n.*1309A>T)
c.9573A>T (p.Lys3191Asn)
c.*1504A>T (n.*1504A>T)
c.9891A>T (p.Lys3297Asn)
c.2358A>T (p.Lys786Asn)
n.2069A>T
c.9942A>T (p.Lys3314Asn)
c.9950A>T (n.9950A>T)
c.9846A>T (p.Lys3282Asn)
dbSNP
13g.32398457_32398461delCA2573053833BRCA2c.*467_*471del (n.*467_*471del)
c.*1311_*1315del (n.*1311_*1315del)
c.9575_9579del (p.Lys3192ThrfsTer10)
c.*1506_*1510del (n.*1506_*1510del)
c.9893_9897del (p.Lys3298ThrfsTer10)
c.2360_2364del (p.Lys787ThrfsTer10)
n.2071_2075del
c.9944_9948del (p.Lys3315ThrfsTer10)
c.9952_9956del (n.9952_9956del)
c.9848_9852del (p.Lys3283ThrfsTer10)
ClinVar dbSNP
13g.32398456A>CCA387767251BRCA2c.*466A>C (n.*466A>C)
c.*1310A>C (n.*1310A>C)
c.9574A>C (p.Lys3192Gln)
c.*1505A>C (n.*1505A>C)
c.9892A>C (p.Lys3298Gln)
c.2359A>C (p.Lys787Gln)
n.2070A>C
c.9943A>C (p.Lys3315Gln)
c.9951A>C (n.9951A>C)
c.9847A>C (p.Lys3283Gln)
13g.32398456A>GCA387767254BRCA2c.*466A>G (n.*466A>G)
c.*1310A>G (n.*1310A>G)
c.9574A>G (p.Lys3192Glu)
c.*1505A>G (n.*1505A>G)
c.9892A>G (p.Lys3298Glu)
c.2359A>G (p.Lys787Glu)
n.2070A>G
c.9943A>G (p.Lys3315Glu)
c.9951A>G (n.9951A>G)
c.9847A>G (p.Lys3283Glu)
13g.32398456A>TCA387767256BRCA2c.*466A>T (n.*466A>T)
c.*1310A>T (n.*1310A>T)
c.9574A>T (p.Lys3192Ter)
c.*1505A>T (n.*1505A>T)
c.9892A>T (p.Lys3298Ter)
c.2359A>T (p.Lys787Ter)
n.2070A>T
c.9943A>T (p.Lys3315Ter)
c.9951A>T (n.9951A>T)
c.9847A>T (p.Lys3283Ter)
dbSNP
13g.32398456_32398459delinsAAAGCA2082836138BRCA2c.*466_*469delinsAAAG (n.*466_*469delinsAAAG)
c.*1310_*1313delinsAAAG (n.*1310_*1313delinsAAAG)
c.9574_9577delinsAAAG (p.Lys3192=)
c.*1505_*1508delinsAAAG (n.*1505_*1508delinsAAAG)
c.9892_9895delinsAAAG (p.Lys3298=)
c.2359_2362delinsAAAG (p.Lys787=)
n.2070_2073delinsAAAG
c.9943_9946delinsAAAG (p.Lys3315=)
c.9951_9954delinsAAAG (n.9951_9954delinsAAAG)
c.9847_9850delinsAAAG (p.Lys3283=)
13g.32398457A=CA2082836142BRCA2c.*467A= (n.*467A=)
c.*1311A= (n.*1311A=)
c.9575A= (p.Lys3192=)
c.*1506A= (n.*1506A=)
c.9893A= (p.Lys3298=)
c.2360A= (p.Lys787=)
n.2071A=
c.9944A= (p.Lys3315=)
c.9952A= (n.9952A=)
c.9848A= (p.Lys3283=)
13g.32398457A>CCA10579851BRCA2c.*467A>C (n.*467A>C)
c.*1311A>C (n.*1311A>C)
c.9575A>C (p.Lys3192Thr)
c.*1506A>C (n.*1506A>C)
c.9893A>C (p.Lys3298Thr)
c.2360A>C (p.Lys787Thr)
n.2071A>C
c.9944A>C (p.Lys3315Thr)
c.9952A>C (n.9952A>C)
c.9848A>C (p.Lys3283Thr)
ClinVar dbSNP
13g.32398457A>GCA387767260BRCA2c.*467A>G (n.*467A>G)
c.*1311A>G (n.*1311A>G)
c.9575A>G (p.Lys3192Arg)
c.*1506A>G (n.*1506A>G)
c.9893A>G (p.Lys3298Arg)
c.2360A>G (p.Lys787Arg)
n.2071A>G
c.9944A>G (p.Lys3315Arg)
c.9952A>G (n.9952A>G)
c.9848A>G (p.Lys3283Arg)
dbSNP gnomAD v2 gnomAD v4
13g.32398457A>TCA387767266BRCA2c.*467A>T (n.*467A>T)
c.*1311A>T (n.*1311A>T)
c.9575A>T (p.Lys3192Ile)
c.*1506A>T (n.*1506A>T)
c.9893A>T (p.Lys3298Ile)
c.2360A>T (p.Lys787Ile)
n.2071A>T
c.9944A>T (p.Lys3315Ile)
c.9952A>T (n.9952A>T)
c.9848A>T (p.Lys3283Ile)
dbSNP
13g.32398459_32398461delCA916080545BRCA2c.*469_*471del (n.*469_*471del)
c.*1313_*1315del (n.*1313_*1315del)
c.9577_9579del (p.Glu3193del)
c.*1508_*1510del (n.*1508_*1510del)
c.9895_9897del (p.Glu3299del)
c.2362_2364del (p.Glu788del)
n.2073_2075del
c.9946_9948del (p.Glu3316del)
c.9954_9956del (n.9954_9956del)
c.9850_9852del (p.Glu3284del)
ClinVar dbSNP
13g.32398458A=CA2082836147BRCA2c.*468A= (n.*468A=)
c.*1312A= (n.*1312A=)
c.9576A= (p.Lys3192=)
c.*1507A= (n.*1507A=)
c.9894A= (p.Lys3298=)
c.2361A= (p.Lys787=)
n.2072A=
c.9945A= (p.Lys3315=)
c.9953A= (n.9953A=)
c.9849A= (p.Lys3283=)
13g.32398458A>CCA387767267BRCA2c.*468A>C (n.*468A>C)
c.*1312A>C (n.*1312A>C)
c.9576A>C (p.Lys3192Asn)
c.*1507A>C (n.*1507A>C)
c.9894A>C (p.Lys3298Asn)
c.2361A>C (p.Lys787Asn)
n.2072A>C
c.9945A>C (p.Lys3315Asn)
c.9953A>C (n.9953A>C)
c.9849A>C (p.Lys3283Asn)
13g.32398458A>GCA026340BRCA2c.*468A>G (n.*468A>G)
c.*1312A>G (n.*1312A>G)
c.9576A>G (p.Lys3192=)
c.*1507A>G (n.*1507A>G)
c.9894A>G (p.Lys3298=)
c.2361A>G (p.Lys787=)
n.2072A>G
c.9945A>G (p.Lys3315=)
c.9953A>G (n.9953A>G)
c.9849A>G (p.Lys3283=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398458A>TCA387767274BRCA2c.*468A>T (n.*468A>T)
c.*1312A>T (n.*1312A>T)
c.9576A>T (p.Lys3192Asn)
c.*1507A>T (n.*1507A>T)
c.9894A>T (p.Lys3298Asn)
c.2361A>T (p.Lys787Asn)
n.2072A>T
c.9945A>T (p.Lys3315Asn)
c.9953A>T (n.9953A>T)
c.9849A>T (p.Lys3283Asn)
dbSNP
13g.32398459_32398460delCA2695217834BRCA2c.*469_*470del (n.*469_*470del)
c.*1313_*1314del (n.*1313_*1314del)
c.9577_9578del (p.Glu3193ThrfsTer10)
c.*1508_*1509del (n.*1508_*1509del)
c.9895_9896del (p.Glu3299ThrfsTer10)
c.2362_2363del (p.Glu788ThrfsTer10)
n.2073_2074del
c.9946_9947del (p.Glu3316ThrfsTer10)
c.9954_9955del (n.9954_9955del)
c.9850_9851del (p.Glu3284ThrfsTer10)
13g.32398459G>ACA387767277BRCA2c.*469G>A (n.*469G>A)
c.*1313G>A (n.*1313G>A)
c.9577G>A (p.Glu3193Lys)
c.*1508G>A (n.*1508G>A)
c.9895G>A (p.Glu3299Lys)
c.2362G>A (p.Glu788Lys)
n.2073G>A
c.9946G>A (p.Glu3316Lys)
c.9954G>A (n.9954G>A)
c.9850G>A (p.Glu3284Lys)
ClinVar dbSNP
13g.32398459G>CCA387767278BRCA2c.*469G>C (n.*469G>C)
c.*1313G>C (n.*1313G>C)
c.9577G>C (p.Glu3193Gln)
c.*1508G>C (n.*1508G>C)
c.9895G>C (p.Glu3299Gln)
c.2362G>C (p.Glu788Gln)
n.2073G>C
c.9946G>C (p.Glu3316Gln)
c.9954G>C (n.9954G>C)
c.9850G>C (p.Glu3284Gln)
dbSNP
13g.32398459G=CA2082836154BRCA2c.*469G= (n.*469G=)
c.*1313G= (n.*1313G=)
c.9577G= (p.Glu3193=)
c.*1508G= (n.*1508G=)
c.9895G= (p.Glu3299=)
c.2362G= (p.Glu788=)
n.2073G=
c.9946G= (p.Glu3316=)
c.9954G= (n.9954G=)
c.9850G= (p.Glu3284=)
13g.32398459G>TCA6941458BRCA2c.*469G>T (n.*469G>T)
c.*1313G>T (n.*1313G>T)
c.9577G>T (p.Glu3193Ter)
c.*1508G>T (n.*1508G>T)
c.9895G>T (p.Glu3299Ter)
c.2362G>T (p.Glu788Ter)
n.2073G>T
c.9946G>T (p.Glu3316Ter)
c.9954G>T (n.9954G>T)
c.9850G>T (p.Glu3284Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32398460A=CA2082836161BRCA2c.*470A= (n.*470A=)
c.*1314A= (n.*1314A=)
c.9578A= (p.Glu3193=)
c.*1509A= (n.*1509A=)
c.9896A= (p.Glu3299=)
c.2363A= (p.Glu788=)
n.2074A=
c.9947A= (p.Glu3316=)
c.9955A= (n.9955A=)
c.9851A= (p.Glu3284=)
13g.32398460A>CCA387767283BRCA2c.*470A>C (n.*470A>C)
c.*1314A>C (n.*1314A>C)
c.9578A>C (p.Glu3193Ala)
c.*1509A>C (n.*1509A>C)
c.9896A>C (p.Glu3299Ala)
c.2363A>C (p.Glu788Ala)
n.2074A>C
c.9947A>C (p.Glu3316Ala)
c.9955A>C (n.9955A>C)
c.9851A>C (p.Glu3284Ala)
dbSNP
13g.32398460A>GCA387767284BRCA2c.*470A>G (n.*470A>G)
c.*1314A>G (n.*1314A>G)
c.9578A>G (p.Glu3193Gly)
c.*1509A>G (n.*1509A>G)
c.9896A>G (p.Glu3299Gly)
c.2363A>G (p.Glu788Gly)
n.2074A>G
c.9947A>G (p.Glu3316Gly)
c.9955A>G (n.9955A>G)
c.9851A>G (p.Glu3284Gly)
dbSNP
13g.32398460A>TCA387767286BRCA2c.*470A>T (n.*470A>T)
c.*1314A>T (n.*1314A>T)
c.9578A>T (p.Glu3193Val)
c.*1509A>T (n.*1509A>T)
c.9896A>T (p.Glu3299Val)
c.2363A>T (p.Glu788Val)
n.2074A>T
c.9947A>T (p.Glu3316Val)
c.9955A>T (n.9955A>T)
c.9851A>T (p.Glu3284Val)
ClinVar dbSNP
13g.32398461A>CCA387767289BRCA2c.*471A>C (n.*471A>C)
c.*1315A>C (n.*1315A>C)
c.9579A>C (p.Glu3193Asp)
c.*1510A>C (n.*1510A>C)
c.9897A>C (p.Glu3299Asp)
c.2364A>C (p.Glu788Asp)
n.2075A>C
c.9948A>C (p.Glu3316Asp)
c.9956A>C (n.9956A>C)
c.9852A>C (p.Glu3284Asp)
dbSNP
13g.32398461A>GCA483440027BRCA2c.*471A>G (n.*471A>G)
c.*1315A>G (n.*1315A>G)
c.9579A>G (p.Glu3193=)
c.*1510A>G (n.*1510A>G)
c.9897A>G (p.Glu3299=)
c.2364A>G (p.Glu788=)
n.2075A>G
c.9948A>G (p.Glu3316=)
c.9956A>G (n.9956A>G)
c.9852A>G (p.Glu3284=)
ClinVar gnomAD v4
13g.32398461A>TCA387767292BRCA2c.*471A>T (n.*471A>T)
c.*1315A>T (n.*1315A>T)
c.9579A>T (p.Glu3193Asp)
c.*1510A>T (n.*1510A>T)
c.9897A>T (p.Glu3299Asp)
c.2364A>T (p.Glu788Asp)
n.2075A>T
c.9948A>T (p.Glu3316Asp)
c.9956A>T (n.9956A>T)
c.9852A>T (p.Glu3284Asp)
dbSNP
13g.32398462C>ACA387767301BRCA2c.*472C>A (n.*472C>A)
c.*1316C>A (n.*1316C>A)
c.9580C>A (p.Leu3194Met)
c.*1511C>A (n.*1511C>A)
c.9898C>A (p.Leu3300Met)
c.2365C>A (p.Leu789Met)
n.2076C>A
c.9949C>A (p.Leu3317Met)
c.9957C>A (n.9957C>A)
c.9853C>A (p.Leu3285Met)
dbSNP
13g.32398462C=CA2082836170BRCA2c.*472C= (n.*472C=)
c.*1316C= (n.*1316C=)
c.9580C= (p.Leu3194=)
c.*1511C= (n.*1511C=)
c.9898C= (p.Leu3300=)
c.2365C= (p.Leu789=)
n.2076C=
c.9949C= (p.Leu3317=)
c.9957C= (n.9957C=)
c.9853C= (p.Leu3285=)
13g.32398462C>GCA387767297BRCA2c.*472C>G (n.*472C>G)
c.*1316C>G (n.*1316C>G)
c.9580C>G (p.Leu3194Val)
c.*1511C>G (n.*1511C>G)
c.9898C>G (p.Leu3300Val)
c.2365C>G (p.Leu789Val)
n.2076C>G
c.9949C>G (p.Leu3317Val)
c.9957C>G (n.9957C>G)
c.9853C>G (p.Leu3285Val)
dbSNP
13g.32398462C>TCA026344BRCA2c.*472C>T (n.*472C>T)
c.*1316C>T (n.*1316C>T)
c.9580C>T (p.Leu3194=)
c.*1511C>T (n.*1511C>T)
c.9898C>T (p.Leu3300=)
c.2365C>T (p.Leu789=)
n.2076C>T
c.9949C>T (p.Leu3317=)
c.9957C>T (n.9957C>T)
c.9853C>T (p.Leu3285=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398463T>ACA387767306BRCA2c.*473T>A (n.*473T>A)
c.*1317T>A (n.*1317T>A)
c.9581T>A (p.Leu3194Gln)
c.*1512T>A (n.*1512T>A)
c.9899T>A (p.Leu3300Gln)
c.2366T>A (p.Leu789Gln)
n.2077T>A
c.9950T>A (p.Leu3317Gln)
c.9958T>A (n.9958T>A)
c.9854T>A (p.Leu3285Gln)
ClinVar dbSNP gnomAD v4
13g.32398463T>CCA387767309BRCA2c.*473T>C (n.*473T>C)
c.*1317T>C (n.*1317T>C)
c.9581T>C (p.Leu3194Pro)
c.*1512T>C (n.*1512T>C)
c.9899T>C (p.Leu3300Pro)
c.2366T>C (p.Leu789Pro)
n.2077T>C
c.9950T>C (p.Leu3317Pro)
c.9958T>C (n.9958T>C)
c.9854T>C (p.Leu3285Pro)
13g.32398463T>GCA387767319BRCA2c.*473T>G (n.*473T>G)
c.*1317T>G (n.*1317T>G)
c.9581T>G (p.Leu3194Arg)
c.*1512T>G (n.*1512T>G)
c.9899T>G (p.Leu3300Arg)
c.2366T>G (p.Leu789Arg)
n.2077T>G
c.9950T>G (p.Leu3317Arg)
c.9958T>G (n.9958T>G)
c.9854T>G (p.Leu3285Arg)
13g.32398463T=CA2082836175BRCA2c.*473T= (n.*473T=)
c.*1317T= (n.*1317T=)
c.9581T= (p.Leu3194=)
c.*1512T= (n.*1512T=)
c.9899T= (p.Leu3300=)
c.2366T= (p.Leu789=)
n.2077T=
c.9950T= (p.Leu3317=)
c.9958T= (n.9958T=)
c.9854T= (p.Leu3285=)
13g.32398464G>ACA336015BRCA2c.*474G>A (n.*474G>A)
c.*1318G>A (n.*1318G>A)
c.9582G>A (p.Leu3194=)
c.*1513G>A (n.*1513G>A)
c.9900G>A (p.Leu3300=)
c.2367G>A (p.Leu789=)
n.2078G>A
c.9951G>A (p.Leu3317=)
c.9959G>A (n.9959G>A)
c.9855G>A (p.Leu3285=)
ClinVar dbSNP
13g.32398464G>CCA483440029BRCA2c.*474G>C (n.*474G>C)
c.*1318G>C (n.*1318G>C)
c.9582G>C (p.Leu3194=)
c.*1513G>C (n.*1513G>C)
c.9900G>C (p.Leu3300=)
c.2367G>C (p.Leu789=)
n.2078G>C
c.9951G>C (p.Leu3317=)
c.9959G>C (n.9959G>C)
c.9855G>C (p.Leu3285=)
dbSNP
13g.32398464G=CA2082836184BRCA2c.*474G= (n.*474G=)
c.*1318G= (n.*1318G=)
c.9582G= (p.Leu3194=)
c.*1513G= (n.*1513G=)
c.9900G= (p.Leu3300=)
c.2367G= (p.Leu789=)
n.2078G=
c.9951G= (p.Leu3317=)
c.9959G= (n.9959G=)
c.9855G= (p.Leu3285=)
13g.32398464G>TCA483440030BRCA2c.*474G>T (n.*474G>T)
c.*1318G>T (n.*1318G>T)
c.9582G>T (p.Leu3194=)
c.*1513G>T (n.*1513G>T)
c.9900G>T (p.Leu3300=)
c.2367G>T (p.Leu789=)
n.2078G>T
c.9951G>T (p.Leu3317=)
c.9959G>T (n.9959G>T)
c.9855G>T (p.Leu3285=)
dbSNP
13g.32398465A=CA2082836192BRCA2c.*475A= (n.*475A=)
c.*1319A= (n.*1319A=)
c.9583A= (p.Asn3195=)
c.*1514A= (n.*1514A=)
c.9901A= (p.Asn3301=)
c.2368A= (p.Asn790=)
n.2079A=
c.9952A= (p.Asn3318=)
c.9960A= (n.9960A=)
c.9856A= (p.Asn3286=)
13g.32398465A>CCA026346BRCA2c.*475A>C (n.*475A>C)
c.*1319A>C (n.*1319A>C)
c.9583A>C (p.Asn3195His)
c.*1514A>C (n.*1514A>C)
c.9901A>C (p.Asn3301His)
c.2368A>C (p.Asn790His)
n.2079A>C
c.9952A>C (p.Asn3318His)
c.9960A>C (n.9960A>C)
c.9856A>C (p.Asn3286His)
ClinVar dbSNP gnomAD v4
13g.32398465A>GCA387767329BRCA2c.*475A>G (n.*475A>G)
c.*1319A>G (n.*1319A>G)
c.9583A>G (p.Asn3195Asp)
c.*1514A>G (n.*1514A>G)
c.9901A>G (p.Asn3301Asp)
c.2368A>G (p.Asn790Asp)
n.2079A>G
c.9952A>G (p.Asn3318Asp)
c.9960A>G (n.9960A>G)
c.9856A>G (p.Asn3286Asp)
gnomAD v4
13g.32398465A>TCA387767332BRCA2c.*475A>T (n.*475A>T)
c.*1319A>T (n.*1319A>T)
c.9583A>T (p.Asn3195Tyr)
c.*1514A>T (n.*1514A>T)
c.9901A>T (p.Asn3301Tyr)
c.2368A>T (p.Asn790Tyr)
n.2079A>T
c.9952A>T (p.Asn3318Tyr)
c.9960A>T (n.9960A>T)
c.9856A>T (p.Asn3286Tyr)
dbSNP
13g.32398466A=CA2082836202BRCA2c.*476A= (n.*476A=)
c.*1320A= (n.*1320A=)
c.9584A= (p.Asn3195=)
c.*1515A= (n.*1515A=)
c.9902A= (p.Asn3301=)
c.2369A= (p.Asn790=)
n.2080A=
c.9953A= (p.Asn3318=)
c.9961A= (n.9961A=)
c.9857A= (p.Asn3286=)
13g.32398466A>CCA387767336BRCA2c.*476A>C (n.*476A>C)
c.*1320A>C (n.*1320A>C)
c.9584A>C (p.Asn3195Thr)
c.*1515A>C (n.*1515A>C)
c.9902A>C (p.Asn3301Thr)
c.2369A>C (p.Asn790Thr)
n.2080A>C
c.9953A>C (p.Asn3318Thr)
c.9961A>C (n.9961A>C)
c.9857A>C (p.Asn3286Thr)
13g.32398466A>GCA16614407BRCA2c.*476A>G (n.*476A>G)
c.*1320A>G (n.*1320A>G)
c.9584A>G (p.Asn3195Ser)
c.*1515A>G (n.*1515A>G)
c.9902A>G (p.Asn3301Ser)
c.2369A>G (p.Asn790Ser)
n.2080A>G
c.9953A>G (p.Asn3318Ser)
c.9961A>G (n.9961A>G)
c.9857A>G (p.Asn3286Ser)
ClinVar dbSNP
13g.32398466A>TCA387767339BRCA2c.*476A>T (n.*476A>T)
c.*1320A>T (n.*1320A>T)
c.9584A>T (p.Asn3195Ile)
c.*1515A>T (n.*1515A>T)
c.9902A>T (p.Asn3301Ile)
c.2369A>T (p.Asn790Ile)
n.2080A>T
c.9953A>T (p.Asn3318Ile)
c.9961A>T (n.9961A>T)
c.9857A>T (p.Asn3286Ile)
dbSNP
13g.32398467T>ACA387767348BRCA2c.*477T>A (n.*477T>A)
c.*1321T>A (n.*1321T>A)
c.9585T>A (p.Asn3195Lys)
c.*1516T>A (n.*1516T>A)
c.9903T>A (p.Asn3301Lys)
c.2370T>A (p.Asn790Lys)
n.2081T>A
c.9954T>A (p.Asn3318Lys)
c.9962T>A (n.9962T>A)
c.9858T>A (p.Asn3286Lys)
dbSNP
13g.32398467T>CCA483440032BRCA2c.*477T>C (n.*477T>C)
c.*1321T>C (n.*1321T>C)
c.9585T>C (p.Asn3195=)
c.*1516T>C (n.*1516T>C)
c.9903T>C (p.Asn3301=)
c.2370T>C (p.Asn790=)
n.2081T>C
c.9954T>C (p.Asn3318=)
c.9962T>C (n.9962T>C)
c.9858T>C (p.Asn3286=)
dbSNP
13g.32398467T>GCA387767352BRCA2c.*477T>G (n.*477T>G)
c.*1321T>G (n.*1321T>G)
c.9585T>G (p.Asn3195Lys)
c.*1516T>G (n.*1516T>G)
c.9903T>G (p.Asn3301Lys)
c.2370T>G (p.Asn790Lys)
n.2081T>G
c.9954T>G (p.Asn3318Lys)
c.9962T>G (n.9962T>G)
c.9858T>G (p.Asn3286Lys)
dbSNP
13g.32398468T>ACA387767366BRCA2c.*478T>A (n.*478T>A)
c.*1322T>A (n.*1322T>A)
c.9586T>A (p.Ser3196Thr)
c.*1517T>A (n.*1517T>A)
c.9904T>A (p.Ser3302Thr)
c.2371T>A (p.Ser791Thr)
n.2082T>A
c.9955T>A (p.Ser3319Thr)
c.9963T>A (n.9963T>A)
c.9859T>A (p.Ser3287Thr)
dbSNP
13g.32398468T>CCA387767359BRCA2c.*478T>C (n.*478T>C)
c.*1322T>C (n.*1322T>C)
c.9586T>C (p.Ser3196Pro)
c.*1517T>C (n.*1517T>C)
c.9904T>C (p.Ser3302Pro)
c.2371T>C (p.Ser791Pro)
n.2082T>C
c.9955T>C (p.Ser3319Pro)
c.9963T>C (n.9963T>C)
c.9859T>C (p.Ser3287Pro)
dbSNP
13g.32398468T>GCA387767356BRCA2c.*478T>G (n.*478T>G)
c.*1322T>G (n.*1322T>G)
c.9586T>G (p.Ser3196Ala)
c.*1517T>G (n.*1517T>G)
c.9904T>G (p.Ser3302Ala)
c.2371T>G (p.Ser791Ala)
n.2082T>G
c.9955T>G (p.Ser3319Ala)
c.9963T>G (n.9963T>G)
c.9859T>G (p.Ser3287Ala)
13g.32398468_32398471delinsTCTCCA2082836208BRCA2c.*478_*481delinsTCTC (n.*478_*481delinsTCTC)
c.*1322_*1325delinsTCTC (n.*1322_*1325delinsTCTC)
c.9586_9589delinsTCTC (p.Ser3196=)
c.*1517_*1520delinsTCTC (n.*1517_*1520delinsTCTC)
c.9904_9907delinsTCTC (p.Ser3302=)
c.2371_2374delinsTCTC (p.Ser791=)
n.2082_2085delinsTCTC
c.9955_9958delinsTCTC (p.Ser3319=)
c.9963_9966delinsTCTC (n.9963_9966delinsTCTC)
c.9859_9862delinsTCTC (p.Ser3287=)
13g.32398469C>ACA247509281BRCA2c.*479C>A (n.*479C>A)
c.*1323C>A (n.*1323C>A)
c.9587C>A (p.Ser3196Tyr)
c.*1518C>A (n.*1518C>A)
c.9905C>A (p.Ser3302Tyr)
c.2372C>A (p.Ser791Tyr)
n.2083C>A
c.9956C>A (p.Ser3319Tyr)
c.9964C>A (n.9964C>A)
c.9860C>A (p.Ser3287Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
13g.32398469C=CA2082836214BRCA2c.*479C= (n.*479C=)
c.*1323C= (n.*1323C=)
c.9587C= (p.Ser3196=)
c.*1518C= (n.*1518C=)
c.9905C= (p.Ser3302=)
c.2372C= (p.Ser791=)
n.2083C=
c.9956C= (p.Ser3319=)
c.9964C= (n.9964C=)
c.9860C= (p.Ser3287=)
13g.32398469C>GCA387767367BRCA2c.*479C>G (n.*479C>G)
c.*1323C>G (n.*1323C>G)
c.9587C>G (p.Ser3196Cys)
c.*1518C>G (n.*1518C>G)
c.9905C>G (p.Ser3302Cys)
c.2372C>G (p.Ser791Cys)
n.2083C>G
c.9956C>G (p.Ser3319Cys)
c.9964C>G (n.9964C>G)
c.9860C>G (p.Ser3287Cys)
13g.32398469C>TCA026347BRCA2c.*479C>T (n.*479C>T)
c.*1323C>T (n.*1323C>T)
c.9587C>T (p.Ser3196Phe)
c.*1518C>T (n.*1518C>T)
c.9905C>T (p.Ser3302Phe)
c.2372C>T (p.Ser791Phe)
n.2083C>T
c.9956C>T (p.Ser3319Phe)
c.9964C>T (n.9964C>T)
c.9860C>T (p.Ser3287Phe)
ClinVar dbSNP gnomAD v4
13g.32398472_32398474delCA6941459BRCA2c.*482_*484del (n.*482_*484del)
c.*1326_*1328del (n.*1326_*1328del)
c.9590_9592del (p.Pro3197del)
c.*1521_*1523del (n.*1521_*1523del)
c.9908_9910del (p.Pro3303del)
c.2375_2377del (p.Pro792del)
n.2086_2088del
c.9959_9961del (p.Pro3320del)
c.9967_9969del (n.9967_9969del)
c.9863_9865del (p.Pro3288del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.32398470T>ACA483440034BRCA2c.*480T>A (n.*480T>A)
c.*1324T>A (n.*1324T>A)
c.9588T>A (p.Ser3196=)
c.*1519T>A (n.*1519T>A)
c.9906T>A (p.Ser3302=)
c.2373T>A (p.Ser791=)
n.2084T>A
c.9957T>A (p.Ser3319=)
c.9965T>A (n.9965T>A)
c.9861T>A (p.Ser3287=)
13g.32398470T>CCA483440035BRCA2c.*480T>C (n.*480T>C)
c.*1324T>C (n.*1324T>C)
c.9588T>C (p.Ser3196=)
c.*1519T>C (n.*1519T>C)
c.9906T>C (p.Ser3302=)
c.2373T>C (p.Ser791=)
n.2084T>C
c.9957T>C (p.Ser3319=)
c.9965T>C (n.9965T>C)
c.9861T>C (p.Ser3287=)
13g.32398470T>GCA483440036BRCA2c.*480T>G (n.*480T>G)
c.*1324T>G (n.*1324T>G)
c.9588T>G (p.Ser3196=)
c.*1519T>G (n.*1519T>G)
c.9906T>G (p.Ser3302=)
c.2373T>G (p.Ser791=)
n.2084T>G
c.9957T>G (p.Ser3319=)
c.9965T>G (n.9965T>G)
c.9861T>G (p.Ser3287=)
13g.32398471C>ACA387767373BRCA2c.*481C>A (n.*481C>A)
c.*1325C>A (n.*1325C>A)
c.9589C>A (p.Pro3197Thr)
c.*1520C>A (n.*1520C>A)
c.9907C>A (p.Pro3303Thr)
c.2374C>A (p.Pro792Thr)
n.2085C>A
c.9958C>A (p.Pro3320Thr)
c.9966C>A (n.9966C>A)
c.9862C>A (p.Pro3288Thr)
dbSNP
13g.32398471C=CA2082836220BRCA2c.*481C= (n.*481C=)
c.*1325C= (n.*1325C=)
c.9589C= (p.Pro3197=)
c.*1520C= (n.*1520C=)
c.9907C= (p.Pro3303=)
c.2374C= (p.Pro792=)
n.2085C=
c.9958C= (p.Pro3320=)
c.9966C= (n.9966C=)
c.9862C= (p.Pro3288=)
13g.32398471C>GCA387767381BRCA2c.*481C>G (n.*481C>G)
c.*1325C>G (n.*1325C>G)
c.9589C>G (p.Pro3197Ala)
c.*1520C>G (n.*1520C>G)
c.9907C>G (p.Pro3303Ala)
c.2374C>G (p.Pro792Ala)
n.2085C>G
c.9958C>G (p.Pro3320Ala)
c.9966C>G (n.9966C>G)
c.9862C>G (p.Pro3288Ala)
dbSNP
13g.32398471C>TCA387767384BRCA2c.*481C>T (n.*481C>T)
c.*1325C>T (n.*1325C>T)
c.9589C>T (p.Pro3197Ser)
c.*1520C>T (n.*1520C>T)
c.9907C>T (p.Pro3303Ser)
c.2374C>T (p.Pro792Ser)
n.2085C>T
c.9958C>T (p.Pro3320Ser)
c.9966C>T (n.9966C>T)
c.9862C>T (p.Pro3288Ser)
ClinVar dbSNP
13g.32398472C>ACA387767385BRCA2c.*482C>A (n.*482C>A)
c.*1326C>A (n.*1326C>A)
c.9590C>A (p.Pro3197His)
c.*1521C>A (n.*1521C>A)
c.9908C>A (p.Pro3303His)
c.2375C>A (p.Pro792His)
n.2086C>A
c.9959C>A (p.Pro3320His)
c.9967C>A (n.9967C>A)
c.9863C>A (p.Pro3288His)
dbSNP
13g.32398472C=CA2082836227BRCA2c.*482C= (n.*482C=)
c.*1326C= (n.*1326C=)
c.9590C= (p.Pro3197=)
c.*1521C= (n.*1521C=)
c.9908C= (p.Pro3303=)
c.2375C= (p.Pro792=)
n.2086C=
c.9959C= (p.Pro3320=)
c.9967C= (n.9967C=)
c.9863C= (p.Pro3288=)
13g.32398472C>GCA387767386BRCA2c.*482C>G (n.*482C>G)
c.*1326C>G (n.*1326C>G)
c.9590C>G (p.Pro3197Arg)
c.*1521C>G (n.*1521C>G)
c.9908C>G (p.Pro3303Arg)
c.2375C>G (p.Pro792Arg)
n.2086C>G
c.9959C>G (p.Pro3320Arg)
c.9967C>G (n.9967C>G)
c.9863C>G (p.Pro3288Arg)
ClinVar dbSNP
13g.32398472C>TCA387767387BRCA2c.*482C>T (n.*482C>T)
c.*1326C>T (n.*1326C>T)
c.9590C>T (p.Pro3197Leu)
c.*1521C>T (n.*1521C>T)
c.9908C>T (p.Pro3303Leu)
c.2375C>T (p.Pro792Leu)
n.2086C>T
c.9959C>T (p.Pro3320Leu)
c.9967C>T (n.9967C>T)
c.9863C>T (p.Pro3288Leu)
ClinVar dbSNP
13g.32398473T>ACA483440038BRCA2c.*483T>A (n.*483T>A)
c.*1327T>A (n.*1327T>A)
c.9591T>A (p.Pro3197=)
c.*1522T>A (n.*1522T>A)
c.9909T>A (p.Pro3303=)
c.2376T>A (p.Pro792=)
n.2087T>A
c.9960T>A (p.Pro3320=)
c.9968T>A (n.9968T>A)
c.9864T>A (p.Pro3288=)
ClinVar dbSNP
13g.32398473T>CCA483440040BRCA2c.*483T>C (n.*483T>C)
c.*1327T>C (n.*1327T>C)
c.9591T>C (p.Pro3197=)
c.*1522T>C (n.*1522T>C)
c.9909T>C (p.Pro3303=)
c.2376T>C (p.Pro792=)
n.2087T>C
c.9960T>C (p.Pro3320=)
c.9968T>C (n.9968T>C)
c.9864T>C (p.Pro3288=)
dbSNP
13g.32398473T>GCA483440039BRCA2c.*483T>G (n.*483T>G)
c.*1327T>G (n.*1327T>G)
c.9591T>G (p.Pro3197=)
c.*1522T>G (n.*1522T>G)
c.9909T>G (p.Pro3303=)
c.2376T>G (p.Pro792=)
n.2087T>G
c.9960T>G (p.Pro3320=)
c.9968T>G (n.9968T>G)
c.9864T>G (p.Pro3288=)
dbSNP
13g.32398474C>ACA387767388BRCA2c.*484C>A (n.*484C>A)
c.*1328C>A (n.*1328C>A)
c.9592C>A (p.Gln3198Lys)
c.*1523C>A (n.*1523C>A)
c.9910C>A (p.Gln3304Lys)
c.2377C>A (p.Gln793Lys)
n.2088C>A
c.9961C>A (p.Gln3321Lys)
c.9969C>A (n.9969C>A)
c.9865C>A (p.Gln3289Lys)
dbSNP
13g.32398474C=CA2082836234BRCA2c.*484C= (n.*484C=)
c.*1328C= (n.*1328C=)
c.9592C= (p.Gln3198=)
c.*1523C= (n.*1523C=)
c.9910C= (p.Gln3304=)
c.2377C= (p.Gln793=)
n.2088C=
c.9961C= (p.Gln3321=)
c.9969C= (n.9969C=)
c.9865C= (p.Gln3289=)
13g.32398474C>GCA387767389BRCA2c.*484C>G (n.*484C>G)
c.*1328C>G (n.*1328C>G)
c.9592C>G (p.Gln3198Glu)
c.*1523C>G (n.*1523C>G)
c.9910C>G (p.Gln3304Glu)
c.2377C>G (p.Gln793Glu)
n.2088C>G
c.9961C>G (p.Gln3321Glu)
c.9969C>G (n.9969C>G)
c.9865C>G (p.Gln3289Glu)
dbSNP
13g.32398474C>TCA387767390BRCA2c.*484C>T (n.*484C>T)
c.*1328C>T (n.*1328C>T)
c.9592C>T (p.Gln3198Ter)
c.*1523C>T (n.*1523C>T)
c.9910C>T (p.Gln3304Ter)
c.2377C>T (p.Gln793Ter)
n.2088C>T
c.9961C>T (p.Gln3321Ter)
c.9969C>T (n.9969C>T)
c.9865C>T (p.Gln3289Ter)
ClinVar dbSNP gnomAD v4
13g.32398475A>CCA387767398BRCA2c.*485A>C (n.*485A>C)
c.*1329A>C (n.*1329A>C)
c.9593A>C (p.Gln3198Pro)
c.*1524A>C (n.*1524A>C)
c.9911A>C (p.Gln3304Pro)
c.2378A>C (p.Gln793Pro)
n.2089A>C
c.9962A>C (p.Gln3321Pro)
c.9970A>C (n.9970A>C)
c.9866A>C (p.Gln3289Pro)
13g.32398475A>GCA387767397BRCA2c.*485A>G (n.*485A>G)
c.*1329A>G (n.*1329A>G)
c.9593A>G (p.Gln3198Arg)
c.*1524A>G (n.*1524A>G)
c.9911A>G (p.Gln3304Arg)
c.2378A>G (p.Gln793Arg)
n.2089A>G
c.9962A>G (p.Gln3321Arg)
c.9970A>G (n.9970A>G)
c.9866A>G (p.Gln3289Arg)
13g.32398475A>TCA387767394BRCA2c.*485A>T (n.*485A>T)
c.*1329A>T (n.*1329A>T)
c.9593A>T (p.Gln3198Leu)
c.*1524A>T (n.*1524A>T)
c.9911A>T (p.Gln3304Leu)
c.2378A>T (p.Gln793Leu)
n.2089A>T
c.9962A>T (p.Gln3321Leu)
c.9970A>T (n.9970A>T)
c.9866A>T (p.Gln3289Leu)
dbSNP
13g.32398476G>ACA483440043BRCA2c.*486G>A (n.*486G>A)
c.*1330G>A (n.*1330G>A)
c.9594G>A (p.Gln3198=)
c.*1525G>A (n.*1525G>A)
c.9912G>A (p.Gln3304=)
c.2379G>A (p.Gln793=)
n.2090G>A
c.9963G>A (p.Gln3321=)
c.9971G>A (n.9971G>A)
c.9867G>A (p.Gln3289=)
dbSNP
13g.32398476G>CCA387767400BRCA2c.*486G>C (n.*486G>C)
c.*1330G>C (n.*1330G>C)
c.9594G>C (p.Gln3198His)
c.*1525G>C (n.*1525G>C)
c.9912G>C (p.Gln3304His)
c.2379G>C (p.Gln793His)
n.2090G>C
c.9963G>C (p.Gln3321His)
c.9971G>C (n.9971G>C)
c.9867G>C (p.Gln3289His)
dbSNP
13g.32398476G=CA2082836243BRCA2c.*486G= (n.*486G=)
c.*1330G= (n.*1330G=)
c.9594G= (p.Gln3198=)
c.*1525G= (n.*1525G=)
c.9912G= (p.Gln3304=)
c.2379G= (p.Gln793=)
n.2090G=
c.9963G= (p.Gln3321=)
c.9971G= (n.9971G=)
c.9867G= (p.Gln3289=)
13g.32398476G>TCA387767403BRCA2c.*486G>T (n.*486G>T)
c.*1330G>T (n.*1330G>T)
c.9594G>T (p.Gln3198His)
c.*1525G>T (n.*1525G>T)
c.9912G>T (p.Gln3304His)
c.2379G>T (p.Gln793His)
n.2090G>T
c.9963G>T (p.Gln3321His)
c.9971G>T (n.9971G>T)
c.9867G>T (p.Gln3289His)
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.32398477A>CCA387767406BRCA2c.*487A>C (n.*487A>C)
c.*1331A>C (n.*1331A>C)
c.9595A>C (p.Met3199Leu)
c.*1526A>C (n.*1526A>C)
c.9913A>C (p.Met3305Leu)
c.2380A>C (p.Met794Leu)
n.2091A>C
c.9964A>C (p.Met3322Leu)
c.9972A>C (n.9972A>C)
c.9868A>C (p.Met3290Leu)
dbSNP
13g.32398477A>GCA387767409BRCA2c.*487A>G (n.*487A>G)
c.*1331A>G (n.*1331A>G)
c.9595A>G (p.Met3199Val)
c.*1526A>G (n.*1526A>G)
c.9913A>G (p.Met3305Val)
c.2380A>G (p.Met794Val)
n.2091A>G
c.9964A>G (p.Met3322Val)
c.9972A>G (n.9972A>G)
c.9868A>G (p.Met3290Val)
13g.32398477A>TCA387767410BRCA2c.*487A>T (n.*487A>T)
c.*1331A>T (n.*1331A>T)
c.9595A>T (p.Met3199Leu)
c.*1526A>T (n.*1526A>T)
c.9913A>T (p.Met3305Leu)
c.2380A>T (p.Met794Leu)
n.2091A>T
c.9964A>T (p.Met3322Leu)
c.9972A>T (n.9972A>T)
c.9868A>T (p.Met3290Leu)
dbSNP
13g.32398478T>ACA387767415BRCA2c.*488T>A (n.*488T>A)
c.*1332T>A (n.*1332T>A)
c.9596T>A (p.Met3199Lys)
c.*1527T>A (n.*1527T>A)
c.9914T>A (p.Met3305Lys)
c.2381T>A (p.Met794Lys)
n.2092T>A
c.9965T>A (p.Met3322Lys)
c.9973T>A (n.9973T>A)
c.9869T>A (p.Met3290Lys)
dbSNP
13g.32398478T>CCA387767419BRCA2c.*488T>C (n.*488T>C)
c.*1332T>C (n.*1332T>C)
c.9596T>C (p.Met3199Thr)
c.*1527T>C (n.*1527T>C)
c.9914T>C (p.Met3305Thr)
c.2381T>C (p.Met794Thr)
n.2092T>C
c.9965T>C (p.Met3322Thr)
c.9973T>C (n.9973T>C)
c.9869T>C (p.Met3290Thr)
ClinVar dbSNP
13g.32398478T>GCA387767423BRCA2c.*488T>G (n.*488T>G)
c.*1332T>G (n.*1332T>G)
c.9596T>G (p.Met3199Arg)
c.*1527T>G (n.*1527T>G)
c.9914T>G (p.Met3305Arg)
c.2381T>G (p.Met794Arg)
n.2092T>G
c.9965T>G (p.Met3322Arg)
c.9973T>G (n.9973T>G)
c.9869T>G (p.Met3290Arg)
dbSNP
13g.32398478T=CA2082836248BRCA2c.*488T= (n.*488T=)
c.*1332T= (n.*1332T=)
c.9596T= (p.Met3199=)
c.*1527T= (n.*1527T=)
c.9914T= (p.Met3305=)
c.2381T= (p.Met794=)
n.2092T=
c.9965T= (p.Met3322=)
c.9973T= (n.9973T=)
c.9869T= (p.Met3290=)
13g.32398479G>ACA387767426BRCA2c.*489G>A (n.*489G>A)
c.*1333G>A (n.*1333G>A)
c.9597G>A (p.Met3199Ile)
c.*1528G>A (n.*1528G>A)
c.9915G>A (p.Met3305Ile)
c.2382G>A (p.Met794Ile)
n.2093G>A
c.9966G>A (p.Met3322Ile)
c.9974G>A (n.9974G>A)
c.9870G>A (p.Met3290Ile)
dbSNP
13g.32398479G>CCA387767429BRCA2c.*489G>C (n.*489G>C)
c.*1333G>C (n.*1333G>C)
c.9597G>C (p.Met3199Ile)
c.*1528G>C (n.*1528G>C)
c.9915G>C (p.Met3305Ile)
c.2382G>C (p.Met794Ile)
n.2093G>C
c.9966G>C (p.Met3322Ile)
c.9974G>C (n.9974G>C)
c.9870G>C (p.Met3290Ile)
dbSNP
13g.32398479G>TCA387767430BRCA2c.*489G>T (n.*489G>T)
c.*1333G>T (n.*1333G>T)
c.9597G>T (p.Met3199Ile)
c.*1528G>T (n.*1528G>T)
c.9915G>T (p.Met3305Ile)
c.2382G>T (p.Met794Ile)
n.2093G>T
c.9966G>T (p.Met3322Ile)
c.9974G>T (n.9974G>T)
c.9870G>T (p.Met3290Ile)
ClinVar dbSNP COSMIC
13g.32398480A>CCA387767431BRCA2c.*490A>C (n.*490A>C)
c.*1334A>C (n.*1334A>C)
c.9598A>C (p.Thr3200Pro)
c.*1529A>C (n.*1529A>C)
c.9916A>C (p.Thr3306Pro)
c.2383A>C (p.Thr795Pro)
n.2094A>C
c.9967A>C (p.Thr3323Pro)
c.9975A>C (n.9975A>C)
c.9871A>C (p.Thr3291Pro)
dbSNP
13g.32398480A>GCA387767432BRCA2c.*490A>G (n.*490A>G)
c.*1334A>G (n.*1334A>G)
c.9598A>G (p.Thr3200Ala)
c.*1529A>G (n.*1529A>G)
c.9916A>G (p.Thr3306Ala)
c.2383A>G (p.Thr795Ala)
n.2094A>G
c.9967A>G (p.Thr3323Ala)
c.9975A>G (n.9975A>G)
c.9871A>G (p.Thr3291Ala)
13g.32398480A>TCA387767435BRCA2c.*490A>T (n.*490A>T)
c.*1334A>T (n.*1334A>T)
c.9598A>T (p.Thr3200Ser)
c.*1529A>T (n.*1529A>T)
c.9916A>T (p.Thr3306Ser)
c.2383A>T (p.Thr795Ser)
n.2094A>T
c.9967A>T (p.Thr3323Ser)
c.9975A>T (n.9975A>T)
c.9871A>T (p.Thr3291Ser)
dbSNP
13g.32398480dupCA2622602759BRCA2c.*490dup (n.*490dup)
c.*1334dup (n.*1334dup)
c.9598dup (p.Thr3200AsnfsTer4)
c.*1529dup (n.*1529dup)
c.9916dup (p.Thr3306AsnfsTer4)
c.2383dup (p.Thr795AsnfsTer4)
n.2094dup
c.9967dup (p.Thr3323AsnfsTer4)
c.9975dup (n.9975dup)
c.9871dup (p.Thr3291AsnfsTer4)
gnomAD v4
13g.32398481C>ACA387767438BRCA2c.*491C>A (n.*491C>A)
c.*1335C>A (n.*1335C>A)
c.9599C>A (p.Thr3200Asn)
c.*1530C>A (n.*1530C>A)
c.9917C>A (p.Thr3306Asn)
c.2384C>A (p.Thr795Asn)
n.2095C>A
c.9968C>A (p.Thr3323Asn)
c.9976C>A (n.9976C>A)
c.9872C>A (p.Thr3291Asn)
dbSNP
13g.32398481C=CA2082836257BRCA2c.*491C= (n.*491C=)
c.*1335C= (n.*1335C=)
c.9599C= (p.Thr3200=)
c.*1530C= (n.*1530C=)
c.9917C= (p.Thr3306=)
c.2384C= (p.Thr795=)
n.2095C=
c.9968C= (p.Thr3323=)
c.9976C= (n.9976C=)
c.9872C= (p.Thr3291=)
13g.32398481C>GCA387767443BRCA2c.*491C>G (n.*491C>G)
c.*1335C>G (n.*1335C>G)
c.9599C>G (p.Thr3200Ser)
c.*1530C>G (n.*1530C>G)
c.9917C>G (p.Thr3306Ser)
c.2384C>G (p.Thr795Ser)
n.2095C>G
c.9968C>G (p.Thr3323Ser)
c.9976C>G (n.9976C>G)
c.9872C>G (p.Thr3291Ser)
dbSNP
13g.32398481C>TCA387767437BRCA2c.*491C>T (n.*491C>T)
c.*1335C>T (n.*1335C>T)
c.9599C>T (p.Thr3200Ile)
c.*1530C>T (n.*1530C>T)
c.9917C>T (p.Thr3306Ile)
c.2384C>T (p.Thr795Ile)
n.2095C>T
c.9968C>T (p.Thr3323Ile)
c.9976C>T (n.9976C>T)
c.9872C>T (p.Thr3291Ile)
ClinVar dbSNP
13g.32398482T>ACA483440050BRCA2c.*492T>A (n.*492T>A)
c.*1336T>A (n.*1336T>A)
c.9600T>A (p.Thr3200=)
c.*1531T>A (n.*1531T>A)
c.9918T>A (p.Thr3306=)
c.2385T>A (p.Thr795=)
n.2096T>A
c.9969T>A (p.Thr3323=)
c.9977T>A (n.9977T>A)
c.9873T>A (p.Thr3291=)
ClinVar
13g.32398482T>CCA483440049BRCA2c.*492T>C (n.*492T>C)
c.*1336T>C (n.*1336T>C)
c.9600T>C (p.Thr3200=)
c.*1531T>C (n.*1531T>C)
c.9918T>C (p.Thr3306=)
c.2385T>C (p.Thr795=)
n.2096T>C
c.9969T>C (p.Thr3323=)
c.9977T>C (n.9977T>C)
c.9873T>C (p.Thr3291=)
13g.32398482T>GCA483440048BRCA2c.*492T>G (n.*492T>G)
c.*1336T>G (n.*1336T>G)
c.9600T>G (p.Thr3200=)
c.*1531T>G (n.*1531T>G)
c.9918T>G (p.Thr3306=)
c.2385T>G (p.Thr795=)
n.2096T>G
c.9969T>G (p.Thr3323=)
c.9977T>G (n.9977T>G)
c.9873T>G (p.Thr3291=)
13g.32398483C>ACA387767447BRCA2c.*493C>A (n.*493C>A)
c.*1337C>A (n.*1337C>A)
c.9601C>A (p.Pro3201Thr)
c.*1532C>A (n.*1532C>A)
c.9919C>A (p.Pro3307Thr)
c.2386C>A (p.Pro796Thr)
n.2097C>A
c.9970C>A (p.Pro3324Thr)
c.9978C>A (n.9978C>A)
c.9874C>A (p.Pro3292Thr)
dbSNP
13g.32398483C>GCA387767450BRCA2c.*493C>G (n.*493C>G)
c.*1337C>G (n.*1337C>G)
c.9601C>G (p.Pro3201Ala)
c.*1532C>G (n.*1532C>G)
c.9919C>G (p.Pro3307Ala)
c.2386C>G (p.Pro796Ala)
n.2097C>G
c.9970C>G (p.Pro3324Ala)
c.9978C>G (n.9978C>G)
c.9874C>G (p.Pro3292Ala)
dbSNP gnomAD v4
13g.32398483C>TCA387767454BRCA2c.*493C>T (n.*493C>T)
c.*1337C>T (n.*1337C>T)
c.9601C>T (p.Pro3201Ser)
c.*1532C>T (n.*1532C>T)
c.9919C>T (p.Pro3307Ser)
c.2386C>T (p.Pro796Ser)
n.2097C>T
c.9970C>T (p.Pro3324Ser)
c.9978C>T (n.9978C>T)
c.9874C>T (p.Pro3292Ser)
ClinVar dbSNP
13g.32398484C>ACA387767460BRCA2c.*494C>A (n.*494C>A)
c.*1338C>A (n.*1338C>A)
c.9602C>A (p.Pro3201Gln)
c.*1533C>A (n.*1533C>A)
c.9920C>A (p.Pro3307Gln)
c.2387C>A (p.Pro796Gln)
n.2098C>A
c.9971C>A (p.Pro3324Gln)
c.9979C>A (n.9979C>A)
c.9875C>A (p.Pro3292Gln)
ClinVar dbSNP
13g.32398484C=CA2082836267BRCA2c.*494C= (n.*494C=)
c.*1338C= (n.*1338C=)
c.9602C= (p.Pro3201=)
c.*1533C= (n.*1533C=)
c.9920C= (p.Pro3307=)
c.2387C= (p.Pro796=)
n.2098C=
c.9971C= (p.Pro3324=)
c.9979C= (n.9979C=)
c.9875C= (p.Pro3292=)
13g.32398484C>GCA387767464BRCA2c.*494C>G (n.*494C>G)
c.*1338C>G (n.*1338C>G)
c.9602C>G (p.Pro3201Arg)
c.*1533C>G (n.*1533C>G)
c.9920C>G (p.Pro3307Arg)
c.2387C>G (p.Pro796Arg)
n.2098C>G
c.9971C>G (p.Pro3324Arg)
c.9979C>G (n.9979C>G)
c.9875C>G (p.Pro3292Arg)
ClinVar dbSNP
13g.32398484C>TCA387767467BRCA2c.*494C>T (n.*494C>T)
c.*1338C>T (n.*1338C>T)
c.9602C>T (p.Pro3201Leu)
c.*1533C>T (n.*1533C>T)
c.9920C>T (p.Pro3307Leu)
c.2387C>T (p.Pro796Leu)
n.2098C>T
c.9971C>T (p.Pro3324Leu)
c.9979C>T (n.9979C>T)
c.9875C>T (p.Pro3292Leu)
ClinVar dbSNP COSMIC COSMIC
13g.32398485A=CA2082836285BRCA2c.*495A= (n.*495A=)
c.*1339A= (n.*1339A=)
c.9603A= (p.Pro3201=)
c.*1534A= (n.*1534A=)
c.9921A= (p.Pro3307=)
c.2388A= (p.Pro796=)
n.2099A=
c.9972A= (p.Pro3324=)
c.9980A= (n.9980A=)
c.9876A= (p.Pro3292=)
13g.32398485A>CCA483440053BRCA2c.*495A>C (n.*495A>C)
c.*1339A>C (n.*1339A>C)
c.9603A>C (p.Pro3201=)
c.*1534A>C (n.*1534A>C)
c.9921A>C (p.Pro3307=)
c.2388A>C (p.Pro796=)
n.2099A>C
c.9972A>C (p.Pro3324=)
c.9980A>C (n.9980A>C)
c.9876A>C (p.Pro3292=)
13g.32398485A>GCA026349BRCA2c.*495A>G (n.*495A>G)
c.*1339A>G (n.*1339A>G)
c.9603A>G (p.Pro3201=)
c.*1534A>G (n.*1534A>G)
c.9921A>G (p.Pro3307=)
c.2388A>G (p.Pro796=)
n.2099A>G
c.9972A>G (p.Pro3324=)
c.9980A>G (n.9980A>G)
c.9876A>G (p.Pro3292=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.32398485A>TCA483440055BRCA2c.*495A>T (n.*495A>T)
c.*1339A>T (n.*1339A>T)
c.9603A>T (p.Pro3201=)
c.*1534A>T (n.*1534A>T)
c.9921A>T (p.Pro3307=)
c.2388A>T (p.Pro796=)
n.2099A>T
c.9972A>T (p.Pro3324=)
c.9980A>T (n.9980A>T)
c.9876A>T (p.Pro3292=)
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.32398486T>ACA387767471BRCA2c.*496T>A (n.*496T>A)
c.*1340T>A (n.*1340T>A)
c.9604T>A (p.Phe3202Ile)
c.*1535T>A (n.*1535T>A)
c.9922T>A (p.Phe3308Ile)
c.2389T>A (p.Phe797Ile)
n.2100T>A
c.9973T>A (p.Phe3325Ile)
c.9981T>A (n.9981T>A)
c.9877T>A (p.Phe3293Ile)
dbSNP
13g.32398486T>CCA387767473BRCA2c.*496T>C (n.*496T>C)
c.*1340T>C (n.*1340T>C)
c.9604T>C (p.Phe3202Leu)
c.*1535T>C (n.*1535T>C)
c.9922T>C (p.Phe3308Leu)
c.2389T>C (p.Phe797Leu)
n.2100T>C
c.9973T>C (p.Phe3325Leu)
c.9981T>C (n.9981T>C)
c.9877T>C (p.Phe3293Leu)
ClinVar dbSNP
13g.32398486T>GCA387767475BRCA2c.*496T>G (n.*496T>G)
c.*1340T>G (n.*1340T>G)
c.9604T>G (p.Phe3202Val)
c.*1535T>G (n.*1535T>G)
c.9922T>G (p.Phe3308Val)
c.2389T>G (p.Phe797Val)
n.2100T>G
c.9973T>G (p.Phe3325Val)
c.9981T>G (n.9981T>G)
c.9877T>G (p.Phe3293Val)
ClinVar dbSNP
13g.32398486T=CA2082836289BRCA2c.*496T= (n.*496T=)
c.*1340T= (n.*1340T=)
c.9604T= (p.Phe3202=)
c.*1535T= (n.*1535T=)
c.9922T= (p.Phe3308=)
c.2389T= (p.Phe797=)
n.2100T=
c.9973T= (p.Phe3325=)
c.9981T= (n.9981T=)
c.9877T= (p.Phe3293=)
13g.32398488dupCA2695217835BRCA2c.*498dup (n.*498dup)
c.*1342dup (n.*1342dup)
c.9606dup (p.Lys3203Ter)
c.*1537dup (n.*1537dup)
c.9924dup (p.Lys3309Ter)
c.2391dup (p.Lys798Ter)
n.2102dup
c.9975dup (p.Lys3326Ter)
c.9983dup (n.9983dup)
c.9879dup (p.Lys3294Ter)
13g.32398487_32398571delCA609453952BRCA2c.*497_*581del (n.*497_*581del)
c.*1341_*1425del (n.*1341_*1425del)
c.9605_9689del (p.Phe3202CysfsTer30)
c.*1536_*1620del (n.*1536_*1620del)
c.9923_10007del (p.Phe3308CysfsTer30)
c.2390_2474del (p.Phe797CysfsTer30)
n.2101_2185del
c.9974_10058del (p.Phe3325CysfsTer30)
c.9982_10066del (n.9982_10066del)
c.9878_9962del (p.Phe3293CysfsTer30)
ClinVar gnomAD v2 gnomAD v3 gnomAD v4
13g.32398487T>ACA387767480BRCA2c.*497T>A (n.*497T>A)
c.*1341T>A (n.*1341T>A)
c.9605T>A (p.Phe3202Tyr)
c.*1536T>A (n.*1536T>A)
c.9923T>A (p.Phe3308Tyr)
c.2390T>A (p.Phe797Tyr)
n.2101T>A
c.9974T>A (p.Phe3325Tyr)
c.9982T>A (n.9982T>A)
c.9878T>A (p.Phe3293Tyr)
13g.32398487T>CCA387767482BRCA2c.*497T>C (n.*497T>C)
c.*1341T>C (n.*1341T>C)
c.9605T>C (p.Phe3202Ser)
c.*1536T>C (n.*1536T>C)
c.9923T>C (p.Phe3308Ser)
c.2390T>C (p.Phe797Ser)
n.2101T>C
c.9974T>C (p.Phe3325Ser)
c.9982T>C (n.9982T>C)
c.9878T>C (p.Phe3293Ser)
13g.32398487T>GCA387767485BRCA2c.*497T>G (n.*497T>G)
c.*1341T>G (n.*1341T>G)
c.9605T>G (p.Phe3202Cys)
c.*1536T>G (n.*1536T>G)
c.9923T>G (p.Phe3308Cys)
c.2390T>G (p.Phe797Cys)
n.2101T>G
c.9974T>G (p.Phe3325Cys)
c.9982T>G (n.9982T>G)
c.9878T>G (p.Phe3293Cys)
13g.32398488T>ACA387767487BRCA2c.*498T>A (n.*498T>A)
c.*1342T>A (n.*1342T>A)
c.9606T>A (p.Phe3202Leu)
c.*1537T>A (n.*1537T>A)
c.9924T>A (p.Phe3308Leu)
c.2391T>A (p.Phe797Leu)
n.2102T>A
c.9975T>A (p.Phe3325Leu)
c.9983T>A (n.9983T>A)
c.9879T>A (p.Phe3293Leu)
13g.32398488T>CCA483440059BRCA2c.*498T>C (n.*498T>C)
c.*1342T>C (n.*1342T>C)
c.9606T>C (p.Phe3202=)
c.*1537T>C (n.*1537T>C)
c.9924T>C (p.Phe3308=)
c.2391T>C (p.Phe797=)
n.2102T>C
c.9975T>C (p.Phe3325=)
c.9983T>C (n.9983T>C)
c.9879T>C (p.Phe3293=)
13g.32398488T>GCA387767501BRCA2c.*498T>G (n.*498T>G)
c.*1342T>G (n.*1342T>G)
c.9606T>G (p.Phe3202Leu)
c.*1537T>G (n.*1537T>G)
c.9924T>G (p.Phe3308Leu)
c.2391T>G (p.Phe797Leu)
n.2102T>G
c.9975T>G (p.Phe3325Leu)
c.9983T>G (n.9983T>G)
c.9879T>G (p.Phe3293Leu)
ClinVar
13g.32398488T=CA2082836292BRCA2c.*498T= (n.*498T=)
c.*1342T= (n.*1342T=)
c.9606T= (p.Phe3202=)
c.*1537T= (n.*1537T=)
c.9924T= (p.Phe3308=)
c.2391T= (p.Phe797=)
n.2102T=
c.9975T= (p.Phe3325=)
c.9983T= (n.9983T=)
c.9879T= (p.Phe3293=)
13g.32398489A=CA2082836301BRCA2c.*499A= (n.*499A=)
c.*1343A= (n.*1343A=)
c.9607A= (p.Lys3203=)
c.*1538A= (n.*1538A=)
c.9925A= (p.Lys3309=)
c.2392A= (p.Lys798=)
n.2103A=
c.9976A= (p.Lys3326=)
c.9984A= (n.9984A=)
c.9880A= (p.Lys3294=)
13g.32398489A>CCA387767504BRCA2c.*499A>C (n.*499A>C)
c.*1343A>C (n.*1343A>C)
c.9607A>C (p.Lys3203Gln)
c.*1538A>C (n.*1538A>C)
c.9925A>C (p.Lys3309Gln)
c.2392A>C (p.Lys798Gln)
n.2103A>C
c.9976A>C (p.Lys3326Gln)
c.9984A>C (n.9984A>C)
c.9880A>C (p.Lys3294Gln)
13g.32398489A>GCA387767507BRCA2c.*499A>G (n.*499A>G)
c.*1343A>G (n.*1343A>G)
c.9607A>G (p.Lys3203Glu)
c.*1538A>G (n.*1538A>G)
c.9925A>G (p.Lys3309Glu)
c.2392A>G (p.Lys798Glu)
n.2103A>G
c.9976A>G (p.Lys3326Glu)
c.9984A>G (n.9984A>G)
c.9880A>G (p.Lys3294Glu)
13g.32398489A>TCA026350BRCA2c.*499A>T (n.*499A>T)
c.*1343A>T (n.*1343A>T)
c.9607A>T (p.Lys3203Ter)
c.*1538A>T (n.*1538A>T)
c.9925A>T (p.Lys3309Ter)
c.2392A>T (p.Lys798Ter)
n.2103A>T
c.9976A>T (p.Lys3326Ter)
c.9984A>T (n.9984A>T)
c.9880A>T (p.Lys3294Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398494dupCA609453953BRCA2c.*504dup (n.*504dup)
c.*1348dup (n.*1348dup)
c.9612dup (p.Phe3205IlefsTer3)
c.*1543dup (n.*1543dup)
c.9930dup (p.Phe3311IlefsTer3)
c.2397dup (p.Phe800IlefsTer3)
n.2108dup
c.9981dup (p.Phe3328IlefsTer3)
c.9989dup (n.9989dup)
c.9885dup (p.Phe3296IlefsTer3)
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.32398494delCA2580087480BRCA2c.*504del (n.*504del)
c.*1348del (n.*1348del)
c.9612del (p.Lys3204AsnfsTer13)
c.*1543del (n.*1543del)
c.9930del (p.Lys3310AsnfsTer13)
c.2397del (p.Lys799AsnfsTer13)
n.2108del
c.9981del (p.Lys3327AsnfsTer13)
c.9989del (n.9989del)
c.9885del (p.Lys3295AsnfsTer13)
ClinVar gnomAD v4
13g.32398490A=CA2082836307BRCA2c.*500A= (n.*500A=)
c.*1344A= (n.*1344A=)
c.9608A= (p.Lys3203=)
c.*1539A= (n.*1539A=)
c.9926A= (p.Lys3309=)
c.2393A= (p.Lys798=)
n.2104A=
c.9977A= (p.Lys3326=)
c.9985A= (n.9985A=)
c.9881A= (p.Lys3294=)
13g.32398490A>CCA387767514BRCA2c.*500A>C (n.*500A>C)
c.*1344A>C (n.*1344A>C)
c.9608A>C (p.Lys3203Thr)
c.*1539A>C (n.*1539A>C)
c.9926A>C (p.Lys3309Thr)
c.2393A>C (p.Lys798Thr)
n.2104A>C
c.9977A>C (p.Lys3326Thr)
c.9985A>C (n.9985A>C)
c.9881A>C (p.Lys3294Thr)
ClinVar dbSNP
13g.32398490A>GCA387767519BRCA2c.*500A>G (n.*500A>G)
c.*1344A>G (n.*1344A>G)
c.9608A>G (p.Lys3203Arg)
c.*1539A>G (n.*1539A>G)
c.9926A>G (p.Lys3309Arg)
c.2393A>G (p.Lys798Arg)
n.2104A>G
c.9977A>G (p.Lys3326Arg)
c.9985A>G (n.9985A>G)
c.9881A>G (p.Lys3294Arg)
13g.32398490A>TCA387767523BRCA2c.*500A>T (n.*500A>T)
c.*1344A>T (n.*1344A>T)
c.9608A>T (p.Lys3203Ile)
c.*1539A>T (n.*1539A>T)
c.9926A>T (p.Lys3309Ile)
c.2393A>T (p.Lys798Ile)
n.2104A>T
c.9977A>T (p.Lys3326Ile)
c.9985A>T (n.9985A>T)
c.9881A>T (p.Lys3294Ile)
dbSNP gnomAD v2 gnomAD v4
13g.32398491A>CCA387767528BRCA2c.*501A>C (n.*501A>C)
c.*1345A>C (n.*1345A>C)
c.9609A>C (p.Lys3203Asn)
c.*1540A>C (n.*1540A>C)
c.9927A>C (p.Lys3309Asn)
c.2394A>C (p.Lys798Asn)
n.2105A>C
c.9978A>C (p.Lys3326Asn)
c.9986A>C (n.9986A>C)
c.9882A>C (p.Lys3294Asn)
13g.32398491A>GCA483440062BRCA2c.*501A>G (n.*501A>G)
c.*1345A>G (n.*1345A>G)
c.9609A>G (p.Lys3203=)
c.*1540A>G (n.*1540A>G)
c.9927A>G (p.Lys3309=)
c.2394A>G (p.Lys798=)
n.2105A>G
c.9978A>G (p.Lys3326=)
c.9986A>G (n.9986A>G)
c.9882A>G (p.Lys3294=)
ClinVar dbSNP
13g.32398491A>TCA387767531BRCA2c.*501A>T (n.*501A>T)
c.*1345A>T (n.*1345A>T)
c.9609A>T (p.Lys3203Asn)
c.*1540A>T (n.*1540A>T)
c.9927A>T (p.Lys3309Asn)
c.2394A>T (p.Lys798Asn)
n.2105A>T
c.9978A>T (p.Lys3326Asn)
c.9986A>T (n.9986A>T)
c.9882A>T (p.Lys3294Asn)
13g.32398492A>CCA387767533BRCA2c.*502A>C (n.*502A>C)
c.*1346A>C (n.*1346A>C)
c.9610A>C (p.Lys3204Gln)
c.*1541A>C (n.*1541A>C)
c.9928A>C (p.Lys3310Gln)
c.2395A>C (p.Lys799Gln)
n.2106A>C
c.9979A>C (p.Lys3327Gln)
c.9987A>C (n.9987A>C)
c.9883A>C (p.Lys3295Gln)
13g.32398492A>GCA387767534BRCA2c.*502A>G (n.*502A>G)
c.*1346A>G (n.*1346A>G)
c.9610A>G (p.Lys3204Glu)
c.*1541A>G (n.*1541A>G)
c.9928A>G (p.Lys3310Glu)
c.2395A>G (p.Lys799Glu)
n.2106A>G
c.9979A>G (p.Lys3327Glu)
c.9987A>G (n.9987A>G)
c.9883A>G (p.Lys3295Glu)
dbSNP
13g.32398492A>TCA387767535BRCA2c.*502A>T (n.*502A>T)
c.*1346A>T (n.*1346A>T)
c.9610A>T (p.Lys3204Ter)
c.*1541A>T (n.*1541A>T)
c.9928A>T (p.Lys3310Ter)
c.2395A>T (p.Lys799Ter)
n.2106A>T
c.9979A>T (p.Lys3327Ter)
c.9987A>T (n.9987A>T)
c.9883A>T (p.Lys3295Ter)
dbSNP
13g.32398493A>CCA387767541BRCA2c.*503A>C (n.*503A>C)
c.*1347A>C (n.*1347A>C)
c.9611A>C (p.Lys3204Thr)
c.*1542A>C (n.*1542A>C)
c.9929A>C (p.Lys3310Thr)
c.2396A>C (p.Lys799Thr)
n.2107A>C
c.9980A>C (p.Lys3327Thr)
c.9988A>C (n.9988A>C)
c.9884A>C (p.Lys3295Thr)
gnomAD v4
13g.32398493A>GCA387767538BRCA2c.*503A>G (n.*503A>G)
c.*1347A>G (n.*1347A>G)
c.9611A>G (p.Lys3204Arg)
c.*1542A>G (n.*1542A>G)
c.9929A>G (p.Lys3310Arg)
c.2396A>G (p.Lys799Arg)
n.2107A>G
c.9980A>G (p.Lys3327Arg)
c.9988A>G (n.9988A>G)
c.9884A>G (p.Lys3295Arg)
13g.32398493A>TCA387767536BRCA2c.*503A>T (n.*503A>T)
c.*1347A>T (n.*1347A>T)
c.9611A>T (p.Lys3204Ile)
c.*1542A>T (n.*1542A>T)
c.9929A>T (p.Lys3310Ile)
c.2396A>T (p.Lys799Ile)
n.2107A>T
c.9980A>T (p.Lys3327Ile)
c.9988A>T (n.9988A>T)
c.9884A>T (p.Lys3295Ile)
dbSNP
13g.32398494A=CA2082836316BRCA2c.*504A= (n.*504A=)
c.*1348A= (n.*1348A=)
c.9612A= (p.Lys3204=)
c.*1543A= (n.*1543A=)
c.9930A= (p.Lys3310=)
c.2397A= (p.Lys799=)
n.2108A=
c.9981A= (p.Lys3327=)
c.9989A= (n.9989A=)
c.9885A= (p.Lys3295=)
13g.32398494A>CCA387767542BRCA2c.*504A>C (n.*504A>C)
c.*1348A>C (n.*1348A>C)
c.9612A>C (p.Lys3204Asn)
c.*1543A>C (n.*1543A>C)
c.9930A>C (p.Lys3310Asn)
c.2397A>C (p.Lys799Asn)
n.2108A>C
c.9981A>C (p.Lys3327Asn)
c.9989A>C (n.9989A>C)
c.9885A>C (p.Lys3295Asn)
13g.32398494A>GCA483440067BRCA2c.*504A>G (n.*504A>G)
c.*1348A>G (n.*1348A>G)
c.9612A>G (p.Lys3204=)
c.*1543A>G (n.*1543A>G)
c.9930A>G (p.Lys3310=)
c.2397A>G (p.Lys799=)
n.2108A>G
c.9981A>G (p.Lys3327=)
c.9989A>G (n.9989A>G)
c.9885A>G (p.Lys3295=)
dbSNP
13g.32398494A>TCA026351BRCA2c.*504A>T (n.*504A>T)
c.*1348A>T (n.*1348A>T)
c.9612A>T (p.Lys3204Asn)
c.*1543A>T (n.*1543A>T)
c.9930A>T (p.Lys3310Asn)
c.2397A>T (p.Lys799Asn)
n.2108A>T
c.9981A>T (p.Lys3327Asn)
c.9989A>T (n.9989A>T)
c.9885A>T (p.Lys3295Asn)
ClinVar dbSNP
13g.32398495T>ACA387767543BRCA2c.*505T>A (n.*505T>A)
c.*1349T>A (n.*1349T>A)
c.9613T>A (p.Phe3205Ile)
c.*1544T>A (n.*1544T>A)
c.9931T>A (p.Phe3311Ile)
c.2398T>A (p.Phe800Ile)
n.2109T>A
c.9982T>A (p.Phe3328Ile)
c.9990T>A (n.9990T>A)
c.9886T>A (p.Phe3296Ile)
dbSNP
13g.32398495T>CCA387767546BRCA2c.*505T>C (n.*505T>C)
c.*1349T>C (n.*1349T>C)
c.9613T>C (p.Phe3205Leu)
c.*1544T>C (n.*1544T>C)
c.9931T>C (p.Phe3311Leu)
c.2398T>C (p.Phe800Leu)
n.2109T>C
c.9982T>C (p.Phe3328Leu)
c.9990T>C (n.9990T>C)
c.9886T>C (p.Phe3296Leu)
dbSNP gnomAD v4
13g.32398495T>GCA387767545BRCA2c.*505T>G (n.*505T>G)
c.*1349T>G (n.*1349T>G)
c.9613T>G (p.Phe3205Val)
c.*1544T>G (n.*1544T>G)
c.9931T>G (p.Phe3311Val)
c.2398T>G (p.Phe800Val)
n.2109T>G
c.9982T>G (p.Phe3328Val)
c.9990T>G (n.9990T>G)
c.9886T>G (p.Phe3296Val)
13g.32398496T>ACA387767552BRCA2c.*506T>A (n.*506T>A)
c.*1350T>A (n.*1350T>A)
c.9614T>A (p.Phe3205Tyr)
c.*1545T>A (n.*1545T>A)
c.9932T>A (p.Phe3311Tyr)
c.2399T>A (p.Phe800Tyr)
n.2110T>A
c.9983T>A (p.Phe3328Tyr)
c.9991T>A (n.9991T>A)
c.9887T>A (p.Phe3296Tyr)
dbSNP
13g.32398496T>CCA387767564BRCA2c.*506T>C (n.*506T>C)
c.*1350T>C (n.*1350T>C)
c.9614T>C (p.Phe3205Ser)
c.*1545T>C (n.*1545T>C)
c.9932T>C (p.Phe3311Ser)
c.2399T>C (p.Phe800Ser)
n.2110T>C
c.9983T>C (p.Phe3328Ser)
c.9991T>C (n.9991T>C)
c.9887T>C (p.Phe3296Ser)
13g.32398496T>GCA6941460BRCA2c.*506T>G (n.*506T>G)
c.*1350T>G (n.*1350T>G)
c.9614T>G (p.Phe3205Cys)
c.*1545T>G (n.*1545T>G)
c.9932T>G (p.Phe3311Cys)
c.2399T>G (p.Phe800Cys)
n.2110T>G
c.9983T>G (p.Phe3328Cys)
c.9991T>G (n.9991T>G)
c.9887T>G (p.Phe3296Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398496T=CA2082836325BRCA2c.*506T= (n.*506T=)
c.*1350T= (n.*1350T=)
c.9614T= (p.Phe3205=)
c.*1545T= (n.*1545T=)
c.9932T= (p.Phe3311=)
c.2399T= (p.Phe800=)
n.2110T=
c.9983T= (p.Phe3328=)
c.9991T= (n.9991T=)
c.9887T= (p.Phe3296=)
13g.32398497C>ACA387767566BRCA2c.*507C>A (n.*507C>A)
c.*1351C>A (n.*1351C>A)
c.9615C>A (p.Phe3205Leu)
c.*1546C>A (n.*1546C>A)
c.9933C>A (p.Phe3311Leu)
c.2400C>A (p.Phe800Leu)
n.2111C>A
c.9984C>A (p.Phe3328Leu)
c.9992C>A (n.9992C>A)
c.9888C>A (p.Phe3296Leu)
dbSNP
13g.32398497C>GCA387767569BRCA2c.*507C>G (n.*507C>G)
c.*1351C>G (n.*1351C>G)
c.9615C>G (p.Phe3205Leu)
c.*1546C>G (n.*1546C>G)
c.9933C>G (p.Phe3311Leu)
c.2400C>G (p.Phe800Leu)
n.2111C>G
c.9984C>G (p.Phe3328Leu)
c.9992C>G (n.9992C>G)
c.9888C>G (p.Phe3296Leu)
dbSNP gnomAD v4
13g.32398497C>TCA483440074BRCA2c.*507C>T (n.*507C>T)
c.*1351C>T (n.*1351C>T)
c.9615C>T (p.Phe3205=)
c.*1546C>T (n.*1546C>T)
c.9933C>T (p.Phe3311=)
c.2400C>T (p.Phe800=)
n.2111C>T
c.9984C>T (p.Phe3328=)
c.9992C>T (n.9992C>T)
c.9888C>T (p.Phe3296=)
dbSNP
13g.32398497_32398498delinsCACA2082836329BRCA2c.*507_*508delinsCA (n.*507_*508delinsCA)
c.*1351_*1352delinsCA (n.*1351_*1352delinsCA)
c.9615_9616delinsCA (p.Phe3205=)
c.*1546_*1547delinsCA (n.*1546_*1547delinsCA)
c.9933_9934delinsCA (p.Phe3311=)
c.2400_2401delinsCA (p.Phe800=)
n.2111_2112delinsCA
c.9984_9985delinsCA (p.Phe3328=)
c.9992_9993delinsCA (n.9992_9993delinsCA)
c.9888_9889delinsCA (p.Phe3296=)
13g.32398498A=CA2082836345BRCA2c.*508A= (n.*508A=)
c.*1352A= (n.*1352A=)
c.9616A= (p.Asn3206=)
c.*1547A= (n.*1547A=)
c.9934A= (p.Asn3312=)
c.2401A= (p.Asn801=)
n.2112A=
c.9985A= (p.Asn3329=)
c.9993A= (n.9993A=)
c.9889A= (p.Asn3297=)
13g.32398498A>CCA387767571BRCA2c.*508A>C (n.*508A>C)
c.*1352A>C (n.*1352A>C)
c.9616A>C (p.Asn3206His)
c.*1547A>C (n.*1547A>C)
c.9934A>C (p.Asn3312His)
c.2401A>C (p.Asn801His)
n.2112A>C
c.9985A>C (p.Asn3329His)
c.9993A>C (n.9993A>C)
c.9889A>C (p.Asn3297His)
ClinVar dbSNP
13g.32398498A>GCA387767572BRCA2c.*508A>G (n.*508A>G)
c.*1352A>G (n.*1352A>G)
c.9616A>G (p.Asn3206Asp)
c.*1547A>G (n.*1547A>G)
c.9934A>G (p.Asn3312Asp)
c.2401A>G (p.Asn801Asp)
n.2112A>G
c.9985A>G (p.Asn3329Asp)
c.9993A>G (n.9993A>G)
c.9889A>G (p.Asn3297Asp)
13g.32398498A>TCA387767573BRCA2c.*508A>T (n.*508A>T)
c.*1352A>T (n.*1352A>T)
c.9616A>T (p.Asn3206Tyr)
c.*1547A>T (n.*1547A>T)
c.9934A>T (p.Asn3312Tyr)
c.2401A>T (p.Asn801Tyr)
n.2112A>T
c.9985A>T (p.Asn3329Tyr)
c.9993A>T (n.9993A>T)
c.9889A>T (p.Asn3297Tyr)
dbSNP
13g.32398499delCA16619801BRCA2c.*509del (n.*509del)
c.*1353del (n.*1353del)
c.9617del (p.Asn3206MetfsTer11)
c.*1548del (n.*1548del)
c.9935del (p.Asn3312MetfsTer11)
c.2402del (p.Asn801MetfsTer11)
n.2113del
c.9986del (p.Asn3329MetfsTer11)
c.9994del (n.9994del)
c.9890del (p.Asn3297MetfsTer11)
ClinVar dbSNP
13g.32398498_32398499insGGCCGGGCGCGGTGGCTCACGCCTGTCA2622602761BRCA2c.*508_*509insGGCCGGGCGCGGTGGCTCACGCCTGT (n.*508_*509insGGCCGGGCGCGGTGGCTCACGCCTGT)
c.*1352_*1353insGGCCGGGCGCGGTGGCTCACGCCTGT (n.*1352_*1353insGGCCGGGCGCGGTGGCTCACGCCTGT)
c.9616_9617insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3206ArgfsTer20)
c.*1547_*1548insGGCCGGGCGCGGTGGCTCACGCCTGT (n.*1547_*1548insGGCCGGGCGCGGTGGCTCACGCCTGT)
c.9934_9935insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3312ArgfsTer20)
c.2401_2402insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn801ArgfsTer20)
n.2112_2113insGGCCGGGCGCGGTGGCTCACGCCTGT
c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3329ArgfsTer20)
c.9993_9994insGGCCGGGCGCGGTGGCTCACGCCTGT (n.9993_9994insGGCCGGGCGCGGTGGCTCACGCCTGT)
c.9889_9890insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Asn3297ArgfsTer20)
gnomAD v4
13g.32398499A=CA2082836367BRCA2c.*509A= (n.*509A=)
c.*1353A= (n.*1353A=)
c.9617A= (p.Asn3206=)
c.*1548A= (n.*1548A=)
c.9935A= (p.Asn3312=)
c.2402A= (p.Asn801=)
n.2113A=
c.9986A= (p.Asn3329=)
c.9994A= (n.9994A=)
c.9890A= (p.Asn3297=)
13g.32398499A>CCA6941461BRCA2c.*509A>C (n.*509A>C)
c.*1353A>C (n.*1353A>C)
c.9617A>C (p.Asn3206Thr)
c.*1548A>C (n.*1548A>C)
c.9935A>C (p.Asn3312Thr)
c.2402A>C (p.Asn801Thr)
n.2113A>C
c.9986A>C (p.Asn3329Thr)
c.9994A>C (n.9994A>C)
c.9890A>C (p.Asn3297Thr)
dbSNP ExAC gnomAD v2
13g.32398499A>GCA026352BRCA2c.*509A>G (n.*509A>G)
c.*1353A>G (n.*1353A>G)
c.9617A>G (p.Asn3206Ser)
c.*1548A>G (n.*1548A>G)
c.9935A>G (p.Asn3312Ser)
c.2402A>G (p.Asn801Ser)
n.2113A>G
c.9986A>G (p.Asn3329Ser)
c.9994A>G (n.9994A>G)
c.9890A>G (p.Asn3297Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398499A>TCA387767584BRCA2c.*509A>T (n.*509A>T)
c.*1353A>T (n.*1353A>T)
c.9617A>T (p.Asn3206Ile)
c.*1548A>T (n.*1548A>T)
c.9935A>T (p.Asn3312Ile)
c.2402A>T (p.Asn801Ile)
n.2113A>T
c.9986A>T (p.Asn3329Ile)
c.9994A>T (n.9994A>T)
c.9890A>T (p.Asn3297Ile)
dbSNP COSMIC COSMIC
13g.32398500T>ACA387767586BRCA2c.*510T>A (n.*510T>A)
c.*1354T>A (n.*1354T>A)
c.9618T>A (p.Asn3206Lys)
c.*1549T>A (n.*1549T>A)
c.9936T>A (p.Asn3312Lys)
c.2403T>A (p.Asn801Lys)
n.2114T>A
c.9987T>A (p.Asn3329Lys)
c.9995T>A (n.9995T>A)
c.9891T>A (p.Asn3297Lys)
dbSNP
13g.32398500T>CCA483440080BRCA2c.*510T>C (n.*510T>C)
c.*1354T>C (n.*1354T>C)
c.9618T>C (p.Asn3206=)
c.*1549T>C (n.*1549T>C)
c.9936T>C (p.Asn3312=)
c.2403T>C (p.Asn801=)
n.2114T>C
c.9987T>C (p.Asn3329=)
c.9995T>C (n.9995T>C)
c.9891T>C (p.Asn3297=)
13g.32398500T>GCA387767588BRCA2c.*510T>G (n.*510T>G)
c.*1354T>G (n.*1354T>G)
c.9618T>G (p.Asn3206Lys)
c.*1549T>G (n.*1549T>G)
c.9936T>G (p.Asn3312Lys)
c.2403T>G (p.Asn801Lys)
n.2114T>G
c.9987T>G (p.Asn3329Lys)
c.9995T>G (n.9995T>G)
c.9891T>G (p.Asn3297Lys)
13g.32398501G>ACA387767590BRCA2c.*511G>A (n.*511G>A)
c.*1355G>A (n.*1355G>A)
c.9619G>A (p.Glu3207Lys)
c.*1550G>A (n.*1550G>A)
c.9937G>A (p.Glu3313Lys)
c.2404G>A (p.Glu802Lys)
n.2115G>A
c.9988G>A (p.Glu3330Lys)
c.9996G>A (n.9996G>A)
c.9892G>A (p.Glu3298Lys)
ClinVar dbSNP
13g.32398501G>CCA387767592BRCA2c.*511G>C (n.*511G>C)
c.*1355G>C (n.*1355G>C)
c.9619G>C (p.Glu3207Gln)
c.*1550G>C (n.*1550G>C)
c.9937G>C (p.Glu3313Gln)
c.2404G>C (p.Glu802Gln)
n.2115G>C
c.9988G>C (p.Glu3330Gln)
c.9996G>C (n.9996G>C)
c.9892G>C (p.Glu3298Gln)
dbSNP
13g.32398501G>TCA387767593BRCA2c.*511G>T (n.*511G>T)
c.*1355G>T (n.*1355G>T)
c.9619G>T (p.Glu3207Ter)
c.*1550G>T (n.*1550G>T)
c.9937G>T (p.Glu3313Ter)
c.2404G>T (p.Glu802Ter)
n.2115G>T
c.9988G>T (p.Glu3330Ter)
c.9996G>T (n.9996G>T)
c.9892G>T (p.Glu3298Ter)
dbSNP
13g.32398502A>CCA387767598BRCA2c.*512A>C (n.*512A>C)
c.*1356A>C (n.*1356A>C)
c.9620A>C (p.Glu3207Ala)
c.*1551A>C (n.*1551A>C)
c.9938A>C (p.Glu3313Ala)
c.2405A>C (p.Glu802Ala)
n.2116A>C
c.9989A>C (p.Glu3330Ala)
c.9997A>C (n.9997A>C)
c.9893A>C (p.Glu3298Ala)
13g.32398502A>GCA387767595BRCA2c.*512A>G (n.*512A>G)
c.*1356A>G (n.*1356A>G)
c.9620A>G (p.Glu3207Gly)
c.*1551A>G (n.*1551A>G)
c.9938A>G (p.Glu3313Gly)
c.2405A>G (p.Glu802Gly)
n.2116A>G
c.9989A>G (p.Glu3330Gly)
c.9997A>G (n.9997A>G)
c.9893A>G (p.Glu3298Gly)
13g.32398502A>TCA387767594BRCA2c.*512A>T (n.*512A>T)
c.*1356A>T (n.*1356A>T)
c.9620A>T (p.Glu3207Val)
c.*1551A>T (n.*1551A>T)
c.9938A>T (p.Glu3313Val)
c.2405A>T (p.Glu802Val)
n.2116A>T
c.9989A>T (p.Glu3330Val)
c.9997A>T (n.9997A>T)
c.9893A>T (p.Glu3298Val)
ClinVar dbSNP
13g.32398503A=CA2082836371BRCA2c.*513A= (n.*513A=)
c.*1357A= (n.*1357A=)
c.9621A= (p.Glu3207=)
c.*1552A= (n.*1552A=)
c.9939A= (p.Glu3313=)
c.2406A= (p.Glu802=)
n.2117A=
c.9990A= (p.Glu3330=)
c.9998A= (n.9998A=)
c.9894A= (p.Glu3298=)
13g.32398503A>CCA16606711BRCA2c.*513A>C (n.*513A>C)
c.*1357A>C (n.*1357A>C)
c.9621A>C (p.Glu3207Asp)
c.*1552A>C (n.*1552A>C)
c.9939A>C (p.Glu3313Asp)
c.2406A>C (p.Glu802Asp)
n.2117A>C
c.9990A>C (p.Glu3330Asp)
c.9998A>C (n.9998A>C)
c.9894A>C (p.Glu3298Asp)
ClinVar dbSNP gnomAD v4
13g.32398503A>GCA483440090BRCA2c.*513A>G (n.*513A>G)
c.*1357A>G (n.*1357A>G)
c.9621A>G (p.Glu3207=)
c.*1552A>G (n.*1552A>G)
c.9939A>G (p.Glu3313=)
c.2406A>G (p.Glu802=)
n.2117A>G
c.9990A>G (p.Glu3330=)
c.9998A>G (n.9998A>G)
c.9894A>G (p.Glu3298=)
dbSNP gnomAD v4
13g.32398503A>TCA387767607BRCA2c.*513A>T (n.*513A>T)
c.*1357A>T (n.*1357A>T)
c.9621A>T (p.Glu3207Asp)
c.*1552A>T (n.*1552A>T)
c.9939A>T (p.Glu3313Asp)
c.2406A>T (p.Glu802Asp)
n.2117A>T
c.9990A>T (p.Glu3330Asp)
c.9998A>T (n.9998A>T)
c.9894A>T (p.Glu3298Asp)
dbSNP
13g.32398503_32398505delCA2695217836BRCA2c.*513_*515del (n.*513_*515del)
c.*1357_*1359del (n.*1357_*1359del)
c.9621_9623del (p.Glu3207_Ile3208delinsAsp)
c.*1552_*1554del (n.*1552_*1554del)
c.9939_9941del (p.Glu3313_Ile3314delinsAsp)
c.2406_2408del (p.Glu802_Ile803delinsAsp)
n.2117_2119del
c.9990_9992del (p.Glu3330_Ile3331delinsAsp)
c.9998_10000del (n.9998_10000del)
c.9894_9896del (p.Glu3298_Ile3299delinsAsp)
13g.32398504A>CCA387767609BRCA2c.*514A>C (n.*514A>C)
c.*1358A>C (n.*1358A>C)
c.9622A>C (p.Ile3208Leu)
c.*1553A>C (n.*1553A>C)
c.9940A>C (p.Ile3314Leu)
c.2407A>C (p.Ile803Leu)
n.2118A>C
c.9991A>C (p.Ile3331Leu)
c.9999A>C (n.9999A>C)
c.9895A>C (p.Ile3299Leu)
13g.32398504A>GCA387767611BRCA2c.*514A>G (n.*514A>G)
c.*1358A>G (n.*1358A>G)
c.9622A>G (p.Ile3208Val)
c.*1553A>G (n.*1553A>G)
c.9940A>G (p.Ile3314Val)
c.2407A>G (p.Ile803Val)
n.2118A>G
c.9991A>G (p.Ile3331Val)
c.9999A>G (n.9999A>G)
c.9895A>G (p.Ile3299Val)
13g.32398504A>TCA387767614BRCA2c.*514A>T (n.*514A>T)
c.*1358A>T (n.*1358A>T)
c.9622A>T (p.Ile3208Phe)
c.*1553A>T (n.*1553A>T)
c.9940A>T (p.Ile3314Phe)
c.2407A>T (p.Ile803Phe)
n.2118A>T
c.9991A>T (p.Ile3331Phe)
c.9999A>T (n.9999A>T)
c.9895A>T (p.Ile3299Phe)
13g.32398505T>ACA387767615BRCA2c.*515T>A (n.*515T>A)
c.*1359T>A (n.*1359T>A)
c.9623T>A (p.Ile3208Asn)
c.*1554T>A (n.*1554T>A)
c.9941T>A (p.Ile3314Asn)
c.2408T>A (p.Ile803Asn)
n.2119T>A
c.9992T>A (p.Ile3331Asn)
c.10000T>A (n.10000T>A)
c.9896T>A (p.Ile3299Asn)
dbSNP
13g.32398505T>CCA387767616BRCA2c.*515T>C (n.*515T>C)
c.*1359T>C (n.*1359T>C)
c.9623T>C (p.Ile3208Thr)
c.*1554T>C (n.*1554T>C)
c.9941T>C (p.Ile3314Thr)
c.2408T>C (p.Ile803Thr)
n.2119T>C
c.9992T>C (p.Ile3331Thr)
c.10000T>C (n.10000T>C)
c.9896T>C (p.Ile3299Thr)
dbSNP COSMIC COSMIC
13g.32398505T>GCA387767617BRCA2c.*515T>G (n.*515T>G)
c.*1359T>G (n.*1359T>G)
c.9623T>G (p.Ile3208Ser)
c.*1554T>G (n.*1554T>G)
c.9941T>G (p.Ile3314Ser)
c.2408T>G (p.Ile803Ser)
n.2119T>G
c.9992T>G (p.Ile3331Ser)
c.10000T>G (n.10000T>G)
c.9896T>G (p.Ile3299Ser)
13g.32398506T>ACA16607503BRCA2c.*516T>A (n.*516T>A)
c.*1360T>A (n.*1360T>A)
c.9624T>A (p.Ile3208=)
c.*1555T>A (n.*1555T>A)
c.9942T>A (p.Ile3314=)
c.2409T>A (p.Ile803=)
n.2120T>A
c.9993T>A (p.Ile3331=)
c.10001T>A (n.10001T>A)
c.9897T>A (p.Ile3299=)
ClinVar dbSNP
13g.32398506T>CCA483440097BRCA2c.*516T>C (n.*516T>C)
c.*1360T>C (n.*1360T>C)
c.9624T>C (p.Ile3208=)
c.*1555T>C (n.*1555T>C)
c.9942T>C (p.Ile3314=)
c.2409T>C (p.Ile803=)
n.2120T>C
c.9993T>C (p.Ile3331=)
c.10001T>C (n.10001T>C)
c.9897T>C (p.Ile3299=)
13g.32398506T>GCA387767619BRCA2c.*516T>G (n.*516T>G)
c.*1360T>G (n.*1360T>G)
c.9624T>G (p.Ile3208Met)
c.*1555T>G (n.*1555T>G)
c.9942T>G (p.Ile3314Met)
c.2409T>G (p.Ile803Met)
n.2120T>G
c.9993T>G (p.Ile3331Met)
c.10001T>G (n.10001T>G)
c.9897T>G (p.Ile3299Met)
13g.32398506T=CA2082836382BRCA2c.*516T= (n.*516T=)
c.*1360T= (n.*1360T=)
c.9624T= (p.Ile3208=)
c.*1555T= (n.*1555T=)
c.9942T= (p.Ile3314=)
c.2409T= (p.Ile803=)
n.2120T=
c.9993T= (p.Ile3331=)
c.10001T= (n.10001T=)
c.9897T= (p.Ile3299=)
13g.32398506_32398508delinsTTCCA2082836383BRCA2c.*516_*518delinsTTC (n.*516_*518delinsTTC)
c.*1360_*1362delinsTTC (n.*1360_*1362delinsTTC)
c.9624_9626delinsTTC (p.Ile3208=)
c.*1555_*1557delinsTTC (n.*1555_*1557delinsTTC)
c.9942_9944delinsTTC (p.Ile3314=)
c.2409_2411delinsTTC (p.Ile803=)
n.2120_2122delinsTTC
c.9993_9995delinsTTC (p.Ile3331=)
c.10001_10003delinsTTC (n.10001_10003delinsTTC)
c.9897_9899delinsTTC (p.Ile3299=)
13g.32398507T>ACA387767623BRCA2c.*517T>A (n.*517T>A)
c.*1361T>A (n.*1361T>A)
c.9625T>A (p.Ser3209Thr)
c.*1556T>A (n.*1556T>A)
c.9943T>A (p.Ser3315Thr)
c.2410T>A (p.Ser804Thr)
n.2121T>A
c.9994T>A (p.Ser3332Thr)
c.10002T>A (n.10002T>A)
c.9898T>A (p.Ser3300Thr)
dbSNP
13g.32398507T>CCA387767625BRCA2c.*517T>C (n.*517T>C)
c.*1361T>C (n.*1361T>C)
c.9625T>C (p.Ser3209Pro)
c.*1556T>C (n.*1556T>C)
c.9943T>C (p.Ser3315Pro)
c.2410T>C (p.Ser804Pro)
n.2121T>C
c.9994T>C (p.Ser3332Pro)
c.10002T>C (n.10002T>C)
c.9898T>C (p.Ser3300Pro)
13g.32398507T>GCA387767628BRCA2c.*517T>G (n.*517T>G)
c.*1361T>G (n.*1361T>G)
c.9625T>G (p.Ser3209Ala)
c.*1556T>G (n.*1556T>G)
c.9943T>G (p.Ser3315Ala)
c.2410T>G (p.Ser804Ala)
n.2121T>G
c.9994T>G (p.Ser3332Ala)
c.10002T>G (n.10002T>G)
c.9898T>G (p.Ser3300Ala)
ClinVar
13g.32398510_32398511delCA026354BRCA2c.*520_*521del (n.*520_*521del)
c.*1364_*1365del (n.*1364_*1365del)
c.9628_9629del (p.Leu3210PhefsTer4)
c.*1559_*1560del (n.*1559_*1560del)
c.9946_9947del (p.Leu3316PhefsTer4)
c.2413_2414del (p.Leu805PhefsTer4)
n.2124_2125del
c.9997_9998del (p.Leu3333PhefsTer4)
c.10005_10006del (n.10005_10006del)
c.9901_9902del (p.Leu3301PhefsTer4)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.32398508C>ACA10579852BRCA2c.*518C>A (n.*518C>A)
c.*1362C>A (n.*1362C>A)
c.9626C>A (p.Ser3209Tyr)
c.*1557C>A (n.*1557C>A)
c.9944C>A (p.Ser3315Tyr)
c.2411C>A (p.Ser804Tyr)
n.2122C>A
c.9995C>A (p.Ser3332Tyr)
c.10003C>A (n.10003C>A)
c.9899C>A (p.Ser3300Tyr)
ClinVar dbSNP COSMIC COSMIC
13g.32398508C=CA2082836404BRCA2c.*518C= (n.*518C=)
c.*1362C= (n.*1362C=)
c.9626C= (p.Ser3209=)
c.*1557C= (n.*1557C=)
c.9944C= (p.Ser3315=)
c.2411C= (p.Ser804=)
n.2122C=
c.9995C= (p.Ser3332=)
c.10003C= (n.10003C=)
c.9899C= (p.Ser3300=)
13g.32398508C>GCA16607505BRCA2c.*518C>G (n.*518C>G)
c.*1362C>G (n.*1362C>G)
c.9626C>G (p.Ser3209Cys)
c.*1557C>G (n.*1557C>G)
c.9944C>G (p.Ser3315Cys)
c.2411C>G (p.Ser804Cys)
n.2122C>G
c.9995C>G (p.Ser3332Cys)
c.10003C>G (n.10003C>G)
c.9899C>G (p.Ser3300Cys)
ClinVar dbSNP gnomAD v4
13g.32398508C>TCA387767642BRCA2c.*518C>T (n.*518C>T)
c.*1362C>T (n.*1362C>T)
c.9626C>T (p.Ser3209Phe)
c.*1557C>T (n.*1557C>T)
c.9944C>T (p.Ser3315Phe)
c.2411C>T (p.Ser804Phe)
n.2122C>T
c.9995C>T (p.Ser3332Phe)
c.10003C>T (n.10003C>T)
c.9899C>T (p.Ser3300Phe)
dbSNP
13g.32398508_32398517delinsCTCTTTTGGACA2082836403BRCA2c.*518_*527delinsCTCTTTTGGA (n.*518_*527delinsCTCTTTTGGA)
c.*1362_*1371delinsCTCTTTTGGA (n.*1362_*1371delinsCTCTTTTGGA)
c.9626_9635delinsCTCTTTTGGA (p.Ser3209=)
c.*1557_*1566delinsCTCTTTTGGA (n.*1557_*1566delinsCTCTTTTGGA)
c.9944_9953delinsCTCTTTTGGA (p.Ser3315=)
c.2411_2420delinsCTCTTTTGGA (p.Ser804=)
n.2122_2131delinsCTCTTTTGGA
c.9995_10004delinsCTCTTTTGGA (p.Ser3332=)
c.10003_10012delinsCTCTTTTGGA (n.10003_10012delinsCTCTTTTGGA)
c.9899_9908delinsCTCTTTTGGA (p.Ser3300=)
13g.32398509T>ACA483440107BRCA2c.*519T>A (n.*519T>A)
c.*1363T>A (n.*1363T>A)
c.9627T>A (p.Ser3209=)
c.*1558T>A (n.*1558T>A)
c.9945T>A (p.Ser3315=)
c.2412T>A (p.Ser804=)
n.2123T>A
c.9996T>A (p.Ser3332=)
c.10004T>A (n.10004T>A)
c.9900T>A (p.Ser3300=)
dbSNP
13g.32398509T>CCA483440113BRCA2c.*519T>C (n.*519T>C)
c.*1363T>C (n.*1363T>C)
c.9627T>C (p.Ser3209=)
c.*1558T>C (n.*1558T>C)
c.9945T>C (p.Ser3315=)
c.2412T>C (p.Ser804=)
n.2123T>C
c.9996T>C (p.Ser3332=)
c.10004T>C (n.10004T>C)
c.9900T>C (p.Ser3300=)
ClinVar dbSNP
13g.32398509T>GCA483440114BRCA2c.*519T>G (n.*519T>G)
c.*1363T>G (n.*1363T>G)
c.9627T>G (p.Ser3209=)
c.*1558T>G (n.*1558T>G)
c.9945T>G (p.Ser3315=)
c.2412T>G (p.Ser804=)
n.2123T>G
c.9996T>G (p.Ser3332=)
c.10004T>G (n.10004T>G)
c.9900T>G (p.Ser3300=)
13g.32398509_32398517delinsCCTTTGGGCA913190452BRCA2c.*519_*527delinsCCTTTGGG (n.*519_*527delinsCCTTTGGG)
c.*1363_*1371delinsCCTTTGGG (n.*1363_*1371delinsCCTTTGGG)
c.9627_9635delinsCCTTTGGG (p.Leu3211TrpfsTer6)
c.*1558_*1566delinsCCTTTGGG (n.*1558_*1566delinsCCTTTGGG)
c.9945_9953delinsCCTTTGGG (p.Leu3317TrpfsTer6)
c.2412_2420delinsCCTTTGGG (p.Leu806TrpfsTer6)
n.2123_2131delinsCCTTTGGG
c.9996_10004delinsCCTTTGGG (p.Leu3334TrpfsTer6)
c.10004_10012delinsCCTTTGGG (n.10004_10012delinsCCTTTGGG)
c.9900_9908delinsCCTTTGGG (p.Leu3302TrpfsTer6)
ClinVar dbSNP
13g.32398510C>ACA387767650BRCA2c.*520C>A (n.*520C>A)
c.*1364C>A (n.*1364C>A)
c.9628C>A (p.Leu3210Ile)
c.*1559C>A (n.*1559C>A)
c.9946C>A (p.Leu3316Ile)
c.2413C>A (p.Leu805Ile)
n.2124C>A
c.9997C>A (p.Leu3333Ile)
c.10005C>A (n.10005C>A)
c.9901C>A (p.Leu3301Ile)
ClinVar
13g.32398510C=CA2082836415BRCA2c.*520C= (n.*520C=)
c.*1364C= (n.*1364C=)
c.9628C= (p.Leu3210=)
c.*1559C= (n.*1559C=)
c.9946C= (p.Leu3316=)
c.2413C= (p.Leu805=)
n.2124C=
c.9997C= (p.Leu3333=)
c.10005C= (n.10005C=)
c.9901C= (p.Leu3301=)
13g.32398510C>GCA026355BRCA2c.*520C>G (n.*520C>G)
c.*1364C>G (n.*1364C>G)
c.9628C>G (p.Leu3210Val)
c.*1559C>G (n.*1559C>G)
c.9946C>G (p.Leu3316Val)
c.2413C>G (p.Leu805Val)
n.2124C>G
c.9997C>G (p.Leu3333Val)
c.10005C>G (n.10005C>G)
c.9901C>G (p.Leu3301Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.32398510C>TCA387767651BRCA2c.*520C>T (n.*520C>T)
c.*1364C>T (n.*1364C>T)
c.9628C>T (p.Leu3210Phe)
c.*1559C>T (n.*1559C>T)
c.9946C>T (p.Leu3316Phe)
c.2413C>T (p.Leu805Phe)
n.2124C>T
c.9997C>T (p.Leu3333Phe)
c.10005C>T (n.10005C>T)
c.9901C>T (p.Leu3301Phe)
ClinVar dbSNP
13g.32398511T>ACA387767653BRCA2c.*521T>A (n.*521T>A)
c.*1365T>A (n.*1365T>A)
c.9629T>A (p.Leu3210His)
c.*1560T>A (n.*1560T>A)
c.9947T>A (p.Leu3316His)
c.2414T>A (p.Leu805His)
n.2125T>A
c.9998T>A (p.Leu3333His)
c.10006T>A (n.10006T>A)
c.9902T>A (p.Leu3301His)
ClinVar dbSNP
13g.32398511T>CCA387767656BRCA2c.*521T>C (n.*521T>C)
c.*1365T>C (n.*1365T>C)
c.9629T>C (p.Leu3210Pro)
c.*1560T>C (n.*1560T>C)
c.9947T>C (p.Leu3316Pro)
c.2414T>C (p.Leu805Pro)
n.2125T>C
c.9998T>C (p.Leu3333Pro)
c.10006T>C (n.10006T>C)
c.9902T>C (p.Leu3301Pro)
ClinVar dbSNP COSMIC COSMIC
13g.32398511T>GCA387767658BRCA2c.*521T>G (n.*521T>G)
c.*1365T>G (n.*1365T>G)
c.9629T>G (p.Leu3210Arg)
c.*1560T>G (n.*1560T>G)
c.9947T>G (p.Leu3316Arg)
c.2414T>G (p.Leu805Arg)
n.2125T>G
c.9998T>G (p.Leu3333Arg)
c.10006T>G (n.10006T>G)
c.9902T>G (p.Leu3301Arg)
13g.32398511T=CA2082836427BRCA2c.*521T= (n.*521T=)
c.*1365T= (n.*1365T=)
c.9629T= (p.Leu3210=)
c.*1560T= (n.*1560T=)
c.9947T= (p.Leu3316=)
c.2414T= (p.Leu805=)
n.2125T=
c.9998T= (p.Leu3333=)
c.10006T= (n.10006T=)
c.9902T= (p.Leu3301=)
13g.32398512T>ACA483440122BRCA2c.*522T>A (n.*522T>A)
c.*1366T>A (n.*1366T>A)
c.9630T>A (p.Leu3210=)
c.*1561T>A (n.*1561T>A)
c.9948T>A (p.Leu3316=)
c.2415T>A (p.Leu805=)
n.2126T>A
c.9999T>A (p.Leu3333=)
c.10007T>A (n.10007T>A)
c.9903T>A (p.Leu3301=)
dbSNP
13g.32398512T>CCA483440124BRCA2c.*522T>C (n.*522T>C)
c.*1366T>C (n.*1366T>C)
c.9630T>C (p.Leu3210=)
c.*1561T>C (n.*1561T>C)
c.9948T>C (p.Leu3316=)
c.2415T>C (p.Leu805=)
n.2126T>C
c.9999T>C (p.Leu3333=)
c.10007T>C (n.10007T>C)
c.9903T>C (p.Leu3301=)
ClinVar dbSNP gnomAD v4
13g.32398512T>GCA483440125BRCA2c.*522T>G (n.*522T>G)
c.*1366T>G (n.*1366T>G)
c.9630T>G (p.Leu3210=)
c.*1561T>G (n.*1561T>G)
c.9948T>G (p.Leu3316=)
c.2415T>G (p.Leu805=)
n.2126T>G
c.9999T>G (p.Leu3333=)
c.10007T>G (n.10007T>G)
c.9903T>G (p.Leu3301=)
13g.32398512T=CA2082836440BRCA2c.*522T= (n.*522T=)
c.*1366T= (n.*1366T=)
c.9630T= (p.Leu3210=)
c.*1561T= (n.*1561T=)
c.9948T= (p.Leu3316=)
c.2415T= (p.Leu805=)
n.2126T=
c.9999T= (p.Leu3333=)
c.10007T= (n.10007T=)
c.9903T= (p.Leu3301=)
13g.32398513T>ACA387767659BRCA2c.*523T>A (n.*523T>A)
c.*1367T>A (n.*1367T>A)
c.9631T>A (p.Leu3211Met)
c.*1562T>A (n.*1562T>A)
c.9949T>A (p.Leu3317Met)
c.2416T>A (p.Leu806Met)
n.2127T>A
c.10000T>A (p.Leu3334Met)
c.10008T>A (n.10008T>A)
c.9904T>A (p.Leu3302Met)
dbSNP
13g.32398513T>CCA483440129BRCA2c.*523T>C (n.*523T>C)
c.*1367T>C (n.*1367T>C)
c.9631T>C (p.Leu3211=)
c.*1562T>C (n.*1562T>C)
c.9949T>C (p.Leu3317=)
c.2416T>C (p.Leu806=)
n.2127T>C
c.10000T>C (p.Leu3334=)
c.10008T>C (n.10008T>C)
c.9904T>C (p.Leu3302=)
ClinVar dbSNP
13g.32398513T>GCA387767660BRCA2c.*523T>G (n.*523T>G)
c.*1367T>G (n.*1367T>G)
c.9631T>G (p.Leu3211Val)
c.*1562T>G (n.*1562T>G)
c.9949T>G (p.Leu3317Val)
c.2416T>G (p.Leu806Val)
n.2127T>G
c.10000T>G (p.Leu3334Val)
c.10008T>G (n.10008T>G)
c.9904T>G (p.Leu3302Val)
13g.32398513T=CA2082836447BRCA2c.*523T= (n.*523T=)
c.*1367T= (n.*1367T=)
c.9631T= (p.Leu3211=)
c.*1562T= (n.*1562T=)
c.9949T= (p.Leu3317=)
c.2416T= (p.Leu806=)
n.2127T=
c.10000T= (p.Leu3334=)
c.10008T= (n.10008T=)
c.9904T= (p.Leu3302=)
13g.32398514T>ACA387767663BRCA2c.*524T>A (n.*524T>A)
c.*1368T>A (n.*1368T>A)
c.9632T>A (p.Leu3211Ter)
c.*1563T>A (n.*1563T>A)
c.9950T>A (p.Leu3317Ter)
c.2417T>A (p.Leu806Ter)
n.2128T>A
c.10001T>A (p.Leu3334Ter)
c.10009T>A (n.10009T>A)
c.9905T>A (p.Leu3302Ter)
13g.32398514T>CCA387767665BRCA2c.*524T>C (n.*524T>C)
c.*1368T>C (n.*1368T>C)
c.9632T>C (p.Leu3211Ser)
c.*1563T>C (n.*1563T>C)
c.9950T>C (p.Leu3317Ser)
c.2417T>C (p.Leu806Ser)
n.2128T>C
c.10001T>C (p.Leu3334Ser)
c.10009T>C (n.10009T>C)
c.9905T>C (p.Leu3302Ser)
13g.32398514T>GCA387767666BRCA2c.*524T>G (n.*524T>G)
c.*1368T>G (n.*1368T>G)
c.9632T>G (p.Leu3211Trp)
c.*1563T>G (n.*1563T>G)
c.9950T>G (p.Leu3317Trp)
c.2417T>G (p.Leu806Trp)
n.2128T>G
c.10001T>G (p.Leu3334Trp)
c.10009T>G (n.10009T>G)
c.9905T>G (p.Leu3302Trp)
13g.32398515G>ACA483440132BRCA2c.*525G>A (n.*525G>A)
c.*1369G>A (n.*1369G>A)
c.9633G>A (p.Leu3211=)
c.*1564G>A (n.*1564G>A)
c.9951G>A (p.Leu3317=)
c.2418G>A (p.Leu806=)
n.2129G>A
c.10002G>A (p.Leu3334=)
c.10010G>A (n.10010G>A)
c.9906G>A (p.Leu3302=)
dbSNP
13g.32398515G>CCA387767667BRCA2c.*525G>C (n.*525G>C)
c.*1369G>C (n.*1369G>C)
c.9633G>C (p.Leu3211Phe)
c.*1564G>C (n.*1564G>C)
c.9951G>C (p.Leu3317Phe)
c.2418G>C (p.Leu806Phe)
n.2129G>C
c.10002G>C (p.Leu3334Phe)
c.10010G>C (n.10010G>C)
c.9906G>C (p.Leu3302Phe)
dbSNP
13g.32398515G=CA2082836485BRCA2c.*525G= (n.*525G=)
c.*1369G= (n.*1369G=)
c.9633G= (p.Leu3211=)
c.*1564G= (n.*1564G=)
c.9951G= (p.Leu3317=)
c.2418G= (p.Leu806=)
n.2129G=
c.10002G= (p.Leu3334=)
c.10010G= (n.10010G=)
c.9906G= (p.Leu3302=)
13g.32398515G>TCA387767669BRCA2c.*525G>T (n.*525G>T)
c.*1369G>T (n.*1369G>T)
c.9633G>T (p.Leu3211Phe)
c.*1564G>T (n.*1564G>T)
c.9951G>T (p.Leu3317Phe)
c.2418G>T (p.Leu806Phe)
n.2129G>T
c.10002G>T (p.Leu3334Phe)
c.10010G>T (n.10010G>T)
c.9906G>T (p.Leu3302Phe)
ClinVar dbSNP
13g.32398516G>ACA387767673BRCA2c.*526G>A (n.*526G>A)
c.*1370G>A (n.*1370G>A)
c.9634G>A (p.Glu3212Lys)
c.*1565G>A (n.*1565G>A)
c.9952G>A (p.Glu3318Lys)
c.2419G>A (p.Glu807Lys)
n.2130G>A
c.10003G>A (p.Glu3335Lys)
c.10011G>A (n.10011G>A)
c.9907G>A (p.Glu3303Lys)
ClinVar dbSNP
13g.32398516G>CCA387767676BRCA2c.*526G>C (n.*526G>C)
c.*1370G>C (n.*1370G>C)
c.9634G>C (p.Glu3212Gln)
c.*1565G>C (n.*1565G>C)
c.9952G>C (p.Glu3318Gln)
c.2419G>C (p.Glu807Gln)
n.2130G>C
c.10003G>C (p.Glu3335Gln)
c.10011G>C (n.10011G>C)
c.9907G>C (p.Glu3303Gln)
13g.32398516G>TCA387767674BRCA2c.*526G>T (n.*526G>T)
c.*1370G>T (n.*1370G>T)
c.9634G>T (p.Glu3212Ter)
c.*1565G>T (n.*1565G>T)
c.9952G>T (p.Glu3318Ter)
c.2419G>T (p.Glu807Ter)
n.2130G>T
c.10003G>T (p.Glu3335Ter)
c.10011G>T (n.10011G>T)
c.9907G>T (p.Glu3303Ter)
13g.32398517A>CCA387767678BRCA2c.*527A>C (n.*527A>C)
c.*1371A>C (n.*1371A>C)
c.9635A>C (p.Glu3212Ala)
c.*1566A>C (n.*1566A>C)
c.9953A>C (p.Glu3318Ala)
c.2420A>C (p.Glu807Ala)
n.2131A>C
c.10004A>C (p.Glu3335Ala)
c.10012A>C (n.10012A>C)
c.9908A>C (p.Glu3303Ala)
13g.32398517A>GCA387767679BRCA2c.*527A>G (n.*527A>G)
c.*1371A>G (n.*1371A>G)
c.9635A>G (p.Glu3212Gly)
c.*1566A>G (n.*1566A>G)
c.9953A>G (p.Glu3318Gly)
c.2420A>G (p.Glu807Gly)
n.2131A>G
c.10004A>G (p.Glu3335Gly)
c.10012A>G (n.10012A>G)
c.9908A>G (p.Glu3303Gly)
dbSNP
13g.32398517A>TCA387767681BRCA2c.*527A>T (n.*527A>T)
c.*1371A>T (n.*1371A>T)
c.9635A>T (p.Glu3212Val)
c.*1566A>T (n.*1566A>T)
c.9953A>T (p.Glu3318Val)
c.2420A>T (p.Glu807Val)
n.2131A>T
c.10004A>T (p.Glu3335Val)
c.10012A>T (n.10012A>T)
c.9908A>T (p.Glu3303Val)
dbSNP
13g.32398518A>CCA387767683BRCA2c.*528A>C (n.*528A>C)
c.*1372A>C (n.*1372A>C)
c.9636A>C (p.Glu3212Asp)
c.*1567A>C (n.*1567A>C)
c.9954A>C (p.Glu3318Asp)
c.2421A>C (p.Glu807Asp)
n.2132A>C
c.10005A>C (p.Glu3335Asp)
c.10013A>C (n.10013A>C)
c.9909A>C (p.Glu3303Asp)
dbSNP
13g.32398518A>GCA483440138BRCA2c.*528A>G (n.*528A>G)
c.*1372A>G (n.*1372A>G)
c.9636A>G (p.Glu3212=)
c.*1567A>G (n.*1567A>G)
c.9954A>G (p.Glu3318=)
c.2421A>G (p.Glu807=)
n.2132A>G
c.10005A>G (p.Glu3335=)
c.10013A>G (n.10013A>G)
c.9909A>G (p.Glu3303=)
dbSNP
13g.32398518A>TCA387767684BRCA2c.*528A>T (n.*528A>T)
c.*1372A>T (n.*1372A>T)
c.9636A>T (p.Glu3212Asp)
c.*1567A>T (n.*1567A>T)
c.9954A>T (p.Glu3318Asp)
c.2421A>T (p.Glu807Asp)
n.2132A>T
c.10005A>T (p.Glu3335Asp)
c.10013A>T (n.10013A>T)
c.9909A>T (p.Glu3303Asp)
dbSNP
13g.32398519A=CA2082836492BRCA2c.*529A= (n.*529A=)
c.*1373A= (n.*1373A=)
c.9637A= (p.Ser3213=)
c.*1568A= (n.*1568A=)
c.9955A= (p.Ser3319=)
c.2422A= (p.Ser808=)
n.2133A=
c.10006A= (p.Ser3336=)
c.10014A= (n.10014A=)
c.9910A= (p.Ser3304=)
13g.32398519A>CCA387767685BRCA2c.*529A>C (n.*529A>C)
c.*1373A>C (n.*1373A>C)
c.9637A>C (p.Ser3213Arg)
c.*1568A>C (n.*1568A>C)
c.9955A>C (p.Ser3319Arg)
c.2422A>C (p.Ser808Arg)
n.2133A>C
c.10006A>C (p.Ser3336Arg)
c.10014A>C (n.10014A>C)
c.9910A>C (p.Ser3304Arg)
ClinVar
13g.32398519A>GCA387767687BRCA2c.*529A>G (n.*529A>G)
c.*1373A>G (n.*1373A>G)
c.9637A>G (p.Ser3213Gly)
c.*1568A>G (n.*1568A>G)
c.9955A>G (p.Ser3319Gly)
c.2422A>G (p.Ser808Gly)
n.2133A>G
c.10006A>G (p.Ser3336Gly)
c.10014A>G (n.10014A>G)
c.9910A>G (p.Ser3304Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.32398519A>TCA387767688BRCA2c.*529A>T (n.*529A>T)
c.*1373A>T (n.*1373A>T)
c.9637A>T (p.Ser3213Cys)
c.*1568A>T (n.*1568A>T)
c.9955A>T (p.Ser3319Cys)
c.2422A>T (p.Ser808Cys)
n.2133A>T
c.10006A>T (p.Ser3336Cys)
c.10014A>T (n.10014A>T)
c.9910A>T (p.Ser3304Cys)
dbSNP
13g.32398520G>ACA387767690BRCA2c.*530G>A (n.*530G>A)
c.*1374G>A (n.*1374G>A)
c.9638G>A (p.Ser3213Asn)
c.*1569G>A (n.*1569G>A)
c.9956G>A (p.Ser3319Asn)
c.2423G>A (p.Ser808Asn)
n.2134G>A
c.10007G>A (p.Ser3336Asn)
c.10015G>A (n.10015G>A)
c.9911G>A (p.Ser3304Asn)
dbSNP
13g.32398520G>CCA010030BRCA2c.*530G>C (n.*530G>C)
c.*1374G>C (n.*1374G>C)
c.9638G>C (p.Ser3213Thr)
c.*1569G>C (n.*1569G>C)
c.9956G>C (p.Ser3319Thr)
c.2423G>C (p.Ser808Thr)
n.2134G>C
c.10007G>C (p.Ser3336Thr)
c.10015G>C (n.10015G>C)
c.9911G>C (p.Ser3304Thr)
ClinVar dbSNP
13g.32398520G=CA2082836497BRCA2c.*530G= (n.*530G=)
c.*1374G= (n.*1374G=)
c.9638G= (p.Ser3213=)
c.*1569G= (n.*1569G=)
c.9956G= (p.Ser3319=)
c.2423G= (p.Ser808=)
n.2134G=
c.10007G= (p.Ser3336=)
c.10015G= (n.10015G=)
c.9911G= (p.Ser3304=)
13g.32398520G>TCA387767691BRCA2c.*530G>T (n.*530G>T)
c.*1374G>T (n.*1374G>T)
c.9638G>T (p.Ser3213Ile)
c.*1569G>T (n.*1569G>T)
c.9956G>T (p.Ser3319Ile)
c.2423G>T (p.Ser808Ile)
n.2134G>T
c.10007G>T (p.Ser3336Ile)
c.10015G>T (n.10015G>T)
c.9911G>T (p.Ser3304Ile)
dbSNP
13g.32398521T>ACA387767695BRCA2c.*531T>A (n.*531T>A)
c.*1375T>A (n.*1375T>A)
c.9639T>A (p.Ser3213Arg)
c.*1570T>A (n.*1570T>A)
c.9957T>A (p.Ser3319Arg)
c.2424T>A (p.Ser808Arg)
n.2135T>A
c.10008T>A (p.Ser3336Arg)
c.10016T>A (n.10016T>A)
c.9912T>A (p.Ser3304Arg)
13g.32398521T>CCA483440146BRCA2c.*531T>C (n.*531T>C)
c.*1375T>C (n.*1375T>C)
c.9639T>C (p.Ser3213=)
c.*1570T>C (n.*1570T>C)
c.9957T>C (p.Ser3319=)
c.2424T>C (p.Ser808=)
n.2135T>C
c.10008T>C (p.Ser3336=)
c.10016T>C (n.10016T>C)
c.9912T>C (p.Ser3304=)
ClinVar
13g.32398521T>GCA387767693BRCA2c.*531T>G (n.*531T>G)
c.*1375T>G (n.*1375T>G)
c.9639T>G (p.Ser3213Arg)
c.*1570T>G (n.*1570T>G)
c.9957T>G (p.Ser3319Arg)
c.2424T>G (p.Ser808Arg)
n.2135T>G
c.10008T>G (p.Ser3336Arg)
c.10016T>G (n.10016T>G)
c.9912T>G (p.Ser3304Arg)
13g.32398522A=CA2082836503BRCA2c.*532A= (n.*532A=)
c.*1376A= (n.*1376A=)
c.9640A= (p.Asn3214=)
c.*1571A= (n.*1571A=)
c.9958A= (p.Asn3320=)
c.2425A= (p.Asn809=)
n.2136A=
c.10009A= (p.Asn3337=)
c.10017A= (n.10017A=)
c.9913A= (p.Asn3305=)
13g.32398522A>CCA387767697BRCA2c.*532A>C (n.*532A>C)
c.*1376A>C (n.*1376A>C)
c.9640A>C (p.Asn3214His)
c.*1571A>C (n.*1571A>C)
c.9958A>C (p.Asn3320His)
c.2425A>C (p.Asn809His)
n.2136A>C
c.10009A>C (p.Asn3337His)
c.10017A>C (n.10017A>C)
c.9913A>C (p.Asn3305His)
13g.32398522A>GCA387767699BRCA2c.*532A>G (n.*532A>G)
c.*1376A>G (n.*1376A>G)
c.9640A>G (p.Asn3214Asp)
c.*1571A>G (n.*1571A>G)
c.9958A>G (p.Asn3320Asp)
c.2425A>G (p.Asn809Asp)
n.2136A>G
c.10009A>G (p.Asn3337Asp)
c.10017A>G (n.10017A>G)
c.9913A>G (p.Asn3305Asp)
ClinVar dbSNP
13g.32398522A>TCA387767701BRCA2c.*532A>T (n.*532A>T)
c.*1376A>T (n.*1376A>T)
c.9640A>T (p.Asn3214Tyr)
c.*1571A>T (n.*1571A>T)
c.9958A>T (p.Asn3320Tyr)
c.2425A>T (p.Asn809Tyr)
n.2136A>T
c.10009A>T (p.Asn3337Tyr)
c.10017A>T (n.10017A>T)
c.9913A>T (p.Asn3305Tyr)
ClinVar dbSNP
13g.32398523A=CA2082836513BRCA2c.*533A= (n.*533A=)
c.*1377A= (n.*1377A=)
c.9641A= (p.Asn3214=)
c.*1572A= (n.*1572A=)
c.9959A= (p.Asn3320=)
c.2426A= (p.Asn809=)
n.2137A=
c.10010A= (p.Asn3337=)
c.10018A= (n.10018A=)
c.9914A= (p.Asn3305=)
13g.32398523A>CCA387767702BRCA2c.*533A>C (n.*533A>C)
c.*1377A>C (n.*1377A>C)
c.9641A>C (p.Asn3214Thr)
c.*1572A>C (n.*1572A>C)
c.9959A>C (p.Asn3320Thr)
c.2426A>C (p.Asn809Thr)
n.2137A>C
c.10010A>C (p.Asn3337Thr)
c.10018A>C (n.10018A>C)
c.9914A>C (p.Asn3305Thr)
ClinVar dbSNP gnomAD v4
13g.32398523A>GCA387767703BRCA2c.*533A>G (n.*533A>G)
c.*1377A>G (n.*1377A>G)
c.9641A>G (p.Asn3214Ser)
c.*1572A>G (n.*1572A>G)
c.9959A>G (p.Asn3320Ser)
c.2426A>G (p.Asn809Ser)
n.2137A>G
c.10010A>G (p.Asn3337Ser)
c.10018A>G (n.10018A>G)
c.9914A>G (p.Asn3305Ser)
dbSNP
13g.32398523A>TCA387767705BRCA2c.*533A>T (n.*533A>T)
c.*1377A>T (n.*1377A>T)
c.9641A>T (p.Asn3214Ile)
c.*1572A>T (n.*1572A>T)
c.9959A>T (p.Asn3320Ile)
c.2426A>T (p.Asn809Ile)
n.2137A>T
c.10010A>T (p.Asn3337Ile)
c.10018A>T (n.10018A>T)
c.9914A>T (p.Asn3305Ile)
13g.32398524T>ACA387767708BRCA2c.*534T>A (n.*534T>A)
c.*1378T>A (n.*1378T>A)
c.9642T>A (p.Asn3214Lys)
c.*1573T>A (n.*1573T>A)
c.9960T>A (p.Asn3320Lys)
c.2427T>A (p.Asn809Lys)
n.2138T>A
c.10011T>A (p.Asn3337Lys)
c.10019T>A (n.10019T>A)
c.9915T>A (p.Asn3305Lys)
dbSNP
13g.32398524T>CCA483440153BRCA2c.*534T>C (n.*534T>C)
c.*1378T>C (n.*1378T>C)
c.9642T>C (p.Asn3214=)
c.*1573T>C (n.*1573T>C)
c.9960T>C (p.Asn3320=)
c.2427T>C (p.Asn809=)
n.2138T>C
c.10011T>C (p.Asn3337=)
c.10019T>C (n.10019T>C)
c.9915T>C (p.Asn3305=)
ClinVar dbSNP
13g.32398524T>GCA387767706BRCA2c.*534T>G (n.*534T>G)
c.*1378T>G (n.*1378T>G)
c.9642T>G (p.Asn3214Lys)
c.*1573T>G (n.*1573T>G)
c.9960T>G (p.Asn3320Lys)
c.2427T>G (p.Asn809Lys)
n.2138T>G
c.10011T>G (p.Asn3337Lys)
c.10019T>G (n.10019T>G)
c.9915T>G (p.Asn3305Lys)
dbSNP
13g.32398525T>ACA387767710BRCA2c.*535T>A (n.*535T>A)
c.*1379T>A (n.*1379T>A)
c.9643T>A (p.Ser3215Thr)
c.*1574T>A (n.*1574T>A)
c.9961T>A (p.Ser3321Thr)
c.2428T>A (p.Ser810Thr)
n.2139T>A
c.10012T>A (p.Ser3338Thr)
c.10020T>A (n.10020T>A)
c.9916T>A (p.Ser3306Thr)
dbSNP
13g.32398525T>CCA387767711BRCA2c.*535T>C (n.*535T>C)
c.*1379T>C (n.*1379T>C)
c.9643T>C (p.Ser3215Pro)
c.*1574T>C (n.*1574T>C)
c.9961T>C (p.Ser3321Pro)
c.2428T>C (p.Ser810Pro)
n.2139T>C
c.10012T>C (p.Ser3338Pro)
c.10020T>C (n.10020T>C)
c.9916T>C (p.Ser3306Pro)
13g.32398525T>GCA387767712BRCA2c.*535T>G (n.*535T>G)
c.*1379T>G (n.*1379T>G)
c.9643T>G (p.Ser3215Ala)
c.*1574T>G (n.*1574T>G)
c.9961T>G (p.Ser3321Ala)
c.2428T>G (p.Ser810Ala)
n.2139T>G
c.10012T>G (p.Ser3338Ala)
c.10020T>G (n.10020T>G)
c.9916T>G (p.Ser3306Ala)
13g.32398526C>ACA387767714BRCA2c.*536C>A (n.*536C>A)
c.*1380C>A (n.*1380C>A)
c.9644C>A (p.Ser3215Ter)
c.*1575C>A (n.*1575C>A)
c.9962C>A (p.Ser3321Ter)
c.2429C>A (p.Ser810Ter)
n.2140C>A
c.10013C>A (p.Ser3338Ter)
c.10021C>A (n.10021C>A)
c.9917C>A (p.Ser3306Ter)
ClinVar dbSNP
13g.32398526C=CA2082836517BRCA2c.*536C= (n.*536C=)
c.*1380C= (n.*1380C=)
c.9644C= (p.Ser3215=)
c.*1575C= (n.*1575C=)
c.9962C= (p.Ser3321=)
c.2429C= (p.Ser810=)
n.2140C=
c.10013C= (p.Ser3338=)
c.10021C= (n.10021C=)
c.9917C= (p.Ser3306=)
13g.32398526C>GCA387767715BRCA2c.*536C>G (n.*536C>G)
c.*1380C>G (n.*1380C>G)
c.9644C>G (p.Ser3215Ter)
c.*1575C>G (n.*1575C>G)
c.9962C>G (p.Ser3321Ter)
c.2429C>G (p.Ser810Ter)
n.2140C>G
c.10013C>G (p.Ser3338Ter)
c.10021C>G (n.10021C>G)
c.9917C>G (p.Ser3306Ter)
ClinVar dbSNP
13g.32398526C>TCA387767716BRCA2c.*536C>T (n.*536C>T)
c.*1380C>T (n.*1380C>T)
c.9644C>T (p.Ser3215Leu)
c.*1575C>T (n.*1575C>T)
c.9962C>T (p.Ser3321Leu)
c.2429C>T (p.Ser810Leu)
n.2140C>T
c.10013C>T (p.Ser3338Leu)
c.10021C>T (n.10021C>T)
c.9917C>T (p.Ser3306Leu)
dbSNP
13g.32398527A=CA2082836522BRCA2c.*537A= (n.*537A=)
c.*1381A= (n.*1381A=)
c.9645A= (p.Ser3215=)
c.*1576A= (n.*1576A=)
c.9963A= (p.Ser3321=)
c.2430A= (p.Ser810=)
n.2141A=
c.10014A= (p.Ser3338=)
c.10022A= (n.10022A=)
c.9918A= (p.Ser3306=)
13g.32398527A>CCA483440160BRCA2c.*537A>C (n.*537A>C)
c.*1381A>C (n.*1381A>C)
c.9645A>C (p.Ser3215=)
c.*1576A>C (n.*1576A>C)
c.9963A>C (p.Ser3321=)
c.2430A>C (p.Ser810=)
n.2141A>C
c.10014A>C (p.Ser3338=)
c.10022A>C (n.10022A>C)
c.9918A>C (p.Ser3306=)
13g.32398527A>GCA483440162BRCA2c.*537A>G (n.*537A>G)
c.*1381A>G (n.*1381A>G)
c.9645A>G (p.Ser3215=)
c.*1576A>G (n.*1576A>G)
c.9963A>G (p.Ser3321=)
c.2430A>G (p.Ser810=)
n.2141A>G
c.10014A>G (p.Ser3338=)
c.10022A>G (n.10022A>G)
c.9918A>G (p.Ser3306=)
ClinVar dbSNP
13g.32398527A>TCA483440164BRCA2c.*537A>T (n.*537A>T)
c.*1381A>T (n.*1381A>T)
c.9645A>T (p.Ser3215=)
c.*1576A>T (n.*1576A>T)
c.9963A>T (p.Ser3321=)
c.2430A>T (p.Ser810=)
n.2141A>T
c.10014A>T (p.Ser3338=)
c.10022A>T (n.10022A>T)
c.9918A>T (p.Ser3306=)
dbSNP
13g.32398528A=CA2082836527BRCA2c.*538A= (n.*538A=)
c.*1382A= (n.*1382A=)
c.9646A= (p.Ile3216=)
c.*1577A= (n.*1577A=)
c.9964A= (p.Ile3322=)
c.2431A= (p.Ile811=)
n.2142A=
c.10015A= (p.Ile3339=)
c.10023A= (n.10023A=)
c.9919A= (p.Ile3307=)
13g.32398528A>CCA387767720BRCA2c.*538A>C (n.*538A>C)
c.*1382A>C (n.*1382A>C)
c.9646A>C (p.Ile3216Leu)
c.*1577A>C (n.*1577A>C)
c.9964A>C (p.Ile3322Leu)
c.2431A>C (p.Ile811Leu)
n.2142A>C
c.10015A>C (p.Ile3339Leu)
c.10023A>C (n.10023A>C)
c.9919A>C (p.Ile3307Leu)
dbSNP
13g.32398528A>GCA6941462BRCA2c.*538A>G (n.*538A>G)
c.*1382A>G (n.*1382A>G)
c.9646A>G (p.Ile3216Val)
c.*1577A>G (n.*1577A>G)
c.9964A>G (p.Ile3322Val)
c.2431A>G (p.Ile811Val)
n.2142A>G
c.10015A>G (p.Ile3339Val)
c.10023A>G (n.10023A>G)
c.9919A>G (p.Ile3307Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398528A>TCA387767718BRCA2c.*538A>T (n.*538A>T)
c.*1382A>T (n.*1382A>T)
c.9646A>T (p.Ile3216Leu)
c.*1577A>T (n.*1577A>T)
c.9964A>T (p.Ile3322Leu)
c.2431A>T (p.Ile811Leu)
n.2142A>T
c.10015A>T (p.Ile3339Leu)
c.10023A>T (n.10023A>T)
c.9919A>T (p.Ile3307Leu)
dbSNP
13g.32398528_32398529insGGCTCTTCTCTTTTCA2082836533BRCA2c.*538_*539insGGCTCTTCTCTTTT (n.*538_*539insGGCTCTTCTCTTTT)
c.*1382_*1383insGGCTCTTCTCTTTT (n.*1382_*1383insGGCTCTTCTCTTTT)
c.9646_9647insGGCTCTTCTCTTTT (p.Ile3216ArgfsTer6)
c.*1577_*1578insGGCTCTTCTCTTTT (n.*1577_*1578insGGCTCTTCTCTTTT)
c.9964_9965insGGCTCTTCTCTTTT (p.Ile3322ArgfsTer6)
c.2431_2432insGGCTCTTCTCTTTT (p.Ile811ArgfsTer6)
n.2142_2143insGGCTCTTCTCTTTT
c.10015_10016insGGCTCTTCTCTTTT (p.Ile3339ArgfsTer6)
c.10023_10024insGGCTCTTCTCTTTT (n.10023_10024insGGCTCTTCTCTTTT)
c.9919_9920insGGCTCTTCTCTTTT (p.Ile3307ArgfsTer6)
dbSNP
13g.32398529T>ACA387767722BRCA2c.*539T>A (n.*539T>A)
c.*1383T>A (n.*1383T>A)
c.9647T>A (p.Ile3216Lys)
c.*1578T>A (n.*1578T>A)
c.9965T>A (p.Ile3322Lys)
c.2432T>A (p.Ile811Lys)
n.2143T>A
c.10016T>A (p.Ile3339Lys)
c.10024T>A (n.10024T>A)
c.9920T>A (p.Ile3307Lys)
dbSNP
13g.32398529T>CCA387767723BRCA2c.*539T>C (n.*539T>C)
c.*1383T>C (n.*1383T>C)
c.9647T>C (p.Ile3216Thr)
c.*1578T>C (n.*1578T>C)
c.9965T>C (p.Ile3322Thr)
c.2432T>C (p.Ile811Thr)
n.2143T>C
c.10016T>C (p.Ile3339Thr)
c.10024T>C (n.10024T>C)
c.9920T>C (p.Ile3307Thr)
dbSNP gnomAD v4
13g.32398529T>GCA387767725BRCA2c.*539T>G (n.*539T>G)
c.*1383T>G (n.*1383T>G)
c.9647T>G (p.Ile3216Arg)
c.*1578T>G (n.*1578T>G)
c.9965T>G (p.Ile3322Arg)
c.2432T>G (p.Ile811Arg)
n.2143T>G
c.10016T>G (p.Ile3339Arg)
c.10024T>G (n.10024T>G)
c.9920T>G (p.Ile3307Arg)
dbSNP gnomAD v4
13g.32398529T=CA2082836537BRCA2c.*539T= (n.*539T=)
c.*1383T= (n.*1383T=)
c.9647T= (p.Ile3216=)
c.*1578T= (n.*1578T=)
c.9965T= (p.Ile3322=)
c.2432T= (p.Ile811=)
n.2143T=
c.10016T= (p.Ile3339=)
c.10024T= (n.10024T=)
c.9920T= (p.Ile3307=)
13g.32398530A>CCA483440168BRCA2c.*540A>C (n.*540A>C)
c.*1384A>C (n.*1384A>C)
c.9648A>C (p.Ile3216=)
c.*1579A>C (n.*1579A>C)
c.9966A>C (p.Ile3322=)
c.2433A>C (p.Ile811=)
n.2144A>C
c.10017A>C (p.Ile3339=)
c.10025A>C (n.10025A>C)
c.9921A>C (p.Ile3307=)
13g.32398530A>GCA387767727BRCA2c.*540A>G (n.*540A>G)
c.*1384A>G (n.*1384A>G)
c.9648A>G (p.Ile3216Met)
c.*1579A>G (n.*1579A>G)
c.9966A>G (p.Ile3322Met)
c.2433A>G (p.Ile811Met)
n.2144A>G
c.10017A>G (p.Ile3339Met)
c.10025A>G (n.10025A>G)
c.9921A>G (p.Ile3307Met)
dbSNP
13g.32398530A>TCA483440169BRCA2c.*540A>T (n.*540A>T)
c.*1384A>T (n.*1384A>T)
c.9648A>T (p.Ile3216=)
c.*1579A>T (n.*1579A>T)
c.9966A>T (p.Ile3322=)
c.2433A>T (p.Ile811=)
n.2144A>T
c.10017A>T (p.Ile3339=)
c.10025A>T (n.10025A>T)
c.9921A>T (p.Ile3307=)
dbSNP
13g.32398531G>ACA16606713BRCA2c.*541G>A (n.*541G>A)
c.*1385G>A (n.*1385G>A)
c.9649G>A (p.Ala3217Thr)
c.*1580G>A (n.*1580G>A)
c.9967G>A (p.Ala3323Thr)
c.2434G>A (p.Ala812Thr)
n.2145G>A
c.10018G>A (p.Ala3340Thr)
c.10026G>A (n.10026G>A)
c.9922G>A (p.Ala3308Thr)
ClinVar dbSNP
13g.32398531G>CCA387767728BRCA2c.*541G>C (n.*541G>C)
c.*1385G>C (n.*1385G>C)
c.9649G>C (p.Ala3217Pro)
c.*1580G>C (n.*1580G>C)
c.9967G>C (p.Ala3323Pro)
c.2434G>C (p.Ala812Pro)
n.2145G>C
c.10018G>C (p.Ala3340Pro)
c.10026G>C (n.10026G>C)
c.9922G>C (p.Ala3308Pro)
dbSNP
13g.32398531G=CA2082836541BRCA2c.*541G= (n.*541G=)
c.*1385G= (n.*1385G=)
c.9649G= (p.Ala3217=)
c.*1580G= (n.*1580G=)
c.9967G= (p.Ala3323=)
c.2434G= (p.Ala812=)
n.2145G=
c.10018G= (p.Ala3340=)
c.10026G= (n.10026G=)
c.9922G= (p.Ala3308=)
13g.32398531G>TCA387767729BRCA2c.*541G>T (n.*541G>T)
c.*1385G>T (n.*1385G>T)
c.9649G>T (p.Ala3217Ser)
c.*1580G>T (n.*1580G>T)
c.9967G>T (p.Ala3323Ser)
c.2434G>T (p.Ala812Ser)
n.2145G>T
c.10018G>T (p.Ala3340Ser)
c.10026G>T (n.10026G>T)
c.9922G>T (p.Ala3308Ser)
dbSNP
13g.32398532C>ACA387767730BRCA2c.*542C>A (n.*542C>A)
c.*1386C>A (n.*1386C>A)
c.9650C>A (p.Ala3217Asp)
c.*1581C>A (n.*1581C>A)
c.9968C>A (p.Ala3323Asp)
c.2435C>A (p.Ala812Asp)
n.2146C>A
c.10019C>A (p.Ala3340Asp)
c.10027C>A (n.10027C>A)
c.9923C>A (p.Ala3308Asp)
dbSNP
13g.32398532C=CA2082836550BRCA2c.*542C= (n.*542C=)
c.*1386C= (n.*1386C=)
c.9650C= (p.Ala3217=)
c.*1581C= (n.*1581C=)
c.9968C= (p.Ala3323=)
c.2435C= (p.Ala812=)
n.2146C=
c.10019C= (p.Ala3340=)
c.10027C= (n.10027C=)
c.9923C= (p.Ala3308=)
13g.32398532C>GCA387767731BRCA2c.*542C>G (n.*542C>G)
c.*1386C>G (n.*1386C>G)
c.9650C>G (p.Ala3217Gly)
c.*1581C>G (n.*1581C>G)
c.9968C>G (p.Ala3323Gly)
c.2435C>G (p.Ala812Gly)
n.2146C>G
c.10019C>G (p.Ala3340Gly)
c.10027C>G (n.10027C>G)
c.9923C>G (p.Ala3308Gly)
ClinVar dbSNP
13g.32398532C>TCA387767732BRCA2c.*542C>T (n.*542C>T)
c.*1386C>T (n.*1386C>T)
c.9650C>T (p.Ala3217Val)
c.*1581C>T (n.*1581C>T)
c.9968C>T (p.Ala3323Val)
c.2435C>T (p.Ala812Val)
n.2146C>T
c.10019C>T (p.Ala3340Val)
c.10027C>T (n.10027C>T)
c.9923C>T (p.Ala3308Val)
dbSNP
13g.32398533T>ACA483440323BRCA2c.*543T>A (n.*543T>A)
c.*1387T>A (n.*1387T>A)
c.9651T>A (p.Ala3217=)
c.*1582T>A (n.*1582T>A)
c.9969T>A (p.Ala3323=)
c.2436T>A (p.Ala812=)
n.2147T>A
c.10020T>A (p.Ala3340=)
c.10028T>A (n.10028T>A)
c.9924T>A (p.Ala3308=)
dbSNP
13g.32398533T>CCA483440324BRCA2c.*543T>C (n.*543T>C)
c.*1387T>C (n.*1387T>C)
c.9651T>C (p.Ala3217=)
c.*1582T>C (n.*1582T>C)
c.9969T>C (p.Ala3323=)
c.2436T>C (p.Ala812=)
n.2147T>C
c.10020T>C (p.Ala3340=)
c.10028T>C (n.10028T>C)
c.9924T>C (p.Ala3308=)
13g.32398533T>GCA483440326BRCA2c.*543T>G (n.*543T>G)
c.*1387T>G (n.*1387T>G)
c.9651T>G (p.Ala3217=)
c.*1582T>G (n.*1582T>G)
c.9969T>G (p.Ala3323=)
c.2436T>G (p.Ala812=)
n.2147T>G
c.10020T>G (p.Ala3340=)
c.10028T>G (n.10028T>G)
c.9924T>G (p.Ala3308=)
13g.32398534G>ACA387767733BRCA2c.*544G>A (n.*544G>A)
c.*1388G>A (n.*1388G>A)
c.9652G>A (p.Asp3218Asn)
c.*1583G>A (n.*1583G>A)
c.9970G>A (p.Asp3324Asn)
c.2437G>A (p.Asp813Asn)
n.2148G>A
c.10021G>A (p.Asp3341Asn)
c.10029G>A (n.10029G>A)
c.9925G>A (p.Asp3309Asn)
dbSNP
13g.32398534G>CCA387767734BRCA2c.*544G>C (n.*544G>C)
c.*1388G>C (n.*1388G>C)
c.9652G>C (p.Asp3218His)
c.*1583G>C (n.*1583G>C)
c.9970G>C (p.Asp3324His)
c.2437G>C (p.Asp813His)
n.2148G>C
c.10021G>C (p.Asp3341His)
c.10029G>C (n.10029G>C)
c.9925G>C (p.Asp3309His)
dbSNP
13g.32398534G>TCA387767736BRCA2c.*544G>T (n.*544G>T)
c.*1388G>T (n.*1388G>T)
c.9652G>T (p.Asp3218Tyr)
c.*1583G>T (n.*1583G>T)
c.9970G>T (p.Asp3324Tyr)
c.2437G>T (p.Asp813Tyr)
n.2148G>T
c.10021G>T (p.Asp3341Tyr)
c.10029G>T (n.10029G>T)
c.9925G>T (p.Asp3309Tyr)
dbSNP
13g.32398535A=CA2082836558BRCA2c.*545A= (n.*545A=)
c.*1389A= (n.*1389A=)
c.9653A= (p.Asp3218=)
c.*1584A= (n.*1584A=)
c.9971A= (p.Asp3324=)
c.2438A= (p.Asp813=)
n.2149A=
c.10022A= (p.Asp3341=)
c.10030A= (n.10030A=)
c.9926A= (p.Asp3309=)
13g.32398535A>CCA387767739BRCA2c.*545A>C (n.*545A>C)
c.*1389A>C (n.*1389A>C)
c.9653A>C (p.Asp3218Ala)
c.*1584A>C (n.*1584A>C)
c.9971A>C (p.Asp3324Ala)
c.2438A>C (p.Asp813Ala)
n.2149A>C
c.10022A>C (p.Asp3341Ala)
c.10030A>C (n.10030A>C)
c.9926A>C (p.Asp3309Ala)
dbSNP
13g.32398535A>GCA010048BRCA2c.*545A>G (n.*545A>G)
c.*1389A>G (n.*1389A>G)
c.9653A>G (p.Asp3218Gly)
c.*1584A>G (n.*1584A>G)
c.9971A>G (p.Asp3324Gly)
c.2438A>G (p.Asp813Gly)
n.2149A>G
c.10022A>G (p.Asp3341Gly)
c.10030A>G (n.10030A>G)
c.9926A>G (p.Asp3309Gly)
ClinVar dbSNP
13g.32398535A>TCA387767738BRCA2c.*545A>T (n.*545A>T)
c.*1389A>T (n.*1389A>T)
c.9653A>T (p.Asp3218Val)
c.*1584A>T (n.*1584A>T)
c.9971A>T (p.Asp3324Val)
c.2438A>T (p.Asp813Val)
n.2149A>T
c.10022A>T (p.Asp3341Val)
c.10030A>T (n.10030A>T)
c.9926A>T (p.Asp3309Val)
dbSNP
13g.32398536C>ACA6941463BRCA2c.*546C>A (n.*546C>A)
c.*1390C>A (n.*1390C>A)
c.9654C>A (p.Asp3218Glu)
c.*1585C>A (n.*1585C>A)
c.9972C>A (p.Asp3324Glu)
c.2439C>A (p.Asp813Glu)
n.2150C>A
c.10023C>A (p.Asp3341Glu)
c.10031C>A (n.10031C>A)
c.9927C>A (p.Asp3309Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398536C=CA2082836566BRCA2c.*546C= (n.*546C=)
c.*1390C= (n.*1390C=)
c.9654C= (p.Asp3218=)
c.*1585C= (n.*1585C=)
c.9972C= (p.Asp3324=)
c.2439C= (p.Asp813=)
n.2150C=
c.10023C= (p.Asp3341=)
c.10031C= (n.10031C=)
c.9927C= (p.Asp3309=)
13g.32398536C>GCA387767742BRCA2c.*546C>G (n.*546C>G)
c.*1390C>G (n.*1390C>G)
c.9654C>G (p.Asp3218Glu)
c.*1585C>G (n.*1585C>G)
c.9972C>G (p.Asp3324Glu)
c.2439C>G (p.Asp813Glu)
n.2150C>G
c.10023C>G (p.Asp3341Glu)
c.10031C>G (n.10031C>G)
c.9927C>G (p.Asp3309Glu)
ClinVar dbSNP
13g.32398536C>TCA010054BRCA2c.*546C>T (n.*546C>T)
c.*1390C>T (n.*1390C>T)
c.9654C>T (p.Asp3218=)
c.*1585C>T (n.*1585C>T)
c.9972C>T (p.Asp3324=)
c.2439C>T (p.Asp813=)
n.2150C>T
c.10023C>T (p.Asp3341=)
c.10031C>T (n.10031C>T)
c.9927C>T (p.Asp3309=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.32398537G>ACA010063BRCA2c.*547G>A (n.*547G>A)
c.*1391G>A (n.*1391G>A)
c.9655G>A (p.Glu3219Lys)
c.*1586G>A (n.*1586G>A)
c.9973G>A (p.Glu3325Lys)
c.2440G>A (p.Glu814Lys)
n.2151G>A
c.10024G>A (p.Glu3342Lys)
c.10032G>A (n.10032G>A)
c.9928G>A (p.Glu3310Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.32398537G>CCA387767747BRCA2c.*547G>C (n.*547G>C)
c.*1391G>C (n.*1391G>C)
c.9655G>C (p.Glu3219Gln)
c.*1586G>C (n.*1586G>C)
c.9973G>C (p.Glu3325Gln)
c.2440G>C (p.Glu814Gln)
n.2151G>C
c.10024G>C (p.Glu3342Gln)
c.10032G>C (n.10032G>C)
c.9928G>C (p.Glu3310Gln)
dbSNP
13g.32398537G=CA2082836577BRCA2c.*547G= (n.*547G=)
c.*1391G= (n.*1391G=)
c.9655G= (p.Glu3219=)
c.*1586G= (n.*1586G=)
c.9973G= (p.Glu3325=)
c.2440G= (p.Glu814=)
n.2151G=
c.10024G= (p.Glu3342=)
c.10032G= (n.10032G=)
c.9928G= (p.Glu3310=)
13g.32398537G>TCA010072BRCA2c.*547G>T (n.*547G>T)
c.*1391G>T (n.*1391G>T)
c.9655G>T (p.Glu3219Ter)
c.*1586G>T (n.*1586G>T)
c.9973G>T (p.Glu3325Ter)
c.2440G>T (p.Glu814Ter)
n.2151G>T
c.10024G>T (p.Glu3342Ter)
c.10032G>T (n.10032G>T)
c.9928G>T (p.Glu3310Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched