Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32398161_32398770delinsGATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA | CA2082833839 | BRCA2 | c.*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 | |
13 | g.32398162_32398770del | CA913190737 | BRCA2 | c.*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 |
13 | g.32398162_32399672del | CA658798102 | BRCA2 | c.*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 |
13 | g.32398437C>A | CA10589578 | BRCA2 | c.*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 |
13 | g.32398437C= | CA2082835978 | BRCA2 | c.*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=) | |
13 | g.32398437C>G | CA026332 | BRCA2 | c.*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 |
13 | g.32398437C>T | CA026333 | BRCA2 | c.*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 |
13 | g.32398438G>A | CA026334 | BRCA2 | c.*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 |
13 | g.32398438G>C | CA387767097 | BRCA2 | c.*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) | |
13 | g.32398438G= | CA2082835990 | BRCA2 | c.*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=) | |
13 | g.32398438G>T | CA026335 | BRCA2 | c.*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 |
13 | g.32398438_32398439delinsTT | CA2580087470 | BRCA2 | c.*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 |
13 | g.32398439A= | CA2082835998 | BRCA2 | c.*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=) | |
13 | g.32398439A>C | CA387767101 | BRCA2 | c.*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) | |
13 | g.32398439A>G | CA16619798 | BRCA2 | c.*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 |
13 | g.32398439A>T | CA387767103 | BRCA2 | c.*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 |
13 | g.32398440A>C | CA387767106 | BRCA2 | c.*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 |
13 | g.32398440A>G | CA483440007 | BRCA2 | c.*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 |
13 | g.32398440A>T | CA387767111 | BRCA2 | c.*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) | |
13 | g.32398441A>C | CA387767113 | BRCA2 | c.*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) | |
13 | g.32398441A>G | CA387767117 | BRCA2 | c.*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) | |
13 | g.32398441A>T | CA387767120 | BRCA2 | c.*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) | |
13 | g.32398442C>A | CA387767121 | BRCA2 | c.*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 |
13 | g.32398442C>G | CA387767124 | BRCA2 | c.*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 |
13 | g.32398442C>T | CA387767127 | BRCA2 | c.*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 |
13 | g.32398443A= | CA2082836008 | BRCA2 | c.*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=) | |
13 | g.32398443A>C | CA6941457 | BRCA2 | c.*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 |
13 | g.32398443A>G | CA483440009 | BRCA2 | c.*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 |
13 | g.32398443A>T | CA483440010 | BRCA2 | c.*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=) | |
13 | g.32398444C>A | CA387767137 | BRCA2 | c.*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 |
13 | g.32398444C= | CA2082836020 | BRCA2 | c.*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=) | |
13 | g.32398444C>G | CA387767140 | BRCA2 | c.*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 |
13 | g.32398444C>T | CA387767135 | BRCA2 | c.*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 |
13 | g.32398446del | CA2580087471 | BRCA2 | c.*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 |
13 | g.32398445C>A | CA387767144 | BRCA2 | c.*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 |
13 | g.32398445C= | CA2082836033 | BRCA2 | c.*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=) | |
13 | g.32398445C>G | CA16619799 | BRCA2 | c.*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 |
13 | g.32398445C>T | CA16614260 | BRCA2 | c.*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 |
13 | g.32398446C>A | CA483440011 | BRCA2 | c.*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 |
13 | g.32398446C= | CA2082836040 | BRCA2 | c.*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=) | |
13 | g.32398446C>G | CA483440013 | BRCA2 | c.*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 |
13 | g.32398446C>T | CA483440012 | BRCA2 | c.*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 |
13 | g.32398447A= | CA2082836046 | BRCA2 | c.*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=) | |
13 | g.32398447A>C | CA387767149 | BRCA2 | c.*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) | |
13 | g.32398447A>G | CA026337 | BRCA2 | c.*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 |
13 | g.32398447A>T | CA387767153 | BRCA2 | c.*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 |
13 | g.32398448T>A | CA387767159 | BRCA2 | c.*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 |
13 | g.32398448T>C | CA387767162 | BRCA2 | c.*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 |
13 | g.32398448T>G | CA387767166 | BRCA2 | c.*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) | |
13 | g.32398448T= | CA2082836061 | BRCA2 | c.*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=) | |
13 | g.32398448_32398452delinsTAAAG | CA2082836055 | BRCA2 | c.*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=) | |
13 | g.32398449A= | CA2082836072 | BRCA2 | c.*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=) | |
13 | g.32398449A>C | CA483440017 | BRCA2 | c.*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=) | |
13 | g.32398449A>G | CA026338 | BRCA2 | c.*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 |
13 | g.32398449A>T | CA483440018 | BRCA2 | c.*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 |
13 | g.32398452_32398455del | CA16619800 | BRCA2 | c.*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 |
13 | g.32398450A= | CA2082836081 | BRCA2 | c.*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=) | |
13 | g.32398450A>C | CA387767182 | BRCA2 | c.*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 |
13 | g.32398450A>G | CA10577502 | BRCA2 | c.*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 |
13 | g.32398450A>T | CA387767187 | BRCA2 | c.*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 |
13 | g.32398451A= | CA2082836086 | BRCA2 | c.*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=) | |
13 | g.32398451A>C | CA387767190 | BRCA2 | c.*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 |
13 | g.32398451A>G | CA387767194 | BRCA2 | c.*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 |
13 | g.32398451A>T | CA387767197 | BRCA2 | c.*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) | |
13 | g.32398452G>A | CA483440019 | BRCA2 | c.*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 |
13 | g.32398452G>C | CA387767200 | BRCA2 | c.*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 |
13 | g.32398452G= | CA2082836096 | BRCA2 | c.*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=) | |
13 | g.32398452G>T | CA387767204 | BRCA2 | c.*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 |
13 | g.32398452_32398453delinsGA | CA2082836100 | BRCA2 | c.*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=) | |
13 | g.32398453A= | CA2082836116 | BRCA2 | c.*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=) | |
13 | g.32398453A>C | CA387767228 | BRCA2 | c.*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) | |
13 | g.32398453A>G | CA387767214 | BRCA2 | c.*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 |
13 | g.32398453A>T | CA387767225 | BRCA2 | c.*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 |
13 | g.32398458dup | CA645586596 | BRCA2 | c.*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 |
13 | g.32398458del | CA026341 | BRCA2 | c.*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 |
13 | g.32398454A= | CA2082836127 | BRCA2 | c.*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=) | |
13 | g.32398454A>C | CA387767232 | BRCA2 | c.*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) | |
13 | g.32398454A>G | CA387767235 | BRCA2 | c.*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 |
13 | g.32398454A>T | CA387767238 | BRCA2 | c.*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 |
13 | g.32398455A= | CA2082836132 | BRCA2 | c.*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=) | |
13 | g.32398455A>C | CA16613986 | BRCA2 | c.*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 |
13 | g.32398455A>G | CA483440024 | BRCA2 | c.*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=) | |
13 | g.32398455A>T | CA387767247 | BRCA2 | c.*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 |
13 | g.32398457_32398461del | CA2573053833 | BRCA2 | c.*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 |
13 | g.32398456A>C | CA387767251 | BRCA2 | c.*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) | |
13 | g.32398456A>G | CA387767254 | BRCA2 | c.*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) | |
13 | g.32398456A>T | CA387767256 | BRCA2 | c.*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 |
13 | g.32398456_32398459delinsAAAG | CA2082836138 | BRCA2 | c.*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=) | |
13 | g.32398457A= | CA2082836142 | BRCA2 | c.*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=) | |
13 | g.32398457A>C | CA10579851 | BRCA2 | c.*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 |
13 | g.32398457A>G | CA387767260 | BRCA2 | c.*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 |
13 | g.32398457A>T | CA387767266 | BRCA2 | c.*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 |
13 | g.32398459_32398461del | CA916080545 | BRCA2 | c.*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 |
13 | g.32398458A= | CA2082836147 | BRCA2 | c.*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=) | |
13 | g.32398458A>C | CA387767267 | BRCA2 | c.*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) | |
13 | g.32398458A>G | CA026340 | BRCA2 | c.*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 |
13 | g.32398458A>T | CA387767274 | BRCA2 | c.*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 |
13 | g.32398459_32398460del | CA2695217834 | BRCA2 | c.*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) | |
13 | g.32398459G>A | CA387767277 | BRCA2 | c.*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 |
13 | g.32398459G>C | CA387767278 | BRCA2 | c.*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 |
13 | g.32398459G= | CA2082836154 | BRCA2 | c.*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=) | |
13 | g.32398459G>T | CA6941458 | BRCA2 | c.*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 |
13 | g.32398460A= | CA2082836161 | BRCA2 | c.*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=) | |
13 | g.32398460A>C | CA387767283 | BRCA2 | c.*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 |
13 | g.32398460A>G | CA387767284 | BRCA2 | c.*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 |
13 | g.32398460A>T | CA387767286 | BRCA2 | c.*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 |
13 | g.32398461A>C | CA387767289 | BRCA2 | c.*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 |
13 | g.32398461A>G | CA483440027 | BRCA2 | c.*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 |
13 | g.32398461A>T | CA387767292 | BRCA2 | c.*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 |
13 | g.32398462C>A | CA387767301 | BRCA2 | c.*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 |
13 | g.32398462C= | CA2082836170 | BRCA2 | c.*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=) | |
13 | g.32398462C>G | CA387767297 | BRCA2 | c.*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 |
13 | g.32398462C>T | CA026344 | BRCA2 | c.*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 |
13 | g.32398463T>A | CA387767306 | BRCA2 | c.*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 |
13 | g.32398463T>C | CA387767309 | BRCA2 | c.*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) | |
13 | g.32398463T>G | CA387767319 | BRCA2 | c.*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) | |
13 | g.32398463T= | CA2082836175 | BRCA2 | c.*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=) | |
13 | g.32398464G>A | CA336015 | BRCA2 | c.*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 |
13 | g.32398464G>C | CA483440029 | BRCA2 | c.*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 |
13 | g.32398464G= | CA2082836184 | BRCA2 | c.*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=) | |
13 | g.32398464G>T | CA483440030 | BRCA2 | c.*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 |
13 | g.32398465A= | CA2082836192 | BRCA2 | c.*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=) | |
13 | g.32398465A>C | CA026346 | BRCA2 | c.*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 |
13 | g.32398465A>G | CA387767329 | BRCA2 | c.*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 |
13 | g.32398465A>T | CA387767332 | BRCA2 | c.*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 |
13 | g.32398466A= | CA2082836202 | BRCA2 | c.*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=) | |
13 | g.32398466A>C | CA387767336 | BRCA2 | c.*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) | |
13 | g.32398466A>G | CA16614407 | BRCA2 | c.*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 |
13 | g.32398466A>T | CA387767339 | BRCA2 | c.*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 |
13 | g.32398467T>A | CA387767348 | BRCA2 | c.*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 |
13 | g.32398467T>C | CA483440032 | BRCA2 | c.*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 |
13 | g.32398467T>G | CA387767352 | BRCA2 | c.*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 |
13 | g.32398468T>A | CA387767366 | BRCA2 | c.*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 |
13 | g.32398468T>C | CA387767359 | BRCA2 | c.*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 |
13 | g.32398468T>G | CA387767356 | BRCA2 | c.*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) | |
13 | g.32398468_32398471delinsTCTC | CA2082836208 | BRCA2 | c.*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=) | |
13 | g.32398469C>A | CA247509281 | BRCA2 | c.*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 |
13 | g.32398469C= | CA2082836214 | BRCA2 | c.*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=) | |
13 | g.32398469C>G | CA387767367 | BRCA2 | c.*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) | |
13 | g.32398469C>T | CA026347 | BRCA2 | c.*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 |
13 | g.32398472_32398474del | CA6941459 | BRCA2 | c.*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 |
13 | g.32398470T>A | CA483440034 | BRCA2 | c.*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=) | |
13 | g.32398470T>C | CA483440035 | BRCA2 | c.*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=) | |
13 | g.32398470T>G | CA483440036 | BRCA2 | c.*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=) | |
13 | g.32398471C>A | CA387767373 | BRCA2 | c.*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 |
13 | g.32398471C= | CA2082836220 | BRCA2 | c.*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=) | |
13 | g.32398471C>G | CA387767381 | BRCA2 | c.*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 |
13 | g.32398471C>T | CA387767384 | BRCA2 | c.*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 |
13 | g.32398472C>A | CA387767385 | BRCA2 | c.*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 |
13 | g.32398472C= | CA2082836227 | BRCA2 | c.*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=) | |
13 | g.32398472C>G | CA387767386 | BRCA2 | c.*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 |
13 | g.32398472C>T | CA387767387 | BRCA2 | c.*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 |
13 | g.32398473T>A | CA483440038 | BRCA2 | c.*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 |
13 | g.32398473T>C | CA483440040 | BRCA2 | c.*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 |
13 | g.32398473T>G | CA483440039 | BRCA2 | c.*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 |
13 | g.32398474C>A | CA387767388 | BRCA2 | c.*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 |
13 | g.32398474C= | CA2082836234 | BRCA2 | c.*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=) | |
13 | g.32398474C>G | CA387767389 | BRCA2 | c.*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 |
13 | g.32398474C>T | CA387767390 | BRCA2 | c.*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 |
13 | g.32398475A>C | CA387767398 | BRCA2 | c.*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) | |
13 | g.32398475A>G | CA387767397 | BRCA2 | c.*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) | |
13 | g.32398475A>T | CA387767394 | BRCA2 | c.*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 |
13 | g.32398476G>A | CA483440043 | BRCA2 | c.*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 |
13 | g.32398476G>C | CA387767400 | BRCA2 | c.*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 |
13 | g.32398476G= | CA2082836243 | BRCA2 | c.*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=) | |
13 | g.32398476G>T | CA387767403 | BRCA2 | c.*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 |
13 | g.32398477A>C | CA387767406 | BRCA2 | c.*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 |
13 | g.32398477A>G | CA387767409 | BRCA2 | c.*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) | |
13 | g.32398477A>T | CA387767410 | BRCA2 | c.*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 |
13 | g.32398478T>A | CA387767415 | BRCA2 | c.*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 |
13 | g.32398478T>C | CA387767419 | BRCA2 | c.*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 |
13 | g.32398478T>G | CA387767423 | BRCA2 | c.*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 |
13 | g.32398478T= | CA2082836248 | BRCA2 | c.*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=) | |
13 | g.32398479G>A | CA387767426 | BRCA2 | c.*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 |
13 | g.32398479G>C | CA387767429 | BRCA2 | c.*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 |
13 | g.32398479G>T | CA387767430 | BRCA2 | c.*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 |
13 | g.32398480A>C | CA387767431 | BRCA2 | c.*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 |
13 | g.32398480A>G | CA387767432 | BRCA2 | c.*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) | |
13 | g.32398480A>T | CA387767435 | BRCA2 | c.*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 |
13 | g.32398480dup | CA2622602759 | BRCA2 | c.*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 |
13 | g.32398481C>A | CA387767438 | BRCA2 | c.*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 |
13 | g.32398481C= | CA2082836257 | BRCA2 | c.*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=) | |
13 | g.32398481C>G | CA387767443 | BRCA2 | c.*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 |
13 | g.32398481C>T | CA387767437 | BRCA2 | c.*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 |
13 | g.32398482T>A | CA483440050 | BRCA2 | c.*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 |
13 | g.32398482T>C | CA483440049 | BRCA2 | c.*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=) | |
13 | g.32398482T>G | CA483440048 | BRCA2 | c.*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=) | |
13 | g.32398483C>A | CA387767447 | BRCA2 | c.*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 |
13 | g.32398483C>G | CA387767450 | BRCA2 | c.*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 |
13 | g.32398483C>T | CA387767454 | BRCA2 | c.*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 |
13 | g.32398484C>A | CA387767460 | BRCA2 | c.*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 |
13 | g.32398484C= | CA2082836267 | BRCA2 | c.*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=) | |
13 | g.32398484C>G | CA387767464 | BRCA2 | c.*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 |
13 | g.32398484C>T | CA387767467 | BRCA2 | c.*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 |
13 | g.32398485A= | CA2082836285 | BRCA2 | c.*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=) | |
13 | g.32398485A>C | CA483440053 | BRCA2 | c.*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=) | |
13 | g.32398485A>G | CA026349 | BRCA2 | c.*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 |
13 | g.32398485A>T | CA483440055 | BRCA2 | c.*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 |
13 | g.32398486T>A | CA387767471 | BRCA2 | c.*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 |
13 | g.32398486T>C | CA387767473 | BRCA2 | c.*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 |
13 | g.32398486T>G | CA387767475 | BRCA2 | c.*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 |
13 | g.32398486T= | CA2082836289 | BRCA2 | c.*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=) | |
13 | g.32398488dup | CA2695217835 | BRCA2 | c.*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) | |
13 | g.32398487_32398571del | CA609453952 | BRCA2 | c.*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 |
13 | g.32398487T>A | CA387767480 | BRCA2 | c.*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) | |
13 | g.32398487T>C | CA387767482 | BRCA2 | c.*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) | |
13 | g.32398487T>G | CA387767485 | BRCA2 | c.*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) | |
13 | g.32398488T>A | CA387767487 | BRCA2 | c.*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) | |
13 | g.32398488T>C | CA483440059 | BRCA2 | c.*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=) | |
13 | g.32398488T>G | CA387767501 | BRCA2 | c.*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 |
13 | g.32398488T= | CA2082836292 | BRCA2 | c.*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=) | |
13 | g.32398489A= | CA2082836301 | BRCA2 | c.*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=) | |
13 | g.32398489A>C | CA387767504 | BRCA2 | c.*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) | |
13 | g.32398489A>G | CA387767507 | BRCA2 | c.*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) | |
13 | g.32398489A>T | CA026350 | BRCA2 | c.*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 |
13 | g.32398494dup | CA609453953 | BRCA2 | c.*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 |
13 | g.32398494del | CA2580087480 | BRCA2 | c.*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 |
13 | g.32398490A= | CA2082836307 | BRCA2 | c.*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=) | |
13 | g.32398490A>C | CA387767514 | BRCA2 | c.*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 |
13 | g.32398490A>G | CA387767519 | BRCA2 | c.*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) | |
13 | g.32398490A>T | CA387767523 | BRCA2 | c.*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 |
13 | g.32398491A>C | CA387767528 | BRCA2 | c.*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) | |
13 | g.32398491A>G | CA483440062 | BRCA2 | c.*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 |
13 | g.32398491A>T | CA387767531 | BRCA2 | c.*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) | |
13 | g.32398492A>C | CA387767533 | BRCA2 | c.*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) | |
13 | g.32398492A>G | CA387767534 | BRCA2 | c.*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 |
13 | g.32398492A>T | CA387767535 | BRCA2 | c.*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 |
13 | g.32398493A>C | CA387767541 | BRCA2 | c.*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 |
13 | g.32398493A>G | CA387767538 | BRCA2 | c.*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) | |
13 | g.32398493A>T | CA387767536 | BRCA2 | c.*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 |
13 | g.32398494A= | CA2082836316 | BRCA2 | c.*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=) | |
13 | g.32398494A>C | CA387767542 | BRCA2 | c.*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) | |
13 | g.32398494A>G | CA483440067 | BRCA2 | c.*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 |
13 | g.32398494A>T | CA026351 | BRCA2 | c.*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 |
13 | g.32398495T>A | CA387767543 | BRCA2 | c.*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 |
13 | g.32398495T>C | CA387767546 | BRCA2 | c.*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 |
13 | g.32398495T>G | CA387767545 | BRCA2 | c.*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) | |
13 | g.32398496T>A | CA387767552 | BRCA2 | c.*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 |
13 | g.32398496T>C | CA387767564 | BRCA2 | c.*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) | |
13 | g.32398496T>G | CA6941460 | BRCA2 | c.*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 |
13 | g.32398496T= | CA2082836325 | BRCA2 | c.*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=) | |
13 | g.32398497C>A | CA387767566 | BRCA2 | c.*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 |
13 | g.32398497C>G | CA387767569 | BRCA2 | c.*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 |
13 | g.32398497C>T | CA483440074 | BRCA2 | c.*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 |
13 | g.32398497_32398498delinsCA | CA2082836329 | BRCA2 | c.*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=) | |
13 | g.32398498A= | CA2082836345 | BRCA2 | c.*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=) | |
13 | g.32398498A>C | CA387767571 | BRCA2 | c.*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 |
13 | g.32398498A>G | CA387767572 | BRCA2 | c.*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) | |
13 | g.32398498A>T | CA387767573 | BRCA2 | c.*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 |
13 | g.32398499del | CA16619801 | BRCA2 | c.*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 |
13 | g.32398498_32398499insGGCCGGGCGCGGTGGCTCACGCCTGT | CA2622602761 | BRCA2 | c.*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 |
13 | g.32398499A= | CA2082836367 | BRCA2 | c.*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=) | |
13 | g.32398499A>C | CA6941461 | BRCA2 | c.*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 |
13 | g.32398499A>G | CA026352 | BRCA2 | c.*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 |
13 | g.32398499A>T | CA387767584 | BRCA2 | c.*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 |
13 | g.32398500T>A | CA387767586 | BRCA2 | c.*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 |
13 | g.32398500T>C | CA483440080 | BRCA2 | c.*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=) | |
13 | g.32398500T>G | CA387767588 | BRCA2 | c.*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) | |
13 | g.32398501G>A | CA387767590 | BRCA2 | c.*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 |
13 | g.32398501G>C | CA387767592 | BRCA2 | c.*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 |
13 | g.32398501G>T | CA387767593 | BRCA2 | c.*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 |
13 | g.32398502A>C | CA387767598 | BRCA2 | c.*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) | |
13 | g.32398502A>G | CA387767595 | BRCA2 | c.*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) | |
13 | g.32398502A>T | CA387767594 | BRCA2 | c.*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 |
13 | g.32398503A= | CA2082836371 | BRCA2 | c.*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=) | |
13 | g.32398503A>C | CA16606711 | BRCA2 | c.*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 |
13 | g.32398503A>G | CA483440090 | BRCA2 | c.*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 |
13 | g.32398503A>T | CA387767607 | BRCA2 | c.*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 |
13 | g.32398503_32398505del | CA2695217836 | BRCA2 | c.*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) | |
13 | g.32398504A>C | CA387767609 | BRCA2 | c.*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) | |
13 | g.32398504A>G | CA387767611 | BRCA2 | c.*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) | |
13 | g.32398504A>T | CA387767614 | BRCA2 | c.*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) | |
13 | g.32398505T>A | CA387767615 | BRCA2 | c.*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 |
13 | g.32398505T>C | CA387767616 | BRCA2 | c.*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 |
13 | g.32398505T>G | CA387767617 | BRCA2 | c.*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) | |
13 | g.32398506T>A | CA16607503 | BRCA2 | c.*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 |
13 | g.32398506T>C | CA483440097 | BRCA2 | c.*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=) | |
13 | g.32398506T>G | CA387767619 | BRCA2 | c.*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) | |
13 | g.32398506T= | CA2082836382 | BRCA2 | c.*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=) | |
13 | g.32398506_32398508delinsTTC | CA2082836383 | BRCA2 | c.*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=) | |
13 | g.32398507T>A | CA387767623 | BRCA2 | c.*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 |
13 | g.32398507T>C | CA387767625 | BRCA2 | c.*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) | |
13 | g.32398507T>G | CA387767628 | BRCA2 | c.*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 |
13 | g.32398510_32398511del | CA026354 | BRCA2 | c.*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 |
13 | g.32398508C>A | CA10579852 | BRCA2 | c.*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 |
13 | g.32398508C= | CA2082836404 | BRCA2 | c.*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=) | |
13 | g.32398508C>G | CA16607505 | BRCA2 | c.*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 |
13 | g.32398508C>T | CA387767642 | BRCA2 | c.*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 |
13 | g.32398508_32398517delinsCTCTTTTGGA | CA2082836403 | BRCA2 | c.*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=) | |
13 | g.32398509T>A | CA483440107 | BRCA2 | c.*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 |
13 | g.32398509T>C | CA483440113 | BRCA2 | c.*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 |
13 | g.32398509T>G | CA483440114 | BRCA2 | c.*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=) | |
13 | g.32398509_32398517delinsCCTTTGGG | CA913190452 | BRCA2 | c.*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 |
13 | g.32398510C>A | CA387767650 | BRCA2 | c.*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 |
13 | g.32398510C= | CA2082836415 | BRCA2 | c.*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=) | |
13 | g.32398510C>G | CA026355 | BRCA2 | c.*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 |
13 | g.32398510C>T | CA387767651 | BRCA2 | c.*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 |
13 | g.32398511T>A | CA387767653 | BRCA2 | c.*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 |
13 | g.32398511T>C | CA387767656 | BRCA2 | c.*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 |
13 | g.32398511T>G | CA387767658 | BRCA2 | c.*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) | |
13 | g.32398511T= | CA2082836427 | BRCA2 | c.*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=) | |
13 | g.32398512T>A | CA483440122 | BRCA2 | c.*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 |
13 | g.32398512T>C | CA483440124 | BRCA2 | c.*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 |
13 | g.32398512T>G | CA483440125 | BRCA2 | c.*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=) | |
13 | g.32398512T= | CA2082836440 | BRCA2 | c.*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=) | |
13 | g.32398513T>A | CA387767659 | BRCA2 | c.*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 |
13 | g.32398513T>C | CA483440129 | BRCA2 | c.*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 |
13 | g.32398513T>G | CA387767660 | BRCA2 | c.*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) | |
13 | g.32398513T= | CA2082836447 | BRCA2 | c.*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=) | |
13 | g.32398514T>A | CA387767663 | BRCA2 | c.*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) | |
13 | g.32398514T>C | CA387767665 | BRCA2 | c.*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) | |
13 | g.32398514T>G | CA387767666 | BRCA2 | c.*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) | |
13 | g.32398515G>A | CA483440132 | BRCA2 | c.*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 |
13 | g.32398515G>C | CA387767667 | BRCA2 | c.*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 |
13 | g.32398515G= | CA2082836485 | BRCA2 | c.*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=) | |
13 | g.32398515G>T | CA387767669 | BRCA2 | c.*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 |
13 | g.32398516G>A | CA387767673 | BRCA2 | c.*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 |
13 | g.32398516G>C | CA387767676 | BRCA2 | c.*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) | |
13 | g.32398516G>T | CA387767674 | BRCA2 | c.*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) | |
13 | g.32398517A>C | CA387767678 | BRCA2 | c.*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) | |
13 | g.32398517A>G | CA387767679 | BRCA2 | c.*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 |
13 | g.32398517A>T | CA387767681 | BRCA2 | c.*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 |
13 | g.32398518A>C | CA387767683 | BRCA2 | c.*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 |
13 | g.32398518A>G | CA483440138 | BRCA2 | c.*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 |
13 | g.32398518A>T | CA387767684 | BRCA2 | c.*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 |
13 | g.32398519A= | CA2082836492 | BRCA2 | c.*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=) | |
13 | g.32398519A>C | CA387767685 | BRCA2 | c.*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 |
13 | g.32398519A>G | CA387767687 | BRCA2 | c.*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 |
13 | g.32398519A>T | CA387767688 | BRCA2 | c.*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 |
13 | g.32398520G>A | CA387767690 | BRCA2 | c.*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 |
13 | g.32398520G>C | CA010030 | BRCA2 | c.*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 |
13 | g.32398520G= | CA2082836497 | BRCA2 | c.*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=) | |
13 | g.32398520G>T | CA387767691 | BRCA2 | c.*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 |
13 | g.32398521T>A | CA387767695 | BRCA2 | c.*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) | |
13 | g.32398521T>C | CA483440146 | BRCA2 | c.*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 |
13 | g.32398521T>G | CA387767693 | BRCA2 | c.*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) | |
13 | g.32398522A= | CA2082836503 | BRCA2 | c.*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=) | |
13 | g.32398522A>C | CA387767697 | BRCA2 | c.*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) | |
13 | g.32398522A>G | CA387767699 | BRCA2 | c.*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 |
13 | g.32398522A>T | CA387767701 | BRCA2 | c.*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 |
13 | g.32398523A= | CA2082836513 | BRCA2 | c.*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=) | |
13 | g.32398523A>C | CA387767702 | BRCA2 | c.*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 |
13 | g.32398523A>G | CA387767703 | BRCA2 | c.*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 |
13 | g.32398523A>T | CA387767705 | BRCA2 | c.*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) | |
13 | g.32398524T>A | CA387767708 | BRCA2 | c.*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 |
13 | g.32398524T>C | CA483440153 | BRCA2 | c.*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 |
13 | g.32398524T>G | CA387767706 | BRCA2 | c.*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 |
13 | g.32398525T>A | CA387767710 | BRCA2 | c.*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 |
13 | g.32398525T>C | CA387767711 | BRCA2 | c.*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) | |
13 | g.32398525T>G | CA387767712 | BRCA2 | c.*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) | |
13 | g.32398526C>A | CA387767714 | BRCA2 | c.*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 |
13 | g.32398526C= | CA2082836517 | BRCA2 | c.*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=) | |
13 | g.32398526C>G | CA387767715 | BRCA2 | c.*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 |
13 | g.32398526C>T | CA387767716 | BRCA2 | c.*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 |
13 | g.32398527A= | CA2082836522 | BRCA2 | c.*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=) | |
13 | g.32398527A>C | CA483440160 | BRCA2 | c.*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=) | |
13 | g.32398527A>G | CA483440162 | BRCA2 | c.*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 |
13 | g.32398527A>T | CA483440164 | BRCA2 | c.*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 |
13 | g.32398528A= | CA2082836527 | BRCA2 | c.*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=) | |
13 | g.32398528A>C | CA387767720 | BRCA2 | c.*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 |
13 | g.32398528A>G | CA6941462 | BRCA2 | c.*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 |
13 | g.32398528A>T | CA387767718 | BRCA2 | c.*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 |
13 | g.32398528_32398529insGGCTCTTCTCTTTT | CA2082836533 | BRCA2 | c.*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 |
13 | g.32398529T>A | CA387767722 | BRCA2 | c.*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 |
13 | g.32398529T>C | CA387767723 | BRCA2 | c.*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 |
13 | g.32398529T>G | CA387767725 | BRCA2 | c.*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 |
13 | g.32398529T= | CA2082836537 | BRCA2 | c.*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=) | |
13 | g.32398530A>C | CA483440168 | BRCA2 | c.*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=) | |
13 | g.32398530A>G | CA387767727 | BRCA2 | c.*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 |
13 | g.32398530A>T | CA483440169 | BRCA2 | c.*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 |
13 | g.32398531G>A | CA16606713 | BRCA2 | c.*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 |
13 | g.32398531G>C | CA387767728 | BRCA2 | c.*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 |
13 | g.32398531G= | CA2082836541 | BRCA2 | c.*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=) | |
13 | g.32398531G>T | CA387767729 | BRCA2 | c.*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 |
13 | g.32398532C>A | CA387767730 | BRCA2 | c.*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 |
13 | g.32398532C= | CA2082836550 | BRCA2 | c.*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=) | |
13 | g.32398532C>G | CA387767731 | BRCA2 | c.*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 |
13 | g.32398532C>T | CA387767732 | BRCA2 | c.*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 |
13 | g.32398533T>A | CA483440323 | BRCA2 | c.*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 |
13 | g.32398533T>C | CA483440324 | BRCA2 | c.*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=) | |
13 | g.32398533T>G | CA483440326 | BRCA2 | c.*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=) | |
13 | g.32398534G>A | CA387767733 | BRCA2 | c.*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 |
13 | g.32398534G>C | CA387767734 | BRCA2 | c.*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 |
13 | g.32398534G>T | CA387767736 | BRCA2 | c.*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 |
13 | g.32398535A= | CA2082836558 | BRCA2 | c.*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=) | |
13 | g.32398535A>C | CA387767739 | BRCA2 | c.*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 |
13 | g.32398535A>G | CA010048 | BRCA2 | c.*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 |
13 | g.32398535A>T | CA387767738 | BRCA2 | c.*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 |
13 | g.32398536C>A | CA6941463 | BRCA2 | c.*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 |
13 | g.32398536C= | CA2082836566 | BRCA2 | c.*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=) | |
13 | g.32398536C>G | CA387767742 | BRCA2 | c.*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 |
13 | g.32398536C>T | CA010054 | BRCA2 | c.*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 |
13 | g.32398537G>A | CA010063 | BRCA2 | c.*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 |
13 | g.32398537G>C | CA387767747 | BRCA2 | c.*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 |
13 | g.32398537G= | CA2082836577 | BRCA2 | c.*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=) | |
13 | g.32398537G>T | CA010072 | BRCA2 | c.*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 |