| 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.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.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) | 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=) |