| 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.32398389G>A | CA026320 | BRCA2 | c.*399G>A (n.*399G>A) c.*1243G>A (n.*1243G>A) c.9507G>A (p.Pro3169=) c.*1438G>A (n.*1438G>A) c.9825G>A (p.Pro3275=) c.2292G>A (p.Pro764=) n.2003G>A c.9876G>A (p.Pro3292=) c.9884G>A (n.9884G>A) n.464G>A c.9780G>A (p.Pro3260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398389G>C | CA483440213 | BRCA2 | c.*399G>C (n.*399G>C) c.*1243G>C (n.*1243G>C) c.9507G>C (p.Pro3169=) c.*1438G>C (n.*1438G>C) c.9825G>C (p.Pro3275=) c.2292G>C (p.Pro764=) n.2003G>C c.9876G>C (p.Pro3292=) c.9884G>C (n.9884G>C) n.464G>C c.9780G>C (p.Pro3260=) | ClinVar dbSNP |
| 13 | g.32398389G= | CA2082835716 | BRCA2 | c.*399G= (n.*399G=) c.*1243G= (n.*1243G=) c.9507G= (p.Pro3169=) c.*1438G= (n.*1438G=) c.9825G= (p.Pro3275=) c.2292G= (p.Pro764=) n.2003G= c.9876G= (p.Pro3292=) c.9884G= (n.9884G=) n.464G= c.9780G= (p.Pro3260=) | |
| 13 | g.32398389G>T | CA483440212 | BRCA2 | c.*399G>T (n.*399G>T) c.*1243G>T (n.*1243G>T) c.9507G>T (p.Pro3169=) c.*1438G>T (n.*1438G>T) c.9825G>T (p.Pro3275=) c.2292G>T (p.Pro764=) n.2003G>T c.9876G>T (p.Pro3292=) c.9884G>T (n.9884G>T) n.464G>T c.9780G>T (p.Pro3260=) | ClinVar dbSNP |
| 13 | g.32398390G>A | CA387766708 | BRCA2 | c.*400G>A (n.*400G>A) c.*1244G>A (n.*1244G>A) c.9508G>A (p.Ala3170Thr) c.*1439G>A (n.*1439G>A) c.9826G>A (p.Ala3276Thr) c.2293G>A (p.Ala765Thr) n.2004G>A c.9877G>A (p.Ala3293Thr) c.9885G>A (n.9885G>A) n.465G>A c.9781G>A (p.Ala3261Thr) | dbSNP |
| 13 | g.32398390G>C | CA387766711 | BRCA2 | c.*400G>C (n.*400G>C) c.*1244G>C (n.*1244G>C) c.9508G>C (p.Ala3170Pro) c.*1439G>C (n.*1439G>C) c.9826G>C (p.Ala3276Pro) c.2293G>C (p.Ala765Pro) n.2004G>C c.9877G>C (p.Ala3293Pro) c.9885G>C (n.9885G>C) n.465G>C c.9781G>C (p.Ala3261Pro) | dbSNP |
| 13 | g.32398390G>T | CA387766714 | BRCA2 | c.*400G>T (n.*400G>T) c.*1244G>T (n.*1244G>T) c.9508G>T (p.Ala3170Ser) c.*1439G>T (n.*1439G>T) c.9826G>T (p.Ala3276Ser) c.2293G>T (p.Ala765Ser) n.2004G>T c.9877G>T (p.Ala3293Ser) c.9885G>T (n.9885G>T) n.465G>T c.9781G>T (p.Ala3261Ser) | dbSNP |
| 13 | g.32398391C>A | CA387766717 | BRCA2 | c.*401C>A (n.*401C>A) c.*1245C>A (n.*1245C>A) c.9509C>A (p.Ala3170Asp) c.*1440C>A (n.*1440C>A) c.9827C>A (p.Ala3276Asp) c.2294C>A (p.Ala765Asp) n.2005C>A c.9878C>A (p.Ala3293Asp) c.9886C>A (n.9886C>A) n.466C>A c.9782C>A (p.Ala3261Asp) | dbSNP |
| 13 | g.32398391C>G | CA387766718 | BRCA2 | c.*401C>G (n.*401C>G) c.*1245C>G (n.*1245C>G) c.9509C>G (p.Ala3170Gly) c.*1440C>G (n.*1440C>G) c.9827C>G (p.Ala3276Gly) c.2294C>G (p.Ala765Gly) n.2005C>G c.9878C>G (p.Ala3293Gly) c.9886C>G (n.9886C>G) n.466C>G c.9782C>G (p.Ala3261Gly) | dbSNP |
| 13 | g.32398391C>T | CA387766720 | BRCA2 | c.*401C>T (n.*401C>T) c.*1245C>T (n.*1245C>T) c.9509C>T (p.Ala3170Val) c.*1440C>T (n.*1440C>T) c.9827C>T (p.Ala3276Val) c.2294C>T (p.Ala765Val) n.2005C>T c.9878C>T (p.Ala3293Val) c.9886C>T (n.9886C>T) n.466C>T c.9782C>T (p.Ala3261Val) | ClinVar dbSNP |
| 13 | g.32398392T>A | CA483440215 | BRCA2 | c.*402T>A (n.*402T>A) c.*1246T>A (n.*1246T>A) c.9510T>A (p.Ala3170=) c.*1441T>A (n.*1441T>A) c.9828T>A (p.Ala3276=) c.2295T>A (p.Ala765=) n.2006T>A c.9879T>A (p.Ala3293=) c.9887T>A (n.9887T>A) n.467T>A c.9783T>A (p.Ala3261=) | dbSNP |
| 13 | g.32398392T>C | CA483440216 | BRCA2 | c.*402T>C (n.*402T>C) c.*1246T>C (n.*1246T>C) c.9510T>C (p.Ala3170=) c.*1441T>C (n.*1441T>C) c.9828T>C (p.Ala3276=) c.2295T>C (p.Ala765=) n.2006T>C c.9879T>C (p.Ala3293=) c.9887T>C (n.9887T>C) n.467T>C c.9783T>C (p.Ala3261=) | |
| 13 | g.32398392T>G | CA483440217 | BRCA2 | c.*402T>G (n.*402T>G) c.*1246T>G (n.*1246T>G) c.9510T>G (p.Ala3170=) c.*1441T>G (n.*1441T>G) c.9828T>G (p.Ala3276=) c.2295T>G (p.Ala765=) n.2006T>G c.9879T>G (p.Ala3293=) c.9887T>G (n.9887T>G) n.467T>G c.9783T>G (p.Ala3261=) | |
| 13 | g.32398393G>A | CA387766726 | BRCA2 | c.*403G>A (n.*403G>A) c.*1247G>A (n.*1247G>A) c.9511G>A (p.Ala3171Thr) c.*1442G>A (n.*1442G>A) c.9829G>A (p.Ala3277Thr) c.2296G>A (p.Ala766Thr) n.2007G>A c.9880G>A (p.Ala3294Thr) c.9888G>A (n.9888G>A) n.468G>A c.9784G>A (p.Ala3262Thr) | ClinVar dbSNP |
| 13 | g.32398393G>C | CA387766728 | BRCA2 | c.*403G>C (n.*403G>C) c.*1247G>C (n.*1247G>C) c.9511G>C (p.Ala3171Pro) c.*1442G>C (n.*1442G>C) c.9829G>C (p.Ala3277Pro) c.2296G>C (p.Ala766Pro) n.2007G>C c.9880G>C (p.Ala3294Pro) c.9888G>C (n.9888G>C) n.468G>C c.9784G>C (p.Ala3262Pro) | dbSNP |
| 13 | g.32398393G>T | CA387766723 | BRCA2 | c.*403G>T (n.*403G>T) c.*1247G>T (n.*1247G>T) c.9511G>T (p.Ala3171Ser) c.*1442G>T (n.*1442G>T) c.9829G>T (p.Ala3277Ser) c.2296G>T (p.Ala766Ser) n.2007G>T c.9880G>T (p.Ala3294Ser) c.9888G>T (n.9888G>T) n.468G>T c.9784G>T (p.Ala3262Ser) | dbSNP |
| 13 | g.32398394C>A | CA387766732 | BRCA2 | c.*404C>A (n.*404C>A) c.*1248C>A (n.*1248C>A) c.9512C>A (p.Ala3171Glu) c.*1443C>A (n.*1443C>A) c.9830C>A (p.Ala3277Glu) c.2297C>A (p.Ala766Glu) n.2008C>A c.9881C>A (p.Ala3294Glu) c.9889C>A (n.9889C>A) n.469C>A c.9785C>A (p.Ala3262Glu) | dbSNP |
| 13 | g.32398394C>G | CA387766734 | BRCA2 | c.*404C>G (n.*404C>G) c.*1248C>G (n.*1248C>G) c.9512C>G (p.Ala3171Gly) c.*1443C>G (n.*1443C>G) c.9830C>G (p.Ala3277Gly) c.2297C>G (p.Ala766Gly) n.2008C>G c.9881C>G (p.Ala3294Gly) c.9889C>G (n.9889C>G) n.469C>G c.9785C>G (p.Ala3262Gly) | dbSNP |
| 13 | g.32398394C>T | CA387766733 | BRCA2 | c.*404C>T (n.*404C>T) c.*1248C>T (n.*1248C>T) c.9512C>T (p.Ala3171Val) c.*1443C>T (n.*1443C>T) c.9830C>T (p.Ala3277Val) c.2297C>T (p.Ala766Val) n.2008C>T c.9881C>T (p.Ala3294Val) c.9889C>T (n.9889C>T) n.469C>T c.9785C>T (p.Ala3262Val) | dbSNP |
| 13 | g.32398395A= | CA2082835727 | BRCA2 | c.*405A= (n.*405A=) c.*1249A= (n.*1249A=) c.9513A= (p.Ala3171=) c.*1444A= (n.*1444A=) c.9831A= (p.Ala3277=) c.2298A= (p.Ala766=) n.2009A= c.9882A= (p.Ala3294=) c.9890A= (n.9890A=) n.470A= c.9786A= (p.Ala3262=) | |
| 13 | g.32398395A>C | CA483440220 | BRCA2 | c.*405A>C (n.*405A>C) c.*1249A>C (n.*1249A>C) c.9513A>C (p.Ala3171=) c.*1444A>C (n.*1444A>C) c.9831A>C (p.Ala3277=) c.2298A>C (p.Ala766=) n.2009A>C c.9882A>C (p.Ala3294=) c.9890A>C (n.9890A>C) n.470A>C c.9786A>C (p.Ala3262=) | ClinVar dbSNP |
| 13 | g.32398395A>G | CA483440221 | BRCA2 | c.*405A>G (n.*405A>G) c.*1249A>G (n.*1249A>G) c.9513A>G (p.Ala3171=) c.*1444A>G (n.*1444A>G) c.9831A>G (p.Ala3277=) c.2298A>G (p.Ala766=) n.2009A>G c.9882A>G (p.Ala3294=) c.9890A>G (n.9890A>G) n.470A>G c.9786A>G (p.Ala3262=) | ClinVar dbSNP |
| 13 | g.32398395A>T | CA483440222 | BRCA2 | c.*405A>T (n.*405A>T) c.*1249A>T (n.*1249A>T) c.9513A>T (p.Ala3171=) c.*1444A>T (n.*1444A>T) c.9831A>T (p.Ala3277=) c.2298A>T (p.Ala766=) n.2009A>T c.9882A>T (p.Ala3294=) c.9890A>T (n.9890A>T) n.470A>T c.9786A>T (p.Ala3262=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398396C>A | CA387766735 | BRCA2 | c.*406C>A (n.*406C>A) c.*1250C>A (n.*1250C>A) c.9514C>A (p.Gln3172Lys) c.*1445C>A (n.*1445C>A) c.9832C>A (p.Gln3278Lys) c.2299C>A (p.Gln767Lys) n.2010C>A c.9883C>A (p.Gln3295Lys) c.9891C>A (n.9891C>A) n.471C>A c.9787C>A (p.Gln3263Lys) | dbSNP |
| 13 | g.32398396C= | CA2082835732 | BRCA2 | c.*406C= (n.*406C=) c.*1250C= (n.*1250C=) c.9514C= (p.Gln3172=) c.*1445C= (n.*1445C=) c.9832C= (p.Gln3278=) c.2299C= (p.Gln767=) n.2010C= c.9883C= (p.Gln3295=) c.9891C= (n.9891C=) n.471C= c.9787C= (p.Gln3263=) | |
| 13 | g.32398396C>G | CA387766738 | BRCA2 | c.*406C>G (n.*406C>G) c.*1250C>G (n.*1250C>G) c.9514C>G (p.Gln3172Glu) c.*1445C>G (n.*1445C>G) c.9832C>G (p.Gln3278Glu) c.2299C>G (p.Gln767Glu) n.2010C>G c.9883C>G (p.Gln3295Glu) c.9891C>G (n.9891C>G) n.471C>G c.9787C>G (p.Gln3263Glu) | dbSNP |
| 13 | g.32398396C>T | CA026321 | BRCA2 | c.*406C>T (n.*406C>T) c.*1250C>T (n.*1250C>T) c.9514C>T (p.Gln3172Ter) c.*1445C>T (n.*1445C>T) c.9832C>T (p.Gln3278Ter) c.2299C>T (p.Gln767Ter) n.2010C>T c.9883C>T (p.Gln3295Ter) c.9891C>T (n.9891C>T) n.471C>T c.9787C>T (p.Gln3263Ter) | ClinVar dbSNP |
| 13 | g.32398397A= | CA2082835739 | BRCA2 | c.*407A= (n.*407A=) c.*1251A= (n.*1251A=) c.9515A= (p.Gln3172=) c.*1446A= (n.*1446A=) c.9833A= (p.Gln3278=) c.2300A= (p.Gln767=) n.2011A= c.9884A= (p.Gln3295=) c.9892A= (n.9892A=) n.472A= c.9788A= (p.Gln3263=) | |
| 13 | g.32398397A>C | CA387766742 | BRCA2 | c.*407A>C (n.*407A>C) c.*1251A>C (n.*1251A>C) c.9515A>C (p.Gln3172Pro) c.*1446A>C (n.*1446A>C) c.9833A>C (p.Gln3278Pro) c.2300A>C (p.Gln767Pro) n.2011A>C c.9884A>C (p.Gln3295Pro) c.9892A>C (n.9892A>C) n.472A>C c.9788A>C (p.Gln3263Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32398397A>G | CA387766744 | BRCA2 | c.*407A>G (n.*407A>G) c.*1251A>G (n.*1251A>G) c.9515A>G (p.Gln3172Arg) c.*1446A>G (n.*1446A>G) c.9833A>G (p.Gln3278Arg) c.2300A>G (p.Gln767Arg) n.2011A>G c.9884A>G (p.Gln3295Arg) c.9892A>G (n.9892A>G) n.472A>G c.9788A>G (p.Gln3263Arg) | dbSNP |
| 13 | g.32398397A>T | CA387766753 | BRCA2 | c.*407A>T (n.*407A>T) c.*1251A>T (n.*1251A>T) c.9515A>T (p.Gln3172Leu) c.*1446A>T (n.*1446A>T) c.9833A>T (p.Gln3278Leu) c.2300A>T (p.Gln767Leu) n.2011A>T c.9884A>T (p.Gln3295Leu) c.9892A>T (n.9892A>T) n.472A>T c.9788A>T (p.Gln3263Leu) | ClinVar dbSNP |
| 13 | g.32398398G>A | CA483440226 | BRCA2 | c.*408G>A (n.*408G>A) c.*1252G>A (n.*1252G>A) c.9516G>A (p.Gln3172=) c.*1447G>A (n.*1447G>A) c.9834G>A (p.Gln3278=) c.2301G>A (p.Gln767=) n.2012G>A c.9885G>A (p.Gln3295=) c.9893G>A (n.9893G>A) n.473G>A c.9789G>A (p.Gln3263=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398398G>C | CA387766758 | BRCA2 | c.*408G>C (n.*408G>C) c.*1252G>C (n.*1252G>C) c.9516G>C (p.Gln3172His) c.*1447G>C (n.*1447G>C) c.9834G>C (p.Gln3278His) c.2301G>C (p.Gln767His) n.2012G>C c.9885G>C (p.Gln3295His) c.9893G>C (n.9893G>C) n.473G>C c.9789G>C (p.Gln3263His) | dbSNP |
| 13 | g.32398398G= | CA2082835748 | BRCA2 | c.*408G= (n.*408G=) c.*1252G= (n.*1252G=) c.9516G= (p.Gln3172=) c.*1447G= (n.*1447G=) c.9834G= (p.Gln3278=) c.2301G= (p.Gln767=) n.2012G= c.9885G= (p.Gln3295=) c.9893G= (n.9893G=) n.473G= c.9789G= (p.Gln3263=) | |
| 13 | g.32398398G>T | CA387766761 | BRCA2 | c.*408G>T (n.*408G>T) c.*1252G>T (n.*1252G>T) c.9516G>T (p.Gln3172His) c.*1447G>T (n.*1447G>T) c.9834G>T (p.Gln3278His) c.2301G>T (p.Gln767His) n.2012G>T c.9885G>T (p.Gln3295His) c.9893G>T (n.9893G>T) n.473G>T c.9789G>T (p.Gln3263His) | |
| 13 | g.32398398_32398399delinsGA | CA2082835751 | BRCA2 | c.*408_*409delinsGA (n.*408_*409delinsGA) c.*1252_*1253delinsGA (n.*1252_*1253delinsGA) c.9516_9517delinsGA (p.Gln3172=) c.*1447_*1448delinsGA (n.*1447_*1448delinsGA) c.9834_9835delinsGA (p.Gln3278=) c.2301_2302delinsGA (p.Gln767=) n.2012_2013delinsGA c.9885_9886delinsGA (p.Gln3295=) c.9893_9894delinsGA (n.9893_9894delinsGA) n.473_474delinsGA c.9789_9790delinsGA (p.Gln3263=) | |
| 13 | g.32398399A>C | CA387766762 | BRCA2 | c.*409A>C (n.*409A>C) c.*1253A>C (n.*1253A>C) c.9517A>C (p.Lys3173Gln) c.*1448A>C (n.*1448A>C) c.9835A>C (p.Lys3279Gln) c.2302A>C (p.Lys768Gln) n.2013A>C c.9886A>C (p.Lys3296Gln) c.9894A>C (n.9894A>C) n.474A>C c.9790A>C (p.Lys3264Gln) | dbSNP |
| 13 | g.32398399A>G | CA387766763 | BRCA2 | c.*409A>G (n.*409A>G) c.*1253A>G (n.*1253A>G) c.9517A>G (p.Lys3173Glu) c.*1448A>G (n.*1448A>G) c.9835A>G (p.Lys3279Glu) c.2302A>G (p.Lys768Glu) n.2013A>G c.9886A>G (p.Lys3296Glu) c.9894A>G (n.9894A>G) n.474A>G c.9790A>G (p.Lys3264Glu) | dbSNP |
| 13 | g.32398399A>T | CA387766764 | BRCA2 | c.*409A>T (n.*409A>T) c.*1253A>T (n.*1253A>T) c.9517A>T (p.Lys3173Ter) c.*1448A>T (n.*1448A>T) c.9835A>T (p.Lys3279Ter) c.2302A>T (p.Lys768Ter) n.2013A>T c.9886A>T (p.Lys3296Ter) c.9894A>T (n.9894A>T) n.474A>T c.9790A>T (p.Lys3264Ter) | dbSNP |
| 13 | g.32398400del | CA658798107 | BRCA2 | c.*410del (n.*410del) c.*1254del (n.*1254del) c.9518del (p.Lys3173ArgfsTer17) c.*1449del (n.*1449del) c.9836del (p.Lys3279ArgfsTer17) c.2303del (p.Lys768ArgfsTer17) n.2014del c.9887del (p.Lys3296ArgfsTer17) c.9895del (n.9895del) n.475del c.9791del (p.Lys3264ArgfsTer17) | ClinVar dbSNP |
| 13 | g.32398400A>C | CA387766768 | BRCA2 | c.*410A>C (n.*410A>C) c.*1254A>C (n.*1254A>C) c.9518A>C (p.Lys3173Thr) c.*1449A>C (n.*1449A>C) c.9836A>C (p.Lys3279Thr) c.2303A>C (p.Lys768Thr) n.2014A>C c.9887A>C (p.Lys3296Thr) c.9895A>C (n.9895A>C) n.475A>C c.9791A>C (p.Lys3264Thr) | |
| 13 | g.32398400A>G | CA387766769 | BRCA2 | c.*410A>G (n.*410A>G) c.*1254A>G (n.*1254A>G) c.9518A>G (p.Lys3173Arg) c.*1449A>G (n.*1449A>G) c.9836A>G (p.Lys3279Arg) c.2303A>G (p.Lys768Arg) n.2014A>G c.9887A>G (p.Lys3296Arg) c.9895A>G (n.9895A>G) n.475A>G c.9791A>G (p.Lys3264Arg) | |
| 13 | g.32398400A>T | CA387766774 | BRCA2 | c.*410A>T (n.*410A>T) c.*1254A>T (n.*1254A>T) c.9518A>T (p.Lys3173Met) c.*1449A>T (n.*1449A>T) c.9836A>T (p.Lys3279Met) c.2303A>T (p.Lys768Met) n.2014A>T c.9887A>T (p.Lys3296Met) c.9895A>T (n.9895A>T) n.475A>T c.9791A>T (p.Lys3264Met) | dbSNP |
| 13 | g.32398401G>A | CA483440228 | BRCA2 | c.*411G>A (n.*411G>A) c.*1255G>A (n.*1255G>A) c.9519G>A (p.Lys3173=) c.*1450G>A (n.*1450G>A) c.9837G>A (p.Lys3279=) c.2304G>A (p.Lys768=) n.2015G>A c.9888G>A (p.Lys3296=) c.9896G>A (n.9896G>A) n.476G>A c.9792G>A (p.Lys3264=) | ClinVar dbSNP |
| 13 | g.32398401G>C | CA387766783 | BRCA2 | c.*411G>C (n.*411G>C) c.*1255G>C (n.*1255G>C) c.9519G>C (p.Lys3173Asn) c.*1450G>C (n.*1450G>C) c.9837G>C (p.Lys3279Asn) c.2304G>C (p.Lys768Asn) n.2015G>C c.9888G>C (p.Lys3296Asn) c.9896G>C (n.9896G>C) n.476G>C c.9792G>C (p.Lys3264Asn) | |
| 13 | g.32398401G= | CA2082835760 | BRCA2 | c.*411G= (n.*411G=) c.*1255G= (n.*1255G=) c.9519G= (p.Lys3173=) c.*1450G= (n.*1450G=) c.9837G= (p.Lys3279=) c.2304G= (p.Lys768=) n.2015G= c.9888G= (p.Lys3296=) c.9896G= (n.9896G=) n.476G= c.9792G= (p.Lys3264=) | |
| 13 | g.32398401G>T | CA387766777 | BRCA2 | c.*411G>T (n.*411G>T) c.*1255G>T (n.*1255G>T) c.9519G>T (p.Lys3173Asn) c.*1450G>T (n.*1450G>T) c.9837G>T (p.Lys3279Asn) c.2304G>T (p.Lys768Asn) n.2015G>T c.9888G>T (p.Lys3296Asn) c.9896G>T (n.9896G>T) n.476G>T c.9792G>T (p.Lys3264Asn) |