| 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.32398599_32398884del | CA2580611892 | BRCA2 | c.*609_*894del (n.*609_*894del) c.*1453_*1738del (n.*1453_*1738del) c.9717_*114del (n.[c.9717_*114del;Phe3239LeufsTer?]) c.*1648_*1933del (n.*1648_*1933del) c.10035_*114del (n.[c.10035_*114del;Phe3345LeufsTer?]) n.2213_2498del c.10086_*114del (n.[c.10086_*114del;Phe3362LeufsTer?]) c.10094_10379del (n.10094_10379del) c.9990_*114del (n.[c.9990_*114del;Phe3330LeufsTer?]) | |
| 13 | g.32398747A= | CA2018046973 | BRCA2 | c.*757A= (n.*757A=) c.*1601A= (n.*1601A=) c.9865A= (p.Ile3289=) c.*1796A= (n.*1796A=) c.10183A= (p.Ile3395=) c.2650A= (p.Ile884=) n.2361A= c.10234A= (p.Ile3412=) c.10242A= (n.10242A=) c.10138A= (p.Ile3380=) | |
| 13 | g.32398747A>C | CA387768595 | BRCA2 | c.*757A>C (n.*757A>C) c.*1601A>C (n.*1601A>C) c.9865A>C (p.Ile3289Leu) c.*1796A>C (n.*1796A>C) c.10183A>C (p.Ile3395Leu) c.2650A>C (p.Ile884Leu) n.2361A>C c.10234A>C (p.Ile3412Leu) c.10242A>C (n.10242A>C) c.10138A>C (p.Ile3380Leu) | |
| 13 | g.32398747A>G | CA010536 | BRCA2 | c.*757A>G (n.*757A>G) c.*1601A>G (n.*1601A>G) c.9865A>G (p.Ile3289Val) c.*1796A>G (n.*1796A>G) c.10183A>G (p.Ile3395Val) c.2650A>G (p.Ile884Val) n.2361A>G c.10234A>G (p.Ile3412Val) c.10242A>G (n.10242A>G) c.10138A>G (p.Ile3380Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398747A>T | CA387768600 | BRCA2 | c.*757A>T (n.*757A>T) c.*1601A>T (n.*1601A>T) c.9865A>T (p.Ile3289Phe) c.*1796A>T (n.*1796A>T) c.10183A>T (p.Ile3395Phe) c.2650A>T (p.Ile884Phe) n.2361A>T c.10234A>T (p.Ile3412Phe) c.10242A>T (n.10242A>T) c.10138A>T (p.Ile3380Phe) | |
| 13 | g.32398748T>A | CA387768602 | BRCA2 | c.*758T>A (n.*758T>A) c.*1602T>A (n.*1602T>A) c.9866T>A (p.Ile3289Asn) c.*1797T>A (n.*1797T>A) c.10184T>A (p.Ile3395Asn) c.2651T>A (p.Ile884Asn) n.2362T>A c.10235T>A (p.Ile3412Asn) c.10243T>A (n.10243T>A) c.10139T>A (p.Ile3380Asn) | |
| 13 | g.32398748T>C | CA387768604 | BRCA2 | c.*758T>C (n.*758T>C) c.*1602T>C (n.*1602T>C) c.9866T>C (p.Ile3289Thr) c.*1797T>C (n.*1797T>C) c.10184T>C (p.Ile3395Thr) c.2651T>C (p.Ile884Thr) n.2362T>C c.10235T>C (p.Ile3412Thr) c.10243T>C (n.10243T>C) c.10139T>C (p.Ile3380Thr) | |
| 13 | g.32398748T>G | CA16606459 | BRCA2 | c.*758T>G (n.*758T>G) c.*1602T>G (n.*1602T>G) c.9866T>G (p.Ile3289Ser) c.*1797T>G (n.*1797T>G) c.10184T>G (p.Ile3395Ser) c.2651T>G (p.Ile884Ser) n.2362T>G c.10235T>G (p.Ile3412Ser) c.10243T>G (n.10243T>G) c.10139T>G (p.Ile3380Ser) | ClinVar dbSNP |
| 13 | g.32398748T= | CA2082838437 | BRCA2 | c.*758T= (n.*758T=) c.*1602T= (n.*1602T=) c.9866T= (p.Ile3289=) c.*1797T= (n.*1797T=) c.10184T= (p.Ile3395=) c.2651T= (p.Ile884=) n.2362T= c.10235T= (p.Ile3412=) c.10243T= (n.10243T=) c.10139T= (p.Ile3380=) | |
| 13 | g.32398749T>A | CA483440073 | BRCA2 | c.*759T>A (n.*759T>A) c.*1603T>A (n.*1603T>A) c.9867T>A (p.Ile3289=) c.*1798T>A (n.*1798T>A) c.10185T>A (p.Ile3395=) c.2652T>A (p.Ile884=) n.2363T>A c.10236T>A (p.Ile3412=) c.10244T>A (n.10244T>A) c.10140T>A (p.Ile3380=) | dbSNP |
| 13 | g.32398749T>C | CA483440072 | BRCA2 | c.*759T>C (n.*759T>C) c.*1603T>C (n.*1603T>C) c.9867T>C (p.Ile3289=) c.*1798T>C (n.*1798T>C) c.10185T>C (p.Ile3395=) c.2652T>C (p.Ile884=) n.2363T>C c.10236T>C (p.Ile3412=) c.10244T>C (n.10244T>C) c.10140T>C (p.Ile3380=) | ClinVar |
| 13 | g.32398749T>G | CA387768608 | BRCA2 | c.*759T>G (n.*759T>G) c.*1603T>G (n.*1603T>G) c.9867T>G (p.Ile3289Met) c.*1798T>G (n.*1798T>G) c.10185T>G (p.Ile3395Met) c.2652T>G (p.Ile884Met) n.2363T>G c.10236T>G (p.Ile3412Met) c.10244T>G (n.10244T>G) c.10140T>G (p.Ile3380Met) | |
| 13 | g.32398750A>C | CA387768610 | BRCA2 | c.*760A>C (n.*760A>C) c.*1604A>C (n.*1604A>C) c.9868A>C (p.Thr3290Pro) c.*1799A>C (n.*1799A>C) c.10186A>C (p.Thr3396Pro) c.2653A>C (p.Thr885Pro) n.2364A>C c.10237A>C (p.Thr3413Pro) c.10245A>C (n.10245A>C) c.10141A>C (p.Thr3381Pro) | dbSNP |
| 13 | g.32398750A>G | CA387768612 | BRCA2 | c.*760A>G (n.*760A>G) c.*1604A>G (n.*1604A>G) c.9868A>G (p.Thr3290Ala) c.*1799A>G (n.*1799A>G) c.10186A>G (p.Thr3396Ala) c.2653A>G (p.Thr885Ala) n.2364A>G c.10237A>G (p.Thr3413Ala) c.10245A>G (n.10245A>G) c.10141A>G (p.Thr3381Ala) | |
| 13 | g.32398750A>T | CA387768615 | BRCA2 | c.*760A>T (n.*760A>T) c.*1604A>T (n.*1604A>T) c.9868A>T (p.Thr3290Ser) c.*1799A>T (n.*1799A>T) c.10186A>T (p.Thr3396Ser) c.2653A>T (p.Thr885Ser) n.2364A>T c.10237A>T (p.Thr3413Ser) c.10245A>T (n.10245A>T) c.10141A>T (p.Thr3381Ser) | dbSNP |
| 13 | g.32398751C>A | CA387768618 | BRCA2 | c.*761C>A (n.*761C>A) c.*1605C>A (n.*1605C>A) c.9869C>A (p.Thr3290Lys) c.*1800C>A (n.*1800C>A) c.10187C>A (p.Thr3396Lys) c.2654C>A (p.Thr885Lys) n.2365C>A c.10238C>A (p.Thr3413Lys) c.10246C>A (n.10246C>A) c.10142C>A (p.Thr3381Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398751C= | CA2082838446 | BRCA2 | c.*761C= (n.*761C=) c.*1605C= (n.*1605C=) c.9869C= (p.Thr3290=) c.*1800C= (n.*1800C=) c.10187C= (p.Thr3396=) c.2654C= (p.Thr885=) n.2365C= c.10238C= (p.Thr3413=) c.10246C= (n.10246C=) c.10142C= (p.Thr3381=) | |
| 13 | g.32398751C>G | CA010546 | BRCA2 | c.*761C>G (n.*761C>G) c.*1605C>G (n.*1605C>G) c.9869C>G (p.Thr3290Arg) c.*1800C>G (n.*1800C>G) c.10187C>G (p.Thr3396Arg) c.2654C>G (p.Thr885Arg) n.2365C>G c.10238C>G (p.Thr3413Arg) c.10246C>G (n.10246C>G) c.10142C>G (p.Thr3381Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398751C>T | CA387768621 | BRCA2 | c.*761C>T (n.*761C>T) c.*1605C>T (n.*1605C>T) c.9869C>T (p.Thr3290Ile) c.*1800C>T (n.*1800C>T) c.10187C>T (p.Thr3396Ile) c.2654C>T (p.Thr885Ile) n.2365C>T c.10238C>T (p.Thr3413Ile) c.10246C>T (n.10246C>T) c.10142C>T (p.Thr3381Ile) | ClinVar dbSNP |
| 13 | g.32398752A>C | CA483440079 | BRCA2 | c.*762A>C (n.*762A>C) c.*1606A>C (n.*1606A>C) c.9870A>C (p.Thr3290=) c.*1801A>C (n.*1801A>C) c.10188A>C (p.Thr3396=) c.2655A>C (p.Thr885=) n.2366A>C c.10239A>C (p.Thr3413=) c.10247A>C (n.10247A>C) c.10143A>C (p.Thr3381=) | dbSNP |
| 13 | g.32398752A>G | CA483440078 | BRCA2 | c.*762A>G (n.*762A>G) c.*1606A>G (n.*1606A>G) c.9870A>G (p.Thr3290=) c.*1801A>G (n.*1801A>G) c.10188A>G (p.Thr3396=) c.2655A>G (p.Thr885=) n.2366A>G c.10239A>G (p.Thr3413=) c.10247A>G (n.10247A>G) c.10143A>G (p.Thr3381=) | |
| 13 | g.32398752A>T | CA483440077 | BRCA2 | c.*762A>T (n.*762A>T) c.*1606A>T (n.*1606A>T) c.9870A>T (p.Thr3290=) c.*1801A>T (n.*1801A>T) c.10188A>T (p.Thr3396=) c.2655A>T (p.Thr885=) n.2366A>T c.10239A>T (p.Thr3413=) c.10247A>T (n.10247A>T) c.10143A>T (p.Thr3381=) | dbSNP |
| 13 | g.32398753A= | CA2082838457 | BRCA2 | c.*763A= (n.*763A=) c.*1607A= (n.*1607A=) c.9871A= (p.Thr3291=) c.*1802A= (n.*1802A=) c.10189A= (p.Thr3397=) c.2656A= (p.Thr886=) n.2367A= c.10240A= (p.Thr3414=) c.10248A= (n.10248A=) c.10144A= (p.Thr3382=) | |
| 13 | g.32398753A>C | CA387768623 | BRCA2 | c.*763A>C (n.*763A>C) c.*1607A>C (n.*1607A>C) c.9871A>C (p.Thr3291Pro) c.*1802A>C (n.*1802A>C) c.10189A>C (p.Thr3397Pro) c.2656A>C (p.Thr886Pro) n.2367A>C c.10240A>C (p.Thr3414Pro) c.10248A>C (n.10248A>C) c.10144A>C (p.Thr3382Pro) | |
| 13 | g.32398753A>G | CA010554 | BRCA2 | c.*763A>G (n.*763A>G) c.*1607A>G (n.*1607A>G) c.9871A>G (p.Thr3291Ala) c.*1802A>G (n.*1802A>G) c.10189A>G (p.Thr3397Ala) c.2656A>G (p.Thr886Ala) n.2367A>G c.10240A>G (p.Thr3414Ala) c.10248A>G (n.10248A>G) c.10144A>G (p.Thr3382Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398753A>T | CA387768626 | BRCA2 | c.*763A>T (n.*763A>T) c.*1607A>T (n.*1607A>T) c.9871A>T (p.Thr3291Ser) c.*1802A>T (n.*1802A>T) c.10189A>T (p.Thr3397Ser) c.2656A>T (p.Thr886Ser) n.2367A>T c.10240A>T (p.Thr3414Ser) c.10248A>T (n.10248A>T) c.10144A>T (p.Thr3382Ser) | dbSNP gnomAD v4 |
| 13 | g.32398754C>A | CA387768628 | BRCA2 | c.*764C>A (n.*764C>A) c.*1608C>A (n.*1608C>A) c.9872C>A (p.Thr3291Asn) c.*1803C>A (n.*1803C>A) c.10190C>A (p.Thr3397Asn) c.2657C>A (p.Thr886Asn) n.2368C>A c.10241C>A (p.Thr3414Asn) c.10249C>A (n.10249C>A) c.10145C>A (p.Thr3382Asn) | |
| 13 | g.32398754C>G | CA387768630 | BRCA2 | c.*764C>G (n.*764C>G) c.*1608C>G (n.*1608C>G) c.9872C>G (p.Thr3291Ser) c.*1803C>G (n.*1803C>G) c.10190C>G (p.Thr3397Ser) c.2657C>G (p.Thr886Ser) n.2368C>G c.10241C>G (p.Thr3414Ser) c.10249C>G (n.10249C>G) c.10145C>G (p.Thr3382Ser) | |
| 13 | g.32398754C>T | CA387768632 | BRCA2 | c.*764C>T (n.*764C>T) c.*1608C>T (n.*1608C>T) c.9872C>T (p.Thr3291Ile) c.*1803C>T (n.*1803C>T) c.10190C>T (p.Thr3397Ile) c.2657C>T (p.Thr886Ile) n.2368C>T c.10241C>T (p.Thr3414Ile) c.10249C>T (n.10249C>T) c.10145C>T (p.Thr3382Ile) | dbSNP |
| 13 | g.32398755T>A | CA483440085 | BRCA2 | c.*765T>A (n.*765T>A) c.*1609T>A (n.*1609T>A) c.9873T>A (p.Thr3291=) c.*1804T>A (n.*1804T>A) c.10191T>A (p.Thr3397=) c.2658T>A (p.Thr886=) n.2369T>A c.10242T>A (p.Thr3414=) c.10250T>A (n.10250T>A) c.10146T>A (p.Thr3382=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32398755T>C | CA483440089 | BRCA2 | c.*765T>C (n.*765T>C) c.*1609T>C (n.*1609T>C) c.9873T>C (p.Thr3291=) c.*1804T>C (n.*1804T>C) c.10191T>C (p.Thr3397=) c.2658T>C (p.Thr886=) n.2369T>C c.10242T>C (p.Thr3414=) c.10250T>C (n.10250T>C) c.10146T>C (p.Thr3382=) | |
| 13 | g.32398755T>G | CA483440086 | BRCA2 | c.*765T>G (n.*765T>G) c.*1609T>G (n.*1609T>G) c.9873T>G (p.Thr3291=) c.*1804T>G (n.*1804T>G) c.10191T>G (p.Thr3397=) c.2658T>G (p.Thr886=) n.2369T>G c.10242T>G (p.Thr3414=) c.10250T>G (n.10250T>G) c.10146T>G (p.Thr3382=) | |
| 13 | g.32398755T= | CA2082838467 | BRCA2 | c.*765T= (n.*765T=) c.*1609T= (n.*1609T=) c.9873T= (p.Thr3291=) c.*1804T= (n.*1804T=) c.10191T= (p.Thr3397=) c.2658T= (p.Thr886=) n.2369T= c.10242T= (p.Thr3414=) c.10250T= (n.10250T=) c.10146T= (p.Thr3382=) | |
| 13 | g.32398755_32398756delinsTA | CA2082838473 | BRCA2 | c.*765_*766delinsTA (n.*765_*766delinsTA) c.*1609_*1610delinsTA (n.*1609_*1610delinsTA) c.9873_9874delinsTA (p.Thr3291=) c.*1804_*1805delinsTA (n.*1804_*1805delinsTA) c.10191_10192delinsTA (p.Thr3397=) c.2658_2659delinsTA (p.Thr886=) n.2369_2370delinsTA c.10242_10243delinsTA (p.Thr3414=) c.10250_10251delinsTA (n.10250_10251delinsTA) c.10146_10147delinsTA (p.Thr3382=) | |
| 13 | g.32398756A= | CA2082838480 | BRCA2 | c.*766A= (n.*766A=) c.*1610A= (n.*1610A=) c.9874A= (p.Lys3292=) c.*1805A= (n.*1805A=) c.10192A= (p.Lys3398=) c.2659A= (p.Lys887=) n.2370A= c.10243A= (p.Lys3415=) c.10251A= (n.10251A=) c.10147A= (p.Lys3383=) | |
| 13 | g.32398756A>C | CA387768640 | BRCA2 | c.*766A>C (n.*766A>C) c.*1610A>C (n.*1610A>C) c.9874A>C (p.Lys3292Gln) c.*1805A>C (n.*1805A>C) c.10192A>C (p.Lys3398Gln) c.2659A>C (p.Lys887Gln) n.2370A>C c.10243A>C (p.Lys3415Gln) c.10251A>C (n.10251A>C) c.10147A>C (p.Lys3383Gln) | dbSNP |
| 13 | g.32398756A>G | CA387768638 | BRCA2 | c.*766A>G (n.*766A>G) c.*1610A>G (n.*1610A>G) c.9874A>G (p.Lys3292Glu) c.*1805A>G (n.*1805A>G) c.10192A>G (p.Lys3398Glu) c.2659A>G (p.Lys887Glu) n.2370A>G c.10243A>G (p.Lys3415Glu) c.10251A>G (n.10251A>G) c.10147A>G (p.Lys3383Glu) | dbSNP |
| 13 | g.32398756A>T | CA387768636 | BRCA2 | c.*766A>T (n.*766A>T) c.*1610A>T (n.*1610A>T) c.9874A>T (p.Lys3292Ter) c.*1805A>T (n.*1805A>T) c.10192A>T (p.Lys3398Ter) c.2659A>T (p.Lys887Ter) n.2370A>T c.10243A>T (p.Lys3415Ter) c.10251A>T (n.10251A>T) c.10147A>T (p.Lys3383Ter) | dbSNP |
| 13 | g.32398761dup | CA6941482 | BRCA2 | c.*771dup (n.*771dup) c.*1615dup (n.*1615dup) c.9879dup (p.Tyr3294IlefsTer21) c.*1810dup (n.*1810dup) c.10197dup (p.Tyr3400IlefsTer21) c.2664dup (p.Tyr889IlefsTer?) n.2375dup c.10248dup (p.Tyr3417IlefsTer21) c.10256dup (n.10256dup) c.10152dup (p.Tyr3385IlefsTer21) | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32398761del | CA483440091 | BRCA2 | c.*771del (n.*771del) c.*1615del (n.*1615del) c.9879del (p.Lys3293AsnfsTer11) c.*1810del (n.*1810del) c.10197del (p.Lys3399AsnfsTer11) c.2664del (p.Lys888AsnfsTer?) n.2375del c.10248del (p.Lys3416AsnfsTer11) c.10256del (n.10256del) c.10152del (p.Lys3384AsnfsTer11) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32398757A>C | CA387768646 | BRCA2 | c.*767A>C (n.*767A>C) c.*1611A>C (n.*1611A>C) c.9875A>C (p.Lys3292Thr) c.*1806A>C (n.*1806A>C) c.10193A>C (p.Lys3398Thr) c.2660A>C (p.Lys887Thr) n.2371A>C c.10244A>C (p.Lys3415Thr) c.10252A>C (n.10252A>C) c.10148A>C (p.Lys3383Thr) | |
| 13 | g.32398757A>G | CA387768643 | BRCA2 | c.*767A>G (n.*767A>G) c.*1611A>G (n.*1611A>G) c.9875A>G (p.Lys3292Arg) c.*1806A>G (n.*1806A>G) c.10193A>G (p.Lys3398Arg) c.2660A>G (p.Lys887Arg) n.2371A>G c.10244A>G (p.Lys3415Arg) c.10252A>G (n.10252A>G) c.10148A>G (p.Lys3383Arg) | |
| 13 | g.32398757A>T | CA387768649 | BRCA2 | c.*767A>T (n.*767A>T) c.*1611A>T (n.*1611A>T) c.9875A>T (p.Lys3292Ile) c.*1806A>T (n.*1806A>T) c.10193A>T (p.Lys3398Ile) c.2660A>T (p.Lys887Ile) n.2371A>T c.10244A>T (p.Lys3415Ile) c.10252A>T (n.10252A>T) c.10148A>T (p.Lys3383Ile) | dbSNP |
| 13 | g.32398758A>C | CA387768651 | BRCA2 | c.*768A>C (n.*768A>C) c.*1612A>C (n.*1612A>C) c.9876A>C (p.Lys3292Asn) c.*1807A>C (n.*1807A>C) c.10194A>C (p.Lys3398Asn) c.2661A>C (p.Lys887Asn) n.2372A>C c.10245A>C (p.Lys3415Asn) c.10253A>C (n.10253A>C) c.10149A>C (p.Lys3383Asn) | |
| 13 | g.32398758A>G | CA483440098 | BRCA2 | c.*768A>G (n.*768A>G) c.*1612A>G (n.*1612A>G) c.9876A>G (p.Lys3292=) c.*1807A>G (n.*1807A>G) c.10194A>G (p.Lys3398=) c.2661A>G (p.Lys887=) n.2372A>G c.10245A>G (p.Lys3415=) c.10253A>G (n.10253A>G) c.10149A>G (p.Lys3383=) | ClinVar dbSNP |
| 13 | g.32398758A>T | CA387768653 | BRCA2 | c.*768A>T (n.*768A>T) c.*1612A>T (n.*1612A>T) c.9876A>T (p.Lys3292Asn) c.*1807A>T (n.*1807A>T) c.10194A>T (p.Lys3398Asn) c.2661A>T (p.Lys887Asn) n.2372A>T c.10245A>T (p.Lys3415Asn) c.10253A>T (n.10253A>T) c.10149A>T (p.Lys3383Asn) | dbSNP |
| 13 | g.32398759A= | CA2082838485 | BRCA2 | c.*769A= (n.*769A=) c.*1613A= (n.*1613A=) c.9877A= (p.Lys3293=) c.*1808A= (n.*1808A=) c.10195A= (p.Lys3399=) c.2662A= (p.Lys888=) n.2373A= c.10246A= (p.Lys3416=) c.10254A= (n.10254A=) c.10150A= (p.Lys3384=) |