| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32324894_32328983dup | CA2580086925 | BRCA2 | c.317-182_632-460dup c.-53-182_263-460dup c.*95+68_*411-460dup n.515-182_830-460dup n.317-182_632-460dup | ClinVar |
| 13 | g.32326101_32326613del | CA2581463424 | BRCA2 | c.426_631del c.57_262del n.297_502del c.*205_*410del n.624_829del n.426_631del | |
| 13 | g.32326471_32326622del | CA2695217875 | BRCA2 | c.517-28_631+9del c.148-28_262+9del n.388-28_511del c.*296-28_*410+9del n.715-28_829+9del n.517-28_631+9del | |
| 13 | g.32326497_32326614del | CA2499222047 | BRCA2 | c.517-2_631+1del c.148-2_262+1del n.388-2_503del c.*296-2_*410+1del n.715-2_829+1del n.517-2_631+1del | ClinVar dbSNP |
| 13 | g.32326499_32327075delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA | CA2082751656 | BRCA2 | c.517_631+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA c.148_262+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA c.*296_*410+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA n.715_829+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA n.517_631+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA | |
| 13 | g.32326500_32327075del | CA1139663062 | BRCA2 | c.518_631+462del c.149_262+462del c.*297_*410+462del n.716_829+462del n.518_631+462del | ClinVar dbSNP |
| 13 | g.32326500_32327075delinsAAAGAAATTTTATTTCTTT | CA2697551694 | BRCA2 | c.518_631+462delinsAAAGAAATTTTATTTCTTT c.149_262+462delinsAAAGAAATTTTATTTCTTT c.*297_*410+462delinsAAAGAAATTTTATTTCTTT n.716_829+462delinsAAAGAAATTTTATTTCTTT n.518_631+462delinsAAAGAAATTTTATTTCTTT | ClinVar |
| 13 | g.32326532C>A | CA387757891 | BRCA2 | c.550C>A (p.Leu184Ile) c.181C>A (p.Leu61Ile) n.421C>A c.*329C>A (n.*329C>A) n.748C>A n.550C>A | dbSNP |
| 13 | g.32326532C= | CA2082751941 | BRCA2 | c.550C= (p.Leu184=) c.181C= (p.Leu61=) n.421C= c.*329C= (n.*329C=) n.748C= n.550C= | |
| 13 | g.32326532C>G | CA6940398 | BRCA2 | c.550C>G (p.Leu184Val) c.181C>G (p.Leu61Val) n.421C>G c.*329C>G (n.*329C>G) n.748C>G n.550C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32326532C>T | CA483273843 | BRCA2 | c.550C>T (p.Leu184=) c.181C>T (p.Leu61=) n.421C>T c.*329C>T (n.*329C>T) n.748C>T n.550C>T | ClinVar dbSNP |
| 13 | g.32326533T>A | CA387757898 | BRCA2 | c.551T>A (p.Leu184Gln) c.182T>A (p.Leu61Gln) n.422T>A c.*330T>A (n.*330T>A) n.749T>A n.551T>A | dbSNP |
| 13 | g.32326533T>C | CA022493 | BRCA2 | c.551T>C (p.Leu184Pro) c.182T>C (p.Leu61Pro) n.422T>C c.*330T>C (n.*330T>C) n.749T>C n.551T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326533T>G | CA387757900 | BRCA2 | c.551T>G (p.Leu184Arg) c.182T>G (p.Leu61Arg) n.422T>G c.*330T>G (n.*330T>G) n.749T>G n.551T>G | gnomAD v4 |
| 13 | g.32326533T= | CA2082751956 | BRCA2 | c.551T= (p.Leu184=) c.182T= (p.Leu61=) n.422T= c.*330T= (n.*330T=) n.749T= n.551T= | |
| 13 | g.32326534A= | CA2082751969 | BRCA2 | c.552A= (p.Leu184=) c.183A= (p.Leu61=) n.423A= c.*331A= (n.*331A=) n.750A= n.552A= | |
| 13 | g.32326534A>C | CA483273849 | BRCA2 | c.552A>C (p.Leu184=) c.183A>C (p.Leu61=) n.423A>C c.*331A>C (n.*331A>C) n.750A>C n.552A>C | |
| 13 | g.32326534A>G | CA483273848 | BRCA2 | c.552A>G (p.Leu184=) c.183A>G (p.Leu61=) n.423A>G c.*331A>G (n.*331A>G) n.750A>G n.552A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32326534A>T | CA483273847 | BRCA2 | c.552A>T (p.Leu184=) c.183A>T (p.Leu61=) n.423A>T c.*331A>T (n.*331A>T) n.750A>T n.552A>T | dbSNP |
| 13 | g.32326535G>A | CA387757903 | BRCA2 | c.553G>A (p.Gly185Arg) c.184G>A (p.Gly62Arg) n.424G>A c.*332G>A (n.*332G>A) n.751G>A n.553G>A | ClinVar dbSNP |
| 13 | g.32326535G>C | CA387757905 | BRCA2 | c.553G>C (p.Gly185Arg) c.184G>C (p.Gly62Arg) n.424G>C c.*332G>C (n.*332G>C) n.751G>C n.553G>C | dbSNP |
| 13 | g.32326535G= | CA2082751976 | BRCA2 | c.553G= (p.Gly185=) c.184G= (p.Gly62=) n.424G= c.*332G= (n.*332G=) n.751G= n.553G= | |
| 13 | g.32326535G>T | CA387757906 | BRCA2 | c.553G>T (p.Gly185Ter) c.184G>T (p.Gly62Ter) n.424G>T c.*332G>T (n.*332G>T) n.751G>T n.553G>T | dbSNP |
| 13 | g.32326536del | CA2573149279 | BRCA2 | c.554del (p.Gly185GlufsTer14) c.185del (p.Gly62GlufsTer14) n.425del c.*333del (n.*333del) n.752del n.554del | ClinVar dbSNP |
| 13 | g.32326536G>A | CA387757914 | BRCA2 | c.554G>A (p.Gly185Glu) c.185G>A (p.Gly62Glu) n.425G>A c.*333G>A (n.*333G>A) n.752G>A n.554G>A | dbSNP |
| 13 | g.32326536G>C | CA387757910 | BRCA2 | c.554G>C (p.Gly185Ala) c.185G>C (p.Gly62Ala) n.425G>C c.*333G>C (n.*333G>C) n.752G>C n.554G>C | dbSNP |
| 13 | g.32326536G= | CA2082751983 | BRCA2 | c.554G= (p.Gly185=) c.185G= (p.Gly62=) n.425G= c.*333G= (n.*333G=) n.752G= n.554G= | |
| 13 | g.32326536G>T | CA022530 | BRCA2 | c.554G>T (p.Gly185Val) c.185G>T (p.Gly62Val) n.425G>T c.*333G>T (n.*333G>T) n.752G>T n.554G>T | ClinVar dbSNP |
| 13 | g.32326536_32326537delinsTT | CA2499222048 | BRCA2 | c.554_555delinsTT (p.Gly185Val) c.185_186delinsTT (p.Gly62Val) n.425_426delinsTT c.*333_*334delinsTT (n.*333_*334delinsTT) n.752_753delinsTT n.554_555delinsTT | ClinVar dbSNP |
| 13 | g.32326537A>C | CA483273851 | BRCA2 | c.555A>C (p.Gly185=) c.186A>C (p.Gly62=) n.426A>C c.*334A>C (n.*334A>C) n.753A>C n.555A>C | |
| 13 | g.32326537A>G | CA483273852 | BRCA2 | c.555A>G (p.Gly185=) c.186A>G (p.Gly62=) n.426A>G c.*334A>G (n.*334A>G) n.753A>G n.555A>G | ClinVar |
| 13 | g.32326537A>T | CA483273853 | BRCA2 | c.555A>T (p.Gly185=) c.186A>T (p.Gly62=) n.426A>T c.*334A>T (n.*334A>T) n.753A>T n.555A>T | ClinVar dbSNP |
| 13 | g.32326538G>A | CA387757916 | BRCA2 | c.556G>A (p.Ala186Thr) c.187G>A (p.Ala63Thr) n.427G>A c.*335G>A (n.*335G>A) n.754G>A n.556G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326538G>C | CA387757917 | BRCA2 | c.556G>C (p.Ala186Pro) c.187G>C (p.Ala63Pro) n.427G>C c.*335G>C (n.*335G>C) n.754G>C n.556G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326538G= | CA2082752003 | BRCA2 | c.556G= (p.Ala186=) c.187G= (p.Ala63=) n.427G= c.*335G= (n.*335G=) n.754G= n.556G= | |
| 13 | g.32326538G>T | CA387757918 | BRCA2 | c.556G>T (p.Ala186Ser) c.187G>T (p.Ala63Ser) n.427G>T c.*335G>T (n.*335G>T) n.754G>T n.556G>T | ClinVar dbSNP |
| 13 | g.32326539C>A | CA387757919 | BRCA2 | c.557C>A (p.Ala186Asp) c.188C>A (p.Ala63Asp) n.428C>A c.*336C>A (n.*336C>A) n.755C>A n.557C>A | dbSNP |
| 13 | g.32326539C>G | CA387757920 | BRCA2 | c.557C>G (p.Ala186Gly) c.188C>G (p.Ala63Gly) n.428C>G c.*336C>G (n.*336C>G) n.755C>G n.557C>G | dbSNP |
| 13 | g.32326539C>T | CA387757921 | BRCA2 | c.557C>T (p.Ala186Val) c.188C>T (p.Ala63Val) n.428C>T c.*336C>T (n.*336C>T) n.755C>T n.557C>T | dbSNP |
| 13 | g.32326540T>A | CA483273854 | BRCA2 | c.558T>A (p.Ala186=) c.189T>A (p.Ala63=) n.429T>A c.*337T>A (n.*337T>A) n.756T>A n.558T>A | ClinVar dbSNP |
| 13 | g.32326540T>C | CA483273855 | BRCA2 | c.558T>C (p.Ala186=) c.189T>C (p.Ala63=) n.429T>C c.*337T>C (n.*337T>C) n.756T>C n.558T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32326540T>G | CA483273856 | BRCA2 | c.558T>G (p.Ala186=) c.189T>G (p.Ala63=) n.429T>G c.*337T>G (n.*337T>G) n.756T>G n.558T>G | gnomAD v4 |
| 13 | g.32326540T= | CA2082752015 | BRCA2 | c.558T= (p.Ala186=) c.189T= (p.Ala63=) n.429T= c.*337T= (n.*337T=) n.756T= n.558T= | |
| 13 | g.32326541G>A | CA022679 | BRCA2 | c.559G>A (p.Glu187Lys) c.190G>A (p.Glu64Lys) n.430G>A c.*338G>A (n.*338G>A) n.757G>A n.559G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.32326541G>C | CA387757924 | BRCA2 | c.559G>C (p.Glu187Gln) c.190G>C (p.Glu64Gln) n.430G>C c.*338G>C (n.*338G>C) n.757G>C n.559G>C | dbSNP |
| 13 | g.32326541G= | CA2082752025 | BRCA2 | c.559G= (p.Glu187=) c.190G= (p.Glu64=) n.430G= c.*338G= (n.*338G=) n.757G= n.559G= | |
| 13 | g.32326541G>T | CA387757926 | BRCA2 | c.559G>T (p.Glu187Ter) c.190G>T (p.Glu64Ter) n.430G>T c.*338G>T (n.*338G>T) n.757G>T n.559G>T | COSMIC COSMIC |
| 13 | g.32326542A= | CA2082752033 | BRCA2 | c.560A= (p.Glu187=) c.191A= (p.Glu64=) n.431A= c.*339A= (n.*339A=) n.758A= n.560A= | |
| 13 | g.32326542A>C | CA387757927 | BRCA2 | c.560A>C (p.Glu187Ala) c.191A>C (p.Glu64Ala) n.431A>C c.*339A>C (n.*339A>C) n.758A>C n.560A>C | |
| 13 | g.32326542A>G | CA387757928 | BRCA2 | c.560A>G (p.Glu187Gly) c.191A>G (p.Glu64Gly) n.431A>G c.*339A>G (n.*339A>G) n.758A>G n.560A>G | dbSNP |