Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32350726_32358449del | CA2843744634 | BRCA2 | c.7007+3830_7805+520del c.6638+3830_7436+520del n.7007+3830_7805+520del c.6911+3830_7709+520del | |
13 | g.32357226_32357777del | CA2580087492 | BRCA2 | c.7618-516_7653del c.7249-516_7284del c.85-516_120del c.183-516_218del n.7618-516_7653del c.7522-516_7557del | ClinVar |
13 | g.32357740A= | CA2082817454 | BRCA2 | c.7618-2A= (n.7618-2A=) c.7249-2A= (n.7249-2A=) c.85-2A= (n.85-2A=) c.183-2A= n.7618-2A= c.7522-2A= (n.7522-2A=) | |
13 | g.32357740A>C | CA387744745 | BRCA2 | c.7618-2A>C (n.7618-2A>C) c.7249-2A>C (n.7249-2A>C) c.85-2A>C (n.85-2A>C) c.183-2A>C n.7618-2A>C c.7522-2A>C (n.7522-2A>C) | |
13 | g.32357740A>G | CA10602540 | BRCA2 | c.7618-2A>G (n.7618-2A>G) c.7249-2A>G (n.7249-2A>G) c.85-2A>G (n.85-2A>G) c.183-2A>G n.7618-2A>G c.7522-2A>G (n.7522-2A>G) | ClinVar dbSNP |
13 | g.32357740A>T | CA387744748 | BRCA2 | c.7618-2A>T (n.7618-2A>T) c.7249-2A>T (n.7249-2A>T) c.85-2A>T (n.85-2A>T) c.183-2A>T n.7618-2A>T c.7522-2A>T (n.7522-2A>T) | ClinVar dbSNP |
13 | g.32357740_32357767delinsGTGTTATTTTGTTTTATT | CA2580087327 | BRCA2 | c.7618-2_7643delinsGTGTTATTTTGTTTTATT c.7249-2_7274delinsGTGTTATTTTGTTTTATT c.85-2_110delinsGTGTTATTTTGTTTTATT c.183-2_208delinsGTGTTATTTTGTTTTATT n.7618-2_7643delinsGTGTTATTTTGTTTTATT c.7522-2_7547delinsGTGTTATTTTGTTTTATT | ClinVar |
13 | g.32357741G>A | CA025188 | BRCA2 | c.7618-1G>A (n.7618-1G>A) c.7249-1G>A (n.7249-1G>A) c.85-1G>A (n.85-1G>A) c.183-1G>A n.7618-1G>A c.7522-1G>A (n.7522-1G>A) | ClinVar dbSNP |
13 | g.32357741G>C | CA025189 | BRCA2 | c.7618-1G>C (n.7618-1G>C) c.7249-1G>C (n.7249-1G>C) c.85-1G>C (n.85-1G>C) c.183-1G>C n.7618-1G>C c.7522-1G>C (n.7522-1G>C) | ClinVar dbSNP |
13 | g.32357741G= | CA2082817464 | BRCA2 | c.7618-1G= (n.7618-1G=) c.7249-1G= (n.7249-1G=) c.85-1G= (n.85-1G=) c.183-1G= n.7618-1G= c.7522-1G= (n.7522-1G=) | |
13 | g.32357741G>T | CA387744750 | BRCA2 | c.7618-1G>T (n.7618-1G>T) c.7249-1G>T (n.7249-1G>T) c.85-1G>T (n.85-1G>T) c.183-1G>T n.7618-1G>T c.7522-1G>T (n.7522-1G>T) | dbSNP |
13 | g.32357742C>A | CA025194 | BRCA2 | c.7618C>A (p.Leu2540Met) c.7249C>A (p.Leu2417Met) c.85C>A (p.Leu29Met) c.183C>A n.7618C>A c.7522C>A (p.Leu2508Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357742C= | CA2082817475 | BRCA2 | c.7618C= (p.Leu2540=) c.7249C= (p.Leu2417=) c.85C= (p.Leu29=) c.183C= n.7618C= c.7522C= (p.Leu2508=) | |
13 | g.32357742C>G | CA387744754 | BRCA2 | c.7618C>G (p.Leu2540Val) c.7249C>G (p.Leu2417Val) c.85C>G (p.Leu29Val) c.183C>G n.7618C>G c.7522C>G (p.Leu2508Val) | dbSNP |
13 | g.32357742C>T | CA483439128 | BRCA2 | c.7618C>T (p.Leu2540=) c.7249C>T (p.Leu2417=) c.85C>T (p.Leu29=) c.183C>T n.7618C>T c.7522C>T (p.Leu2508=) | dbSNP |
13 | g.32357743T>A | CA387744757 | BRCA2 | c.7619T>A (p.Leu2540Gln) c.7250T>A (p.Leu2417Gln) c.86T>A (p.Leu29Gln) c.184T>A n.7619T>A c.7523T>A (p.Leu2508Gln) | |
13 | g.32357743T>C | CA387744759 | BRCA2 | c.7619T>C (p.Leu2540Pro) c.7250T>C (p.Leu2417Pro) c.86T>C (p.Leu29Pro) c.184T>C n.7619T>C c.7523T>C (p.Leu2508Pro) | ClinVar dbSNP |
13 | g.32357743T>G | CA387744760 | BRCA2 | c.7619T>G (p.Leu2540Arg) c.7250T>G (p.Leu2417Arg) c.86T>G (p.Leu29Arg) c.184T>G n.7619T>G c.7523T>G (p.Leu2508Arg) | |
13 | g.32357744G>A | CA6941123 | BRCA2 | c.7620G>A (p.Leu2540=) c.7251G>A (p.Leu2417=) c.87G>A (p.Leu29=) c.185G>A n.7620G>A c.7524G>A (p.Leu2508=) | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.32357744G>C | CA483439129 | BRCA2 | c.7620G>C (p.Leu2540=) c.7251G>C (p.Leu2417=) c.87G>C (p.Leu29=) c.185G>C n.7620G>C c.7524G>C (p.Leu2508=) | dbSNP |
13 | g.32357744G= | CA2082817484 | BRCA2 | c.7620G= (p.Leu2540=) c.7251G= (p.Leu2417=) c.87G= (p.Leu29=) c.185G= n.7620G= c.7524G= (p.Leu2508=) | |
13 | g.32357744G>T | CA483439130 | BRCA2 | c.7620G>T (p.Leu2540=) c.7251G>T (p.Leu2417=) c.87G>T (p.Leu29=) c.185G>T n.7620G>T c.7524G>T (p.Leu2508=) | |
13 | g.32357745T>A | CA387744763 | BRCA2 | c.7621T>A (p.Tyr2541Asn) c.7252T>A (p.Tyr2418Asn) c.88T>A (p.Tyr30Asn) c.186T>A n.7621T>A c.7525T>A (p.Tyr2509Asn) | dbSNP |
13 | g.32357745T>C | CA387744765 | BRCA2 | c.7621T>C (p.Tyr2541His) c.7252T>C (p.Tyr2418His) c.88T>C (p.Tyr30His) c.186T>C n.7621T>C c.7525T>C (p.Tyr2509His) | |
13 | g.32357745T>G | CA387744764 | BRCA2 | c.7621T>G (p.Tyr2541Asp) c.7252T>G (p.Tyr2418Asp) c.88T>G (p.Tyr30Asp) c.186T>G n.7621T>G c.7525T>G (p.Tyr2509Asp) | dbSNP |
13 | g.32357746_32357753dup | CA2499222301 | BRCA2 | c.7622_7629dup (p.Gly2544IlefsTer10) c.7253_7260dup (p.Gly2421IlefsTer10) c.89_96dup (p.Gly33IlefsTer10) c.187_194dup n.7622_7629dup c.7526_7533dup (p.Gly2512IlefsTer10) | ClinVar dbSNP |
13 | g.32357746A= | CA2082817492 | BRCA2 | c.7622A= (p.Tyr2541=) c.7253A= (p.Tyr2418=) c.89A= (p.Tyr30=) c.187A= n.7622A= c.7526A= (p.Tyr2509=) | |
13 | g.32357746A>C | CA387744767 | BRCA2 | c.7622A>C (p.Tyr2541Ser) c.7253A>C (p.Tyr2418Ser) c.89A>C (p.Tyr30Ser) c.187A>C n.7622A>C c.7526A>C (p.Tyr2509Ser) | |
13 | g.32357746A>G | CA387744768 | BRCA2 | c.7622A>G (p.Tyr2541Cys) c.7253A>G (p.Tyr2418Cys) c.89A>G (p.Tyr30Cys) c.187A>G n.7622A>G c.7526A>G (p.Tyr2509Cys) | ClinVar dbSNP |
13 | g.32357746A>T | CA387744769 | BRCA2 | c.7622A>T (p.Tyr2541Phe) c.7253A>T (p.Tyr2418Phe) c.89A>T (p.Tyr30Phe) c.187A>T n.7622A>T c.7526A>T (p.Tyr2509Phe) | dbSNP |
13 | g.32357747T>A | CA387744770 | BRCA2 | c.7623T>A (p.Tyr2541Ter) c.7254T>A (p.Tyr2418Ter) c.90T>A (p.Tyr30Ter) c.188T>A n.7623T>A c.7527T>A (p.Tyr2509Ter) | |
13 | g.32357747T>C | CA483439132 | BRCA2 | c.7623T>C (p.Tyr2541=) c.7254T>C (p.Tyr2418=) c.90T>C (p.Tyr30=) c.188T>C n.7623T>C c.7527T>C (p.Tyr2509=) | |
13 | g.32357747T>G | CA387744771 | BRCA2 | c.7623T>G (p.Tyr2541Ter) c.7254T>G (p.Tyr2418Ter) c.90T>G (p.Tyr30Ter) c.188T>G n.7623T>G c.7527T>G (p.Tyr2509Ter) | ClinVar dbSNP |
13 | g.32357747T= | CA2082817500 | BRCA2 | c.7623T= (p.Tyr2541=) c.7254T= (p.Tyr2418=) c.90T= (p.Tyr30=) c.188T= n.7623T= c.7527T= (p.Tyr2509=) | |
13 | g.32357748A>C | CA387744773 | BRCA2 | c.7624A>C (p.Thr2542Pro) c.7255A>C (p.Thr2419Pro) c.91A>C (p.Thr31Pro) c.189A>C n.7624A>C c.7528A>C (p.Thr2510Pro) | |
13 | g.32357748A>G | CA387744775 | BRCA2 | c.7624A>G (p.Thr2542Ala) c.7255A>G (p.Thr2419Ala) c.91A>G (p.Thr31Ala) c.189A>G n.7624A>G c.7528A>G (p.Thr2510Ala) | |
13 | g.32357748A>T | CA387744777 | BRCA2 | c.7624A>T (p.Thr2542Ser) c.7255A>T (p.Thr2419Ser) c.91A>T (p.Thr31Ser) c.189A>T n.7624A>T c.7528A>T (p.Thr2510Ser) | dbSNP |
13 | g.32357748dup | CA10589441 | BRCA2 | c.7624dup (p.Thr2542AsnfsTer6) c.7255dup (p.Thr2419AsnfsTer6) c.91dup (p.Thr31AsnfsTer6) c.189dup n.7624dup c.7528dup (p.Thr2510AsnfsTer6) | ClinVar dbSNP |
13 | g.32357748_32357749dup | CA919242787 | BRCA2 | c.7624_7625dup (p.Tyr2543ArgfsTer9) c.7255_7256dup (p.Tyr2420ArgfsTer9) c.91_92dup (p.Tyr32ArgfsTer9) c.189_190dup n.7624_7625dup c.7528_7529dup (p.Tyr2511ArgfsTer9) | dbSNP |
13 | g.32357749C>A | CA6941124 | BRCA2 | c.7625C>A (p.Thr2542Lys) c.7256C>A (p.Thr2419Lys) c.92C>A (p.Thr31Lys) c.190C>A n.7625C>A c.7529C>A (p.Thr2510Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357749C= | CA2082817518 | BRCA2 | c.7625C= (p.Thr2542=) c.7256C= (p.Thr2419=) c.92C= (p.Thr31=) c.190C= n.7625C= c.7529C= (p.Thr2510=) | |
13 | g.32357749C>G | CA025195 | BRCA2 | c.7625C>G (p.Thr2542Arg) c.7256C>G (p.Thr2419Arg) c.92C>G (p.Thr31Arg) c.190C>G n.7625C>G c.7529C>G (p.Thr2510Arg) | ClinVar dbSNP |
13 | g.32357749C>T | CA025196 | BRCA2 | c.7625C>T (p.Thr2542Met) c.7256C>T (p.Thr2419Met) c.92C>T (p.Thr31Met) c.190C>T n.7625C>T c.7529C>T (p.Thr2510Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32357749_32357761delinsCGTATGGCGTTTC | CA2082817526 | BRCA2 | c.7625_7637delinsCGTATGGCGTTTC (p.Thr2542=) c.7256_7268delinsCGTATGGCGTTTC (p.Thr2419=) c.92_104delinsCGTATGGCGTTTC (p.Thr31=) c.190_202delinsCGTATGGCGTTTC n.7625_7637delinsCGTATGGCGTTTC c.7529_7541delinsCGTATGGCGTTTC (p.Thr2510=) | |
13 | g.32357750del | CA2838032556 | BRCA2 | c.7626del (p.Tyr2543MetfsTer8) c.7257del (p.Tyr2420MetfsTer8) c.93del (p.Tyr32MetfsTer8) c.191del n.7626del c.7530del (p.Tyr2511MetfsTer8) | |
13 | g.32357750G>A | CA025197 | BRCA2 | c.7626G>A (p.Thr2542=) c.7257G>A (p.Thr2419=) c.93G>A (p.Thr31=) c.191G>A n.7626G>A c.7530G>A (p.Thr2510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357750G>C | CA483439133 | BRCA2 | c.7626G>C (p.Thr2542=) c.7257G>C (p.Thr2419=) c.93G>C (p.Thr31=) c.191G>C n.7626G>C c.7530G>C (p.Thr2510=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357750G= | CA2082817540 | BRCA2 | c.7626G= (p.Thr2542=) c.7257G= (p.Thr2419=) c.93G= (p.Thr31=) c.191G= n.7626G= c.7530G= (p.Thr2510=) | |
13 | g.32357750G>T | CA483439134 | BRCA2 | c.7626G>T (p.Thr2542=) c.7257G>T (p.Thr2419=) c.93G>T (p.Thr31=) c.191G>T n.7626G>T c.7530G>T (p.Thr2510=) | ClinVar dbSNP |
13 | g.32357750_32357752delinsGTA | CA2082817538 | BRCA2 | c.7626_7628delinsGTA (p.Thr2542=) c.7257_7259delinsGTA (p.Thr2419=) c.93_95delinsGTA (p.Thr31=) c.191_193delinsGTA n.7626_7628delinsGTA c.7530_7532delinsGTA (p.Thr2510=) | |
13 | g.32357750_32357761delinsT | CA658656451 | BRCA2 | c.7626_7637delinsT (p.Tyr2543Ter) c.7257_7268delinsT (p.Tyr2420Ter) c.93_104delinsT (p.Tyr32Ter) c.191_202delinsT n.7626_7637delinsT c.7530_7541delinsT (p.Tyr2511Ter) | ClinVar dbSNP |
13 | g.32357751T>A | CA387744785 | BRCA2 | c.7627T>A (p.Tyr2543Asn) c.7258T>A (p.Tyr2420Asn) c.94T>A (p.Tyr32Asn) c.192T>A n.7627T>A c.7531T>A (p.Tyr2511Asn) | dbSNP |
13 | g.32357751T>C | CA387744784 | BRCA2 | c.7627T>C (p.Tyr2543His) c.7258T>C (p.Tyr2420His) c.94T>C (p.Tyr32His) c.192T>C n.7627T>C c.7531T>C (p.Tyr2511His) | |
13 | g.32357751T>G | CA387744782 | BRCA2 | c.7627T>G (p.Tyr2543Asp) c.7258T>G (p.Tyr2420Asp) c.94T>G (p.Tyr32Asp) c.192T>G n.7627T>G c.7531T>G (p.Tyr2511Asp) | |
13 | g.32357751dup | CA025198 | BRCA2 | c.7627dup (p.Tyr2543LeufsTer5) c.7258dup (p.Tyr2420LeufsTer5) c.94dup (p.Tyr32LeufsTer5) c.192dup n.7627dup c.7531dup (p.Tyr2511LeufsTer5) | ClinVar dbSNP |
13 | g.32357752_32357753del | CA913190909 | BRCA2 | c.7628_7629del (p.Tyr2543TrpfsTer4) c.7259_7260del (p.Tyr2420TrpfsTer4) c.95_96del (p.Tyr32TrpfsTer4) c.193_194del n.7628_7629del c.7532_7533del (p.Tyr2511TrpfsTer4) | ClinVar dbSNP |
13 | g.32357752A= | CA2082817556 | BRCA2 | c.7628A= (p.Tyr2543=) c.7259A= (p.Tyr2420=) c.95A= (p.Tyr32=) c.193A= n.7628A= c.7532A= (p.Tyr2511=) | |
13 | g.32357752A>C | CA387744788 | BRCA2 | c.7628A>C (p.Tyr2543Ser) c.7259A>C (p.Tyr2420Ser) c.95A>C (p.Tyr32Ser) c.193A>C n.7628A>C c.7532A>C (p.Tyr2511Ser) | |
13 | g.32357752A>G | CA025199 | BRCA2 | c.7628A>G (p.Tyr2543Cys) c.7259A>G (p.Tyr2420Cys) c.95A>G (p.Tyr32Cys) c.193A>G n.7628A>G c.7532A>G (p.Tyr2511Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357752A>T | CA387744790 | BRCA2 | c.7628A>T (p.Tyr2543Phe) c.7259A>T (p.Tyr2420Phe) c.95A>T (p.Tyr32Phe) c.193A>T n.7628A>T c.7532A>T (p.Tyr2511Phe) | dbSNP |
13 | g.32357753T>A | CA16619766 | BRCA2 | c.7629T>A (p.Tyr2543Ter) c.7260T>A (p.Tyr2420Ter) c.96T>A (p.Tyr32Ter) c.194T>A n.7629T>A c.7533T>A (p.Tyr2511Ter) | ClinVar dbSNP |
13 | g.32357753T>C | CA483439136 | BRCA2 | c.7629T>C (p.Tyr2543=) c.7260T>C (p.Tyr2420=) c.96T>C (p.Tyr32=) c.194T>C n.7629T>C c.7533T>C (p.Tyr2511=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357753T>G | CA387744792 | BRCA2 | c.7629T>G (p.Tyr2543Ter) c.7260T>G (p.Tyr2420Ter) c.96T>G (p.Tyr32Ter) c.194T>G n.7629T>G c.7533T>G (p.Tyr2511Ter) | |
13 | g.32357753T= | CA2082817570 | BRCA2 | c.7629T= (p.Tyr2543=) c.7260T= (p.Tyr2420=) c.96T= (p.Tyr32=) c.194T= n.7629T= c.7533T= (p.Tyr2511=) | |
13 | g.32357753_32357754delinsTG | CA2082817569 | BRCA2 | c.7629_7630delinsTG (p.Tyr2543=) c.7260_7261delinsTG (p.Tyr2420=) c.96_97delinsTG (p.Tyr32=) c.194_195delinsTG n.7629_7630delinsTG c.7533_7534delinsTG (p.Tyr2511=) | |
13 | g.32357754G>A | CA025200 | BRCA2 | c.7630G>A (p.Gly2544Ser) c.7261G>A (p.Gly2421Ser) c.97G>A (p.Gly33Ser) c.195G>A n.7630G>A c.7534G>A (p.Gly2512Ser) | ClinVar dbSNP |
13 | g.32357754G>C | CA10583133 | BRCA2 | c.7630G>C (p.Gly2544Arg) c.7261G>C (p.Gly2421Arg) c.97G>C (p.Gly33Arg) c.195G>C n.7630G>C c.7534G>C (p.Gly2512Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32357754G= | CA2082817582 | BRCA2 | c.7630G= (p.Gly2544=) c.7261G= (p.Gly2421=) c.97G= (p.Gly33=) c.195G= n.7630G= c.7534G= (p.Gly2512=) | |
13 | g.32357754G>T | CA387744796 | BRCA2 | c.7630G>T (p.Gly2544Cys) c.7261G>T (p.Gly2421Cys) c.97G>T (p.Gly33Cys) c.195G>T n.7630G>T c.7534G>T (p.Gly2512Cys) | dbSNP |
13 | g.32357755del | CA10589442 | BRCA2 | c.7631del (p.Gly2544AlafsTer7) c.7262del (p.Gly2421AlafsTer7) c.98del (p.Gly33AlafsTer7) c.196del n.7631del c.7535del (p.Gly2512AlafsTer7) | ClinVar dbSNP |
13 | g.32357755G>A | CA025201 | BRCA2 | c.7631G>A (p.Gly2544Asp) c.7262G>A (p.Gly2421Asp) c.98G>A (p.Gly33Asp) c.196G>A n.7631G>A c.7535G>A (p.Gly2512Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357755G>C | CA387744803 | BRCA2 | c.7631G>C (p.Gly2544Ala) c.7262G>C (p.Gly2421Ala) c.98G>C (p.Gly33Ala) c.196G>C n.7631G>C c.7535G>C (p.Gly2512Ala) | dbSNP |
13 | g.32357755G= | CA2082817595 | BRCA2 | c.7631G= (p.Gly2544=) c.7262G= (p.Gly2421=) c.98G= (p.Gly33=) c.196G= n.7631G= c.7535G= (p.Gly2512=) | |
13 | g.32357755G>T | CA387744805 | BRCA2 | c.7631G>T (p.Gly2544Val) c.7262G>T (p.Gly2421Val) c.98G>T (p.Gly33Val) c.196G>T n.7631G>T c.7535G>T (p.Gly2512Val) | dbSNP |
13 | g.32357756_32357757del | CA2499222302 | BRCA2 | c.7632_7633del (p.Val2545PhefsTer2) c.7263_7264del (p.Val2422PhefsTer2) c.99_100del (p.Val34PhefsTer2) c.197_198del n.7632_7633del c.7536_7537del (p.Val2513PhefsTer2) | ClinVar dbSNP |
13 | g.32357756del | CA2580614683 | BRCA2 | c.7632del (p.Val2545PhefsTer6) c.7263del (p.Val2422PhefsTer6) c.99del (p.Val34PhefsTer6) c.197del n.7632del c.7536del (p.Val2513PhefsTer6) | ClinVar |
13 | g.32357756C>A | CA483439137 | BRCA2 | c.7632C>A (p.Gly2544=) c.7263C>A (p.Gly2421=) c.99C>A (p.Gly33=) c.197C>A n.7632C>A c.7536C>A (p.Gly2512=) | dbSNP |
13 | g.32357756C= | CA2082817606 | BRCA2 | c.7632C= (p.Gly2544=) c.7263C= (p.Gly2421=) c.99C= (p.Gly33=) c.197C= n.7632C= c.7536C= (p.Gly2512=) | |
13 | g.32357756C>G | CA483439139 | BRCA2 | c.7632C>G (p.Gly2544=) c.7263C>G (p.Gly2421=) c.99C>G (p.Gly33=) c.197C>G n.7632C>G c.7536C>G (p.Gly2512=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357756C>T | CA6941125 | BRCA2 | c.7632C>T (p.Gly2544=) c.7263C>T (p.Gly2421=) c.99C>T (p.Gly33=) c.197C>T n.7632C>T c.7536C>T (p.Gly2512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357757G>A | CA025202 | BRCA2 | c.7633G>A (p.Val2545Ile) c.7264G>A (p.Val2422Ile) c.100G>A (p.Val34Ile) c.198G>A n.7633G>A c.7537G>A (p.Val2513Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32357757G>C | CA387744811 | BRCA2 | c.7633G>C (p.Val2545Leu) c.7264G>C (p.Val2422Leu) c.100G>C (p.Val34Leu) c.198G>C n.7633G>C c.7537G>C (p.Val2513Leu) | dbSNP |
13 | g.32357757G= | CA2082817621 | BRCA2 | c.7633G= (p.Val2545=) c.7264G= (p.Val2422=) c.100G= (p.Val34=) c.198G= n.7633G= c.7537G= (p.Val2513=) | |
13 | g.32357757G>T | CA387744809 | BRCA2 | c.7633G>T (p.Val2545Phe) c.7264G>T (p.Val2422Phe) c.100G>T (p.Val34Phe) c.198G>T n.7633G>T c.7537G>T (p.Val2513Phe) | |
13 | g.32357757_32357767delinsGTTTCTAAACA | CA2082817628 | BRCA2 | c.7633_7643delinsGTTTCTAAACA (p.Val2545=) c.7264_7274delinsGTTTCTAAACA (p.Val2422=) c.100_110delinsGTTTCTAAACA (p.Val34=) c.198_208delinsGTTTCTAAACA n.7633_7643delinsGTTTCTAAACA c.7537_7547delinsGTTTCTAAACA (p.Val2513=) | |
13 | g.32357758T>A | CA387744815 | BRCA2 | c.7634T>A (p.Val2545Asp) c.7265T>A (p.Val2422Asp) c.101T>A (p.Val34Asp) c.199T>A n.7634T>A c.7538T>A (p.Val2513Asp) | |
13 | g.32357758T>C | CA387744817 | BRCA2 | c.7634T>C (p.Val2545Ala) c.7265T>C (p.Val2422Ala) c.101T>C (p.Val34Ala) c.199T>C n.7634T>C c.7538T>C (p.Val2513Ala) | |
13 | g.32357758T>G | CA387744819 | BRCA2 | c.7634T>G (p.Val2545Gly) c.7265T>G (p.Val2422Gly) c.101T>G (p.Val34Gly) c.199T>G n.7634T>G c.7538T>G (p.Val2513Gly) | |
13 | g.32357760dup | CA2697551786 | BRCA2 | c.7636dup (p.Ser2546PhefsTer2) c.7267dup (p.Ser2423PhefsTer2) c.103dup (p.Ser35PhefsTer2) c.201dup n.7636dup c.7540dup (p.Ser2514PhefsTer2) | ClinVar |
13 | g.32357760del | CA2843744635 | BRCA2 | c.7636del (p.Ser2546LeufsTer5) c.7267del (p.Ser2423LeufsTer5) c.103del (p.Ser35LeufsTer5) c.201del n.7636del c.7540del (p.Ser2514LeufsTer5) | |
13 | g.32357760_32357769del | CA025203 | BRCA2 | c.7636_7645del (p.Ser2546AlafsTer2) c.7267_7276del (p.Ser2423AlafsTer2) c.103_112del (p.Ser35AlafsTer2) c.201_210del n.7636_7645del c.7540_7549del (p.Ser2514AlafsTer2) | ClinVar dbSNP |
13 | g.32357759T>A | CA6941126 | BRCA2 | c.7635T>A (p.Val2545=) c.7266T>A (p.Val2422=) c.102T>A (p.Val34=) c.200T>A n.7635T>A c.7539T>A (p.Val2513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357759T>C | CA483439142 | BRCA2 | c.7635T>C (p.Val2545=) c.7266T>C (p.Val2422=) c.102T>C (p.Val34=) c.200T>C n.7635T>C c.7539T>C (p.Val2513=) | dbSNP |
13 | g.32357759T>G | CA483439143 | BRCA2 | c.7635T>G (p.Val2545=) c.7266T>G (p.Val2422=) c.102T>G (p.Val34=) c.200T>G n.7635T>G c.7539T>G (p.Val2513=) | dbSNP |
13 | g.32357759T= | CA2082817645 | BRCA2 | c.7635T= (p.Val2545=) c.7266T= (p.Val2422=) c.102T= (p.Val34=) c.200T= n.7635T= c.7539T= (p.Val2513=) | |
13 | g.32357760T>A | CA387744823 | BRCA2 | c.7636T>A (p.Ser2546Thr) c.7267T>A (p.Ser2423Thr) c.103T>A (p.Ser35Thr) c.201T>A n.7636T>A c.7540T>A (p.Ser2514Thr) | |
13 | g.32357760T>C | CA387744825 | BRCA2 | c.7636T>C (p.Ser2546Pro) c.7267T>C (p.Ser2423Pro) c.103T>C (p.Ser35Pro) c.201T>C n.7636T>C c.7540T>C (p.Ser2514Pro) | ClinVar dbSNP |
13 | g.32357760T>G | CA387744829 | BRCA2 | c.7636T>G (p.Ser2546Ala) c.7267T>G (p.Ser2423Ala) c.103T>G (p.Ser35Ala) c.201T>G n.7636T>G c.7540T>G (p.Ser2514Ala) | |
13 | g.32357760T= | CA2082817656 | BRCA2 | c.7636T= (p.Ser2546=) c.7267T= (p.Ser2423=) c.103T= (p.Ser35=) c.201T= n.7636T= c.7540T= (p.Ser2514=) | |
13 | g.32357760_32357770delinsTCTAAACATTG | CA2082817653 | BRCA2 | c.7636_7646delinsTCTAAACATTG (p.Ser2546=) c.7267_7277delinsTCTAAACATTG (p.Ser2423=) c.103_113delinsTCTAAACATTG (p.Ser35=) c.201_211delinsTCTAAACATTG n.7636_7646delinsTCTAAACATTG c.7540_7550delinsTCTAAACATTG (p.Ser2514=) | |
13 | g.32357761C>A | CA387744832 | BRCA2 | c.7637C>A (p.Ser2546Tyr) c.7268C>A (p.Ser2423Tyr) c.104C>A (p.Ser35Tyr) c.202C>A n.7637C>A c.7541C>A (p.Ser2514Tyr) | |
13 | g.32357761C= | CA2082817675 | BRCA2 | c.7637C= (p.Ser2546=) c.7268C= (p.Ser2423=) c.104C= (p.Ser35=) c.202C= n.7637C= c.7541C= (p.Ser2514=) | |
13 | g.32357761C>G | CA387744835 | BRCA2 | c.7637C>G (p.Ser2546Cys) c.7268C>G (p.Ser2423Cys) c.104C>G (p.Ser35Cys) c.202C>G n.7637C>G c.7541C>G (p.Ser2514Cys) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357761C>T | CA025205 | BRCA2 | c.7637C>T (p.Ser2546Phe) c.7268C>T (p.Ser2423Phe) c.104C>T (p.Ser35Phe) c.202C>T n.7637C>T c.7541C>T (p.Ser2514Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357762_32357771del | CA10589443 | BRCA2 | c.7638_7647del (p.Lys2547Ter) c.7269_7278del (p.Lys2424Ter) c.105_114del (p.Lys36Ter) c.203_212del n.7638_7647del c.7542_7551del (p.Lys2515Ter) | ClinVar dbSNP |
13 | g.32357762T>A | CA483439144 | BRCA2 | c.7638T>A (p.Ser2546=) c.7269T>A (p.Ser2423=) c.105T>A (p.Ser35=) c.203T>A n.7638T>A c.7542T>A (p.Ser2514=) | |
13 | g.32357762T>C | CA025206 | BRCA2 | c.7638T>C (p.Ser2546=) c.7269T>C (p.Ser2423=) c.105T>C (p.Ser35=) c.203T>C n.7638T>C c.7542T>C (p.Ser2514=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357762T>G | CA483439145 | BRCA2 | c.7638T>G (p.Ser2546=) c.7269T>G (p.Ser2423=) c.105T>G (p.Ser35=) c.203T>G n.7638T>G c.7542T>G (p.Ser2514=) | |
13 | g.32357762T= | CA2082817685 | BRCA2 | c.7638T= (p.Ser2546=) c.7269T= (p.Ser2423=) c.105T= (p.Ser35=) c.203T= n.7638T= c.7542T= (p.Ser2514=) | |
13 | g.32357762dup | CA2695217913 | BRCA2 | c.7638dup (p.Lys2547Ter) c.7269dup (p.Lys2424Ter) c.105dup (p.Lys36Ter) c.203dup n.7638dup c.7542dup (p.Lys2515Ter) | |
13 | g.32357763A= | CA2082817697 | BRCA2 | c.7639A= (p.Lys2547=) c.7270A= (p.Lys2424=) c.106A= (p.Lys36=) c.204A= n.7639A= c.7543A= (p.Lys2515=) | |
13 | g.32357763A>C | CA387744845 | BRCA2 | c.7639A>C (p.Lys2547Gln) c.7270A>C (p.Lys2424Gln) c.106A>C (p.Lys36Gln) c.204A>C n.7639A>C c.7543A>C (p.Lys2515Gln) | ClinVar dbSNP |
13 | g.32357763A>G | CA025207 | BRCA2 | c.7639A>G (p.Lys2547Glu) c.7270A>G (p.Lys2424Glu) c.106A>G (p.Lys36Glu) c.204A>G n.7639A>G c.7543A>G (p.Lys2515Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32357763A>T | CA387744842 | BRCA2 | c.7639A>T (p.Lys2547Ter) c.7270A>T (p.Lys2424Ter) c.106A>T (p.Lys36Ter) c.204A>T n.7639A>T c.7543A>T (p.Lys2515Ter) | dbSNP |
13 | g.32357765del | CA2573149407 | BRCA2 | c.7641del (p.Lys2547AsnfsTer4) c.7272del (p.Lys2424AsnfsTer4) c.108del (p.Lys36AsnfsTer4) c.206del n.7641del c.7545del (p.Lys2515AsnfsTer4) | ClinVar dbSNP |
13 | g.32357764A= | CA2082817705 | BRCA2 | c.7640A= (p.Lys2547=) c.7271A= (p.Lys2424=) c.107A= (p.Lys36=) c.205A= n.7640A= c.7544A= (p.Lys2515=) | |
13 | g.32357764A>C | CA387744848 | BRCA2 | c.7640A>C (p.Lys2547Thr) c.7271A>C (p.Lys2424Thr) c.107A>C (p.Lys36Thr) c.205A>C n.7640A>C c.7544A>C (p.Lys2515Thr) | |
13 | g.32357764A>G | CA387744851 | BRCA2 | c.7640A>G (p.Lys2547Arg) c.7271A>G (p.Lys2424Arg) c.107A>G (p.Lys36Arg) c.205A>G n.7640A>G c.7544A>G (p.Lys2515Arg) | dbSNP |
13 | g.32357764A>T | CA387744853 | BRCA2 | c.7640A>T (p.Lys2547Ile) c.7271A>T (p.Lys2424Ile) c.107A>T (p.Lys36Ile) c.205A>T n.7640A>T c.7544A>T (p.Lys2515Ile) | ClinVar dbSNP |
13 | g.32357765A= | CA2082817715 | BRCA2 | c.7641A= (p.Lys2547=) c.7272A= (p.Lys2424=) c.108A= (p.Lys36=) c.206A= n.7641A= c.7545A= (p.Lys2515=) | |
13 | g.32357765A>C | CA387744856 | BRCA2 | c.7641A>C (p.Lys2547Asn) c.7272A>C (p.Lys2424Asn) c.108A>C (p.Lys36Asn) c.206A>C n.7641A>C c.7545A>C (p.Lys2515Asn) | |
13 | g.32357765A>G | CA483439148 | BRCA2 | c.7641A>G (p.Lys2547=) c.7272A>G (p.Lys2424=) c.108A>G (p.Lys36=) c.206A>G n.7641A>G c.7545A>G (p.Lys2515=) | ClinVar dbSNP |
13 | g.32357765A>T | CA387744858 | BRCA2 | c.7641A>T (p.Lys2547Asn) c.7272A>T (p.Lys2424Asn) c.108A>T (p.Lys36Asn) c.206A>T n.7641A>T c.7545A>T (p.Lys2515Asn) | dbSNP |
13 | g.32357766C>A | CA387744862 | BRCA2 | c.7642C>A (p.His2548Asn) c.7273C>A (p.His2425Asn) c.109C>A (p.His37Asn) c.207C>A n.7642C>A c.7546C>A (p.His2516Asn) | |
13 | g.32357766C>G | CA387744863 | BRCA2 | c.7642C>G (p.His2548Asp) c.7273C>G (p.His2425Asp) c.109C>G (p.His37Asp) c.207C>G n.7642C>G c.7546C>G (p.His2516Asp) | dbSNP |
13 | g.32357766C>T | CA387744865 | BRCA2 | c.7642C>T (p.His2548Tyr) c.7273C>T (p.His2425Tyr) c.109C>T (p.His37Tyr) c.207C>T n.7642C>T c.7546C>T (p.His2516Tyr) | |
13 | g.32357766_32357768delinsCAT | CA2082817724 | BRCA2 | c.7642_7644delinsCAT (p.His2548=) c.7273_7275delinsCAT (p.His2425=) c.109_111delinsCAT (p.His37=) c.207_209delinsCAT n.7642_7644delinsCAT c.7546_7548delinsCAT (p.His2516=) | |
13 | g.32357767A= | CA2082817736 | BRCA2 | c.7643A= (p.His2548=) c.7274A= (p.His2425=) c.110A= (p.His37=) c.208A= n.7643A= c.7547A= (p.His2516=) | |
13 | g.32357767A>C | CA387744869 | BRCA2 | c.7643A>C (p.His2548Pro) c.7274A>C (p.His2425Pro) c.110A>C (p.His37Pro) c.208A>C n.7643A>C c.7547A>C (p.His2516Pro) | |
13 | g.32357767A>G | CA025208 | BRCA2 | c.7643A>G (p.His2548Arg) c.7274A>G (p.His2425Arg) c.110A>G (p.His37Arg) c.208A>G n.7643A>G c.7547A>G (p.His2516Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357767A>T | CA025209 | BRCA2 | c.7643A>T (p.His2548Leu) c.7274A>T (p.His2425Leu) c.110A>T (p.His37Leu) c.208A>T n.7643A>T c.7547A>T (p.His2516Leu) | ClinVar dbSNP |
13 | g.32357767_32357768del | CA10589444 | BRCA2 | c.7643_7644del (p.His2548LeufsTer5) c.7274_7275del (p.His2425LeufsTer5) c.110_111del (p.His37LeufsTer5) c.208_209del n.7643_7644del c.7547_7548del (p.His2516LeufsTer5) | ClinVar dbSNP |
13 | g.32357768T>A | CA387744876 | BRCA2 | c.7644T>A (p.His2548Gln) c.7275T>A (p.His2425Gln) c.111T>A (p.His37Gln) c.209T>A n.7644T>A c.7548T>A (p.His2516Gln) | dbSNP |
13 | g.32357768T>C | CA247470895 | BRCA2 | c.7644T>C (p.His2548=) c.7275T>C (p.His2425=) c.111T>C (p.His37=) c.209T>C n.7644T>C c.7548T>C (p.His2516=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357768T>G | CA387744877 | BRCA2 | c.7644T>G (p.His2548Gln) c.7275T>G (p.His2425Gln) c.111T>G (p.His37Gln) c.209T>G n.7644T>G c.7548T>G (p.His2516Gln) | |
13 | g.32357768T= | CA2082817746 | BRCA2 | c.7644T= (p.His2548=) c.7275T= (p.His2425=) c.111T= (p.His37=) c.209T= n.7644T= c.7548T= (p.His2516=) | |
13 | g.32357769dup | CA2695217916 | BRCA2 | c.7645dup (p.Cys2549LeufsTer5) c.7276dup (p.Cys2426LeufsTer5) c.112dup (p.Cys38LeufsTer5) c.210dup n.7645dup c.7549dup (p.Cys2517LeufsTer5) | |
13 | g.32357769T>A | CA387744886 | BRCA2 | c.7645T>A (p.Cys2549Ser) c.7276T>A (p.Cys2426Ser) c.112T>A (p.Cys38Ser) c.210T>A n.7645T>A c.7549T>A (p.Cys2517Ser) | dbSNP |
13 | g.32357769T>C | CA387744884 | BRCA2 | c.7645T>C (p.Cys2549Arg) c.7276T>C (p.Cys2426Arg) c.112T>C (p.Cys38Arg) c.210T>C n.7645T>C c.7549T>C (p.Cys2517Arg) | |
13 | g.32357769T>G | CA387744881 | BRCA2 | c.7645T>G (p.Cys2549Gly) c.7276T>G (p.Cys2426Gly) c.112T>G (p.Cys38Gly) c.210T>G n.7645T>G c.7549T>G (p.Cys2517Gly) | ClinVar dbSNP |
13 | g.32357769T= | CA2082817747 | BRCA2 | c.7645T= (p.Cys2549=) c.7276T= (p.Cys2426=) c.112T= (p.Cys38=) c.210T= n.7645T= c.7549T= (p.Cys2517=) | |
13 | g.32357770G>A | CA387744890 | BRCA2 | c.7646G>A (p.Cys2549Tyr) c.7277G>A (p.Cys2426Tyr) c.113G>A (p.Cys38Tyr) c.211G>A n.7646G>A c.7550G>A (p.Cys2517Tyr) | dbSNP gnomAD v4 |
13 | g.32357770G>C | CA387744892 | BRCA2 | c.7646G>C (p.Cys2549Ser) c.7277G>C (p.Cys2426Ser) c.113G>C (p.Cys38Ser) c.211G>C n.7646G>C c.7550G>C (p.Cys2517Ser) | ClinVar dbSNP |
13 | g.32357770G= | CA2082817748 | BRCA2 | c.7646G= (p.Cys2549=) c.7277G= (p.Cys2426=) c.113G= (p.Cys38=) c.211G= n.7646G= c.7550G= (p.Cys2517=) | |
13 | g.32357770G>T | CA387744895 | BRCA2 | c.7646G>T (p.Cys2549Phe) c.7277G>T (p.Cys2426Phe) c.113G>T (p.Cys38Phe) c.211G>T n.7646G>T c.7550G>T (p.Cys2517Phe) | dbSNP |
13 | g.32357771C>A | CA025210 | BRCA2 | c.7647C>A (p.Cys2549Ter) c.7278C>A (p.Cys2426Ter) c.114C>A (p.Cys38Ter) c.212C>A n.7647C>A c.7551C>A (p.Cys2517Ter) | ClinVar dbSNP |
13 | g.32357771C= | CA2082817769 | BRCA2 | c.7647C= (p.Cys2549=) c.7278C= (p.Cys2426=) c.114C= (p.Cys38=) c.212C= n.7647C= c.7551C= (p.Cys2517=) | |
13 | g.32357771C>G | CA387744899 | BRCA2 | c.7647C>G (p.Cys2549Trp) c.7278C>G (p.Cys2426Trp) c.114C>G (p.Cys38Trp) c.212C>G n.7647C>G c.7551C>G (p.Cys2517Trp) | dbSNP |
13 | g.32357771C>T | CA483439151 | BRCA2 | c.7647C>T (p.Cys2549=) c.7278C>T (p.Cys2426=) c.114C>T (p.Cys38=) c.212C>T n.7647C>T c.7551C>T (p.Cys2517=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357772A= | CA2082817780 | BRCA2 | c.7648A= (p.Ile2550=) c.7279A= (p.Ile2427=) c.115A= (p.Ile39=) c.213A= n.7648A= c.7552A= (p.Ile2518=) | |
13 | g.32357772A>C | CA247470908 | BRCA2 | c.7648A>C (p.Ile2550Leu) c.7279A>C (p.Ile2427Leu) c.115A>C (p.Ile39Leu) c.213A>C n.7648A>C c.7552A>C (p.Ile2518Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32357772A>G | CA025211 | BRCA2 | c.7648A>G (p.Ile2550Val) c.7279A>G (p.Ile2427Val) c.115A>G (p.Ile39Val) c.213A>G n.7648A>G c.7552A>G (p.Ile2518Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357772A>T | CA387744907 | BRCA2 | c.7648A>T (p.Ile2550Leu) c.7279A>T (p.Ile2427Leu) c.115A>T (p.Ile39Leu) c.213A>T n.7648A>T c.7552A>T (p.Ile2518Leu) | ClinVar dbSNP |
13 | g.32357773T>A | CA387744909 | BRCA2 | c.7649T>A (p.Ile2550Lys) c.7280T>A (p.Ile2427Lys) c.116T>A (p.Ile39Lys) c.214T>A n.7649T>A c.7553T>A (p.Ile2518Lys) | ClinVar dbSNP |
13 | g.32357773T>C | CA387744910 | BRCA2 | c.7649T>C (p.Ile2550Thr) c.7280T>C (p.Ile2427Thr) c.116T>C (p.Ile39Thr) c.214T>C n.7649T>C c.7553T>C (p.Ile2518Thr) | |
13 | g.32357773T>G | CA387744912 | BRCA2 | c.7649T>G (p.Ile2550Arg) c.7280T>G (p.Ile2427Arg) c.116T>G (p.Ile39Arg) c.214T>G n.7649T>G c.7553T>G (p.Ile2518Arg) | |
13 | g.32357773T= | CA2082817794 | BRCA2 | c.7649T= (p.Ile2550=) c.7280T= (p.Ile2427=) c.116T= (p.Ile39=) c.214T= n.7649T= c.7553T= (p.Ile2518=) | |
13 | g.32357774A= | CA2082817805 | BRCA2 | c.7650A= (p.Ile2550=) c.7281A= (p.Ile2427=) c.117A= (p.Ile39=) c.215A= n.7650A= c.7554A= (p.Ile2518=) | |
13 | g.32357774A>C | CA483439152 | BRCA2 | c.7650A>C (p.Ile2550=) c.7281A>C (p.Ile2427=) c.117A>C (p.Ile39=) c.215A>C n.7650A>C c.7554A>C (p.Ile2518=) | |
13 | g.32357774A>G | CA387744916 | BRCA2 | c.7650A>G (p.Ile2550Met) c.7281A>G (p.Ile2427Met) c.117A>G (p.Ile39Met) c.215A>G n.7650A>G c.7554A>G (p.Ile2518Met) | COSMIC COSMIC |
13 | g.32357774A>T | CA025212 | BRCA2 | c.7650A>T (p.Ile2550=) c.7281A>T (p.Ile2427=) c.117A>T (p.Ile39=) c.215A>T n.7650A>T c.7554A>T (p.Ile2518=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357778dup | CA10586078 | BRCA2 | c.7654dup (p.Ile2552AsnfsTer2) c.7285dup (p.Ile2429AsnfsTer2) c.121dup (p.Ile41AsnfsTer2) c.219dup n.7654dup c.7558dup (p.Ile2520AsnfsTer2) | ClinVar dbSNP |
13 | g.32357778del | CA891842180 | BRCA2 | c.7654del (p.Ile2552LeufsTer?) c.7285del (p.Ile2429LeufsTer?) c.121del (p.Ile41LeufsTer?) c.219del n.7654del c.7558del (p.Ile2520LeufsTer?) | ClinVar dbSNP gnomAD v4 |
13 | g.32357775A= | CA2082817814 | BRCA2 | c.7651A= (p.Lys2551=) c.7282A= (p.Lys2428=) c.118A= (p.Lys40=) c.216A= n.7651A= c.7555A= (p.Lys2519=) | |
13 | g.32357775A>C | CA025213 | BRCA2 | c.7651A>C (p.Lys2551Gln) c.7282A>C (p.Lys2428Gln) c.118A>C (p.Lys40Gln) c.216A>C n.7651A>C c.7555A>C (p.Lys2519Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357775A>G | CA387744922 | BRCA2 | c.7651A>G (p.Lys2551Glu) c.7282A>G (p.Lys2428Glu) c.118A>G (p.Lys40Glu) c.216A>G n.7651A>G c.7555A>G (p.Lys2519Glu) | ClinVar dbSNP |
13 | g.32357775A>T | CA387744920 | BRCA2 | c.7651A>T (p.Lys2551Ter) c.7282A>T (p.Lys2428Ter) c.118A>T (p.Lys40Ter) c.216A>T n.7651A>T c.7555A>T (p.Lys2519Ter) | dbSNP |
13 | g.32357776A>C | CA387744927 | BRCA2 | c.7652A>C (p.Lys2551Thr) c.7283A>C (p.Lys2428Thr) c.119A>C (p.Lys40Thr) c.217A>C n.7652A>C c.7556A>C (p.Lys2519Thr) | |
13 | g.32357776A>G | CA387744930 | BRCA2 | c.7652A>G (p.Lys2551Arg) c.7283A>G (p.Lys2428Arg) c.119A>G (p.Lys40Arg) c.217A>G n.7652A>G c.7556A>G (p.Lys2519Arg) | |
13 | g.32357776A>T | CA387744932 | BRCA2 | c.7652A>T (p.Lys2551Ile) c.7283A>T (p.Lys2428Ile) c.119A>T (p.Lys40Ile) c.217A>T n.7652A>T c.7556A>T (p.Lys2519Ile) | |
13 | g.32357776_32357780delinsAAATT | CA2082817826 | BRCA2 | c.7652_7656delinsAAATT (p.Lys2551=) c.7283_7287delinsAAATT (p.Lys2428=) c.119_123delinsAAATT (p.Lys40=) c.217_221delinsAAATT n.7652_7656delinsAAATT c.7556_7560delinsAAATT (p.Lys2519=) | |
13 | g.32357777A>C | CA387744936 | BRCA2 | c.7653A>C (p.Lys2551Asn) c.7284A>C (p.Lys2428Asn) c.120A>C (p.Lys40Asn) c.218A>C n.7653A>C c.7557A>C (p.Lys2519Asn) | |
13 | g.32357777A>G | CA483439153 | BRCA2 | c.7653A>G (p.Lys2551=) c.7284A>G (p.Lys2428=) c.120A>G (p.Lys40=) c.218A>G n.7653A>G c.7557A>G (p.Lys2519=) | |
13 | g.32357777A>T | CA387744939 | BRCA2 | c.7653A>T (p.Lys2551Asn) c.7284A>T (p.Lys2428Asn) c.120A>T (p.Lys40Asn) c.218A>T n.7653A>T c.7557A>T (p.Lys2519Asn) | |
13 | g.32357779_32357782del | CA025214 | BRCA2 | c.7655_7658del (p.Ile2552ThrfsTer?) c.7286_7289del (p.Ile2429ThrfsTer?) c.122_125del (p.Ile41ThrfsTer?) c.220_223del n.7655_7658del c.7559_7562del (p.Ile2520ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
13 | g.32357778A>C | CA387744943 | BRCA2 | c.7654A>C (p.Ile2552Leu) c.7285A>C (p.Ile2429Leu) c.121A>C (p.Ile41Leu) c.219A>C n.7654A>C c.7558A>C (p.Ile2520Leu) | |
13 | g.32357778A>G | CA387744946 | BRCA2 | c.7654A>G (p.Ile2552Val) c.7285A>G (p.Ile2429Val) c.121A>G (p.Ile41Val) c.219A>G n.7654A>G c.7558A>G (p.Ile2520Val) | ClinVar dbSNP |
13 | g.32357778A>T | CA387744949 | BRCA2 | c.7654A>T (p.Ile2552Phe) c.7285A>T (p.Ile2429Phe) c.121A>T (p.Ile41Phe) c.219A>T n.7654A>T c.7558A>T (p.Ile2520Phe) | |
13 | g.32357779T>A | CA387744952 | BRCA2 | c.7655T>A (p.Ile2552Asn) c.7286T>A (p.Ile2429Asn) c.122T>A (p.Ile41Asn) c.220T>A n.7655T>A c.7559T>A (p.Ile2520Asn) | dbSNP |
13 | g.32357779T>C | CA387744955 | BRCA2 | c.7655T>C (p.Ile2552Thr) c.7286T>C (p.Ile2429Thr) c.122T>C (p.Ile41Thr) c.220T>C n.7655T>C c.7559T>C (p.Ile2520Thr) | ClinVar dbSNP |
13 | g.32357779T>G | CA387744958 | BRCA2 | c.7655T>G (p.Ile2552Ser) c.7286T>G (p.Ile2429Ser) c.122T>G (p.Ile41Ser) c.220T>G n.7655T>G c.7559T>G (p.Ile2520Ser) | |
13 | g.32357779T= | CA2082817837 | BRCA2 | c.7655T= (p.Ile2552=) c.7286T= (p.Ile2429=) c.122T= (p.Ile41=) c.220T= n.7655T= c.7559T= (p.Ile2520=) | |
13 | g.32357780T>A | CA247470927 | BRCA2 | c.7656T>A (p.Ile2552=) c.7287T>A (p.Ile2429=) c.123T>A (p.Ile41=) c.221T>A n.7656T>A c.7560T>A (p.Ile2520=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357780T>C | CA483439154 | BRCA2 | c.7656T>C (p.Ile2552=) c.7287T>C (p.Ile2429=) c.123T>C (p.Ile41=) c.221T>C n.7656T>C c.7560T>C (p.Ile2520=) | |
13 | g.32357780T>G | CA387744962 | BRCA2 | c.7656T>G (p.Ile2552Met) c.7287T>G (p.Ile2429Met) c.123T>G (p.Ile41Met) c.221T>G n.7656T>G c.7560T>G (p.Ile2520Met) | |
13 | g.32357780T= | CA2082817846 | BRCA2 | c.7656T= (p.Ile2552=) c.7287T= (p.Ile2429=) c.123T= (p.Ile41=) c.221T= n.7656T= c.7560T= (p.Ile2520=) | |
13 | g.32357780_32357781delinsTA | CA2082817851 | BRCA2 | c.7656_7657delinsTA (p.Ile2552=) c.7287_7288delinsTA (p.Ile2429=) c.123_124delinsTA (p.Ile41=) c.221_222delinsTA n.7656_7657delinsTA c.7560_7561delinsTA (p.Ile2520=) | |
13 | g.32357780_32357783delinsTAAC | CA2082817844 | BRCA2 | c.7656_7659delinsTAAC (p.Ile2552=) c.7287_7290delinsTAAC (p.Ile2429=) c.123_126delinsTAAC (p.Ile41=) c.221_224delinsTAAC n.7656_7659delinsTAAC c.7560_7563delinsTAAC (p.Ile2520=) | |
13 | g.32357781A= | CA2082817869 | BRCA2 | c.7657A= (p.Asn2553=) c.7288A= (p.Asn2430=) c.124A= (p.Asn42=) c.222A= n.7657A= c.7561A= (p.Asn2521=) | |
13 | g.32357781A>C | CA387744966 | BRCA2 | c.7657A>C (p.Asn2553His) c.7288A>C (p.Asn2430His) c.124A>C (p.Asn42His) c.222A>C n.7657A>C c.7561A>C (p.Asn2521His) | |
13 | g.32357781A>G | CA387744969 | BRCA2 | c.7657A>G (p.Asn2553Asp) c.7288A>G (p.Asn2430Asp) c.124A>G (p.Asn42Asp) c.222A>G n.7657A>G c.7561A>G (p.Asn2521Asp) | ClinVar dbSNP |
13 | g.32357781A>T | CA387744971 | BRCA2 | c.7657A>T (p.Asn2553Tyr) c.7288A>T (p.Asn2430Tyr) c.124A>T (p.Asn42Tyr) c.222A>T n.7657A>T c.7561A>T (p.Asn2521Tyr) | dbSNP |
13 | g.32357782del | CA1139663200 | BRCA2 | c.7658del (p.Asn2553ThrfsTer?) c.7289del (p.Asn2430ThrfsTer?) c.125del (p.Asn42ThrfsTer?) c.223del n.7658del c.7562del (p.Asn2521ThrfsTer?) | ClinVar dbSNP |
13 | g.32357782_32357784del | CA6941127 | BRCA2 | c.7658_7660del (p.Asn2553del) c.7289_7291del (p.Asn2430del) c.125_127del (p.Asn42del) c.223_225del n.7658_7660del c.7562_7564del (p.Asn2521del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357782A= | CA2082817875 | BRCA2 | c.7658A= (p.Asn2553=) c.7289A= (p.Asn2430=) c.125A= (p.Asn42=) c.223A= n.7658A= c.7562A= (p.Asn2521=) | |
13 | g.32357782A>C | CA387744976 | BRCA2 | c.7658A>C (p.Asn2553Thr) c.7289A>C (p.Asn2430Thr) c.125A>C (p.Asn42Thr) c.223A>C n.7658A>C c.7562A>C (p.Asn2521Thr) | |
13 | g.32357782A>G | CA387744972 | BRCA2 | c.7658A>G (p.Asn2553Ser) c.7289A>G (p.Asn2430Ser) c.125A>G (p.Asn42Ser) c.223A>G n.7658A>G c.7562A>G (p.Asn2521Ser) | ClinVar dbSNP |
13 | g.32357782A>T | CA387744974 | BRCA2 | c.7658A>T (p.Asn2553Ile) c.7289A>T (p.Asn2430Ile) c.125A>T (p.Asn42Ile) c.223A>T n.7658A>T c.7562A>T (p.Asn2521Ile) | dbSNP |
13 | g.32357783del | CA2695199697 | BRCA2 | c.7659del (p.Asn2553LysfsTer?) c.7290del (p.Asn2430LysfsTer?) c.126del (p.Asn42LysfsTer?) c.224del n.7659del c.7563del (p.Asn2521LysfsTer?) | ClinVar |
13 | g.32357783C>A | CA387744977 | BRCA2 | c.7659C>A (p.Asn2553Lys) c.7290C>A (p.Asn2430Lys) c.126C>A (p.Asn42Lys) c.224C>A n.7659C>A c.7563C>A (p.Asn2521Lys) | dbSNP |
13 | g.32357783C= | CA2082817889 | BRCA2 | c.7659C= (p.Asn2553=) c.7290C= (p.Asn2430=) c.126C= (p.Asn42=) c.224C= n.7659C= c.7563C= (p.Asn2521=) | |
13 | g.32357783C>G | CA387744980 | BRCA2 | c.7659C>G (p.Asn2553Lys) c.7290C>G (p.Asn2430Lys) c.126C>G (p.Asn42Lys) c.224C>G n.7659C>G c.7563C>G (p.Asn2521Lys) | ClinVar dbSNP |
13 | g.32357783C>T | CA483439156 | BRCA2 | c.7659C>T (p.Asn2553=) c.7290C>T (p.Asn2430=) c.126C>T (p.Asn42=) c.224C>T n.7659C>T c.7563C>T (p.Asn2521=) | dbSNP gnomAD v4 |
13 | g.32357784del | CA2825002144 | BRCA2 | c.7660del (p.Ser2554AlafsTer?) c.7291del (p.Ser2431AlafsTer?) c.127del (p.Ser43AlafsTer?) c.225del n.7660del c.7564del (p.Ser2522AlafsTer?) | ClinVar |
13 | g.32357784A= | CA2082817900 | BRCA2 | c.7660A= (p.Ser2554=) c.7291A= (p.Ser2431=) c.127A= (p.Ser43=) c.225A= n.7660A= c.7564A= (p.Ser2522=) | |
13 | g.32357784A>C | CA387744983 | BRCA2 | c.7660A>C (p.Ser2554Arg) c.7291A>C (p.Ser2431Arg) c.127A>C (p.Ser43Arg) c.225A>C n.7660A>C c.7564A>C (p.Ser2522Arg) | |
13 | g.32357784A>G | CA10586079 | BRCA2 | c.7660A>G (p.Ser2554Gly) c.7291A>G (p.Ser2431Gly) c.127A>G (p.Ser43Gly) c.225A>G n.7660A>G c.7564A>G (p.Ser2522Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32357784A>T | CA387744987 | BRCA2 | c.7660A>T (p.Ser2554Cys) c.7291A>T (p.Ser2431Cys) c.127A>T (p.Ser43Cys) c.225A>T n.7660A>T c.7564A>T (p.Ser2522Cys) | dbSNP |
13 | g.32357785G>A | CA025215 | BRCA2 | c.7661G>A (p.Ser2554Asn) c.7292G>A (p.Ser2431Asn) c.128G>A (p.Ser43Asn) c.226G>A n.7661G>A c.7565G>A (p.Ser2522Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357785G>C | CA387744991 | BRCA2 | c.7661G>C (p.Ser2554Thr) c.7292G>C (p.Ser2431Thr) c.128G>C (p.Ser43Thr) c.226G>C n.7661G>C c.7565G>C (p.Ser2522Thr) | ClinVar dbSNP |
13 | g.32357785G= | CA2082817925 | BRCA2 | c.7661G= (p.Ser2554=) c.7292G= (p.Ser2431=) c.128G= (p.Ser43=) c.226G= n.7661G= c.7565G= (p.Ser2522=) | |
13 | g.32357785G>T | CA387744994 | BRCA2 | c.7661G>T (p.Ser2554Ile) c.7292G>T (p.Ser2431Ile) c.128G>T (p.Ser43Ile) c.226G>T n.7661G>T c.7565G>T (p.Ser2522Ile) | dbSNP |
13 | g.32357786C>A | CA387744997 | BRCA2 | c.7662C>A (p.Ser2554Arg) c.7293C>A (p.Ser2431Arg) c.129C>A (p.Ser43Arg) c.227C>A n.7662C>A c.7566C>A (p.Ser2522Arg) | |
13 | g.32357786C= | CA2082817942 | BRCA2 | c.7662C= (p.Ser2554=) c.7293C= (p.Ser2431=) c.129C= (p.Ser43=) c.227C= n.7662C= c.7566C= (p.Ser2522=) | |
13 | g.32357786C>G | CA387744999 | BRCA2 | c.7662C>G (p.Ser2554Arg) c.7293C>G (p.Ser2431Arg) c.129C>G (p.Ser43Arg) c.227C>G n.7662C>G c.7566C>G (p.Ser2522Arg) | |
13 | g.32357786C>T | CA483439158 | BRCA2 | c.7662C>T (p.Ser2554=) c.7293C>T (p.Ser2431=) c.129C>T (p.Ser43=) c.227C>T n.7662C>T c.7566C>T (p.Ser2522=) | |
13 | g.32357786_32357787delinsCA | CA2082817946 | BRCA2 | c.7662_7663delinsCA (p.Ser2554=) c.7293_7294delinsCA (p.Ser2431=) c.129_130delinsCA (p.Ser43=) c.227_228delinsCA n.7662_7663delinsCA c.7566_7567delinsCA (p.Ser2522=) | |
13 | g.32357787A= | CA2082817961 | BRCA2 | c.7663A= (p.Lys2555=) c.7294A= (p.Lys2432=) c.130A= (p.Lys44=) c.228A= n.7663A= c.7567A= (p.Lys2523=) | |
13 | g.32357787A>C | CA387745006 | BRCA2 | c.7663A>C (p.Lys2555Gln) c.7294A>C (p.Lys2432Gln) c.130A>C (p.Lys44Gln) c.228A>C n.7663A>C c.7567A>C (p.Lys2523Gln) | |
13 | g.32357787A>G | CA387745002 | BRCA2 | c.7663A>G (p.Lys2555Glu) c.7294A>G (p.Lys2432Glu) c.130A>G (p.Lys44Glu) c.228A>G n.7663A>G c.7567A>G (p.Lys2523Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32357787A>T | CA387745005 | BRCA2 | c.7663A>T (p.Lys2555Ter) c.7294A>T (p.Lys2432Ter) c.130A>T (p.Lys44Ter) c.228A>T n.7663A>T c.7567A>T (p.Lys2523Ter) | ClinVar |
13 | g.32357791dup | CA10581592 | BRCA2 | c.7667dup (p.Asn2556LysfsTer10) c.7298dup (p.Asn2433LysfsTer10) c.134dup (p.Asn45LysfsTer10) c.232dup n.7667dup c.7571dup (p.Asn2524LysfsTer10) | ClinVar dbSNP |
13 | g.32357790_32357791dup | CA10589445 | BRCA2 | c.7666_7667dup (p.Asn2556LysfsTer?) c.7297_7298dup (p.Asn2433LysfsTer?) c.133_134dup (p.Asn45LysfsTer?) c.231_232dup n.7666_7667dup c.7570_7571dup (p.Asn2524LysfsTer?) | ClinVar dbSNP |
13 | g.32357791del | CA1139663201 | BRCA2 | c.7667del (p.Asn2556MetfsTer?) c.7298del (p.Asn2433MetfsTer?) c.134del (p.Asn45MetfsTer?) c.232del n.7667del c.7571del (p.Asn2524MetfsTer?) | ClinVar dbSNP |
13 | g.32357788A= | CA2082817978 | BRCA2 | c.7664A= (p.Lys2555=) c.7295A= (p.Lys2432=) c.131A= (p.Lys44=) c.229A= n.7664A= c.7568A= (p.Lys2523=) | |
13 | g.32357788A>C | CA387745007 | BRCA2 | c.7664A>C (p.Lys2555Thr) c.7295A>C (p.Lys2432Thr) c.131A>C (p.Lys44Thr) c.229A>C n.7664A>C c.7568A>C (p.Lys2523Thr) | |
13 | g.32357788A>G | CA387745008 | BRCA2 | c.7664A>G (p.Lys2555Arg) c.7295A>G (p.Lys2432Arg) c.131A>G (p.Lys44Arg) c.229A>G n.7664A>G c.7568A>G (p.Lys2523Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357788A>T | CA387745009 | BRCA2 | c.7664A>T (p.Lys2555Ile) c.7295A>T (p.Lys2432Ile) c.131A>T (p.Lys44Ile) c.229A>T n.7664A>T c.7568A>T (p.Lys2523Ile) | dbSNP |
13 | g.32357789A= | CA2082817990 | BRCA2 | c.7665A= (p.Lys2555=) c.7296A= (p.Lys2432=) c.132A= (p.Lys44=) c.230A= n.7665A= c.7569A= (p.Lys2523=) | |
13 | g.32357789A>C | CA387745010 | BRCA2 | c.7665A>C (p.Lys2555Asn) c.7296A>C (p.Lys2432Asn) c.132A>C (p.Lys44Asn) c.230A>C n.7665A>C c.7569A>C (p.Lys2523Asn) | |
13 | g.32357789A>G | CA16606439 | BRCA2 | c.7665A>G (p.Lys2555=) c.7296A>G (p.Lys2432=) c.132A>G (p.Lys44=) c.230A>G n.7665A>G c.7569A>G (p.Lys2523=) | ClinVar dbSNP |
13 | g.32357789A>T | CA387745011 | BRCA2 | c.7665A>T (p.Lys2555Asn) c.7296A>T (p.Lys2432Asn) c.132A>T (p.Lys44Asn) c.230A>T n.7665A>T c.7569A>T (p.Lys2523Asn) | |
13 | g.32357790A>C | CA387745013 | BRCA2 | c.7666A>C (p.Asn2556His) c.7297A>C (p.Asn2433His) c.133A>C (p.Asn45His) c.231A>C n.7666A>C c.7570A>C (p.Asn2524His) | |
13 | g.32357790A>G | CA387745016 | BRCA2 | c.7666A>G (p.Asn2556Asp) c.7297A>G (p.Asn2433Asp) c.133A>G (p.Asn45Asp) c.231A>G n.7666A>G c.7570A>G (p.Asn2524Asp) | |
13 | g.32357790A>T | CA387745023 | BRCA2 | c.7666A>T (p.Asn2556Tyr) c.7297A>T (p.Asn2433Tyr) c.133A>T (p.Asn45Tyr) c.231A>T n.7666A>T c.7570A>T (p.Asn2524Tyr) | dbSNP |
13 | g.32357791A>C | CA387745025 | BRCA2 | c.7667A>C (p.Asn2556Thr) c.7298A>C (p.Asn2433Thr) c.134A>C (p.Asn45Thr) c.232A>C n.7667A>C c.7571A>C (p.Asn2524Thr) | gnomAD v4 |
13 | g.32357791A>G | CA387745027 | BRCA2 | c.7667A>G (p.Asn2556Ser) c.7298A>G (p.Asn2433Ser) c.134A>G (p.Asn45Ser) c.232A>G n.7667A>G c.7571A>G (p.Asn2524Ser) | |
13 | g.32357791A>T | CA387745028 | BRCA2 | c.7667A>T (p.Asn2556Ile) c.7298A>T (p.Asn2433Ile) c.134A>T (p.Asn45Ile) c.232A>T n.7667A>T c.7571A>T (p.Asn2524Ile) | dbSNP gnomAD v4 |
13 | g.32357791_32357792insAGAAAAACAATTTAAAGTAAACA | CA2517010024 | BRCA2 | c.7667_7668insAGAAAAACAATTTAAAGTAAACA (p.Asn2556LysfsTer?) c.7298_7299insAGAAAAACAATTTAAAGTAAACA (p.Asn2433LysfsTer?) c.134_135insAGAAAAACAATTTAAAGTAAACA (p.Asn45LysfsTer?) c.232_233insAGAAAAACAATTTAAAGTAAACA n.7667_7668insAGAAAAACAATTTAAAGTAAACA c.7571_7572insAGAAAAACAATTTAAAGTAAACA (p.Asn2524LysfsTer?) | |
13 | g.32357792T>A | CA387745029 | BRCA2 | c.7668T>A (p.Asn2556Lys) c.7299T>A (p.Asn2433Lys) c.135T>A (p.Asn45Lys) c.233T>A n.7668T>A c.7572T>A (p.Asn2524Lys) | dbSNP |
13 | g.32357792T>C | CA483439162 | BRCA2 | c.7668T>C (p.Asn2556=) c.7299T>C (p.Asn2433=) c.135T>C (p.Asn45=) c.233T>C n.7668T>C c.7572T>C (p.Asn2524=) | |
13 | g.32357792T>G | CA387745036 | BRCA2 | c.7668T>G (p.Asn2556Lys) c.7299T>G (p.Asn2433Lys) c.135T>G (p.Asn45Lys) c.233T>G n.7668T>G c.7572T>G (p.Asn2524Lys) | |
13 | g.32357792T= | CA2082817992 | BRCA2 | c.7668T= (p.Asn2556=) c.7299T= (p.Asn2433=) c.135T= (p.Asn45=) c.233T= n.7668T= c.7572T= (p.Asn2524=) | |
13 | g.32357792_32357793insA | CA10589446 | BRCA2 | c.7668_7669insA (p.Ala2557SerfsTer9) c.7299_7300insA (p.Ala2434SerfsTer9) c.135_136insA (p.Ala46SerfsTer9) c.233_234insA n.7668_7669insA c.7572_7573insA (p.Ala2525SerfsTer9) | ClinVar dbSNP |
13 | g.32357793G>A | CA10579747 | BRCA2 | c.7669G>A (p.Ala2557Thr) c.7300G>A (p.Ala2434Thr) c.136G>A (p.Ala46Thr) c.234G>A n.7669G>A c.7573G>A (p.Ala2525Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357793G>C | CA387745041 | BRCA2 | c.7669G>C (p.Ala2557Pro) c.7300G>C (p.Ala2434Pro) c.136G>C (p.Ala46Pro) c.234G>C n.7669G>C c.7573G>C (p.Ala2525Pro) | dbSNP |
13 | g.32357793G= | CA2082818001 | BRCA2 | c.7669G= (p.Ala2557=) c.7300G= (p.Ala2434=) c.136G= (p.Ala46=) c.234G= n.7669G= c.7573G= (p.Ala2525=) | |
13 | g.32357793G>T | CA387745044 | BRCA2 | c.7669G>T (p.Ala2557Ser) c.7300G>T (p.Ala2434Ser) c.136G>T (p.Ala46Ser) c.234G>T n.7669G>T c.7573G>T (p.Ala2525Ser) | |
13 | g.32357793_32357794insTATCACACAATAAAAACAATTATAACAAA | CA2501501461 | BRCA2 | c.7669_7670insTATCACACAATAAAAACAATTATAACAAA (p.Ala2557ValfsTer?) c.7300_7301insTATCACACAATAAAAACAATTATAACAAA (p.Ala2434ValfsTer?) c.136_137insTATCACACAATAAAAACAATTATAACAAA (p.Ala46ValfsTer?) c.234_235insTATCACACAATAAAAACAATTATAACAAA n.7669_7670insTATCACACAATAAAAACAATTATAACAAA c.7573_7574insTATCACACAATAAAAACAATTATAACAAA (p.Ala2525ValfsTer?) | |
13 | g.32357794C>A | CA387745046 | BRCA2 | c.7670C>A (p.Ala2557Glu) c.7301C>A (p.Ala2434Glu) c.137C>A (p.Ala46Glu) c.235C>A n.7670C>A c.7574C>A (p.Ala2525Glu) | ClinVar |
13 | g.32357794C= | CA2082818022 | BRCA2 | c.7670C= (p.Ala2557=) c.7301C= (p.Ala2434=) c.137C= (p.Ala46=) c.235C= n.7670C= c.7574C= (p.Ala2525=) | |
13 | g.32357794C>G | CA387745047 | BRCA2 | c.7670C>G (p.Ala2557Gly) c.7301C>G (p.Ala2434Gly) c.137C>G (p.Ala46Gly) c.235C>G n.7670C>G c.7574C>G (p.Ala2525Gly) | dbSNP |
13 | g.32357794C>T | CA6941128 | BRCA2 | c.7670C>T (p.Ala2557Val) c.7301C>T (p.Ala2434Val) c.137C>T (p.Ala46Val) c.235C>T n.7670C>T c.7574C>T (p.Ala2525Val) | ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC |
13 | g.32357794_32357795delinsCA | CA2082818011 | BRCA2 | c.7670_7671delinsCA (p.Ala2557=) c.7301_7302delinsCA (p.Ala2434=) c.137_138delinsCA (p.Ala46=) c.235_236delinsCA n.7670_7671delinsCA c.7574_7575delinsCA (p.Ala2525=) | |
13 | g.32357794_32357796delinsCAG | CA2082818010 | BRCA2 | c.7670_7672delinsCAG (p.Ala2557=) c.7301_7303delinsCAG (p.Ala2434=) c.137_139delinsCAG (p.Ala46=) c.235_237delinsCAG n.7670_7672delinsCAG c.7574_7576delinsCAG (p.Ala2525=) | |
13 | g.32357795del | CA025216 | BRCA2 | c.7671del (p.Glu2558SerfsTer?) c.7302del (p.Glu2435SerfsTer?) c.138del (p.Glu47SerfsTer?) c.236del n.7671del c.7575del (p.Glu2526SerfsTer?) | ClinVar dbSNP |
13 | g.32357795A= | CA2082818045 | BRCA2 | c.7671A= (p.Ala2557=) c.7302A= (p.Ala2434=) c.138A= (p.Ala46=) c.236A= n.7671A= c.7575A= (p.Ala2525=) | |
13 | g.32357795A>C | CA483439166 | BRCA2 | c.7671A>C (p.Ala2557=) c.7302A>C (p.Ala2434=) c.138A>C (p.Ala46=) c.236A>C n.7671A>C c.7575A>C (p.Ala2525=) | ClinVar |
13 | g.32357795A>G | CA16607482 | BRCA2 | c.7671A>G (p.Ala2557=) c.7302A>G (p.Ala2434=) c.138A>G (p.Ala46=) c.236A>G n.7671A>G c.7575A>G (p.Ala2525=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357795A>T | CA483439165 | BRCA2 | c.7671A>T (p.Ala2557=) c.7302A>T (p.Ala2434=) c.138A>T (p.Ala46=) c.236A>T n.7671A>T c.7575A>T (p.Ala2525=) | dbSNP |
13 | g.32357797_32357798dup | CA6941129 | BRCA2 | c.7673_7674dup (p.Phe2560LeufsTer?) c.7304_7305dup (p.Phe2437LeufsTer?) c.140_141dup (p.Phe49LeufsTer?) c.238_239dup n.7673_7674dup c.7577_7578dup (p.Phe2528LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357797_32357798del | CA025217 | BRCA2 | c.7673_7674del (p.Glu2558ValfsTer7) c.7304_7305del (p.Glu2435ValfsTer7) c.140_141del (p.Glu47ValfsTer7) c.238_239del n.7673_7674del c.7577_7578del (p.Glu2526ValfsTer7) | ClinVar dbSNP gnomAD v4 |
13 | g.32357796G>A | CA387745055 | BRCA2 | c.7672G>A (p.Glu2558Lys) c.7303G>A (p.Glu2435Lys) c.139G>A (p.Glu47Lys) c.237G>A n.7672G>A c.7576G>A (p.Glu2526Lys) | ClinVar |
13 | g.32357796G>C | CA10575928 | BRCA2 | c.7672G>C (p.Glu2558Gln) c.7303G>C (p.Glu2435Gln) c.139G>C (p.Glu47Gln) c.237G>C n.7672G>C c.7576G>C (p.Glu2526Gln) | ClinVar dbSNP |
13 | g.32357796G= | CA2082818059 | BRCA2 | c.7672G= (p.Glu2558=) c.7303G= (p.Glu2435=) c.139G= (p.Glu47=) c.237G= n.7672G= c.7576G= (p.Glu2526=) | |
13 | g.32357796G>T | CA387745058 | BRCA2 | c.7672G>T (p.Glu2558Ter) c.7303G>T (p.Glu2435Ter) c.139G>T (p.Glu47Ter) c.237G>T n.7672G>T c.7576G>T (p.Glu2526Ter) | |
13 | g.32357796_32357797delinsGA | CA2082818056 | BRCA2 | c.7672_7673delinsGA (p.Glu2558=) c.7303_7304delinsGA (p.Glu2435=) c.139_140delinsGA (p.Glu47=) c.237_238delinsGA n.7672_7673delinsGA c.7576_7577delinsGA (p.Glu2526=) | |
13 | g.32357797del | CA10583134 | BRCA2 | c.7673del (p.Glu2558GlyfsTer?) c.7304del (p.Glu2435GlyfsTer?) c.140del (p.Glu47GlyfsTer?) c.238del n.7673del c.7577del (p.Glu2526GlyfsTer?) | ClinVar dbSNP |
13 | g.32357797A= | CA2082818074 | BRCA2 | c.7673A= (p.Glu2558=) c.7304A= (p.Glu2435=) c.140A= (p.Glu47=) c.238A= n.7673A= c.7577A= (p.Glu2526=) | |
13 | g.32357797A>C | CA387745072 | BRCA2 | c.7673A>C (p.Glu2558Ala) c.7304A>C (p.Glu2435Ala) c.140A>C (p.Glu47Ala) c.238A>C n.7673A>C c.7577A>C (p.Glu2526Ala) | ClinVar dbSNP |
13 | g.32357797A>G | CA387745064 | BRCA2 | c.7673A>G (p.Glu2558Gly) c.7304A>G (p.Glu2435Gly) c.140A>G (p.Glu47Gly) c.238A>G n.7673A>G c.7577A>G (p.Glu2526Gly) | |
13 | g.32357797A>T | CA025218 | BRCA2 | c.7673A>T (p.Glu2558Val) c.7304A>T (p.Glu2435Val) c.140A>T (p.Glu47Val) c.238A>T n.7673A>T c.7577A>T (p.Glu2526Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357798G>A | CA483439168 | BRCA2 | c.7674G>A (p.Glu2558=) c.7305G>A (p.Glu2435=) c.141G>A (p.Glu47=) c.239G>A n.7674G>A c.7578G>A (p.Glu2526=) | dbSNP |
13 | g.32357798G>C | CA025219 | BRCA2 | c.7674G>C (p.Glu2558Asp) c.7305G>C (p.Glu2435Asp) c.141G>C (p.Glu47Asp) c.239G>C n.7674G>C c.7578G>C (p.Glu2526Asp) | ClinVar dbSNP |
13 | g.32357798G= | CA2082818094 | BRCA2 | c.7674G= (p.Glu2558=) c.7305G= (p.Glu2435=) c.141G= (p.Glu47=) c.239G= n.7674G= c.7578G= (p.Glu2526=) | |
13 | g.32357798G>T | CA387745077 | BRCA2 | c.7674G>T (p.Glu2558Asp) c.7305G>T (p.Glu2435Asp) c.141G>T (p.Glu47Asp) c.239G>T n.7674G>T c.7578G>T (p.Glu2526Asp) | |
13 | g.32357798_32357800delinsGTC | CA2082818099 | BRCA2 | c.7674_7676delinsGTC (p.Glu2558=) c.7305_7307delinsGTC (p.Glu2435=) c.141_143delinsGTC (p.Glu47=) c.239_241delinsGTC n.7674_7676delinsGTC c.7578_7580delinsGTC (p.Glu2526=) | |
13 | g.32357798_32357803delinsGTCTTT | CA2082818097 | BRCA2 | c.7674_7679delinsGTCTTT (p.Glu2558=) c.7305_7310delinsGTCTTT (p.Glu2435=) c.141_146delinsGTCTTT (p.Glu47=) c.239_244delinsGTCTTT n.7674_7679delinsGTCTTT c.7578_7583delinsGTCTTT (p.Glu2526=) | |
13 | g.32357798_32357799insAAAC | CA658823753 | BRCA2 | c.7674_7675insAAAC (p.Ser2559LysfsTer8) c.7305_7306insAAAC (p.Ser2436LysfsTer8) c.141_142insAAAC (p.Ser48LysfsTer8) c.239_240insAAAC n.7674_7675insAAAC c.7578_7579insAAAC (p.Ser2527LysfsTer8) | ClinVar dbSNP |
13 | g.32357799T>A | CA387745084 | BRCA2 | c.7675T>A (p.Ser2559Thr) c.7306T>A (p.Ser2436Thr) c.142T>A (p.Ser48Thr) c.240T>A n.7675T>A c.7579T>A (p.Ser2527Thr) | ClinVar dbSNP |
13 | g.32357799T>C | CA387745087 | BRCA2 | c.7675T>C (p.Ser2559Pro) c.7306T>C (p.Ser2436Pro) c.142T>C (p.Ser48Pro) c.240T>C n.7675T>C c.7579T>C (p.Ser2527Pro) | COSMIC COSMIC |
13 | g.32357799T>G | CA387745090 | BRCA2 | c.7675T>G (p.Ser2559Ala) c.7306T>G (p.Ser2436Ala) c.142T>G (p.Ser48Ala) c.240T>G n.7675T>G c.7579T>G (p.Ser2527Ala) | dbSNP |
13 | g.32357799T= | CA2082818116 | BRCA2 | c.7675T= (p.Ser2559=) c.7306T= (p.Ser2436=) c.142T= (p.Ser48=) c.240T= n.7675T= c.7579T= (p.Ser2527=) | |
13 | g.32357800_32357801del | CA915946875 | BRCA2 | c.7676_7677del (p.Ser2559PhefsTer6) c.7307_7308del (p.Ser2436PhefsTer6) c.143_144del (p.Ser48PhefsTer6) c.241_242del n.7676_7677del c.7580_7581del (p.Ser2527PhefsTer6) | ClinVar dbSNP |
13 | g.32357801_32357805del | CA2082818117 | BRCA2 | c.7677_7681del (p.Phe2560ValfsTer4) c.7308_7312del (p.Phe2437ValfsTer4) c.144_148del (p.Phe49ValfsTer4) c.242_246del n.7677_7681del c.7581_7585del (p.Phe2528ValfsTer4) | dbSNP |
13 | g.32357799_32357800insAAAC | CA025220 | BRCA2 | c.7675_7676insAAAC (p.Ser2559Ter) c.7306_7307insAAAC (p.Ser2436Ter) c.142_143insAAAC (p.Ser48Ter) c.240_241insAAAC n.7675_7676insAAAC c.7579_7580insAAAC (p.Ser2527Ter) | ClinVar dbSNP |
13 | g.32357800C>A | CA387745094 | BRCA2 | c.7676C>A (p.Ser2559Tyr) c.7307C>A (p.Ser2436Tyr) c.143C>A (p.Ser48Tyr) c.241C>A n.7676C>A c.7580C>A (p.Ser2527Tyr) | COSMIC COSMIC |
13 | g.32357800C= | CA2082818141 | BRCA2 | c.7676C= (p.Ser2559=) c.7307C= (p.Ser2436=) c.143C= (p.Ser48=) c.241C= n.7676C= c.7580C= (p.Ser2527=) | |
13 | g.32357800C>G | CA16614210 | BRCA2 | c.7676C>G (p.Ser2559Cys) c.7307C>G (p.Ser2436Cys) c.143C>G (p.Ser48Cys) c.241C>G n.7676C>G c.7580C>G (p.Ser2527Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357800C>T | CA387745097 | BRCA2 | c.7676C>T (p.Ser2559Phe) c.7307C>T (p.Ser2436Phe) c.143C>T (p.Ser48Phe) c.241C>T n.7676C>T c.7580C>T (p.Ser2527Phe) | ClinVar dbSNP |
13 | g.32357800_32357802delinsCTT | CA2082818134 | BRCA2 | c.7676_7678delinsCTT (p.Ser2559=) c.7307_7309delinsCTT (p.Ser2436=) c.143_145delinsCTT (p.Ser48=) c.241_243delinsCTT n.7676_7678delinsCTT c.7580_7582delinsCTT (p.Ser2527=) | |
13 | g.32357801T>A | CA483439170 | BRCA2 | c.7677T>A (p.Ser2559=) c.7308T>A (p.Ser2436=) c.144T>A (p.Ser48=) c.242T>A n.7677T>A c.7581T>A (p.Ser2527=) | dbSNP |
13 | g.32357801T>C | CA483439171 | BRCA2 | c.7677T>C (p.Ser2559=) c.7308T>C (p.Ser2436=) c.144T>C (p.Ser48=) c.242T>C n.7677T>C c.7581T>C (p.Ser2527=) | |
13 | g.32357801T>G | CA483439172 | BRCA2 | c.7677T>G (p.Ser2559=) c.7308T>G (p.Ser2436=) c.144T>G (p.Ser48=) c.242T>G n.7677T>G c.7581T>G (p.Ser2527=) | |
13 | g.32357804dup | CA025225 | BRCA2 | c.7680dup (p.Gln2561SerfsTer5) c.7311dup (p.Gln2438SerfsTer5) c.147dup (p.Gln50SerfsTer5) c.245dup n.7680dup c.7584dup (p.Gln2529SerfsTer5) | ClinVar dbSNP |
13 | g.32357804del | CA025226 | BRCA2 | c.7680del (p.Gln2561SerfsTer?) c.7311del (p.Gln2438SerfsTer?) c.147del (p.Gln50SerfsTer?) c.245del n.7680del c.7584del (p.Gln2529SerfsTer?) | ClinVar dbSNP |
13 | g.32357803_32357804del | CA025223 | BRCA2 | c.7679_7680del (p.Phe2560SerfsTer5) c.7310_7311del (p.Phe2437SerfsTer5) c.146_147del (p.Phe49SerfsTer5) c.244_245del n.7679_7680del c.7583_7584del (p.Phe2528SerfsTer5) | ClinVar dbSNP gnomAD v4 |
13 | g.32357802T>A | CA387745109 | BRCA2 | c.7678T>A (p.Phe2560Ile) c.7309T>A (p.Phe2437Ile) c.145T>A (p.Phe49Ile) c.243T>A n.7678T>A c.7582T>A (p.Phe2528Ile) | |
13 | g.32357802T>C | CA387745107 | BRCA2 | c.7678T>C (p.Phe2560Leu) c.7309T>C (p.Phe2437Leu) c.145T>C (p.Phe49Leu) c.243T>C n.7678T>C c.7582T>C (p.Phe2528Leu) | ClinVar dbSNP |
13 | g.32357802T>G | CA387745105 | BRCA2 | c.7678T>G (p.Phe2560Val) c.7309T>G (p.Phe2437Val) c.145T>G (p.Phe49Val) c.243T>G n.7678T>G c.7582T>G (p.Phe2528Val) | |
13 | g.32357802T= | CA2082818166 | BRCA2 | c.7678T= (p.Phe2560=) c.7309T= (p.Phe2437=) c.145T= (p.Phe49=) c.243T= n.7678T= c.7582T= (p.Phe2528=) | |
13 | g.32357803T>A | CA387745118 | BRCA2 | c.7679T>A (p.Phe2560Tyr) c.7310T>A (p.Phe2437Tyr) c.146T>A (p.Phe49Tyr) c.244T>A n.7679T>A c.7583T>A (p.Phe2528Tyr) | dbSNP |
13 | g.32357803T>C | CA6941130 | BRCA2 | c.7679T>C (p.Phe2560Ser) c.7310T>C (p.Phe2437Ser) c.146T>C (p.Phe49Ser) c.244T>C n.7679T>C c.7583T>C (p.Phe2528Ser) | ClinVar dbSNP ExAC |
13 | g.32357803T>G | CA387745117 | BRCA2 | c.7679T>G (p.Phe2560Cys) c.7310T>G (p.Phe2437Cys) c.146T>G (p.Phe49Cys) c.244T>G n.7679T>G c.7583T>G (p.Phe2528Cys) | dbSNP |
13 | g.32357803T= | CA2082818174 | BRCA2 | c.7679T= (p.Phe2560=) c.7310T= (p.Phe2437=) c.146T= (p.Phe49=) c.244T= n.7679T= c.7583T= (p.Phe2528=) | |
13 | g.32357804T>A | CA387745119 | BRCA2 | c.7680T>A (p.Phe2560Leu) c.7311T>A (p.Phe2437Leu) c.147T>A (p.Phe49Leu) c.245T>A n.7680T>A c.7584T>A (p.Phe2528Leu) | |
13 | g.32357804T>C | CA483439176 | BRCA2 | c.7680T>C (p.Phe2560=) c.7311T>C (p.Phe2437=) c.147T>C (p.Phe49=) c.245T>C n.7680T>C c.7584T>C (p.Phe2528=) | ClinVar dbSNP |
13 | g.32357804T>G | CA387745120 | BRCA2 | c.7680T>G (p.Phe2560Leu) c.7311T>G (p.Phe2437Leu) c.147T>G (p.Phe49Leu) c.245T>G n.7680T>G c.7584T>G (p.Phe2528Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357804T= | CA2082818178 | BRCA2 | c.7680T= (p.Phe2560=) c.7311T= (p.Phe2437=) c.147T= (p.Phe49=) c.245T= n.7680T= c.7584T= (p.Phe2528=) | |
13 | g.32357805C>A | CA387745121 | BRCA2 | c.7681C>A (p.Gln2561Lys) c.7312C>A (p.Gln2438Lys) c.148C>A (p.Gln50Lys) c.246C>A n.7681C>A c.7585C>A (p.Gln2529Lys) | ClinVar |
13 | g.32357805C= | CA2082818186 | BRCA2 | c.7681C= (p.Gln2561=) c.7312C= (p.Gln2438=) c.148C= (p.Gln50=) c.246C= n.7681C= c.7585C= (p.Gln2529=) | |
13 | g.32357805C>G | CA387745124 | BRCA2 | c.7681C>G (p.Gln2561Glu) c.7312C>G (p.Gln2438Glu) c.148C>G (p.Gln50Glu) c.246C>G n.7681C>G c.7585C>G (p.Gln2529Glu) | dbSNP |
13 | g.32357805C>T | CA025228 | BRCA2 | c.7681C>T (p.Gln2561Ter) c.7312C>T (p.Gln2438Ter) c.148C>T (p.Gln50Ter) c.246C>T n.7681C>T c.7585C>T (p.Gln2529Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32357805_32357806insT | CA025227 | BRCA2 | c.7681_7682insT (p.Gln2561LeufsTer5) c.7312_7313insT (p.Gln2438LeufsTer5) c.148_149insT (p.Gln50LeufsTer5) c.246_247insT n.7681_7682insT c.7585_7586insT (p.Gln2529LeufsTer5) | ClinVar dbSNP |
13 | g.32357806A= | CA2082818201 | BRCA2 | c.7682A= (p.Gln2561=) c.7313A= (p.Gln2438=) c.149A= (p.Gln50=) c.247A= n.7682A= c.7586A= (p.Gln2529=) | |
13 | g.32357806A>C | CA387745132 | BRCA2 | c.7682A>C (p.Gln2561Pro) c.7313A>C (p.Gln2438Pro) c.149A>C (p.Gln50Pro) c.247A>C n.7682A>C c.7586A>C (p.Gln2529Pro) | ClinVar dbSNP |
13 | g.32357806A>G | CA336029 | BRCA2 | c.7682A>G (p.Gln2561Arg) c.7313A>G (p.Gln2438Arg) c.149A>G (p.Gln50Arg) c.247A>G n.7682A>G c.7586A>G (p.Gln2529Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357806A>T | CA387745129 | BRCA2 | c.7682A>T (p.Gln2561Leu) c.7313A>T (p.Gln2438Leu) c.149A>T (p.Gln50Leu) c.247A>T n.7682A>T c.7586A>T (p.Gln2529Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32357806_32357808delinsAGT | CA2082818206 | BRCA2 | c.7682_7684delinsAGT (p.Gln2561=) c.7313_7315delinsAGT (p.Gln2438=) c.149_151delinsAGT (p.Gln50=) c.247_249delinsAGT n.7682_7684delinsAGT c.7586_7588delinsAGT (p.Gln2529=) | |
13 | g.32357807G>A | CA025229 | BRCA2 | c.7683G>A (p.Gln2561=) c.7314G>A (p.Gln2438=) c.150G>A (p.Gln50=) c.248G>A n.7683G>A c.7587G>A (p.Gln2529=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357807G>C | CA10579748 | BRCA2 | c.7683G>C (p.Gln2561His) c.7314G>C (p.Gln2438His) c.150G>C (p.Gln50His) c.248G>C n.7683G>C c.7587G>C (p.Gln2529His) | ClinVar dbSNP |
13 | g.32357807G= | CA2082818223 | BRCA2 | c.7683G= (p.Gln2561=) c.7314G= (p.Gln2438=) c.150G= (p.Gln50=) c.248G= n.7683G= c.7587G= (p.Gln2529=) | |
13 | g.32357807G>T | CA387745144 | BRCA2 | c.7683G>T (p.Gln2561His) c.7314G>T (p.Gln2438His) c.150G>T (p.Gln50His) c.248G>T n.7683G>T c.7587G>T (p.Gln2529His) | |
13 | g.32357807_32357808del | CA6941131 | BRCA2 | c.7683_7684del (p.Gln2561HisfsTer4) c.7314_7315del (p.Gln2438HisfsTer4) c.150_151del (p.Gln50HisfsTer4) c.248_249del n.7683_7684del c.7587_7588del (p.Gln2529HisfsTer4) | ClinVar dbSNP ExAC |
13 | g.32357808T>A | CA387745150 | BRCA2 | c.7684T>A (p.Phe2562Ile) c.7315T>A (p.Phe2439Ile) c.151T>A (p.Phe51Ile) c.249T>A n.7684T>A c.7588T>A (p.Phe2530Ile) | ClinVar dbSNP |
13 | g.32357808T>C | CA025230 | BRCA2 | c.7684T>C (p.Phe2562Leu) c.7315T>C (p.Phe2439Leu) c.151T>C (p.Phe51Leu) c.249T>C n.7684T>C c.7588T>C (p.Phe2530Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357808T>G | CA025231 | BRCA2 | c.7684T>G (p.Phe2562Val) c.7315T>G (p.Phe2439Val) c.151T>G (p.Phe51Val) c.249T>G n.7684T>G c.7588T>G (p.Phe2530Val) | ClinVar dbSNP |
13 | g.32357808T= | CA2082818243 | BRCA2 | c.7684T= (p.Phe2562=) c.7315T= (p.Phe2439=) c.151T= (p.Phe51=) c.249T= n.7684T= c.7588T= (p.Phe2530=) | |
13 | g.32357809T>A | CA387745152 | BRCA2 | c.7685T>A (p.Phe2562Tyr) c.7316T>A (p.Phe2439Tyr) c.152T>A (p.Phe51Tyr) c.250T>A n.7685T>A c.7589T>A (p.Phe2530Tyr) | dbSNP |
13 | g.32357809T>C | CA387745154 | BRCA2 | c.7685T>C (p.Phe2562Ser) c.7316T>C (p.Phe2439Ser) c.152T>C (p.Phe51Ser) c.250T>C n.7685T>C c.7589T>C (p.Phe2530Ser) | |
13 | g.32357809T>G | CA025232 | BRCA2 | c.7685T>G (p.Phe2562Cys) c.7316T>G (p.Phe2439Cys) c.152T>G (p.Phe51Cys) c.250T>G n.7685T>G c.7589T>G (p.Phe2530Cys) | ClinVar dbSNP |
13 | g.32357809T= | CA2082818253 | BRCA2 | c.7685T= (p.Phe2562=) c.7316T= (p.Phe2439=) c.152T= (p.Phe51=) c.250T= n.7685T= c.7589T= (p.Phe2530=) | |
13 | g.32357810T>A | CA387745159 | BRCA2 | c.7686T>A (p.Phe2562Leu) c.7317T>A (p.Phe2439Leu) c.153T>A (p.Phe51Leu) c.251T>A n.7686T>A c.7590T>A (p.Phe2530Leu) | |
13 | g.32357810T>C | CA483439180 | BRCA2 | c.7686T>C (p.Phe2562=) c.7317T>C (p.Phe2439=) c.153T>C (p.Phe51=) c.251T>C n.7686T>C c.7590T>C (p.Phe2530=) | |
13 | g.32357810T>G | CA387745161 | BRCA2 | c.7686T>G (p.Phe2562Leu) c.7317T>G (p.Phe2439Leu) c.153T>G (p.Phe51Leu) c.251T>G n.7686T>G c.7590T>G (p.Phe2530Leu) | ClinVar dbSNP |
13 | g.32357811C>A | CA387745165 | BRCA2 | c.7687C>A (p.His2563Asn) c.7318C>A (p.His2440Asn) c.154C>A (p.His52Asn) c.252C>A n.7687C>A c.7591C>A (p.His2531Asn) | |
13 | g.32357811C>G | CA387745163 | BRCA2 | c.7687C>G (p.His2563Asp) c.7318C>G (p.His2440Asp) c.154C>G (p.His52Asp) c.252C>G n.7687C>G c.7591C>G (p.His2531Asp) | |
13 | g.32357811C>T | CA387745162 | BRCA2 | c.7687C>T (p.His2563Tyr) c.7318C>T (p.His2440Tyr) c.154C>T (p.His52Tyr) c.252C>T n.7687C>T c.7591C>T (p.His2531Tyr) | ClinVar dbSNP |
13 | g.32357814_32357815del | CA2580614660 | BRCA2 | c.7690_7691del (p.Thr2564Ter) c.7321_7322del (p.Thr2441Ter) c.157_158del (p.Thr53Ter) c.255_256del n.7690_7691del c.7594_7595del (p.Thr2532Ter) | ClinVar |
13 | g.32357812A>C | CA387745168 | BRCA2 | c.7688A>C (p.His2563Pro) c.7319A>C (p.His2440Pro) c.155A>C (p.His52Pro) c.253A>C n.7688A>C c.7592A>C (p.His2531Pro) | |
13 | g.32357812A>G | CA387745173 | BRCA2 | c.7688A>G (p.His2563Arg) c.7319A>G (p.His2440Arg) c.155A>G (p.His52Arg) c.253A>G n.7688A>G c.7592A>G (p.His2531Arg) | gnomAD v4 |
13 | g.32357812A>T | CA387745174 | BRCA2 | c.7688A>T (p.His2563Leu) c.7319A>T (p.His2440Leu) c.155A>T (p.His52Leu) c.253A>T n.7688A>T c.7592A>T (p.His2531Leu) | dbSNP |
13 | g.32357812_32357813delinsAC | CA2082818264 | BRCA2 | c.7688_7689delinsAC (p.His2563=) c.7319_7320delinsAC (p.His2440=) c.155_156delinsAC (p.His52=) c.253_254delinsAC n.7688_7689delinsAC c.7592_7593delinsAC (p.His2531=) | |
13 | g.32357813del | CA025233 | BRCA2 | c.7689del (p.His2563GlnfsTer?) c.7320del (p.His2440GlnfsTer?) c.156del (p.His52GlnfsTer?) c.254del n.7689del c.7593del (p.His2531GlnfsTer?) | ClinVar dbSNP |
13 | g.32357813C>A | CA387745176 | BRCA2 | c.7689C>A (p.His2563Gln) c.7320C>A (p.His2440Gln) c.156C>A (p.His52Gln) c.254C>A n.7689C>A c.7593C>A (p.His2531Gln) | dbSNP |
13 | g.32357813C= | CA2082818274 | BRCA2 | c.7689C= (p.His2563=) c.7320C= (p.His2440=) c.156C= (p.His52=) c.254C= n.7689C= c.7593C= (p.His2531=) | |
13 | g.32357813C>G | CA387745178 | BRCA2 | c.7689C>G (p.His2563Gln) c.7320C>G (p.His2440Gln) c.156C>G (p.His52Gln) c.254C>G n.7689C>G c.7593C>G (p.His2531Gln) | dbSNP |
13 | g.32357813C>T | CA10583135 | BRCA2 | c.7689C>T (p.His2563=) c.7320C>T (p.His2440=) c.156C>T (p.His52=) c.254C>T n.7689C>T c.7593C>T (p.His2531=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357814A= | CA2082818279 | BRCA2 | c.7690A= (p.Thr2564=) c.7321A= (p.Thr2441=) c.157A= (p.Thr53=) c.255A= n.7690A= c.7594A= (p.Thr2532=) | |
13 | g.32357814A>C | CA387745185 | BRCA2 | c.7690A>C (p.Thr2564Pro) c.7321A>C (p.Thr2441Pro) c.157A>C (p.Thr53Pro) c.255A>C n.7690A>C c.7594A>C (p.Thr2532Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32357814A>G | CA387745187 | BRCA2 | c.7690A>G (p.Thr2564Ala) c.7321A>G (p.Thr2441Ala) c.157A>G (p.Thr53Ala) c.255A>G n.7690A>G c.7594A>G (p.Thr2532Ala) | |
13 | g.32357814A>T | CA387745188 | BRCA2 | c.7690A>T (p.Thr2564Ser) c.7321A>T (p.Thr2441Ser) c.157A>T (p.Thr53Ser) c.255A>T n.7690A>T c.7594A>T (p.Thr2532Ser) | dbSNP |
13 | g.32357815C>A | CA387745191 | BRCA2 | c.7691C>A (p.Thr2564Asn) c.7322C>A (p.Thr2441Asn) c.158C>A (p.Thr53Asn) c.256C>A n.7691C>A c.7595C>A (p.Thr2532Asn) | dbSNP |
13 | g.32357815C= | CA2082818287 | BRCA2 | c.7691C= (p.Thr2564=) c.7322C= (p.Thr2441=) c.158C= (p.Thr53=) c.256C= n.7691C= c.7595C= (p.Thr2532=) | |
13 | g.32357815C>G | CA6941132 | BRCA2 | c.7691C>G (p.Thr2564Ser) c.7322C>G (p.Thr2441Ser) c.158C>G (p.Thr53Ser) c.256C>G n.7691C>G c.7595C>G (p.Thr2532Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357815C>T | CA025234 | BRCA2 | c.7691C>T (p.Thr2564Ile) c.7322C>T (p.Thr2441Ile) c.158C>T (p.Thr53Ile) c.256C>T n.7691C>T c.7595C>T (p.Thr2532Ile) | ClinVar dbSNP |
13 | g.32357816T>A | CA483439185 | BRCA2 | c.7692T>A (p.Thr2564=) c.7323T>A (p.Thr2441=) c.159T>A (p.Thr53=) c.257T>A n.7692T>A c.7596T>A (p.Thr2532=) | dbSNP gnomAD v2 |
13 | g.32357816T>C | CA483439187 | BRCA2 | c.7692T>C (p.Thr2564=) c.7323T>C (p.Thr2441=) c.159T>C (p.Thr53=) c.257T>C n.7692T>C c.7596T>C (p.Thr2532=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357816T>G | CA483439186 | BRCA2 | c.7692T>G (p.Thr2564=) c.7323T>G (p.Thr2441=) c.159T>G (p.Thr53=) c.257T>G n.7692T>G c.7596T>G (p.Thr2532=) | ClinVar |
13 | g.32357816T= | CA2082818295 | BRCA2 | c.7692T= (p.Thr2564=) c.7323T= (p.Thr2441=) c.159T= (p.Thr53=) c.257T= n.7692T= c.7596T= (p.Thr2532=) | |
13 | g.32357817G>A | CA6941133 | BRCA2 | c.7693G>A (p.Glu2565Lys) c.7324G>A (p.Glu2442Lys) c.160G>A (p.Glu54Lys) c.258G>A n.7693G>A c.7597G>A (p.Glu2533Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357817G>C | CA387745197 | BRCA2 | c.7693G>C (p.Glu2565Gln) c.7324G>C (p.Glu2442Gln) c.160G>C (p.Glu54Gln) c.258G>C n.7693G>C c.7597G>C (p.Glu2533Gln) | dbSNP |
13 | g.32357817G= | CA2082818301 | BRCA2 | c.7693G= (p.Glu2565=) c.7324G= (p.Glu2442=) c.160G= (p.Glu54=) c.258G= n.7693G= c.7597G= (p.Glu2533=) | |
13 | g.32357817G>T | CA387745194 | BRCA2 | c.7693G>T (p.Glu2565Ter) c.7324G>T (p.Glu2442Ter) c.160G>T (p.Glu54Ter) c.258G>T n.7693G>T c.7597G>T (p.Glu2533Ter) | |
13 | g.32357818A>C | CA387745204 | BRCA2 | c.7694A>C (p.Glu2565Ala) c.7325A>C (p.Glu2442Ala) c.161A>C (p.Glu54Ala) c.259A>C n.7694A>C c.7598A>C (p.Glu2533Ala) | gnomAD v4 |
13 | g.32357818A>G | CA387745202 | BRCA2 | c.7694A>G (p.Glu2565Gly) c.7325A>G (p.Glu2442Gly) c.161A>G (p.Glu54Gly) c.259A>G n.7694A>G c.7598A>G (p.Glu2533Gly) | |
13 | g.32357818A>T | CA387745203 | BRCA2 | c.7694A>T (p.Glu2565Val) c.7325A>T (p.Glu2442Val) c.161A>T (p.Glu54Val) c.259A>T n.7694A>T c.7598A>T (p.Glu2533Val) | dbSNP |
13 | g.32357819A>C | CA387745205 | BRCA2 | c.7695A>C (p.Glu2565Asp) c.7326A>C (p.Glu2442Asp) c.162A>C (p.Glu54Asp) c.260A>C n.7695A>C c.7599A>C (p.Glu2533Asp) | |
13 | g.32357819A>G | CA483439188 | BRCA2 | c.7695A>G (p.Glu2565=) c.7326A>G (p.Glu2442=) c.162A>G (p.Glu54=) c.260A>G n.7695A>G c.7599A>G (p.Glu2533=) | |
13 | g.32357819A>T | CA387745206 | BRCA2 | c.7695A>T (p.Glu2565Asp) c.7326A>T (p.Glu2442Asp) c.162A>T (p.Glu54Asp) c.260A>T n.7695A>T c.7599A>T (p.Glu2533Asp) | |
13 | g.32357820G>A | CA387745208 | BRCA2 | c.7696G>A (p.Asp2566Asn) c.7327G>A (p.Asp2443Asn) c.163G>A (p.Asp55Asn) c.261G>A n.7696G>A c.7600G>A (p.Asp2534Asn) | ClinVar dbSNP |
13 | g.32357820G>C | CA387745209 | BRCA2 | c.7696G>C (p.Asp2566His) c.7327G>C (p.Asp2443His) c.163G>C (p.Asp55His) c.261G>C n.7696G>C c.7600G>C (p.Asp2534His) | dbSNP |
13 | g.32357820G= | CA2082818309 | BRCA2 | c.7696G= (p.Asp2566=) c.7327G= (p.Asp2443=) c.163G= (p.Asp55=) c.261G= n.7696G= c.7600G= (p.Asp2534=) | |
13 | g.32357820G>T | CA025235 | BRCA2 | c.7696G>T (p.Asp2566Tyr) c.7327G>T (p.Asp2443Tyr) c.163G>T (p.Asp55Tyr) c.261G>T n.7696G>T c.7600G>T (p.Asp2534Tyr) | ClinVar dbSNP gnomAD v4 |
13 | g.32357821A>C | CA387745216 | BRCA2 | c.7697A>C (p.Asp2566Ala) c.7328A>C (p.Asp2443Ala) c.164A>C (p.Asp55Ala) c.262A>C n.7697A>C c.7601A>C (p.Asp2534Ala) | |
13 | g.32357821A>G | CA387745220 | BRCA2 | c.7697A>G (p.Asp2566Gly) c.7328A>G (p.Asp2443Gly) c.164A>G (p.Asp55Gly) c.262A>G n.7697A>G c.7601A>G (p.Asp2534Gly) | ClinVar |
13 | g.32357821A>T | CA387745228 | BRCA2 | c.7697A>T (p.Asp2566Val) c.7328A>T (p.Asp2443Val) c.164A>T (p.Asp55Val) c.262A>T n.7697A>T c.7601A>T (p.Asp2534Val) | gnomAD v4 |
13 | g.32357821dup | CA025236 | BRCA2 | c.7697dup (p.Asp2566GlufsTer5) c.7328dup (p.Asp2443GlufsTer5) c.164dup (p.Asp55GlufsTer5) c.262dup n.7697dup c.7601dup (p.Asp2534GlufsTer5) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32357822T>A | CA387745232 | BRCA2 | c.7698T>A (p.Asp2566Glu) c.7329T>A (p.Asp2443Glu) c.165T>A (p.Asp55Glu) c.263T>A n.7698T>A c.7602T>A (p.Asp2534Glu) | dbSNP |
13 | g.32357822T>C | CA483439189 | BRCA2 | c.7698T>C (p.Asp2566=) c.7329T>C (p.Asp2443=) c.165T>C (p.Asp55=) c.263T>C n.7698T>C c.7602T>C (p.Asp2534=) | |
13 | g.32357822T>G | CA387745234 | BRCA2 | c.7698T>G (p.Asp2566Glu) c.7329T>G (p.Asp2443Glu) c.165T>G (p.Asp55Glu) c.263T>G n.7698T>G c.7602T>G (p.Asp2534Glu) | ClinVar dbSNP |
13 | g.32357822T= | CA2082818324 | BRCA2 | c.7698T= (p.Asp2566=) c.7329T= (p.Asp2443=) c.165T= (p.Asp55=) c.263T= n.7698T= c.7602T= (p.Asp2534=) | |
13 | g.32357823T>A | CA387745242 | BRCA2 | c.7699T>A (p.Tyr2567Asn) c.7330T>A (p.Tyr2444Asn) c.166T>A (p.Tyr56Asn) c.264T>A n.7699T>A c.7603T>A (p.Tyr2535Asn) | |
13 | g.32357823T>C | CA387745237 | BRCA2 | c.7699T>C (p.Tyr2567His) c.7330T>C (p.Tyr2444His) c.166T>C (p.Tyr56His) c.264T>C n.7699T>C c.7603T>C (p.Tyr2535His) | ClinVar dbSNP |
13 | g.32357823T>G | CA387745240 | BRCA2 | c.7699T>G (p.Tyr2567Asp) c.7330T>G (p.Tyr2444Asp) c.166T>G (p.Tyr56Asp) c.264T>G n.7699T>G c.7603T>G (p.Tyr2535Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.32357823T= | CA2082818337 | BRCA2 | c.7699T= (p.Tyr2567=) c.7330T= (p.Tyr2444=) c.166T= (p.Tyr56=) c.264T= n.7699T= c.7603T= (p.Tyr2535=) | |
13 | g.32357824del | CA2580087341 | BRCA2 | c.7700del (p.Tyr2567PhefsTer?) c.7331del (p.Tyr2444PhefsTer?) c.167del (p.Tyr56PhefsTer?) c.265del n.7700del c.7604del (p.Tyr2535PhefsTer?) | ClinVar |
13 | g.32357824A= | CA2082818351 | BRCA2 | c.7700A= (p.Tyr2567=) c.7331A= (p.Tyr2444=) c.167A= (p.Tyr56=) c.265A= n.7700A= c.7604A= (p.Tyr2535=) | |
13 | g.32357824A>C | CA387745245 | BRCA2 | c.7700A>C (p.Tyr2567Ser) c.7331A>C (p.Tyr2444Ser) c.167A>C (p.Tyr56Ser) c.265A>C n.7700A>C c.7604A>C (p.Tyr2535Ser) | |
13 | g.32357824A>G | CA387745247 | BRCA2 | c.7700A>G (p.Tyr2567Cys) c.7331A>G (p.Tyr2444Cys) c.167A>G (p.Tyr56Cys) c.265A>G n.7700A>G c.7604A>G (p.Tyr2535Cys) | |
13 | g.32357824A>T | CA025237 | BRCA2 | c.7700A>T (p.Tyr2567Phe) c.7331A>T (p.Tyr2444Phe) c.167A>T (p.Tyr56Phe) c.265A>T n.7700A>T c.7604A>T (p.Tyr2535Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.32357825T>A | CA387745255 | BRCA2 | c.7701T>A (p.Tyr2567Ter) c.7332T>A (p.Tyr2444Ter) c.168T>A (p.Tyr56Ter) c.266T>A n.7701T>A c.7605T>A (p.Tyr2535Ter) | ClinVar dbSNP |
13 | g.32357825T>C | CA483439191 | BRCA2 | c.7701T>C (p.Tyr2567=) c.7332T>C (p.Tyr2444=) c.168T>C (p.Tyr56=) c.266T>C n.7701T>C c.7605T>C (p.Tyr2535=) | ClinVar dbSNP |
13 | g.32357825T>G | CA387745258 | BRCA2 | c.7701T>G (p.Tyr2567Ter) c.7332T>G (p.Tyr2444Ter) c.168T>G (p.Tyr56Ter) c.266T>G n.7701T>G c.7605T>G (p.Tyr2535Ter) | ClinVar dbSNP |
13 | g.32357825T= | CA2082818357 | BRCA2 | c.7701T= (p.Tyr2567=) c.7332T= (p.Tyr2444=) c.168T= (p.Tyr56=) c.266T= n.7701T= c.7605T= (p.Tyr2535=) | |
13 | g.32357828dup | CA2580087344 | BRCA2 | c.7704dup (p.Gly2569TrpfsTer2) c.7335dup (p.Gly2446TrpfsTer2) c.171dup (p.Gly58TrpfsTer2) c.269dup n.7704dup c.7608dup (p.Gly2537TrpfsTer2) | ClinVar |
13 | g.32357828del | CA2580087345 | BRCA2 | c.7704del (p.Phe2568LeufsTer?) c.7335del (p.Phe2445LeufsTer?) c.171del (p.Phe57LeufsTer?) c.269del n.7704del c.7608del (p.Phe2536LeufsTer?) | ClinVar |
13 | g.32357827_32357828del | CA2499222303 | BRCA2 | c.7703_7704del (p.Phe2568TrpfsTer2) c.7334_7335del (p.Phe2445TrpfsTer2) c.170_171del (p.Phe57TrpfsTer2) c.268_269del n.7703_7704del c.7607_7608del (p.Phe2536TrpfsTer2) | |
13 | g.32357826T>A | CA387745262 | BRCA2 | c.7702T>A (p.Phe2568Ile) c.7333T>A (p.Phe2445Ile) c.169T>A (p.Phe57Ile) c.267T>A n.7702T>A c.7606T>A (p.Phe2536Ile) | |
13 | g.32357826T>C | CA387745263 | BRCA2 | c.7702T>C (p.Phe2568Leu) c.7333T>C (p.Phe2445Leu) c.169T>C (p.Phe57Leu) c.267T>C n.7702T>C c.7606T>C (p.Phe2536Leu) | |
13 | g.32357826T>G | CA387745264 | BRCA2 | c.7702T>G (p.Phe2568Val) c.7333T>G (p.Phe2445Val) c.169T>G (p.Phe57Val) c.267T>G n.7702T>G c.7606T>G (p.Phe2536Val) | |
13 | g.32357826_32357827insG | CA2695217920 | BRCA2 | c.7702_7703insG (p.Phe2568CysfsTer3) c.7333_7334insG (p.Phe2445CysfsTer3) c.169_170insG (p.Phe57CysfsTer3) c.267_268insG n.7702_7703insG c.7606_7607insG (p.Phe2536CysfsTer3) | |
13 | g.32357827T>A | CA387745265 | BRCA2 | c.7703T>A (p.Phe2568Tyr) c.7334T>A (p.Phe2445Tyr) c.170T>A (p.Phe57Tyr) c.268T>A n.7703T>A c.7607T>A (p.Phe2536Tyr) | |
13 | g.32357827T>C | CA387745266 | BRCA2 | c.7703T>C (p.Phe2568Ser) c.7334T>C (p.Phe2445Ser) c.170T>C (p.Phe57Ser) c.268T>C n.7703T>C c.7607T>C (p.Phe2536Ser) | |
13 | g.32357827T>G | CA387745271 | BRCA2 | c.7703T>G (p.Phe2568Cys) c.7334T>G (p.Phe2445Cys) c.170T>G (p.Phe57Cys) c.268T>G n.7703T>G c.7607T>G (p.Phe2536Cys) | COSMIC COSMIC |
13 | g.32357828T>A | CA387745273 | BRCA2 | c.7704T>A (p.Phe2568Leu) c.7335T>A (p.Phe2445Leu) c.171T>A (p.Phe57Leu) c.269T>A n.7704T>A c.7608T>A (p.Phe2536Leu) | |
13 | g.32357828T>C | CA483439193 | BRCA2 | c.7704T>C (p.Phe2568=) c.7335T>C (p.Phe2445=) c.171T>C (p.Phe57=) c.269T>C n.7704T>C c.7608T>C (p.Phe2536=) | |
13 | g.32357828T>G | CA387745278 | BRCA2 | c.7704T>G (p.Phe2568Leu) c.7335T>G (p.Phe2445Leu) c.171T>G (p.Phe57Leu) c.269T>G n.7704T>G c.7608T>G (p.Phe2536Leu) | |
13 | g.32357828_32357829delinsTG | CA2082818366 | BRCA2 | c.7704_7705delinsTG (p.Phe2568=) c.7335_7336delinsTG (p.Phe2445=) c.171_172delinsTG (p.Phe57=) c.269_270delinsTG n.7704_7705delinsTG c.7608_7609delinsTG (p.Phe2536=) | |
13 | g.32357829G>A | CA387745284 | BRCA2 | c.7705G>A (p.Gly2569Ser) c.7336G>A (p.Gly2446Ser) c.172G>A (p.Gly58Ser) c.270G>A n.7705G>A c.7609G>A (p.Gly2537Ser) | ClinVar dbSNP |
13 | g.32357829G>C | CA387745290 | BRCA2 | c.7705G>C (p.Gly2569Arg) c.7336G>C (p.Gly2446Arg) c.172G>C (p.Gly58Arg) c.270G>C n.7705G>C c.7609G>C (p.Gly2537Arg) | dbSNP |
13 | g.32357829G= | CA2082818377 | BRCA2 | c.7705G= (p.Gly2569=) c.7336G= (p.Gly2446=) c.172G= (p.Gly58=) c.270G= n.7705G= c.7609G= (p.Gly2537=) | |
13 | g.32357829G>T | CA387745286 | BRCA2 | c.7705G>T (p.Gly2569Cys) c.7336G>T (p.Gly2446Cys) c.172G>T (p.Gly58Cys) c.270G>T n.7705G>T c.7609G>T (p.Gly2537Cys) | ClinVar dbSNP |
13 | g.32357830del | CA10586580 | BRCA2 | c.7706del (p.Gly2569ValfsTer?) c.7337del (p.Gly2446ValfsTer?) c.173del (p.Gly58ValfsTer?) c.271del n.7706del c.7610del (p.Gly2537ValfsTer?) | ClinVar dbSNP |
13 | g.32357829_32357838delinsGGTAAGGAAA | CA2082818379 | BRCA2 | c.7705_7714delinsGGTAAGGAAA (p.Gly2569=) c.7336_7345delinsGGTAAGGAAA (p.Gly2446=) c.172_181delinsGGTAAGGAAA (p.Gly58=) c.270_279delinsGGTAAGGAAA n.7705_7714delinsGGTAAGGAAA c.7609_7618delinsGGTAAGGAAA (p.Gly2537=) | |
13 | g.32357830G>A | CA025238 | BRCA2 | c.7706G>A (p.Gly2569Asp) c.7337G>A (p.Gly2446Asp) c.173G>A (p.Gly58Asp) c.271G>A n.7706G>A c.7610G>A (p.Gly2537Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357830G>C | CA387745306 | BRCA2 | c.7706G>C (p.Gly2569Ala) c.7337G>C (p.Gly2446Ala) c.173G>C (p.Gly58Ala) c.271G>C n.7706G>C c.7610G>C (p.Gly2537Ala) | dbSNP |
13 | g.32357830G= | CA2082818386 | BRCA2 | c.7706G= (p.Gly2569=) c.7337G= (p.Gly2446=) c.173G= (p.Gly58=) c.271G= n.7706G= c.7610G= (p.Gly2537=) | |
13 | g.32357830G>T | CA387745313 | BRCA2 | c.7706G>T (p.Gly2569Val) c.7337G>T (p.Gly2446Val) c.173G>T (p.Gly58Val) c.271G>T n.7706G>T c.7610G>T (p.Gly2537Val) | dbSNP |
13 | g.32357830_32357831delinsGT | CA2082818385 | BRCA2 | c.7706_7707delinsGT (p.Gly2569=) c.7337_7338delinsGT (p.Gly2446=) c.173_174delinsGT (p.Gly58=) c.271_272delinsGT n.7706_7707delinsGT c.7610_7611delinsGT (p.Gly2537=) | |
13 | g.32357832_32357840del | CA6941134 | BRCA2 | c.7708_7716del (p.Lys2570_Ser2572del) c.7339_7347del (p.Lys2447_Ser2449del) c.175_183del (p.Lys59_Ser61del) c.273_281del n.7708_7716del c.7612_7620del (p.Lys2538_Ser2540del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32357831del | CA025239 | BRCA2 | c.7707del (p.Lys2570ArgfsTer?) c.7338del (p.Lys2447ArgfsTer?) c.174del (p.Lys59ArgfsTer?) c.272del n.7707del c.7611del (p.Lys2538ArgfsTer?) | ClinVar dbSNP |
13 | g.32357831T>A | CA483439196 | BRCA2 | c.7707T>A (p.Gly2569=) c.7338T>A (p.Gly2446=) c.174T>A (p.Gly58=) c.272T>A n.7707T>A c.7611T>A (p.Gly2537=) | |
13 | g.32357831T>C | CA483439194 | BRCA2 | c.7707T>C (p.Gly2569=) c.7338T>C (p.Gly2446=) c.174T>C (p.Gly58=) c.272T>C n.7707T>C c.7611T>C (p.Gly2537=) | |
13 | g.32357831T>G | CA483439195 | BRCA2 | c.7707T>G (p.Gly2569=) c.7338T>G (p.Gly2446=) c.174T>G (p.Gly58=) c.272T>G n.7707T>G c.7611T>G (p.Gly2537=) | |
13 | g.32357832A= | CA2082818402 | BRCA2 | c.7708A= (p.Lys2570=) c.7339A= (p.Lys2447=) c.175A= (p.Lys59=) c.273A= n.7708A= c.7612A= (p.Lys2538=) | |
13 | g.32357832A>C | CA387745321 | BRCA2 | c.7708A>C (p.Lys2570Gln) c.7339A>C (p.Lys2447Gln) c.175A>C (p.Lys59Gln) c.273A>C n.7708A>C c.7612A>C (p.Lys2538Gln) | |
13 | g.32357832A>G | CA10579749 | BRCA2 | c.7708A>G (p.Lys2570Glu) c.7339A>G (p.Lys2447Glu) c.175A>G (p.Lys59Glu) c.273A>G n.7708A>G c.7612A>G (p.Lys2538Glu) | ClinVar dbSNP |
13 | g.32357832A>T | CA10589447 | BRCA2 | c.7708A>T (p.Lys2570Ter) c.7339A>T (p.Lys2447Ter) c.175A>T (p.Lys59Ter) c.273A>T n.7708A>T c.7612A>T (p.Lys2538Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32357833A= | CA2082818413 | BRCA2 | c.7709A= (p.Lys2570=) c.7340A= (p.Lys2447=) c.176A= (p.Lys59=) c.274A= n.7709A= c.7613A= (p.Lys2538=) | |
13 | g.32357833A>C | CA387745328 | BRCA2 | c.7709A>C (p.Lys2570Thr) c.7340A>C (p.Lys2447Thr) c.176A>C (p.Lys59Thr) c.274A>C n.7709A>C c.7613A>C (p.Lys2538Thr) | gnomAD v4 |
13 | g.32357833A>G | CA025240 | BRCA2 | c.7709A>G (p.Lys2570Arg) c.7340A>G (p.Lys2447Arg) c.176A>G (p.Lys59Arg) c.274A>G n.7709A>G c.7613A>G (p.Lys2538Arg) | ClinVar dbSNP |
13 | g.32357833A>T | CA387745334 | BRCA2 | c.7709A>T (p.Lys2570Met) c.7340A>T (p.Lys2447Met) c.176A>T (p.Lys59Met) c.274A>T n.7709A>T c.7613A>T (p.Lys2538Met) | dbSNP |
13 | g.32357834G>A | CA483439198 | BRCA2 | c.7710G>A (p.Lys2570=) c.7341G>A (p.Lys2447=) c.177G>A (p.Lys59=) c.275G>A n.7710G>A c.7614G>A (p.Lys2538=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357834G>C | CA387745335 | BRCA2 | c.7710G>C (p.Lys2570Asn) c.7341G>C (p.Lys2447Asn) c.177G>C (p.Lys59Asn) c.275G>C n.7710G>C c.7614G>C (p.Lys2538Asn) | ClinVar dbSNP |
13 | g.32357834G>T | CA387745336 | BRCA2 | c.7710G>T (p.Lys2570Asn) c.7341G>T (p.Lys2447Asn) c.177G>T (p.Lys59Asn) c.275G>T n.7710G>T c.7614G>T (p.Lys2538Asn) | |
13 | g.32357835dup | CA2695199706 | BRCA2 | c.7711dup (p.Glu2571GlyfsTer13) c.7342dup (p.Glu2448GlyfsTer13) c.178dup (p.Glu60GlyfsTer13) c.276dup n.7711dup c.7615dup (p.Glu2539GlyfsTer13) | ClinVar |
13 | g.32357835G>A | CA10579750 | BRCA2 | c.7711G>A (p.Glu2571Lys) c.7342G>A (p.Glu2448Lys) c.178G>A (p.Glu60Lys) c.276G>A n.7711G>A c.7615G>A (p.Glu2539Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32357835G>C | CA387745347 | BRCA2 | c.7711G>C (p.Glu2571Gln) c.7342G>C (p.Glu2448Gln) c.178G>C (p.Glu60Gln) c.276G>C n.7711G>C c.7615G>C (p.Glu2539Gln) | dbSNP |
13 | g.32357835G= | CA2082818420 | BRCA2 | c.7711G= (p.Glu2571=) c.7342G= (p.Glu2448=) c.178G= (p.Glu60=) c.276G= n.7711G= c.7615G= (p.Glu2539=) | |
13 | g.32357835G>T | CA387745341 | BRCA2 | c.7711G>T (p.Glu2571Ter) c.7342G>T (p.Glu2448Ter) c.178G>T (p.Glu60Ter) c.276G>T n.7711G>T c.7615G>T (p.Glu2539Ter) | dbSNP |
13 | g.32357836A= | CA2082818428 | BRCA2 | c.7712A= (p.Glu2571=) c.7343A= (p.Glu2448=) c.179A= (p.Glu60=) c.277A= n.7712A= c.7616A= (p.Glu2539=) | |
13 | g.32357836A>C | CA387745363 | BRCA2 | c.7712A>C (p.Glu2571Ala) c.7343A>C (p.Glu2448Ala) c.179A>C (p.Glu60Ala) c.277A>C n.7712A>C c.7616A>C (p.Glu2539Ala) | dbSNP |
13 | g.32357836A>G | CA025242 | BRCA2 | c.7712A>G (p.Glu2571Gly) c.7343A>G (p.Glu2448Gly) c.179A>G (p.Glu60Gly) c.277A>G n.7712A>G c.7616A>G (p.Glu2539Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32357836A>T | CA387745364 | BRCA2 | c.7712A>T (p.Glu2571Val) c.7343A>T (p.Glu2448Val) c.179A>T (p.Glu60Val) c.277A>T n.7712A>T c.7616A>T (p.Glu2539Val) | ClinVar dbSNP |
13 | g.32357837A>C | CA387745365 | BRCA2 | c.7713A>C (p.Glu2571Asp) c.7344A>C (p.Glu2448Asp) c.180A>C (p.Glu60Asp) c.278A>C n.7713A>C c.7617A>C (p.Glu2539Asp) | |
13 | g.32357837A>G | CA483439202 | BRCA2 | c.7713A>G (p.Glu2571=) c.7344A>G (p.Glu2448=) c.180A>G (p.Glu60=) c.278A>G n.7713A>G c.7617A>G (p.Glu2539=) | ClinVar |
13 | g.32357837A>T | CA387745366 | BRCA2 | c.7713A>T (p.Glu2571Asp) c.7344A>T (p.Glu2448Asp) c.180A>T (p.Glu60Asp) c.278A>T n.7713A>T c.7617A>T (p.Glu2539Asp) | |
13 | g.32357838A= | CA2082818439 | BRCA2 | c.7714A= (p.Ser2572=) c.7345A= (p.Ser2449=) c.181A= (p.Ser61=) c.279A= n.7714A= c.7618A= (p.Ser2540=) | |
13 | g.32357838A>C | CA16614353 | BRCA2 | c.7714A>C (p.Ser2572Arg) c.7345A>C (p.Ser2449Arg) c.181A>C (p.Ser61Arg) c.279A>C n.7714A>C c.7618A>C (p.Ser2540Arg) | ClinVar dbSNP |
13 | g.32357838A>G | CA387745375 | BRCA2 | c.7714A>G (p.Ser2572Gly) c.7345A>G (p.Ser2449Gly) c.181A>G (p.Ser61Gly) c.279A>G n.7714A>G c.7618A>G (p.Ser2540Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32357838A>T | CA387745377 | BRCA2 | c.7714A>T (p.Ser2572Cys) c.7345A>T (p.Ser2449Cys) c.181A>T (p.Ser61Cys) c.279A>T n.7714A>T c.7618A>T (p.Ser2540Cys) | |
13 | g.32357839G>A | CA387745382 | BRCA2 | c.7715G>A (p.Ser2572Asn) c.7346G>A (p.Ser2449Asn) c.182G>A (p.Ser61Asn) c.280G>A n.7715G>A c.7619G>A (p.Ser2540Asn) | ClinVar dbSNP |
13 | g.32357839G>C | CA387745395 | BRCA2 | c.7715G>C (p.Ser2572Thr) c.7346G>C (p.Ser2449Thr) c.182G>C (p.Ser61Thr) c.280G>C n.7715G>C c.7619G>C (p.Ser2540Thr) | |
13 | g.32357839G= | CA2082818445 | BRCA2 | c.7715G= (p.Ser2572=) c.7346G= (p.Ser2449=) c.182G= (p.Ser61=) c.280G= n.7715G= c.7619G= (p.Ser2540=) | |
13 | g.32357839G>T | CA387745396 | BRCA2 | c.7715G>T (p.Ser2572Ile) c.7346G>T (p.Ser2449Ile) c.182G>T (p.Ser61Ile) c.280G>T n.7715G>T c.7619G>T (p.Ser2540Ile) | |
13 | g.32357840T>A | CA387745406 | BRCA2 | c.7716T>A (p.Ser2572Arg) c.7347T>A (p.Ser2449Arg) c.183T>A (p.Ser61Arg) c.281T>A n.7716T>A c.7620T>A (p.Ser2540Arg) | dbSNP |
13 | g.32357840T>C | CA483439203 | BRCA2 | c.7716T>C (p.Ser2572=) c.7347T>C (p.Ser2449=) c.183T>C (p.Ser61=) c.281T>C n.7716T>C c.7620T>C (p.Ser2540=) | ClinVar dbSNP |
13 | g.32357840T>G | CA387745401 | BRCA2 | c.7716T>G (p.Ser2572Arg) c.7347T>G (p.Ser2449Arg) c.183T>G (p.Ser61Arg) c.281T>G n.7716T>G c.7620T>G (p.Ser2540Arg) | dbSNP |
13 | g.32357840T= | CA2082818449 | BRCA2 | c.7716T= (p.Ser2572=) c.7347T= (p.Ser2449=) c.183T= (p.Ser61=) c.281T= n.7716T= c.7620T= (p.Ser2540=) | |
13 | g.32357842del | CA2580087353 | BRCA2 | c.7718del (p.Leu2573TyrfsTer?) c.7349del (p.Leu2450TyrfsTer?) c.185del (p.Leu62TyrfsTer?) c.283del n.7718del c.7622del (p.Leu2541TyrfsTer?) | ClinVar |
13 | g.32357841_32357842del | CA2573149410 | BRCA2 | c.7717_7718del (p.Leu2573MetfsTer10) c.7348_7349del (p.Leu2450MetfsTer10) c.184_185del (p.Leu62MetfsTer10) c.282_283del n.7717_7718del c.7621_7622del (p.Leu2541MetfsTer10) | ClinVar dbSNP |