Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32359467_32364093del | CA2580087377 | BRCA2 | c.7805+1538_8331+560del c.7436+1538_7962+560del c.272+1538_798+560del c.7805+1538_8339+560del c.370+1538_896+560del c.7709+1538_8235+560del | ClinVar |
13 | g.32362523_32362591del | CA2695217933 | BRCA2 | c.7806_7874del c.7437_7505del c.273_341del c.7814_7882del (p.Gly2605_Ile2627del) c.371_439del n.7814_7882del c.7710_7778del | |
13 | g.32362524_32362624del | CA913203499 | BRCA2 | c.7807_7907del (p.Ala2603CysfsTer4) c.7438_7538del (p.Ala2480CysfsTer4) c.274_374del (p.Ala92CysfsTer4) c.7815_7915del (p.Leu2606AlafsTer?) c.372_472del n.7815_7915del c.7711_7811del (p.Ala2571CysfsTer4) | |
13 | g.32362536_32362537del | CA2580614673 | BRCA2 | c.7819_7820del (p.Thr2607SerfsTer10) c.7450_7451del (p.Thr2484SerfsTer10) c.286_287del (p.Thr96SerfsTer10) c.7827_7828del (p.Leu2610ProfsTer?) c.384_385del n.7827_7828del c.7723_7724del (p.Thr2575SerfsTer10) | ClinVar dbSNP |
13 | g.32362536_32362538delinsCCC | CA2825002142 | BRCA2 | c.7819_7821delinsCCC (p.Thr2607Pro) c.7450_7452delinsCCC (p.Thr2484Pro) c.286_288delinsCCC (p.Thr96Pro) c.7827_7829delinsCCC (p.Leu2610Pro) c.384_386delinsCCC n.7827_7829delinsCCC c.7723_7725delinsCCC (p.Thr2575Pro) | ClinVar |
13 | g.32362537C>A | CA387746981 | BRCA2 | c.7820C>A (p.Thr2607Asn) c.7451C>A (p.Thr2484Asn) c.287C>A (p.Thr96Asn) c.7828C>A (p.Leu2610Ile) c.385C>A n.7828C>A c.7724C>A (p.Thr2575Asn) | |
13 | g.32362537C= | CA2082830453 | BRCA2 | c.7820C= (p.Thr2607=) c.7451C= (p.Thr2484=) c.287C= (p.Thr96=) c.7828C= (p.Leu2610=) c.385C= n.7828C= c.7724C= (p.Thr2575=) | |
13 | g.32362537C>G | CA387746984 | BRCA2 | c.7820C>G (p.Thr2607Ser) c.7451C>G (p.Thr2484Ser) c.287C>G (p.Thr96Ser) c.7828C>G (p.Leu2610Val) c.385C>G n.7828C>G c.7724C>G (p.Thr2575Ser) | dbSNP |
13 | g.32362537C>T | CA387746983 | BRCA2 | c.7820C>T (p.Thr2607Ile) c.7451C>T (p.Thr2484Ile) c.287C>T (p.Thr96Ile) c.7828C>T (p.Leu2610Phe) c.385C>T n.7828C>T c.7724C>T (p.Thr2575Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32362538del | CA483260813 | BRCA2 | c.7821del (p.Pro2608GlnfsTer?) c.7452del (p.Pro2485GlnfsTer?) c.288del (p.Pro97GlnfsTer?) c.7829del (p.Leu2610ProfsTer10) c.386del n.7829del c.7725del (p.Pro2576GlnfsTer?) | COSMIC |
13 | g.32362538T>A | CA483260810 | BRCA2 | c.7821T>A (p.Thr2607=) c.7452T>A (p.Thr2484=) c.288T>A (p.Thr96=) c.7829T>A (p.Leu2610His) c.386T>A n.7829T>A c.7725T>A (p.Thr2575=) | |
13 | g.32362538T>C | CA483260811 | BRCA2 | c.7821T>C (p.Thr2607=) c.7452T>C (p.Thr2484=) c.288T>C (p.Thr96=) c.7829T>C (p.Leu2610Pro) c.386T>C n.7829T>C c.7725T>C (p.Thr2575=) | ClinVar dbSNP |
13 | g.32362538T>G | CA483260812 | BRCA2 | c.7821T>G (p.Thr2607=) c.7452T>G (p.Thr2484=) c.288T>G (p.Thr96=) c.7829T>G (p.Leu2610Arg) c.386T>G n.7829T>G c.7725T>G (p.Thr2575=) | |
13 | g.32362538T= | CA2082830471 | BRCA2 | c.7821T= (p.Thr2607=) c.7452T= (p.Thr2484=) c.288T= (p.Thr96=) c.7829T= (p.Leu2610=) c.386T= n.7829T= c.7725T= (p.Thr2575=) | |
13 | g.32362539C>A | CA387746987 | BRCA2 | c.7822C>A (p.Pro2608Thr) c.7453C>A (p.Pro2485Thr) c.289C>A (p.Pro97Thr) c.7830C>A (p.Leu2610=) c.387C>A n.7830C>A c.7726C>A (p.Pro2576Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362539C= | CA2082830486 | BRCA2 | c.7822C= (p.Pro2608=) c.7453C= (p.Pro2485=) c.289C= (p.Pro97=) c.7830C= (p.Leu2610=) c.387C= n.7830C= c.7726C= (p.Pro2576=) | |
13 | g.32362539C>G | CA10585900 | BRCA2 | c.7822C>G (p.Pro2608Ala) c.7453C>G (p.Pro2485Ala) c.289C>G (p.Pro97Ala) c.7830C>G (p.Leu2610=) c.387C>G n.7830C>G c.7726C>G (p.Pro2576Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362539C>T | CA387746989 | BRCA2 | c.7822C>T (p.Pro2608Ser) c.7453C>T (p.Pro2485Ser) c.289C>T (p.Pro97Ser) c.7830C>T (p.Leu2610=) c.387C>T n.7830C>T c.7726C>T (p.Pro2576Ser) | dbSNP COSMIC COSMIC |
13 | g.32362540dup | CA16614005 | BRCA2 | c.7823dup (p.Gly2609ArgfsTer9) c.7454dup (p.Gly2486ArgfsTer9) c.290dup (p.Gly98ArgfsTer9) c.7831dup (p.Gln2611ProfsTer?) c.388dup n.7831dup c.7727dup (p.Gly2577ArgfsTer9) | ClinVar dbSNP |
13 | g.32362540C>A | CA387746992 | BRCA2 | c.7823C>A (p.Pro2608Gln) c.7454C>A (p.Pro2485Gln) c.290C>A (p.Pro97Gln) c.7831C>A (p.Gln2611Lys) c.388C>A n.7831C>A c.7727C>A (p.Pro2576Gln) | ClinVar dbSNP gnomAD v4 |
13 | g.32362540C= | CA2082830501 | BRCA2 | c.7823C= (p.Pro2608=) c.7454C= (p.Pro2485=) c.290C= (p.Pro97=) c.7831C= (p.Gln2611=) c.388C= n.7831C= c.7727C= (p.Pro2576=) | |
13 | g.32362540C>G | CA387746995 | BRCA2 | c.7823C>G (p.Pro2608Arg) c.7454C>G (p.Pro2485Arg) c.290C>G (p.Pro97Arg) c.7831C>G (p.Gln2611Glu) c.388C>G n.7831C>G c.7727C>G (p.Pro2576Arg) | dbSNP |
13 | g.32362540C>T | CA387746994 | BRCA2 | c.7823C>T (p.Pro2608Leu) c.7454C>T (p.Pro2485Leu) c.290C>T (p.Pro97Leu) c.7831C>T (p.Gln2611Ter) c.388C>T n.7831C>T c.7727C>T (p.Pro2576Leu) | ClinVar dbSNP |
13 | g.32362541A>C | CA483260814 | BRCA2 | c.7824A>C (p.Pro2608=) c.7455A>C (p.Pro2485=) c.291A>C (p.Pro97=) c.7832A>C (p.Gln2611Pro) c.389A>C n.7832A>C c.7728A>C (p.Pro2576=) | |
13 | g.32362541A>G | CA483260815 | BRCA2 | c.7824A>G (p.Pro2608=) c.7455A>G (p.Pro2485=) c.291A>G (p.Pro97=) c.7832A>G (p.Gln2611Arg) c.389A>G n.7832A>G c.7728A>G (p.Pro2576=) | ClinVar dbSNP |
13 | g.32362541A>T | CA483260816 | BRCA2 | c.7824A>T (p.Pro2608=) c.7455A>T (p.Pro2485=) c.291A>T (p.Pro97=) c.7832A>T (p.Gln2611Leu) c.389A>T n.7832A>T c.7728A>T (p.Pro2576=) | dbSNP |
13 | g.32362542G>A | CA387746996 | BRCA2 | c.7825G>A (p.Gly2609Ser) c.7456G>A (p.Gly2486Ser) c.292G>A (p.Gly98Ser) c.7833G>A (p.Gln2611=) c.390G>A n.7833G>A c.7729G>A (p.Gly2577Ser) | ClinVar dbSNP |
13 | g.32362542G>C | CA387746997 | BRCA2 | c.7825G>C (p.Gly2609Arg) c.7456G>C (p.Gly2486Arg) c.292G>C (p.Gly98Arg) c.7833G>C (p.Gln2611His) c.390G>C n.7833G>C c.7729G>C (p.Gly2577Arg) | dbSNP |
13 | g.32362542G>T | CA387746998 | BRCA2 | c.7825G>T (p.Gly2609Cys) c.7456G>T (p.Gly2486Cys) c.292G>T (p.Gly98Cys) c.7833G>T (p.Gln2611His) c.390G>T n.7833G>T c.7729G>T (p.Gly2577Cys) | |
13 | g.32362543G>A | CA025300 | BRCA2 | c.7826G>A (p.Gly2609Asp) c.7457G>A (p.Gly2486Asp) c.293G>A (p.Gly98Asp) c.7834G>A (p.Val2612Met) c.391G>A n.7834G>A c.7730G>A (p.Gly2577Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.32362543G>C | CA025301 | BRCA2 | c.7826G>C (p.Gly2609Ala) c.7457G>C (p.Gly2486Ala) c.293G>C (p.Gly98Ala) c.7834G>C (p.Val2612Leu) c.391G>C n.7834G>C c.7730G>C (p.Gly2577Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32362543G= | CA2082830516 | BRCA2 | c.7826G= (p.Gly2609=) c.7457G= (p.Gly2486=) c.293G= (p.Gly98=) c.7834G= (p.Val2612=) c.391G= n.7834G= c.7730G= (p.Gly2577=) | |
13 | g.32362543G>T | CA10579757 | BRCA2 | c.7826G>T (p.Gly2609Val) c.7457G>T (p.Gly2486Val) c.293G>T (p.Gly98Val) c.7834G>T (p.Val2612Leu) c.391G>T n.7834G>T c.7730G>T (p.Gly2577Val) | ClinVar dbSNP |
13 | g.32362544T>A | CA483260817 | BRCA2 | c.7827T>A (p.Gly2609=) c.7458T>A (p.Gly2486=) c.294T>A (p.Gly98=) c.7835T>A (p.Val2612Glu) c.392T>A n.7835T>A c.7731T>A (p.Gly2577=) | ClinVar |
13 | g.32362544T>C | CA483260819 | BRCA2 | c.7827T>C (p.Gly2609=) c.7458T>C (p.Gly2486=) c.294T>C (p.Gly98=) c.7835T>C (p.Val2612Ala) c.392T>C n.7835T>C c.7731T>C (p.Gly2577=) | ClinVar dbSNP |
13 | g.32362544T>G | CA483260818 | BRCA2 | c.7827T>G (p.Gly2609=) c.7458T>G (p.Gly2486=) c.294T>G (p.Gly98=) c.7835T>G (p.Val2612Gly) c.392T>G n.7835T>G c.7731T>G (p.Gly2577=) | |
13 | g.32362544dup | CA2580087394 | BRCA2 | c.7827dup (p.Val2610CysfsTer8) c.7458dup (p.Val2487CysfsTer8) c.294dup (p.Val99CysfsTer8) c.7835dup (p.Trp2613ValfsTer?) c.392dup n.7835dup c.7731dup (p.Val2578CysfsTer8) | ClinVar |
13 | g.32362545G>A | CA025302 | BRCA2 | c.7828G>A (p.Val2610Met) c.7459G>A (p.Val2487Met) c.295G>A (p.Val99Met) c.7836G>A (p.Val2612=) c.393G>A n.7836G>A c.7732G>A (p.Val2578Met) | ClinVar dbSNP gnomAD v4 |
13 | g.32362545G>C | CA387746999 | BRCA2 | c.7828G>C (p.Val2610Leu) c.7459G>C (p.Val2487Leu) c.295G>C (p.Val99Leu) c.7836G>C (p.Val2612=) c.393G>C n.7836G>C c.7732G>C (p.Val2578Leu) | dbSNP |
13 | g.32362545G= | CA2082830530 | BRCA2 | c.7828G= (p.Val2610=) c.7459G= (p.Val2487=) c.295G= (p.Val99=) c.7836G= (p.Val2612=) c.393G= n.7836G= c.7732G= (p.Val2578=) | |
13 | g.32362545G>T | CA387747000 | BRCA2 | c.7828G>T (p.Val2610Leu) c.7459G>T (p.Val2487Leu) c.295G>T (p.Val99Leu) c.7836G>T (p.Val2612=) c.393G>T n.7836G>T c.7732G>T (p.Val2578Leu) | dbSNP |
13 | g.32362545_32362551del | CA2695217937 | BRCA2 | c.7828_7834del (p.Val2610GlnfsTer?) c.7459_7465del (p.Val2487GlnfsTer?) c.295_301del (p.Val99GlnfsTer?) c.7836_7842del (p.Trp2613LysfsTer5) c.393_399del n.7836_7842del c.7732_7738del (p.Val2578GlnfsTer?) | |
13 | g.32362546T>A | CA387747001 | BRCA2 | c.7829T>A (p.Val2610Glu) c.7460T>A (p.Val2487Glu) c.296T>A (p.Val99Glu) c.7837T>A (p.Trp2613Arg) c.394T>A n.7837T>A c.7733T>A (p.Val2578Glu) | |
13 | g.32362546T>C | CA387747002 | BRCA2 | c.7829T>C (p.Val2610Ala) c.7460T>C (p.Val2487Ala) c.296T>C (p.Val99Ala) c.7837T>C (p.Trp2613Arg) c.394T>C n.7837T>C c.7733T>C (p.Val2578Ala) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362546T>G | CA387747003 | BRCA2 | c.7829T>G (p.Val2610Gly) c.7460T>G (p.Val2487Gly) c.296T>G (p.Val99Gly) c.7837T>G (p.Trp2613Gly) c.394T>G n.7837T>G c.7733T>G (p.Val2578Gly) | |
13 | g.32362546T= | CA2082830542 | BRCA2 | c.7829T= (p.Val2610=) c.7460T= (p.Val2487=) c.296T= (p.Val99=) c.7837T= (p.Trp2613=) c.394T= n.7837T= c.7733T= (p.Val2578=) | |
13 | g.32362546dup | CA645509331 | BRCA2 | c.7829dup (p.Asp2611GlyfsTer7) c.7460dup (p.Asp2488GlyfsTer7) c.296dup (p.Asp100GlyfsTer7) c.7837dup (p.Trp2613LeufsTer?) c.394dup n.7837dup c.7733dup (p.Asp2579GlyfsTer7) | ClinVar dbSNP |
13 | g.32362547G>A | CA025303 | BRCA2 | c.7830G>A (p.Val2610=) c.7461G>A (p.Val2487=) c.297G>A (p.Val99=) c.7838G>A (p.Trp2613Ter) c.395G>A n.7838G>A c.7734G>A (p.Val2578=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362547G>C | CA483260820 | BRCA2 | c.7830G>C (p.Val2610=) c.7461G>C (p.Val2487=) c.297G>C (p.Val99=) c.7838G>C (p.Trp2613Ser) c.395G>C n.7838G>C c.7734G>C (p.Val2578=) | |
13 | g.32362547G= | CA2082830553 | BRCA2 | c.7830G= (p.Val2610=) c.7461G= (p.Val2487=) c.297G= (p.Val99=) c.7838G= (p.Trp2613=) c.395G= n.7838G= c.7734G= (p.Val2578=) | |
13 | g.32362547G>T | CA16614216 | BRCA2 | c.7830G>T (p.Val2610=) c.7461G>T (p.Val2487=) c.297G>T (p.Val99=) c.7838G>T (p.Trp2613Leu) c.395G>T n.7838G>T c.7734G>T (p.Val2578=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362548G>A | CA387747004 | BRCA2 | c.7831G>A (p.Asp2611Asn) c.7462G>A (p.Asp2488Asn) c.298G>A (p.Asp100Asn) c.7839G>A (p.Trp2613Ter) c.396G>A n.7839G>A c.7735G>A (p.Asp2579Asn) | ClinVar dbSNP |
13 | g.32362548G>C | CA387747005 | BRCA2 | c.7831G>C (p.Asp2611His) c.7462G>C (p.Asp2488His) c.298G>C (p.Asp100His) c.7839G>C (p.Trp2613Cys) c.396G>C n.7839G>C c.7735G>C (p.Asp2579His) | dbSNP |
13 | g.32362548G= | CA2082830564 | BRCA2 | c.7831G= (p.Asp2611=) c.7462G= (p.Asp2488=) c.298G= (p.Asp100=) c.7839G= (p.Trp2613=) c.396G= n.7839G= c.7735G= (p.Asp2579=) | |
13 | g.32362548G>T | CA387747006 | BRCA2 | c.7831G>T (p.Asp2611Tyr) c.7462G>T (p.Asp2488Tyr) c.298G>T (p.Asp100Tyr) c.7839G>T (p.Trp2613Cys) c.396G>T n.7839G>T c.7735G>T (p.Asp2579Tyr) | dbSNP |
13 | g.32362548_32362554delinsGATCCAA | CA2082830572 | BRCA2 | c.7831_7837delinsGATCCAA (p.Asp2611=) c.7462_7468delinsGATCCAA (p.Asp2488=) c.298_304delinsGATCCAA (p.Asp100=) c.7839_7845delinsGATCCAA (p.Trp2613=) c.396_402delinsGATCCAA n.7839_7845delinsGATCCAA c.7735_7741delinsGATCCAA (p.Asp2579=) | |
13 | g.32362549A= | CA2082830588 | BRCA2 | c.7832A= (p.Asp2611=) c.7463A= (p.Asp2488=) c.299A= (p.Asp100=) c.7840A= (p.Ile2614=) c.397A= n.7840A= c.7736A= (p.Asp2579=) | |
13 | g.32362549A>C | CA387747007 | BRCA2 | c.7832A>C (p.Asp2611Ala) c.7463A>C (p.Asp2488Ala) c.299A>C (p.Asp100Ala) c.7840A>C (p.Ile2614Leu) c.397A>C n.7840A>C c.7736A>C (p.Asp2579Ala) | |
13 | g.32362549A>G | CA025304 | BRCA2 | c.7832A>G (p.Asp2611Gly) c.7463A>G (p.Asp2488Gly) c.299A>G (p.Asp100Gly) c.7840A>G (p.Ile2614Val) c.397A>G n.7840A>G c.7736A>G (p.Asp2579Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362549A>T | CA387747008 | BRCA2 | c.7832A>T (p.Asp2611Val) c.7463A>T (p.Asp2488Val) c.299A>T (p.Asp100Val) c.7840A>T (p.Ile2614Phe) c.397A>T n.7840A>T c.7736A>T (p.Asp2579Val) | |
13 | g.32362550_32362555del | CA954700246 | BRCA2 | c.7833_7838del (p.Asp2611_Lys2613delinsGlu) c.7464_7469del (p.Asp2488_Lys2490delinsGlu) c.300_305del (p.Asp100_Lys102delinsGlu) c.7841_7846del (p.Ile2614_Gln2615del) c.398_403del n.7841_7846del c.7737_7742del (p.Asp2579_Lys2581delinsGlu) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362549_32362559delinsATCCAAAGCTT | CA2082830580 | BRCA2 | c.7832_7842delinsATCCAAAGCTT (p.Asp2611=) c.7463_7473delinsATCCAAAGCTT (p.Asp2488=) c.299_309delinsATCCAAAGCTT (p.Asp100=) c.7840_7850delinsATCCAAAGCTT (p.Ile2614=) c.397_407delinsATCCAAAGCTT n.7840_7850delinsATCCAAAGCTT c.7736_7746delinsATCCAAAGCTT (p.Asp2579=) | |
13 | g.32362549_32362560delinsATCCAAAGCTTA | CA2082830583 | BRCA2 | c.7832_7843delinsATCCAAAGCTTA (p.Asp2611=) c.7463_7474delinsATCCAAAGCTTA (p.Asp2488=) c.299_310delinsATCCAAAGCTTA (p.Asp100=) c.7840_7851delinsATCCAAAGCTTA (p.Ile2614=) c.397_408delinsATCCAAAGCTTA n.7840_7851delinsATCCAAAGCTTA c.7736_7747delinsATCCAAAGCTTA (p.Asp2579=) | |
13 | g.32362549_32362564delinsATCCAAAGCTTATTTC | CA2082830581 | BRCA2 | c.7832_7847delinsATCCAAAGCTTATTTC (p.Asp2611=) c.7463_7478delinsATCCAAAGCTTATTTC (p.Asp2488=) c.299_314delinsATCCAAAGCTTATTTC (p.Asp100=) c.7840_7855delinsATCCAAAGCTTATTTC (p.Ile2614=) c.397_412delinsATCCAAAGCTTATTTC n.7840_7855delinsATCCAAAGCTTATTTC c.7736_7751delinsATCCAAAGCTTATTTC (p.Asp2579=) | |
13 | g.32362550T>A | CA387747009 | BRCA2 | c.7833T>A (p.Asp2611Glu) c.7464T>A (p.Asp2488Glu) c.300T>A (p.Asp100Glu) c.7841T>A (p.Ile2614Asn) c.398T>A n.7841T>A c.7737T>A (p.Asp2579Glu) | dbSNP |
13 | g.32362550T>C | CA483260821 | BRCA2 | c.7833T>C (p.Asp2611=) c.7464T>C (p.Asp2488=) c.300T>C (p.Asp100=) c.7841T>C (p.Ile2614Thr) c.398T>C n.7841T>C c.7737T>C (p.Asp2579=) | |
13 | g.32362550T>G | CA387747010 | BRCA2 | c.7833T>G (p.Asp2611Glu) c.7464T>G (p.Asp2488Glu) c.300T>G (p.Asp100Glu) c.7841T>G (p.Ile2614Ser) c.398T>G n.7841T>G c.7737T>G (p.Asp2579Glu) | |
13 | g.32362550_32362551delinsTC | CA2082830622 | BRCA2 | c.7833_7834delinsTC (p.Asp2611=) c.7464_7465delinsTC (p.Asp2488=) c.300_301delinsTC (p.Asp100=) c.7841_7842delinsTC (p.Ile2614=) c.398_399delinsTC n.7841_7842delinsTC c.7737_7738delinsTC (p.Asp2579=) | |
13 | g.32362550_32362559del | CA697354848 | BRCA2 | c.7833_7842del (p.Asp2611GlufsTer?) c.7464_7473del (p.Asp2488GlufsTer?) c.300_309del (p.Asp100GlufsTer?) c.7841_7850del (p.Ile2614AsnfsTer3) c.398_407del n.7841_7850del c.7737_7746del (p.Asp2579GlufsTer?) | dbSNP |
13 | g.32362550_32362560delinsG | CA658656477 | BRCA2 | c.7833_7843delinsG (p.Asp2611GlufsTer?) c.7464_7474delinsG (p.Asp2488GlufsTer?) c.300_310delinsG (p.Asp100GlufsTer?) c.7841_7851delinsG (p.Ile2614SerfsTer3) c.398_408delinsG n.7841_7851delinsG c.7737_7747delinsG (p.Asp2579GlufsTer?) | ClinVar dbSNP |
13 | g.32362550_32362564delinsGTTTA | CA916080523 | BRCA2 | c.7833_7847delinsGTTTA (p.Asp2611GlufsTer?) c.7464_7478delinsGTTTA (p.Asp2488GlufsTer?) c.300_314delinsGTTTA (p.Asp100GlufsTer?) c.7841_7855delinsGTTTA (p.Ile2614SerfsTer3) c.398_412delinsGTTTA n.7841_7855delinsGTTTA c.7737_7751delinsGTTTA (p.Asp2579GlufsTer?) | ClinVar dbSNP |
13 | g.32362551C>A | CA387747011 | BRCA2 | c.7834C>A (p.Pro2612Thr) c.7465C>A (p.Pro2489Thr) c.301C>A (p.Pro101Thr) c.7842C>A (p.Ile2614=) c.399C>A n.7842C>A c.7738C>A (p.Pro2580Thr) | dbSNP gnomAD v4 |
13 | g.32362551C= | CA2082830636 | BRCA2 | c.7834C= (p.Pro2612=) c.7465C= (p.Pro2489=) c.301C= (p.Pro101=) c.7842C= (p.Ile2614=) c.399C= n.7842C= c.7738C= (p.Pro2580=) | |
13 | g.32362551C>G | CA387747012 | BRCA2 | c.7834C>G (p.Pro2612Ala) c.7465C>G (p.Pro2489Ala) c.301C>G (p.Pro101Ala) c.7842C>G (p.Ile2614Met) c.399C>G n.7842C>G c.7738C>G (p.Pro2580Ala) | dbSNP |
13 | g.32362551C>T | CA6941161 | BRCA2 | c.7834C>T (p.Pro2612Ser) c.7465C>T (p.Pro2489Ser) c.301C>T (p.Pro101Ser) c.7842C>T (p.Ile2614=) c.399C>T n.7842C>T c.7738C>T (p.Pro2580Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32362552del | CA919242940 | BRCA2 | c.7835del (p.Pro2612GlnfsTer?) c.7466del (p.Pro2489GlnfsTer?) c.302del (p.Pro101GlnfsTer?) c.7843del (p.Gln2615LysfsTer5) c.400del n.7843del c.7739del (p.Pro2580GlnfsTer?) | dbSNP |
13 | g.32362552C>A | CA387747015 | BRCA2 | c.7835C>A (p.Pro2612Gln) c.7466C>A (p.Pro2489Gln) c.302C>A (p.Pro101Gln) c.7843C>A (p.Gln2615Lys) c.400C>A n.7843C>A c.7739C>A (p.Pro2580Gln) | dbSNP |
13 | g.32362552C= | CA2082830647 | BRCA2 | c.7835C= (p.Pro2612=) c.7466C= (p.Pro2489=) c.302C= (p.Pro101=) c.7843C= (p.Gln2615=) c.400C= n.7843C= c.7739C= (p.Pro2580=) | |
13 | g.32362552C>G | CA387747014 | BRCA2 | c.7835C>G (p.Pro2612Arg) c.7466C>G (p.Pro2489Arg) c.302C>G (p.Pro101Arg) c.7843C>G (p.Gln2615Glu) c.400C>G n.7843C>G c.7739C>G (p.Pro2580Arg) | dbSNP |
13 | g.32362552C>T | CA387747013 | BRCA2 | c.7835C>T (p.Pro2612Leu) c.7466C>T (p.Pro2489Leu) c.302C>T (p.Pro101Leu) c.7843C>T (p.Gln2615Ter) c.400C>T n.7843C>T c.7739C>T (p.Pro2580Leu) | dbSNP |
13 | g.32362552_32362555dup | CA2580087396 | BRCA2 | c.7835_7838dup (p.Lys2613AsnfsTer6) c.7466_7469dup (p.Lys2490AsnfsTer6) c.302_305dup (p.Lys102AsnfsTer6) c.7843_7846dup (p.Ser2616ThrfsTer?) c.400_403dup n.7843_7846dup c.7739_7742dup (p.Lys2581AsnfsTer6) | ClinVar |
13 | g.32362553A= | CA2082830657 | BRCA2 | c.7836A= (p.Pro2612=) c.7467A= (p.Pro2489=) c.303A= (p.Pro101=) c.7844A= (p.Gln2615=) c.401A= n.7844A= c.7740A= (p.Pro2580=) | |
13 | g.32362553A>C | CA16614361 | BRCA2 | c.7836A>C (p.Pro2612=) c.7467A>C (p.Pro2489=) c.303A>C (p.Pro101=) c.7844A>C (p.Gln2615Pro) c.401A>C n.7844A>C c.7740A>C (p.Pro2580=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362553A>G | CA483260822 | BRCA2 | c.7836A>G (p.Pro2612=) c.7467A>G (p.Pro2489=) c.303A>G (p.Pro101=) c.7844A>G (p.Gln2615Arg) c.401A>G n.7844A>G c.7740A>G (p.Pro2580=) | dbSNP |
13 | g.32362553A>T | CA483260823 | BRCA2 | c.7836A>T (p.Pro2612=) c.7467A>T (p.Pro2489=) c.303A>T (p.Pro101=) c.7844A>T (p.Gln2615Leu) c.401A>T n.7844A>T c.7740A>T (p.Pro2580=) | |
13 | g.32362554A>C | CA387747016 | BRCA2 | c.7837A>C (p.Lys2613Gln) c.7468A>C (p.Lys2490Gln) c.304A>C (p.Lys102Gln) c.7845A>C (p.Gln2615His) c.402A>C n.7845A>C c.7741A>C (p.Lys2581Gln) | |
13 | g.32362554A>G | CA387747017 | BRCA2 | c.7837A>G (p.Lys2613Glu) c.7468A>G (p.Lys2490Glu) c.304A>G (p.Lys102Glu) c.7845A>G (p.Gln2615=) c.402A>G n.7845A>G c.7741A>G (p.Lys2581Glu) | |
13 | g.32362554A>T | CA387747018 | BRCA2 | c.7837A>T (p.Lys2613Ter) c.7468A>T (p.Lys2490Ter) c.304A>T (p.Lys102Ter) c.7845A>T (p.Gln2615His) c.402A>T n.7845A>T c.7741A>T (p.Lys2581Ter) | dbSNP |
13 | g.32362555A>C | CA387747019 | BRCA2 | c.7838A>C (p.Lys2613Thr) c.7469A>C (p.Lys2490Thr) c.305A>C (p.Lys102Thr) c.7846A>C (p.Ser2616Arg) c.403A>C n.7846A>C c.7742A>C (p.Lys2581Thr) | |
13 | g.32362555A>G | CA387747020 | BRCA2 | c.7838A>G (p.Lys2613Arg) c.7469A>G (p.Lys2490Arg) c.305A>G (p.Lys102Arg) c.7846A>G (p.Ser2616Gly) c.403A>G n.7846A>G c.7742A>G (p.Lys2581Arg) | |
13 | g.32362555A>T | CA387747021 | BRCA2 | c.7838A>T (p.Lys2613Met) c.7469A>T (p.Lys2490Met) c.305A>T (p.Lys102Met) c.7846A>T (p.Ser2616Cys) c.403A>T n.7846A>T c.7742A>T (p.Lys2581Met) | dbSNP |
13 | g.32362556G>A | CA16607483 | BRCA2 | c.7839G>A (p.Lys2613=) c.7470G>A (p.Lys2490=) c.306G>A (p.Lys102=) c.7847G>A (p.Ser2616Asn) c.404G>A n.7847G>A c.7743G>A (p.Lys2581=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362556G>C | CA387747022 | BRCA2 | c.7839G>C (p.Lys2613Asn) c.7470G>C (p.Lys2490Asn) c.306G>C (p.Lys102Asn) c.7847G>C (p.Ser2616Thr) c.404G>C n.7847G>C c.7743G>C (p.Lys2581Asn) | dbSNP |
13 | g.32362556G= | CA2082830669 | BRCA2 | c.7839G= (p.Lys2613=) c.7470G= (p.Lys2490=) c.306G= (p.Lys102=) c.7847G= (p.Ser2616=) c.404G= n.7847G= c.7743G= (p.Lys2581=) | |
13 | g.32362556G>T | CA387747023 | BRCA2 | c.7839G>T (p.Lys2613Asn) c.7470G>T (p.Lys2490Asn) c.306G>T (p.Lys102Asn) c.7847G>T (p.Ser2616Ile) c.404G>T n.7847G>T c.7743G>T (p.Lys2581Asn) | dbSNP |
13 | g.32362556_32362560delinsGCTTA | CA2082830674 | BRCA2 | c.7839_7843delinsGCTTA (p.Lys2613=) c.7470_7474delinsGCTTA (p.Lys2490=) c.306_310delinsGCTTA (p.Lys102=) c.7847_7851delinsGCTTA (p.Ser2616=) c.404_408delinsGCTTA n.7847_7851delinsGCTTA c.7743_7747delinsGCTTA (p.Lys2581=) | |
13 | g.32362557C>A | CA387747024 | BRCA2 | c.7840C>A (p.Leu2614Ile) c.7471C>A (p.Leu2491Ile) c.307C>A (p.Leu103Ile) c.7848C>A (p.Ser2616Arg) c.405C>A n.7848C>A c.7744C>A (p.Leu2582Ile) | |
13 | g.32362557C>G | CA387747025 | BRCA2 | c.7840C>G (p.Leu2614Val) c.7471C>G (p.Leu2491Val) c.307C>G (p.Leu103Val) c.7848C>G (p.Ser2616Arg) c.405C>G n.7848C>G c.7744C>G (p.Leu2582Val) | |
13 | g.32362557C>T | CA387747026 | BRCA2 | c.7840C>T (p.Leu2614Phe) c.7471C>T (p.Leu2491Phe) c.307C>T (p.Leu103Phe) c.7848C>T (p.Ser2616=) c.405C>T n.7848C>T c.7744C>T (p.Leu2582Phe) | COSMIC |
13 | g.32362557_32362560del | CA954700254 | BRCA2 | c.7840_7843del (p.Leu2614PhefsTer?) c.7471_7474del (p.Leu2491PhefsTer?) c.307_310del (p.Leu103PhefsTer?) c.7848_7851del (p.Leu2617PhefsTer2) c.405_408del n.7848_7851del c.7744_7747del (p.Leu2582PhefsTer?) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362558T>A | CA387747029 | BRCA2 | c.7841T>A (p.Leu2614His) c.7472T>A (p.Leu2491His) c.308T>A (p.Leu103His) c.7849T>A (p.Leu2617Ile) c.406T>A n.7849T>A c.7745T>A (p.Leu2582His) | |
13 | g.32362558T>C | CA387747028 | BRCA2 | c.7841T>C (p.Leu2614Pro) c.7472T>C (p.Leu2491Pro) c.308T>C (p.Leu103Pro) c.7849T>C (p.Leu2617=) c.406T>C n.7849T>C c.7745T>C (p.Leu2582Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32362558T>G | CA387747027 | BRCA2 | c.7841T>G (p.Leu2614Arg) c.7472T>G (p.Leu2491Arg) c.308T>G (p.Leu103Arg) c.7849T>G (p.Leu2617Val) c.406T>G n.7849T>G c.7745T>G (p.Leu2582Arg) | dbSNP |
13 | g.32362558T= | CA2082830702 | BRCA2 | c.7841T= (p.Leu2614=) c.7472T= (p.Leu2491=) c.308T= (p.Leu103=) c.7849T= (p.Leu2617=) c.406T= n.7849T= c.7745T= (p.Leu2582=) | |
13 | g.32362558_32362560delinsTTA | CA2082830698 | BRCA2 | c.7841_7843delinsTTA (p.Leu2614=) c.7472_7474delinsTTA (p.Leu2491=) c.308_310delinsTTA (p.Leu103=) c.7849_7851delinsTTA (p.Leu2617=) c.406_408delinsTTA n.7849_7851delinsTTA c.7745_7747delinsTTA (p.Leu2582=) | |
13 | g.32362559T>A | CA483260824 | BRCA2 | c.7842T>A (p.Leu2614=) c.7473T>A (p.Leu2491=) c.309T>A (p.Leu103=) c.7850T>A (p.Leu2617Ter) c.407T>A n.7850T>A c.7746T>A (p.Leu2582=) | ClinVar dbSNP |
13 | g.32362559T>C | CA483260825 | BRCA2 | c.7842T>C (p.Leu2614=) c.7473T>C (p.Leu2491=) c.309T>C (p.Leu103=) c.7850T>C (p.Leu2617Ser) c.407T>C n.7850T>C c.7746T>C (p.Leu2582=) | |
13 | g.32362559T>G | CA483260826 | BRCA2 | c.7842T>G (p.Leu2614=) c.7473T>G (p.Leu2491=) c.309T>G (p.Leu103=) c.7850T>G (p.Leu2617Ter) c.407T>G n.7850T>G c.7746T>G (p.Leu2582=) | |
13 | g.32362559T= | CA2082830717 | BRCA2 | c.7842T= (p.Leu2614=) c.7473T= (p.Leu2491=) c.309T= (p.Leu103=) c.7850T= (p.Leu2617=) c.407T= n.7850T= c.7746T= (p.Leu2582=) | |
13 | g.32362560_32362561del | CA10590057 | BRCA2 | c.7843_7844del (p.Ile2615PhefsTer2) c.7474_7475del (p.Ile2492PhefsTer2) c.310_311del (p.Ile104PhefsTer2) c.7851_7852del (p.Leu2617PhefsTer?) c.408_409del n.7851_7852del c.7747_7748del (p.Ile2583PhefsTer2) | ClinVar dbSNP |
13 | g.32362560A= | CA2082830725 | BRCA2 | c.7843A= (p.Ile2615=) c.7474A= (p.Ile2492=) c.310A= (p.Ile104=) c.7851A= (p.Leu2617=) c.408A= n.7851A= c.7747A= (p.Ile2583=) | |
13 | g.32362560A>C | CA387747030 | BRCA2 | c.7843A>C (p.Ile2615Leu) c.7474A>C (p.Ile2492Leu) c.310A>C (p.Ile104Leu) c.7851A>C (p.Leu2617Phe) c.408A>C n.7851A>C c.7747A>C (p.Ile2583Leu) | ClinVar |
13 | g.32362560A>G | CA387747031 | BRCA2 | c.7843A>G (p.Ile2615Val) c.7474A>G (p.Ile2492Val) c.310A>G (p.Ile104Val) c.7851A>G (p.Leu2617=) c.408A>G n.7851A>G c.7747A>G (p.Ile2583Val) | dbSNP |
13 | g.32362560A>T | CA387747032 | BRCA2 | c.7843A>T (p.Ile2615Phe) c.7474A>T (p.Ile2492Phe) c.310A>T (p.Ile104Phe) c.7851A>T (p.Leu2617Phe) c.408A>T n.7851A>T c.7747A>T (p.Ile2583Phe) | dbSNP |
13 | g.32362560_32362561delinsAT | CA2082830723 | BRCA2 | c.7843_7844delinsAT (p.Ile2615=) c.7474_7475delinsAT (p.Ile2492=) c.310_311delinsAT (p.Ile104=) c.7851_7852delinsAT (p.Leu2617=) c.408_409delinsAT n.7851_7852delinsAT c.7747_7748delinsAT (p.Ile2583=) | |
13 | g.32362561T>A | CA387747033 | BRCA2 | c.7844T>A (p.Ile2615Asn) c.7475T>A (p.Ile2492Asn) c.311T>A (p.Ile104Asn) c.7852T>A (p.Phe2618Ile) c.409T>A n.7852T>A c.7748T>A (p.Ile2583Asn) | dbSNP |
13 | g.32362561T>C | CA387747034 | BRCA2 | c.7844T>C (p.Ile2615Thr) c.7475T>C (p.Ile2492Thr) c.311T>C (p.Ile104Thr) c.7852T>C (p.Phe2618Leu) c.409T>C n.7852T>C c.7748T>C (p.Ile2583Thr) | |
13 | g.32362561T>G | CA387747035 | BRCA2 | c.7844T>G (p.Ile2615Ser) c.7475T>G (p.Ile2492Ser) c.311T>G (p.Ile104Ser) c.7852T>G (p.Phe2618Val) c.409T>G n.7852T>G c.7748T>G (p.Ile2583Ser) | dbSNP |
13 | g.32362563del | CA025305 | BRCA2 | c.7846del (p.Ser2616LeufsTer?) c.7477del (p.Ser2493LeufsTer?) c.313del (p.Ser105LeufsTer?) c.7854del (p.Leu2619Ter) c.411del n.7854del c.7750del (p.Ser2584LeufsTer?) | ClinVar dbSNP |
13 | g.32362562T>A | CA483260827 | BRCA2 | c.7845T>A (p.Ile2615=) c.7476T>A (p.Ile2492=) c.312T>A (p.Ile104=) c.7853T>A (p.Phe2618Tyr) c.410T>A n.7853T>A c.7749T>A (p.Ile2583=) | |
13 | g.32362562T>C | CA483260828 | BRCA2 | c.7845T>C (p.Ile2615=) c.7476T>C (p.Ile2492=) c.312T>C (p.Ile104=) c.7853T>C (p.Phe2618Ser) c.410T>C n.7853T>C c.7749T>C (p.Ile2583=) | |
13 | g.32362562T>G | CA387747036 | BRCA2 | c.7845T>G (p.Ile2615Met) c.7476T>G (p.Ile2492Met) c.312T>G (p.Ile104Met) c.7853T>G (p.Phe2618Cys) c.410T>G n.7853T>G c.7749T>G (p.Ile2583Met) | |
13 | g.32362563T>A | CA387747037 | BRCA2 | c.7846T>A (p.Ser2616Thr) c.7477T>A (p.Ser2493Thr) c.313T>A (p.Ser105Thr) c.7854T>A (p.Phe2618Leu) c.411T>A n.7854T>A c.7750T>A (p.Ser2584Thr) | dbSNP |
13 | g.32362563T>C | CA387747038 | BRCA2 | c.7846T>C (p.Ser2616Pro) c.7477T>C (p.Ser2493Pro) c.313T>C (p.Ser105Pro) c.7854T>C (p.Phe2618=) c.411T>C n.7854T>C c.7750T>C (p.Ser2584Pro) | dbSNP |
13 | g.32362563T>G | CA387747039 | BRCA2 | c.7846T>G (p.Ser2616Ala) c.7477T>G (p.Ser2493Ala) c.313T>G (p.Ser105Ala) c.7854T>G (p.Phe2618Leu) c.411T>G n.7854T>G c.7750T>G (p.Ser2584Ala) | gnomAD v4 |
13 | g.32362563_32362564delinsTC | CA2082830743 | BRCA2 | c.7846_7847delinsTC (p.Ser2616=) c.7477_7478delinsTC (p.Ser2493=) c.313_314delinsTC (p.Ser105=) c.7854_7855delinsTC (p.Phe2618=) c.411_412delinsTC n.7854_7855delinsTC c.7750_7751delinsTC (p.Ser2584=) | |
13 | g.32362564del | CA025306 | BRCA2 | c.7847del (p.Ser2616LeufsTer?) c.7478del (p.Ser2493LeufsTer?) c.314del (p.Ser105LeufsTer?) c.7855del (p.Leu2619Ter) c.412del n.7855del c.7751del (p.Ser2584LeufsTer?) | ClinVar dbSNP |
13 | g.32362564C>A | CA387747041 | BRCA2 | c.7847C>A (p.Ser2616Tyr) c.7478C>A (p.Ser2493Tyr) c.314C>A (p.Ser105Tyr) c.7855C>A (p.Leu2619Ile) c.412C>A n.7855C>A c.7751C>A (p.Ser2584Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362564C= | CA2082830756 | BRCA2 | c.7847C= (p.Ser2616=) c.7478C= (p.Ser2493=) c.314C= (p.Ser105=) c.7855C= (p.Leu2619=) c.412C= n.7855C= c.7751C= (p.Ser2584=) | |
13 | g.32362564C>G | CA387747042 | BRCA2 | c.7847C>G (p.Ser2616Cys) c.7478C>G (p.Ser2493Cys) c.314C>G (p.Ser105Cys) c.7855C>G (p.Leu2619Val) c.412C>G n.7855C>G c.7751C>G (p.Ser2584Cys) | ClinVar dbSNP |
13 | g.32362564C>T | CA387747040 | BRCA2 | c.7847C>T (p.Ser2616Phe) c.7478C>T (p.Ser2493Phe) c.314C>T (p.Ser105Phe) c.7855C>T (p.Leu2619=) c.412C>T n.7855C>T c.7751C>T (p.Ser2584Phe) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32362565T>A | CA483260874 | BRCA2 | c.7848T>A (p.Ser2616=) c.7479T>A (p.Ser2493=) c.315T>A (p.Ser105=) c.7856T>A (p.Leu2619Gln) c.413T>A n.7856T>A c.7752T>A (p.Ser2584=) | |
13 | g.32362565T>C | CA483260871 | BRCA2 | c.7848T>C (p.Ser2616=) c.7479T>C (p.Ser2493=) c.315T>C (p.Ser105=) c.7856T>C (p.Leu2619Pro) c.413T>C n.7856T>C c.7752T>C (p.Ser2584=) | |
13 | g.32362565T>G | CA483260873 | BRCA2 | c.7848T>G (p.Ser2616=) c.7479T>G (p.Ser2493=) c.315T>G (p.Ser105=) c.7856T>G (p.Leu2619Arg) c.413T>G n.7856T>G c.7752T>G (p.Ser2584=) | dbSNP |
13 | g.32362565T= | CA2082830769 | BRCA2 | c.7848T= (p.Ser2616=) c.7479T= (p.Ser2493=) c.315T= (p.Ser105=) c.7856T= (p.Leu2619=) c.413T= n.7856T= c.7752T= (p.Ser2584=) | |
13 | g.32362566A= | CA2082830779 | BRCA2 | c.7849A= (p.Arg2617=) c.7480A= (p.Arg2494=) c.316A= (p.Arg106=) c.7857A= (p.Leu2619=) c.414A= n.7857A= c.7753A= (p.Arg2585=) | |
13 | g.32362566A>C | CA483260875 | BRCA2 | c.7849A>C (p.Arg2617=) c.7480A>C (p.Arg2494=) c.316A>C (p.Arg106=) c.7857A>C (p.Leu2619=) c.414A>C n.7857A>C c.7753A>C (p.Arg2585=) | ClinVar |
13 | g.32362566A>G | CA025307 | BRCA2 | c.7849A>G (p.Arg2617Gly) c.7480A>G (p.Arg2494Gly) c.316A>G (p.Arg106Gly) c.7857A>G (p.Leu2619=) c.414A>G n.7857A>G c.7753A>G (p.Arg2585Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362566A>T | CA387747043 | BRCA2 | c.7849A>T (p.Arg2617Ter) c.7480A>T (p.Arg2494Ter) c.316A>T (p.Arg106Ter) c.7857A>T (p.Leu2619=) c.414A>T n.7857A>T c.7753A>T (p.Arg2585Ter) | dbSNP |
13 | g.32362567G>A | CA387747044 | BRCA2 | c.7850G>A (p.Arg2617Lys) c.7481G>A (p.Arg2494Lys) c.317G>A (p.Arg106Lys) c.7858G>A (p.Glu2620Lys) c.415G>A n.7858G>A c.7754G>A (p.Arg2585Lys) | ClinVar dbSNP |
13 | g.32362567G>C | CA387747045 | BRCA2 | c.7850G>C (p.Arg2617Thr) c.7481G>C (p.Arg2494Thr) c.317G>C (p.Arg106Thr) c.7858G>C (p.Glu2620Gln) c.415G>C n.7858G>C c.7754G>C (p.Arg2585Thr) | dbSNP |
13 | g.32362567G= | CA2082830788 | BRCA2 | c.7850G= (p.Arg2617=) c.7481G= (p.Arg2494=) c.317G= (p.Arg106=) c.7858G= (p.Glu2620=) c.415G= n.7858G= c.7754G= (p.Arg2585=) | |
13 | g.32362567G>T | CA387747046 | BRCA2 | c.7850G>T (p.Arg2617Ile) c.7481G>T (p.Arg2494Ile) c.317G>T (p.Arg106Ile) c.7858G>T (p.Glu2620Ter) c.415G>T n.7858G>T c.7754G>T (p.Arg2585Ile) | |
13 | g.32362568A>C | CA387747047 | BRCA2 | c.7851A>C (p.Arg2617Ser) c.7482A>C (p.Arg2494Ser) c.318A>C (p.Arg106Ser) c.7859A>C (p.Glu2620Ala) c.416A>C n.7859A>C c.7755A>C (p.Arg2585Ser) | |
13 | g.32362568A>G | CA483260879 | BRCA2 | c.7851A>G (p.Arg2617=) c.7482A>G (p.Arg2494=) c.318A>G (p.Arg106=) c.7859A>G (p.Glu2620Gly) c.416A>G n.7859A>G c.7755A>G (p.Arg2585=) | |
13 | g.32362568A>T | CA387747048 | BRCA2 | c.7851A>T (p.Arg2617Ser) c.7482A>T (p.Arg2494Ser) c.318A>T (p.Arg106Ser) c.7859A>T (p.Glu2620Val) c.416A>T n.7859A>T c.7755A>T (p.Arg2585Ser) | |
13 | g.32362569_32362579del | CA2695217939 | BRCA2 | c.7852_7862del (p.Ile2618Ter) c.7483_7493del (p.Ile2495Ter) c.319_329del (p.Ile107Ter) c.7860_7870del (p.Glu2620AspfsTer?) c.417_427del n.7860_7870del c.7756_7766del (p.Ile2586Ter) | |
13 | g.32362569A= | CA2082830795 | BRCA2 | c.7852A= (p.Ile2618=) c.7483A= (p.Ile2495=) c.319A= (p.Ile107=) c.7860A= (p.Glu2620=) c.417A= n.7860A= c.7756A= (p.Ile2586=) | |
13 | g.32362569A>C | CA387747049 | BRCA2 | c.7852A>C (p.Ile2618Leu) c.7483A>C (p.Ile2495Leu) c.319A>C (p.Ile107Leu) c.7860A>C (p.Glu2620Asp) c.417A>C n.7860A>C c.7756A>C (p.Ile2586Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362569A>G | CA387747050 | BRCA2 | c.7852A>G (p.Ile2618Val) c.7483A>G (p.Ile2495Val) c.319A>G (p.Ile107Val) c.7860A>G (p.Glu2620=) c.417A>G n.7860A>G c.7756A>G (p.Ile2586Val) | |
13 | g.32362569A>T | CA387747051 | BRCA2 | c.7852A>T (p.Ile2618Phe) c.7483A>T (p.Ile2495Phe) c.319A>T (p.Ile107Phe) c.7860A>T (p.Glu2620Asp) c.417A>T n.7860A>T c.7756A>T (p.Ile2586Phe) | dbSNP |
13 | g.32362569_32362570delinsAT | CA2082830790 | BRCA2 | c.7852_7853delinsAT (p.Ile2618=) c.7483_7484delinsAT (p.Ile2495=) c.319_320delinsAT (p.Ile107=) c.7860_7861delinsAT (p.Glu2620=) c.417_418delinsAT n.7860_7861delinsAT c.7756_7757delinsAT (p.Ile2586=) | |
13 | g.32362570T>A | CA387747052 | BRCA2 | c.7853T>A (p.Ile2618Asn) c.7484T>A (p.Ile2495Asn) c.320T>A (p.Ile107Asn) c.7861T>A (p.Phe2621Ile) c.418T>A n.7861T>A c.7757T>A (p.Ile2586Asn) | |
13 | g.32362570T>C | CA387747053 | BRCA2 | c.7853T>C (p.Ile2618Thr) c.7484T>C (p.Ile2495Thr) c.320T>C (p.Ile107Thr) c.7861T>C (p.Phe2621Leu) c.418T>C n.7861T>C c.7757T>C (p.Ile2586Thr) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362570T>G | CA387747054 | BRCA2 | c.7853T>G (p.Ile2618Ser) c.7484T>G (p.Ile2495Ser) c.320T>G (p.Ile107Ser) c.7861T>G (p.Phe2621Val) c.418T>G n.7861T>G c.7757T>G (p.Ile2586Ser) | |
13 | g.32362570T= | CA2082830806 | BRCA2 | c.7853T= (p.Ile2618=) c.7484T= (p.Ile2495=) c.320T= (p.Ile107=) c.7861T= (p.Phe2621=) c.418T= n.7861T= c.7757T= (p.Ile2586=) | |
13 | g.32362572dup | CA165137 | BRCA2 | c.7855dup (p.Trp2619LeufsTer4) c.7486dup (p.Trp2496LeufsTer4) c.322dup (p.Trp108LeufsTer4) c.7863dup (p.Gly2622TrpfsTer?) c.420dup n.7863dup c.7759dup (p.Trp2587LeufsTer4) | ClinVar dbSNP |
13 | g.32362572del | CA916080524 | BRCA2 | c.7855del (p.Trp2619GlyfsTer29) c.7486del (p.Trp2496GlyfsTer29) c.322del (p.Trp108GlyfsTer29) c.7863del (p.Phe2621LeufsTer4) c.420del n.7863del c.7759del (p.Trp2587GlyfsTer29) | ClinVar dbSNP |
13 | g.32362571T>A | CA483260883 | BRCA2 | c.7854T>A (p.Ile2618=) c.7485T>A (p.Ile2495=) c.321T>A (p.Ile107=) c.7862T>A (p.Phe2621Tyr) c.419T>A n.7862T>A c.7758T>A (p.Ile2586=) | dbSNP |
13 | g.32362571T>C | CA483260884 | BRCA2 | c.7854T>C (p.Ile2618=) c.7485T>C (p.Ile2495=) c.321T>C (p.Ile107=) c.7862T>C (p.Phe2621Ser) c.419T>C n.7862T>C c.7758T>C (p.Ile2586=) | |
13 | g.32362571T>G | CA387747055 | BRCA2 | c.7854T>G (p.Ile2618Met) c.7485T>G (p.Ile2495Met) c.321T>G (p.Ile107Met) c.7862T>G (p.Phe2621Cys) c.419T>G n.7862T>G c.7758T>G (p.Ile2586Met) | |
13 | g.32362572T>A | CA387747056 | BRCA2 | c.7855T>A (p.Trp2619Arg) c.7486T>A (p.Trp2496Arg) c.322T>A (p.Trp108Arg) c.7863T>A (p.Phe2621Leu) c.420T>A n.7863T>A c.7759T>A (p.Trp2587Arg) | |
13 | g.32362572T>C | CA387747058 | BRCA2 | c.7855T>C (p.Trp2619Arg) c.7486T>C (p.Trp2496Arg) c.322T>C (p.Trp108Arg) c.7863T>C (p.Phe2621=) c.420T>C n.7863T>C c.7759T>C (p.Trp2587Arg) | ClinVar dbSNP |
13 | g.32362572T>G | CA387747057 | BRCA2 | c.7855T>G (p.Trp2619Gly) c.7486T>G (p.Trp2496Gly) c.322T>G (p.Trp108Gly) c.7863T>G (p.Phe2621Leu) c.420T>G n.7863T>G c.7759T>G (p.Trp2587Gly) | ClinVar |
13 | g.32362572T= | CA2082830812 | BRCA2 | c.7855T= (p.Trp2619=) c.7486T= (p.Trp2496=) c.322T= (p.Trp108=) c.7863T= (p.Phe2621=) c.420T= n.7863T= c.7759T= (p.Trp2587=) | |
13 | g.32362572_32362573delinsTG | CA2082830811 | BRCA2 | c.7855_7856delinsTG (p.Trp2619=) c.7486_7487delinsTG (p.Trp2496=) c.322_323delinsTG (p.Trp108=) c.7863_7864delinsTG (p.Phe2621=) c.420_421delinsTG n.7863_7864delinsTG c.7759_7760delinsTG (p.Trp2587=) | |
13 | g.32362573G>A | CA025309 | BRCA2 | c.7856G>A (p.Trp2619Ter) c.7487G>A (p.Trp2496Ter) c.323G>A (p.Trp108Ter) c.7864G>A (p.Gly2622Arg) c.421G>A n.7864G>A c.7760G>A (p.Trp2587Ter) | ClinVar dbSNP |
13 | g.32362573G>C | CA025310 | BRCA2 | c.7856G>C (p.Trp2619Ser) c.7487G>C (p.Trp2496Ser) c.323G>C (p.Trp108Ser) c.7864G>C (p.Gly2622Arg) c.421G>C n.7864G>C c.7760G>C (p.Trp2587Ser) | ClinVar dbSNP |
13 | g.32362573G= | CA2082830822 | BRCA2 | c.7856G= (p.Trp2619=) c.7487G= (p.Trp2496=) c.323G= (p.Trp108=) c.7864G= (p.Gly2622=) c.421G= n.7864G= c.7760G= (p.Trp2587=) | |
13 | g.32362573G>T | CA387747059 | BRCA2 | c.7856G>T (p.Trp2619Leu) c.7487G>T (p.Trp2496Leu) c.323G>T (p.Trp108Leu) c.7864G>T (p.Gly2622Trp) c.421G>T n.7864G>T c.7760G>T (p.Trp2587Leu) | dbSNP |
13 | g.32362575del | CA10586581 | BRCA2 | c.7858del (p.Val2620PhefsTer28) c.7489del (p.Val2497PhefsTer28) c.325del (p.Val109PhefsTer28) c.7866del (p.Phe2623LeufsTer2) c.423del n.7866del c.7762del (p.Val2588PhefsTer28) | ClinVar dbSNP |
13 | g.32362574G>A | CA025311 | BRCA2 | c.7857G>A (p.Trp2619Ter) c.7488G>A (p.Trp2496Ter) c.324G>A (p.Trp108Ter) c.7865G>A (p.Gly2622Glu) c.422G>A n.7865G>A c.7761G>A (p.Trp2587Ter) | ClinVar dbSNP |
13 | g.32362574G>C | CA387747060 | BRCA2 | c.7857G>C (p.Trp2619Cys) c.7488G>C (p.Trp2496Cys) c.324G>C (p.Trp108Cys) c.7865G>C (p.Gly2622Ala) c.422G>C n.7865G>C c.7761G>C (p.Trp2587Cys) | ClinVar dbSNP |
13 | g.32362574G= | CA2082830835 | BRCA2 | c.7857G= (p.Trp2619=) c.7488G= (p.Trp2496=) c.324G= (p.Trp108=) c.7865G= (p.Gly2622=) c.422G= n.7865G= c.7761G= (p.Trp2587=) | |
13 | g.32362574G>T | CA387747061 | BRCA2 | c.7857G>T (p.Trp2619Cys) c.7488G>T (p.Trp2496Cys) c.324G>T (p.Trp108Cys) c.7865G>T (p.Gly2622Val) c.422G>T n.7865G>T c.7761G>T (p.Trp2587Cys) | dbSNP |
13 | g.32362575G>A | CA387747062 | BRCA2 | c.7858G>A (p.Val2620Ile) c.7489G>A (p.Val2497Ile) c.325G>A (p.Val109Ile) c.7866G>A (p.Gly2622=) c.423G>A n.7866G>A c.7762G>A (p.Val2588Ile) | ClinVar dbSNP |
13 | g.32362575G>C | CA387747063 | BRCA2 | c.7858G>C (p.Val2620Leu) c.7489G>C (p.Val2497Leu) c.325G>C (p.Val109Leu) c.7866G>C (p.Gly2622=) c.423G>C n.7866G>C c.7762G>C (p.Val2588Leu) | |
13 | g.32362575G>T | CA387747064 | BRCA2 | c.7858G>T (p.Val2620Phe) c.7489G>T (p.Val2497Phe) c.325G>T (p.Val109Phe) c.7866G>T (p.Gly2622=) c.423G>T n.7866G>T c.7762G>T (p.Val2588Phe) | ClinVar |
13 | g.32362575_32362576del | CA2582341812 | BRCA2 | c.7858_7859del (p.Val2620LeufsTer2) c.7489_7490del (p.Val2497LeufsTer2) c.325_326del (p.Val109LeufsTer2) c.7866_7867del (p.Phe2623TyrfsTer?) c.423_424del n.7866_7867del c.7762_7763del (p.Val2588LeufsTer2) | ClinVar |
13 | g.32362575_32362576delinsGT | CA2082830848 | BRCA2 | c.7858_7859delinsGT (p.Val2620=) c.7489_7490delinsGT (p.Val2497=) c.325_326delinsGT (p.Val109=) c.7866_7867delinsGT (p.Gly2622=) c.423_424delinsGT n.7866_7867delinsGT c.7762_7763delinsGT (p.Val2588=) | |
13 | g.32362576T>A | CA387747066 | BRCA2 | c.7859T>A (p.Val2620Asp) c.7490T>A (p.Val2497Asp) c.326T>A (p.Val109Asp) c.7867T>A (p.Phe2623Ile) c.424T>A n.7867T>A c.7763T>A (p.Val2588Asp) | ClinVar dbSNP |
13 | g.32362576T>C | CA387747067 | BRCA2 | c.7859T>C (p.Val2620Ala) c.7490T>C (p.Val2497Ala) c.326T>C (p.Val109Ala) c.7867T>C (p.Phe2623Leu) c.424T>C n.7867T>C c.7763T>C (p.Val2588Ala) | |
13 | g.32362576T>G | CA387747065 | BRCA2 | c.7859T>G (p.Val2620Gly) c.7490T>G (p.Val2497Gly) c.326T>G (p.Val109Gly) c.7867T>G (p.Phe2623Val) c.424T>G n.7867T>G c.7763T>G (p.Val2588Gly) | |
13 | g.32362578del | CA10589453 | BRCA2 | c.7861del (p.Tyr2621IlefsTer27) c.7492del (p.Tyr2498IlefsTer27) c.328del (p.Tyr110IlefsTer27) c.7869del (p.Phe2623LeufsTer2) c.426del n.7869del c.7765del (p.Tyr2589IlefsTer27) | ClinVar dbSNP |
13 | g.32362577T>A | CA483260890 | BRCA2 | c.7860T>A (p.Val2620=) c.7491T>A (p.Val2497=) c.327T>A (p.Val109=) c.7868T>A (p.Phe2623Tyr) c.425T>A n.7868T>A c.7764T>A (p.Val2588=) | |
13 | g.32362577T>C | CA483260891 | BRCA2 | c.7860T>C (p.Val2620=) c.7491T>C (p.Val2497=) c.327T>C (p.Val109=) c.7868T>C (p.Phe2623Ser) c.425T>C n.7868T>C c.7764T>C (p.Val2588=) | dbSNP |
13 | g.32362577T>G | CA483260892 | BRCA2 | c.7860T>G (p.Val2620=) c.7491T>G (p.Val2497=) c.327T>G (p.Val109=) c.7868T>G (p.Phe2623Cys) c.425T>G n.7868T>G c.7764T>G (p.Val2588=) | |
13 | g.32362578T>A | CA387747068 | BRCA2 | c.7861T>A (p.Tyr2621Asn) c.7492T>A (p.Tyr2498Asn) c.328T>A (p.Tyr110Asn) c.7869T>A (p.Phe2623Leu) c.426T>A n.7869T>A c.7765T>A (p.Tyr2589Asn) | dbSNP |
13 | g.32362578T>C | CA387747069 | BRCA2 | c.7861T>C (p.Tyr2621His) c.7492T>C (p.Tyr2498His) c.328T>C (p.Tyr110His) c.7869T>C (p.Phe2623=) c.426T>C n.7869T>C c.7765T>C (p.Tyr2589His) | dbSNP |
13 | g.32362578T>G | CA387747070 | BRCA2 | c.7861T>G (p.Tyr2621Asp) c.7492T>G (p.Tyr2498Asp) c.328T>G (p.Tyr110Asp) c.7869T>G (p.Phe2623Leu) c.426T>G n.7869T>G c.7765T>G (p.Tyr2589Asp) | |
13 | g.32362579A= | CA2082830859 | BRCA2 | c.7862A= (p.Tyr2621=) c.7493A= (p.Tyr2498=) c.329A= (p.Tyr110=) c.7870A= (p.Ile2624=) c.427A= n.7870A= c.7766A= (p.Tyr2589=) | |
13 | g.32362579A>C | CA387747071 | BRCA2 | c.7862A>C (p.Tyr2621Ser) c.7493A>C (p.Tyr2498Ser) c.329A>C (p.Tyr110Ser) c.7870A>C (p.Ile2624Leu) c.427A>C n.7870A>C c.7766A>C (p.Tyr2589Ser) | |
13 | g.32362579A>G | CA387747072 | BRCA2 | c.7862A>G (p.Tyr2621Cys) c.7493A>G (p.Tyr2498Cys) c.329A>G (p.Tyr110Cys) c.7870A>G (p.Ile2624Val) c.427A>G n.7870A>G c.7766A>G (p.Tyr2589Cys) | ClinVar gnomAD v4 |
13 | g.32362579A>T | CA387747073 | BRCA2 | c.7862A>T (p.Tyr2621Phe) c.7493A>T (p.Tyr2498Phe) c.329A>T (p.Tyr110Phe) c.7870A>T (p.Ile2624Leu) c.427A>T n.7870A>T c.7766A>T (p.Tyr2589Phe) | ClinVar dbSNP |
13 | g.32362580T>A | CA025312 | BRCA2 | c.7863T>A (p.Tyr2621Ter) c.7494T>A (p.Tyr2498Ter) c.330T>A (p.Tyr110Ter) c.7871T>A (p.Ile2624Lys) c.428T>A n.7871T>A c.7767T>A (p.Tyr2589Ter) | ClinVar dbSNP |
13 | g.32362580T>C | CA483260894 | BRCA2 | c.7863T>C (p.Tyr2621=) c.7494T>C (p.Tyr2498=) c.330T>C (p.Tyr110=) c.7871T>C (p.Ile2624Thr) c.428T>C n.7871T>C c.7767T>C (p.Tyr2589=) | |
13 | g.32362580T>G | CA387747074 | BRCA2 | c.7863T>G (p.Tyr2621Ter) c.7494T>G (p.Tyr2498Ter) c.330T>G (p.Tyr110Ter) c.7871T>G (p.Ile2624Arg) c.428T>G n.7871T>G c.7767T>G (p.Tyr2589Ter) | |
13 | g.32362580T= | CA2082830868 | BRCA2 | c.7863T= (p.Tyr2621=) c.7494T= (p.Tyr2498=) c.330T= (p.Tyr110=) c.7871T= (p.Ile2624=) c.428T= n.7871T= c.7767T= (p.Tyr2589=) | |
13 | g.32362581A= | CA2082830897 | BRCA2 | c.7864A= (p.Asn2622=) c.7495A= (p.Asn2499=) c.331A= (p.Asn111=) c.7872A= (p.Ile2624=) c.429A= n.7872A= c.7768A= (p.Asn2590=) | |
13 | g.32362581A>C | CA387747075 | BRCA2 | c.7864A>C (p.Asn2622His) c.7495A>C (p.Asn2499His) c.331A>C (p.Asn111His) c.7872A>C (p.Ile2624=) c.429A>C n.7872A>C c.7768A>C (p.Asn2590His) | |
13 | g.32362581A>G | CA387747076 | BRCA2 | c.7864A>G (p.Asn2622Asp) c.7495A>G (p.Asn2499Asp) c.331A>G (p.Asn111Asp) c.7872A>G (p.Ile2624Met) c.429A>G n.7872A>G c.7768A>G (p.Asn2590Asp) | ClinVar dbSNP |
13 | g.32362581A>T | CA387747077 | BRCA2 | c.7864A>T (p.Asn2622Tyr) c.7495A>T (p.Asn2499Tyr) c.331A>T (p.Asn111Tyr) c.7872A>T (p.Ile2624=) c.429A>T n.7872A>T c.7768A>T (p.Asn2590Tyr) | dbSNP |
13 | g.32362582dup | CA10589454 | BRCA2 | c.7865dup (p.Asn2622LysfsTer4) c.7496dup (p.Asn2499LysfsTer4) c.332dup (p.Asn111LysfsTer4) c.7873dup (p.Ile2625AsnfsTer?) c.430dup n.7873dup c.7769dup (p.Asn2590LysfsTer4) | ClinVar dbSNP |
13 | g.32362582del | CA2727841626 | BRCA2 | c.7865del (p.Asn2622IlefsTer26) c.7496del (p.Asn2499IlefsTer26) c.332del (p.Asn111IlefsTer26) c.7873del (p.Ile2625SerfsTer3) c.430del n.7873del c.7769del (p.Asn2590IlefsTer26) | dbSNP |
13 | g.32362582A= | CA2082830905 | BRCA2 | c.7865A= (p.Asn2622=) c.7496A= (p.Asn2499=) c.332A= (p.Asn111=) c.7873A= (p.Ile2625=) c.430A= n.7873A= c.7769A= (p.Asn2590=) | |
13 | g.32362582A>C | CA387747079 | BRCA2 | c.7865A>C (p.Asn2622Thr) c.7496A>C (p.Asn2499Thr) c.332A>C (p.Asn111Thr) c.7873A>C (p.Ile2625Leu) c.430A>C n.7873A>C c.7769A>C (p.Asn2590Thr) | ClinVar dbSNP |
13 | g.32362582A>G | CA025313 | BRCA2 | c.7865A>G (p.Asn2622Ser) c.7496A>G (p.Asn2499Ser) c.332A>G (p.Asn111Ser) c.7873A>G (p.Ile2625Val) c.430A>G n.7873A>G c.7769A>G (p.Asn2590Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362582A>T | CA387747078 | BRCA2 | c.7865A>T (p.Asn2622Ile) c.7496A>T (p.Asn2499Ile) c.332A>T (p.Asn111Ile) c.7873A>T (p.Ile2625Phe) c.430A>T n.7873A>T c.7769A>T (p.Asn2590Ile) | ClinVar dbSNP |
13 | g.32362583T>A | CA387747080 | BRCA2 | c.7866T>A (p.Asn2622Lys) c.7497T>A (p.Asn2499Lys) c.333T>A (p.Asn111Lys) c.7874T>A (p.Ile2625Asn) c.431T>A n.7874T>A c.7770T>A (p.Asn2590Lys) | |
13 | g.32362583T>C | CA483260897 | BRCA2 | c.7866T>C (p.Asn2622=) c.7497T>C (p.Asn2499=) c.333T>C (p.Asn111=) c.7874T>C (p.Ile2625Thr) c.431T>C n.7874T>C c.7770T>C (p.Asn2590=) | |
13 | g.32362583T>G | CA387747081 | BRCA2 | c.7866T>G (p.Asn2622Lys) c.7497T>G (p.Asn2499Lys) c.333T>G (p.Asn111Lys) c.7874T>G (p.Ile2625Ser) c.431T>G n.7874T>G c.7770T>G (p.Asn2590Lys) | |
13 | g.32362584C>A | CA387747082 | BRCA2 | c.7867C>A (p.His2623Asn) c.7498C>A (p.His2500Asn) c.334C>A (p.His112Asn) c.7875C>A (p.Ile2625=) c.432C>A n.7875C>A c.7771C>A (p.His2591Asn) | ClinVar |
13 | g.32362584C= | CA2082830910 | BRCA2 | c.7867C= (p.His2623=) c.7498C= (p.His2500=) c.334C= (p.His112=) c.7875C= (p.Ile2625=) c.432C= n.7875C= c.7771C= (p.His2591=) | |
13 | g.32362584C>G | CA387747083 | BRCA2 | c.7867C>G (p.His2623Asp) c.7498C>G (p.His2500Asp) c.334C>G (p.His112Asp) c.7875C>G (p.Ile2625Met) c.432C>G n.7875C>G c.7771C>G (p.His2591Asp) | |
13 | g.32362584C>T | CA387747084 | BRCA2 | c.7867C>T (p.His2623Tyr) c.7498C>T (p.His2500Tyr) c.334C>T (p.His112Tyr) c.7875C>T (p.Ile2625=) c.432C>T n.7875C>T c.7771C>T (p.His2591Tyr) | ClinVar dbSNP |
13 | g.32362585A= | CA2082830918 | BRCA2 | c.7868A= (p.His2623=) c.7499A= (p.His2500=) c.335A= (p.His112=) c.7876A= (p.Thr2626=) c.433A= n.7876A= c.7772A= (p.His2591=) | |
13 | g.32362585A>C | CA387747086 | BRCA2 | c.7868A>C (p.His2623Pro) c.7499A>C (p.His2500Pro) c.335A>C (p.His112Pro) c.7876A>C (p.Thr2626Pro) c.433A>C n.7876A>C c.7772A>C (p.His2591Pro) | ClinVar |
13 | g.32362585A>G | CA025314 | BRCA2 | c.7868A>G (p.His2623Arg) c.7499A>G (p.His2500Arg) c.335A>G (p.His112Arg) c.7876A>G (p.Thr2626Ala) c.433A>G n.7876A>G c.7772A>G (p.His2591Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32362585A>T | CA387747085 | BRCA2 | c.7868A>T (p.His2623Leu) c.7499A>T (p.His2500Leu) c.335A>T (p.His112Leu) c.7876A>T (p.Thr2626Ser) c.433A>T n.7876A>T c.7772A>T (p.His2591Leu) | ClinVar dbSNP |
13 | g.32362586C>A | CA387747087 | BRCA2 | c.7869C>A (p.His2623Gln) c.7500C>A (p.His2500Gln) c.336C>A (p.His112Gln) c.7877C>A (p.Thr2626Asn) c.434C>A n.7877C>A c.7773C>A (p.His2591Gln) | dbSNP |
13 | g.32362586C= | CA2082830927 | BRCA2 | c.7869C= (p.His2623=) c.7500C= (p.His2500=) c.336C= (p.His112=) c.7877C= (p.Thr2626=) c.434C= n.7877C= c.7773C= (p.His2591=) | |
13 | g.32362586C>G | CA387747088 | BRCA2 | c.7869C>G (p.His2623Gln) c.7500C>G (p.His2500Gln) c.336C>G (p.His112Gln) c.7877C>G (p.Thr2626Ser) c.434C>G n.7877C>G c.7773C>G (p.His2591Gln) | dbSNP |
13 | g.32362586C>T | CA483260899 | BRCA2 | c.7869C>T (p.His2623=) c.7500C>T (p.His2500=) c.336C>T (p.His112=) c.7877C>T (p.Thr2626Ile) c.434C>T n.7877C>T c.7773C>T (p.His2591=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362586_32362588delinsCTA | CA2082830926 | BRCA2 | c.7869_7871delinsCTA (p.His2623=) c.7500_7502delinsCTA (p.His2500=) c.336_338delinsCTA (p.His112=) c.7877_7879delinsCTA (p.Thr2626=) c.434_436delinsCTA n.7877_7879delinsCTA c.7773_7775delinsCTA (p.His2591=) | |
13 | g.32362587T>A | CA387747089 | BRCA2 | c.7870T>A (p.Tyr2624Asn) c.7501T>A (p.Tyr2501Asn) c.337T>A (p.Tyr113Asn) c.7878T>A (p.Thr2626=) c.435T>A n.7878T>A c.7774T>A (p.Tyr2592Asn) | dbSNP |
13 | g.32362587T>C | CA387747090 | BRCA2 | c.7870T>C (p.Tyr2624His) c.7501T>C (p.Tyr2501His) c.337T>C (p.Tyr113His) c.7878T>C (p.Thr2626=) c.435T>C n.7878T>C c.7774T>C (p.Tyr2592His) | ClinVar dbSNP |
13 | g.32362587T>G | CA387747091 | BRCA2 | c.7870T>G (p.Tyr2624Asp) c.7501T>G (p.Tyr2501Asp) c.337T>G (p.Tyr113Asp) c.7878T>G (p.Thr2626=) c.435T>G n.7878T>G c.7774T>G (p.Tyr2592Asp) | ClinVar |
13 | g.32362587T= | CA2082830936 | BRCA2 | c.7870T= (p.Tyr2624=) c.7501T= (p.Tyr2501=) c.337T= (p.Tyr113=) c.7878T= (p.Thr2626=) c.435T= n.7878T= c.7774T= (p.Tyr2592=) | |
13 | g.32362589_32362590del | CA025316 | BRCA2 | c.7872_7873del (p.Tyr2624Ter) c.7503_7504del (p.Tyr2501Ter) c.339_340del (p.Tyr113Ter) c.7880_7881del (p.Ile2627ArgfsTer?) c.437_438del n.7880_7881del c.7776_7777del (p.Tyr2592Ter) | ClinVar dbSNP |
13 | g.32362588A= | CA2082830962 | BRCA2 | c.7871A= (p.Tyr2624=) c.7502A= (p.Tyr2501=) c.338A= (p.Tyr113=) c.7879A= (p.Ile2627=) c.436A= n.7879A= c.7775A= (p.Tyr2592=) | |
13 | g.32362588A>C | CA387747093 | BRCA2 | c.7871A>C (p.Tyr2624Ser) c.7502A>C (p.Tyr2501Ser) c.338A>C (p.Tyr113Ser) c.7879A>C (p.Ile2627Leu) c.436A>C n.7879A>C c.7775A>C (p.Tyr2592Ser) | |
13 | g.32362588A>G | CA025315 | BRCA2 | c.7871A>G (p.Tyr2624Cys) c.7502A>G (p.Tyr2501Cys) c.338A>G (p.Tyr113Cys) c.7879A>G (p.Ile2627Val) c.436A>G n.7879A>G c.7775A>G (p.Tyr2592Cys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32362588A>T | CA387747092 | BRCA2 | c.7871A>T (p.Tyr2624Phe) c.7502A>T (p.Tyr2501Phe) c.338A>T (p.Tyr113Phe) c.7879A>T (p.Ile2627Leu) c.436A>T n.7879A>T c.7775A>T (p.Tyr2592Phe) | dbSNP |
13 | g.32362589T>A | CA387747094 | BRCA2 | c.7872T>A (p.Tyr2624Ter) c.7503T>A (p.Tyr2501Ter) c.339T>A (p.Tyr113Ter) c.7880T>A (p.Ile2627Lys) c.437T>A n.7880T>A c.7776T>A (p.Tyr2592Ter) | dbSNP |
13 | g.32362589T>C | CA10583136 | BRCA2 | c.7872T>C (p.Tyr2624=) c.7503T>C (p.Tyr2501=) c.339T>C (p.Tyr113=) c.7880T>C (p.Ile2627Thr) c.437T>C n.7880T>C c.7776T>C (p.Tyr2592=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362589T>G | CA339124 | BRCA2 | c.7872T>G (p.Tyr2624Ter) c.7503T>G (p.Tyr2501Ter) c.339T>G (p.Tyr113Ter) c.7880T>G (p.Ile2627Arg) c.437T>G n.7880T>G c.7776T>G (p.Tyr2592Ter) | ClinVar dbSNP |
13 | g.32362589T= | CA2082830969 | BRCA2 | c.7872T= (p.Tyr2624=) c.7503T= (p.Tyr2501=) c.339T= (p.Tyr113=) c.7880T= (p.Ile2627=) c.437T= n.7880T= c.7776T= (p.Tyr2592=) | |
13 | g.32362590A>C | CA483260903 | BRCA2 | c.7873A>C (p.Arg2625=) c.7504A>C (p.Arg2502=) c.340A>C (p.Arg114=) c.7881A>C (p.Ile2627=) c.438A>C n.7881A>C c.7777A>C (p.Arg2593=) | ClinVar dbSNP |
13 | g.32362590A>G | CA387747096 | BRCA2 | c.7873A>G (p.Arg2625Gly) c.7504A>G (p.Arg2502Gly) c.340A>G (p.Arg114Gly) c.7881A>G (p.Ile2627Met) c.438A>G n.7881A>G c.7777A>G (p.Arg2593Gly) | ClinVar dbSNP |
13 | g.32362590A>T | CA387747095 | BRCA2 | c.7873A>T (p.Arg2625Ter) c.7504A>T (p.Arg2502Ter) c.340A>T (p.Arg114Ter) c.7881A>T (p.Ile2627=) c.438A>T n.7881A>T c.7777A>T (p.Arg2593Ter) | |
13 | g.32362591G>A | CA348618 | BRCA2 | c.7874G>A (p.Arg2625Lys) c.7505G>A (p.Arg2502Lys) c.341G>A (p.Arg114Lys) c.7882G>A (p.Asp2628Asn) c.439G>A n.7882G>A c.7778G>A (p.Arg2593Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362591G>C | CA387747097 | BRCA2 | c.7874G>C (p.Arg2625Thr) c.7505G>C (p.Arg2502Thr) c.341G>C (p.Arg114Thr) c.7882G>C (p.Asp2628His) c.439G>C n.7882G>C c.7778G>C (p.Arg2593Thr) | dbSNP |
13 | g.32362591G= | CA2082830981 | BRCA2 | c.7874G= (p.Arg2625=) c.7505G= (p.Arg2502=) c.341G= (p.Arg114=) c.7882G= (p.Asp2628=) c.439G= n.7882G= c.7778G= (p.Arg2593=) | |
13 | g.32362591G>T | CA16619772 | BRCA2 | c.7874G>T (p.Arg2625Ile) c.7505G>T (p.Arg2502Ile) c.341G>T (p.Arg114Ile) c.7882G>T (p.Asp2628Tyr) c.439G>T n.7882G>T c.7778G>T (p.Arg2593Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32362592A>C | CA387747098 | BRCA2 | c.7875A>C (p.Arg2625Ser) c.7506A>C (p.Arg2502Ser) c.342A>C (p.Arg114Ser) c.7883A>C (p.Asp2628Ala) c.440A>C n.7883A>C c.7779A>C (p.Arg2593Ser) | |
13 | g.32362592A>G | CA483260908 | BRCA2 | c.7875A>G (p.Arg2625=) c.7506A>G (p.Arg2502=) c.342A>G (p.Arg114=) c.7883A>G (p.Asp2628Gly) c.440A>G n.7883A>G c.7779A>G (p.Arg2593=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362592A>T | CA387747099 | BRCA2 | c.7875A>T (p.Arg2625Ser) c.7506A>T (p.Arg2502Ser) c.342A>T (p.Arg114Ser) c.7883A>T (p.Asp2628Val) c.440A>T n.7883A>T c.7779A>T (p.Arg2593Ser) | ClinVar gnomAD v4 |
13 | g.32362592dup | CA915946881 | BRCA2 | c.7875dup (p.Trp2626MetfsTer15) c.7506dup (p.Trp2503MetfsTer15) c.342dup (p.Trp115MetfsTer15) c.7883dup (p.Asp2628GlufsTer?) c.440dup n.7883dup c.7779dup (p.Trp2594MetfsTer15) | ClinVar dbSNP |
13 | g.32362593T>A | CA16614217 | BRCA2 | c.7876T>A (p.Trp2626Arg) c.7507T>A (p.Trp2503Arg) c.343T>A (p.Trp115Arg) c.7884T>A (p.Asp2628Glu) c.441T>A n.7884T>A c.7780T>A (p.Trp2594Arg) | ClinVar dbSNP |
13 | g.32362593T>C | CA387747100 | BRCA2 | c.7876T>C (p.Trp2626Arg) c.7507T>C (p.Trp2503Arg) c.343T>C (p.Trp115Arg) c.7884T>C (p.Asp2628=) c.441T>C n.7884T>C c.7780T>C (p.Trp2594Arg) | ClinVar dbSNP |
13 | g.32362593T>G | CA387747101 | BRCA2 | c.7876T>G (p.Trp2626Gly) c.7507T>G (p.Trp2503Gly) c.343T>G (p.Trp115Gly) c.7884T>G (p.Asp2628Glu) c.441T>G n.7884T>G c.7780T>G (p.Trp2594Gly) | gnomAD v4 |
13 | g.32362593T= | CA2082831005 | BRCA2 | c.7876T= (p.Trp2626=) c.7507T= (p.Trp2503=) c.343T= (p.Trp115=) c.7884T= (p.Asp2628=) c.441T= n.7884T= c.7780T= (p.Trp2594=) | |
13 | g.32362593_32362594delinsTG | CA2082831012 | BRCA2 | c.7876_7877delinsTG (p.Trp2626=) c.7507_7508delinsTG (p.Trp2503=) c.343_344delinsTG (p.Trp115=) c.7884_7885delinsTG (p.Asp2628=) c.441_442delinsTG n.7884_7885delinsTG c.7780_7781delinsTG (p.Trp2594=) | |
13 | g.32362594G>A | CA025317 | BRCA2 | c.7877G>A (p.Trp2626Ter) c.7508G>A (p.Trp2503Ter) c.344G>A (p.Trp115Ter) c.7885G>A (p.Gly2629Arg) c.442G>A n.7885G>A c.7781G>A (p.Trp2594Ter) | ClinVar dbSNP |
13 | g.32362594G>C | CA387747102 | BRCA2 | c.7877G>C (p.Trp2626Ser) c.7508G>C (p.Trp2503Ser) c.344G>C (p.Trp115Ser) c.7885G>C (p.Gly2629Arg) c.442G>C n.7885G>C c.7781G>C (p.Trp2594Ser) | |
13 | g.32362594G= | CA2082831089 | BRCA2 | c.7877G= (p.Trp2626=) c.7508G= (p.Trp2503=) c.344G= (p.Trp115=) c.7885G= (p.Gly2629=) c.442G= n.7885G= c.7781G= (p.Trp2594=) | |
13 | g.32362594G>T | CA387747103 | BRCA2 | c.7877G>T (p.Trp2626Leu) c.7508G>T (p.Trp2503Leu) c.344G>T (p.Trp115Leu) c.7885G>T (p.Gly2629Ter) c.442G>T n.7885G>T c.7781G>T (p.Trp2594Leu) | COSMIC COSMIC |
13 | g.32362595del | CA658653812 | BRCA2 | c.7878del (p.Trp2626Ter) c.7509del (p.Trp2503Ter) c.345del (p.Trp115Ter) c.7886del (p.Gly2629AspfsTer14) c.443del n.7886del c.7782del (p.Trp2594Ter) | ClinVar dbSNP |
13 | g.32362595G>A | CA025318 | BRCA2 | c.7878G>A (p.Trp2626Ter) c.7509G>A (p.Trp2503Ter) c.345G>A (p.Trp115Ter) c.7886G>A (p.Gly2629Glu) c.443G>A n.7886G>A c.7782G>A (p.Trp2594Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362595G>C | CA025319 | BRCA2 | c.7878G>C (p.Trp2626Cys) c.7509G>C (p.Trp2503Cys) c.345G>C (p.Trp115Cys) c.7886G>C (p.Gly2629Ala) c.443G>C n.7886G>C c.7782G>C (p.Trp2594Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32362595G= | CA2082831105 | BRCA2 | c.7878G= (p.Trp2626=) c.7509G= (p.Trp2503=) c.345G= (p.Trp115=) c.7886G= (p.Gly2629=) c.443G= n.7886G= c.7782G= (p.Trp2594=) | |
13 | g.32362595G>T | CA387747104 | BRCA2 | c.7878G>T (p.Trp2626Cys) c.7509G>T (p.Trp2503Cys) c.345G>T (p.Trp115Cys) c.7886G>T (p.Gly2629Val) c.443G>T n.7886G>T c.7782G>T (p.Trp2594Cys) | ClinVar dbSNP |
13 | g.32362595_32362598dup | CA10589455 | BRCA2 | c.7878_7881dup (p.Ile2628AspfsTer14) c.7509_7512dup (p.Ile2505AspfsTer14) c.345_348dup (p.Ile117AspfsTer14) c.7886_7889dup (p.Tyr2631IlefsTer?) c.443_446dup n.7886_7889dup c.7782_7785dup (p.Ile2596AspfsTer14) | ClinVar dbSNP |
13 | g.32362596A= | CA2082831118 | BRCA2 | c.7879A= (p.Ile2627=) c.7510A= (p.Ile2504=) c.346A= (p.Ile116=) c.7887A= (p.Gly2629=) c.444A= n.7887A= c.7783A= (p.Ile2595=) | |
13 | g.32362596A>C | CA387747105 | BRCA2 | c.7879A>C (p.Ile2627Leu) c.7510A>C (p.Ile2504Leu) c.346A>C (p.Ile116Leu) c.7887A>C (p.Gly2629=) c.444A>C n.7887A>C c.7783A>C (p.Ile2595Leu) | |
13 | g.32362596A>G | CA025320 | BRCA2 | c.7879A>G (p.Ile2627Val) c.7510A>G (p.Ile2504Val) c.346A>G (p.Ile116Val) c.7887A>G (p.Gly2629=) c.444A>G n.7887A>G c.7783A>G (p.Ile2595Val) | ClinVar dbSNP |
13 | g.32362596A>T | CA025321 | BRCA2 | c.7879A>T (p.Ile2627Phe) c.7510A>T (p.Ile2504Phe) c.346A>T (p.Ile116Phe) c.7887A>T (p.Gly2629=) c.444A>T n.7887A>T c.7783A>T (p.Ile2595Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.32362597T>A | CA10579758 | BRCA2 | c.7880T>A (p.Ile2627Asn) c.7511T>A (p.Ile2504Asn) c.347T>A (p.Ile116Asn) c.7888T>A (p.Ser2630Thr) c.445T>A n.7888T>A c.7784T>A (p.Ile2595Asn) | ClinVar dbSNP |
13 | g.32362597T>C | CA387747106 | BRCA2 | c.7880T>C (p.Ile2627Thr) c.7511T>C (p.Ile2504Thr) c.347T>C (p.Ile116Thr) c.7888T>C (p.Ser2630Pro) c.445T>C n.7888T>C c.7784T>C (p.Ile2595Thr) | |
13 | g.32362597T>G | CA387747107 | BRCA2 | c.7880T>G (p.Ile2627Ser) c.7511T>G (p.Ile2504Ser) c.347T>G (p.Ile116Ser) c.7888T>G (p.Ser2630Ala) c.445T>G n.7888T>G c.7784T>G (p.Ile2595Ser) | ClinVar dbSNP |
13 | g.32362597T= | CA2082831148 | BRCA2 | c.7880T= (p.Ile2627=) c.7511T= (p.Ile2504=) c.347T= (p.Ile116=) c.7888T= (p.Ser2630=) c.445T= n.7888T= c.7784T= (p.Ile2595=) | |
13 | g.32362598C>A | CA483260915 | BRCA2 | c.7881C>A (p.Ile2627=) c.7512C>A (p.Ile2504=) c.348C>A (p.Ile116=) c.7889C>A (p.Ser2630Ter) c.446C>A n.7889C>A c.7785C>A (p.Ile2595=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362598C= | CA2082831160 | BRCA2 | c.7881C= (p.Ile2627=) c.7512C= (p.Ile2504=) c.348C= (p.Ile116=) c.7889C= (p.Ser2630=) c.446C= n.7889C= c.7785C= (p.Ile2595=) | |
13 | g.32362598C>G | CA387747108 | BRCA2 | c.7881C>G (p.Ile2627Met) c.7512C>G (p.Ile2504Met) c.348C>G (p.Ile116Met) c.7889C>G (p.Ser2630Ter) c.446C>G n.7889C>G c.7785C>G (p.Ile2595Met) | dbSNP |
13 | g.32362598C>T | CA483260916 | BRCA2 | c.7881C>T (p.Ile2627=) c.7512C>T (p.Ile2504=) c.348C>T (p.Ile116=) c.7889C>T (p.Ser2630Leu) c.446C>T n.7889C>T c.7785C>T (p.Ile2595=) | dbSNP |
13 | g.32362599A= | CA2082831167 | BRCA2 | c.7882A= (p.Ile2628=) c.7513A= (p.Ile2505=) c.349A= (p.Ile117=) c.7890A= (p.Ser2630=) c.447A= n.7890A= c.7786A= (p.Ile2596=) | |
13 | g.32362599A>C | CA387747109 | BRCA2 | c.7882A>C (p.Ile2628Leu) c.7513A>C (p.Ile2505Leu) c.349A>C (p.Ile117Leu) c.7890A>C (p.Ser2630=) c.447A>C n.7890A>C c.7786A>C (p.Ile2596Leu) | |
13 | g.32362599A>G | CA387747110 | BRCA2 | c.7882A>G (p.Ile2628Val) c.7513A>G (p.Ile2505Val) c.349A>G (p.Ile117Val) c.7890A>G (p.Ser2630=) c.447A>G n.7890A>G c.7786A>G (p.Ile2596Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362599A>T | CA387747111 | BRCA2 | c.7882A>T (p.Ile2628Leu) c.7513A>T (p.Ile2505Leu) c.349A>T (p.Ile117Leu) c.7890A>T (p.Ser2630=) c.447A>T n.7890A>T c.7786A>T (p.Ile2596Leu) | ClinVar dbSNP |
13 | g.32362600T>A | CA387747112 | BRCA2 | c.7883T>A (p.Ile2628Lys) c.7514T>A (p.Ile2505Lys) c.350T>A (p.Ile117Lys) c.7891T>A (p.Tyr2631Asn) c.448T>A n.7891T>A c.7787T>A (p.Ile2596Lys) | dbSNP |
13 | g.32362600T>C | CA10586080 | BRCA2 | c.7883T>C (p.Ile2628Thr) c.7514T>C (p.Ile2505Thr) c.350T>C (p.Ile117Thr) c.7891T>C (p.Tyr2631His) c.448T>C n.7891T>C c.7787T>C (p.Ile2596Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362600T>G | CA387747113 | BRCA2 | c.7883T>G (p.Ile2628Arg) c.7514T>G (p.Ile2505Arg) c.350T>G (p.Ile117Arg) c.7891T>G (p.Tyr2631Asp) c.448T>G n.7891T>G c.7787T>G (p.Ile2596Arg) | |
13 | g.32362600T= | CA2082831174 | BRCA2 | c.7883T= (p.Ile2628=) c.7514T= (p.Ile2505=) c.350T= (p.Ile117=) c.7891T= (p.Tyr2631=) c.448T= n.7891T= c.7787T= (p.Ile2596=) | |
13 | g.32362601A= | CA2082831184 | BRCA2 | c.7884A= (p.Ile2628=) c.7515A= (p.Ile2505=) c.351A= (p.Ile117=) c.7892A= (p.Tyr2631=) c.449A= n.7892A= c.7788A= (p.Ile2596=) | |
13 | g.32362601A>C | CA483260917 | BRCA2 | c.7884A>C (p.Ile2628=) c.7515A>C (p.Ile2505=) c.351A>C (p.Ile117=) c.7892A>C (p.Tyr2631Ser) c.449A>C n.7892A>C c.7788A>C (p.Ile2596=) | |
13 | g.32362601A>G | CA6941162 | BRCA2 | c.7884A>G (p.Ile2628Met) c.7515A>G (p.Ile2505Met) c.351A>G (p.Ile117Met) c.7892A>G (p.Tyr2631Cys) c.449A>G n.7892A>G c.7788A>G (p.Ile2596Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362601A>T | CA483260922 | BRCA2 | c.7884A>T (p.Ile2628=) c.7515A>T (p.Ile2505=) c.351A>T (p.Ile117=) c.7892A>T (p.Tyr2631Phe) c.449A>T n.7892A>T c.7788A>T (p.Ile2596=) | ClinVar dbSNP |
13 | g.32362601dup | CA025322 | BRCA2 | c.7884dup (p.Trp2629MetfsTer12) c.7515dup (p.Trp2506MetfsTer12) c.351dup (p.Trp118MetfsTer12) c.7892dup (p.Tyr2631Ter) c.449dup n.7892dup c.7788dup (p.Trp2597MetfsTer12) | ClinVar dbSNP gnomAD v4 |
13 | g.32362602T>A | CA387747116 | BRCA2 | c.7885T>A (p.Trp2629Arg) c.7516T>A (p.Trp2506Arg) c.352T>A (p.Trp118Arg) c.7893T>A (p.Tyr2631Ter) c.450T>A n.7893T>A c.7789T>A (p.Trp2597Arg) | |
13 | g.32362602T>C | CA387747114 | BRCA2 | c.7885T>C (p.Trp2629Arg) c.7516T>C (p.Trp2506Arg) c.352T>C (p.Trp118Arg) c.7893T>C (p.Tyr2631=) c.450T>C n.7893T>C c.7789T>C (p.Trp2597Arg) | ClinVar |
13 | g.32362602T>G | CA387747115 | BRCA2 | c.7885T>G (p.Trp2629Gly) c.7516T>G (p.Trp2506Gly) c.352T>G (p.Trp118Gly) c.7893T>G (p.Tyr2631Ter) c.450T>G n.7893T>G c.7789T>G (p.Trp2597Gly) | |
13 | g.32362603G>A | CA025323 | BRCA2 | c.7886G>A (p.Trp2629Ter) c.7517G>A (p.Trp2506Ter) c.353G>A (p.Trp118Ter) c.7894G>A (p.Gly2632Arg) c.451G>A n.7894G>A c.7790G>A (p.Trp2597Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32362603G>C | CA387747117 | BRCA2 | c.7886G>C (p.Trp2629Ser) c.7517G>C (p.Trp2506Ser) c.353G>C (p.Trp118Ser) c.7894G>C (p.Gly2632Arg) c.451G>C n.7894G>C c.7790G>C (p.Trp2597Ser) | dbSNP |
13 | g.32362603G= | CA2082831197 | BRCA2 | c.7886G= (p.Trp2629=) c.7517G= (p.Trp2506=) c.353G= (p.Trp118=) c.7894G= (p.Gly2632=) c.451G= n.7894G= c.7790G= (p.Trp2597=) | |
13 | g.32362603G>T | CA387747118 | BRCA2 | c.7886G>T (p.Trp2629Leu) c.7517G>T (p.Trp2506Leu) c.353G>T (p.Trp118Leu) c.7894G>T (p.Gly2632Ter) c.451G>T n.7894G>T c.7790G>T (p.Trp2597Leu) | |
13 | g.32362603_32362614del | CA2499222313 | BRCA2 | c.7886_7897del (p.Trp2629_Ala2633delinsSer) c.7517_7528del (p.Trp2506_Ala2510delinsSer) c.353_364del (p.Trp118_Ala122delinsSer) c.7894_7905del (p.Gly2632_Gln2635del) c.451_462del n.7894_7905del c.7790_7801del (p.Trp2597_Ala2601delinsSer) | ClinVar dbSNP |
13 | g.32362604G>A | CA10589456 | BRCA2 | c.7887G>A (p.Trp2629Ter) c.7518G>A (p.Trp2506Ter) c.354G>A (p.Trp118Ter) c.7895G>A (p.Gly2632Glu) c.452G>A n.7895G>A c.7791G>A (p.Trp2597Ter) | ClinVar dbSNP |
13 | g.32362604G>C | CA387747119 | BRCA2 | c.7887G>C (p.Trp2629Cys) c.7518G>C (p.Trp2506Cys) c.354G>C (p.Trp118Cys) c.7895G>C (p.Gly2632Ala) c.452G>C n.7895G>C c.7791G>C (p.Trp2597Cys) | dbSNP |
13 | g.32362604G= | CA2082831212 | BRCA2 | c.7887G= (p.Trp2629=) c.7518G= (p.Trp2506=) c.354G= (p.Trp118=) c.7895G= (p.Gly2632=) c.452G= n.7895G= c.7791G= (p.Trp2597=) | |
13 | g.32362604G>T | CA387747120 | BRCA2 | c.7887G>T (p.Trp2629Cys) c.7518G>T (p.Trp2506Cys) c.354G>T (p.Trp118Cys) c.7895G>T (p.Gly2632Val) c.452G>T n.7895G>T c.7791G>T (p.Trp2597Cys) | ClinVar dbSNP |
13 | g.32362605A= | CA2082831225 | BRCA2 | c.7888A= (p.Lys2630=) c.7519A= (p.Lys2507=) c.355A= (p.Lys119=) c.7896A= (p.Gly2632=) c.453A= n.7896A= c.7792A= (p.Lys2598=) | |
13 | g.32362605A>C | CA387747122 | BRCA2 | c.7888A>C (p.Lys2630Gln) c.7519A>C (p.Lys2507Gln) c.355A>C (p.Lys119Gln) c.7896A>C (p.Gly2632=) c.453A>C n.7896A>C c.7792A>C (p.Lys2598Gln) | ClinVar dbSNP |
13 | g.32362605A>G | CA387747123 | BRCA2 | c.7888A>G (p.Lys2630Glu) c.7519A>G (p.Lys2507Glu) c.355A>G (p.Lys119Glu) c.7896A>G (p.Gly2632=) c.453A>G n.7896A>G c.7792A>G (p.Lys2598Glu) | ClinVar dbSNP |
13 | g.32362605A>T | CA387747121 | BRCA2 | c.7888A>T (p.Lys2630Ter) c.7519A>T (p.Lys2507Ter) c.355A>T (p.Lys119Ter) c.7896A>T (p.Gly2632=) c.453A>T n.7896A>T c.7792A>T (p.Lys2598Ter) | |
13 | g.32362606_32362607dup | CA025324 | BRCA2 | c.7889_7890dup (p.Leu2631AsnfsTer18) c.7520_7521dup (p.Leu2508AsnfsTer18) c.356_357dup (p.Leu120AsnfsTer18) c.7897_7898dup (p.Asn2633LysfsTer11) c.454_455dup n.7897_7898dup c.7793_7794dup (p.Leu2599AsnfsTer18) | ClinVar dbSNP |
13 | g.32362606A>C | CA387747124 | BRCA2 | c.7889A>C (p.Lys2630Thr) c.7520A>C (p.Lys2507Thr) c.356A>C (p.Lys119Thr) c.7897A>C (p.Asn2633His) c.454A>C n.7897A>C c.7793A>C (p.Lys2598Thr) | |
13 | g.32362606A>G | CA387747125 | BRCA2 | c.7889A>G (p.Lys2630Arg) c.7520A>G (p.Lys2507Arg) c.356A>G (p.Lys119Arg) c.7897A>G (p.Asn2633Asp) c.454A>G n.7897A>G c.7793A>G (p.Lys2598Arg) | gnomAD v4 COSMIC COSMIC |
13 | g.32362606A>T | CA387747126 | BRCA2 | c.7889A>T (p.Lys2630Ile) c.7520A>T (p.Lys2507Ile) c.356A>T (p.Lys119Ile) c.7897A>T (p.Asn2633Tyr) c.454A>T n.7897A>T c.7793A>T (p.Lys2598Ile) | dbSNP |
13 | g.32362607A= | CA2082831253 | BRCA2 | c.7890A= (p.Lys2630=) c.7521A= (p.Lys2507=) c.357A= (p.Lys119=) c.7898A= (p.Asn2633=) c.455A= n.7898A= c.7794A= (p.Lys2598=) | |
13 | g.32362607A>C | CA387747127 | BRCA2 | c.7890A>C (p.Lys2630Asn) c.7521A>C (p.Lys2507Asn) c.357A>C (p.Lys119Asn) c.7898A>C (p.Asn2633Thr) c.455A>C n.7898A>C c.7794A>C (p.Lys2598Asn) | ClinVar dbSNP |
13 | g.32362607A>G | CA483260928 | BRCA2 | c.7890A>G (p.Lys2630=) c.7521A>G (p.Lys2507=) c.357A>G (p.Lys119=) c.7898A>G (p.Asn2633Ser) c.455A>G n.7898A>G c.7794A>G (p.Lys2598=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362607A>T | CA387747128 | BRCA2 | c.7890A>T (p.Lys2630Asn) c.7521A>T (p.Lys2507Asn) c.357A>T (p.Lys119Asn) c.7898A>T (p.Asn2633Ile) c.455A>T n.7898A>T c.7794A>T (p.Lys2598Asn) | dbSNP |
13 | g.32362608_32362617dup | CA2825002143 | BRCA2 | c.7891_7900dup (p.Met2634ThrfsTer10) c.7522_7531dup (p.Met2511ThrfsTer10) c.358_367dup (p.Met123ThrfsTer10) c.7899_7908dup (p.Trp2637LeufsTer?) c.456_465dup n.7899_7908dup c.7795_7804dup (p.Met2602ThrfsTer10) | ClinVar |
13 | g.32362608C>A | CA10579759 | BRCA2 | c.7891C>A (p.Leu2631Met) c.7522C>A (p.Leu2508Met) c.358C>A (p.Leu120Met) c.7899C>A (p.Asn2633Lys) c.456C>A n.7899C>A c.7795C>A (p.Leu2599Met) | ClinVar dbSNP |
13 | g.32362608C= | CA2082831278 | BRCA2 | c.7891C= (p.Leu2631=) c.7522C= (p.Leu2508=) c.358C= (p.Leu120=) c.7899C= (p.Asn2633=) c.456C= n.7899C= c.7795C= (p.Leu2599=) | |
13 | g.32362608C>G | CA387747129 | BRCA2 | c.7891C>G (p.Leu2631Val) c.7522C>G (p.Leu2508Val) c.358C>G (p.Leu120Val) c.7899C>G (p.Asn2633Lys) c.456C>G n.7899C>G c.7795C>G (p.Leu2599Val) | dbSNP |
13 | g.32362608C>T | CA483260929 | BRCA2 | c.7891C>T (p.Leu2631=) c.7522C>T (p.Leu2508=) c.358C>T (p.Leu120=) c.7899C>T (p.Asn2633=) c.456C>T n.7899C>T c.7795C>T (p.Leu2599=) | ClinVar dbSNP |
13 | g.32362609T>A | CA387747132 | BRCA2 | c.7892T>A (p.Leu2631Gln) c.7523T>A (p.Leu2508Gln) c.359T>A (p.Leu120Gln) c.7900T>A (p.Trp2634Arg) c.457T>A n.7900T>A c.7796T>A (p.Leu2599Gln) | |
13 | g.32362609T>C | CA387747130 | BRCA2 | c.7892T>C (p.Leu2631Pro) c.7523T>C (p.Leu2508Pro) c.359T>C (p.Leu120Pro) c.7900T>C (p.Trp2634Arg) c.457T>C n.7900T>C c.7796T>C (p.Leu2599Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32362609T>G | CA387747131 | BRCA2 | c.7892T>G (p.Leu2631Arg) c.7523T>G (p.Leu2508Arg) c.359T>G (p.Leu120Arg) c.7900T>G (p.Trp2634Gly) c.457T>G n.7900T>G c.7796T>G (p.Leu2599Arg) | ClinVar dbSNP |
13 | g.32362609T= | CA2082831296 | BRCA2 | c.7892T= (p.Leu2631=) c.7523T= (p.Leu2508=) c.359T= (p.Leu120=) c.7900T= (p.Trp2634=) c.457T= n.7900T= c.7796T= (p.Leu2599=) | |
13 | g.32362610G>A | CA483260932 | BRCA2 | c.7893G>A (p.Leu2631=) c.7524G>A (p.Leu2508=) c.360G>A (p.Leu120=) c.7901G>A (p.Trp2634Ter) c.458G>A n.7901G>A c.7797G>A (p.Leu2599=) | dbSNP |
13 | g.32362610G>C | CA483260933 | BRCA2 | c.7893G>C (p.Leu2631=) c.7524G>C (p.Leu2508=) c.360G>C (p.Leu120=) c.7901G>C (p.Trp2634Ser) c.458G>C n.7901G>C c.7797G>C (p.Leu2599=) | dbSNP COSMIC COSMIC |
13 | g.32362610G>T | CA483260934 | BRCA2 | c.7893G>T (p.Leu2631=) c.7524G>T (p.Leu2508=) c.360G>T (p.Leu120=) c.7901G>T (p.Trp2634Leu) c.458G>T n.7901G>T c.7797G>T (p.Leu2599=) | dbSNP |
13 | g.32362611G>A | CA387747133 | BRCA2 | c.7894G>A (p.Ala2632Thr) c.7525G>A (p.Ala2509Thr) c.361G>A (p.Ala121Thr) c.7902G>A (p.Trp2634Ter) c.459G>A n.7902G>A c.7798G>A (p.Ala2600Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32362611G>C | CA387747134 | BRCA2 | c.7894G>C (p.Ala2632Pro) c.7525G>C (p.Ala2509Pro) c.361G>C (p.Ala121Pro) c.7902G>C (p.Trp2634Cys) c.459G>C n.7902G>C c.7798G>C (p.Ala2600Pro) | dbSNP |
13 | g.32362611G= | CA2082831308 | BRCA2 | c.7894G= (p.Ala2632=) c.7525G= (p.Ala2509=) c.361G= (p.Ala121=) c.7902G= (p.Trp2634=) c.459G= n.7902G= c.7798G= (p.Ala2600=) | |
13 | g.32362611G>T | CA387747135 | BRCA2 | c.7894G>T (p.Ala2632Ser) c.7525G>T (p.Ala2509Ser) c.361G>T (p.Ala121Ser) c.7902G>T (p.Trp2634Cys) c.459G>T n.7902G>T c.7798G>T (p.Ala2600Ser) | dbSNP COSMIC COSMIC |
13 | g.32362612del | CA2695217943 | BRCA2 | c.7895del (p.Ala2632GlufsTer16) c.7526del (p.Ala2509GlufsTer16) c.362del (p.Ala121GlufsTer16) c.7903del (p.Gln2635SerfsTer8) c.460del n.7903del c.7799del (p.Ala2600GlufsTer16) | |
13 | g.32362612C>A | CA387747136 | BRCA2 | c.7895C>A (p.Ala2632Glu) c.7526C>A (p.Ala2509Glu) c.362C>A (p.Ala121Glu) c.7903C>A (p.Gln2635Lys) c.460C>A n.7903C>A c.7799C>A (p.Ala2600Glu) | dbSNP |
13 | g.32362612C= | CA2082831317 | BRCA2 | c.7895C= (p.Ala2632=) c.7526C= (p.Ala2509=) c.362C= (p.Ala121=) c.7903C= (p.Gln2635=) c.460C= n.7903C= c.7799C= (p.Ala2600=) | |
13 | g.32362612C>G | CA247475168 | BRCA2 | c.7895C>G (p.Ala2632Gly) c.7526C>G (p.Ala2509Gly) c.362C>G (p.Ala121Gly) c.7903C>G (p.Gln2635Glu) c.460C>G n.7903C>G c.7799C>G (p.Ala2600Gly) | ClinVar dbSNP |
13 | g.32362612C>T | CA387747137 | BRCA2 | c.7895C>T (p.Ala2632Val) c.7526C>T (p.Ala2509Val) c.362C>T (p.Ala121Val) c.7903C>T (p.Gln2635Ter) c.460C>T n.7903C>T c.7799C>T (p.Ala2600Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32362612dup | CA2573149359 | BRCA2 | c.7895dup (p.Ala2633SerfsTer8) c.7526dup (p.Ala2510SerfsTer8) c.362dup (p.Ala122SerfsTer8) c.7903dup (p.Gln2635ProfsTer?) c.460dup n.7903dup c.7799dup (p.Ala2601SerfsTer8) | ClinVar dbSNP |
13 | g.32362613A>C | CA483260936 | BRCA2 | c.7896A>C (p.Ala2632=) c.7527A>C (p.Ala2509=) c.363A>C (p.Ala121=) c.7904A>C (p.Gln2635Pro) c.461A>C n.7904A>C c.7800A>C (p.Ala2600=) | |
13 | g.32362613A>G | CA483260937 | BRCA2 | c.7896A>G (p.Ala2632=) c.7527A>G (p.Ala2509=) c.363A>G (p.Ala121=) c.7904A>G (p.Gln2635Arg) c.461A>G n.7904A>G c.7800A>G (p.Ala2600=) | dbSNP |
13 | g.32362613A>T | CA483260938 | BRCA2 | c.7896A>T (p.Ala2632=) c.7527A>T (p.Ala2509=) c.363A>T (p.Ala121=) c.7904A>T (p.Gln2635Leu) c.461A>T n.7904A>T c.7800A>T (p.Ala2600=) | dbSNP gnomAD v4 |
13 | g.32362614G>A | CA387747138 | BRCA2 | c.7897G>A (p.Ala2633Thr) c.7528G>A (p.Ala2510Thr) c.364G>A (p.Ala122Thr) c.7905G>A (p.Gln2635=) c.462G>A n.7905G>A c.7801G>A (p.Ala2601Thr) | dbSNP |
13 | g.32362614G>C | CA387747139 | BRCA2 | c.7897G>C (p.Ala2633Pro) c.7528G>C (p.Ala2510Pro) c.364G>C (p.Ala122Pro) c.7905G>C (p.Gln2635His) c.462G>C n.7905G>C c.7801G>C (p.Ala2601Pro) | dbSNP |
13 | g.32362614G= | CA2082831329 | BRCA2 | c.7897G= (p.Ala2633=) c.7528G= (p.Ala2510=) c.364G= (p.Ala122=) c.7905G= (p.Gln2635=) c.462G= n.7905G= c.7801G= (p.Ala2601=) | |
13 | g.32362614G>T | CA025325 | BRCA2 | c.7897G>T (p.Ala2633Ser) c.7528G>T (p.Ala2510Ser) c.364G>T (p.Ala122Ser) c.7905G>T (p.Gln2635His) c.462G>T n.7905G>T c.7801G>T (p.Ala2601Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362615C>A | CA387747140 | BRCA2 | c.7898C>A (p.Ala2633Asp) c.7529C>A (p.Ala2510Asp) c.365C>A (p.Ala122Asp) c.7906C>A (p.Leu2636Ile) c.463C>A n.7906C>A c.7802C>A (p.Ala2601Asp) | dbSNP |
13 | g.32362615C= | CA2082831341 | BRCA2 | c.7898C= (p.Ala2633=) c.7529C= (p.Ala2510=) c.365C= (p.Ala122=) c.7906C= (p.Leu2636=) c.463C= n.7906C= c.7802C= (p.Ala2601=) | |
13 | g.32362615C>G | CA387747142 | BRCA2 | c.7898C>G (p.Ala2633Gly) c.7529C>G (p.Ala2510Gly) c.365C>G (p.Ala122Gly) c.7906C>G (p.Leu2636Val) c.463C>G n.7906C>G c.7802C>G (p.Ala2601Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32362615C>T | CA387747141 | BRCA2 | c.7898C>T (p.Ala2633Val) c.7529C>T (p.Ala2510Val) c.365C>T (p.Ala122Val) c.7906C>T (p.Leu2636=) c.463C>T n.7906C>T c.7802C>T (p.Ala2601Val) | ClinVar dbSNP |
13 | g.32362618_32362635del | CA2573149360 | BRCA2 | c.7901_7918del (p.Met2634_Pro2639del) c.7532_7549del (p.Met2511_Pro2516del) c.368_385del (p.Met123_Pro128del) c.7909_7926del (p.Trp2637_Leu2642del) c.466_483del n.7909_7926del c.7805_7822del (p.Met2602_Pro2607del) | ClinVar dbSNP |
13 | g.32362616T>A | CA483260940 | BRCA2 | c.7899T>A (p.Ala2633=) c.7530T>A (p.Ala2510=) c.366T>A (p.Ala122=) c.7907T>A (p.Leu2636Gln) c.464T>A n.7907T>A c.7803T>A (p.Ala2601=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362616T>C | CA483260941 | BRCA2 | c.7899T>C (p.Ala2633=) c.7530T>C (p.Ala2510=) c.366T>C (p.Ala122=) c.7907T>C (p.Leu2636Pro) c.464T>C n.7907T>C c.7803T>C (p.Ala2601=) | dbSNP |
13 | g.32362616T>G | CA483260939 | BRCA2 | c.7899T>G (p.Ala2633=) c.7530T>G (p.Ala2510=) c.366T>G (p.Ala122=) c.7907T>G (p.Leu2636Arg) c.464T>G n.7907T>G c.7803T>G (p.Ala2601=) | ClinVar dbSNP |
13 | g.32362616T= | CA2082831357 | BRCA2 | c.7899T= (p.Ala2633=) c.7530T= (p.Ala2510=) c.366T= (p.Ala122=) c.7907T= (p.Leu2636=) c.464T= n.7907T= c.7803T= (p.Ala2601=) | |
13 | g.32362616_32362617delinsTA | CA2082831360 | BRCA2 | c.7899_7900delinsTA (p.Ala2633=) c.7530_7531delinsTA (p.Ala2510=) c.366_367delinsTA (p.Ala122=) c.7907_7908delinsTA (p.Leu2636=) c.464_465delinsTA n.7907_7908delinsTA c.7803_7804delinsTA (p.Ala2601=) | |
13 | g.32362617del | CA658761192 | BRCA2 | c.7900del (p.Met2634TrpfsTer14) c.7531del (p.Met2511TrpfsTer14) c.367del (p.Met123TrpfsTer14) c.7908del (p.Trp2637GlyfsTer6) c.465del n.7908del c.7804del (p.Met2602TrpfsTer14) | ClinVar dbSNP |
13 | g.32362617A= | CA2082831368 | BRCA2 | c.7900A= (p.Met2634=) c.7531A= (p.Met2511=) c.367A= (p.Met123=) c.7908A= (p.Leu2636=) c.465A= n.7908A= c.7804A= (p.Met2602=) | |
13 | g.32362617A>C | CA387747143 | BRCA2 | c.7900A>C (p.Met2634Leu) c.7531A>C (p.Met2511Leu) c.367A>C (p.Met123Leu) c.7908A>C (p.Leu2636=) c.465A>C n.7908A>C c.7804A>C (p.Met2602Leu) | |
13 | g.32362617A>G | CA387747144 | BRCA2 | c.7900A>G (p.Met2634Val) c.7531A>G (p.Met2511Val) c.367A>G (p.Met123Val) c.7908A>G (p.Leu2636=) c.465A>G n.7908A>G c.7804A>G (p.Met2602Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362617A>T | CA387747145 | BRCA2 | c.7900A>T (p.Met2634Leu) c.7531A>T (p.Met2511Leu) c.367A>T (p.Met123Leu) c.7908A>T (p.Leu2636=) c.465A>T n.7908A>T c.7804A>T (p.Met2602Leu) | dbSNP |
13 | g.32362618T>A | CA387747146 | BRCA2 | c.7901T>A (p.Met2634Lys) c.7532T>A (p.Met2511Lys) c.368T>A (p.Met123Lys) c.7909T>A (p.Trp2637Arg) c.466T>A n.7909T>A c.7805T>A (p.Met2602Lys) | ClinVar dbSNP gnomAD v2 |
13 | g.32362618T>C | CA025326 | BRCA2 | c.7901T>C (p.Met2634Thr) c.7532T>C (p.Met2511Thr) c.368T>C (p.Met123Thr) c.7909T>C (p.Trp2637Arg) c.466T>C n.7909T>C c.7805T>C (p.Met2602Thr) | ClinVar dbSNP |
13 | g.32362618T>G | CA387747147 | BRCA2 | c.7901T>G (p.Met2634Arg) c.7532T>G (p.Met2511Arg) c.368T>G (p.Met123Arg) c.7909T>G (p.Trp2637Gly) c.466T>G n.7909T>G c.7805T>G (p.Met2602Arg) | |
13 | g.32362618T= | CA2082831390 | BRCA2 | c.7901T= (p.Met2634=) c.7532T= (p.Met2511=) c.368T= (p.Met123=) c.7909T= (p.Trp2637=) c.466T= n.7909T= c.7805T= (p.Met2602=) | |
13 | g.32362618_32362619del | CA1139770834 | BRCA2 | c.7901_7902del (p.Met2634ArgfsTer6) c.7532_7533del (p.Met2511ArgfsTer6) c.368_369del (p.Met123ArgfsTer6) c.7909_7910del (p.Trp2637GlufsTer?) c.466_467del n.7909_7910del c.7805_7806del (p.Met2602ArgfsTer6) | |
13 | g.32362619G>A | CA387747148 | BRCA2 | c.7902G>A (p.Met2634Ile) c.7533G>A (p.Met2511Ile) c.369G>A (p.Met123Ile) c.7910G>A (p.Trp2637Ter) c.467G>A n.7910G>A c.7806G>A (p.Met2602Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362619G>C | CA387747149 | BRCA2 | c.7902G>C (p.Met2634Ile) c.7533G>C (p.Met2511Ile) c.369G>C (p.Met123Ile) c.7910G>C (p.Trp2637Ser) c.467G>C n.7910G>C c.7806G>C (p.Met2602Ile) | dbSNP |
13 | g.32362619G= | CA2082831402 | BRCA2 | c.7902G= (p.Met2634=) c.7533G= (p.Met2511=) c.369G= (p.Met123=) c.7910G= (p.Trp2637=) c.467G= n.7910G= c.7806G= (p.Met2602=) | |
13 | g.32362619G>T | CA387747150 | BRCA2 | c.7902G>T (p.Met2634Ile) c.7533G>T (p.Met2511Ile) c.369G>T (p.Met123Ile) c.7910G>T (p.Trp2637Leu) c.467G>T n.7910G>T c.7806G>T (p.Met2602Ile) | |
13 | g.32362619_32362620delinsGG | CA2082831407 | BRCA2 | c.7902_7903delinsGG (p.Met2634=) c.7533_7534delinsGG (p.Met2511=) c.369_370delinsGG (p.Met123=) c.7910_7911delinsGG (p.Trp2637=) c.467_468delinsGG n.7910_7911delinsGG c.7806_7807delinsGG (p.Met2602=) | |
13 | g.32362619_32362620delinsTT | CA915946882 | BRCA2 | c.7902_7903delinsTT (p.Met2634IlefsTer2) c.7533_7534delinsTT (p.Met2511IlefsTer2) c.369_370delinsTT (p.Met123IlefsTer2) c.7910_7911delinsTT (p.Trp2637Phe) c.467_468delinsTT n.7910_7911delinsTT c.7806_7807delinsTT (p.Met2602IlefsTer2) | ClinVar dbSNP |
13 | g.32362620G>A | CA387747151 | BRCA2 | c.7903G>A (p.Glu2635Lys) c.7534G>A (p.Glu2512Lys) c.370G>A (p.Glu124Lys) c.7911G>A (p.Trp2637Ter) c.468G>A n.7911G>A c.7807G>A (p.Glu2603Lys) | ClinVar dbSNP |
13 | g.32362620G>C | CA387747152 | BRCA2 | c.7903G>C (p.Glu2635Gln) c.7534G>C (p.Glu2512Gln) c.370G>C (p.Glu124Gln) c.7911G>C (p.Trp2637Cys) c.468G>C n.7911G>C c.7807G>C (p.Glu2603Gln) | dbSNP gnomAD v4 |
13 | g.32362620G>T | CA387747153 | BRCA2 | c.7903G>T (p.Glu2635Ter) c.7534G>T (p.Glu2512Ter) c.370G>T (p.Glu124Ter) c.7911G>T (p.Trp2637Cys) c.468G>T n.7911G>T c.7807G>T (p.Glu2603Ter) | ClinVar dbSNP |
13 | g.32362621A>C | CA387747156 | BRCA2 | c.7904A>C (p.Glu2635Ala) c.7535A>C (p.Glu2512Ala) c.371A>C (p.Glu124Ala) c.7912A>C (p.Asn2638His) c.469A>C n.7912A>C c.7808A>C (p.Glu2603Ala) | |
13 | g.32362621A>G | CA387747154 | BRCA2 | c.7904A>G (p.Glu2635Gly) c.7535A>G (p.Glu2512Gly) c.371A>G (p.Glu124Gly) c.7912A>G (p.Asn2638Asp) c.469A>G n.7912A>G c.7808A>G (p.Glu2603Gly) | COSMIC COSMIC |
13 | g.32362621A>T | CA387747155 | BRCA2 | c.7904A>T (p.Glu2635Val) c.7535A>T (p.Glu2512Val) c.371A>T (p.Glu124Val) c.7912A>T (p.Asn2638Tyr) c.469A>T n.7912A>T c.7808A>T (p.Glu2603Val) | dbSNP |
13 | g.32362622dup | CA2695217944 | BRCA2 | c.7905dup (p.Cys2636MetfsTer5) c.7536dup (p.Cys2513MetfsTer5) c.372dup (p.Cys125MetfsTer5) c.7913dup (p.Asn2638LysfsTer?) c.470dup n.7913dup c.7809dup (p.Cys2604MetfsTer5) | |
13 | g.32362622A= | CA2082831414 | BRCA2 | c.7905A= (p.Glu2635=) c.7536A= (p.Glu2512=) c.372A= (p.Glu124=) c.7913A= (p.Asn2638=) c.470A= n.7913A= c.7809A= (p.Glu2603=) | |
13 | g.32362622A>C | CA387747157 | BRCA2 | c.7905A>C (p.Glu2635Asp) c.7536A>C (p.Glu2512Asp) c.372A>C (p.Glu124Asp) c.7913A>C (p.Asn2638Thr) c.470A>C n.7913A>C c.7809A>C (p.Glu2603Asp) | |
13 | g.32362622A>G | CA483260945 | BRCA2 | c.7905A>G (p.Glu2635=) c.7536A>G (p.Glu2512=) c.372A>G (p.Glu124=) c.7913A>G (p.Asn2638Ser) c.470A>G n.7913A>G c.7809A>G (p.Glu2603=) | ClinVar dbSNP |
13 | g.32362622A>T | CA10586081 | BRCA2 | c.7905A>T (p.Glu2635Asp) c.7536A>T (p.Glu2512Asp) c.372A>T (p.Glu124Asp) c.7913A>T (p.Asn2638Ile) c.470A>T n.7913A>T c.7809A>T (p.Glu2603Asp) | ClinVar dbSNP |
13 | g.32362623T>A | CA387747158 | BRCA2 | c.7906T>A (p.Cys2636Ser) c.7537T>A (p.Cys2513Ser) c.373T>A (p.Cys125Ser) c.7914T>A (p.Asn2638Lys) c.471T>A n.7914T>A c.7810T>A (p.Cys2604Ser) | dbSNP |
13 | g.32362623T>C | CA387747159 | BRCA2 | c.7906T>C (p.Cys2636Arg) c.7537T>C (p.Cys2513Arg) c.373T>C (p.Cys125Arg) c.7914T>C (p.Asn2638=) c.471T>C n.7914T>C c.7810T>C (p.Cys2604Arg) | ClinVar dbSNP |
13 | g.32362623T>G | CA387747160 | BRCA2 | c.7906T>G (p.Cys2636Gly) c.7537T>G (p.Cys2513Gly) c.373T>G (p.Cys125Gly) c.7914T>G (p.Asn2638Lys) c.471T>G n.7914T>G c.7810T>G (p.Cys2604Gly) | dbSNP |
13 | g.32362623T= | CA2082831421 | BRCA2 | c.7906T= (p.Cys2636=) c.7537T= (p.Cys2513=) c.373T= (p.Cys125=) c.7914T= (p.Asn2638=) c.471T= n.7914T= c.7810T= (p.Cys2604=) | |
13 | g.32362624del | CA2580087412 | BRCA2 | c.7907del (p.Cys2636LeufsTer12) c.7538del (p.Cys2513LeufsTer12) c.374del (p.Cys125LeufsTer12) c.7915del (p.Val2639CysfsTer4) c.472del n.7915del c.7811del (p.Cys2604LeufsTer12) | ClinVar |
13 | g.32362624G>A | CA387747161 | BRCA2 | c.7907G>A (p.Cys2636Tyr) c.7538G>A (p.Cys2513Tyr) c.374G>A (p.Cys125Tyr) c.7915G>A (p.Val2639Met) c.472G>A n.7915G>A c.7811G>A (p.Cys2604Tyr) | ClinVar dbSNP gnomAD v4 |
13 | g.32362624G>C | CA387747162 | BRCA2 | c.7907G>C (p.Cys2636Ser) c.7538G>C (p.Cys2513Ser) c.374G>C (p.Cys125Ser) c.7915G>C (p.Val2639Leu) c.472G>C n.7915G>C c.7811G>C (p.Cys2604Ser) | dbSNP |
13 | g.32362624G>T | CA387747163 | BRCA2 | c.7907G>T (p.Cys2636Phe) c.7538G>T (p.Cys2513Phe) c.374G>T (p.Cys125Phe) c.7915G>T (p.Val2639Leu) c.472G>T n.7915G>T c.7811G>T (p.Cys2604Phe) | dbSNP |
13 | g.32362625T>A | CA025327 | BRCA2 | c.7908T>A (p.Cys2636Ter) c.7539T>A (p.Cys2513Ter) c.375T>A (p.Cys125Ter) c.7916T>A (p.Val2639Glu) c.473T>A n.7916T>A c.7812T>A (p.Cys2604Ter) | ClinVar dbSNP |
13 | g.32362625T>C | CA483260950 | BRCA2 | c.7908T>C (p.Cys2636=) c.7539T>C (p.Cys2513=) c.375T>C (p.Cys125=) c.7916T>C (p.Val2639Ala) c.473T>C n.7916T>C c.7812T>C (p.Cys2604=) | ClinVar |
13 | g.32362625T>G | CA387747164 | BRCA2 | c.7908T>G (p.Cys2636Trp) c.7539T>G (p.Cys2513Trp) c.375T>G (p.Cys125Trp) c.7916T>G (p.Val2639Gly) c.473T>G n.7916T>G c.7812T>G (p.Cys2604Trp) | dbSNP |
13 | g.32362625T= | CA2082831444 | BRCA2 | c.7908T= (p.Cys2636=) c.7539T= (p.Cys2513=) c.375T= (p.Cys125=) c.7916T= (p.Val2639=) c.473T= n.7916T= c.7812T= (p.Cys2604=) | |
13 | g.32362626G>A | CA387747167 | BRCA2 | c.7909G>A (p.Ala2637Thr) c.7540G>A (p.Ala2514Thr) c.376G>A (p.Ala126Thr) c.7917G>A (p.Val2639=) c.474G>A n.7917G>A c.7813G>A (p.Ala2605Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32362626G>C | CA387747166 | BRCA2 | c.7909G>C (p.Ala2637Pro) c.7540G>C (p.Ala2514Pro) c.376G>C (p.Ala126Pro) c.7917G>C (p.Val2639=) c.474G>C n.7917G>C c.7813G>C (p.Ala2605Pro) | ClinVar dbSNP |
13 | g.32362626G= | CA2082831459 | BRCA2 | c.7909G= (p.Ala2637=) c.7540G= (p.Ala2514=) c.376G= (p.Ala126=) c.7917G= (p.Val2639=) c.474G= n.7917G= c.7813G= (p.Ala2605=) | |
13 | g.32362626G>T | CA387747165 | BRCA2 | c.7909G>T (p.Ala2637Ser) c.7540G>T (p.Ala2514Ser) c.376G>T (p.Ala126Ser) c.7917G>T (p.Val2639=) c.474G>T n.7917G>T c.7813G>T (p.Ala2605Ser) | |
13 | g.32362626_32362631delinsGCCTTT | CA2082831455 | BRCA2 | c.7909_7914delinsGCCTTT (p.Ala2637=) c.7540_7545delinsGCCTTT (p.Ala2514=) c.376_381delinsGCCTTT (p.Ala126=) c.7917_7922delinsGCCTTT (p.Val2639=) c.474_479delinsGCCTTT n.7917_7922delinsGCCTTT c.7813_7818delinsGCCTTT (p.Ala2605=) | |
13 | g.32362627C>A | CA387747168 | BRCA2 | c.7910C>A (p.Ala2637Asp) c.7541C>A (p.Ala2514Asp) c.377C>A (p.Ala126Asp) c.7918C>A (p.Pro2640Thr) c.475C>A n.7918C>A c.7814C>A (p.Ala2605Asp) | dbSNP |
13 | g.32362627C= | CA2082831471 | BRCA2 | c.7910C= (p.Ala2637=) c.7541C= (p.Ala2514=) c.377C= (p.Ala126=) c.7918C= (p.Pro2640=) c.475C= n.7918C= c.7814C= (p.Ala2605=) | |
13 | g.32362627C>G | CA387747169 | BRCA2 | c.7910C>G (p.Ala2637Gly) c.7541C>G (p.Ala2514Gly) c.377C>G (p.Ala126Gly) c.7918C>G (p.Pro2640Ala) c.475C>G n.7918C>G c.7814C>G (p.Ala2605Gly) | dbSNP |
13 | g.32362627C>T | CA025329 | BRCA2 | c.7910C>T (p.Ala2637Val) c.7541C>T (p.Ala2514Val) c.377C>T (p.Ala126Val) c.7918C>T (p.Pro2640Ser) c.475C>T n.7918C>T c.7814C>T (p.Ala2605Val) | ClinVar dbSNP |
13 | g.32362630_32362634del | CA025328 | BRCA2 | c.7913_7917del (p.Phe2638Ter) c.7544_7548del (p.Phe2515Ter) c.380_384del (p.Phe127Ter) c.7921_7925del (p.Phe2641LysfsTer?) c.478_482del n.7921_7925del c.7817_7821del (p.Phe2606Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32362627_32362628insGAAA | CA658823757 | BRCA2 | c.7910_7911insGAAA (p.Phe2638LysfsTer4) c.7541_7542insGAAA (p.Phe2515LysfsTer4) c.377_378insGAAA (p.Phe127LysfsTer4) c.7918_7919insGAAA (p.Pro2640ArgfsTer?) c.475_476insGAAA n.7918_7919insGAAA c.7814_7815insGAAA (p.Phe2606LysfsTer4) | ClinVar dbSNP |
13 | g.32362628C>A | CA483260956 | BRCA2 | c.7911C>A (p.Ala2637=) c.7542C>A (p.Ala2514=) c.378C>A (p.Ala126=) c.7919C>A (p.Pro2640His) c.476C>A n.7919C>A c.7815C>A (p.Ala2605=) | |
13 | g.32362628C= | CA2082831481 | BRCA2 | c.7911C= (p.Ala2637=) c.7542C= (p.Ala2514=) c.378C= (p.Ala126=) c.7919C= (p.Pro2640=) c.476C= n.7919C= c.7815C= (p.Ala2605=) | |
13 | g.32362628C>G | CA483260957 | BRCA2 | c.7911C>G (p.Ala2637=) c.7542C>G (p.Ala2514=) c.378C>G (p.Ala126=) c.7919C>G (p.Pro2640Arg) c.476C>G n.7919C>G c.7815C>G (p.Ala2605=) | |
13 | g.32362628C>T | CA483260958 | BRCA2 | c.7911C>T (p.Ala2637=) c.7542C>T (p.Ala2514=) c.378C>T (p.Ala126=) c.7919C>T (p.Pro2640Leu) c.476C>T n.7919C>T c.7815C>T (p.Ala2605=) | ClinVar |
13 | g.32362628_32362629delinsCT | CA2082831478 | BRCA2 | c.7911_7912delinsCT (p.Ala2637=) c.7542_7543delinsCT (p.Ala2514=) c.378_379delinsCT (p.Ala126=) c.7919_7920delinsCT (p.Pro2640=) c.476_477delinsCT n.7919_7920delinsCT c.7815_7816delinsCT (p.Ala2605=) | |
13 | g.32362628_32362629insGAAA | CA10589457 | BRCA2 | c.7911_7912insGAAA (p.Phe2638GlufsTer4) c.7542_7543insGAAA (p.Phe2515GlufsTer4) c.378_379insGAAA (p.Phe127GlufsTer4) c.7919_7920insGAAA (p.Phe2641LysfsTer?) c.476_477insGAAA n.7919_7920insGAAA c.7815_7816insGAAA (p.Phe2606GlufsTer4) | ClinVar dbSNP |
13 | g.32362629T>A | CA387747171 | BRCA2 | c.7912T>A (p.Phe2638Ile) c.7543T>A (p.Phe2515Ile) c.379T>A (p.Phe127Ile) c.7920T>A (p.Pro2640=) c.477T>A n.7920T>A c.7816T>A (p.Phe2606Ile) | dbSNP |
13 | g.32362629T>C | CA10579760 | BRCA2 | c.7912T>C (p.Phe2638Leu) c.7543T>C (p.Phe2515Leu) c.379T>C (p.Phe127Leu) c.7920T>C (p.Pro2640=) c.477T>C n.7920T>C c.7816T>C (p.Phe2606Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32362629T>G | CA387747170 | BRCA2 | c.7912T>G (p.Phe2638Val) c.7543T>G (p.Phe2515Val) c.379T>G (p.Phe127Val) c.7920T>G (p.Pro2640=) c.477T>G n.7920T>G c.7816T>G (p.Phe2606Val) | ClinVar dbSNP |
13 | g.32362629T= | CA2082831499 | BRCA2 | c.7912T= (p.Phe2638=) c.7543T= (p.Phe2515=) c.379T= (p.Phe127=) c.7920T= (p.Pro2640=) c.477T= n.7920T= c.7816T= (p.Phe2606=) | |
13 | g.32362631del | CA10585935 | BRCA2 | c.7914del (p.Pro2639LeufsTer9) c.7545del (p.Pro2516LeufsTer9) c.381del (p.Pro128LeufsTer9) c.7922del (p.Phe2641SerfsTer2) c.479del n.7922del c.7818del (p.Pro2607LeufsTer9) | ClinVar dbSNP |
13 | g.32362630T>A | CA387747172 | BRCA2 | c.7913T>A (p.Phe2638Tyr) c.7544T>A (p.Phe2515Tyr) c.380T>A (p.Phe127Tyr) c.7921T>A (p.Phe2641Ile) c.478T>A n.7921T>A c.7817T>A (p.Phe2606Tyr) | dbSNP |
13 | g.32362630T>C | CA387747173 | BRCA2 | c.7913T>C (p.Phe2638Ser) c.7544T>C (p.Phe2515Ser) c.380T>C (p.Phe127Ser) c.7921T>C (p.Phe2641Leu) c.478T>C n.7921T>C c.7817T>C (p.Phe2606Ser) | |
13 | g.32362630T>G | CA387747174 | BRCA2 | c.7913T>G (p.Phe2638Cys) c.7544T>G (p.Phe2515Cys) c.380T>G (p.Phe127Cys) c.7921T>G (p.Phe2641Val) c.478T>G n.7921T>G c.7817T>G (p.Phe2606Cys) | |
13 | g.32362631T>A | CA387747175 | BRCA2 | c.7914T>A (p.Phe2638Leu) c.7545T>A (p.Phe2515Leu) c.381T>A (p.Phe127Leu) c.7922T>A (p.Phe2641Tyr) c.479T>A n.7922T>A c.7818T>A (p.Phe2606Leu) | |
13 | g.32362631T>C | CA483260961 | BRCA2 | c.7914T>C (p.Phe2638=) c.7545T>C (p.Phe2515=) c.381T>C (p.Phe127=) c.7922T>C (p.Phe2641Ser) c.479T>C n.7922T>C c.7818T>C (p.Phe2606=) | |
13 | g.32362631T>G | CA025332 | BRCA2 | c.7914T>G (p.Phe2638Leu) c.7545T>G (p.Phe2515Leu) c.381T>G (p.Phe127Leu) c.7922T>G (p.Phe2641Cys) c.479T>G n.7922T>G c.7818T>G (p.Phe2606Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32362631T= | CA2082831520 | BRCA2 | c.7914T= (p.Phe2638=) c.7545T= (p.Phe2515=) c.381T= (p.Phe127=) c.7922T= (p.Phe2641=) c.479T= n.7922T= c.7818T= (p.Phe2606=) | |
13 | g.32362632C>A | CA025333 | BRCA2 | c.7915C>A (p.Pro2639Thr) c.7546C>A (p.Pro2516Thr) c.382C>A (p.Pro128Thr) c.7923C>A (p.Phe2641Leu) c.480C>A n.7923C>A c.7819C>A (p.Pro2607Thr) | ClinVar dbSNP |
13 | g.32362632C= | CA2082831569 | BRCA2 | c.7915C= (p.Pro2639=) c.7546C= (p.Pro2516=) c.382C= (p.Pro128=) c.7923C= (p.Phe2641=) c.480C= n.7923C= c.7819C= (p.Pro2607=) | |
13 | g.32362632C>G | CA025334 | BRCA2 | c.7915C>G (p.Pro2639Ala) c.7546C>G (p.Pro2516Ala) c.382C>G (p.Pro128Ala) c.7923C>G (p.Phe2641Leu) c.480C>G n.7923C>G c.7819C>G (p.Pro2607Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32362632C>T | CA387747176 | BRCA2 | c.7915C>T (p.Pro2639Ser) c.7546C>T (p.Pro2516Ser) c.382C>T (p.Pro128Ser) c.7923C>T (p.Phe2641=) c.480C>T n.7923C>T c.7819C>T (p.Pro2607Ser) | dbSNP |
13 | g.32362632_32362633delinsCC | CA2082831577 | BRCA2 | c.7915_7916delinsCC (p.Pro2639=) c.7546_7547delinsCC (p.Pro2516=) c.382_383delinsCC (p.Pro128=) c.7923_7924delinsCC (p.Phe2641=) c.480_481delinsCC n.7923_7924delinsCC c.7819_7820delinsCC (p.Pro2607=) | |
13 | g.32362632_32362633delinsTT | CA1139663133 | BRCA2 | c.7915_7916delinsTT (p.Pro2639Phe) c.7546_7547delinsTT (p.Pro2516Phe) c.382_383delinsTT (p.Pro128Phe) c.7923_7924delinsTT (p.Phe2641=) c.480_481delinsTT n.7923_7924delinsTT c.7819_7820delinsTT (p.Pro2607Phe) | ClinVar dbSNP |
13 | g.32362633C>A | CA387747177 | BRCA2 | c.7916C>A (p.Pro2639His) c.7547C>A (p.Pro2516His) c.383C>A (p.Pro128His) c.7924C>A (p.Leu2642Ile) c.481C>A n.7924C>A c.7820C>A (p.Pro2607His) | dbSNP |
13 | g.32362633C= | CA2082831597 | BRCA2 | c.7916C= (p.Pro2639=) c.7547C= (p.Pro2516=) c.383C= (p.Pro128=) c.7924C= (p.Leu2642=) c.481C= n.7924C= c.7820C= (p.Pro2607=) | |
13 | g.32362633C>G | CA387747178 | BRCA2 | c.7916C>G (p.Pro2639Arg) c.7547C>G (p.Pro2516Arg) c.383C>G (p.Pro128Arg) c.7924C>G (p.Leu2642Val) c.481C>G n.7924C>G c.7820C>G (p.Pro2607Arg) | ClinVar dbSNP |
13 | g.32362633C>T | CA338873 | BRCA2 | c.7916C>T (p.Pro2639Leu) c.7547C>T (p.Pro2516Leu) c.383C>T (p.Pro128Leu) c.7924C>T (p.Leu2642=) c.481C>T n.7924C>T c.7820C>T (p.Pro2607Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32362634T>A | CA483260963 | BRCA2 | c.7917T>A (p.Pro2639=) c.7548T>A (p.Pro2516=) c.384T>A (p.Pro128=) c.7925T>A (p.Leu2642Gln) c.482T>A n.7925T>A c.7821T>A (p.Pro2607=) | dbSNP |
13 | g.32362634T>C | CA483260964 | BRCA2 | c.7917T>C (p.Pro2639=) c.7548T>C (p.Pro2516=) c.384T>C (p.Pro128=) c.7925T>C (p.Leu2642Pro) c.482T>C n.7925T>C c.7821T>C (p.Pro2607=) | dbSNP |
13 | g.32362634T>G | CA483260966 | BRCA2 | c.7917T>G (p.Pro2639=) c.7548T>G (p.Pro2516=) c.384T>G (p.Pro128=) c.7925T>G (p.Leu2642Arg) c.482T>G n.7925T>G c.7821T>G (p.Pro2607=) | |
13 | g.32362635A= | CA2082831616 | BRCA2 | c.7918A= (p.Lys2640=) c.7549A= (p.Lys2517=) c.385A= (p.Lys129=) c.7926A= (p.Leu2642=) c.483A= n.7926A= c.7822A= (p.Lys2608=) | |
13 | g.32362635A>C | CA387747179 | BRCA2 | c.7918A>C (p.Lys2640Gln) c.7549A>C (p.Lys2517Gln) c.385A>C (p.Lys129Gln) c.7926A>C (p.Leu2642=) c.483A>C n.7926A>C c.7822A>C (p.Lys2608Gln) | |
13 | g.32362635A>G | CA387747180 | BRCA2 | c.7918A>G (p.Lys2640Glu) c.7549A>G (p.Lys2517Glu) c.385A>G (p.Lys129Glu) c.7926A>G (p.Leu2642=) c.483A>G n.7926A>G c.7822A>G (p.Lys2608Glu) | ClinVar dbSNP |
13 | g.32362635A>T | CA387747181 | BRCA2 | c.7918A>T (p.Lys2640Ter) c.7549A>T (p.Lys2517Ter) c.385A>T (p.Lys129Ter) c.7926A>T (p.Leu2642=) c.483A>T n.7926A>T c.7822A>T (p.Lys2608Ter) | dbSNP |
13 | g.32362635_32362645delinsAAGGAATTTGC | CA2082831605 | BRCA2 | c.7918_7928delinsAAGGAATTTGC (p.Lys2640=) c.7549_7559delinsAAGGAATTTGC (p.Lys2517=) c.385_395delinsAAGGAATTTGC (p.Lys129=) c.7926_7936delinsAAGGAATTTGC (p.Leu2642=) c.483_493delinsAAGGAATTTGC n.7926_7936delinsAAGGAATTTGC c.7822_7832delinsAAGGAATTTGC (p.Lys2608=) | |
13 | g.32362636A= | CA2082831644 | BRCA2 | c.7919A= (p.Lys2640=) c.7550A= (p.Lys2517=) c.386A= (p.Lys129=) c.7927A= (p.Arg2643=) c.484A= n.7927A= c.7823A= (p.Lys2608=) | |
13 | g.32362636A>C | CA025335 | BRCA2 | c.7919A>C (p.Lys2640Thr) c.7550A>C (p.Lys2517Thr) c.386A>C (p.Lys129Thr) c.7927A>C (p.Arg2643=) c.484A>C n.7927A>C c.7823A>C (p.Lys2608Thr) | ClinVar dbSNP |
13 | g.32362636A>G | CA387747182 | BRCA2 | c.7919A>G (p.Lys2640Arg) c.7550A>G (p.Lys2517Arg) c.386A>G (p.Lys129Arg) c.7927A>G (p.Arg2643Gly) c.484A>G n.7927A>G c.7823A>G (p.Lys2608Arg) | ClinVar dbSNP |
13 | g.32362636A>T | CA387747183 | BRCA2 | c.7919A>T (p.Lys2640Met) c.7550A>T (p.Lys2517Met) c.386A>T (p.Lys129Met) c.7927A>T (p.Arg2643Trp) c.484A>T n.7927A>T c.7823A>T (p.Lys2608Met) | ClinVar dbSNP |
13 | g.32362636_32362645del | CA10585936 | BRCA2 | c.7919_7928del (p.Lys2640IlefsTer5) c.7550_7559del (p.Lys2517IlefsTer5) c.386_395del (p.Lys129IlefsTer5) c.7927_7936del (p.Arg2643Ter) c.484_493del n.7927_7936del c.7823_7832del (p.Lys2608IlefsTer5) | ClinVar dbSNP |
13 | g.32362637G>A | CA483260973 | BRCA2 | c.7920G>A (p.Lys2640=) c.7551G>A (p.Lys2517=) c.387G>A (p.Lys129=) c.7928G>A (p.Arg2643Lys) c.485G>A n.7928G>A c.7824G>A (p.Lys2608=) | ClinVar dbSNP |
13 | g.32362637G>C | CA387747184 | BRCA2 | c.7920G>C (p.Lys2640Asn) c.7551G>C (p.Lys2517Asn) c.387G>C (p.Lys129Asn) c.7928G>C (p.Arg2643Thr) c.485G>C n.7928G>C c.7824G>C (p.Lys2608Asn) | ClinVar dbSNP |
13 | g.32362637G>T | CA387747185 | BRCA2 | c.7920G>T (p.Lys2640Asn) c.7551G>T (p.Lys2517Asn) c.387G>T (p.Lys129Asn) c.7928G>T (p.Arg2643Met) c.485G>T n.7928G>T c.7824G>T (p.Lys2608Asn) | |
13 | g.32362637_32362643delinsGGAATTT | CA2082831659 | BRCA2 | c.7920_7926delinsGGAATTT (p.Lys2640=) c.7551_7557delinsGGAATTT (p.Lys2517=) c.387_393delinsGGAATTT (p.Lys129=) c.7928_7934delinsGGAATTT (p.Arg2643=) c.485_491delinsGGAATTT n.7928_7934delinsGGAATTT c.7824_7830delinsGGAATTT (p.Lys2608=) |