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.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.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.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.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=) | |
13 | g.32362638G>A | CA387747186 | BRCA2 | c.7921G>A (p.Glu2641Lys) c.7552G>A (p.Glu2518Lys) c.388G>A (p.Glu130Lys) c.7929G>A (p.Arg2643=) c.486G>A n.7929G>A c.7825G>A (p.Glu2609Lys) | dbSNP |
13 | g.32362638G>C | CA387747187 | BRCA2 | c.7921G>C (p.Glu2641Gln) c.7552G>C (p.Glu2518Gln) c.388G>C (p.Glu130Gln) c.7929G>C (p.Arg2643Ser) c.486G>C n.7929G>C c.7825G>C (p.Glu2609Gln) | dbSNP |
13 | g.32362638G= | CA2082831689 | BRCA2 | c.7921G= (p.Glu2641=) c.7552G= (p.Glu2518=) c.388G= (p.Glu130=) c.7929G= (p.Arg2643=) c.486G= n.7929G= c.7825G= (p.Glu2609=) | |
13 | g.32362638G>T | CA10586582 | BRCA2 | c.7921G>T (p.Glu2641Ter) c.7552G>T (p.Glu2518Ter) c.388G>T (p.Glu130Ter) c.7929G>T (p.Arg2643Ser) c.486G>T n.7929G>T c.7825G>T (p.Glu2609Ter) | ClinVar dbSNP |
13 | g.32362638_32362643delinsAG | CA025336 | BRCA2 | c.7921_7926delinsAG (p.Glu2641ArgfsTer6) c.7552_7557delinsAG (p.Glu2518ArgfsTer6) c.388_393delinsAG (p.Glu130ArgfsTer6) c.7929_7934delinsAG (p.Asn2644GlyfsTer2) c.486_491delinsAG n.7929_7934delinsAG c.7825_7830delinsAG (p.Glu2609ArgfsTer6) | ClinVar dbSNP |
13 | g.32362639A>C | CA387747188 | BRCA2 | c.7922A>C (p.Glu2641Ala) c.7553A>C (p.Glu2518Ala) c.389A>C (p.Glu130Ala) c.7930A>C (p.Asn2644His) c.487A>C n.7930A>C c.7826A>C (p.Glu2609Ala) | |
13 | g.32362639A>G | CA387747189 | BRCA2 | c.7922A>G (p.Glu2641Gly) c.7553A>G (p.Glu2518Gly) c.389A>G (p.Glu130Gly) c.7930A>G (p.Asn2644Asp) c.487A>G n.7930A>G c.7826A>G (p.Glu2609Gly) | ClinVar dbSNP |
13 | g.32362639A>T | CA387747190 | BRCA2 | c.7922A>T (p.Glu2641Val) c.7553A>T (p.Glu2518Val) c.389A>T (p.Glu130Val) c.7930A>T (p.Asn2644Tyr) c.487A>T n.7930A>T c.7826A>T (p.Glu2609Val) | |
13 | g.32362640dup | CA2573149364 | BRCA2 | c.7923dup (p.Phe2642IlefsTer3) c.7554dup (p.Phe2519IlefsTer3) c.390dup (p.Phe131IlefsTer3) c.7931dup (p.Asn2644LysfsTer?) c.488dup n.7931dup c.7827dup (p.Phe2610IlefsTer3) | ClinVar dbSNP |
13 | g.32362640A>C | CA387747191 | BRCA2 | c.7923A>C (p.Glu2641Asp) c.7554A>C (p.Glu2518Asp) c.390A>C (p.Glu130Asp) c.7931A>C (p.Asn2644Thr) c.488A>C n.7931A>C c.7827A>C (p.Glu2609Asp) | |
13 | g.32362640A>G | CA483260977 | BRCA2 | c.7923A>G (p.Glu2641=) c.7554A>G (p.Glu2518=) c.390A>G (p.Glu130=) c.7931A>G (p.Asn2644Ser) c.488A>G n.7931A>G c.7827A>G (p.Glu2609=) | dbSNP gnomAD v4 |
13 | g.32362640A>T | CA387747192 | BRCA2 | c.7923A>T (p.Glu2641Asp) c.7554A>T (p.Glu2518Asp) c.390A>T (p.Glu130Asp) c.7931A>T (p.Asn2644Ile) c.488A>T n.7931A>T c.7827A>T (p.Glu2609Asp) | dbSNP |
13 | g.32362640_32362641delinsAT | CA2082831706 | BRCA2 | c.7923_7924delinsAT (p.Glu2641=) c.7554_7555delinsAT (p.Glu2518=) c.390_391delinsAT (p.Glu130=) c.7931_7932delinsAT (p.Asn2644=) c.488_489delinsAT n.7931_7932delinsAT c.7827_7828delinsAT (p.Glu2609=) | |
13 | g.32362641T>A | CA387747193 | BRCA2 | c.7924T>A (p.Phe2642Ile) c.7555T>A (p.Phe2519Ile) c.391T>A (p.Phe131Ile) c.7932T>A (p.Asn2644Lys) c.489T>A n.7932T>A c.7828T>A (p.Phe2610Ile) | dbSNP |
13 | g.32362641T>C | CA387747194 | BRCA2 | c.7924T>C (p.Phe2642Leu) c.7555T>C (p.Phe2519Leu) c.391T>C (p.Phe131Leu) c.7932T>C (p.Asn2644=) c.489T>C n.7932T>C c.7828T>C (p.Phe2610Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32362641T>G | CA387747195 | BRCA2 | c.7924T>G (p.Phe2642Val) c.7555T>G (p.Phe2519Val) c.391T>G (p.Phe131Val) c.7932T>G (p.Asn2644Lys) c.489T>G n.7932T>G c.7828T>G (p.Phe2610Val) | |
13 | g.32362641T= | CA2082831716 | BRCA2 | c.7924T= (p.Phe2642=) c.7555T= (p.Phe2519=) c.391T= (p.Phe131=) c.7932T= (p.Asn2644=) c.489T= n.7932T= c.7828T= (p.Phe2610=) | |
13 | g.32362643del | CA025337 | BRCA2 | c.7926del (p.Phe2642LeufsTer6) c.7557del (p.Phe2519LeufsTer6) c.393del (p.Phe131LeufsTer6) c.7934del (p.Leu2645CysfsTer2) c.491del n.7934del c.7830del (p.Phe2610LeufsTer6) | ClinVar dbSNP |
13 | g.32362642T>A | CA387747196 | BRCA2 | c.7925T>A (p.Phe2642Tyr) c.7556T>A (p.Phe2519Tyr) c.392T>A (p.Phe131Tyr) c.7933T>A (p.Leu2645Met) c.490T>A n.7933T>A c.7829T>A (p.Phe2610Tyr) | dbSNP |
13 | g.32362642T>C | CA387747197 | BRCA2 | c.7925T>C (p.Phe2642Ser) c.7556T>C (p.Phe2519Ser) c.392T>C (p.Phe131Ser) c.7933T>C (p.Leu2645=) c.490T>C n.7933T>C c.7829T>C (p.Phe2610Ser) | dbSNP gnomAD v4 |
13 | g.32362642T>G | CA387747198 | BRCA2 | c.7925T>G (p.Phe2642Cys) c.7556T>G (p.Phe2519Cys) c.392T>G (p.Phe131Cys) c.7933T>G (p.Leu2645Val) c.490T>G n.7933T>G c.7829T>G (p.Phe2610Cys) | ClinVar dbSNP |
13 | g.32362642T= | CA2082831721 | BRCA2 | c.7925T= (p.Phe2642=) c.7556T= (p.Phe2519=) c.392T= (p.Phe131=) c.7933T= (p.Leu2645=) c.490T= n.7933T= c.7829T= (p.Phe2610=) | |
13 | g.32362643T>A | CA387747200 | BRCA2 | c.7926T>A (p.Phe2642Leu) c.7557T>A (p.Phe2519Leu) c.393T>A (p.Phe131Leu) c.7934T>A (p.Leu2645Ter) c.491T>A n.7934T>A c.7830T>A (p.Phe2610Leu) | dbSNP |
13 | g.32362643T>C | CA483260981 | BRCA2 | c.7926T>C (p.Phe2642=) c.7557T>C (p.Phe2519=) c.393T>C (p.Phe131=) c.7934T>C (p.Leu2645Ser) c.491T>C n.7934T>C c.7830T>C (p.Phe2610=) | gnomAD v4 |
13 | g.32362643T>G | CA387747199 | BRCA2 | c.7926T>G (p.Phe2642Leu) c.7557T>G (p.Phe2519Leu) c.393T>G (p.Phe131Leu) c.7934T>G (p.Leu2645Trp) c.491T>G n.7934T>G c.7830T>G (p.Phe2610Leu) | ClinVar dbSNP |
13 | g.32362643T= | CA2082831729 | BRCA2 | c.7926T= (p.Phe2642=) c.7557T= (p.Phe2519=) c.393T= (p.Phe131=) c.7934T= (p.Leu2645=) c.491T= n.7934T= c.7830T= (p.Phe2610=) | |
13 | g.32362644G>A | CA387747201 | BRCA2 | c.7927G>A (p.Ala2643Thr) c.7558G>A (p.Ala2520Thr) c.394G>A (p.Ala132Thr) c.7935G>A (p.Leu2645=) c.492G>A n.7935G>A c.7831G>A (p.Ala2611Thr) | ClinVar dbSNP |
13 | g.32362644G>C | CA387747202 | BRCA2 | c.7927G>C (p.Ala2643Pro) c.7558G>C (p.Ala2520Pro) c.394G>C (p.Ala132Pro) c.7935G>C (p.Leu2645Phe) c.492G>C n.7935G>C c.7831G>C (p.Ala2611Pro) | dbSNP |
13 | g.32362644G= | CA2082831739 | BRCA2 | c.7927G= (p.Ala2643=) c.7558G= (p.Ala2520=) c.394G= (p.Ala132=) c.7935G= (p.Leu2645=) c.492G= n.7935G= c.7831G= (p.Ala2611=) | |
13 | g.32362644G>T | CA387747203 | BRCA2 | c.7927G>T (p.Ala2643Ser) c.7558G>T (p.Ala2520Ser) c.394G>T (p.Ala132Ser) c.7935G>T (p.Leu2645Phe) c.492G>T n.7935G>T c.7831G>T (p.Ala2611Ser) | dbSNP gnomAD v4 |
13 | g.32362645C>A | CA387747204 | BRCA2 | c.7928C>A (p.Ala2643Asp) c.7559C>A (p.Ala2520Asp) c.395C>A (p.Ala132Asp) c.7936C>A (p.Leu2646Ile) c.493C>A n.7936C>A c.7832C>A (p.Ala2611Asp) | dbSNP |
13 | g.32362645C= | CA2082831749 | BRCA2 | c.7928C= (p.Ala2643=) c.7559C= (p.Ala2520=) c.395C= (p.Ala132=) c.7936C= (p.Leu2646=) c.493C= n.7936C= c.7832C= (p.Ala2611=) | |
13 | g.32362645C>G | CA025338 | BRCA2 | c.7928C>G (p.Ala2643Gly) c.7559C>G (p.Ala2520Gly) c.395C>G (p.Ala132Gly) c.7936C>G (p.Leu2646Val) c.493C>G n.7936C>G c.7832C>G (p.Ala2611Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362645C>T | CA025339 | BRCA2 | c.7928C>T (p.Ala2643Val) c.7559C>T (p.Ala2520Val) c.395C>T (p.Ala132Val) c.7936C>T (p.Leu2646=) c.493C>T n.7936C>T c.7832C>T (p.Ala2611Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32362646T>A | CA483260987 | BRCA2 | c.7929T>A (p.Ala2643=) c.7560T>A (p.Ala2520=) c.396T>A (p.Ala132=) c.7937T>A (p.Leu2646Gln) c.494T>A n.7937T>A c.7833T>A (p.Ala2611=) | |
13 | g.32362646T>C | CA483260988 | BRCA2 | c.7929T>C (p.Ala2643=) c.7560T>C (p.Ala2520=) c.396T>C (p.Ala132=) c.7937T>C (p.Leu2646Pro) c.494T>C n.7937T>C c.7833T>C (p.Ala2611=) | ClinVar dbSNP |
13 | g.32362646T>G | CA483260986 | BRCA2 | c.7929T>G (p.Ala2643=) c.7560T>G (p.Ala2520=) c.396T>G (p.Ala132=) c.7937T>G (p.Leu2646Arg) c.494T>G n.7937T>G c.7833T>G (p.Ala2611=) | |
13 | g.32362646T= | CA2082831764 | BRCA2 | c.7929T= (p.Ala2643=) c.7560T= (p.Ala2520=) c.396T= (p.Ala132=) c.7937T= (p.Leu2646=) c.494T= n.7937T= c.7833T= (p.Ala2611=) | |
13 | g.32362647A= | CA2082831776 | BRCA2 | c.7930A= (p.Asn2644=) c.7561A= (p.Asn2521=) c.397A= (p.Asn133=) c.7938A= (p.Leu2646=) c.495A= n.7938A= c.7834A= (p.Asn2612=) | |
13 | g.32362647A>C | CA387747205 | BRCA2 | c.7930A>C (p.Asn2644His) c.7561A>C (p.Asn2521His) c.397A>C (p.Asn133His) c.7938A>C (p.Leu2646=) c.495A>C n.7938A>C c.7834A>C (p.Asn2612His) | |
13 | g.32362647A>G | CA025340 | BRCA2 | c.7930A>G (p.Asn2644Asp) c.7561A>G (p.Asn2521Asp) c.397A>G (p.Asn133Asp) c.7938A>G (p.Leu2646=) c.495A>G n.7938A>G c.7834A>G (p.Asn2612Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362647A>T | CA387747206 | BRCA2 | c.7930A>T (p.Asn2644Tyr) c.7561A>T (p.Asn2521Tyr) c.397A>T (p.Asn133Tyr) c.7938A>T (p.Leu2646=) c.495A>T n.7938A>T c.7834A>T (p.Asn2612Tyr) | dbSNP |
13 | g.32362648A= | CA2082831805 | BRCA2 | c.7931A= (p.Asn2644=) c.7562A= (p.Asn2521=) c.398A= (p.Asn133=) c.7939A= (p.Ile2647=) c.496A= n.7939A= c.7835A= (p.Asn2612=) | |
13 | g.32362648A>C | CA387747207 | BRCA2 | c.7931A>C (p.Asn2644Thr) c.7562A>C (p.Asn2521Thr) c.398A>C (p.Asn133Thr) c.7939A>C (p.Ile2647Leu) c.496A>C n.7939A>C c.7835A>C (p.Asn2612Thr) | dbSNP |
13 | g.32362648A>G | CA025341 | BRCA2 | c.7931A>G (p.Asn2644Ser) c.7562A>G (p.Asn2521Ser) c.398A>G (p.Asn133Ser) c.7939A>G (p.Ile2647Val) c.496A>G n.7939A>G c.7835A>G (p.Asn2612Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362648A>T | CA387747208 | BRCA2 | c.7931A>T (p.Asn2644Ile) c.7562A>T (p.Asn2521Ile) c.398A>T (p.Asn133Ile) c.7939A>T (p.Ile2647Leu) c.496A>T n.7939A>T c.7835A>T (p.Asn2612Ile) | dbSNP |
13 | g.32362649T>A | CA387747210 | BRCA2 | c.7932T>A (p.Asn2644Lys) c.7563T>A (p.Asn2521Lys) c.399T>A (p.Asn133Lys) c.7940T>A (p.Ile2647Lys) c.497T>A n.7940T>A c.7836T>A (p.Asn2612Lys) | dbSNP |
13 | g.32362649T>C | CA16614367 | BRCA2 | c.7932T>C (p.Asn2644=) c.7563T>C (p.Asn2521=) c.399T>C (p.Asn133=) c.7940T>C (p.Ile2647Thr) c.497T>C n.7940T>C c.7836T>C (p.Asn2612=) | ClinVar dbSNP |
13 | g.32362649T>G | CA387747209 | BRCA2 | c.7932T>G (p.Asn2644Lys) c.7563T>G (p.Asn2521Lys) c.399T>G (p.Asn133Lys) c.7940T>G (p.Ile2647Arg) c.497T>G n.7940T>G c.7836T>G (p.Asn2612Lys) | ClinVar dbSNP |
13 | g.32362649T= | CA2082831821 | BRCA2 | c.7932T= (p.Asn2644=) c.7563T= (p.Asn2521=) c.399T= (p.Asn133=) c.7940T= (p.Ile2647=) c.497T= n.7940T= c.7836T= (p.Asn2612=) | |
13 | g.32362650A= | CA2082831843 | BRCA2 | c.7933A= (p.Arg2645=) c.7564A= (p.Arg2522=) c.400A= (p.Arg134=) c.7941A= (p.Ile2647=) c.498A= n.7941A= c.7837A= (p.Arg2613=) | |
13 | g.32362650A>C | CA483260991 | BRCA2 | c.7933A>C (p.Arg2645=) c.7564A>C (p.Arg2522=) c.400A>C (p.Arg134=) c.7941A>C (p.Ile2647=) c.498A>C n.7941A>C c.7837A>C (p.Arg2613=) | |
13 | g.32362650A>G | CA10579761 | BRCA2 | c.7933A>G (p.Arg2645Gly) c.7564A>G (p.Arg2522Gly) c.400A>G (p.Arg134Gly) c.7941A>G (p.Ile2647Met) c.498A>G n.7941A>G c.7837A>G (p.Arg2613Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362650A>T | CA10589458 | BRCA2 | c.7933A>T (p.Arg2645Ter) c.7564A>T (p.Arg2522Ter) c.400A>T (p.Arg134Ter) c.7941A>T (p.Ile2647=) c.498A>T n.7941A>T c.7837A>T (p.Arg2613Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362650_32362651delinsAG | CA2082831829 | BRCA2 | c.7933_7934delinsAG (p.Arg2645=) c.7564_7565delinsAG (p.Arg2522=) c.400_401delinsAG (p.Arg134=) c.7941_7942delinsAG (p.Ile2647=) c.498_499delinsAG n.7941_7942delinsAG c.7837_7838delinsAG (p.Arg2613=) | |
13 | g.32362650_32362660delinsCTATTAGCA | CA2573053824 | BRCA2 | c.7933_7943delinsCTATTAGCA (p.Arg2645LeufsTer16) c.7564_7574delinsCTATTAGCA (p.Arg2522LeufsTer16) c.400_410delinsCTATTAGCA (p.Arg134LeufsTer16) c.7941_7951delinsCTATTAGCA (n.[c.7941_7951delinsCTATTAGCA;Asp2648TyrfsTer2]) c.498_508delinsCTATTAGCA c.7837_7847delinsCTATTAGCA (p.Arg2613LeufsTer16) | ClinVar dbSNP |
13 | g.32362651del | CA025344 | BRCA2 | c.7934del (p.Arg2645AsnfsTer3) c.7565del (p.Arg2522AsnfsTer3) c.401del (p.Arg134AsnfsTer3) c.7942del (p.Asp2648MetfsTer16) c.499del n.7942del c.7838del (p.Arg2613AsnfsTer3) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32362651G>A | CA387747211 | BRCA2 | c.7934G>A (p.Arg2645Lys) c.7565G>A (p.Arg2522Lys) c.401G>A (p.Arg134Lys) c.7942G>A (p.Asp2648Asn) c.499G>A n.7942G>A c.7838G>A (p.Arg2613Lys) | dbSNP gnomAD v4 |
13 | g.32362651G>C | CA387747212 | BRCA2 | c.7934G>C (p.Arg2645Thr) c.7565G>C (p.Arg2522Thr) c.401G>C (p.Arg134Thr) c.7942G>C (p.Asp2648His) c.499G>C n.7942G>C c.7838G>C (p.Arg2613Thr) | dbSNP |
13 | g.32362651G>T | CA387747213 | BRCA2 | c.7934G>T (p.Arg2645Ile) c.7565G>T (p.Arg2522Ile) c.401G>T (p.Arg134Ile) c.7942G>T (p.Asp2648Tyr) c.499G>T n.7942G>T c.7838G>T (p.Arg2613Ile) | |
13 | g.32362651_32362652insGCAATTTGCTAAT | CA2580087418 | BRCA2 | c.7934_7935insGCAATTTGCTAAT (p.Cys2646GlnfsTer20) c.7565_7566insGCAATTTGCTAAT (p.Cys2523GlnfsTer20) c.401_402insGCAATTTGCTAAT (p.Cys135GlnfsTer20) c.7942_7943insGCAATTTGCTAAT (p.Asp2648GlyfsTer?) c.499_500insGCAATTTGCTAAT n.7942_7943insGCAATTTGCTAAT c.7838_7839insGCAATTTGCTAAT (p.Cys2614GlnfsTer20) | ClinVar |
13 | g.32362652A= | CA2082831873 | BRCA2 | c.7935A= (p.Arg2645=) c.7566A= (p.Arg2522=) c.402A= (p.Arg134=) c.7943A= (p.Asp2648=) c.500A= n.7943A= c.7839A= (p.Arg2613=) | |
13 | g.32362652A>C | CA387747214 | BRCA2 | c.7935A>C (p.Arg2645Ser) c.7566A>C (p.Arg2522Ser) c.402A>C (p.Arg134Ser) c.7943A>C (p.Asp2648Ala) c.500A>C n.7943A>C c.7839A>C (p.Arg2613Ser) | dbSNP |
13 | g.32362652A>G | CA483260997 | BRCA2 | c.7935A>G (p.Arg2645=) c.7566A>G (p.Arg2522=) c.402A>G (p.Arg134=) c.7943A>G (p.Asp2648Gly) c.500A>G n.7943A>G c.7839A>G (p.Arg2613=) | ClinVar dbSNP |
13 | g.32362652A>T | CA387747215 | BRCA2 | c.7935A>T (p.Arg2645Ser) c.7566A>T (p.Arg2522Ser) c.402A>T (p.Arg134Ser) c.7943A>T (p.Asp2648Val) c.500A>T n.7943A>T c.7839A>T (p.Arg2613Ser) | |
13 | g.32362653T>A | CA387747216 | BRCA2 | c.7936T>A (p.Cys2646Ser) c.7567T>A (p.Cys2523Ser) c.403T>A (p.Cys135Ser) c.7944T>A (p.Asp2648Glu) c.501T>A n.7944T>A c.7840T>A (p.Cys2614Ser) | dbSNP |
13 | g.32362653T>C | CA387747217 | BRCA2 | c.7936T>C (p.Cys2646Arg) c.7567T>C (p.Cys2523Arg) c.403T>C (p.Cys135Arg) c.7944T>C (p.Asp2648=) c.501T>C n.7944T>C c.7840T>C (p.Cys2614Arg) | |
13 | g.32362653T>G | CA387747218 | BRCA2 | c.7936T>G (p.Cys2646Gly) c.7567T>G (p.Cys2523Gly) c.403T>G (p.Cys135Gly) c.7944T>G (p.Asp2648Glu) c.501T>G n.7944T>G c.7840T>G (p.Cys2614Gly) | |
13 | g.32362656_32362674del | CA2580087419 | BRCA2 | c.7939_7957del (p.Leu2647PhefsTer4) c.7570_7588del (p.Leu2524PhefsTer4) c.406_424del (p.Leu136PhefsTer4) c.7947_7965del (n.[c.7947_7965del;Ter2650SerextTer8]) c.504_522del c.7843_7861del (p.Leu2615PhefsTer4) | ClinVar |
13 | g.32362654G>A | CA247475247 | BRCA2 | c.7937G>A (p.Cys2646Tyr) c.7568G>A (p.Cys2523Tyr) c.404G>A (p.Cys135Tyr) c.7945G>A (p.Ala2649Thr) c.502G>A n.7945G>A c.7841G>A (p.Cys2614Tyr) | ClinVar dbSNP |
13 | g.32362654G>C | CA247475250 | BRCA2 | c.7937G>C (p.Cys2646Ser) c.7568G>C (p.Cys2523Ser) c.404G>C (p.Cys135Ser) c.7945G>C (p.Ala2649Pro) c.502G>C n.7945G>C c.7841G>C (p.Cys2614Ser) | dbSNP |
13 | g.32362654G= | CA2082831885 | BRCA2 | c.7937G= (p.Cys2646=) c.7568G= (p.Cys2523=) c.404G= (p.Cys135=) c.7945G= (p.Ala2649=) c.502G= n.7945G= c.7841G= (p.Cys2614=) | |
13 | g.32362654G>T | CA387747219 | BRCA2 | c.7937G>T (p.Cys2646Phe) c.7568G>T (p.Cys2523Phe) c.404G>T (p.Cys135Phe) c.7945G>T (p.Ala2649Ser) c.502G>T n.7945G>T c.7841G>T (p.Cys2614Phe) | dbSNP |
13 | g.32362655C>A | CA387747220 | BRCA2 | c.7938C>A (p.Cys2646Ter) c.7569C>A (p.Cys2523Ter) c.405C>A (p.Cys135Ter) c.7946C>A (p.Ala2649Asp) c.503C>A n.7946C>A c.7842C>A (p.Cys2614Ter) | dbSNP |
13 | g.32362655C= | CA2082831922 | BRCA2 | c.7938C= (p.Cys2646=) c.7569C= (p.Cys2523=) c.405C= (p.Cys135=) c.7946C= (p.Ala2649=) c.503C= n.7946C= c.7842C= (p.Cys2614=) | |
13 | g.32362655C>G | CA16619773 | BRCA2 | c.7938C>G (p.Cys2646Trp) c.7569C>G (p.Cys2523Trp) c.405C>G (p.Cys135Trp) c.7946C>G (p.Ala2649Gly) c.503C>G n.7946C>G c.7842C>G (p.Cys2614Trp) | ClinVar dbSNP |
13 | g.32362655C>T | CA483261000 | BRCA2 | c.7938C>T (p.Cys2646=) c.7569C>T (p.Cys2523=) c.405C>T (p.Cys135=) c.7946C>T (p.Ala2649Val) c.503C>T n.7946C>T c.7842C>T (p.Cys2614=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362656dup | CA658823758 | BRCA2 | c.7939dup (p.Leu2647ProfsTer15) c.7570dup (p.Leu2524ProfsTer15) c.406dup (p.Leu136ProfsTer15) c.7947dup (p.Ter2650LeuextTer?) c.504dup n.7947dup c.7843dup (p.Leu2615ProfsTer15) | ClinVar dbSNP |
13 | g.32362656del | CA2843744718 | BRCA2 | c.7939del (p.Leu2647Ter) c.7570del (p.Leu2524Ter) c.406del (p.Leu136Ter) c.7947del (p.Ter2650LysextTer14) c.504del n.7947del c.7843del (p.Leu2615Ter) | |
13 | g.32362656C>A | CA387747221 | BRCA2 | c.7939C>A (p.Leu2647Ile) c.7570C>A (p.Leu2524Ile) c.406C>A (p.Leu136Ile) c.7947C>A (p.Ala2649=) c.504C>A n.7947C>A c.7843C>A (p.Leu2615Ile) | dbSNP |
13 | g.32362656C= | CA2082831933 | BRCA2 | c.7939C= (p.Leu2647=) c.7570C= (p.Leu2524=) c.406C= (p.Leu136=) c.7947C= (p.Ala2649=) c.504C= n.7947C= c.7843C= (p.Leu2615=) | |
13 | g.32362656C>G | CA025345 | BRCA2 | c.7939C>G (p.Leu2647Val) c.7570C>G (p.Leu2524Val) c.406C>G (p.Leu136Val) c.7947C>G (p.Ala2649=) c.504C>G n.7947C>G c.7843C>G (p.Leu2615Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32362656C>T | CA247475257 | BRCA2 | c.7939C>T (p.Leu2647=) c.7570C>T (p.Leu2524=) c.406C>T (p.Leu136=) c.7947C>T (p.Ala2649=) c.504C>T n.7947C>T c.7843C>T (p.Leu2615=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362657T>A | CA387747222 | BRCA2 | c.7940T>A (p.Leu2647Gln) c.7571T>A (p.Leu2524Gln) c.407T>A (p.Leu136Gln) c.7948T>A (p.Ter2650Lys) c.505T>A n.7948T>A c.7844T>A (p.Leu2615Gln) | |
13 | g.32362657T>C | CA025346 | BRCA2 | c.7940T>C (p.Leu2647Pro) c.7571T>C (p.Leu2524Pro) c.407T>C (p.Leu136Pro) c.7948T>C (p.Ter2650Gln) c.505T>C n.7948T>C c.7844T>C (p.Leu2615Pro) | ClinVar dbSNP |
13 | g.32362657T>G | CA387747223 | BRCA2 | c.7940T>G (p.Leu2647Arg) c.7571T>G (p.Leu2524Arg) c.407T>G (p.Leu136Arg) c.7948T>G (p.Ter2650Glu) c.505T>G n.7948T>G c.7844T>G (p.Leu2615Arg) | |
13 | g.32362657T= | CA2082831982 | BRCA2 | c.7940T= (p.Leu2647=) c.7571T= (p.Leu2524=) c.407T= (p.Leu136=) c.7948T= (p.Ter2650=) c.505T= n.7948T= c.7844T= (p.Leu2615=) | |
13 | g.32362657_32362658insC | CA10581593 | BRCA2 | c.7940_7941insC (p.Ser2648LysfsTer14) c.7571_7572insC (p.Ser2525LysfsTer14) c.407_408insC (p.Ser137LysfsTer14) c.7948_7949insC (p.Ter2650SerextTer?) c.505_506insC n.7948_7949insC c.7844_7845insC (p.Ser2616LysfsTer14) | ClinVar dbSNP |
13 | g.32362658A= | CA2082831993 | BRCA2 | c.7941A= (p.Leu2647=) c.7572A= (p.Leu2524=) c.408A= (p.Leu136=) c.7949A= (p.Ter2650=) c.506A= n.7949A= c.7845A= (p.Leu2615=) | |
13 | g.32362658A>C | CA025348 | BRCA2 | c.7941A>C (p.Leu2647=) c.7572A>C (p.Leu2524=) c.408A>C (p.Leu136=) c.7949A>C (p.Ter2650Ser) c.506A>C n.7949A>C c.7845A>C (p.Leu2615=) | ClinVar dbSNP |
13 | g.32362658A>G | CA247475268 | BRCA2 | c.7941A>G (p.Leu2647=) c.7572A>G (p.Leu2524=) c.408A>G (p.Leu136=) c.7949A>G (p.Ter2650=) c.506A>G n.7949A>G c.7845A>G (p.Leu2615=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362658A>T | CA483261005 | BRCA2 | c.7941A>T (p.Leu2647=) c.7572A>T (p.Leu2524=) c.408A>T (p.Leu136=) c.7949A>T (p.Ter2650Leu) c.506A>T n.7949A>T c.7845A>T (p.Leu2615=) | dbSNP |
13 | g.32362659A>C | CA387747224 | BRCA2 | c.7942A>C (p.Ser2648Arg) c.7573A>C (p.Ser2525Arg) c.409A>C (p.Ser137Arg) c.7950A>C (p.Ter2650Tyr) c.507A>C n.7950A>C c.7846A>C (p.Ser2616Arg) | ClinVar |
13 | g.32362659A>G | CA387747225 | BRCA2 | c.7942A>G (p.Ser2648Gly) c.7573A>G (p.Ser2525Gly) c.409A>G (p.Ser137Gly) c.7950A>G (p.Ter2650=) c.507A>G n.7950A>G c.7846A>G (p.Ser2616Gly) | |
13 | g.32362659A>T | CA387747226 | BRCA2 | c.7942A>T (p.Ser2648Cys) c.7573A>T (p.Ser2525Cys) c.409A>T (p.Ser137Cys) c.7950A>T (p.Ter2650Tyr) c.507A>T n.7950A>T c.7846A>T (p.Ser2616Cys) | dbSNP COSMIC COSMIC |
13 | g.32362660G>A | CA387747227 | BRCA2 | c.7943G>A (p.Ser2648Asn) c.7574G>A (p.Ser2525Asn) c.410G>A (p.Ser137Asn) c.7951G>A (n.7951G>A) c.508G>A c.7847G>A (p.Ser2616Asn) | |
13 | g.32362660G>C | CA387747228 | BRCA2 | c.7943G>C (p.Ser2648Thr) c.7574G>C (p.Ser2525Thr) c.410G>C (p.Ser137Thr) c.7951G>C (n.7951G>C) c.508G>C c.7847G>C (p.Ser2616Thr) | |
13 | g.32362660G= | CA2082832003 | BRCA2 | c.7943G= (p.Ser2648=) c.7574G= (p.Ser2525=) c.410G= (p.Ser137=) c.7951G= (n.7951G=) c.508G= c.7847G= (p.Ser2616=) | |
13 | g.32362660G>T | CA16614218 | BRCA2 | c.7943G>T (p.Ser2648Ile) c.7574G>T (p.Ser2525Ile) c.410G>T (p.Ser137Ile) c.7951G>T (n.7951G>T) c.508G>T c.7847G>T (p.Ser2616Ile) | ClinVar dbSNP |
13 | g.32362660_32362661delinsGC | CA2082832002 | BRCA2 | c.7943_7944delinsGC (p.Ser2648=) c.7574_7575delinsGC (p.Ser2525=) c.410_411delinsGC (p.Ser137=) c.7951_7952delinsGC (n.7951_7952delinsGC) c.508_509delinsGC c.7847_7848delinsGC (p.Ser2616=) | |
13 | g.32362661C>A | CA387747229 | BRCA2 | c.7944C>A (p.Ser2648Arg) c.7575C>A (p.Ser2525Arg) c.411C>A (p.Ser137Arg) c.7952C>A (n.7952C>A) c.509C>A c.7848C>A (p.Ser2616Arg) | dbSNP |
13 | g.32362661C= | CA2082832015 | BRCA2 | c.7944C= (p.Ser2648=) c.7575C= (p.Ser2525=) c.411C= (p.Ser137=) c.7952C= (n.7952C=) c.509C= c.7848C= (p.Ser2616=) | |
13 | g.32362661C>G | CA387747230 | BRCA2 | c.7944C>G (p.Ser2648Arg) c.7575C>G (p.Ser2525Arg) c.411C>G (p.Ser137Arg) c.7952C>G (n.7952C>G) c.509C>G c.7848C>G (p.Ser2616Arg) | dbSNP |
13 | g.32362661C>T | CA483261009 | BRCA2 | c.7944C>T (p.Ser2648=) c.7575C>T (p.Ser2525=) c.411C>T (p.Ser137=) c.7952C>T (n.7952C>T) c.509C>T c.7848C>T (p.Ser2616=) | ClinVar dbSNP |
13 | g.32362663del | CA336502 | BRCA2 | c.7946del (p.Pro2649GlnfsTer8) c.7577del (p.Pro2526GlnfsTer8) c.413del (p.Pro138GlnfsTer8) c.7954del (n.7954del) c.511del c.7850del (p.Pro2617GlnfsTer8) | ClinVar dbSNP |
13 | g.32362662C>A | CA387747232 | BRCA2 | c.7945C>A (p.Pro2649Thr) c.7576C>A (p.Pro2526Thr) c.412C>A (p.Pro138Thr) c.7953C>A (n.7953C>A) c.510C>A c.7849C>A (p.Pro2617Thr) | dbSNP |
13 | g.32362662C>G | CA387747231 | BRCA2 | c.7945C>G (p.Pro2649Ala) c.7576C>G (p.Pro2526Ala) c.412C>G (p.Pro138Ala) c.7953C>G (n.7953C>G) c.510C>G c.7849C>G (p.Pro2617Ala) | dbSNP gnomAD v4 |
13 | g.32362662C>T | CA387747233 | BRCA2 | c.7945C>T (p.Pro2649Ser) c.7576C>T (p.Pro2526Ser) c.412C>T (p.Pro138Ser) c.7953C>T (n.7953C>T) c.510C>T c.7849C>T (p.Pro2617Ser) | ClinVar dbSNP |
13 | g.32362663C>A | CA387747236 | BRCA2 | c.7946C>A (p.Pro2649Gln) c.7577C>A (p.Pro2526Gln) c.413C>A (p.Pro138Gln) c.7954C>A (n.7954C>A) c.511C>A c.7850C>A (p.Pro2617Gln) | dbSNP |
13 | g.32362663C= | CA2082832021 | BRCA2 | c.7946C= (p.Pro2649=) c.7577C= (p.Pro2526=) c.413C= (p.Pro138=) c.7954C= (n.7954C=) c.511C= c.7850C= (p.Pro2617=) | |
13 | g.32362663C>G | CA387747234 | BRCA2 | c.7946C>G (p.Pro2649Arg) c.7577C>G (p.Pro2526Arg) c.413C>G (p.Pro138Arg) c.7954C>G (n.7954C>G) c.511C>G c.7850C>G (p.Pro2617Arg) | dbSNP |
13 | g.32362663C>T | CA387747235 | BRCA2 | c.7946C>T (p.Pro2649Leu) c.7577C>T (p.Pro2526Leu) c.413C>T (p.Pro138Leu) c.7954C>T (n.7954C>T) c.511C>T c.7850C>T (p.Pro2617Leu) | |
13 | g.32362664A= | CA2082832027 | BRCA2 | c.7947A= (p.Pro2649=) c.7578A= (p.Pro2526=) c.414A= (p.Pro138=) c.7955A= (n.7955A=) c.512A= c.7851A= (p.Pro2617=) | |
13 | g.32362664A>C | CA483261012 | BRCA2 | c.7947A>C (p.Pro2649=) c.7578A>C (p.Pro2526=) c.414A>C (p.Pro138=) c.7955A>C (n.7955A>C) c.512A>C c.7851A>C (p.Pro2617=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362664A>G | CA025349 | BRCA2 | c.7947A>G (p.Pro2649=) c.7578A>G (p.Pro2526=) c.414A>G (p.Pro138=) c.7955A>G (n.7955A>G) c.512A>G c.7851A>G (p.Pro2617=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362664A>T | CA483261013 | BRCA2 | c.7947A>T (p.Pro2649=) c.7578A>T (p.Pro2526=) c.414A>T (p.Pro138=) c.7955A>T (n.7955A>T) c.512A>T c.7851A>T (p.Pro2617=) | dbSNP |
13 | g.32362664dup | CA10589459 | BRCA2 | c.7947dup (p.Glu2650ArgfsTer12) c.7578dup (p.Glu2527ArgfsTer12) c.414dup (p.Glu139ArgfsTer12) c.7955dup (n.7955dup) c.512dup c.7851dup (p.Glu2618ArgfsTer12) | ClinVar dbSNP gnomAD v4 |
13 | g.32362665G>A | CA387747237 | BRCA2 | c.7948G>A (p.Glu2650Lys) c.7579G>A (p.Glu2527Lys) c.415G>A (p.Glu139Lys) c.7956G>A (n.7956G>A) c.513G>A c.7852G>A (p.Glu2618Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.32362665G>C | CA387747238 | BRCA2 | c.7948G>C (p.Glu2650Gln) c.7579G>C (p.Glu2527Gln) c.415G>C (p.Glu139Gln) c.7956G>C (n.7956G>C) c.513G>C c.7852G>C (p.Glu2618Gln) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32362665G= | CA2082832033 | BRCA2 | c.7948G= (p.Glu2650=) c.7579G= (p.Glu2527=) c.415G= (p.Glu139=) c.7956G= (n.7956G=) c.513G= c.7852G= (p.Glu2618=) | |
13 | g.32362665G>T | CA387747239 | BRCA2 | c.7948G>T (p.Glu2650Ter) c.7579G>T (p.Glu2527Ter) c.415G>T (p.Glu139Ter) c.7956G>T (n.7956G>T) c.513G>T c.7852G>T (p.Glu2618Ter) | |
13 | g.32362665_32362666delinsGA | CA2082832032 | BRCA2 | c.7948_7949delinsGA (p.Glu2650=) c.7579_7580delinsGA (p.Glu2527=) c.415_416delinsGA (p.Glu139=) c.7956_7957delinsGA (n.7956_7957delinsGA) c.513_514delinsGA c.7852_7853delinsGA (p.Glu2618=) | |
13 | g.32362666A>C | CA387747240 | BRCA2 | c.7949A>C (p.Glu2650Ala) c.7580A>C (p.Glu2527Ala) c.416A>C (p.Glu139Ala) c.7957A>C (n.7957A>C) c.514A>C c.7853A>C (p.Glu2618Ala) | |
13 | g.32362666A>G | CA387747241 | BRCA2 | c.7949A>G (p.Glu2650Gly) c.7580A>G (p.Glu2527Gly) c.416A>G (p.Glu139Gly) c.7957A>G (n.7957A>G) c.514A>G c.7853A>G (p.Glu2618Gly) | ClinVar gnomAD v4 |
13 | g.32362666A>T | CA387747242 | BRCA2 | c.7949A>T (p.Glu2650Val) c.7580A>T (p.Glu2527Val) c.416A>T (p.Glu139Val) c.7957A>T (n.7957A>T) c.514A>T c.7853A>T (p.Glu2618Val) | dbSNP |
13 | g.32362668del | CA10586583 | BRCA2 | c.7951del (p.Arg2651GlyfsTer6) c.7582del (p.Arg2528GlyfsTer6) c.418del (p.Arg140GlyfsTer6) c.7959del (n.7959del) c.516del c.7855del (p.Arg2619GlyfsTer6) | ClinVar dbSNP |
13 | g.32362667A>C | CA387747243 | BRCA2 | c.7950A>C (p.Glu2650Asp) c.7581A>C (p.Glu2527Asp) c.417A>C (p.Glu139Asp) c.7958A>C (n.7958A>C) c.515A>C c.7854A>C (p.Glu2618Asp) | |
13 | g.32362667A>G | CA483261016 | BRCA2 | c.7950A>G (p.Glu2650=) c.7581A>G (p.Glu2527=) c.417A>G (p.Glu139=) c.7958A>G (n.7958A>G) c.515A>G c.7854A>G (p.Glu2618=) | |
13 | g.32362667A>T | CA387747244 | BRCA2 | c.7950A>T (p.Glu2650Asp) c.7581A>T (p.Glu2527Asp) c.417A>T (p.Glu139Asp) c.7958A>T (n.7958A>T) c.515A>T c.7854A>T (p.Glu2618Asp) | |
13 | g.32362668A= | CA2082832040 | BRCA2 | c.7951A= (p.Arg2651=) c.7582A= (p.Arg2528=) c.418A= (p.Arg140=) c.7959A= (n.7959A=) c.516A= c.7855A= (p.Arg2619=) | |
13 | g.32362668A>C | CA483261017 | BRCA2 | c.7951A>C (p.Arg2651=) c.7582A>C (p.Arg2528=) c.418A>C (p.Arg140=) c.7959A>C (n.7959A>C) c.516A>C c.7855A>C (p.Arg2619=) | |
13 | g.32362668A>G | CA387747245 | BRCA2 | c.7951A>G (p.Arg2651Gly) c.7582A>G (p.Arg2528Gly) c.418A>G (p.Arg140Gly) c.7959A>G (n.7959A>G) c.516A>G c.7855A>G (p.Arg2619Gly) | ClinVar dbSNP |
13 | g.32362668A>T | CA387747246 | BRCA2 | c.7951A>T (p.Arg2651Trp) c.7582A>T (p.Arg2528Trp) c.418A>T (p.Arg140Trp) c.7959A>T (n.7959A>T) c.516A>T c.7855A>T (p.Arg2619Trp) | dbSNP |
13 | g.32362668_32362669delinsAG | CA2082832039 | BRCA2 | c.7951_7952delinsAG (p.Arg2651=) c.7582_7583delinsAG (p.Arg2528=) c.418_419delinsAG (p.Arg140=) c.7959_7960delinsAG (n.7959_7960delinsAG) c.516_517delinsAG c.7855_7856delinsAG (p.Arg2619=) | |
13 | g.32362669G>A | CA387747247 | BRCA2 | c.7952G>A (p.Arg2651Lys) c.7583G>A (p.Arg2528Lys) c.419G>A (p.Arg140Lys) c.7960G>A (n.7960G>A) c.517G>A c.7856G>A (p.Arg2619Lys) | dbSNP |
13 | g.32362669G>C | CA387747248 | BRCA2 | c.7952G>C (p.Arg2651Thr) c.7583G>C (p.Arg2528Thr) c.419G>C (p.Arg140Thr) c.7960G>C (n.7960G>C) c.517G>C c.7856G>C (p.Arg2619Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32362669G= | CA2082832045 | BRCA2 | c.7952G= (p.Arg2651=) c.7583G= (p.Arg2528=) c.419G= (p.Arg140=) c.7960G= (n.7960G=) c.517G= c.7856G= (p.Arg2619=) | |
13 | g.32362669G>T | CA387747249 | BRCA2 | c.7952G>T (p.Arg2651Met) c.7583G>T (p.Arg2528Met) c.419G>T (p.Arg140Met) c.7960G>T (n.7960G>T) c.517G>T c.7856G>T (p.Arg2619Met) | |
13 | g.32362671dup | CA2499222314 | BRCA2 | c.7954dup (p.Val2652GlyfsTer10) c.7585dup (p.Val2529GlyfsTer10) c.421dup (p.Val141GlyfsTer10) c.7962dup (n.7962dup) c.519dup c.7858dup (p.Val2620GlyfsTer10) | |
13 | g.32362671del | CA025353 | BRCA2 | c.7954del (p.Val2652CysfsTer5) c.7585del (p.Val2529CysfsTer5) c.421del (p.Val141CysfsTer5) c.7962del (n.7962del) c.519del c.7858del (p.Val2620CysfsTer5) | ClinVar dbSNP |
13 | g.32362670G>A | CA483261023 | BRCA2 | c.7953G>A (p.Arg2651=) c.7584G>A (p.Arg2528=) c.420G>A (p.Arg140=) c.7961G>A (n.7961G>A) c.518G>A c.7857G>A (p.Arg2619=) | dbSNP |
13 | g.32362670G>C | CA387747251 | BRCA2 | c.7953G>C (p.Arg2651Ser) c.7584G>C (p.Arg2528Ser) c.420G>C (p.Arg140Ser) c.7961G>C (n.7961G>C) c.518G>C c.7857G>C (p.Arg2619Ser) | ClinVar dbSNP |
13 | g.32362670G= | CA2082832056 | BRCA2 | c.7953G= (p.Arg2651=) c.7584G= (p.Arg2528=) c.420G= (p.Arg140=) c.7961G= (n.7961G=) c.518G= c.7857G= (p.Arg2619=) | |
13 | g.32362670G>T | CA025352 | BRCA2 | c.7953G>T (p.Arg2651Ser) c.7584G>T (p.Arg2528Ser) c.420G>T (p.Arg140Ser) c.7961G>T (n.7961G>T) c.518G>T c.7857G>T (p.Arg2619Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32362671G>A | CA387747253 | BRCA2 | c.7954G>A (p.Val2652Met) c.7585G>A (p.Val2529Met) c.421G>A (p.Val141Met) c.7962G>A (n.7962G>A) c.519G>A c.7858G>A (p.Val2620Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362671G>C | CA387747256 | BRCA2 | c.7954G>C (p.Val2652Leu) c.7585G>C (p.Val2529Leu) c.421G>C (p.Val141Leu) c.7962G>C (n.7962G>C) c.519G>C c.7858G>C (p.Val2620Leu) | dbSNP |
13 | g.32362671G= | CA2082832097 | BRCA2 | c.7954G= (p.Val2652=) c.7585G= (p.Val2529=) c.421G= (p.Val141=) c.7962G= (n.7962G=) c.519G= c.7858G= (p.Val2620=) | |
13 | g.32362671G>T | CA387747258 | BRCA2 | c.7954G>T (p.Val2652Leu) c.7585G>T (p.Val2529Leu) c.421G>T (p.Val141Leu) c.7962G>T (n.7962G>T) c.519G>T c.7858G>T (p.Val2620Leu) | gnomAD v4 |
13 | g.32362672T>A | CA387747264 | BRCA2 | c.7955T>A (p.Val2652Glu) c.7586T>A (p.Val2529Glu) c.422T>A (p.Val141Glu) c.7963T>A (n.7963T>A) c.520T>A c.7859T>A (p.Val2620Glu) | ClinVar dbSNP |
13 | g.32362672T>C | CA387747266 | BRCA2 | c.7955T>C (p.Val2652Ala) c.7586T>C (p.Val2529Ala) c.422T>C (p.Val141Ala) c.7963T>C (n.7963T>C) c.520T>C c.7859T>C (p.Val2620Ala) | |
13 | g.32362672T>G | CA387747262 | BRCA2 | c.7955T>G (p.Val2652Gly) c.7586T>G (p.Val2529Gly) c.422T>G (p.Val141Gly) c.7963T>G (n.7963T>G) c.520T>G c.7859T>G (p.Val2620Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32362672T= | CA2082832112 | BRCA2 | c.7955T= (p.Val2652=) c.7586T= (p.Val2529=) c.422T= (p.Val141=) c.7963T= (n.7963T=) c.520T= c.7859T= (p.Val2620=) | |
13 | g.32362673_32362676dup | CA2499222315 | BRCA2 | c.7956_7959dup (p.Leu2654AlafsTer9) c.7587_7590dup (p.Leu2531AlafsTer9) c.423_426dup (p.Leu143AlafsTer9) c.7964_7967dup (n.7964_7967dup) c.521_524dup c.7860_7863dup (p.Leu2622AlafsTer9) | ClinVar dbSNP |
13 | g.32362673G>A | CA483261027 | BRCA2 | c.7956G>A (p.Val2652=) c.7587G>A (p.Val2529=) c.423G>A (p.Val141=) c.7964G>A (n.7964G>A) c.521G>A c.7860G>A (p.Val2620=) | ClinVar dbSNP |
13 | g.32362673G>C | CA483261028 | BRCA2 | c.7956G>C (p.Val2652=) c.7587G>C (p.Val2529=) c.423G>C (p.Val141=) c.7964G>C (n.7964G>C) c.521G>C c.7860G>C (p.Val2620=) | dbSNP |
13 | g.32362673G>T | CA483261029 | BRCA2 | c.7956G>T (p.Val2652=) c.7587G>T (p.Val2529=) c.423G>T (p.Val141=) c.7964G>T (n.7964G>T) c.521G>T c.7860G>T (p.Val2620=) | |
13 | g.32362673_32362674del | CA2825002146 | BRCA2 | c.7956_7957del (p.Leu2653SerfsTer8) c.7587_7588del (p.Leu2530SerfsTer8) c.423_424del (p.Leu142SerfsTer8) c.7964_7965del (n.7964_7965del) c.521_522del c.7860_7861del (p.Leu2621SerfsTer8) | ClinVar |
13 | g.32362673_32362676delinsGCTT | CA2082832117 | BRCA2 | c.7956_7959delinsGCTT (p.Val2652=) c.7587_7590delinsGCTT (p.Val2529=) c.423_426delinsGCTT (p.Val141=) c.7964_7967delinsGCTT (n.7964_7967delinsGCTT) c.521_524delinsGCTT c.7860_7863delinsGCTT (p.Val2620=) | |
13 | g.32362674C>A | CA387747269 | BRCA2 | c.7957C>A (p.Leu2653Ile) c.7588C>A (p.Leu2530Ile) c.424C>A (p.Leu142Ile) c.7965C>A (n.7965C>A) c.522C>A c.7861C>A (p.Leu2621Ile) | dbSNP |
13 | g.32362674C= | CA2082832124 | BRCA2 | c.7957C= (p.Leu2653=) c.7588C= (p.Leu2530=) c.424C= (p.Leu142=) c.7965C= (n.7965C=) c.522C= c.7861C= (p.Leu2621=) | |
13 | g.32362674C>G | CA387747272 | BRCA2 | c.7957C>G (p.Leu2653Val) c.7588C>G (p.Leu2530Val) c.424C>G (p.Leu142Val) c.7965C>G (n.7965C>G) c.522C>G c.7861C>G (p.Leu2621Val) | ClinVar dbSNP |
13 | g.32362674C>T | CA6941163 | BRCA2 | c.7957C>T (p.Leu2653Phe) c.7588C>T (p.Leu2530Phe) c.424C>T (p.Leu142Phe) c.7965C>T (n.7965C>T) c.522C>T c.7861C>T (p.Leu2621Phe) | dbSNP ExAC gnomAD v2 |
13 | g.32362674_32362675delinsCT | CA2082832119 | BRCA2 | c.7957_7958delinsCT (p.Leu2653=) c.7588_7589delinsCT (p.Leu2530=) c.424_425delinsCT (p.Leu142=) c.7965_7966delinsCT (n.7965_7966delinsCT) c.522_523delinsCT c.7861_7862delinsCT (p.Leu2621=) | |
13 | g.32362678_32362680del | CA915946883 | BRCA2 | c.7961_7963del (p.Leu2654del) c.7592_7594del (p.Leu2531del) c.428_430del (p.Leu143del) c.7969_7971del (n.7969_7971del) c.526_528del c.7865_7867del (p.Leu2622del) | ClinVar dbSNP |
13 | g.32362675T>A | CA387747275 | BRCA2 | c.7958T>A (p.Leu2653His) c.7589T>A (p.Leu2530His) c.425T>A (p.Leu142His) c.7966T>A (n.7966T>A) c.523T>A c.7862T>A (p.Leu2621His) | dbSNP |
13 | g.32362675T>C | CA025354 | BRCA2 | c.7958T>C (p.Leu2653Pro) c.7589T>C (p.Leu2530Pro) c.425T>C (p.Leu142Pro) c.7966T>C (n.7966T>C) c.523T>C c.7862T>C (p.Leu2621Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32362675T>G | CA16614368 | BRCA2 | c.7958T>G (p.Leu2653Arg) c.7589T>G (p.Leu2530Arg) c.425T>G (p.Leu142Arg) c.7966T>G (n.7966T>G) c.523T>G c.7862T>G (p.Leu2621Arg) | ClinVar dbSNP |
13 | g.32362675T= | CA2082832137 | BRCA2 | c.7958T= (p.Leu2653=) c.7589T= (p.Leu2530=) c.425T= (p.Leu142=) c.7966T= (n.7966T=) c.523T= c.7862T= (p.Leu2621=) | |
13 | g.32362675_32362676dup | CA891843893 | BRCA2 | c.7958_7959dup (p.Leu2654PhefsTer4) c.7589_7590dup (p.Leu2531PhefsTer4) c.425_426dup (p.Leu143PhefsTer4) c.7966_7967dup (n.7966_7967dup) c.523_524dup c.7862_7863dup (p.Leu2622PhefsTer4) | ClinVar dbSNP |
13 | g.32362676del | CA1139663136 | BRCA2 | c.7959del (p.Leu2654PhefsTer3) c.7590del (p.Leu2531PhefsTer3) c.426del (p.Leu143PhefsTer3) c.7967del (n.7967del) c.524del c.7863del (p.Leu2622PhefsTer3) | ClinVar dbSNP |
13 | g.32362676T>A | CA483261031 | BRCA2 | c.7959T>A (p.Leu2653=) c.7590T>A (p.Leu2530=) c.426T>A (p.Leu142=) c.7967T>A (n.7967T>A) c.524T>A c.7863T>A (p.Leu2621=) | dbSNP |
13 | g.32362676T>C | CA483261034 | BRCA2 | c.7959T>C (p.Leu2653=) c.7590T>C (p.Leu2530=) c.426T>C (p.Leu142=) c.7967T>C (n.7967T>C) c.524T>C c.7863T>C (p.Leu2621=) | ClinVar |
13 | g.32362676T>G | CA483261032 | BRCA2 | c.7959T>G (p.Leu2653=) c.7590T>G (p.Leu2530=) c.426T>G (p.Leu142=) c.7967T>G (n.7967T>G) c.524T>G c.7863T>G (p.Leu2621=) | ClinVar dbSNP |
13 | g.32362676T= | CA2082832157 | BRCA2 | c.7959T= (p.Leu2653=) c.7590T= (p.Leu2530=) c.426T= (p.Leu142=) c.7967T= (n.7967T=) c.524T= c.7863T= (p.Leu2621=) | |
13 | g.32362677C>A | CA387747280 | BRCA2 | c.7960C>A (p.Leu2654Ile) c.7591C>A (p.Leu2531Ile) c.427C>A (p.Leu143Ile) c.7968C>A (n.7968C>A) c.525C>A c.7864C>A (p.Leu2622Ile) | |
13 | g.32362677C>G | CA387747282 | BRCA2 | c.7960C>G (p.Leu2654Val) c.7591C>G (p.Leu2531Val) c.427C>G (p.Leu143Val) c.7968C>G (n.7968C>G) c.525C>G c.7864C>G (p.Leu2622Val) | dbSNP |
13 | g.32362677C>T | CA387747284 | BRCA2 | c.7960C>T (p.Leu2654Phe) c.7591C>T (p.Leu2531Phe) c.427C>T (p.Leu143Phe) c.7968C>T (n.7968C>T) c.525C>T c.7864C>T (p.Leu2622Phe) | dbSNP COSMIC COSMIC |
13 | g.32362678T>A | CA387747286 | BRCA2 | c.7961T>A (p.Leu2654His) c.7592T>A (p.Leu2531His) c.428T>A (p.Leu143His) c.7969T>A (n.7969T>A) c.526T>A c.7865T>A (p.Leu2622His) | |
13 | g.32362678T>C | CA025355 | BRCA2 | c.7961T>C (p.Leu2654Pro) c.7592T>C (p.Leu2531Pro) c.428T>C (p.Leu143Pro) c.7969T>C (n.7969T>C) c.526T>C c.7865T>C (p.Leu2622Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362678T>G | CA387747289 | BRCA2 | c.7961T>G (p.Leu2654Arg) c.7592T>G (p.Leu2531Arg) c.428T>G (p.Leu143Arg) c.7969T>G (n.7969T>G) c.526T>G c.7865T>G (p.Leu2622Arg) | |
13 | g.32362678T= | CA2082832164 | BRCA2 | c.7961T= (p.Leu2654=) c.7592T= (p.Leu2531=) c.428T= (p.Leu143=) c.7969T= (n.7969T=) c.526T= c.7865T= (p.Leu2622=) | |
13 | g.32362679T>A | CA483261039 | BRCA2 | c.7962T>A (p.Leu2654=) c.7593T>A (p.Leu2531=) c.429T>A (p.Leu143=) c.7970T>A (n.7970T>A) c.527T>A c.7866T>A (p.Leu2622=) | dbSNP |
13 | g.32362679T>C | CA483261041 | BRCA2 | c.7962T>C (p.Leu2654=) c.7593T>C (p.Leu2531=) c.429T>C (p.Leu143=) c.7970T>C (n.7970T>C) c.527T>C c.7866T>C (p.Leu2622=) | |
13 | g.32362679T>G | CA483261043 | BRCA2 | c.7962T>G (p.Leu2654=) c.7593T>G (p.Leu2531=) c.429T>G (p.Leu143=) c.7970T>G (n.7970T>G) c.527T>G c.7866T>G (p.Leu2622=) | |
13 | g.32362679_32362680delinsTC | CA2082832166 | BRCA2 | c.7962_7963delinsTC (p.Leu2654=) c.7593_7594delinsTC (p.Leu2531=) c.429_430delinsTC (p.Leu143=) c.7970_7971delinsTC (n.7970_7971delinsTC) c.527_528delinsTC c.7866_7867delinsTC (p.Leu2622=) | |
13 | g.32362680del | CA025357 | BRCA2 | c.7963del (p.Gln2655AsnfsTer2) c.7594del (p.Gln2532AsnfsTer2) c.430del (p.Gln144AsnfsTer2) c.7971del (n.7971del) c.528del c.7867del (p.Gln2623AsnfsTer2) | ClinVar dbSNP |
13 | g.32362680C>A | CA387747299 | BRCA2 | c.7963C>A (p.Gln2655Lys) c.7594C>A (p.Gln2532Lys) c.430C>A (p.Gln144Lys) c.7971C>A (n.7971C>A) c.528C>A c.7867C>A (p.Gln2623Lys) | |
13 | g.32362680C= | CA2082832173 | BRCA2 | c.7963C= (p.Gln2655=) c.7594C= (p.Gln2532=) c.430C= (p.Gln144=) c.7971C= (n.7971C=) c.528C= c.7867C= (p.Gln2623=) | |
13 | g.32362680C>G | CA387747297 | BRCA2 | c.7963C>G (p.Gln2655Glu) c.7594C>G (p.Gln2532Glu) c.430C>G (p.Gln144Glu) c.7971C>G (n.7971C>G) c.528C>G c.7867C>G (p.Gln2623Glu) | |
13 | g.32362680C>T | CA025356 | BRCA2 | c.7963C>T (p.Gln2655Ter) c.7594C>T (p.Gln2532Ter) c.430C>T (p.Gln144Ter) c.7971C>T (n.7971C>T) c.528C>T c.7867C>T (p.Gln2623Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32362680_32362681delinsCA | CA2082832178 | BRCA2 | c.7963_7964delinsCA (p.Gln2655=) c.7594_7595delinsCA (p.Gln2532=) c.430_431delinsCA (p.Gln144=) c.7971_7972delinsCA (n.7971_7972delinsCA) c.528_529delinsCA c.7867_7868delinsCA (p.Gln2623=) | |
13 | g.32362680_32362691del | CA1139771309 | BRCA2 | c.7963_7974del (p.Gln2655_Tyr2658del) c.7594_7605del (p.Gln2532_Tyr2535del) c.430_441del (p.Gln144_Tyr147del) c.7971_7982del (n.7971_7982del) c.528_539del c.7867_7878del (p.Gln2623_Tyr2626del) | |
13 | g.32362681A= | CA2082832187 | BRCA2 | c.7964A= (p.Gln2655=) c.7595A= (p.Gln2532=) c.431A= (p.Gln144=) c.7972A= (n.7972A=) c.529A= c.7868A= (p.Gln2623=) | |
13 | g.32362681A>C | CA387747301 | BRCA2 | c.7964A>C (p.Gln2655Pro) c.7595A>C (p.Gln2532Pro) c.431A>C (p.Gln144Pro) c.7972A>C (n.7972A>C) c.529A>C c.7868A>C (p.Gln2623Pro) | |
13 | g.32362681A>G | CA025358 | BRCA2 | c.7964A>G (p.Gln2655Arg) c.7595A>G (p.Gln2532Arg) c.431A>G (p.Gln144Arg) c.7972A>G (n.7972A>G) c.529A>G c.7868A>G (p.Gln2623Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32362681A>T | CA387747306 | BRCA2 | c.7964A>T (p.Gln2655Leu) c.7595A>T (p.Gln2532Leu) c.431A>T (p.Gln144Leu) c.7972A>T (n.7972A>T) c.529A>T c.7868A>T (p.Gln2623Leu) | ClinVar dbSNP |
13 | g.32362681_32362682del | CA2582341813 | BRCA2 | c.7964_7965del (p.Gln2655ProfsTer6) c.7595_7596del (p.Gln2532ProfsTer6) c.431_432del (p.Gln144ProfsTer6) c.7972_7973del (n.7972_7973del) c.529_530del c.7868_7869del (p.Gln2623ProfsTer6) | ClinVar |
13 | g.32362682del | CA913190910 | BRCA2 | c.7965del (p.Gln2655HisfsTer2) c.7596del (p.Gln2532HisfsTer2) c.432del (p.Gln144HisfsTer2) c.7973del (n.7973del) c.530del c.7869del (p.Gln2623HisfsTer2) | ClinVar dbSNP |
13 | g.32362682A= | CA2082832192 | BRCA2 | c.7965A= (p.Gln2655=) c.7596A= (p.Gln2532=) c.432A= (p.Gln144=) c.7973A= (n.7973A=) c.530A= c.7869A= (p.Gln2623=) | |
13 | g.32362682A>C | CA387747309 | BRCA2 | c.7965A>C (p.Gln2655His) c.7596A>C (p.Gln2532His) c.432A>C (p.Gln144His) c.7973A>C (n.7973A>C) c.530A>C c.7869A>C (p.Gln2623His) | |
13 | g.32362682A>G | CA247475304 | BRCA2 | c.7965A>G (p.Gln2655=) c.7596A>G (p.Gln2532=) c.432A>G (p.Gln144=) c.7973A>G (n.7973A>G) c.530A>G c.7869A>G (p.Gln2623=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362682A>T | CA387747311 | BRCA2 | c.7965A>T (p.Gln2655His) c.7596A>T (p.Gln2532His) c.432A>T (p.Gln144His) c.7973A>T (n.7973A>T) c.530A>T c.7869A>T (p.Gln2623His) | ClinVar dbSNP |
13 | g.32362683C>A | CA387747314 | BRCA2 | c.7966C>A (p.Leu2656Ile) c.7597C>A (p.Leu2533Ile) c.433C>A (p.Leu145Ile) c.7974C>A (n.7974C>A) c.531C>A c.7870C>A (p.Leu2624Ile) | dbSNP COSMIC COSMIC |
13 | g.32362683C= | CA2082832202 | BRCA2 | c.7966C= (p.Leu2656=) c.7597C= (p.Leu2533=) c.433C= (p.Leu145=) c.7974C= (n.7974C=) c.531C= c.7870C= (p.Leu2624=) | |
13 | g.32362683C>G | CA387747316 | BRCA2 | c.7966C>G (p.Leu2656Val) c.7597C>G (p.Leu2533Val) c.433C>G (p.Leu145Val) c.7974C>G (n.7974C>G) c.531C>G c.7870C>G (p.Leu2624Val) | ClinVar dbSNP |
13 | g.32362683C>T | CA483261053 | BRCA2 | c.7966C>T (p.Leu2656=) c.7597C>T (p.Leu2533=) c.433C>T (p.Leu145=) c.7974C>T (n.7974C>T) c.531C>T c.7870C>T (p.Leu2624=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362684T>A | CA16613950 | BRCA2 | c.7967T>A (p.Leu2656Gln) c.7598T>A (p.Leu2533Gln) c.434T>A (p.Leu145Gln) c.7975T>A (n.7975T>A) c.532T>A c.7871T>A (p.Leu2624Gln) | ClinVar dbSNP |
13 | g.32362684T>C | CA10575929 | BRCA2 | c.7967T>C (p.Leu2656Pro) c.7598T>C (p.Leu2533Pro) c.434T>C (p.Leu145Pro) c.7975T>C (n.7975T>C) c.532T>C c.7871T>C (p.Leu2624Pro) | ClinVar dbSNP |
13 | g.32362684T>G | CA387747320 | BRCA2 | c.7967T>G (p.Leu2656Arg) c.7598T>G (p.Leu2533Arg) c.434T>G (p.Leu145Arg) c.7975T>G (n.7975T>G) c.532T>G c.7871T>G (p.Leu2624Arg) | |
13 | g.32362684T= | CA2082832208 | BRCA2 | c.7967T= (p.Leu2656=) c.7598T= (p.Leu2533=) c.434T= (p.Leu145=) c.7975T= (n.7975T=) c.532T= c.7871T= (p.Leu2624=) | |
13 | g.32362688_32362704del | CA2580612214 | BRCA2 | c.7971_7976+11del c.7602_7607+11del c.438_443+11del c.7979_7984+11del c.536_541+11del c.7875_7880+11del | |
13 | g.32362685A= | CA2082832235 | BRCA2 | c.7968A= (p.Leu2656=) c.7599A= (p.Leu2533=) c.435A= (p.Leu145=) c.7976A= (n.7976A=) c.533A= c.7872A= (p.Leu2624=) | |
13 | g.32362685A>C | CA483261054 | BRCA2 | c.7968A>C (p.Leu2656=) c.7599A>C (p.Leu2533=) c.435A>C (p.Leu145=) c.7976A>C (n.7976A>C) c.533A>C c.7872A>C (p.Leu2624=) | |
13 | g.32362685A>G | CA483261055 | BRCA2 | c.7968A>G (p.Leu2656=) c.7599A>G (p.Leu2533=) c.435A>G (p.Leu145=) c.7976A>G (n.7976A>G) c.533A>G c.7872A>G (p.Leu2624=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362685A>T | CA483261056 | BRCA2 | c.7968A>T (p.Leu2656=) c.7599A>T (p.Leu2533=) c.435A>T (p.Leu145=) c.7976A>T (n.7976A>T) c.533A>T c.7872A>T (p.Leu2624=) | |
13 | g.32362688dup | CA2727917416 | BRCA2 | c.7971dup (p.Tyr2658IlefsTer4) c.7602dup (p.Tyr2535IlefsTer4) c.438dup (p.Tyr147IlefsTer4) c.7979dup (n.7979dup) c.536dup c.7875dup (p.Tyr2626IlefsTer4) | dbSNP |
13 | g.32362686A>C | CA387747323 | BRCA2 | c.7969A>C (p.Lys2657Gln) c.7600A>C (p.Lys2534Gln) c.436A>C (p.Lys146Gln) c.7977A>C (n.7977A>C) c.534A>C c.7873A>C (p.Lys2625Gln) | |
13 | g.32362686A>G | CA387747324 | BRCA2 | c.7969A>G (p.Lys2657Glu) c.7600A>G (p.Lys2534Glu) c.436A>G (p.Lys146Glu) c.7977A>G (n.7977A>G) c.534A>G c.7873A>G (p.Lys2625Glu) | ClinVar dbSNP |
13 | g.32362686A>T | CA387747327 | BRCA2 | c.7969A>T (p.Lys2657Ter) c.7600A>T (p.Lys2534Ter) c.436A>T (p.Lys146Ter) c.7977A>T (n.7977A>T) c.534A>T c.7873A>T (p.Lys2625Ter) | ClinVar gnomAD v4 |
13 | g.32362688_32362697del | CA2580087432 | BRCA2 | c.7971_7976+4del c.7602_7607+4del c.438_443+4del c.7979_7984+4del c.536_541+4del c.7875_7880+4del | ClinVar |
13 | g.32362687A= | CA2082832254 | BRCA2 | c.7970A= (p.Lys2657=) c.7601A= (p.Lys2534=) c.437A= (p.Lys146=) c.7978A= (n.7978A=) c.535A= c.7874A= (p.Lys2625=) | |
13 | g.32362687A>C | CA387747333 | BRCA2 | c.7970A>C (p.Lys2657Thr) c.7601A>C (p.Lys2534Thr) c.437A>C (p.Lys146Thr) c.7978A>C (n.7978A>C) c.535A>C c.7874A>C (p.Lys2625Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362687A>G | CA387747335 | BRCA2 | c.7970A>G (p.Lys2657Arg) c.7601A>G (p.Lys2534Arg) c.437A>G (p.Lys146Arg) c.7978A>G (n.7978A>G) c.535A>G c.7874A>G (p.Lys2625Arg) | |
13 | g.32362687A>T | CA387747331 | BRCA2 | c.7970A>T (p.Lys2657Ile) c.7601A>T (p.Lys2534Ile) c.437A>T (p.Lys146Ile) c.7978A>T (n.7978A>T) c.535A>T c.7874A>T (p.Lys2625Ile) | |
13 | g.32362688A= | CA2082832265 | BRCA2 | c.7971A= (p.Lys2657=) c.7602A= (p.Lys2534=) c.438A= (p.Lys146=) c.7979A= (n.7979A=) c.536A= c.7875A= (p.Lys2625=) | |
13 | g.32362688A>C | CA387747340 | BRCA2 | c.7971A>C (p.Lys2657Asn) c.7602A>C (p.Lys2534Asn) c.438A>C (p.Lys146Asn) c.7979A>C (n.7979A>C) c.536A>C c.7875A>C (p.Lys2625Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362688A>G | CA338244 | BRCA2 | c.7971A>G (p.Lys2657=) c.7602A>G (p.Lys2534=) c.438A>G (p.Lys146=) c.7979A>G (n.7979A>G) c.536A>G c.7875A>G (p.Lys2625=) | ClinVar dbSNP |
13 | g.32362688A>T | CA387747341 | BRCA2 | c.7971A>T (p.Lys2657Asn) c.7602A>T (p.Lys2534Asn) c.438A>T (p.Lys146Asn) c.7979A>T (n.7979A>T) c.536A>T c.7875A>T (p.Lys2625Asn) | dbSNP |
13 | g.32362689T>A | CA387747344 | BRCA2 | c.7972T>A (p.Tyr2658Asn) c.7603T>A (p.Tyr2535Asn) c.439T>A (p.Tyr147Asn) c.7980T>A (n.7980T>A) c.537T>A c.7876T>A (p.Tyr2626Asn) | dbSNP |
13 | g.32362689T>C | CA025360 | BRCA2 | c.7972T>C (p.Tyr2658His) c.7603T>C (p.Tyr2535His) c.439T>C (p.Tyr147His) c.7980T>C (n.7980T>C) c.537T>C c.7876T>C (p.Tyr2626His) | ClinVar dbSNP |
13 | g.32362689T>G | CA387747347 | BRCA2 | c.7972T>G (p.Tyr2658Asp) c.7603T>G (p.Tyr2535Asp) c.439T>G (p.Tyr147Asp) c.7980T>G (n.7980T>G) c.537T>G c.7876T>G (p.Tyr2626Asp) | |
13 | g.32362689T= | CA2082832272 | BRCA2 | c.7972T= (p.Tyr2658=) c.7603T= (p.Tyr2535=) c.439T= (p.Tyr147=) c.7980T= (n.7980T=) c.537T= c.7876T= (p.Tyr2626=) | |
13 | g.32362690A= | CA2082832288 | BRCA2 | c.7973A= (p.Tyr2658=) c.7604A= (p.Tyr2535=) c.440A= (p.Tyr147=) c.7981A= (n.7981A=) c.538A= c.7877A= (p.Tyr2626=) | |
13 | g.32362690A>C | CA387747351 | BRCA2 | c.7973A>C (p.Tyr2658Ser) c.7604A>C (p.Tyr2535Ser) c.440A>C (p.Tyr147Ser) c.7981A>C (n.7981A>C) c.538A>C c.7877A>C (p.Tyr2626Ser) | dbSNP |
13 | g.32362690A>G | CA387747356 | BRCA2 | c.7973A>G (p.Tyr2658Cys) c.7604A>G (p.Tyr2535Cys) c.440A>G (p.Tyr147Cys) c.7981A>G (n.7981A>G) c.538A>G c.7877A>G (p.Tyr2626Cys) | ClinVar dbSNP |
13 | g.32362690A>T | CA387747353 | BRCA2 | c.7973A>T (p.Tyr2658Phe) c.7604A>T (p.Tyr2535Phe) c.440A>T (p.Tyr147Phe) c.7981A>T (n.7981A>T) c.538A>T c.7877A>T (p.Tyr2626Phe) | dbSNP |
13 | g.32362691C>A | CA10589460 | BRCA2 | c.7974C>A (p.Tyr2658Ter) c.7605C>A (p.Tyr2535Ter) c.441C>A (p.Tyr147Ter) c.7982C>A (n.7982C>A) c.539C>A c.7878C>A (p.Tyr2626Ter) | ClinVar dbSNP |
13 | g.32362691C= | CA2082832305 | BRCA2 | c.7974C= (p.Tyr2658=) c.7605C= (p.Tyr2535=) c.441C= (p.Tyr147=) c.7982C= (n.7982C=) c.539C= c.7878C= (p.Tyr2626=) | |
13 | g.32362691C>G | CA025361 | BRCA2 | c.7974C>G (p.Tyr2658Ter) c.7605C>G (p.Tyr2535Ter) c.441C>G (p.Tyr147Ter) c.7982C>G (n.7982C>G) c.539C>G c.7878C>G (p.Tyr2626Ter) | ClinVar dbSNP |
13 | g.32362691C>T | CA483261063 | BRCA2 | c.7974C>T (p.Tyr2658=) c.7605C>T (p.Tyr2535=) c.441C>T (p.Tyr147=) c.7982C>T (n.7982C>T) c.539C>T c.7878C>T (p.Tyr2626=) | ClinVar dbSNP |
13 | g.32362692A= | CA2082832327 | BRCA2 | c.7975A= (p.Arg2659=) c.7606A= (p.Arg2536=) c.442A= (p.Arg148=) c.7983A= (n.7983A=) c.540A= c.7879A= (p.Arg2627=) | |
13 | g.32362692A>C | CA483261064 | BRCA2 | c.7975A>C (p.Arg2659=) c.7606A>C (p.Arg2536=) c.442A>C (p.Arg148=) c.7983A>C (n.7983A>C) c.540A>C c.7879A>C (p.Arg2627=) | dbSNP |
13 | g.32362692A>G | CA025362 | BRCA2 | c.7975A>G (p.Arg2659Gly) c.7606A>G (p.Arg2536Gly) c.442A>G (p.Arg148Gly) c.7983A>G (n.7983A>G) c.540A>G c.7879A>G (p.Arg2627Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32362692A>T | CA387747363 | BRCA2 | c.7975A>T (p.Arg2659Ter) c.7606A>T (p.Arg2536Ter) c.442A>T (p.Arg148Ter) c.7983A>T (n.7983A>T) c.540A>T c.7879A>T (p.Arg2627Ter) | |
13 | g.32362693G>A | CA025368 | BRCA2 | c.7976G>A (p.Arg2659Lys) c.7607G>A (p.Arg2536Lys) c.443G>A (p.Arg148Lys) c.7984G>A (n.7984G>A) c.541G>A c.7880G>A (p.Arg2627Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32362693G>C | CA025369 | BRCA2 | c.7976G>C (p.Arg2659Thr) c.7607G>C (p.Arg2536Thr) c.443G>C (p.Arg148Thr) c.7984G>C (n.7984G>C) c.541G>C c.7880G>C (p.Arg2627Thr) | ClinVar dbSNP |
13 | g.32362693G= | CA2082832336 | BRCA2 | c.7976G= (p.Arg2659=) c.7607G= (p.Arg2536=) c.443G= (p.Arg148=) c.7984G= (n.7984G=) c.541G= c.7880G= (p.Arg2627=) | |
13 | g.32362693G>T | CA387747368 | BRCA2 | c.7976G>T (p.Arg2659Ile) c.7607G>T (p.Arg2536Ile) c.443G>T (p.Arg148Ile) c.7984G>T (n.7984G>T) c.541G>T c.7880G>T (p.Arg2627Ile) | ClinVar dbSNP |
13 | g.32362694G>A | CA025364 | BRCA2 | c.7976+1G>A (n.7976+1G>A) c.7607+1G>A (n.7607+1G>A) c.443+1G>A (n.443+1G>A) c.7984+1G>A (n.7984+1G>A) c.541+1G>A c.7880+1G>A (n.7880+1G>A) | ClinVar dbSNP |
13 | g.32362694G>C | CA387747372 | BRCA2 | c.7976+1G>C (n.7976+1G>C) c.7607+1G>C (n.7607+1G>C) c.443+1G>C (n.443+1G>C) c.7984+1G>C (n.7984+1G>C) c.541+1G>C c.7880+1G>C (n.7880+1G>C) | dbSNP |
13 | g.32362694G= | CA2082832350 | BRCA2 | c.7976+1G= (n.7976+1G=) c.7607+1G= (n.7607+1G=) c.443+1G= (n.443+1G=) c.7984+1G= (n.7984+1G=) c.541+1G= c.7880+1G= (n.7880+1G=) | |
13 | g.32362694G>T | CA387747374 | BRCA2 | c.7976+1G>T (n.7976+1G>T) c.7607+1G>T (n.7607+1G>T) c.443+1G>T (n.443+1G>T) c.7984+1G>T (n.7984+1G>T) c.541+1G>T c.7880+1G>T (n.7880+1G>T) | ClinVar dbSNP |
13 | g.32362695C>A | CA10602543 | BRCA2 | c.7976+2C>A (n.7976+2C>A) c.7607+2C>A (n.7607+2C>A) c.443+2C>A (n.443+2C>A) c.7984+2C>A (n.7984+2C>A) c.541+2C>A c.7880+2C>A (n.7880+2C>A) | ClinVar dbSNP |
13 | g.32362695C= | CA2082832361 | BRCA2 | c.7976+2C= (n.7976+2C=) c.7607+2C= (n.7607+2C=) c.443+2C= (n.443+2C=) c.7984+2C= (n.7984+2C=) c.541+2C= c.7880+2C= (n.7880+2C=) | |
13 | g.32362695C>G | CA16619774 | BRCA2 | c.7976+2C>G (n.7976+2C>G) c.7607+2C>G (n.7607+2C>G) c.443+2C>G (n.443+2C>G) c.7984+2C>G (n.7984+2C>G) c.541+2C>G c.7880+2C>G (n.7880+2C>G) | ClinVar dbSNP |
13 | g.32362695C>T | CA387747377 | BRCA2 | c.7976+2C>T (n.7976+2C>T) c.7607+2C>T (n.7607+2C>T) c.443+2C>T (n.443+2C>T) c.7984+2C>T (n.7984+2C>T) c.541+2C>T c.7880+2C>T (n.7880+2C>T) | dbSNP gnomAD v4 |
13 | g.32362695_32362697delinsCAA | CA2082832359 | BRCA2 | c.7976+2_7976+4delinsCAA (n.7976+2_7976+4delinsCAA) c.7607+2_7607+4delinsCAA (n.7607+2_7607+4delinsCAA) c.443+2_443+4delinsCAA (n.443+2_443+4delinsCAA) c.7984+2_7984+4delinsCAA (n.7984+2_7984+4delinsCAA) c.541+2_541+4delinsCAA c.7880+2_7880+4delinsCAA (n.7880+2_7880+4delinsCAA) | |
13 | g.32362696A= | CA2082832370 | BRCA2 | c.7976+3A= (n.7976+3A=) c.7607+3A= (n.7607+3A=) c.443+3A= (n.443+3A=) c.7984+3A= (n.7984+3A=) c.541+3A= c.7880+3A= (n.7880+3A=) | |
13 | g.32362696A>C | CA658653813 | BRCA2 | c.7976+3A>C (n.7976+3A>C) c.7607+3A>C (n.7607+3A>C) c.443+3A>C (n.443+3A>C) c.7984+3A>C (n.7984+3A>C) c.541+3A>C c.7880+3A>C (n.7880+3A>C) | ClinVar dbSNP |
13 | g.32362696A>G | CA2727873208 | BRCA2 | c.7976+3A>G (n.7976+3A>G) c.7607+3A>G (n.7607+3A>G) c.443+3A>G (n.443+3A>G) c.7984+3A>G (n.7984+3A>G) c.541+3A>G c.7880+3A>G (n.7880+3A>G) | dbSNP |
13 | g.32362696A>T | CA2727873209 | BRCA2 | c.7976+3A>T (n.7976+3A>T) c.7607+3A>T (n.7607+3A>T) c.443+3A>T (n.443+3A>T) c.7984+3A>T (n.7984+3A>T) c.541+3A>T c.7880+3A>T (n.7880+3A>T) | dbSNP |
13 | g.32362696_32362697del | CA025366 | BRCA2 | c.7976+3_7976+4del (n.7976+3_7976+4del) c.7607+3_7607+4del (n.7607+3_7607+4del) c.443+3_443+4del (n.443+3_443+4del) c.7984+3_7984+4del (n.7984+3_7984+4del) c.541+3_541+4del c.7880+3_7880+4del (n.7880+3_7880+4del) | ClinVar dbSNP |
13 | g.32362697A= | CA2082832375 | BRCA2 | c.7976+4A= (n.7976+4A=) c.7607+4A= (n.7607+4A=) c.443+4A= (n.443+4A=) c.7984+4A= (n.7984+4A=) c.541+4A= c.7880+4A= (n.7880+4A=) | |
13 | g.32362697A>C | CA658656487 | BRCA2 | c.7976+4A>C (n.7976+4A>C) c.7607+4A>C (n.7607+4A>C) c.443+4A>C (n.443+4A>C) c.7984+4A>C (n.7984+4A>C) c.541+4A>C c.7880+4A>C (n.7880+4A>C) | ClinVar dbSNP |
13 | g.32362697A>G | CA10579762 | BRCA2 | c.7976+4A>G (n.7976+4A>G) c.7607+4A>G (n.7607+4A>G) c.443+4A>G (n.443+4A>G) c.7984+4A>G (n.7984+4A>G) c.541+4A>G c.7880+4A>G (n.7880+4A>G) | ClinVar dbSNP gnomAD v4 |
13 | g.32362697A>T | CA2727841632 | BRCA2 | c.7976+4A>T (n.7976+4A>T) c.7607+4A>T (n.7607+4A>T) c.443+4A>T (n.443+4A>T) c.7984+4A>T (n.7984+4A>T) c.541+4A>T c.7880+4A>T (n.7880+4A>T) | dbSNP |
13 | g.32362698G>A | CA025367 | BRCA2 | c.7976+5G>A (n.7976+5G>A) c.7607+5G>A (n.7607+5G>A) c.443+5G>A (n.443+5G>A) c.7984+5G>A (n.7984+5G>A) c.541+5G>A c.7880+5G>A (n.7880+5G>A) | ClinVar dbSNP gnomAD v4 |
13 | g.32362698G>C | CA609091813 | BRCA2 | c.7976+5G>C (n.7976+5G>C) c.7607+5G>C (n.7607+5G>C) c.443+5G>C (n.443+5G>C) c.7984+5G>C (n.7984+5G>C) c.541+5G>C c.7880+5G>C (n.7880+5G>C) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362698G= | CA2082832392 | BRCA2 | c.7976+5G= (n.7976+5G=) c.7607+5G= (n.7607+5G=) c.443+5G= (n.443+5G=) c.7984+5G= (n.7984+5G=) c.541+5G= c.7880+5G= (n.7880+5G=) | |
13 | g.32362698G>T | CA658656488 | BRCA2 | c.7976+5G>T (n.7976+5G>T) c.7607+5G>T (n.7607+5G>T) c.443+5G>T (n.443+5G>T) c.7984+5G>T (n.7984+5G>T) c.541+5G>T c.7880+5G>T (n.7880+5G>T) | ClinVar dbSNP |
13 | g.32362699T>A | CA2727917464 | BRCA2 | c.7976+6T>A (n.7976+6T>A) c.7607+6T>A (n.7607+6T>A) c.443+6T>A (n.443+6T>A) c.7984+6T>A (n.7984+6T>A) c.541+6T>A c.7880+6T>A (n.7880+6T>A) | dbSNP |
13 | g.32362701dup | CA2839550516 | BRCA2 | c.7976+8dup (n.7976+8dup) c.7607+8dup (n.7607+8dup) c.443+8dup (n.443+8dup) c.7984+8dup (n.7984+8dup) c.541+8dup c.7880+8dup (n.7880+8dup) | |
13 | g.32362700T>A | CA2499222316 | BRCA2 | c.7976+7T>A (n.7976+7T>A) c.7607+7T>A (n.7607+7T>A) c.443+7T>A (n.443+7T>A) c.7984+7T>A (n.7984+7T>A) c.541+7T>A c.7880+7T>A (n.7880+7T>A) | ClinVar dbSNP |
13 | g.32362700T>C | CA915946884 | BRCA2 | c.7976+7T>C (n.7976+7T>C) c.7607+7T>C (n.7607+7T>C) c.443+7T>C (n.443+7T>C) c.7984+7T>C (n.7984+7T>C) c.541+7T>C c.7880+7T>C (n.7880+7T>C) | ClinVar dbSNP |
13 | g.32362700T= | CA2082832406 | BRCA2 | c.7976+7T= (n.7976+7T=) c.7607+7T= (n.7607+7T=) c.443+7T= (n.443+7T=) c.7984+7T= (n.7984+7T=) c.541+7T= c.7880+7T= (n.7880+7T=) | |
13 | g.32362701T>A | CA2727917468 | BRCA2 | c.7976+8T>A (n.7976+8T>A) c.7607+8T>A (n.7607+8T>A) c.443+8T>A (n.443+8T>A) c.7984+8T>A (n.7984+8T>A) c.541+8T>A c.7880+8T>A (n.7880+8T>A) | dbSNP |
13 | g.32362701_32362702delinsTA | CA2082832408 | BRCA2 | c.7976+8_7976+9delinsTA (n.7976+8_7976+9delinsTA) c.7607+8_7607+9delinsTA (n.7607+8_7607+9delinsTA) c.443+8_443+9delinsTA (n.443+8_443+9delinsTA) c.7984+8_7984+9delinsTA (n.7984+8_7984+9delinsTA) c.541+8_541+9delinsTA c.7880+8_7880+9delinsTA (n.7880+8_7880+9delinsTA) | |
13 | g.32362702A= | CA2082832413 | BRCA2 | c.7976+9A= (n.7976+9A=) c.7607+9A= (n.7607+9A=) c.443+9A= (n.443+9A=) c.7984+9A= (n.7984+9A=) c.541+9A= c.7880+9A= (n.7880+9A=) | |
13 | g.32362702A>C | CA2580087439 | BRCA2 | c.7976+9A>C (n.7976+9A>C) c.7607+9A>C (n.7607+9A>C) c.443+9A>C (n.443+9A>C) c.7984+9A>C (n.7984+9A>C) c.541+9A>C c.7880+9A>C (n.7880+9A>C) | ClinVar |
13 | g.32362702A>G | CA2082832412 | BRCA2 | c.7976+9A>G (n.7976+9A>G) c.7607+9A>G (n.7607+9A>G) c.443+9A>G (n.443+9A>G) c.7984+9A>G (n.7984+9A>G) c.541+9A>G c.7880+9A>G (n.7880+9A>G) | dbSNP |
13 | g.32362704del | CA6941164 | BRCA2 | c.7976+11del (n.7976+11del) c.7607+11del (n.7607+11del) c.443+11del (n.443+11del) c.7984+11del (n.7984+11del) c.541+11del c.7880+11del (n.7880+11del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32362703A= | CA2082832432 | BRCA2 | c.7976+10A= (n.7976+10A=) c.7607+10A= (n.7607+10A=) c.443+10A= (n.443+10A=) c.7984+10A= (n.7984+10A=) c.541+10A= c.7880+10A= (n.7880+10A=) | |
13 | g.32362703A>G | CA2727874192 | BRCA2 | c.7976+10A>G (n.7976+10A>G) c.7607+10A>G (n.7607+10A>G) c.443+10A>G (n.443+10A>G) c.7984+10A>G (n.7984+10A>G) c.541+10A>G c.7880+10A>G (n.7880+10A>G) | dbSNP |
13 | g.32362703A>T | CA913188565 | BRCA2 | c.7976+10A>T (n.7976+10A>T) c.7607+10A>T (n.7607+10A>T) c.443+10A>T (n.443+10A>T) c.7984+10A>T (n.7984+10A>T) c.541+10A>T c.7880+10A>T (n.7880+10A>T) | ClinVar dbSNP |
13 | g.32362704A= | CA2082832436 | BRCA2 | c.7976+11A= (n.7976+11A=) c.7607+11A= (n.7607+11A=) c.443+11A= (n.443+11A=) c.7984+11A= (n.7984+11A=) c.541+11A= c.7880+11A= (n.7880+11A=) | |
13 | g.32362704A>C | CA658798127 | BRCA2 | c.7976+11A>C (n.7976+11A>C) c.7607+11A>C (n.7607+11A>C) c.443+11A>C (n.443+11A>C) c.7984+11A>C (n.7984+11A>C) c.541+11A>C c.7880+11A>C (n.7880+11A>C) | ClinVar dbSNP |
13 | g.32362705G>A | CA025363 | BRCA2 | c.7976+12G>A (n.7976+12G>A) c.7607+12G>A (n.7607+12G>A) c.443+12G>A (n.443+12G>A) c.7984+12G>A (n.7984+12G>A) c.541+12G>A c.7880+12G>A (n.7880+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362705G>C | CA2838169167 | BRCA2 | c.7976+12G>C (n.7976+12G>C) c.7607+12G>C (n.7607+12G>C) c.443+12G>C (n.443+12G>C) c.7984+12G>C (n.7984+12G>C) c.541+12G>C c.7880+12G>C (n.7880+12G>C) | |
13 | g.32362705G= | CA2082832444 | BRCA2 | c.7976+12G= (n.7976+12G=) c.7607+12G= (n.7607+12G=) c.443+12G= (n.443+12G=) c.7984+12G= (n.7984+12G=) c.541+12G= c.7880+12G= (n.7880+12G=) | |
13 | g.32362705G>T | CA2838169166 | BRCA2 | c.7976+12G>T (n.7976+12G>T) c.7607+12G>T (n.7607+12G>T) c.443+12G>T (n.443+12G>T) c.7984+12G>T (n.7984+12G>T) c.541+12G>T c.7880+12G>T (n.7880+12G>T) | |
13 | g.32362706C>G | CA2727917474 | BRCA2 | c.7976+13C>G (n.7976+13C>G) c.7607+13C>G (n.7607+13C>G) c.443+13C>G (n.443+13C>G) c.7984+13C>G (n.7984+13C>G) c.541+13C>G c.7880+13C>G (n.7880+13C>G) | dbSNP |
13 | g.32362706C>T | CA2697551755 | BRCA2 | c.7976+13C>T (n.7976+13C>T) c.7607+13C>T (n.7607+13C>T) c.443+13C>T (n.443+13C>T) c.7984+13C>T (n.7984+13C>T) c.541+13C>T c.7880+13C>T (n.7880+13C>T) | ClinVar dbSNP |
13 | g.32362707A= | CA2082832448 | BRCA2 | c.7976+14A= (n.7976+14A=) c.7607+14A= (n.7607+14A=) c.443+14A= (n.443+14A=) c.7984+14A= (n.7984+14A=) c.541+14A= c.7880+14A= (n.7880+14A=) | |
13 | g.32362707A>G | CA6941165 | BRCA2 | c.7976+14A>G (n.7976+14A>G) c.7607+14A>G (n.7607+14A>G) c.443+14A>G (n.443+14A>G) c.7984+14A>G (n.7984+14A>G) c.541+14A>G c.7880+14A>G (n.7880+14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362708T>A | CA2727917495 | BRCA2 | c.7976+15T>A (n.7976+15T>A) c.7607+15T>A (n.7607+15T>A) c.443+15T>A (n.443+15T>A) c.7984+15T>A (n.7984+15T>A) c.541+15T>A c.7880+15T>A (n.7880+15T>A) | dbSNP |
13 | g.32362709T>A | CA2727917516 | BRCA2 | c.7976+16T>A (n.7976+16T>A) c.7607+16T>A (n.7607+16T>A) c.443+16T>A (n.443+16T>A) c.7984+16T>A (n.7984+16T>A) c.541+16T>A c.7880+16T>A (n.7880+16T>A) | dbSNP |
13 | g.32362709T>C | CA2727917510 | BRCA2 | c.7976+16T>C (n.7976+16T>C) c.7607+16T>C (n.7607+16T>C) c.443+16T>C (n.443+16T>C) c.7984+16T>C (n.7984+16T>C) c.541+16T>C c.7880+16T>C (n.7880+16T>C) | dbSNP |
13 | g.32362710A= | CA2082832455 | BRCA2 | c.7976+17A= (n.7976+17A=) c.7607+17A= (n.7607+17A=) c.443+17A= (n.443+17A=) c.7984+17A= (n.7984+17A=) c.541+17A= c.7880+17A= (n.7880+17A=) | |
13 | g.32362710A>G | CA6941166 | BRCA2 | c.7976+17A>G (n.7976+17A>G) c.7607+17A>G (n.7607+17A>G) c.443+17A>G (n.443+17A>G) c.7984+17A>G (n.7984+17A>G) c.541+17A>G c.7880+17A>G (n.7880+17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362710A>T | CA2727839134 | BRCA2 | c.7976+17A>T (n.7976+17A>T) c.7607+17A>T (n.7607+17A>T) c.443+17A>T (n.443+17A>T) c.7984+17A>T (n.7984+17A>T) c.541+17A>T c.7880+17A>T (n.7880+17A>T) | dbSNP |
13 | g.32362711C>A | CA609091814 | BRCA2 | c.7976+18C>A (n.7976+18C>A) c.7607+18C>A (n.7607+18C>A) c.443+18C>A (n.443+18C>A) c.7984+18C>A (n.7984+18C>A) c.541+18C>A c.7880+18C>A (n.7880+18C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362711C= | CA2082832466 | BRCA2 | c.7976+18C= (n.7976+18C=) c.7607+18C= (n.7607+18C=) c.443+18C= (n.443+18C=) c.7984+18C= (n.7984+18C=) c.541+18C= c.7880+18C= (n.7880+18C=) | |
13 | g.32362711C>G | CA2727853389 | BRCA2 | c.7976+18C>G (n.7976+18C>G) c.7607+18C>G (n.7607+18C>G) c.443+18C>G (n.443+18C>G) c.7984+18C>G (n.7984+18C>G) c.541+18C>G c.7880+18C>G (n.7880+18C>G) | dbSNP |
13 | g.32362711C>T | CA16606819 | BRCA2 | c.7976+18C>T (n.7976+18C>T) c.7607+18C>T (n.7607+18C>T) c.443+18C>T (n.443+18C>T) c.7984+18C>T (n.7984+18C>T) c.541+18C>T c.7880+18C>T (n.7880+18C>T) | ClinVar dbSNP |
13 | g.32362712A= | CA2082832482 | BRCA2 | c.7976+19A= (n.7976+19A=) c.7607+19A= (n.7607+19A=) c.443+19A= (n.443+19A=) c.7984+19A= (n.7984+19A=) c.541+19A= c.7880+19A= (n.7880+19A=) | |
13 | g.32362712A>G | CA658798128 | BRCA2 | c.7976+19A>G (n.7976+19A>G) c.7607+19A>G (n.7607+19A>G) c.443+19A>G (n.443+19A>G) c.7984+19A>G (n.7984+19A>G) c.541+19A>G c.7880+19A>G (n.7880+19A>G) | ClinVar dbSNP gnomAD v4 |
13 | g.32362712A>T | CA2082832493 | BRCA2 | c.7976+19A>T (n.7976+19A>T) c.7607+19A>T (n.7607+19A>T) c.443+19A>T (n.443+19A>T) c.7984+19A>T (n.7984+19A>T) c.541+19A>T c.7880+19A>T (n.7880+19A>T) | dbSNP |
13 | g.32362713T>A | CA2727917577 | BRCA2 | c.7976+20T>A (n.7976+20T>A) c.7607+20T>A (n.7607+20T>A) c.443+20T>A (n.443+20T>A) c.7984+20T>A (n.7984+20T>A) c.541+20T>A c.7880+20T>A (n.7880+20T>A) | dbSNP |
13 | g.32362713T>C | CA2727917579 | BRCA2 | c.7976+20T>C (n.7976+20T>C) c.7607+20T>C (n.7607+20T>C) c.443+20T>C (n.443+20T>C) c.7984+20T>C (n.7984+20T>C) c.541+20T>C c.7880+20T>C (n.7880+20T>C) | dbSNP |