Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32337976_32337979del | CA2499222140 | BRCA2 | c.3621_3624del (p.Tyr1207Ter) c.3252_3255del (p.Tyr1084Ter) n.3621_3624del | |
13 | g.32337975_32337976dup | CA658656419 | BRCA2 | c.3620_3621dup (p.Leu1208IlefsTer2) c.3251_3252dup (p.Leu1085IlefsTer2) n.3620_3621dup | ClinVar dbSNP |
13 | g.32337976T>A | CA387777577 | BRCA2 | c.3621T>A (p.Tyr1207Ter) c.3252T>A (p.Tyr1084Ter) n.3621T>A | dbSNP |
13 | g.32337976T>C | CA483437671 | BRCA2 | c.3621T>C (p.Tyr1207=) c.3252T>C (p.Tyr1084=) n.3621T>C | ClinVar dbSNP |
13 | g.32337976T>G | CA387777578 | BRCA2 | c.3621T>G (p.Tyr1207Ter) c.3252T>G (p.Tyr1084Ter) n.3621T>G | dbSNP |
13 | g.32337976T= | CA2082818883 | BRCA2 | c.3621T= (p.Tyr1207=) c.3252T= (p.Tyr1084=) n.3621T= | |
13 | g.32337978del | CA2580087113 | BRCA2 | c.3623del (p.Leu1208Ter) c.3254del (p.Leu1085Ter) n.3623del | ClinVar |
13 | g.32337977T>A | CA018418 | BRCA2 | c.3622T>A (p.Leu1208Ile) c.3253T>A (p.Leu1085Ile) n.3622T>A | ClinVar dbSNP |
13 | g.32337977T>C | CA483437672 | BRCA2 | c.3622T>C (p.Leu1208=) c.3253T>C (p.Leu1085=) n.3622T>C | |
13 | g.32337977T>G | CA387777581 | BRCA2 | c.3622T>G (p.Leu1208Val) c.3253T>G (p.Leu1085Val) n.3622T>G | |
13 | g.32337977T= | CA2082818891 | BRCA2 | c.3622T= (p.Leu1208=) c.3253T= (p.Leu1085=) n.3622T= | |
13 | g.32337978T>A | CA387777584 | BRCA2 | c.3623T>A (p.Leu1208Ter) c.3254T>A (p.Leu1085Ter) n.3623T>A | dbSNP COSMIC COSMIC |
13 | g.32337978T>C | CA387777585 | BRCA2 | c.3623T>C (p.Leu1208Ser) c.3254T>C (p.Leu1085Ser) n.3623T>C | ClinVar dbSNP |
13 | g.32337978T>G | CA387777583 | BRCA2 | c.3623T>G (p.Leu1208Ter) c.3254T>G (p.Leu1085Ter) n.3623T>G | |
13 | g.32337978T= | CA2082818911 | BRCA2 | c.3623T= (p.Leu1208=) c.3254T= (p.Leu1085=) n.3623T= | |
13 | g.32337979A= | CA2082818917 | BRCA2 | c.3624A= (p.Leu1208=) c.3255A= (p.Leu1085=) n.3624A= | |
13 | g.32337979A>C | CA387777587 | BRCA2 | c.3624A>C (p.Leu1208Phe) c.3255A>C (p.Leu1085Phe) n.3624A>C | ClinVar dbSNP |
13 | g.32337979A>G | CA483437675 | BRCA2 | c.3624A>G (p.Leu1208=) c.3255A>G (p.Leu1085=) n.3624A>G | dbSNP |
13 | g.32337979A>T | CA387777586 | BRCA2 | c.3624A>T (p.Leu1208Phe) c.3255A>T (p.Leu1085Phe) n.3624A>T | dbSNP |
13 | g.32337980A>C | CA387777589 | BRCA2 | c.3625A>C (p.Thr1209Pro) c.3256A>C (p.Thr1086Pro) n.3625A>C | dbSNP |
13 | g.32337980A>G | CA387777591 | BRCA2 | c.3625A>G (p.Thr1209Ala) c.3256A>G (p.Thr1086Ala) n.3625A>G | dbSNP |
13 | g.32337980A>T | CA387777592 | BRCA2 | c.3625A>T (p.Thr1209Ser) c.3256A>T (p.Thr1086Ser) n.3625A>T | dbSNP |
13 | g.32337981C>A | CA387777594 | BRCA2 | c.3626C>A (p.Thr1209Lys) c.3257C>A (p.Thr1086Lys) n.3626C>A | dbSNP |
13 | g.32337981C>G | CA387777596 | BRCA2 | c.3626C>G (p.Thr1209Arg) c.3257C>G (p.Thr1086Arg) n.3626C>G | ClinVar dbSNP |
13 | g.32337981C>T | CA387777597 | BRCA2 | c.3626C>T (p.Thr1209Ile) c.3257C>T (p.Thr1086Ile) n.3626C>T | dbSNP |
13 | g.32337981_32337983delinsCAG | CA2082818930 | BRCA2 | c.3626_3628delinsCAG (p.Thr1209=) c.3257_3259delinsCAG (p.Thr1086=) n.3626_3628delinsCAG | |
13 | g.32337982A= | CA2082818938 | BRCA2 | c.3627A= (p.Thr1209=) c.3258A= (p.Thr1086=) n.3627A= | |
13 | g.32337982A>C | CA483437680 | BRCA2 | c.3627A>C (p.Thr1209=) c.3258A>C (p.Thr1086=) n.3627A>C | |
13 | g.32337982A>G | CA483437683 | BRCA2 | c.3627A>G (p.Thr1209=) c.3258A>G (p.Thr1086=) n.3627A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337982A>T | CA483437684 | BRCA2 | c.3627A>T (p.Thr1209=) c.3258A>T (p.Thr1086=) n.3627A>T | dbSNP |
13 | g.32337983_32337984del | CA658823676 | BRCA2 | c.3628_3629del (p.Asp1210Ter) c.3259_3260del (p.Asp1087Ter) n.3628_3629del | ClinVar dbSNP |
13 | g.32337983G>A | CA6940710 | BRCA2 | c.3628G>A (p.Asp1210Asn) c.3259G>A (p.Asp1087Asn) n.3628G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337983G>C | CA387777601 | BRCA2 | c.3628G>C (p.Asp1210His) c.3259G>C (p.Asp1087His) n.3628G>C | ClinVar dbSNP |
13 | g.32337983G= | CA2082818947 | BRCA2 | c.3628G= (p.Asp1210=) c.3259G= (p.Asp1087=) n.3628G= | |
13 | g.32337983G>T | CA387777599 | BRCA2 | c.3628G>T (p.Asp1210Tyr) c.3259G>T (p.Asp1087Tyr) n.3628G>T | |
13 | g.32337983_32337989delinsGATGAAA | CA2082818948 | BRCA2 | c.3628_3634delinsGATGAAA (p.Asp1210=) c.3259_3265delinsGATGAAA (p.Asp1087=) n.3628_3634delinsGATGAAA | |
13 | g.32337984A= | CA2082818961 | BRCA2 | c.3629A= (p.Asp1210=) c.3260A= (p.Asp1087=) n.3629A= | |
13 | g.32337984A>C | CA018425 | BRCA2 | c.3629A>C (p.Asp1210Ala) c.3260A>C (p.Asp1087Ala) n.3629A>C | ClinVar dbSNP |
13 | g.32337984A>G | CA387777603 | BRCA2 | c.3629A>G (p.Asp1210Gly) c.3260A>G (p.Asp1087Gly) n.3629A>G | |
13 | g.32337984A>T | CA6940711 | BRCA2 | c.3629A>T (p.Asp1210Val) c.3260A>T (p.Asp1087Val) n.3629A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337989_32337994del | CA6940709 | BRCA2 | c.3634_3639del (p.Asn1212_Glu1213del) c.3265_3270del (p.Asn1089_Glu1090del) n.3634_3639del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337985T>A | CA387777605 | BRCA2 | c.3630T>A (p.Asp1210Glu) c.3261T>A (p.Asp1087Glu) n.3630T>A | |
13 | g.32337985T>C | CA018427 | BRCA2 | c.3630T>C (p.Asp1210=) c.3261T>C (p.Asp1087=) n.3630T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337985T>G | CA16613952 | BRCA2 | c.3630T>G (p.Asp1210Glu) c.3261T>G (p.Asp1087Glu) n.3630T>G | ClinVar dbSNP |
13 | g.32337985T= | CA2082818968 | BRCA2 | c.3630T= (p.Asp1210=) c.3261T= (p.Asp1087=) n.3630T= | |
13 | g.32337986G>A | CA387777608 | BRCA2 | c.3631G>A (p.Glu1211Lys) c.3262G>A (p.Glu1088Lys) n.3631G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337986G>C | CA387777609 | BRCA2 | c.3631G>C (p.Glu1211Gln) c.3262G>C (p.Glu1088Gln) n.3631G>C | |
13 | g.32337986G= | CA2082818980 | BRCA2 | c.3631G= (p.Glu1211=) c.3262G= (p.Glu1088=) n.3631G= | |
13 | g.32337986G>T | CA10589214 | BRCA2 | c.3631G>T (p.Glu1211Ter) c.3262G>T (p.Glu1088Ter) n.3631G>T | ClinVar dbSNP |
13 | g.32337986_32337987delinsGA | CA2082818986 | BRCA2 | c.3631_3632delinsGA (p.Glu1211=) c.3262_3263delinsGA (p.Glu1088=) n.3631_3632delinsGA | |
13 | g.32337987A>C | CA387777912 | BRCA2 | c.3632A>C (p.Glu1211Ala) c.3263A>C (p.Glu1088Ala) n.3632A>C | |
13 | g.32337987A>G | CA387777913 | BRCA2 | c.3632A>G (p.Glu1211Gly) c.3263A>G (p.Glu1088Gly) n.3632A>G | |
13 | g.32337987A>T | CA387777914 | BRCA2 | c.3632A>T (p.Glu1211Val) c.3263A>T (p.Glu1088Val) n.3632A>T | dbSNP |
13 | g.32337990dup | CA658656420 | BRCA2 | c.3635dup (p.Asn1212LysfsTer2) c.3266dup (p.Asn1089LysfsTer2) n.3635dup | ClinVar dbSNP |
13 | g.32337990del | CA913190908 | BRCA2 | c.3635del (p.Asn1212MetfsTer16) c.3266del (p.Asn1089MetfsTer16) n.3635del | ClinVar dbSNP |
13 | g.32337988A>C | CA387777915 | BRCA2 | c.3633A>C (p.Glu1211Asp) c.3264A>C (p.Glu1088Asp) n.3633A>C | |
13 | g.32337988A>G | CA483437649 | BRCA2 | c.3633A>G (p.Glu1211=) c.3264A>G (p.Glu1088=) n.3633A>G | |
13 | g.32337988A>T | CA387777916 | BRCA2 | c.3633A>T (p.Glu1211Asp) c.3264A>T (p.Glu1088Asp) n.3633A>T | dbSNP |
13 | g.32337988_32337992delinsAAATG | CA2082818998 | BRCA2 | c.3633_3637delinsAAATG (p.Glu1211=) c.3264_3268delinsAAATG (p.Glu1088=) n.3633_3637delinsAAATG | |
13 | g.32337989A= | CA2082819006 | BRCA2 | c.3634A= (p.Asn1212=) c.3265A= (p.Asn1089=) n.3634A= | |
13 | g.32337989A>C | CA387777917 | BRCA2 | c.3634A>C (p.Asn1212His) c.3265A>C (p.Asn1089His) n.3634A>C | |
13 | g.32337989A>G | CA387777918 | BRCA2 | c.3634A>G (p.Asn1212Asp) c.3265A>G (p.Asn1089Asp) n.3634A>G | ClinVar dbSNP |
13 | g.32337989A>T | CA387777919 | BRCA2 | c.3634A>T (p.Asn1212Tyr) c.3265A>T (p.Asn1089Tyr) n.3634A>T | dbSNP |
13 | g.32337991_32337994del | CA10579583 | BRCA2 | c.3636_3639del (p.Asn1212LysfsTer15) c.3267_3270del (p.Asn1089LysfsTer15) n.3636_3639del | ClinVar dbSNP |
13 | g.32337990A= | CA2082819019 | BRCA2 | c.3635A= (p.Asn1212=) c.3266A= (p.Asn1089=) n.3635A= | |
13 | g.32337990A>C | CA387777921 | BRCA2 | c.3635A>C (p.Asn1212Thr) c.3266A>C (p.Asn1089Thr) n.3635A>C | |
13 | g.32337990A>G | CA387777920 | BRCA2 | c.3635A>G (p.Asn1212Ser) c.3266A>G (p.Asn1089Ser) n.3635A>G | ClinVar dbSNP |
13 | g.32337990A>T | CA018434 | BRCA2 | c.3635A>T (p.Asn1212Ile) c.3266A>T (p.Asn1089Ile) n.3635A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337991T>A | CA387777922 | BRCA2 | c.3636T>A (p.Asn1212Lys) c.3267T>A (p.Asn1089Lys) n.3636T>A | dbSNP |
13 | g.32337991T>C | CA483437653 | BRCA2 | c.3636T>C (p.Asn1212=) c.3267T>C (p.Asn1089=) n.3636T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337991T>G | CA387777923 | BRCA2 | c.3636T>G (p.Asn1212Lys) c.3267T>G (p.Asn1089Lys) n.3636T>G | ClinVar dbSNP |
13 | g.32337991T= | CA2082819038 | BRCA2 | c.3636T= (p.Asn1212=) c.3267T= (p.Asn1089=) n.3636T= | |
13 | g.32337991_32337992delinsTG | CA2082819034 | BRCA2 | c.3636_3637delinsTG (p.Asn1212=) c.3267_3268delinsTG (p.Asn1089=) n.3636_3637delinsTG | |
13 | g.32337992del | CA10589215 | BRCA2 | c.3637del (p.Glu1213LysfsTer15) c.3268del (p.Glu1090LysfsTer15) n.3637del | ClinVar dbSNP |
13 | g.32337992G>A | CA387777924 | BRCA2 | c.3637G>A (p.Glu1213Lys) c.3268G>A (p.Glu1090Lys) n.3637G>A | ClinVar dbSNP |
13 | g.32337992G>C | CA387777925 | BRCA2 | c.3637G>C (p.Glu1213Gln) c.3268G>C (p.Glu1090Gln) n.3637G>C | dbSNP |
13 | g.32337992G= | CA2082819055 | BRCA2 | c.3637G= (p.Glu1213=) c.3268G= (p.Glu1090=) n.3637G= | |
13 | g.32337992G>T | CA387777926 | BRCA2 | c.3637G>T (p.Glu1213Ter) c.3268G>T (p.Glu1090Ter) n.3637G>T | ClinVar dbSNP |
13 | g.32337992_32337993delinsGA | CA2082819060 | BRCA2 | c.3637_3638delinsGA (p.Glu1213=) c.3268_3269delinsGA (p.Glu1090=) n.3637_3638delinsGA | |
13 | g.32337992_32337996delinsAAGG | CA2695218189 | BRCA2 | c.3637_3641delinsAAGG (p.Glu1213LysfsTer15) c.3268_3272delinsAAGG (p.Glu1090LysfsTer15) n.3637_3641delinsAAGG | ClinVar |
13 | g.32337993A= | CA2082819089 | BRCA2 | c.3638A= (p.Glu1213=) c.3269A= (p.Glu1090=) n.3638A= | |
13 | g.32337993A>C | CA387777928 | BRCA2 | c.3638A>C (p.Glu1213Ala) c.3269A>C (p.Glu1090Ala) n.3638A>C | |
13 | g.32337993A>G | CA387777927 | BRCA2 | c.3638A>G (p.Glu1213Gly) c.3269A>G (p.Glu1090Gly) n.3638A>G | ClinVar dbSNP |
13 | g.32337993A>T | CA387777929 | BRCA2 | c.3638A>T (p.Glu1213Val) c.3269A>T (p.Glu1090Val) n.3638A>T | dbSNP |
13 | g.32337994del | CA018444 | BRCA2 | c.3639del (p.Val1214TrpfsTer14) c.3270del (p.Val1091TrpfsTer14) n.3639del | ClinVar dbSNP COSMIC |
13 | g.32337993_32338007delinsAAGTGGGGTTTAGGG | CA2082819086 | BRCA2 | c.3638_3652delinsAAGTGGGGTTTAGGG (p.Glu1213=) c.3269_3283delinsAAGTGGGGTTTAGGG (p.Glu1090=) n.3638_3652delinsAAGTGGGGTTTAGGG | |
13 | g.32337994A= | CA2082819107 | BRCA2 | c.3639A= (p.Glu1213=) c.3270A= (p.Glu1090=) n.3639A= | |
13 | g.32337994A>C | CA387777930 | BRCA2 | c.3639A>C (p.Glu1213Asp) c.3270A>C (p.Glu1090Asp) n.3639A>C | ClinVar dbSNP |
13 | g.32337994A>G | CA483437660 | BRCA2 | c.3639A>G (p.Glu1213=) c.3270A>G (p.Glu1090=) n.3639A>G | dbSNP |
13 | g.32337994A>T | CA387777931 | BRCA2 | c.3639A>T (p.Glu1213Asp) c.3270A>T (p.Glu1090Asp) n.3639A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337994_32338007del | CA10586512 | BRCA2 | c.3639_3652del (p.Val1214LeufsTer14) c.3270_3283del (p.Val1091LeufsTer14) n.3639_3652del | ClinVar dbSNP |
13 | g.32337995G>A | CA247505516 | BRCA2 | c.3640G>A (p.Val1214Met) c.3271G>A (p.Val1091Met) n.3640G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337995G>C | CA387777932 | BRCA2 | c.3640G>C (p.Val1214Leu) c.3271G>C (p.Val1091Leu) n.3640G>C | dbSNP |
13 | g.32337995G= | CA2082819116 | BRCA2 | c.3640G= (p.Val1214=) c.3271G= (p.Val1091=) n.3640G= | |
13 | g.32337995G>T | CA387777933 | BRCA2 | c.3640G>T (p.Val1214Leu) c.3271G>T (p.Val1091Leu) n.3640G>T | |
13 | g.32337995_32337996delinsGT | CA2082819118 | BRCA2 | c.3640_3641delinsGT (p.Val1214=) c.3271_3272delinsGT (p.Val1091=) n.3640_3641delinsGT | |
13 | g.32337996del | CA018454 | BRCA2 | c.3641del (p.Val1214GlyfsTer14) c.3272del (p.Val1091GlyfsTer14) n.3641del | ClinVar dbSNP |
13 | g.32337996T>A | CA387777936 | BRCA2 | c.3641T>A (p.Val1214Glu) c.3272T>A (p.Val1091Glu) n.3641T>A | |
13 | g.32337996T>C | CA387777934 | BRCA2 | c.3641T>C (p.Val1214Ala) c.3272T>C (p.Val1091Ala) n.3641T>C | |
13 | g.32337996T>G | CA387777935 | BRCA2 | c.3641T>G (p.Val1214Gly) c.3272T>G (p.Val1091Gly) n.3641T>G | |
13 | g.32337996dup | CA018449 | BRCA2 | c.3641dup (p.Phe1216ValfsTer2) c.3272dup (p.Phe1093ValfsTer2) n.3641dup | ClinVar dbSNP |
13 | g.32337996_32338005delinsTGGGGTTTAG | CA2082819135 | BRCA2 | c.3641_3650delinsTGGGGTTTAG (p.Val1214=) c.3272_3281delinsTGGGGTTTAG (p.Val1091=) n.3641_3650delinsTGGGGTTTAG | |
13 | g.32337996_32337997insA | CA2573149328 | BRCA2 | c.3641_3642insA (p.Phe1216ValfsTer2) c.3272_3273insA (p.Phe1093ValfsTer2) n.3641_3642insA | ClinVar dbSNP |
13 | g.32337997G>A | CA16607462 | BRCA2 | c.3642G>A (p.Val1214=) c.3273G>A (p.Val1091=) n.3642G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337997G>C | CA483437665 | BRCA2 | c.3642G>C (p.Val1214=) c.3273G>C (p.Val1091=) n.3642G>C | dbSNP |
13 | g.32337997G= | CA2082819141 | BRCA2 | c.3642G= (p.Val1214=) c.3273G= (p.Val1091=) n.3642G= | |
13 | g.32337997G>T | CA483437667 | BRCA2 | c.3642G>T (p.Val1214=) c.3273G>T (p.Val1091=) n.3642G>T | dbSNP |
13 | g.32338000dup | CA2499222141 | BRCA2 | c.3645dup (p.Phe1216ValfsTer2) c.3276dup (p.Phe1093ValfsTer2) n.3645dup | ClinVar dbSNP |
13 | g.32338000del | CA658761213 | BRCA2 | c.3645del (p.Phe1216LeufsTer12) c.3276del (p.Phe1093LeufsTer12) n.3645del | dbSNP |
13 | g.32338000_32338008del | CA919242481 | BRCA2 | c.3645_3653del (p.Phe1216_Gly1218del) c.3276_3284del (p.Phe1093_Gly1095del) n.3645_3653del | dbSNP |
13 | g.32337998G>A | CA387777937 | BRCA2 | c.3643G>A (p.Gly1215Arg) c.3274G>A (p.Gly1092Arg) n.3643G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337998G>C | CA387777938 | BRCA2 | c.3643G>C (p.Gly1215Arg) c.3274G>C (p.Gly1092Arg) n.3643G>C | dbSNP |
13 | g.32337998G= | CA2082819147 | BRCA2 | c.3643G= (p.Gly1215=) c.3274G= (p.Gly1092=) n.3643G= | |
13 | g.32337998G>T | CA387777939 | BRCA2 | c.3643G>T (p.Gly1215Trp) c.3274G>T (p.Gly1092Trp) n.3643G>T | dbSNP |
13 | g.32337999G>A | CA6940712 | BRCA2 | c.3644G>A (p.Gly1215Glu) c.3275G>A (p.Gly1092Glu) n.3644G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337999G>C | CA387777940 | BRCA2 | c.3644G>C (p.Gly1215Ala) c.3275G>C (p.Gly1092Ala) n.3644G>C | dbSNP |
13 | g.32337999G= | CA2082819158 | BRCA2 | c.3644G= (p.Gly1215=) c.3275G= (p.Gly1092=) n.3644G= | |
13 | g.32337999G>T | CA387777941 | BRCA2 | c.3644G>T (p.Gly1215Val) c.3275G>T (p.Gly1092Val) n.3644G>T | dbSNP gnomAD v4 |
13 | g.32337999_32338001delinsGGT | CA2082819155 | BRCA2 | c.3644_3646delinsGGT (p.Gly1215=) c.3275_3277delinsGGT (p.Gly1092=) n.3644_3646delinsGGT | |
13 | g.32337999_32338001delinsTAAAAAGG | CA2825002129 | BRCA2 | c.3644_3646delinsTAAAAAGG (p.Gly1215ValfsTer15) c.3275_3277delinsTAAAAAGG (p.Gly1092ValfsTer15) n.3644_3646delinsTAAAAAGG | ClinVar |
13 | g.32337999_32338002delinsGGTT | CA2082819169 | BRCA2 | c.3644_3647delinsGGTT (p.Gly1215=) c.3275_3278delinsGGTT (p.Gly1092=) n.3644_3647delinsGGTT | |
13 | g.32338000G>A | CA16613953 | BRCA2 | c.3645G>A (p.Gly1215=) c.3276G>A (p.Gly1092=) n.3645G>A | ClinVar dbSNP |
13 | g.32338000G>C | CA483437674 | BRCA2 | c.3645G>C (p.Gly1215=) c.3276G>C (p.Gly1092=) n.3645G>C | |
13 | g.32338000G= | CA2082819180 | BRCA2 | c.3645G= (p.Gly1215=) c.3276G= (p.Gly1092=) n.3645G= | |
13 | g.32338000G>T | CA483437673 | BRCA2 | c.3645G>T (p.Gly1215=) c.3276G>T (p.Gly1092=) n.3645G>T | |
13 | g.32338000_32338001delinsTAAAAAG | CA018463 | BRCA2 | c.3645_3646delinsTAAAAAG (p.Phe1216LysfsTer14) c.3276_3277delinsTAAAAAG (p.Phe1093LysfsTer14) n.3645_3646delinsTAAAAAG | ClinVar dbSNP |
13 | g.32338000_32338001dup | CA2573149329 | BRCA2 | c.3645_3646dup (p.Phe1216CysfsTer13) c.3276_3277dup (p.Phe1093CysfsTer13) n.3645_3646dup | ClinVar dbSNP |
13 | g.32338000_32338002delinsTA | CA16619698 | BRCA2 | c.3645_3647delinsTA (p.Phe1216IlefsTer12) c.3276_3278delinsTA (p.Phe1093IlefsTer12) n.3645_3647delinsTA | ClinVar dbSNP |
13 | g.32338001T>A | CA387777943 | BRCA2 | c.3646T>A (p.Phe1216Ile) c.3277T>A (p.Phe1093Ile) n.3646T>A | ClinVar dbSNP |
13 | g.32338001T>C | CA387777944 | BRCA2 | c.3646T>C (p.Phe1216Leu) c.3277T>C (p.Phe1093Leu) n.3646T>C | ClinVar dbSNP |
13 | g.32338001T>G | CA387777942 | BRCA2 | c.3646T>G (p.Phe1216Val) c.3277T>G (p.Phe1093Val) n.3646T>G | dbSNP |
13 | g.32338003dup | CA1139663157 | BRCA2 | c.3648dup (p.Arg1217Ter) c.3279dup (p.Arg1094Ter) n.3648dup | ClinVar dbSNP |
13 | g.32338003del | CA2580087215 | BRCA2 | c.3648del (p.Phe1216LeufsTer12) c.3279del (p.Phe1093LeufsTer12) n.3648del | ClinVar dbSNP |
13 | g.32338001_32338004dup | CA2695218190 | BRCA2 | c.3646_3649dup (p.Arg1217IlefsTer2) c.3277_3280dup (p.Arg1094IlefsTer2) n.3646_3649dup | |
13 | g.32338002T>A | CA387777946 | BRCA2 | c.3647T>A (p.Phe1216Tyr) c.3278T>A (p.Phe1093Tyr) n.3647T>A | dbSNP |
13 | g.32338002T>C | CA387777945 | BRCA2 | c.3647T>C (p.Phe1216Ser) c.3278T>C (p.Phe1093Ser) n.3647T>C | dbSNP |
13 | g.32338002T>G | CA387777947 | BRCA2 | c.3647T>G (p.Phe1216Cys) c.3278T>G (p.Phe1093Cys) n.3647T>G | dbSNP |
13 | g.32338003T>A | CA387777948 | BRCA2 | c.3648T>A (p.Phe1216Leu) c.3279T>A (p.Phe1093Leu) n.3648T>A | |
13 | g.32338003T>C | CA483437677 | BRCA2 | c.3648T>C (p.Phe1216=) c.3279T>C (p.Phe1093=) n.3648T>C | |
13 | g.32338003T>G | CA387777949 | BRCA2 | c.3648T>G (p.Phe1216Leu) c.3279T>G (p.Phe1093Leu) n.3648T>G | |
13 | g.32338003_32338004delinsTA | CA2082819196 | BRCA2 | c.3648_3649delinsTA (p.Phe1216=) c.3279_3280delinsTA (p.Phe1093=) n.3648_3649delinsTA | |
13 | g.32338004del | CA348063 | BRCA2 | c.3649del (p.Arg1217GlyfsTer11) c.3280del (p.Arg1094GlyfsTer11) n.3649del | ClinVar dbSNP |
13 | g.32338004A= | CA2082819206 | BRCA2 | c.3649A= (p.Arg1217=) c.3280A= (p.Arg1094=) n.3649A= | |
13 | g.32338004A>C | CA483437678 | BRCA2 | c.3649A>C (p.Arg1217=) c.3280A>C (p.Arg1094=) n.3649A>C | ClinVar |
13 | g.32338004A>G | CA387777950 | BRCA2 | c.3649A>G (p.Arg1217Gly) c.3280A>G (p.Arg1094Gly) n.3649A>G | gnomAD v4 |
13 | g.32338004A>T | CA387777951 | BRCA2 | c.3649A>T (p.Arg1217Trp) c.3280A>T (p.Arg1094Trp) n.3649A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338005G>A | CA387777952 | BRCA2 | c.3650G>A (p.Arg1217Lys) c.3281G>A (p.Arg1094Lys) n.3650G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338005G>C | CA387777953 | BRCA2 | c.3650G>C (p.Arg1217Thr) c.3281G>C (p.Arg1094Thr) n.3650G>C | ClinVar dbSNP |
13 | g.32338005G= | CA2082819211 | BRCA2 | c.3650G= (p.Arg1217=) c.3281G= (p.Arg1094=) n.3650G= | |
13 | g.32338005G>T | CA387777954 | BRCA2 | c.3650G>T (p.Arg1217Met) c.3281G>T (p.Arg1094Met) n.3650G>T | dbSNP |
13 | g.32338008dup | CA2695199699 | BRCA2 | c.3653dup (p.Phe1219LeufsTer14) c.3284dup (p.Phe1096LeufsTer14) n.3653dup | ClinVar |
13 | g.32338006G>A | CA483437685 | BRCA2 | c.3651G>A (p.Arg1217=) c.3282G>A (p.Arg1094=) n.3651G>A | gnomAD v4 |
13 | g.32338006G>C | CA387777955 | BRCA2 | c.3651G>C (p.Arg1217Ser) c.3282G>C (p.Arg1094Ser) n.3651G>C | |
13 | g.32338006G>T | CA387777956 | BRCA2 | c.3651G>T (p.Arg1217Ser) c.3282G>T (p.Arg1094Ser) n.3651G>T | |
13 | g.32338007G>A | CA387777957 | BRCA2 | c.3652G>A (p.Gly1218Ser) c.3283G>A (p.Gly1095Ser) n.3652G>A | ClinVar dbSNP |
13 | g.32338007G>C | CA387777958 | BRCA2 | c.3652G>C (p.Gly1218Arg) c.3283G>C (p.Gly1095Arg) n.3652G>C | dbSNP |
13 | g.32338007G>T | CA387777959 | BRCA2 | c.3652G>T (p.Gly1218Cys) c.3283G>T (p.Gly1095Cys) n.3652G>T | dbSNP |
13 | g.32338008G>A | CA387777960 | BRCA2 | c.3653G>A (p.Gly1218Asp) c.3284G>A (p.Gly1095Asp) n.3653G>A | dbSNP |
13 | g.32338008G>C | CA10584443 | BRCA2 | c.3653G>C (p.Gly1218Ala) c.3284G>C (p.Gly1095Ala) n.3653G>C | ClinVar dbSNP |
13 | g.32338008G= | CA2082819219 | BRCA2 | c.3653G= (p.Gly1218=) c.3284G= (p.Gly1095=) n.3653G= | |
13 | g.32338008G>T | CA387777961 | BRCA2 | c.3653G>T (p.Gly1218Val) c.3284G>T (p.Gly1095Val) n.3653G>T | dbSNP |
13 | g.32338009C>A | CA483437689 | BRCA2 | c.3654C>A (p.Gly1218=) c.3285C>A (p.Gly1095=) n.3654C>A | |
13 | g.32338009C>G | CA483437687 | BRCA2 | c.3654C>G (p.Gly1218=) c.3285C>G (p.Gly1095=) n.3654C>G | gnomAD v4 |
13 | g.32338009C>T | CA483437688 | BRCA2 | c.3654C>T (p.Gly1218=) c.3285C>T (p.Gly1095=) n.3654C>T | gnomAD v4 |
13 | g.32338010T>A | CA387777962 | BRCA2 | c.3655T>A (p.Phe1219Ile) c.3286T>A (p.Phe1096Ile) n.3655T>A | |
13 | g.32338010T>C | CA018474 | BRCA2 | c.3655T>C (p.Phe1219Leu) c.3286T>C (p.Phe1096Leu) n.3655T>C | ClinVar dbSNP |
13 | g.32338010T>G | CA6940713 | BRCA2 | c.3655T>G (p.Phe1219Val) c.3286T>G (p.Phe1096Val) n.3655T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338010T= | CA2082819230 | BRCA2 | c.3655T= (p.Phe1219=) c.3286T= (p.Phe1096=) n.3655T= | |
13 | g.32338011T>A | CA387777963 | BRCA2 | c.3656T>A (p.Phe1219Tyr) c.3287T>A (p.Phe1096Tyr) n.3656T>A | dbSNP |
13 | g.32338011T>C | CA387777964 | BRCA2 | c.3656T>C (p.Phe1219Ser) c.3287T>C (p.Phe1096Ser) n.3656T>C | ClinVar dbSNP |
13 | g.32338011T>G | CA387777965 | BRCA2 | c.3656T>G (p.Phe1219Cys) c.3287T>G (p.Phe1096Cys) n.3656T>G | |
13 | g.32338011T= | CA2082819238 | BRCA2 | c.3656T= (p.Phe1219=) c.3287T= (p.Phe1096=) n.3656T= | |
13 | g.32338012T>A | CA387777966 | BRCA2 | c.3657T>A (p.Phe1219Leu) c.3288T>A (p.Phe1096Leu) n.3657T>A | dbSNP |
13 | g.32338012T>C | CA10579584 | BRCA2 | c.3657T>C (p.Phe1219=) c.3288T>C (p.Phe1096=) n.3657T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338012T>G | CA387777967 | BRCA2 | c.3657T>G (p.Phe1219Leu) c.3288T>G (p.Phe1096Leu) n.3657T>G | dbSNP |
13 | g.32338012T= | CA2082819243 | BRCA2 | c.3657T= (p.Phe1219=) c.3288T= (p.Phe1096=) n.3657T= | |
13 | g.32338014_32338016del | CA2580087218 | BRCA2 | c.3659_3661del (p.Tyr1220del) c.3290_3292del (p.Tyr1097del) n.3659_3661del | ClinVar |
13 | g.32338013T>A | CA387777968 | BRCA2 | c.3658T>A (p.Tyr1220Asn) c.3289T>A (p.Tyr1097Asn) n.3658T>A | dbSNP |
13 | g.32338013T>C | CA018482 | BRCA2 | c.3658T>C (p.Tyr1220His) c.3289T>C (p.Tyr1097His) n.3658T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338013T>G | CA387777969 | BRCA2 | c.3658T>G (p.Tyr1220Asp) c.3289T>G (p.Tyr1097Asp) n.3658T>G | dbSNP |
13 | g.32338013T= | CA2082819257 | BRCA2 | c.3658T= (p.Tyr1220=) c.3289T= (p.Tyr1097=) n.3658T= | |
13 | g.32338013_32338017delinsTATTC | CA2082819269 | BRCA2 | c.3658_3662delinsTATTC (p.Tyr1220=) c.3289_3293delinsTATTC (p.Tyr1097=) n.3658_3662delinsTATTC | |
13 | g.32338014A= | CA2082819296 | BRCA2 | c.3659A= (p.Tyr1220=) c.3290A= (p.Tyr1097=) n.3659A= | |
13 | g.32338014A>C | CA387777970 | BRCA2 | c.3659A>C (p.Tyr1220Ser) c.3290A>C (p.Tyr1097Ser) n.3659A>C | dbSNP |
13 | g.32338014A>G | CA387777971 | BRCA2 | c.3659A>G (p.Tyr1220Cys) c.3290A>G (p.Tyr1097Cys) n.3659A>G | ClinVar dbSNP |
13 | g.32338014A>T | CA387777972 | BRCA2 | c.3659A>T (p.Tyr1220Phe) c.3290A>T (p.Tyr1097Phe) n.3659A>T | dbSNP |
13 | g.32338014dup | CA2695218191 | BRCA2 | c.3659dup (p.Tyr1220Ter) c.3290dup (p.Tyr1097Ter) n.3659dup | |
13 | g.32338014_32338017delinsG | CA658656421 | BRCA2 | c.3659_3662delinsG (p.Tyr1220_Ser1221delinsCys) c.3290_3293delinsG (p.Tyr1097_Ser1098delinsCys) n.3659_3662delinsG | ClinVar dbSNP |
13 | g.32338015T>A | CA387777973 | BRCA2 | c.3660T>A (p.Tyr1220Ter) c.3291T>A (p.Tyr1097Ter) n.3660T>A | dbSNP |
13 | g.32338015T>C | CA483437692 | BRCA2 | c.3660T>C (p.Tyr1220=) c.3291T>C (p.Tyr1097=) n.3660T>C | dbSNP |
13 | g.32338015T>G | CA387777974 | BRCA2 | c.3660T>G (p.Tyr1220Ter) c.3291T>G (p.Tyr1097Ter) n.3660T>G | |
13 | g.32338016T>A | CA387777975 | BRCA2 | c.3661T>A (p.Ser1221Thr) c.3292T>A (p.Ser1098Thr) n.3661T>A | dbSNP |
13 | g.32338016T>C | CA018488 | BRCA2 | c.3661T>C (p.Ser1221Pro) c.3292T>C (p.Ser1098Pro) n.3661T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338016T>G | CA387777976 | BRCA2 | c.3661T>G (p.Ser1221Ala) c.3292T>G (p.Ser1098Ala) n.3661T>G | |
13 | g.32338016T= | CA2082819303 | BRCA2 | c.3661T= (p.Ser1221=) c.3292T= (p.Ser1098=) n.3661T= | |
13 | g.32338017C>A | CA018495 | BRCA2 | c.3662C>A (p.Ser1221Tyr) c.3293C>A (p.Ser1098Tyr) n.3662C>A | ClinVar dbSNP |
13 | g.32338017C= | CA2082819311 | BRCA2 | c.3662C= (p.Ser1221=) c.3293C= (p.Ser1098=) n.3662C= | |
13 | g.32338017C>G | CA387777977 | BRCA2 | c.3662C>G (p.Ser1221Cys) c.3293C>G (p.Ser1098Cys) n.3662C>G | ClinVar dbSNP |
13 | g.32338017C>T | CA387777978 | BRCA2 | c.3662C>T (p.Ser1221Phe) c.3293C>T (p.Ser1098Phe) n.3662C>T | dbSNP gnomAD v4 |
13 | g.32338018T>A | CA483437694 | BRCA2 | c.3663T>A (p.Ser1221=) c.3294T>A (p.Ser1098=) n.3663T>A | dbSNP |
13 | g.32338018T>C | CA483437695 | BRCA2 | c.3663T>C (p.Ser1221=) c.3294T>C (p.Ser1098=) n.3663T>C | ClinVar dbSNP |
13 | g.32338018T>G | CA483437696 | BRCA2 | c.3663T>G (p.Ser1221=) c.3294T>G (p.Ser1098=) n.3663T>G | |
13 | g.32338018T= | CA2082819319 | BRCA2 | c.3663T= (p.Ser1221=) c.3294T= (p.Ser1098=) n.3663T= | |
13 | g.32338019G>A | CA387777979 | BRCA2 | c.3664G>A (p.Ala1222Thr) c.3295G>A (p.Ala1099Thr) n.3664G>A | |
13 | g.32338019G>C | CA387777980 | BRCA2 | c.3664G>C (p.Ala1222Pro) c.3295G>C (p.Ala1099Pro) n.3664G>C | ClinVar |
13 | g.32338019G= | CA2082819326 | BRCA2 | c.3664G= (p.Ala1222=) c.3295G= (p.Ala1099=) n.3664G= | |
13 | g.32338019G>T | CA387777981 | BRCA2 | c.3664G>T (p.Ala1222Ser) c.3295G>T (p.Ala1099Ser) n.3664G>T | ClinVar dbSNP |
13 | g.32338020C>A | CA387777982 | BRCA2 | c.3665C>A (p.Ala1222Asp) c.3296C>A (p.Ala1099Asp) n.3665C>A | dbSNP |
13 | g.32338020C= | CA2082819334 | BRCA2 | c.3665C= (p.Ala1222=) c.3296C= (p.Ala1099=) n.3665C= | |
13 | g.32338020C>G | CA6940714 | BRCA2 | c.3665C>G (p.Ala1222Gly) c.3296C>G (p.Ala1099Gly) n.3665C>G | ClinVar dbSNP ExAC |
13 | g.32338020C>T | CA387777983 | BRCA2 | c.3665C>T (p.Ala1222Val) c.3296C>T (p.Ala1099Val) n.3665C>T | ClinVar dbSNP |
13 | g.32338021_32338022dup | CA2580610698 | BRCA2 | c.3666_3667dup (p.His1223LeufsTer6) c.3297_3298dup (p.His1100LeufsTer6) n.3666_3667dup | |
13 | g.32338021T>A | CA483437697 | BRCA2 | c.3666T>A (p.Ala1222=) c.3297T>A (p.Ala1099=) n.3666T>A | dbSNP |
13 | g.32338021T>C | CA483437698 | BRCA2 | c.3666T>C (p.Ala1222=) c.3297T>C (p.Ala1099=) n.3666T>C | ClinVar |
13 | g.32338021T>G | CA6940715 | BRCA2 | c.3666T>G (p.Ala1222=) c.3297T>G (p.Ala1099=) n.3666T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338021T= | CA2082819362 | BRCA2 | c.3666T= (p.Ala1222=) c.3297T= (p.Ala1099=) n.3666T= | |
13 | g.32338022C>A | CA387777985 | BRCA2 | c.3667C>A (p.His1223Asn) c.3298C>A (p.His1100Asn) n.3667C>A | dbSNP COSMIC COSMIC |
13 | g.32338022C= | CA2082819371 | BRCA2 | c.3667C= (p.His1223=) c.3298C= (p.His1100=) n.3667C= | |
13 | g.32338022C>G | CA387777984 | BRCA2 | c.3667C>G (p.His1223Asp) c.3298C>G (p.His1100Asp) n.3667C>G | dbSNP |
13 | g.32338022C>T | CA018502 | BRCA2 | c.3667C>T (p.His1223Tyr) c.3298C>T (p.His1100Tyr) n.3667C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338023A= | CA2082819382 | BRCA2 | c.3668A= (p.His1223=) c.3299A= (p.His1100=) n.3668A= | |
13 | g.32338023A>C | CA387777986 | BRCA2 | c.3668A>C (p.His1223Pro) c.3299A>C (p.His1100Pro) n.3668A>C | dbSNP |
13 | g.32338023A>G | CA018509 | BRCA2 | c.3668A>G (p.His1223Arg) c.3299A>G (p.His1100Arg) n.3668A>G | ClinVar dbSNP |
13 | g.32338023A>T | CA387777987 | BRCA2 | c.3668A>T (p.His1223Leu) c.3299A>T (p.His1100Leu) n.3668A>T | ClinVar dbSNP |
13 | g.32338024T>A | CA387777988 | BRCA2 | c.3669T>A (p.His1223Gln) c.3300T>A (p.His1100Gln) n.3669T>A | |
13 | g.32338024T>C | CA10583092 | BRCA2 | c.3669T>C (p.His1223=) c.3300T>C (p.His1100=) n.3669T>C | ClinVar dbSNP |
13 | g.32338024T>G | CA387777989 | BRCA2 | c.3669T>G (p.His1223Gln) c.3300T>G (p.His1100Gln) n.3669T>G | |
13 | g.32338024T= | CA2082819389 | BRCA2 | c.3669T= (p.His1223=) c.3300T= (p.His1100=) n.3669T= | |
13 | g.32338025G>A | CA387777990 | BRCA2 | c.3670G>A (p.Gly1224Ser) c.3301G>A (p.Gly1101Ser) n.3670G>A | ClinVar dbSNP COSMIC COSMIC |
13 | g.32338025G>C | CA387777991 | BRCA2 | c.3670G>C (p.Gly1224Arg) c.3301G>C (p.Gly1101Arg) n.3670G>C | dbSNP |
13 | g.32338025G>T | CA387777992 | BRCA2 | c.3670G>T (p.Gly1224Cys) c.3301G>T (p.Gly1101Cys) n.3670G>T | dbSNP gnomAD v4 |
13 | g.32338026G>A | CA387777993 | BRCA2 | c.3671G>A (p.Gly1224Asp) c.3302G>A (p.Gly1101Asp) n.3671G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338026G>C | CA387777994 | BRCA2 | c.3671G>C (p.Gly1224Ala) c.3302G>C (p.Gly1101Ala) n.3671G>C | dbSNP |
13 | g.32338026G= | CA2082819405 | BRCA2 | c.3671G= (p.Gly1224=) c.3302G= (p.Gly1101=) n.3671G= | |
13 | g.32338026G>T | CA018515 | BRCA2 | c.3671G>T (p.Gly1224Val) c.3302G>T (p.Gly1101Val) n.3671G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338027C>A | CA483437702 | BRCA2 | c.3672C>A (p.Gly1224=) c.3303C>A (p.Gly1101=) n.3672C>A | dbSNP |
13 | g.32338027C= | CA2082819415 | BRCA2 | c.3672C= (p.Gly1224=) c.3303C= (p.Gly1101=) n.3672C= | |
13 | g.32338027C>G | CA483437703 | BRCA2 | c.3672C>G (p.Gly1224=) c.3303C>G (p.Gly1101=) n.3672C>G | ClinVar dbSNP |
13 | g.32338027C>T | CA018521 | BRCA2 | c.3672C>T (p.Gly1224=) c.3303C>T (p.Gly1101=) n.3672C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338028A>C | CA387777996 | BRCA2 | c.3673A>C (p.Thr1225Pro) c.3304A>C (p.Thr1102Pro) n.3673A>C | ClinVar dbSNP |
13 | g.32338028A>G | CA387777995 | BRCA2 | c.3673A>G (p.Thr1225Ala) c.3304A>G (p.Thr1102Ala) n.3673A>G | |
13 | g.32338028A>T | CA387777997 | BRCA2 | c.3673A>T (p.Thr1225Ser) c.3304A>T (p.Thr1102Ser) n.3673A>T | dbSNP |
13 | g.32338029C>A | CA387777998 | BRCA2 | c.3674C>A (p.Thr1225Lys) c.3305C>A (p.Thr1102Lys) n.3674C>A | ClinVar dbSNP |
13 | g.32338029C= | CA2082819444 | BRCA2 | c.3674C= (p.Thr1225=) c.3305C= (p.Thr1102=) n.3674C= | |
13 | g.32338029C>G | CA387777999 | BRCA2 | c.3674C>G (p.Thr1225Arg) c.3305C>G (p.Thr1102Arg) n.3674C>G | ClinVar |
13 | g.32338029C>T | CA387778000 | BRCA2 | c.3674C>T (p.Thr1225Ile) c.3305C>T (p.Thr1102Ile) n.3674C>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338030A= | CA2082819457 | BRCA2 | c.3675A= (p.Thr1225=) c.3306A= (p.Thr1102=) n.3675A= | |
13 | g.32338030A>C | CA483437708 | BRCA2 | c.3675A>C (p.Thr1225=) c.3306A>C (p.Thr1102=) n.3675A>C | ClinVar dbSNP |
13 | g.32338030A>G | CA018527 | BRCA2 | c.3675A>G (p.Thr1225=) c.3306A>G (p.Thr1102=) n.3675A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338030A>T | CA483437707 | BRCA2 | c.3675A>T (p.Thr1225=) c.3306A>T (p.Thr1102=) n.3675A>T | dbSNP |
13 | g.32338033dup | CA658683867 | BRCA2 | c.3678dup (p.Leu1227ThrfsTer6) c.3309dup (p.Leu1104ThrfsTer6) n.3678dup | ClinVar dbSNP |
13 | g.32338031A= | CA2082819489 | BRCA2 | c.3676A= (p.Lys1226=) c.3307A= (p.Lys1103=) n.3676A= | |
13 | g.32338031A>C | CA018533 | BRCA2 | c.3676A>C (p.Lys1226Gln) c.3307A>C (p.Lys1103Gln) n.3676A>C | ClinVar dbSNP |
13 | g.32338031A>G | CA387778001 | BRCA2 | c.3676A>G (p.Lys1226Glu) c.3307A>G (p.Lys1103Glu) n.3676A>G | dbSNP |
13 | g.32338031A>T | CA387778002 | BRCA2 | c.3676A>T (p.Lys1226Ter) c.3307A>T (p.Lys1103Ter) n.3676A>T | dbSNP |
13 | g.32338031_32338036delinsAAACTG | CA2082819486 | BRCA2 | c.3676_3681delinsAAACTG (p.Lys1226=) c.3307_3312delinsAAACTG (p.Lys1103=) n.3676_3681delinsAAACTG | |
13 | g.32338032A= | CA2082819504 | BRCA2 | c.3677A= (p.Lys1226=) c.3308A= (p.Lys1103=) n.3677A= | |
13 | g.32338032A>C | CA387778003 | BRCA2 | c.3677A>C (p.Lys1226Thr) c.3308A>C (p.Lys1103Thr) n.3677A>C | ClinVar dbSNP |
13 | g.32338032A>G | CA387778004 | BRCA2 | c.3677A>G (p.Lys1226Arg) c.3308A>G (p.Lys1103Arg) n.3677A>G | |
13 | g.32338032A>T | CA018539 | BRCA2 | c.3677A>T (p.Lys1226Ile) c.3308A>T (p.Lys1103Ile) n.3677A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338034_32338038del | CA658683868 | BRCA2 | c.3679_3683del (p.Leu1227CysfsTer4) c.3310_3314del (p.Leu1104CysfsTer4) n.3679_3683del | ClinVar dbSNP |
13 | g.32338033A>C | CA387778005 | BRCA2 | c.3678A>C (p.Lys1226Asn) c.3309A>C (p.Lys1103Asn) n.3678A>C | |
13 | g.32338033A>G | CA483437709 | BRCA2 | c.3678A>G (p.Lys1226=) c.3309A>G (p.Lys1103=) n.3678A>G | ClinVar dbSNP |
13 | g.32338033A>T | CA387778006 | BRCA2 | c.3678A>T (p.Lys1226Asn) c.3309A>T (p.Lys1103Asn) n.3678A>T | dbSNP |
13 | g.32338034C>A | CA387778007 | BRCA2 | c.3679C>A (p.Leu1227Met) c.3310C>A (p.Leu1104Met) n.3679C>A | dbSNP |
13 | g.32338034C= | CA2082819518 | BRCA2 | c.3679C= (p.Leu1227=) c.3310C= (p.Leu1104=) n.3679C= | |
13 | g.32338034C>G | CA387778008 | BRCA2 | c.3679C>G (p.Leu1227Val) c.3310C>G (p.Leu1104Val) n.3679C>G | ClinVar dbSNP |
13 | g.32338034C>T | CA483437711 | BRCA2 | c.3679C>T (p.Leu1227=) c.3310C>T (p.Leu1104=) n.3679C>T | |
13 | g.32338034_32338036delinsCTG | CA2082819513 | BRCA2 | c.3679_3681delinsCTG (p.Leu1227=) c.3310_3312delinsCTG (p.Leu1104=) n.3679_3681delinsCTG | |
13 | g.32338034_32338038delinsCTGAA | CA2082819515 | BRCA2 | c.3679_3683delinsCTGAA (p.Leu1227=) c.3310_3314delinsCTGAA (p.Leu1104=) n.3679_3683delinsCTGAA | |
13 | g.32338035T>A | CA387778009 | BRCA2 | c.3680T>A (p.Leu1227Gln) c.3311T>A (p.Leu1104Gln) n.3680T>A | dbSNP |
13 | g.32338035T>C | CA387778010 | BRCA2 | c.3680T>C (p.Leu1227Pro) c.3311T>C (p.Leu1104Pro) n.3680T>C | ClinVar dbSNP |
13 | g.32338035T>G | CA387778011 | BRCA2 | c.3680T>G (p.Leu1227Arg) c.3311T>G (p.Leu1104Arg) n.3680T>G | |
13 | g.32338035T= | CA2082819534 | BRCA2 | c.3680T= (p.Leu1227=) c.3311T= (p.Leu1104=) n.3680T= | |
13 | g.32338035_32338036del | CA018546 | BRCA2 | c.3680_3681del (p.Leu1227GlnfsTer5) c.3311_3312del (p.Leu1104GlnfsTer5) n.3680_3681del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338035_32338036delinsTG | CA2082819537 | BRCA2 | c.3680_3681delinsTG (p.Leu1227=) c.3311_3312delinsTG (p.Leu1104=) n.3680_3681delinsTG | |
13 | g.32338037_32338040del | CA018554 | BRCA2 | c.3682_3685del (p.Asn1228PhefsTer10) c.3313_3316del (p.Asn1105PhefsTer10) n.3682_3685del | ClinVar dbSNP gnomAD v4 |
13 | g.32338036del | CA10586513 | BRCA2 | c.3681del (p.Asn1228MetfsTer11) c.3312del (p.Asn1105MetfsTer11) n.3681del | ClinVar dbSNP |
13 | g.32338036G>A | CA6940716 | BRCA2 | c.3681G>A (p.Leu1227=) c.3312G>A (p.Leu1104=) n.3681G>A | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32338036G>C | CA10579585 | BRCA2 | c.3681G>C (p.Leu1227=) c.3312G>C (p.Leu1104=) n.3681G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338036G= | CA2082819552 | BRCA2 | c.3681G= (p.Leu1227=) c.3312G= (p.Leu1104=) n.3681G= | |
13 | g.32338036G>T | CA483437712 | BRCA2 | c.3681G>T (p.Leu1227=) c.3312G>T (p.Leu1104=) n.3681G>T | |
13 | g.32338037A= | CA2082819569 | BRCA2 | c.3682A= (p.Asn1228=) c.3313A= (p.Asn1105=) n.3682A= | |
13 | g.32338037A>C | CA387778012 | BRCA2 | c.3682A>C (p.Asn1228His) c.3313A>C (p.Asn1105His) n.3682A>C | |
13 | g.32338037A>G | CA018564 | BRCA2 | c.3682A>G (p.Asn1228Asp) c.3313A>G (p.Asn1105Asp) n.3682A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338037A>T | CA387778013 | BRCA2 | c.3682A>T (p.Asn1228Tyr) c.3313A>T (p.Asn1105Tyr) n.3682A>T | dbSNP |
13 | g.32338037_32338038delinsAA | CA2082819588 | BRCA2 | c.3682_3683delinsAA (p.Asn1228=) c.3313_3314delinsAA (p.Asn1105=) n.3682_3683delinsAA | |
13 | g.32338038dup | CA609453784 | BRCA2 | c.3683dup (p.Asn1228LysfsTer5) c.3314dup (p.Asn1105LysfsTer5) n.3683dup | gnomAD v2 |
13 | g.32338038del | CA2580087219 | BRCA2 | c.3683del (p.Asn1228MetfsTer11) c.3314del (p.Asn1105MetfsTer11) n.3683del | ClinVar |
13 | g.32338038A= | CA2082819601 | BRCA2 | c.3683A= (p.Asn1228=) c.3314A= (p.Asn1105=) n.3683A= | |
13 | g.32338038A>C | CA387778015 | BRCA2 | c.3683A>C (p.Asn1228Thr) c.3314A>C (p.Asn1105Thr) n.3683A>C | dbSNP |
13 | g.32338038A>G | CA018570 | BRCA2 | c.3683A>G (p.Asn1228Ser) c.3314A>G (p.Asn1105Ser) n.3683A>G | ClinVar dbSNP |
13 | g.32338038A>T | CA387778014 | BRCA2 | c.3683A>T (p.Asn1228Ile) c.3314A>T (p.Asn1105Ile) n.3683A>T | ClinVar dbSNP |
13 | g.32338038delinsGG | CA645372958 | BRCA2 | c.3683delinsGG (p.Asn1228ArgfsTer5) c.3314delinsGG (p.Asn1105ArgfsTer5) n.3683delinsGG | ClinVar dbSNP |
13 | g.32338038_32338040delinsATG | CA2082819596 | BRCA2 | c.3683_3685delinsATG (p.Asn1228=) c.3314_3316delinsATG (p.Asn1105=) n.3683_3685delinsATG | |
13 | g.32338038_32338039insG | CA2499222142 | BRCA2 | c.3683_3684insG (p.Asn1228LysfsTer5) c.3314_3315insG (p.Asn1105LysfsTer5) n.3683_3684insG | ClinVar dbSNP |
13 | g.32338039T>A | CA387778016 | BRCA2 | c.3684T>A (p.Asn1228Lys) c.3315T>A (p.Asn1105Lys) n.3684T>A | ClinVar dbSNP |
13 | g.32338039T>C | CA483437714 | BRCA2 | c.3684T>C (p.Asn1228=) c.3315T>C (p.Asn1105=) n.3684T>C | ClinVar gnomAD v4 |
13 | g.32338039T>G | CA387778017 | BRCA2 | c.3684T>G (p.Asn1228Lys) c.3315T>G (p.Asn1105Lys) n.3684T>G | |
13 | g.32338039delinsAA | CA2825002130 | BRCA2 | c.3684delinsAA (p.Asn1228LysfsTer5) c.3315delinsAA (p.Asn1105LysfsTer5) n.3684delinsAA | ClinVar |
13 | g.32338039_32338040delinsTG | CA2082819619 | BRCA2 | c.3684_3685delinsTG (p.Asn1228=) c.3315_3316delinsTG (p.Asn1105=) n.3684_3685delinsTG | |
13 | g.32338040_32338041del | CA10589216 | BRCA2 | c.3685_3686del (p.Val1229PhefsTer3) c.3316_3317del (p.Val1106PhefsTer3) n.3685_3686del | ClinVar dbSNP |
13 | g.32338040del | CA018575 | BRCA2 | c.3685del (p.Val1229PhefsTer10) c.3316del (p.Val1106PhefsTer10) n.3685del | ClinVar dbSNP |
13 | g.32338040G>A | CA018583 | BRCA2 | c.3685G>A (p.Val1229Ile) c.3316G>A (p.Val1106Ile) n.3685G>A | ClinVar dbSNP COSMIC COSMIC |
13 | g.32338040G>C | CA387778018 | BRCA2 | c.3685G>C (p.Val1229Leu) c.3316G>C (p.Val1106Leu) n.3685G>C | |
13 | g.32338040G= | CA2082819630 | BRCA2 | c.3685G= (p.Val1229=) c.3316G= (p.Val1106=) n.3685G= | |
13 | g.32338040G>T | CA387778019 | BRCA2 | c.3685G>T (p.Val1229Phe) c.3316G>T (p.Val1106Phe) n.3685G>T | |
13 | g.32338040_32338041delinsGT | CA2082819635 | BRCA2 | c.3685_3686delinsGT (p.Val1229=) c.3316_3317delinsGT (p.Val1106=) n.3685_3686delinsGT | |
13 | g.32338041T>A | CA387778020 | BRCA2 | c.3686T>A (p.Val1229Asp) c.3317T>A (p.Val1106Asp) n.3686T>A | dbSNP |
13 | g.32338041T>C | CA387778022 | BRCA2 | c.3686T>C (p.Val1229Ala) c.3317T>C (p.Val1106Ala) n.3686T>C | ClinVar dbSNP |
13 | g.32338041T>G | CA387778021 | BRCA2 | c.3686T>G (p.Val1229Gly) c.3317T>G (p.Val1106Gly) n.3686T>G | |
13 | g.32338043_32338044insAATTT | CA2082819653 | BRCA2 | c.3688_3689insAATTT (p.Ser1230Ter) c.3319_3320insAATTT (p.Ser1107Ter) n.3688_3689insAATTT | dbSNP |
13 | g.32338043del | CA10583093 | BRCA2 | c.3688del (p.Ser1230LeufsTer9) c.3319del (p.Ser1107LeufsTer9) n.3688del | ClinVar dbSNP COSMIC |
13 | g.32338042T>A | CA483437718 | BRCA2 | c.3687T>A (p.Val1229=) c.3318T>A (p.Val1106=) n.3687T>A | dbSNP |
13 | g.32338042T>C | CA483437716 | BRCA2 | c.3687T>C (p.Val1229=) c.3318T>C (p.Val1106=) n.3687T>C | |
13 | g.32338042T>G | CA483437717 | BRCA2 | c.3687T>G (p.Val1229=) c.3318T>G (p.Val1106=) n.3687T>G | |
13 | g.32338042_32338044delinsTTC | CA2082819661 | BRCA2 | c.3687_3689delinsTTC (p.Val1229=) c.3318_3320delinsTTC (p.Val1106=) n.3687_3689delinsTTC | |
13 | g.32338043T>A | CA387778023 | BRCA2 | c.3688T>A (p.Ser1230Thr) c.3319T>A (p.Ser1107Thr) n.3688T>A | dbSNP |
13 | g.32338043T>C | CA387778024 | BRCA2 | c.3688T>C (p.Ser1230Pro) c.3319T>C (p.Ser1107Pro) n.3688T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338043T>G | CA10579586 | BRCA2 | c.3688T>G (p.Ser1230Ala) c.3319T>G (p.Ser1107Ala) n.3688T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338043T= | CA2082819703 | BRCA2 | c.3688T= (p.Ser1230=) c.3319T= (p.Ser1107=) n.3688T= | |
13 | g.32338043_32338044delinsTC | CA2082819689 | BRCA2 | c.3688_3689delinsTC (p.Ser1230=) c.3319_3320delinsTC (p.Ser1107=) n.3688_3689delinsTC | |
13 | g.32338044_32338045del | CA354139 | BRCA2 | c.3689_3690del (p.Ser1230TyrfsTer2) c.3320_3321del (p.Ser1107TyrfsTer2) n.3689_3690del | ClinVar dbSNP |
13 | g.32338044del | CA018587 | BRCA2 | c.3689del (p.Ser1230LeufsTer9) c.3320del (p.Ser1107LeufsTer9) n.3689del | ClinVar dbSNP gnomAD v4 |
13 | g.32338044C>A | CA387778025 | BRCA2 | c.3689C>A (p.Ser1230Tyr) c.3320C>A (p.Ser1107Tyr) n.3689C>A | |
13 | g.32338044C>G | CA387778027 | BRCA2 | c.3689C>G (p.Ser1230Cys) c.3320C>G (p.Ser1107Cys) n.3689C>G | ClinVar dbSNP |
13 | g.32338044C>T | CA387778026 | BRCA2 | c.3689C>T (p.Ser1230Phe) c.3320C>T (p.Ser1107Phe) n.3689C>T | ClinVar dbSNP |
13 | g.32338045T>A | CA483437719 | BRCA2 | c.3690T>A (p.Ser1230=) c.3321T>A (p.Ser1107=) n.3690T>A | dbSNP |
13 | g.32338045T>C | CA483437720 | BRCA2 | c.3690T>C (p.Ser1230=) c.3321T>C (p.Ser1107=) n.3690T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338045T>G | CA483437721 | BRCA2 | c.3690T>G (p.Ser1230=) c.3321T>G (p.Ser1107=) n.3690T>G | |
13 | g.32338045T= | CA2082819852 | BRCA2 | c.3690T= (p.Ser1230=) c.3321T= (p.Ser1107=) n.3690T= | |
13 | g.32338046A= | CA2082819860 | BRCA2 | c.3691A= (p.Thr1231=) c.3322A= (p.Thr1108=) n.3691A= | |
13 | g.32338046A>C | CA387778028 | BRCA2 | c.3691A>C (p.Thr1231Pro) c.3322A>C (p.Thr1108Pro) n.3691A>C | dbSNP |
13 | g.32338046A>G | CA387778029 | BRCA2 | c.3691A>G (p.Thr1231Ala) c.3322A>G (p.Thr1108Ala) n.3691A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338046A>T | CA387778030 | BRCA2 | c.3691A>T (p.Thr1231Ser) c.3322A>T (p.Thr1108Ser) n.3691A>T | ClinVar dbSNP |
13 | g.32338046_32338047del | CA2499222143 | BRCA2 | c.3691_3692del (p.Thr1231Ter) c.3322_3323del (p.Thr1108Ter) n.3691_3692del | |
13 | g.32338047C>A | CA387778031 | BRCA2 | c.3692C>A (p.Thr1231Asn) c.3323C>A (p.Thr1108Asn) n.3692C>A | dbSNP |
13 | g.32338047C>G | CA387778032 | BRCA2 | c.3692C>G (p.Thr1231Ser) c.3323C>G (p.Thr1108Ser) n.3692C>G | ClinVar dbSNP |
13 | g.32338047C>T | CA387778033 | BRCA2 | c.3692C>T (p.Thr1231Ile) c.3323C>T (p.Thr1108Ile) n.3692C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338048T>A | CA483437725 | BRCA2 | c.3693T>A (p.Thr1231=) c.3324T>A (p.Thr1108=) n.3693T>A | ClinVar |
13 | g.32338048T>C | CA348144 | BRCA2 | c.3693T>C (p.Thr1231=) c.3324T>C (p.Thr1108=) n.3693T>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32338048T>G | CA483437724 | BRCA2 | c.3693T>G (p.Thr1231=) c.3324T>G (p.Thr1108=) n.3693T>G | ClinVar |
13 | g.32338048T= | CA2082819869 | BRCA2 | c.3693T= (p.Thr1231=) c.3324T= (p.Thr1108=) n.3693T= | |
13 | g.32338049G>A | CA387778034 | BRCA2 | c.3694G>A (p.Glu1232Lys) c.3325G>A (p.Glu1109Lys) n.3694G>A | |
13 | g.32338049G>C | CA387778035 | BRCA2 | c.3694G>C (p.Glu1232Gln) c.3325G>C (p.Glu1109Gln) n.3694G>C | gnomAD v4 |
13 | g.32338049G>T | CA387778036 | BRCA2 | c.3694G>T (p.Glu1232Ter) c.3325G>T (p.Glu1109Ter) n.3694G>T | |
13 | g.32338049_32338050delinsGA | CA2082819883 | BRCA2 | c.3694_3695delinsGA (p.Glu1232=) c.3325_3326delinsGA (p.Glu1109=) n.3694_3695delinsGA | |
13 | g.32338050A= | CA2082819900 | BRCA2 | c.3695A= (p.Glu1232=) c.3326A= (p.Glu1109=) n.3695A= | |
13 | g.32338050A>C | CA387778038 | BRCA2 | c.3695A>C (p.Glu1232Ala) c.3326A>C (p.Glu1109Ala) n.3695A>C | |
13 | g.32338050A>G | CA6940717 | BRCA2 | c.3695A>G (p.Glu1232Gly) c.3326A>G (p.Glu1109Gly) n.3695A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338050A>T | CA387778037 | BRCA2 | c.3695A>T (p.Glu1232Val) c.3326A>T (p.Glu1109Val) n.3695A>T | dbSNP |
13 | g.32338051del | CA915948455 | BRCA2 | c.3696del (p.Ala1233LeufsTer6) c.3327del (p.Ala1110LeufsTer6) n.3696del | ClinVar dbSNP |
13 | g.32338051A= | CA2082819910 | BRCA2 | c.3696A= (p.Glu1232=) c.3327A= (p.Glu1109=) n.3696A= | |
13 | g.32338051A>C | CA387778040 | BRCA2 | c.3696A>C (p.Glu1232Asp) c.3327A>C (p.Glu1109Asp) n.3696A>C | |
13 | g.32338051A>G | CA483437726 | BRCA2 | c.3696A>G (p.Glu1232=) c.3327A>G (p.Glu1109=) n.3696A>G | ClinVar dbSNP |
13 | g.32338051A>T | CA387778039 | BRCA2 | c.3696A>T (p.Glu1232Asp) c.3327A>T (p.Glu1109Asp) n.3696A>T | dbSNP |
13 | g.32338052G>A | CA018594 | BRCA2 | c.3697G>A (p.Ala1233Thr) c.3328G>A (p.Ala1110Thr) n.3697G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338052G>C | CA387778041 | BRCA2 | c.3697G>C (p.Ala1233Pro) c.3328G>C (p.Ala1110Pro) n.3697G>C | dbSNP |
13 | g.32338052G= | CA2082819920 | BRCA2 | c.3697G= (p.Ala1233=) c.3328G= (p.Ala1110=) n.3697G= | |
13 | g.32338052G>T | CA387778042 | BRCA2 | c.3697G>T (p.Ala1233Ser) c.3328G>T (p.Ala1110Ser) n.3697G>T | dbSNP gnomAD v4 |
13 | g.32338053C>A | CA387778043 | BRCA2 | c.3698C>A (p.Ala1233Asp) c.3329C>A (p.Ala1110Asp) n.3698C>A | dbSNP |
13 | g.32338053C= | CA2082819925 | BRCA2 | c.3698C= (p.Ala1233=) c.3329C= (p.Ala1110=) n.3698C= | |
13 | g.32338053C>G | CA387778044 | BRCA2 | c.3698C>G (p.Ala1233Gly) c.3329C>G (p.Ala1110Gly) n.3698C>G | dbSNP |
13 | g.32338053C>T | CA6940718 | BRCA2 | c.3698C>T (p.Ala1233Val) c.3329C>T (p.Ala1110Val) n.3698C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338055_32338056del | CA2580614656 | BRCA2 | c.3700_3701del (p.Leu1234AlafsTer8) c.3331_3332del (p.Leu1111AlafsTer8) n.3700_3701del | ClinVar |
13 | g.32338054T>A | CA483437729 | BRCA2 | c.3699T>A (p.Ala1233=) c.3330T>A (p.Ala1110=) n.3699T>A | dbSNP |
13 | g.32338054T>C | CA483437727 | BRCA2 | c.3699T>C (p.Ala1233=) c.3330T>C (p.Ala1110=) n.3699T>C | |
13 | g.32338054T>G | CA483437728 | BRCA2 | c.3699T>G (p.Ala1233=) c.3330T>G (p.Ala1110=) n.3699T>G | |
13 | g.32338055C>A | CA018608 | BRCA2 | c.3700C>A (p.Leu1234Met) c.3331C>A (p.Leu1111Met) n.3700C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338055C= | CA2082819938 | BRCA2 | c.3700C= (p.Leu1234=) c.3331C= (p.Leu1111=) n.3700C= | |
13 | g.32338055C>G | CA387778045 | BRCA2 | c.3700C>G (p.Leu1234Val) c.3331C>G (p.Leu1111Val) n.3700C>G | dbSNP |
13 | g.32338055C>T | CA483437730 | BRCA2 | c.3700C>T (p.Leu1234=) c.3331C>T (p.Leu1111=) n.3700C>T | dbSNP gnomAD v4 |
13 | g.32338056T>A | CA387778046 | BRCA2 | c.3701T>A (p.Leu1234Gln) c.3332T>A (p.Leu1111Gln) n.3701T>A | dbSNP |
13 | g.32338056T>C | CA387778047 | BRCA2 | c.3701T>C (p.Leu1234Pro) c.3332T>C (p.Leu1111Pro) n.3701T>C | dbSNP |
13 | g.32338056T>G | CA387778048 | BRCA2 | c.3701T>G (p.Leu1234Arg) c.3332T>G (p.Leu1111Arg) n.3701T>G | gnomAD v4 |
13 | g.32338057G>A | CA483437731 | BRCA2 | c.3702G>A (p.Leu1234=) c.3333G>A (p.Leu1111=) n.3702G>A | dbSNP |
13 | g.32338057G>C | CA483437732 | BRCA2 | c.3702G>C (p.Leu1234=) c.3333G>C (p.Leu1111=) n.3702G>C | dbSNP |
13 | g.32338057G>T | CA483437733 | BRCA2 | c.3702G>T (p.Leu1234=) c.3333G>T (p.Leu1111=) n.3702G>T | dbSNP |
13 | g.32338058C>A | CA387778049 | BRCA2 | c.3703C>A (p.Gln1235Lys) c.3334C>A (p.Gln1112Lys) n.3703C>A | |
13 | g.32338058C= | CA2082819956 | BRCA2 | c.3703C= (p.Gln1235=) c.3334C= (p.Gln1112=) n.3703C= | |
13 | g.32338058C>G | CA387778050 | BRCA2 | c.3703C>G (p.Gln1235Glu) c.3334C>G (p.Gln1112Glu) n.3703C>G | |
13 | g.32338058C>T | CA387778051 | BRCA2 | c.3703C>T (p.Gln1235Ter) c.3334C>T (p.Gln1112Ter) n.3703C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338058_32338059delinsCA | CA2082819951 | BRCA2 | c.3703_3704delinsCA (p.Gln1235=) c.3334_3335delinsCA (p.Gln1112=) n.3703_3704delinsCA | |
13 | g.32338059A= | CA2082819965 | BRCA2 | c.3704A= (p.Gln1235=) c.3335A= (p.Gln1112=) n.3704A= | |
13 | g.32338059A>C | CA387778053 | BRCA2 | c.3704A>C (p.Gln1235Pro) c.3335A>C (p.Gln1112Pro) n.3704A>C | ClinVar |
13 | g.32338059A>G | CA16614294 | BRCA2 | c.3704A>G (p.Gln1235Arg) c.3335A>G (p.Gln1112Arg) n.3704A>G | ClinVar dbSNP |
13 | g.32338059A>T | CA387778052 | BRCA2 | c.3704A>T (p.Gln1235Leu) c.3335A>T (p.Gln1112Leu) n.3704A>T | dbSNP |
13 | g.32338063dup | CA018613 | BRCA2 | c.3708dup (p.Ala1237SerfsTer6) c.3339dup (p.Ala1114SerfsTer6) n.3708dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338063del | CA247505648 | BRCA2 | c.3708del (p.Ala1237LeufsTer2) c.3339del (p.Ala1114LeufsTer2) n.3708del | ClinVar dbSNP |
13 | g.32338060A>C | CA387778054 | BRCA2 | c.3705A>C (p.Gln1235His) c.3336A>C (p.Gln1112His) n.3705A>C | dbSNP |
13 | g.32338060A>G | CA483437734 | BRCA2 | c.3705A>G (p.Gln1235=) c.3336A>G (p.Gln1112=) n.3705A>G | ClinVar dbSNP COSMIC COSMIC |
13 | g.32338060A>T | CA387778055 | BRCA2 | c.3705A>T (p.Gln1235His) c.3336A>T (p.Gln1112His) n.3705A>T | dbSNP |
13 | g.32338061A= | CA2082819975 | BRCA2 | c.3706A= (p.Lys1236=) c.3337A= (p.Lys1113=) n.3706A= | |
13 | g.32338061A>C | CA387778056 | BRCA2 | c.3706A>C (p.Lys1236Gln) c.3337A>C (p.Lys1113Gln) n.3706A>C | ClinVar dbSNP |
13 | g.32338061A>G | CA387778057 | BRCA2 | c.3706A>G (p.Lys1236Glu) c.3337A>G (p.Lys1113Glu) n.3706A>G | ClinVar dbSNP |
13 | g.32338061A>T | CA387778058 | BRCA2 | c.3706A>T (p.Lys1236Ter) c.3337A>T (p.Lys1113Ter) n.3706A>T | |
13 | g.32338062A>C | CA387778059 | BRCA2 | c.3707A>C (p.Lys1236Thr) c.3338A>C (p.Lys1113Thr) n.3707A>C | |
13 | g.32338062A>G | CA387778060 | BRCA2 | c.3707A>G (p.Lys1236Arg) c.3338A>G (p.Lys1113Arg) n.3707A>G | dbSNP |
13 | g.32338062A>T | CA387778061 | BRCA2 | c.3707A>T (p.Lys1236Ile) c.3338A>T (p.Lys1113Ile) n.3707A>T | |
13 | g.32338063A= | CA2082819983 | BRCA2 | c.3708A= (p.Lys1236=) c.3339A= (p.Lys1113=) n.3708A= | |
13 | g.32338063A>C | CA387778062 | BRCA2 | c.3708A>C (p.Lys1236Asn) c.3339A>C (p.Lys1113Asn) n.3708A>C | |
13 | g.32338063A>G | CA483437737 | BRCA2 | c.3708A>G (p.Lys1236=) c.3339A>G (p.Lys1113=) n.3708A>G | ClinVar dbSNP |
13 | g.32338063A>T | CA387778063 | BRCA2 | c.3708A>T (p.Lys1236Asn) c.3339A>T (p.Lys1113Asn) n.3708A>T | ClinVar dbSNP |
13 | g.32338064G>A | CA387778065 | BRCA2 | c.3709G>A (p.Ala1237Thr) c.3340G>A (p.Ala1114Thr) n.3709G>A | ClinVar dbSNP |
13 | g.32338064G>C | CA018619 | BRCA2 | c.3709G>C (p.Ala1237Pro) c.3340G>C (p.Ala1114Pro) n.3709G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338064G= | CA2082819986 | BRCA2 | c.3709G= (p.Ala1237=) c.3340G= (p.Ala1114=) n.3709G= | |
13 | g.32338064G>T | CA387778064 | BRCA2 | c.3709G>T (p.Ala1237Ser) c.3340G>T (p.Ala1114Ser) n.3709G>T | dbSNP |
13 | g.32338064_32338065delinsGC | CA2082819990 | BRCA2 | c.3709_3710delinsGC (p.Ala1237=) c.3340_3341delinsGC (p.Ala1114=) n.3709_3710delinsGC | |
13 | g.32338065del | CA658653655 | BRCA2 | c.3710del (p.Ala1237ValfsTer2) c.3341del (p.Ala1114ValfsTer2) n.3710del | ClinVar dbSNP |
13 | g.32338065C>A | CA387778066 | BRCA2 | c.3710C>A (p.Ala1237Asp) c.3341C>A (p.Ala1114Asp) n.3710C>A | dbSNP |
13 | g.32338065C>G | CA387778067 | BRCA2 | c.3710C>G (p.Ala1237Gly) c.3341C>G (p.Ala1114Gly) n.3710C>G | dbSNP |
13 | g.32338065C>T | CA387778068 | BRCA2 | c.3710C>T (p.Ala1237Val) c.3341C>T (p.Ala1114Val) n.3710C>T | ClinVar dbSNP |
13 | g.32338066T>A | CA483437739 | BRCA2 | c.3711T>A (p.Ala1237=) c.3342T>A (p.Ala1114=) n.3711T>A | dbSNP |
13 | g.32338066T>C | CA018638 | BRCA2 | c.3711T>C (p.Ala1237=) c.3342T>C (p.Ala1114=) n.3711T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338066T>G | CA483437740 | BRCA2 | c.3711T>G (p.Ala1237=) c.3342T>G (p.Ala1114=) n.3711T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338066T= | CA2082820004 | BRCA2 | c.3711T= (p.Ala1237=) c.3342T= (p.Ala1114=) n.3711T= | |
13 | g.32338067G>A | CA16619699 | BRCA2 | c.3712G>A (p.Val1238Met) c.3343G>A (p.Val1115Met) n.3712G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338067G>C | CA387778069 | BRCA2 | c.3712G>C (p.Val1238Leu) c.3343G>C (p.Val1115Leu) n.3712G>C | dbSNP |
13 | g.32338067G= | CA2082820015 | BRCA2 | c.3712G= (p.Val1238=) c.3343G= (p.Val1115=) n.3712G= | |
13 | g.32338067G>T | CA387778070 | BRCA2 | c.3712G>T (p.Val1238Leu) c.3343G>T (p.Val1115Leu) n.3712G>T | |
13 | g.32338068T>A | CA387778071 | BRCA2 | c.3713T>A (p.Val1238Glu) c.3344T>A (p.Val1115Glu) n.3713T>A | dbSNP |
13 | g.32338068T>C | CA387778073 | BRCA2 | c.3713T>C (p.Val1238Ala) c.3344T>C (p.Val1115Ala) n.3713T>C | ClinVar dbSNP |
13 | g.32338068T>G | CA387778072 | BRCA2 | c.3713T>G (p.Val1238Gly) c.3344T>G (p.Val1115Gly) n.3713T>G | dbSNP gnomAD v4 |
13 | g.32338068T= | CA2082820018 | BRCA2 | c.3713T= (p.Val1238=) c.3344T= (p.Val1115=) n.3713T= | |
13 | g.32338069G>A | CA6940719 | BRCA2 | c.3714G>A (p.Val1238=) c.3345G>A (p.Val1115=) n.3714G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338069G>C | CA483437742 | BRCA2 | c.3714G>C (p.Val1238=) c.3345G>C (p.Val1115=) n.3714G>C | dbSNP |
13 | g.32338069G= | CA2082820030 | BRCA2 | c.3714G= (p.Val1238=) c.3345G= (p.Val1115=) n.3714G= | |
13 | g.32338069G>T | CA483437743 | BRCA2 | c.3714G>T (p.Val1238=) c.3345G>T (p.Val1115=) n.3714G>T | |
13 | g.32338069_32338070delinsGA | CA2082820028 | BRCA2 | c.3714_3715delinsGA (p.Val1238=) c.3345_3346delinsGA (p.Val1115=) n.3714_3715delinsGA | |
13 | g.32338070A= | CA2082820044 | BRCA2 | c.3715A= (p.Lys1239=) c.3346A= (p.Lys1116=) n.3715A= | |
13 | g.32338070A>C | CA387778074 | BRCA2 | c.3715A>C (p.Lys1239Gln) c.3346A>C (p.Lys1116Gln) n.3715A>C | |
13 | g.32338070A>G | CA018644 | BRCA2 | c.3715A>G (p.Lys1239Glu) c.3346A>G (p.Lys1116Glu) n.3715A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338070A>T | CA387778075 | BRCA2 | c.3715A>T (p.Lys1239Ter) c.3346A>T (p.Lys1116Ter) n.3715A>T | ClinVar dbSNP |
13 | g.32338072dup | CA2695218192 | BRCA2 | c.3717dup (p.Leu1240ThrfsTer3) c.3348dup (p.Leu1117ThrfsTer3) n.3717dup | |
13 | g.32338072del | CA018654 | BRCA2 | c.3717del (p.Lys1239AsnfsTer20) c.3348del (p.Lys1116AsnfsTer20) n.3717del | ClinVar dbSNP gnomAD v4 |
13 | g.32338071_32338072del | CA2499222144 | BRCA2 | c.3716_3717del (p.Lys1239ThrfsTer3) c.3347_3348del (p.Lys1116ThrfsTer3) n.3716_3717del | ClinVar dbSNP |
13 | g.32338071A>C | CA387778076 | BRCA2 | c.3716A>C (p.Lys1239Thr) c.3347A>C (p.Lys1116Thr) n.3716A>C | dbSNP |
13 | g.32338071A>G | CA387778078 | BRCA2 | c.3716A>G (p.Lys1239Arg) c.3347A>G (p.Lys1116Arg) n.3716A>G | dbSNP |
13 | g.32338071A>T | CA387778077 | BRCA2 | c.3716A>T (p.Lys1239Ile) c.3347A>T (p.Lys1116Ile) n.3716A>T | dbSNP gnomAD v4 |
13 | g.32338072A= | CA2082820053 | BRCA2 | c.3717A= (p.Lys1239=) c.3348A= (p.Lys1116=) n.3717A= | |
13 | g.32338072A>C | CA018650 | BRCA2 | c.3717A>C (p.Lys1239Asn) c.3348A>C (p.Lys1116Asn) n.3717A>C | ClinVar dbSNP |
13 | g.32338072A>G | CA6940720 | BRCA2 | c.3717A>G (p.Lys1239=) c.3348A>G (p.Lys1116=) n.3717A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338072A>T | CA387778079 | BRCA2 | c.3717A>T (p.Lys1239Asn) c.3348A>T (p.Lys1116Asn) n.3717A>T | dbSNP |
13 | g.32338073C>A | CA387778080 | BRCA2 | c.3718C>A (p.Leu1240Met) c.3349C>A (p.Leu1117Met) n.3718C>A | ClinVar dbSNP |
13 | g.32338073C>G | CA387778081 | BRCA2 | c.3718C>G (p.Leu1240Val) c.3349C>G (p.Leu1117Val) n.3718C>G | ClinVar dbSNP |
13 | g.32338073C>T | CA483437747 | BRCA2 | c.3718C>T (p.Leu1240=) c.3349C>T (p.Leu1117=) n.3718C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338073_32338075delinsCTG | CA2082820065 | BRCA2 | c.3718_3720delinsCTG (p.Leu1240=) c.3349_3351delinsCTG (p.Leu1117=) n.3718_3720delinsCTG | |
13 | g.32338073_32338077delinsCTGTT | CA2082820064 | BRCA2 | c.3718_3722delinsCTGTT (p.Leu1240=) c.3349_3353delinsCTGTT (p.Leu1117=) n.3718_3722delinsCTGTT | |
13 | g.32338074T>A | CA387778082 | BRCA2 | c.3719T>A (p.Leu1240Gln) c.3350T>A (p.Leu1117Gln) n.3719T>A | dbSNP |
13 | g.32338074T>C | CA387778083 | BRCA2 | c.3719T>C (p.Leu1240Pro) c.3350T>C (p.Leu1117Pro) n.3719T>C | ClinVar dbSNP |
13 | g.32338074T>G | CA387778084 | BRCA2 | c.3719T>G (p.Leu1240Arg) c.3350T>G (p.Leu1117Arg) n.3719T>G | |
13 | g.32338074T= | CA2082820097 | BRCA2 | c.3719T= (p.Leu1240=) c.3350T= (p.Leu1117=) n.3719T= | |
13 | g.32338074dup | CA2573149331 | BRCA2 | c.3719dup (p.Phe1241ValfsTer2) c.3350dup (p.Phe1118ValfsTer2) n.3719dup | ClinVar dbSNP |
13 | g.32338074_32338075delinsAC | CA915948456 | BRCA2 | c.3719_3720delinsAC (p.Leu1240His) c.3350_3351delinsAC (p.Leu1117His) n.3719_3720delinsAC | ClinVar dbSNP |
13 | g.32338074_32338075delinsTG | CA2082820080 | BRCA2 | c.3719_3720delinsTG (p.Leu1240=) c.3350_3351delinsTG (p.Leu1117=) n.3719_3720delinsTG | |
13 | g.32338075_32338076del | CA645509344 | BRCA2 | c.3720_3721del (p.Phe1241Ter) c.3351_3352del (p.Phe1118Ter) n.3720_3721del | ClinVar dbSNP |
13 | g.32338075_32338078del | CA10586514 | BRCA2 | c.3720_3723del (p.Phe1241ValfsTer17) c.3351_3354del (p.Phe1118ValfsTer17) n.3720_3723del | ClinVar dbSNP gnomAD v4 |
13 | g.32338075G>A | CA6940721 | BRCA2 | c.3720G>A (p.Leu1240=) c.3351G>A (p.Leu1117=) n.3720G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338075G>C | CA483437748 | BRCA2 | c.3720G>C (p.Leu1240=) c.3351G>C (p.Leu1117=) n.3720G>C | |
13 | g.32338075G= | CA2082820116 | BRCA2 | c.3720G= (p.Leu1240=) c.3351G= (p.Leu1117=) n.3720G= | |
13 | g.32338075G>T | CA483437750 | BRCA2 | c.3720G>T (p.Leu1240=) c.3351G>T (p.Leu1117=) n.3720G>T | |
13 | g.32338075_32338076delinsGT | CA2082820118 | BRCA2 | c.3720_3721delinsGT (p.Leu1240=) c.3351_3352delinsGT (p.Leu1117=) n.3720_3721delinsGT | |
13 | g.32338075_32338076insAGA | CA2622600769 | BRCA2 | c.3720_3721insAGA (p.Leu1240_Phe1241insArg) c.3351_3352insAGA (p.Leu1117_Phe1118insArg) n.3720_3721insAGA | gnomAD v4 |
13 | g.32338076T>A | CA387778086 | BRCA2 | c.3721T>A (p.Phe1241Ile) c.3352T>A (p.Phe1118Ile) n.3721T>A | dbSNP |
13 | g.32338076T>C | CA387778085 | BRCA2 | c.3721T>C (p.Phe1241Leu) c.3352T>C (p.Phe1118Leu) n.3721T>C | ClinVar dbSNP |
13 | g.32338076T>G | CA387778087 | BRCA2 | c.3721T>G (p.Phe1241Val) c.3352T>G (p.Phe1118Val) n.3721T>G | ClinVar |
13 | g.32338078del | CA10589217 | BRCA2 | c.3723del (p.Phe1241LeufsTer18) c.3354del (p.Phe1118LeufsTer18) n.3723del | ClinVar dbSNP |