Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32370402_32370557del | CA2580087346 | BRCA2 | c.8332_8487del c.7963_8118del c.799_954del c.8340_8495del c.897_1052del c.8236_8391del | ClinVar |
13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
13 | g.32370401_32370455dup | CA2727916131 | BRCA2 | c.8332-1_8385dup c.7963-1_8016dup c.799-1_852dup c.8340-1_8393dup c.897-1_950dup c.8236-1_8289dup | dbSNP |
13 | g.32370401_32370703dup | CA2499222326 | BRCA2 | c.8332-1_8487+146dup c.7963-1_8118+146dup c.799-1_954+146dup c.8340-1_8495+146dup c.897-1_1052+146dup c.8236-1_8391+146dup | ClinVar |
13 | g.32370413_32370421delinsCAGTACTCG | CA2082813052 | BRCA2 | c.8343_8351delinsCAGTACTCG (p.Asn2781=) c.7974_7982delinsCAGTACTCG (p.Asn2658=) c.810_818delinsCAGTACTCG (p.Asn270=) c.8351_8359delinsCAGTACTCG (n.8351_8359delinsCAGTACTCG) c.908_916delinsCAGTACTCG c.8247_8255delinsCAGTACTCG (p.Asn2749=) | |
13 | g.32370414_32370421delinsCA | CA16619779 | BRCA2 | c.8344_8351delinsCA (p.Ser2782_Arg2784delinsGln) c.7975_7982delinsCA (p.Ser2659_Arg2661delinsGln) c.811_818delinsCA (p.Ser271_Arg273delinsGln) c.8352_8359delinsCA (n.8352_8359delinsCA) c.909_916delinsCA c.8248_8255delinsCA (p.Ser2750_Arg2752delinsGln) | ClinVar dbSNP |
13 | g.32370419_32370420delinsTC | CA2082813137 | BRCA2 | c.8349_8350delinsTC (p.Thr2783=) c.7980_7981delinsTC (p.Thr2660=) c.816_817delinsTC (p.Thr272=) c.8357_8358delinsTC (n.8357_8358delinsTC) c.914_915delinsTC c.8253_8254delinsTC (p.Thr2751=) | |
13 | g.32370420del | CA913188593 | BRCA2 | c.8350del (p.Arg2784GlyfsTer?) c.7981del (p.Arg2661GlyfsTer?) c.817del (p.Arg273GlyfsTer?) c.8358del (n.8358del) c.915del c.8254del (p.Arg2752GlyfsTer?) | ClinVar dbSNP |
13 | g.32370420C>A | CA483261174 | BRCA2 | c.8350C>A (p.Arg2784=) c.7981C>A (p.Arg2661=) c.817C>A (p.Arg273=) c.8358C>A (n.8358C>A) c.915C>A c.8254C>A (p.Arg2752=) | ClinVar dbSNP |
13 | g.32370420C= | CA2082813152 | BRCA2 | c.8350C= (p.Arg2784=) c.7981C= (p.Arg2661=) c.817C= (p.Arg273=) c.8358C= (n.8358C=) c.915C= c.8254C= (p.Arg2752=) | |
13 | g.32370420C>G | CA387752384 | BRCA2 | c.8350C>G (p.Arg2784Gly) c.7981C>G (p.Arg2661Gly) c.817C>G (p.Arg273Gly) c.8358C>G (n.8358C>G) c.915C>G c.8254C>G (p.Arg2752Gly) | dbSNP |
13 | g.32370420C>T | CA025593 | BRCA2 | c.8350C>T (p.Arg2784Trp) c.7981C>T (p.Arg2661Trp) c.817C>T (p.Arg273Trp) c.8358C>T (n.8358C>T) c.915C>T c.8254C>T (p.Arg2752Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32370421G>A | CA025594 | BRCA2 | c.8351G>A (p.Arg2784Gln) c.7982G>A (p.Arg2661Gln) c.818G>A (p.Arg273Gln) c.8359G>A (n.8359G>A) c.916G>A c.8255G>A (p.Arg2752Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370421G>C | CA387752387 | BRCA2 | c.8351G>C (p.Arg2784Pro) c.7982G>C (p.Arg2661Pro) c.818G>C (p.Arg273Pro) c.8359G>C (n.8359G>C) c.916G>C c.8255G>C (p.Arg2752Pro) | dbSNP |
13 | g.32370421G= | CA2082813166 | BRCA2 | c.8351G= (p.Arg2784=) c.7982G= (p.Arg2661=) c.818G= (p.Arg273=) c.8359G= (n.8359G=) c.916G= c.8255G= (p.Arg2752=) | |
13 | g.32370421G>T | CA387752389 | BRCA2 | c.8351G>T (p.Arg2784Leu) c.7982G>T (p.Arg2661Leu) c.818G>T (p.Arg273Leu) c.8359G>T (n.8359G>T) c.916G>T c.8255G>T (p.Arg2752Leu) | ClinVar dbSNP |
13 | g.32370422del | CA2695217914 | BRCA2 | c.8352del (p.Pro2785LeufsTer?) c.7983del (p.Pro2662LeufsTer?) c.819del (p.Pro274LeufsTer?) c.8360del (n.8360del) c.917del c.8256del (p.Pro2753LeufsTer?) | |
13 | g.32370422G>A | CA025595 | BRCA2 | c.8352G>A (p.Arg2784=) c.7983G>A (p.Arg2661=) c.819G>A (p.Arg273=) c.8360G>A (n.8360G>A) c.917G>A c.8256G>A (p.Arg2752=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370422G>C | CA483261175 | BRCA2 | c.8352G>C (p.Arg2784=) c.7983G>C (p.Arg2661=) c.819G>C (p.Arg273=) c.8360G>C (n.8360G>C) c.917G>C c.8256G>C (p.Arg2752=) | dbSNP |
13 | g.32370422G= | CA2082813175 | BRCA2 | c.8352G= (p.Arg2784=) c.7983G= (p.Arg2661=) c.819G= (p.Arg273=) c.8360G= (n.8360G=) c.917G= c.8256G= (p.Arg2752=) | |
13 | g.32370422G>T | CA10579780 | BRCA2 | c.8352G>T (p.Arg2784=) c.7983G>T (p.Arg2661=) c.819G>T (p.Arg273=) c.8360G>T (n.8360G>T) c.917G>T c.8256G>T (p.Arg2752=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370423C>A | CA025596 | BRCA2 | c.8353C>A (p.Pro2785Thr) c.7984C>A (p.Pro2662Thr) c.820C>A (p.Pro274Thr) c.8361C>A (n.8361C>A) c.918C>A c.8257C>A (p.Pro2753Thr) | ClinVar dbSNP |
13 | g.32370423C= | CA2082813185 | BRCA2 | c.8353C= (p.Pro2785=) c.7984C= (p.Pro2662=) c.820C= (p.Pro274=) c.8361C= (n.8361C=) c.918C= c.8257C= (p.Pro2753=) | |
13 | g.32370423C>G | CA387752393 | BRCA2 | c.8353C>G (p.Pro2785Ala) c.7984C>G (p.Pro2662Ala) c.820C>G (p.Pro274Ala) c.8361C>G (n.8361C>G) c.918C>G c.8257C>G (p.Pro2753Ala) | ClinVar dbSNP |
13 | g.32370423C>T | CA387752394 | BRCA2 | c.8353C>T (p.Pro2785Ser) c.7984C>T (p.Pro2662Ser) c.820C>T (p.Pro274Ser) c.8361C>T (n.8361C>T) c.918C>T c.8257C>T (p.Pro2753Ser) | dbSNP |
13 | g.32370424C>A | CA387752396 | BRCA2 | c.8354C>A (p.Pro2785His) c.7985C>A (p.Pro2662His) c.821C>A (p.Pro274His) c.8362C>A (n.8362C>A) c.919C>A c.8258C>A (p.Pro2753His) | dbSNP |
13 | g.32370424C= | CA2082813193 | BRCA2 | c.8354C= (p.Pro2785=) c.7985C= (p.Pro2662=) c.821C= (p.Pro274=) c.8362C= (n.8362C=) c.919C= c.8258C= (p.Pro2753=) | |
13 | g.32370424C>G | CA387752397 | BRCA2 | c.8354C>G (p.Pro2785Arg) c.7985C>G (p.Pro2662Arg) c.821C>G (p.Pro274Arg) c.8362C>G (n.8362C>G) c.919C>G c.8258C>G (p.Pro2753Arg) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370424C>T | CA025597 | BRCA2 | c.8354C>T (p.Pro2785Leu) c.7985C>T (p.Pro2662Leu) c.821C>T (p.Pro274Leu) c.8362C>T (n.8362C>T) c.919C>T c.8258C>T (p.Pro2753Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370425T>A | CA483261176 | BRCA2 | c.8355T>A (p.Pro2785=) c.7986T>A (p.Pro2662=) c.822T>A (p.Pro274=) c.8363T>A (n.8363T>A) c.920T>A c.8259T>A (p.Pro2753=) | |
13 | g.32370425T>C | CA16606823 | BRCA2 | c.8355T>C (p.Pro2785=) c.7986T>C (p.Pro2662=) c.822T>C (p.Pro274=) c.8363T>C (n.8363T>C) c.920T>C c.8259T>C (p.Pro2753=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370425T>G | CA483261177 | BRCA2 | c.8355T>G (p.Pro2785=) c.7986T>G (p.Pro2662=) c.822T>G (p.Pro274=) c.8363T>G (n.8363T>G) c.920T>G c.8259T>G (p.Pro2753=) | |
13 | g.32370425T= | CA2082813197 | BRCA2 | c.8355T= (p.Pro2785=) c.7986T= (p.Pro2662=) c.822T= (p.Pro274=) c.8363T= (n.8363T=) c.920T= c.8259T= (p.Pro2753=) | |
13 | g.32370425_32370426delinsTG | CA2082813200 | BRCA2 | c.8355_8356delinsTG (p.Pro2785=) c.7986_7987delinsTG (p.Pro2662=) c.822_823delinsTG (p.Pro274=) c.8363_8364delinsTG (n.8363_8364delinsTG) c.920_921delinsTG c.8259_8260delinsTG (p.Pro2753=) | |
13 | g.32370426del | CA10579781 | BRCA2 | c.8356del (p.Ala2786LeufsTer?) c.7987del (p.Ala2663LeufsTer?) c.823del (p.Ala275LeufsTer?) c.8364del (n.8364del) c.921del c.8260del (p.Ala2754LeufsTer?) | ClinVar dbSNP |
13 | g.32370426G>A | CA025598 | BRCA2 | c.8356G>A (p.Ala2786Thr) c.7987G>A (p.Ala2663Thr) c.823G>A (p.Ala275Thr) c.8364G>A (n.8364G>A) c.921G>A c.8260G>A (p.Ala2754Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370426G>C | CA025599 | BRCA2 | c.8356G>C (p.Ala2786Pro) c.7987G>C (p.Ala2663Pro) c.823G>C (p.Ala275Pro) c.8364G>C (n.8364G>C) c.921G>C c.8260G>C (p.Ala2754Pro) | ClinVar dbSNP |
13 | g.32370426G= | CA2082813215 | BRCA2 | c.8356G= (p.Ala2786=) c.7987G= (p.Ala2663=) c.823G= (p.Ala275=) c.8364G= (n.8364G=) c.921G= c.8260G= (p.Ala2754=) | |
13 | g.32370426G>T | CA387752400 | BRCA2 | c.8356G>T (p.Ala2786Ser) c.7987G>T (p.Ala2663Ser) c.823G>T (p.Ala275Ser) c.8364G>T (n.8364G>T) c.921G>T c.8260G>T (p.Ala2754Ser) | |
13 | g.32370427C>A | CA387752403 | BRCA2 | c.8357C>A (p.Ala2786Asp) c.7988C>A (p.Ala2663Asp) c.824C>A (p.Ala275Asp) c.8365C>A (n.8365C>A) c.922C>A c.8261C>A (p.Ala2754Asp) | ClinVar |
13 | g.32370427C>G | CA387752405 | BRCA2 | c.8357C>G (p.Ala2786Gly) c.7988C>G (p.Ala2663Gly) c.824C>G (p.Ala275Gly) c.8365C>G (n.8365C>G) c.922C>G c.8261C>G (p.Ala2754Gly) | dbSNP |
13 | g.32370427C>T | CA387752406 | BRCA2 | c.8357C>T (p.Ala2786Val) c.7988C>T (p.Ala2663Val) c.824C>T (p.Ala275Val) c.8365C>T (n.8365C>T) c.922C>T c.8261C>T (p.Ala2754Val) | dbSNP |
13 | g.32370428T>A | CA483261178 | BRCA2 | c.8358T>A (p.Ala2786=) c.7989T>A (p.Ala2663=) c.825T>A (p.Ala275=) c.8366T>A (n.8366T>A) c.923T>A c.8262T>A (p.Ala2754=) | dbSNP |
13 | g.32370428T>C | CA483261179 | BRCA2 | c.8358T>C (p.Ala2786=) c.7989T>C (p.Ala2663=) c.825T>C (p.Ala275=) c.8366T>C (n.8366T>C) c.923T>C c.8262T>C (p.Ala2754=) | |
13 | g.32370428T>G | CA483261180 | BRCA2 | c.8358T>G (p.Ala2786=) c.7989T>G (p.Ala2663=) c.825T>G (p.Ala275=) c.8366T>G (n.8366T>G) c.923T>G c.8262T>G (p.Ala2754=) | |
13 | g.32370429C>A | CA387752408 | BRCA2 | c.8359C>A (p.Arg2787Ser) c.7990C>A (p.Arg2664Ser) c.826C>A (p.Arg276Ser) c.8367C>A (n.8367C>A) c.924C>A c.8263C>A (p.Arg2755Ser) | dbSNP |
13 | g.32370429C= | CA2082813230 | BRCA2 | c.8359C= (p.Arg2787=) c.7990C= (p.Arg2664=) c.826C= (p.Arg276=) c.8367C= (n.8367C=) c.924C= c.8263C= (p.Arg2755=) | |
13 | g.32370429C>G | CA387752410 | BRCA2 | c.8359C>G (p.Arg2787Gly) c.7990C>G (p.Arg2664Gly) c.826C>G (p.Arg276Gly) c.8367C>G (n.8367C>G) c.924C>G c.8263C>G (p.Arg2755Gly) | dbSNP |
13 | g.32370429C>T | CA025600 | BRCA2 | c.8359C>T (p.Arg2787Cys) c.7990C>T (p.Arg2664Cys) c.826C>T (p.Arg276Cys) c.8367C>T (n.8367C>T) c.924C>T c.8263C>T (p.Arg2755Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370430G>A | CA025601 | BRCA2 | c.8360G>A (p.Arg2787His) c.7991G>A (p.Arg2664His) c.827G>A (p.Arg276His) c.8368G>A (n.8368G>A) c.925G>A c.8264G>A (p.Arg2755His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32370430G>C | CA387752412 | BRCA2 | c.8360G>C (p.Arg2787Pro) c.7991G>C (p.Arg2664Pro) c.827G>C (p.Arg276Pro) c.8368G>C (n.8368G>C) c.925G>C c.8264G>C (p.Arg2755Pro) | ClinVar dbSNP |
13 | g.32370430G= | CA2082813241 | BRCA2 | c.8360G= (p.Arg2787=) c.7991G= (p.Arg2664=) c.827G= (p.Arg276=) c.8368G= (n.8368G=) c.925G= c.8264G= (p.Arg2755=) | |
13 | g.32370430G>T | CA387752414 | BRCA2 | c.8360G>T (p.Arg2787Leu) c.7991G>T (p.Arg2664Leu) c.827G>T (p.Arg276Leu) c.8368G>T (n.8368G>T) c.925G>T c.8264G>T (p.Arg2755Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32370431C>A | CA483261181 | BRCA2 | c.8361C>A (p.Arg2787=) c.7992C>A (p.Arg2664=) c.828C>A (p.Arg276=) c.8369C>A (n.8369C>A) c.926C>A c.8265C>A (p.Arg2755=) | dbSNP |
13 | g.32370431C= | CA2082813254 | BRCA2 | c.8361C= (p.Arg2787=) c.7992C= (p.Arg2664=) c.828C= (p.Arg276=) c.8369C= (n.8369C=) c.926C= c.8265C= (p.Arg2755=) | |
13 | g.32370431C>G | CA483261182 | BRCA2 | c.8361C>G (p.Arg2787=) c.7992C>G (p.Arg2664=) c.828C>G (p.Arg276=) c.8369C>G (n.8369C>G) c.926C>G c.8265C>G (p.Arg2755=) | ClinVar dbSNP |
13 | g.32370431C>T | CA483261183 | BRCA2 | c.8361C>T (p.Arg2787=) c.7992C>T (p.Arg2664=) c.828C>T (p.Arg276=) c.8369C>T (n.8369C>T) c.926C>T c.8265C>T (p.Arg2755=) | dbSNP |
13 | g.32370431_32370433delinsCTG | CA2082813251 | BRCA2 | c.8361_8363delinsCTG (p.Arg2787=) c.7992_7994delinsCTG (p.Arg2664=) c.828_830delinsCTG (p.Arg276=) c.8369_8371delinsCTG (n.8369_8371delinsCTG) c.926_928delinsCTG c.8265_8267delinsCTG (p.Arg2755=) | |
13 | g.32370432T>A | CA387752416 | BRCA2 | c.8362T>A (p.Trp2788Arg) c.7993T>A (p.Trp2665Arg) c.829T>A (p.Trp277Arg) c.8370T>A (n.8370T>A) c.927T>A c.8266T>A (p.Trp2756Arg) | |
13 | g.32370432T>C | CA025602 | BRCA2 | c.8362T>C (p.Trp2788Arg) c.7993T>C (p.Trp2665Arg) c.829T>C (p.Trp277Arg) c.8370T>C (n.8370T>C) c.927T>C c.8266T>C (p.Trp2756Arg) | ClinVar dbSNP |
13 | g.32370432T>G | CA6941222 | BRCA2 | c.8362T>G (p.Trp2788Gly) c.7993T>G (p.Trp2665Gly) c.829T>G (p.Trp277Gly) c.8370T>G (n.8370T>G) c.927T>G c.8266T>G (p.Trp2756Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370432T= | CA2082813265 | BRCA2 | c.8362T= (p.Trp2788=) c.7993T= (p.Trp2665=) c.829T= (p.Trp277=) c.8370T= (n.8370T=) c.927T= c.8266T= (p.Trp2756=) | |
13 | g.32370432_32370433del | CA10589488 | BRCA2 | c.8362_8363del (p.Trp2788ValfsTer9) c.7993_7994del (p.Trp2665ValfsTer9) c.829_830del (p.Trp277ValfsTer9) c.8370_8371del (n.8370_8371del) c.927_928del c.8266_8267del (p.Trp2756ValfsTer9) | ClinVar dbSNP |
13 | g.32370433G>A | CA025603 | BRCA2 | c.8363G>A (p.Trp2788Ter) c.7994G>A (p.Trp2665Ter) c.830G>A (p.Trp277Ter) c.8371G>A (n.8371G>A) c.928G>A c.8267G>A (p.Trp2756Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32370433G>C | CA025604 | BRCA2 | c.8363G>C (p.Trp2788Ser) c.7994G>C (p.Trp2665Ser) c.830G>C (p.Trp277Ser) c.8371G>C (n.8371G>C) c.928G>C c.8267G>C (p.Trp2756Ser) | ClinVar dbSNP |
13 | g.32370433G= | CA2082813280 | BRCA2 | c.8363G= (p.Trp2788=) c.7994G= (p.Trp2665=) c.830G= (p.Trp277=) c.8371G= (n.8371G=) c.928G= c.8267G= (p.Trp2756=) | |
13 | g.32370433G>T | CA6941223 | BRCA2 | c.8363G>T (p.Trp2788Leu) c.7994G>T (p.Trp2665Leu) c.830G>T (p.Trp277Leu) c.8371G>T (n.8371G>T) c.928G>T c.8267G>T (p.Trp2756Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32370434G>A | CA025605 | BRCA2 | c.8364G>A (p.Trp2788Ter) c.7995G>A (p.Trp2665Ter) c.831G>A (p.Trp277Ter) c.8372G>A (n.8372G>A) c.929G>A c.8268G>A (p.Trp2756Ter) | ClinVar dbSNP |
13 | g.32370434G>C | CA387752422 | BRCA2 | c.8364G>C (p.Trp2788Cys) c.7995G>C (p.Trp2665Cys) c.831G>C (p.Trp277Cys) c.8372G>C (n.8372G>C) c.929G>C c.8268G>C (p.Trp2756Cys) | ClinVar dbSNP |
13 | g.32370434G= | CA2082813312 | BRCA2 | c.8364G= (p.Trp2788=) c.7995G= (p.Trp2665=) c.831G= (p.Trp277=) c.8372G= (n.8372G=) c.929G= c.8268G= (p.Trp2756=) | |
13 | g.32370434G>T | CA387752424 | BRCA2 | c.8364G>T (p.Trp2788Cys) c.7995G>T (p.Trp2665Cys) c.831G>T (p.Trp277Cys) c.8372G>T (n.8372G>T) c.929G>T c.8268G>T (p.Trp2756Cys) | dbSNP |
13 | g.32370435T>A | CA387752426 | BRCA2 | c.8365T>A (p.Tyr2789Asn) c.7996T>A (p.Tyr2666Asn) c.832T>A (p.Tyr278Asn) c.8373T>A (n.8373T>A) c.930T>A c.8269T>A (p.Tyr2757Asn) | dbSNP |
13 | g.32370435T>C | CA10583141 | BRCA2 | c.8365T>C (p.Tyr2789His) c.7996T>C (p.Tyr2666His) c.832T>C (p.Tyr278His) c.8373T>C (n.8373T>C) c.930T>C c.8269T>C (p.Tyr2757His) | ClinVar dbSNP |
13 | g.32370435T>G | CA387752428 | BRCA2 | c.8365T>G (p.Tyr2789Asp) c.7996T>G (p.Tyr2666Asp) c.832T>G (p.Tyr278Asp) c.8373T>G (n.8373T>G) c.930T>G c.8269T>G (p.Tyr2757Asp) | |
13 | g.32370435T= | CA2082813319 | BRCA2 | c.8365T= (p.Tyr2789=) c.7996T= (p.Tyr2666=) c.832T= (p.Tyr278=) c.8373T= (n.8373T=) c.930T= c.8269T= (p.Tyr2757=) | |
13 | g.32370439_32370440insATATAC | CA2580614685 | BRCA2 | c.8369_8370insATATAC (p.Thr2790_Lys2791insTyrThr) c.8000_8001insATATAC (p.Thr2667_Lys2668insTyrThr) c.836_837insATATAC (p.Thr279_Lys280insTyrThr) c.8377_8378insATATAC (n.8377_8378insATATAC) c.934_935insATATAC c.8273_8274insATATAC (p.Thr2758_Lys2759insTyrThr) | dbSNP |
13 | g.32370436A= | CA2082813334 | BRCA2 | c.8366A= (p.Tyr2789=) c.7997A= (p.Tyr2666=) c.833A= (p.Tyr278=) c.8374A= (n.8374A=) c.931A= c.8270A= (p.Tyr2757=) | |
13 | g.32370436A>C | CA387752430 | BRCA2 | c.8366A>C (p.Tyr2789Ser) c.7997A>C (p.Tyr2666Ser) c.833A>C (p.Tyr278Ser) c.8374A>C (n.8374A>C) c.931A>C c.8270A>C (p.Tyr2757Ser) | |
13 | g.32370436A>G | CA025606 | BRCA2 | c.8366A>G (p.Tyr2789Cys) c.7997A>G (p.Tyr2666Cys) c.833A>G (p.Tyr278Cys) c.8374A>G (n.8374A>G) c.931A>G c.8270A>G (p.Tyr2757Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.32370436A>T | CA387752431 | BRCA2 | c.8366A>T (p.Tyr2789Phe) c.7997A>T (p.Tyr2666Phe) c.833A>T (p.Tyr278Phe) c.8374A>T (n.8374A>T) c.931A>T c.8270A>T (p.Tyr2757Phe) | ClinVar dbSNP |
13 | g.32370436dup | CA919242910 | BRCA2 | c.8366dup (p.Tyr2789Ter) c.7997dup (p.Tyr2666Ter) c.833dup (p.Tyr278Ter) c.8374dup (n.8374dup) c.931dup c.8270dup (p.Tyr2757Ter) | ClinVar dbSNP |
13 | g.32370437del | CA2499222327 | BRCA2 | c.8367del (p.Tyr2789Ter) c.7998del (p.Tyr2666Ter) c.834del (p.Tyr278Ter) c.8375del (n.8375del) c.932del c.8271del (p.Tyr2757Ter) | |
13 | g.32370437T>A | CA387752432 | BRCA2 | c.8367T>A (p.Tyr2789Ter) c.7998T>A (p.Tyr2666Ter) c.834T>A (p.Tyr278Ter) c.8375T>A (n.8375T>A) c.932T>A c.8271T>A (p.Tyr2757Ter) | dbSNP |
13 | g.32370437T>C | CA025607 | BRCA2 | c.8367T>C (p.Tyr2789=) c.7998T>C (p.Tyr2666=) c.834T>C (p.Tyr278=) c.8375T>C (n.8375T>C) c.932T>C c.8271T>C (p.Tyr2757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370437T>G | CA387752433 | BRCA2 | c.8367T>G (p.Tyr2789Ter) c.7998T>G (p.Tyr2666Ter) c.834T>G (p.Tyr278Ter) c.8375T>G (n.8375T>G) c.932T>G c.8271T>G (p.Tyr2757Ter) | dbSNP |
13 | g.32370437T= | CA2082813347 | BRCA2 | c.8367T= (p.Tyr2789=) c.7998T= (p.Tyr2666=) c.834T= (p.Tyr278=) c.8375T= (n.8375T=) c.932T= c.8271T= (p.Tyr2757=) | |
13 | g.32370437_32370439delinsA | CA2695217919 | BRCA2 | c.8367_8369delinsA (p.Tyr2789Ter) c.7998_8000delinsA (p.Tyr2666Ter) c.834_836delinsA (p.Tyr278Ter) c.8375_8377delinsA (n.8375_8377delinsA) c.932_934delinsA c.8271_8273delinsA (p.Tyr2757Ter) | |
13 | g.32370438A= | CA2082813360 | BRCA2 | c.8368A= (p.Thr2790=) c.7999A= (p.Thr2667=) c.835A= (p.Thr279=) c.8376A= (n.8376A=) c.933A= c.8272A= (p.Thr2758=) | |
13 | g.32370438A>C | CA387752435 | BRCA2 | c.8368A>C (p.Thr2790Pro) c.7999A>C (p.Thr2667Pro) c.835A>C (p.Thr279Pro) c.8376A>C (n.8376A>C) c.933A>C c.8272A>C (p.Thr2758Pro) | |
13 | g.32370438A>G | CA387752434 | BRCA2 | c.8368A>G (p.Thr2790Ala) c.7999A>G (p.Thr2667Ala) c.835A>G (p.Thr279Ala) c.8376A>G (n.8376A>G) c.933A>G c.8272A>G (p.Thr2758Ala) | ClinVar dbSNP |
13 | g.32370438A>T | CA025608 | BRCA2 | c.8368A>T (p.Thr2790Ser) c.7999A>T (p.Thr2667Ser) c.835A>T (p.Thr279Ser) c.8376A>T (n.8376A>T) c.933A>T c.8272A>T (p.Thr2758Ser) | ClinVar dbSNP |
13 | g.32370439C>A | CA387752436 | BRCA2 | c.8369C>A (p.Thr2790Asn) c.8000C>A (p.Thr2667Asn) c.836C>A (p.Thr279Asn) c.8377C>A (n.8377C>A) c.934C>A c.8273C>A (p.Thr2758Asn) | ClinVar dbSNP |
13 | g.32370439C= | CA2082813364 | BRCA2 | c.8369C= (p.Thr2790=) c.8000C= (p.Thr2667=) c.836C= (p.Thr279=) c.8377C= (n.8377C=) c.934C= c.8273C= (p.Thr2758=) | |
13 | g.32370439C>G | CA387752437 | BRCA2 | c.8369C>G (p.Thr2790Ser) c.8000C>G (p.Thr2667Ser) c.836C>G (p.Thr279Ser) c.8377C>G (n.8377C>G) c.934C>G c.8273C>G (p.Thr2758Ser) | ClinVar dbSNP |
13 | g.32370439C>T | CA387752438 | BRCA2 | c.8369C>T (p.Thr2790Ile) c.8000C>T (p.Thr2667Ile) c.836C>T (p.Thr279Ile) c.8377C>T (n.8377C>T) c.934C>T c.8273C>T (p.Thr2758Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32370440C>A | CA483261184 | BRCA2 | c.8370C>A (p.Thr2790=) c.8001C>A (p.Thr2667=) c.837C>A (p.Thr279=) c.8378C>A (n.8378C>A) c.935C>A c.8274C>A (p.Thr2758=) | dbSNP |
13 | g.32370440C>G | CA483261185 | BRCA2 | c.8370C>G (p.Thr2790=) c.8001C>G (p.Thr2667=) c.837C>G (p.Thr279=) c.8378C>G (n.8378C>G) c.935C>G c.8274C>G (p.Thr2758=) | dbSNP |
13 | g.32370440C>T | CA483261186 | BRCA2 | c.8370C>T (p.Thr2790=) c.8001C>T (p.Thr2667=) c.837C>T (p.Thr279=) c.8378C>T (n.8378C>T) c.935C>T c.8274C>T (p.Thr2758=) | ClinVar dbSNP |
13 | g.32370440_32370441delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT | CA2739277517 | BRCA2 | c.8370_8371delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2791TyrfsTer43) c.8001_8002delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2668TyrfsTer43) c.837_838delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys280TyrfsTer43) c.8378_8379delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (n.8378_8379delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT) c.935_936delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT c.8274_8275delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2759TyrfsTer43) | ClinVar |
13 | g.32370441A>C | CA387752439 | BRCA2 | c.8371A>C (p.Lys2791Gln) c.8002A>C (p.Lys2668Gln) c.838A>C (p.Lys280Gln) c.8379A>C (n.8379A>C) c.936A>C c.8275A>C (p.Lys2759Gln) | |
13 | g.32370441A>G | CA387752440 | BRCA2 | c.8371A>G (p.Lys2791Glu) c.8002A>G (p.Lys2668Glu) c.838A>G (p.Lys280Glu) c.8379A>G (n.8379A>G) c.936A>G c.8275A>G (p.Lys2759Glu) | |
13 | g.32370441A>T | CA387752441 | BRCA2 | c.8371A>T (p.Lys2791Ter) c.8002A>T (p.Lys2668Ter) c.838A>T (p.Lys280Ter) c.8379A>T (n.8379A>T) c.936A>T c.8275A>T (p.Lys2759Ter) | |
13 | g.32370443del | CA2697551787 | BRCA2 | c.8373del (p.Lys2791AsnfsTer30) c.8004del (p.Lys2668AsnfsTer30) c.840del (p.Lys280AsnfsTer30) c.8381del (n.8381del) c.938del c.8277del (p.Lys2759AsnfsTer30) | ClinVar |
13 | g.32370441_32370442insGCTGGTATACATATACAAATACCAAGTTTGGT | CA2499222328 | BRCA2 | c.8371_8372insGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2791SerfsTer41) c.8002_8003insGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2668SerfsTer41) c.838_839insGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys280SerfsTer41) c.8379_8380insGCTGGTATACATATACAAATACCAAGTTTGGT (n.8379_8380insGCTGGTATACATATACAAATACCAAGTTTGGT) c.936_937insGCTGGTATACATATACAAATACCAAGTTTGGT c.8275_8276insGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2759SerfsTer41) | dbSNP |
13 | g.32370442A>C | CA387752442 | BRCA2 | c.8372A>C (p.Lys2791Thr) c.8003A>C (p.Lys2668Thr) c.839A>C (p.Lys280Thr) c.8380A>C (n.8380A>C) c.937A>C c.8276A>C (p.Lys2759Thr) | |
13 | g.32370442A>G | CA387752443 | BRCA2 | c.8372A>G (p.Lys2791Arg) c.8003A>G (p.Lys2668Arg) c.839A>G (p.Lys280Arg) c.8380A>G (n.8380A>G) c.937A>G c.8276A>G (p.Lys2759Arg) | ClinVar dbSNP |
13 | g.32370442A>T | CA387752444 | BRCA2 | c.8372A>T (p.Lys2791Ile) c.8003A>T (p.Lys2668Ile) c.839A>T (p.Lys280Ile) c.8380A>T (n.8380A>T) c.937A>T c.8276A>T (p.Lys2759Ile) | dbSNP |
13 | g.32370443A= | CA2082813371 | BRCA2 | c.8373A= (p.Lys2791=) c.8004A= (p.Lys2668=) c.840A= (p.Lys280=) c.8381A= (n.8381A=) c.938A= c.8277A= (p.Lys2759=) | |
13 | g.32370443A>C | CA387752445 | BRCA2 | c.8373A>C (p.Lys2791Asn) c.8004A>C (p.Lys2668Asn) c.840A>C (p.Lys280Asn) c.8381A>C (n.8381A>C) c.938A>C c.8277A>C (p.Lys2759Asn) | dbSNP |
13 | g.32370443A>G | CA6941224 | BRCA2 | c.8373A>G (p.Lys2791=) c.8004A>G (p.Lys2668=) c.840A>G (p.Lys280=) c.8381A>G (n.8381A>G) c.938A>G c.8277A>G (p.Lys2759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370443A>T | CA387752446 | BRCA2 | c.8373A>T (p.Lys2791Asn) c.8004A>T (p.Lys2668Asn) c.840A>T (p.Lys280Asn) c.8381A>T (n.8381A>T) c.938A>T c.8277A>T (p.Lys2759Asn) | dbSNP |
13 | g.32370443_32370444delinsAC | CA2082813370 | BRCA2 | c.8373_8374delinsAC (p.Lys2791=) c.8004_8005delinsAC (p.Lys2668=) c.840_841delinsAC (p.Lys280=) c.8381_8382delinsAC (n.8381_8382delinsAC) c.938_939delinsAC c.8277_8278delinsAC (p.Lys2759=) | |
13 | g.32370443_32370454delinsACTTGGATTCTT | CA2082813380 | BRCA2 | c.8373_8384delinsACTTGGATTCTT (p.Lys2791=) c.8004_8015delinsACTTGGATTCTT (p.Lys2668=) c.840_851delinsACTTGGATTCTT (p.Lys280=) c.8381_8392delinsACTTGGATTCTT (n.8381_8392delinsACTTGGATTCTT) c.938_949delinsACTTGGATTCTT c.8277_8288delinsACTTGGATTCTT (p.Lys2759=) | |
13 | g.32370444del | CA025611 | BRCA2 | c.8374del (p.Gly2793AspfsTer28) c.8005del (p.Gly2670AspfsTer28) c.841del (p.Gly282AspfsTer28) c.8382del (n.8382del) c.939del c.8278del (p.Gly2761AspfsTer28) | ClinVar dbSNP |
13 | g.32370444C>A | CA387752448 | BRCA2 | c.8374C>A (p.Leu2792Ile) c.8005C>A (p.Leu2669Ile) c.841C>A (p.Leu281Ile) c.8382C>A (n.8382C>A) c.939C>A c.8278C>A (p.Leu2760Ile) | COSMIC COSMIC |
13 | g.32370444C= | CA2082813409 | BRCA2 | c.8374C= (p.Leu2792=) c.8005C= (p.Leu2669=) c.841C= (p.Leu281=) c.8382C= (n.8382C=) c.939C= c.8278C= (p.Leu2760=) | |
13 | g.32370444C>G | CA387752447 | BRCA2 | c.8374C>G (p.Leu2792Val) c.8005C>G (p.Leu2669Val) c.841C>G (p.Leu281Val) c.8382C>G (n.8382C>G) c.939C>G c.8278C>G (p.Leu2760Val) | dbSNP |
13 | g.32370444C>T | CA025610 | BRCA2 | c.8374C>T (p.Leu2792Phe) c.8005C>T (p.Leu2669Phe) c.841C>T (p.Leu281Phe) c.8382C>T (n.8382C>T) c.939C>T c.8278C>T (p.Leu2760Phe) | ClinVar dbSNP |
13 | g.32370444_32370454delinsA | CA10589489 | BRCA2 | c.8374_8384delinsA (p.Leu2792IlefsTer26) c.8005_8015delinsA (p.Leu2669IlefsTer26) c.841_851delinsA (p.Leu281IlefsTer26) c.8382_8392delinsA (n.8382_8392delinsA) c.939_949delinsA c.8278_8288delinsA (p.Leu2760IlefsTer26) | ClinVar dbSNP |
13 | g.32370444_32370454delinsAAG | CA658823575 | BRCA2 | c.8374_8384delinsAAG (p.Leu2792LysfsTer3) c.8005_8015delinsAAG (p.Leu2669LysfsTer3) c.841_851delinsAAG (p.Leu281LysfsTer3) c.8382_8392delinsAAG (n.8382_8392delinsAAG) c.939_949delinsAAG c.8278_8288delinsAAG (p.Leu2760LysfsTer3) | ClinVar dbSNP |
13 | g.32370444_32370454delinsAGG | CA658653814 | BRCA2 | c.8374_8384delinsAGG (p.Leu2792ArgfsTer3) c.8005_8015delinsAGG (p.Leu2669ArgfsTer3) c.841_851delinsAGG (p.Leu281ArgfsTer3) c.8382_8392delinsAGG (n.8382_8392delinsAGG) c.939_949delinsAGG c.8278_8288delinsAGG (p.Leu2760ArgfsTer3) | ClinVar dbSNP |
13 | g.32370445T>A | CA387752449 | BRCA2 | c.8375T>A (p.Leu2792His) c.8006T>A (p.Leu2669His) c.842T>A (p.Leu281His) c.8383T>A (n.8383T>A) c.940T>A c.8279T>A (p.Leu2760His) | dbSNP |
13 | g.32370445T>C | CA025612 | BRCA2 | c.8375T>C (p.Leu2792Pro) c.8006T>C (p.Leu2669Pro) c.842T>C (p.Leu281Pro) c.8383T>C (n.8383T>C) c.940T>C c.8279T>C (p.Leu2760Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370445T>G | CA387752450 | BRCA2 | c.8375T>G (p.Leu2792Arg) c.8006T>G (p.Leu2669Arg) c.842T>G (p.Leu281Arg) c.8383T>G (n.8383T>G) c.940T>G c.8279T>G (p.Leu2760Arg) | ClinVar dbSNP |
13 | g.32370445T= | CA2082813422 | BRCA2 | c.8375T= (p.Leu2792=) c.8006T= (p.Leu2669=) c.842T= (p.Leu281=) c.8383T= (n.8383T=) c.940T= c.8279T= (p.Leu2760=) | |
13 | g.32370446T>A | CA483261187 | BRCA2 | c.8376T>A (p.Leu2792=) c.8007T>A (p.Leu2669=) c.843T>A (p.Leu281=) c.8384T>A (n.8384T>A) c.941T>A c.8280T>A (p.Leu2760=) | |
13 | g.32370446T>C | CA483261189 | BRCA2 | c.8376T>C (p.Leu2792=) c.8007T>C (p.Leu2669=) c.843T>C (p.Leu281=) c.8384T>C (n.8384T>C) c.941T>C c.8280T>C (p.Leu2760=) | |
13 | g.32370446T>G | CA483261188 | BRCA2 | c.8376T>G (p.Leu2792=) c.8007T>G (p.Leu2669=) c.843T>G (p.Leu281=) c.8384T>G (n.8384T>G) c.941T>G c.8280T>G (p.Leu2760=) | gnomAD v4 |
13 | g.32370447G>A | CA025613 | BRCA2 | c.8377G>A (p.Gly2793Arg) c.8008G>A (p.Gly2670Arg) c.844G>A (p.Gly282Arg) c.8385G>A (n.8385G>A) c.942G>A c.8281G>A (p.Gly2761Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370447G>C | CA387752451 | BRCA2 | c.8377G>C (p.Gly2793Arg) c.8008G>C (p.Gly2670Arg) c.844G>C (p.Gly282Arg) c.8385G>C (n.8385G>C) c.942G>C c.8281G>C (p.Gly2761Arg) | dbSNP |
13 | g.32370447G= | CA2082813438 | BRCA2 | c.8377G= (p.Gly2793=) c.8008G= (p.Gly2670=) c.844G= (p.Gly282=) c.8385G= (n.8385G=) c.942G= c.8281G= (p.Gly2761=) | |
13 | g.32370447G>T | CA10586588 | BRCA2 | c.8377G>T (p.Gly2793Ter) c.8008G>T (p.Gly2670Ter) c.844G>T (p.Gly282Ter) c.8385G>T (n.8385G>T) c.942G>T c.8281G>T (p.Gly2761Ter) | ClinVar dbSNP |
13 | g.32370447_32370448delinsGG | CA2082813440 | BRCA2 | c.8377_8378delinsGG (p.Gly2793=) c.8008_8009delinsGG (p.Gly2670=) c.844_845delinsGG (p.Gly282=) c.8385_8386delinsGG (n.8385_8386delinsGG) c.942_943delinsGG c.8281_8282delinsGG (p.Gly2761=) | |
13 | g.32370448dup | CA2580087358 | BRCA2 | c.8378dup (p.Phe2794IlefsTer4) c.8009dup (p.Phe2671IlefsTer4) c.845dup (p.Phe283IlefsTer4) c.8386dup (n.8386dup) c.943dup c.8282dup (p.Phe2762IlefsTer4) | ClinVar |
13 | g.32370448G>A | CA025614 | BRCA2 | c.8378G>A (p.Gly2793Glu) c.8009G>A (p.Gly2670Glu) c.845G>A (p.Gly282Glu) c.8386G>A (n.8386G>A) c.943G>A c.8282G>A (p.Gly2761Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32370448G>C | CA387752452 | BRCA2 | c.8378G>C (p.Gly2793Ala) c.8009G>C (p.Gly2670Ala) c.845G>C (p.Gly282Ala) c.8386G>C (n.8386G>C) c.943G>C c.8282G>C (p.Gly2761Ala) | dbSNP |
13 | g.32370448G= | CA2082813467 | BRCA2 | c.8378G= (p.Gly2793=) c.8009G= (p.Gly2670=) c.845G= (p.Gly282=) c.8386G= (n.8386G=) c.943G= c.8282G= (p.Gly2761=) | |
13 | g.32370448G>T | CA025615 | BRCA2 | c.8378G>T (p.Gly2793Val) c.8009G>T (p.Gly2670Val) c.845G>T (p.Gly282Val) c.8386G>T (n.8386G>T) c.943G>T c.8282G>T (p.Gly2761Val) | ClinVar dbSNP |
13 | g.32370448delinsAA | CA10586589 | BRCA2 | c.8378delinsAA (p.Gly2793GlufsTer5) c.8009delinsAA (p.Gly2670GlufsTer5) c.845delinsAA (p.Gly282GlufsTer5) c.8386delinsAA (n.8386delinsAA) c.943delinsAA c.8282delinsAA (p.Gly2761GlufsTer5) | ClinVar dbSNP |
13 | g.32370449A= | CA2082813475 | BRCA2 | c.8379A= (p.Gly2793=) c.8010A= (p.Gly2670=) c.846A= (p.Gly282=) c.8387A= (n.8387A=) c.944A= c.8283A= (p.Gly2761=) | |
13 | g.32370449A>C | CA483261190 | BRCA2 | c.8379A>C (p.Gly2793=) c.8010A>C (p.Gly2670=) c.846A>C (p.Gly282=) c.8387A>C (n.8387A>C) c.944A>C c.8283A>C (p.Gly2761=) | dbSNP |
13 | g.32370449A>G | CA483261191 | BRCA2 | c.8379A>G (p.Gly2793=) c.8010A>G (p.Gly2670=) c.846A>G (p.Gly282=) c.8387A>G (n.8387A>G) c.944A>G c.8283A>G (p.Gly2761=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32370449A>T | CA483261192 | BRCA2 | c.8379A>T (p.Gly2793=) c.8010A>T (p.Gly2670=) c.846A>T (p.Gly282=) c.8387A>T (n.8387A>T) c.944A>T c.8283A>T (p.Gly2761=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32370450T>A | CA387752453 | BRCA2 | c.8380T>A (p.Phe2794Ile) c.8011T>A (p.Phe2671Ile) c.847T>A (p.Phe283Ile) c.8388T>A (n.8388T>A) c.945T>A c.8284T>A (p.Phe2762Ile) | ClinVar dbSNP |
13 | g.32370450T>C | CA387752454 | BRCA2 | c.8380T>C (p.Phe2794Leu) c.8011T>C (p.Phe2671Leu) c.847T>C (p.Phe283Leu) c.8388T>C (n.8388T>C) c.945T>C c.8284T>C (p.Phe2762Leu) | |
13 | g.32370450T>G | CA387752455 | BRCA2 | c.8380T>G (p.Phe2794Val) c.8011T>G (p.Phe2671Val) c.847T>G (p.Phe283Val) c.8388T>G (n.8388T>G) c.945T>G c.8284T>G (p.Phe2762Val) | |
13 | g.32370450T= | CA2082813483 | BRCA2 | c.8380T= (p.Phe2794=) c.8011T= (p.Phe2671=) c.847T= (p.Phe283=) c.8388T= (n.8388T=) c.945T= c.8284T= (p.Phe2762=) | |
13 | g.32370451T>A | CA387752458 | BRCA2 | c.8381T>A (p.Phe2794Tyr) c.8012T>A (p.Phe2671Tyr) c.848T>A (p.Phe283Tyr) c.8389T>A (n.8389T>A) c.946T>A c.8285T>A (p.Phe2762Tyr) | dbSNP |
13 | g.32370451T>C | CA387752456 | BRCA2 | c.8381T>C (p.Phe2794Ser) c.8012T>C (p.Phe2671Ser) c.848T>C (p.Phe283Ser) c.8389T>C (n.8389T>C) c.946T>C c.8285T>C (p.Phe2762Ser) | dbSNP |
13 | g.32370451T>G | CA387752457 | BRCA2 | c.8381T>G (p.Phe2794Cys) c.8012T>G (p.Phe2671Cys) c.848T>G (p.Phe283Cys) c.8389T>G (n.8389T>G) c.946T>G c.8285T>G (p.Phe2762Cys) | |
13 | g.32370452C>A | CA387752459 | BRCA2 | c.8382C>A (p.Phe2794Leu) c.8013C>A (p.Phe2671Leu) c.849C>A (p.Phe283Leu) c.8390C>A (n.8390C>A) c.947C>A c.8286C>A (p.Phe2762Leu) | |
13 | g.32370452C= | CA2082813485 | BRCA2 | c.8382C= (p.Phe2794=) c.8013C= (p.Phe2671=) c.849C= (p.Phe283=) c.8390C= (n.8390C=) c.947C= c.8286C= (p.Phe2762=) | |
13 | g.32370452C>G | CA025617 | BRCA2 | c.8382C>G (p.Phe2794Leu) c.8013C>G (p.Phe2671Leu) c.849C>G (p.Phe283Leu) c.8390C>G (n.8390C>G) c.947C>G c.8286C>G (p.Phe2762Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32370452C>T | CA483261193 | BRCA2 | c.8382C>T (p.Phe2794=) c.8013C>T (p.Phe2671=) c.849C>T (p.Phe283=) c.8390C>T (n.8390C>T) c.947C>T c.8286C>T (p.Phe2762=) | dbSNP |
13 | g.32370452_32370453delinsCT | CA2082813489 | BRCA2 | c.8382_8383delinsCT (p.Phe2794=) c.8013_8014delinsCT (p.Phe2671=) c.849_850delinsCT (p.Phe283=) c.8390_8391delinsCT (n.8390_8391delinsCT) c.947_948delinsCT c.8286_8287delinsCT (p.Phe2762=) | |
13 | g.32370453T>A | CA6941225 | BRCA2 | c.8383T>A (p.Phe2795Ile) c.8014T>A (p.Phe2672Ile) c.850T>A (p.Phe284Ile) c.8391T>A (n.8391T>A) c.948T>A c.8287T>A (p.Phe2763Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370453T>C | CA387752460 | BRCA2 | c.8383T>C (p.Phe2795Leu) c.8014T>C (p.Phe2672Leu) c.850T>C (p.Phe284Leu) c.8391T>C (n.8391T>C) c.948T>C c.8287T>C (p.Phe2763Leu) | dbSNP |
13 | g.32370453T>G | CA387752461 | BRCA2 | c.8383T>G (p.Phe2795Val) c.8014T>G (p.Phe2672Val) c.850T>G (p.Phe284Val) c.8391T>G (n.8391T>G) c.948T>G c.8287T>G (p.Phe2763Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32370453T= | CA2082813505 | BRCA2 | c.8383T= (p.Phe2795=) c.8014T= (p.Phe2672=) c.850T= (p.Phe284=) c.8391T= (n.8391T=) c.948T= c.8287T= (p.Phe2763=) | |
13 | g.32370455del | CA10589490 | BRCA2 | c.8385del (p.Pro2796LeufsTer25) c.8016del (p.Pro2673LeufsTer25) c.852del (p.Pro285LeufsTer25) c.8393del (n.8393del) c.950del c.8289del (p.Pro2764LeufsTer25) | ClinVar dbSNP |
13 | g.32370453_32370465delinsTTTCCTGACCCTA | CA2082813502 | BRCA2 | c.8383_8395delinsTTTCCTGACCCTA (p.Phe2795=) c.8014_8026delinsTTTCCTGACCCTA (p.Phe2672=) c.850_862delinsTTTCCTGACCCTA (p.Phe284=) c.8391_8403delinsTTTCCTGACCCTA (n.8391_8403delinsTTTCCTGACCCTA) c.948_960delinsTTTCCTGACCCTA c.8287_8299delinsTTTCCTGACCCTA (p.Phe2763=) | |
13 | g.32370454T>A | CA387752462 | BRCA2 | c.8384T>A (p.Phe2795Tyr) c.8015T>A (p.Phe2672Tyr) c.851T>A (p.Phe284Tyr) c.8392T>A (n.8392T>A) c.949T>A c.8288T>A (p.Phe2763Tyr) | |
13 | g.32370454T>C | CA387752463 | BRCA2 | c.8384T>C (p.Phe2795Ser) c.8015T>C (p.Phe2672Ser) c.851T>C (p.Phe284Ser) c.8392T>C (n.8392T>C) c.949T>C c.8288T>C (p.Phe2763Ser) | |
13 | g.32370454T>G | CA387752464 | BRCA2 | c.8384T>G (p.Phe2795Cys) c.8015T>G (p.Phe2672Cys) c.851T>G (p.Phe284Cys) c.8392T>G (n.8392T>G) c.949T>G c.8288T>G (p.Phe2763Cys) | ClinVar dbSNP |
13 | g.32370454T= | CA2082813521 | BRCA2 | c.8384T= (p.Phe2795=) c.8015T= (p.Phe2672=) c.851T= (p.Phe284=) c.8392T= (n.8392T=) c.949T= c.8288T= (p.Phe2763=) | |
13 | g.32370454_32370465del | CA025618 | BRCA2 | c.8384_8395del (p.Phe2795Ter) c.8015_8026del (p.Phe2672Ter) c.851_862del (p.Phe284Ter) c.8392_8403del (n.8392_8403del) c.949_960del c.8288_8299del (p.Phe2763Ter) | ClinVar dbSNP |
13 | g.32370455T>A | CA387752465 | BRCA2 | c.8385T>A (p.Phe2795Leu) c.8016T>A (p.Phe2672Leu) c.852T>A (p.Phe284Leu) c.8393T>A (n.8393T>A) c.950T>A c.8289T>A (p.Phe2763Leu) | dbSNP |
13 | g.32370455T>C | CA483261194 | BRCA2 | c.8385T>C (p.Phe2795=) c.8016T>C (p.Phe2672=) c.852T>C (p.Phe284=) c.8393T>C (n.8393T>C) c.950T>C c.8289T>C (p.Phe2763=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370455T>G | CA387752466 | BRCA2 | c.8385T>G (p.Phe2795Leu) c.8016T>G (p.Phe2672Leu) c.852T>G (p.Phe284Leu) c.8393T>G (n.8393T>G) c.950T>G c.8289T>G (p.Phe2763Leu) | |
13 | g.32370455T= | CA2082813526 | BRCA2 | c.8385T= (p.Phe2795=) c.8016T= (p.Phe2672=) c.852T= (p.Phe284=) c.8393T= (n.8393T=) c.950T= c.8289T= (p.Phe2763=) | |
13 | g.32370456C>A | CA387752467 | BRCA2 | c.8386C>A (p.Pro2796Thr) c.8017C>A (p.Pro2673Thr) c.853C>A (p.Pro285Thr) c.8394C>A (n.8394C>A) c.951C>A c.8290C>A (p.Pro2764Thr) | dbSNP |
13 | g.32370456C= | CA2082813532 | BRCA2 | c.8386C= (p.Pro2796=) c.8017C= (p.Pro2673=) c.853C= (p.Pro285=) c.8394C= (n.8394C=) c.951C= c.8290C= (p.Pro2764=) | |
13 | g.32370456C>G | CA387752468 | BRCA2 | c.8386C>G (p.Pro2796Ala) c.8017C>G (p.Pro2673Ala) c.853C>G (p.Pro285Ala) c.8394C>G (n.8394C>G) c.951C>G c.8290C>G (p.Pro2764Ala) | dbSNP |
13 | g.32370456C>T | CA025620 | BRCA2 | c.8386C>T (p.Pro2796Ser) c.8017C>T (p.Pro2673Ser) c.853C>T (p.Pro285Ser) c.8394C>T (n.8394C>T) c.951C>T c.8290C>T (p.Pro2764Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370457C>A | CA387752469 | BRCA2 | c.8387C>A (p.Pro2796His) c.8018C>A (p.Pro2673His) c.854C>A (p.Pro285His) c.8395C>A (n.8395C>A) c.952C>A c.8291C>A (p.Pro2764His) | |
13 | g.32370457C>G | CA387752470 | BRCA2 | c.8387C>G (p.Pro2796Arg) c.8018C>G (p.Pro2673Arg) c.854C>G (p.Pro285Arg) c.8395C>G (n.8395C>G) c.952C>G c.8291C>G (p.Pro2764Arg) | dbSNP |
13 | g.32370457C>T | CA387752471 | BRCA2 | c.8387C>T (p.Pro2796Leu) c.8018C>T (p.Pro2673Leu) c.854C>T (p.Pro285Leu) c.8395C>T (n.8395C>T) c.952C>T c.8291C>T (p.Pro2764Leu) | ClinVar dbSNP |
13 | g.32370458T>A | CA483261195 | BRCA2 | c.8388T>A (p.Pro2796=) c.8019T>A (p.Pro2673=) c.855T>A (p.Pro285=) c.8396T>A (n.8396T>A) c.953T>A c.8292T>A (p.Pro2764=) | dbSNP |
13 | g.32370458T>C | CA16607495 | BRCA2 | c.8388T>C (p.Pro2796=) c.8019T>C (p.Pro2673=) c.855T>C (p.Pro285=) c.8396T>C (n.8396T>C) c.953T>C c.8292T>C (p.Pro2764=) | ClinVar dbSNP |
13 | g.32370458T>G | CA483261196 | BRCA2 | c.8388T>G (p.Pro2796=) c.8019T>G (p.Pro2673=) c.855T>G (p.Pro285=) c.8396T>G (n.8396T>G) c.953T>G c.8292T>G (p.Pro2764=) | |
13 | g.32370458T= | CA2082813546 | BRCA2 | c.8388T= (p.Pro2796=) c.8019T= (p.Pro2673=) c.855T= (p.Pro285=) c.8396T= (n.8396T=) c.953T= c.8292T= (p.Pro2764=) | |
13 | g.32370458_32370465delinsTGACCCTA | CA2082813545 | BRCA2 | c.8388_8395delinsTGACCCTA (p.Pro2796=) c.8019_8026delinsTGACCCTA (p.Pro2673=) c.855_862delinsTGACCCTA (p.Pro285=) c.8396_8403delinsTGACCCTA (n.8396_8403delinsTGACCCTA) c.953_960delinsTGACCCTA c.8292_8299delinsTGACCCTA (p.Pro2764=) | |
13 | g.32370459G>A | CA387752472 | BRCA2 | c.8389G>A (p.Asp2797Asn) c.8020G>A (p.Asp2674Asn) c.856G>A (p.Asp286Asn) c.8397G>A (n.8397G>A) c.954G>A c.8293G>A (p.Asp2765Asn) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32370459G>C | CA387752473 | BRCA2 | c.8389G>C (p.Asp2797His) c.8020G>C (p.Asp2674His) c.856G>C (p.Asp286His) c.8397G>C (n.8397G>C) c.954G>C c.8293G>C (p.Asp2765His) | ClinVar dbSNP |
13 | g.32370459G= | CA2082813557 | BRCA2 | c.8389G= (p.Asp2797=) c.8020G= (p.Asp2674=) c.856G= (p.Asp286=) c.8397G= (n.8397G=) c.954G= c.8293G= (p.Asp2765=) | |
13 | g.32370459G>T | CA387752474 | BRCA2 | c.8389G>T (p.Asp2797Tyr) c.8020G>T (p.Asp2674Tyr) c.856G>T (p.Asp286Tyr) c.8397G>T (n.8397G>T) c.954G>T c.8293G>T (p.Asp2765Tyr) | ClinVar dbSNP |
13 | g.32370463_32370469del | CA10589492 | BRCA2 | c.8393_8399del (p.Pro2798LeufsTer21) c.8024_8030del (p.Pro2675LeufsTer21) c.860_866del (p.Pro287LeufsTer21) c.8401_8407del (n.8401_8407del) c.958_964del c.8297_8303del (p.Pro2766LeufsTer21) | ClinVar dbSNP |
13 | g.32370460A= | CA2082813561 | BRCA2 | c.8390A= (p.Asp2797=) c.8021A= (p.Asp2674=) c.857A= (p.Asp286=) c.8398A= (n.8398A=) c.955A= c.8294A= (p.Asp2765=) | |
13 | g.32370460A>C | CA387752477 | BRCA2 | c.8390A>C (p.Asp2797Ala) c.8021A>C (p.Asp2674Ala) c.857A>C (p.Asp286Ala) c.8398A>C (n.8398A>C) c.955A>C c.8294A>C (p.Asp2765Ala) | dbSNP |
13 | g.32370460A>G | CA387752475 | BRCA2 | c.8390A>G (p.Asp2797Gly) c.8021A>G (p.Asp2674Gly) c.857A>G (p.Asp286Gly) c.8398A>G (n.8398A>G) c.955A>G c.8294A>G (p.Asp2765Gly) | |
13 | g.32370460A>T | CA387752476 | BRCA2 | c.8390A>T (p.Asp2797Val) c.8021A>T (p.Asp2674Val) c.857A>T (p.Asp286Val) c.8398A>T (n.8398A>T) c.955A>T c.8294A>T (p.Asp2765Val) | dbSNP |
13 | g.32370461C>A | CA387752478 | BRCA2 | c.8391C>A (p.Asp2797Glu) c.8022C>A (p.Asp2674Glu) c.858C>A (p.Asp286Glu) c.8399C>A (n.8399C>A) c.956C>A c.8295C>A (p.Asp2765Glu) | |
13 | g.32370461C>G | CA387752479 | BRCA2 | c.8391C>G (p.Asp2797Glu) c.8022C>G (p.Asp2674Glu) c.858C>G (p.Asp286Glu) c.8399C>G (n.8399C>G) c.956C>G c.8295C>G (p.Asp2765Glu) | |
13 | g.32370461C>T | CA483261197 | BRCA2 | c.8391C>T (p.Asp2797=) c.8022C>T (p.Asp2674=) c.858C>T (p.Asp286=) c.8399C>T (n.8399C>T) c.956C>T c.8295C>T (p.Asp2765=) | |
13 | g.32370463dup | CA10589493 | BRCA2 | c.8393dup (p.Arg2799Ter) c.8024dup (p.Arg2676Ter) c.860dup (p.Arg288Ter) c.8401dup (n.8401dup) c.958dup c.8297dup (p.Arg2767Ter) | ClinVar dbSNP |
13 | g.32370463del | CA2580087361 | BRCA2 | c.8393del (p.Pro2798LeufsTer23) c.8024del (p.Pro2675LeufsTer23) c.860del (p.Pro287LeufsTer23) c.8401del (n.8401del) c.958del c.8297del (p.Pro2766LeufsTer23) | ClinVar |
13 | g.32370462C>A | CA387752480 | BRCA2 | c.8392C>A (p.Pro2798Thr) c.8023C>A (p.Pro2675Thr) c.859C>A (p.Pro287Thr) c.8400C>A (n.8400C>A) c.957C>A c.8296C>A (p.Pro2766Thr) | ClinVar dbSNP |
13 | g.32370462C= | CA2082813573 | BRCA2 | c.8392C= (p.Pro2798=) c.8023C= (p.Pro2675=) c.859C= (p.Pro287=) c.8400C= (n.8400C=) c.957C= c.8296C= (p.Pro2766=) | |
13 | g.32370462C>G | CA387752481 | BRCA2 | c.8392C>G (p.Pro2798Ala) c.8023C>G (p.Pro2675Ala) c.859C>G (p.Pro287Ala) c.8400C>G (n.8400C>G) c.957C>G c.8296C>G (p.Pro2766Ala) | ClinVar dbSNP |
13 | g.32370462C>T | CA6941226 | BRCA2 | c.8392C>T (p.Pro2798Ser) c.8023C>T (p.Pro2675Ser) c.859C>T (p.Pro287Ser) c.8400C>T (n.8400C>T) c.957C>T c.8296C>T (p.Pro2766Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370463C>A | CA387752482 | BRCA2 | c.8393C>A (p.Pro2798His) c.8024C>A (p.Pro2675His) c.860C>A (p.Pro287His) c.8401C>A (n.8401C>A) c.958C>A c.8297C>A (p.Pro2766His) | ClinVar dbSNP |
13 | g.32370463C= | CA2082813591 | BRCA2 | c.8393C= (p.Pro2798=) c.8024C= (p.Pro2675=) c.860C= (p.Pro287=) c.8401C= (n.8401C=) c.958C= c.8297C= (p.Pro2766=) | |
13 | g.32370463C>G | CA10577493 | BRCA2 | c.8393C>G (p.Pro2798Arg) c.8024C>G (p.Pro2675Arg) c.860C>G (p.Pro287Arg) c.8401C>G (n.8401C>G) c.958C>G c.8297C>G (p.Pro2766Arg) | ClinVar dbSNP |
13 | g.32370463C>T | CA025622 | BRCA2 | c.8393C>T (p.Pro2798Leu) c.8024C>T (p.Pro2675Leu) c.860C>T (p.Pro287Leu) c.8401C>T (n.8401C>T) c.958C>T c.8297C>T (p.Pro2766Leu) | ClinVar dbSNP |
13 | g.32370463_32370466delinsCTAG | CA2082813602 | BRCA2 | c.8393_8396delinsCTAG (p.Pro2798=) c.8024_8027delinsCTAG (p.Pro2675=) c.860_863delinsCTAG (p.Pro287=) c.8401_8404delinsCTAG (n.8401_8404delinsCTAG) c.958_961delinsCTAG c.8297_8300delinsCTAG (p.Pro2766=) | |
13 | g.32370463_32370466dup | CA10589491 | BRCA2 | c.8393_8396dup (p.Arg2799SerfsTer2) c.8024_8027dup (p.Arg2676SerfsTer2) c.860_863dup (p.Arg288SerfsTer2) c.8401_8404dup (n.8401_8404dup) c.958_961dup c.8297_8300dup (p.Arg2767SerfsTer2) | ClinVar dbSNP |
13 | g.32370464del | CA2575387954 | BRCA2 | c.8394del (p.Arg2799AspfsTer22) c.8025del (p.Arg2676AspfsTer22) c.861del (p.Arg288AspfsTer22) c.8402del (n.8402del) c.959del c.8298del (p.Arg2767AspfsTer22) | |
13 | g.32370464T>A | CA483261198 | BRCA2 | c.8394T>A (p.Pro2798=) c.8025T>A (p.Pro2675=) c.861T>A (p.Pro287=) c.8402T>A (n.8402T>A) c.959T>A c.8298T>A (p.Pro2766=) | |
13 | g.32370464T>C | CA483261199 | BRCA2 | c.8394T>C (p.Pro2798=) c.8025T>C (p.Pro2675=) c.861T>C (p.Pro287=) c.8402T>C (n.8402T>C) c.959T>C c.8298T>C (p.Pro2766=) | dbSNP |
13 | g.32370464T>G | CA483261200 | BRCA2 | c.8394T>G (p.Pro2798=) c.8025T>G (p.Pro2675=) c.861T>G (p.Pro287=) c.8402T>G (n.8402T>G) c.959T>G c.8298T>G (p.Pro2766=) | ClinVar dbSNP |
13 | g.32370464T= | CA2082813614 | BRCA2 | c.8394T= (p.Pro2798=) c.8025T= (p.Pro2675=) c.861T= (p.Pro287=) c.8402T= (n.8402T=) c.959T= c.8298T= (p.Pro2766=) | |
13 | g.32370464_32370465delinsTA | CA2082813613 | BRCA2 | c.8394_8395delinsTA (p.Pro2798=) c.8025_8026delinsTA (p.Pro2675=) c.861_862delinsTA (p.Pro287=) c.8402_8403delinsTA (n.8402_8403delinsTA) c.959_960delinsTA c.8298_8299delinsTA (p.Pro2766=) | |
13 | g.32370464_32370466delinsAA | CA025623 | BRCA2 | c.8394_8396delinsAA (p.Arg2799AsnfsTer22) c.8025_8027delinsAA (p.Arg2676AsnfsTer22) c.861_863delinsAA (p.Arg288AsnfsTer22) c.8402_8404delinsAA (n.8402_8404delinsAA) c.959_961delinsAA c.8298_8300delinsAA (p.Arg2767AsnfsTer22) | ClinVar dbSNP |
13 | g.32370465del | CA025624 | BRCA2 | c.8395del (p.Arg2799AspfsTer22) c.8026del (p.Arg2676AspfsTer22) c.862del (p.Arg288AspfsTer22) c.8403del (n.8403del) c.960del c.8299del (p.Arg2767AspfsTer22) | ClinVar dbSNP |
13 | g.32370465A= | CA2082813619 | BRCA2 | c.8395A= (p.Arg2799=) c.8026A= (p.Arg2676=) c.862A= (p.Arg288=) c.8403A= (n.8403A=) c.960A= c.8299A= (p.Arg2767=) | |
13 | g.32370465A>C | CA483261201 | BRCA2 | c.8395A>C (p.Arg2799=) c.8026A>C (p.Arg2676=) c.862A>C (p.Arg288=) c.8403A>C (n.8403A>C) c.960A>C c.8299A>C (p.Arg2767=) | |
13 | g.32370465A>G | CA387752483 | BRCA2 | c.8395A>G (p.Arg2799Gly) c.8026A>G (p.Arg2676Gly) c.862A>G (p.Arg288Gly) c.8403A>G (n.8403A>G) c.960A>G c.8299A>G (p.Arg2767Gly) | ClinVar dbSNP |
13 | g.32370465A>T | CA10589494 | BRCA2 | c.8395A>T (p.Arg2799Ter) c.8026A>T (p.Arg2676Ter) c.862A>T (p.Arg288Ter) c.8403A>T (n.8403A>T) c.960A>T c.8299A>T (p.Arg2767Ter) | ClinVar dbSNP |
13 | g.32370466G>A | CA387752484 | BRCA2 | c.8396G>A (p.Arg2799Lys) c.8027G>A (p.Arg2676Lys) c.863G>A (p.Arg288Lys) c.8404G>A (n.8404G>A) c.961G>A c.8300G>A (p.Arg2767Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.32370466G>C | CA025625 | BRCA2 | c.8396G>C (p.Arg2799Thr) c.8027G>C (p.Arg2676Thr) c.863G>C (p.Arg288Thr) c.8404G>C (n.8404G>C) c.961G>C c.8300G>C (p.Arg2767Thr) | ClinVar dbSNP |
13 | g.32370466G= | CA2082813641 | BRCA2 | c.8396G= (p.Arg2799=) c.8027G= (p.Arg2676=) c.863G= (p.Arg288=) c.8404G= (n.8404G=) c.961G= c.8300G= (p.Arg2767=) | |
13 | g.32370466G>T | CA387752485 | BRCA2 | c.8396G>T (p.Arg2799Ile) c.8027G>T (p.Arg2676Ile) c.863G>T (p.Arg288Ile) c.8404G>T (n.8404G>T) c.961G>T c.8300G>T (p.Arg2767Ile) | |
13 | g.32370466dup | CA645509334 | BRCA2 | c.8396dup (p.Pro2800ThrfsTer12) c.8027dup (p.Pro2677ThrfsTer12) c.863dup (p.Pro289ThrfsTer12) c.8404dup (n.8404dup) c.961dup c.8300dup (p.Pro2768ThrfsTer12) | ClinVar dbSNP |
13 | g.32370467A>C | CA387752486 | BRCA2 | c.8397A>C (p.Arg2799Ser) c.8028A>C (p.Arg2676Ser) c.864A>C (p.Arg288Ser) c.8405A>C (n.8405A>C) c.962A>C c.8301A>C (p.Arg2767Ser) | dbSNP |
13 | g.32370467A>G | CA483261203 | BRCA2 | c.8397A>G (p.Arg2799=) c.8028A>G (p.Arg2676=) c.864A>G (p.Arg288=) c.8405A>G (n.8405A>G) c.962A>G c.8301A>G (p.Arg2767=) | ClinVar |
13 | g.32370467A>T | CA387752487 | BRCA2 | c.8397A>T (p.Arg2799Ser) c.8028A>T (p.Arg2676Ser) c.864A>T (p.Arg288Ser) c.8405A>T (n.8405A>T) c.962A>T c.8301A>T (p.Arg2767Ser) | dbSNP |
13 | g.32370468C>A | CA387752488 | BRCA2 | c.8398C>A (p.Pro2800Thr) c.8029C>A (p.Pro2677Thr) c.865C>A (p.Pro289Thr) c.8406C>A (n.8406C>A) c.963C>A c.8302C>A (p.Pro2768Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32370468C= | CA2082813659 | BRCA2 | c.8398C= (p.Pro2800=) c.8029C= (p.Pro2677=) c.865C= (p.Pro289=) c.8406C= (n.8406C=) c.963C= c.8302C= (p.Pro2768=) | |
13 | g.32370468C>G | CA387752489 | BRCA2 | c.8398C>G (p.Pro2800Ala) c.8029C>G (p.Pro2677Ala) c.865C>G (p.Pro289Ala) c.8406C>G (n.8406C>G) c.963C>G c.8302C>G (p.Pro2768Ala) | dbSNP |
13 | g.32370468C>T | CA025626 | BRCA2 | c.8398C>T (p.Pro2800Ser) c.8029C>T (p.Pro2677Ser) c.865C>T (p.Pro289Ser) c.8406C>T (n.8406C>T) c.963C>T c.8302C>T (p.Pro2768Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32370468_32370469insA | CA2695217922 | BRCA2 | c.8398_8399insA (p.Pro2800HisfsTer12) c.8029_8030insA (p.Pro2677HisfsTer12) c.865_866insA (p.Pro289HisfsTer12) c.8406_8407insA (n.8406_8407insA) c.963_964insA c.8302_8303insA (p.Pro2768HisfsTer12) | |
13 | g.32370469C>A | CA387752491 | BRCA2 | c.8399C>A (p.Pro2800His) c.8030C>A (p.Pro2677His) c.866C>A (p.Pro289His) c.8407C>A (n.8407C>A) c.964C>A c.8303C>A (p.Pro2768His) | ClinVar dbSNP |
13 | g.32370469C= | CA2082813671 | BRCA2 | c.8399C= (p.Pro2800=) c.8030C= (p.Pro2677=) c.866C= (p.Pro289=) c.8407C= (n.8407C=) c.964C= c.8303C= (p.Pro2768=) | |
13 | g.32370469C>G | CA025627 | BRCA2 | c.8399C>G (p.Pro2800Arg) c.8030C>G (p.Pro2677Arg) c.866C>G (p.Pro289Arg) c.8407C>G (n.8407C>G) c.964C>G c.8303C>G (p.Pro2768Arg) | ClinVar dbSNP |
13 | g.32370469C>T | CA387752490 | BRCA2 | c.8399C>T (p.Pro2800Leu) c.8030C>T (p.Pro2677Leu) c.866C>T (p.Pro289Leu) c.8407C>T (n.8407C>T) c.964C>T c.8303C>T (p.Pro2768Leu) | ClinVar dbSNP |
13 | g.32370469_32370470delinsCT | CA2082813686 | BRCA2 | c.8399_8400delinsCT (p.Pro2800=) c.8030_8031delinsCT (p.Pro2677=) c.866_867delinsCT (p.Pro289=) c.8407_8408delinsCT (n.8407_8408delinsCT) c.964_965delinsCT c.8303_8304delinsCT (p.Pro2768=) | |
13 | g.32370469_32370472delinsCTTT | CA2082813680 | BRCA2 | c.8399_8402delinsCTTT (p.Pro2800=) c.8030_8033delinsCTTT (p.Pro2677=) c.866_869delinsCTTT (p.Pro289=) c.8407_8410delinsCTTT (n.8407_8410delinsCTTT) c.964_967delinsCTTT c.8303_8306delinsCTTT (p.Pro2768=) | |
13 | g.32370469_32370470insA | CA658761168 | BRCA2 | c.8399_8400insA (p.Pro2802SerfsTer10) c.8030_8031insA (p.Pro2679SerfsTer10) c.866_867insA (p.Pro291SerfsTer10) c.8407_8408insA (n.8407_8408insA) c.964_965insA c.8303_8304insA (p.Pro2770SerfsTer10) | |
13 | g.32370469_32370470insAAAA | CA919242916 | BRCA2 | c.8399_8400insAAAA (p.Phe2801LysfsTer12) c.8030_8031insAAAA (p.Phe2678LysfsTer12) c.866_867insAAAA (p.Phe290LysfsTer12) c.8407_8408insAAAA (n.8407_8408insAAAA) c.964_965insAAAA c.8303_8304insAAAA (p.Phe2769LysfsTer12) | dbSNP |
13 | g.32370470T>A | CA483261207 | BRCA2 | c.8400T>A (p.Pro2800=) c.8031T>A (p.Pro2677=) c.867T>A (p.Pro289=) c.8408T>A (n.8408T>A) c.965T>A c.8304T>A (p.Pro2768=) | dbSNP |
13 | g.32370470T>C | CA483261205 | BRCA2 | c.8400T>C (p.Pro2800=) c.8031T>C (p.Pro2677=) c.867T>C (p.Pro289=) c.8408T>C (n.8408T>C) c.965T>C c.8304T>C (p.Pro2768=) | dbSNP |
13 | g.32370470T>G | CA483261204 | BRCA2 | c.8400T>G (p.Pro2800=) c.8031T>G (p.Pro2677=) c.867T>G (p.Pro289=) c.8408T>G (n.8408T>G) c.965T>G c.8304T>G (p.Pro2768=) | |
13 | g.32370470_32370472delinsAAAA | CA645509335 | BRCA2 | c.8400_8402delinsAAAA (p.Phe2801LysfsTer11) c.8031_8033delinsAAAA (p.Phe2678LysfsTer11) c.867_869delinsAAAA (p.Phe290LysfsTer11) c.8408_8410delinsAAAA (n.8408_8410delinsAAAA) c.965_967delinsAAAA c.8304_8306delinsAAAA (p.Phe2769LysfsTer11) | ClinVar dbSNP |
13 | g.32370470_32370473delinsTTTT | CA2082813698 | BRCA2 | c.8400_8403delinsTTTT (p.Pro2800=) c.8031_8034delinsTTTT (p.Pro2677=) c.867_870delinsTTTT (p.Pro289=) c.8408_8411delinsTTTT (n.8408_8411delinsTTTT) c.965_968delinsTTTT c.8304_8307delinsTTTT (p.Pro2768=) | |
13 | g.32370470_32370473delinsAAAAC | CA2499222329 | BRCA2 | c.8400_8403delinsAAAAC (p.Phe2801LysfsTer11) c.8031_8034delinsAAAAC (p.Phe2678LysfsTer11) c.867_870delinsAAAAC (p.Phe290LysfsTer11) c.8408_8411delinsAAAAC (n.8408_8411delinsAAAAC) c.965_968delinsAAAAC c.8304_8307delinsAAAAC (p.Phe2769LysfsTer11) | |
13 | g.32370473del | CA915946894 | BRCA2 | c.8403del (p.Pro2802LeufsTer19) c.8034del (p.Pro2679LeufsTer19) c.870del (p.Pro291LeufsTer19) c.8411del (n.8411del) c.968del c.8307del (p.Pro2770LeufsTer19) | ClinVar dbSNP |
13 | g.32370471_32370473del | CA2825002153 | BRCA2 | c.8401_8403del (p.Phe2801del) c.8032_8034del (p.Phe2678del) c.868_870del (p.Phe290del) c.8409_8411del (n.8409_8411del) c.966_968del c.8305_8307del (p.Phe2769del) | ClinVar |
13 | g.32370471T>A | CA387752493 | BRCA2 | c.8401T>A (p.Phe2801Ile) c.8032T>A (p.Phe2678Ile) c.868T>A (p.Phe290Ile) c.8409T>A (n.8409T>A) c.966T>A c.8305T>A (p.Phe2769Ile) | |
13 | g.32370471T>C | CA387752492 | BRCA2 | c.8401T>C (p.Phe2801Leu) c.8032T>C (p.Phe2678Leu) c.868T>C (p.Phe290Leu) c.8409T>C (n.8409T>C) c.966T>C c.8305T>C (p.Phe2769Leu) | ClinVar dbSNP |
13 | g.32370471T>G | CA387752494 | BRCA2 | c.8401T>G (p.Phe2801Val) c.8032T>G (p.Phe2678Val) c.868T>G (p.Phe290Val) c.8409T>G (n.8409T>G) c.966T>G c.8305T>G (p.Phe2769Val) | |
13 | g.32370471T= | CA2082813714 | BRCA2 | c.8401T= (p.Phe2801=) c.8032T= (p.Phe2678=) c.868T= (p.Phe290=) c.8409T= (n.8409T=) c.966T= c.8305T= (p.Phe2769=) | |
13 | g.32370471_32370473delinsAAAA | CA10589495 | BRCA2 | c.8401_8403delinsAAAA (p.Phe2801LysfsTer11) c.8032_8034delinsAAAA (p.Phe2678LysfsTer11) c.868_870delinsAAAA (p.Phe290LysfsTer11) c.8409_8411delinsAAAA (n.8409_8411delinsAAAA) c.966_968delinsAAAA c.8305_8307delinsAAAA (p.Phe2769LysfsTer11) | ClinVar dbSNP |
13 | g.32370471_32370472insAAAA | CA919242918 | BRCA2 | c.8401_8402insAAAA (p.Phe2801Ter) c.8032_8033insAAAA (p.Phe2678Ter) c.868_869insAAAA (p.Phe290Ter) c.8409_8410insAAAA (n.8409_8410insAAAA) c.966_967insAAAA c.8305_8306insAAAA (p.Phe2769Ter) | dbSNP |
13 | g.32370472T>A | CA387752495 | BRCA2 | c.8402T>A (p.Phe2801Tyr) c.8033T>A (p.Phe2678Tyr) c.869T>A (p.Phe290Tyr) c.8410T>A (n.8410T>A) c.967T>A c.8306T>A (p.Phe2769Tyr) | |
13 | g.32370472T>C | CA387752497 | BRCA2 | c.8402T>C (p.Phe2801Ser) c.8033T>C (p.Phe2678Ser) c.869T>C (p.Phe290Ser) c.8410T>C (n.8410T>C) c.967T>C c.8306T>C (p.Phe2769Ser) | dbSNP |
13 | g.32370472T>G | CA387752496 | BRCA2 | c.8402T>G (p.Phe2801Cys) c.8033T>G (p.Phe2678Cys) c.869T>G (p.Phe290Cys) c.8410T>G (n.8410T>G) c.967T>G c.8306T>G (p.Phe2769Cys) | |
13 | g.32370472_32370473insAAAA | CA2499222330 | BRCA2 | c.8402_8403insAAAA (p.Phe2801LeufsTer12) c.8033_8034insAAAA (p.Phe2678LeufsTer12) c.869_870insAAAA (p.Phe290LeufsTer12) c.8410_8411insAAAA (n.8410_8411insAAAA) c.967_968insAAAA c.8306_8307insAAAA (p.Phe2769LeufsTer12) | |
13 | g.32370473T>A | CA387752498 | BRCA2 | c.8403T>A (p.Phe2801Leu) c.8034T>A (p.Phe2678Leu) c.870T>A (p.Phe290Leu) c.8411T>A (n.8411T>A) c.968T>A c.8307T>A (p.Phe2769Leu) | dbSNP |
13 | g.32370473T>C | CA483261208 | BRCA2 | c.8403T>C (p.Phe2801=) c.8034T>C (p.Phe2678=) c.870T>C (p.Phe290=) c.8411T>C (n.8411T>C) c.968T>C c.8307T>C (p.Phe2769=) | ClinVar dbSNP |
13 | g.32370473T>G | CA387752499 | BRCA2 | c.8403T>G (p.Phe2801Leu) c.8034T>G (p.Phe2678Leu) c.870T>G (p.Phe290Leu) c.8411T>G (n.8411T>G) c.968T>G c.8307T>G (p.Phe2769Leu) | |
13 | g.32370474C>A | CA387752500 | BRCA2 | c.8404C>A (p.Pro2802Thr) c.8035C>A (p.Pro2679Thr) c.871C>A (p.Pro291Thr) c.8412C>A (n.8412C>A) c.969C>A c.8308C>A (p.Pro2770Thr) | dbSNP |
13 | g.32370474C= | CA2082813730 | BRCA2 | c.8404C= (p.Pro2802=) c.8035C= (p.Pro2679=) c.871C= (p.Pro291=) c.8412C= (n.8412C=) c.969C= c.8308C= (p.Pro2770=) | |
13 | g.32370474C>G | CA10579782 | BRCA2 | c.8404C>G (p.Pro2802Ala) c.8035C>G (p.Pro2679Ala) c.871C>G (p.Pro291Ala) c.8412C>G (n.8412C>G) c.969C>G c.8308C>G (p.Pro2770Ala) | ClinVar dbSNP |
13 | g.32370474C>T | CA387752501 | BRCA2 | c.8404C>T (p.Pro2802Ser) c.8035C>T (p.Pro2679Ser) c.871C>T (p.Pro291Ser) c.8412C>T (n.8412C>T) c.969C>T c.8308C>T (p.Pro2770Ser) | dbSNP |
13 | g.32370474_32370475delinsT | CA2695199690 | BRCA2 | c.8404_8405delinsT (p.Pro2802PhefsTer19) c.8035_8036delinsT (p.Pro2679PhefsTer19) c.871_872delinsT (p.Pro291PhefsTer19) c.8412_8413delinsT (n.8412_8413delinsT) c.969_970delinsT c.8308_8309delinsT (p.Pro2770PhefsTer19) | ClinVar |
13 | g.32370475del | CA2580087364 | BRCA2 | c.8405del (p.Pro2802LeufsTer19) c.8036del (p.Pro2679LeufsTer19) c.872del (p.Pro291LeufsTer19) c.8413del (n.8413del) c.970del c.8309del (p.Pro2770LeufsTer19) | ClinVar |
13 | g.32370475C>A | CA387752502 | BRCA2 | c.8405C>A (p.Pro2802His) c.8036C>A (p.Pro2679His) c.872C>A (p.Pro291His) c.8413C>A (n.8413C>A) c.970C>A c.8309C>A (p.Pro2770His) | dbSNP |
13 | g.32370475C= | CA2082813745 | BRCA2 | c.8405C= (p.Pro2802=) c.8036C= (p.Pro2679=) c.872C= (p.Pro291=) c.8413C= (n.8413C=) c.970C= c.8309C= (p.Pro2770=) | |
13 | g.32370475C>G | CA025628 | BRCA2 | c.8405C>G (p.Pro2802Arg) c.8036C>G (p.Pro2679Arg) c.872C>G (p.Pro291Arg) c.8413C>G (n.8413C>G) c.970C>G c.8309C>G (p.Pro2770Arg) | ClinVar dbSNP |
13 | g.32370475C>T | CA387752503 | BRCA2 | c.8405C>T (p.Pro2802Leu) c.8036C>T (p.Pro2679Leu) c.872C>T (p.Pro291Leu) c.8413C>T (n.8413C>T) c.970C>T c.8309C>T (p.Pro2770Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32370476T>A | CA483261209 | BRCA2 | c.8406T>A (p.Pro2802=) c.8037T>A (p.Pro2679=) c.873T>A (p.Pro291=) c.8414T>A (n.8414T>A) c.971T>A c.8310T>A (p.Pro2770=) | dbSNP |
13 | g.32370476T>C | CA483261210 | BRCA2 | c.8406T>C (p.Pro2802=) c.8037T>C (p.Pro2679=) c.873T>C (p.Pro291=) c.8414T>C (n.8414T>C) c.971T>C c.8310T>C (p.Pro2770=) | dbSNP gnomAD v4 |
13 | g.32370476T>G | CA483261211 | BRCA2 | c.8406T>G (p.Pro2802=) c.8037T>G (p.Pro2679=) c.873T>G (p.Pro291=) c.8414T>G (n.8414T>G) c.971T>G c.8310T>G (p.Pro2770=) | ClinVar |
13 | g.32370477C>A | CA387752504 | BRCA2 | c.8407C>A (p.Leu2803Met) c.8038C>A (p.Leu2680Met) c.874C>A (p.Leu292Met) c.8415C>A (n.8415C>A) c.972C>A c.8311C>A (p.Leu2771Met) | dbSNP |
13 | g.32370477C= | CA2082813750 | BRCA2 | c.8407C= (p.Leu2803=) c.8038C= (p.Leu2680=) c.874C= (p.Leu292=) c.8415C= (n.8415C=) c.972C= c.8311C= (p.Leu2771=) | |
13 | g.32370477C>G | CA387752505 | BRCA2 | c.8407C>G (p.Leu2803Val) c.8038C>G (p.Leu2680Val) c.874C>G (p.Leu292Val) c.8415C>G (n.8415C>G) c.972C>G c.8311C>G (p.Leu2771Val) | dbSNP |
13 | g.32370477C>T | CA483261212 | BRCA2 | c.8407C>T (p.Leu2803=) c.8038C>T (p.Leu2680=) c.874C>T (p.Leu292=) c.8415C>T (n.8415C>T) c.972C>T c.8311C>T (p.Leu2771=) | ClinVar dbSNP |
13 | g.32370478T>A | CA387752506 | BRCA2 | c.8408T>A (p.Leu2803Gln) c.8039T>A (p.Leu2680Gln) c.875T>A (p.Leu292Gln) c.8416T>A (n.8416T>A) c.973T>A c.8312T>A (p.Leu2771Gln) | gnomAD v4 |
13 | g.32370478T>C | CA387752507 | BRCA2 | c.8408T>C (p.Leu2803Pro) c.8039T>C (p.Leu2680Pro) c.875T>C (p.Leu292Pro) c.8416T>C (n.8416T>C) c.973T>C c.8312T>C (p.Leu2771Pro) | |
13 | g.32370478T>G | CA387752508 | BRCA2 | c.8408T>G (p.Leu2803Arg) c.8039T>G (p.Leu2680Arg) c.875T>G (p.Leu292Arg) c.8416T>G (n.8416T>G) c.973T>G c.8312T>G (p.Leu2771Arg) | ClinVar gnomAD v4 |
13 | g.32370479G>A | CA483261213 | BRCA2 | c.8409G>A (p.Leu2803=) c.8040G>A (p.Leu2680=) c.876G>A (p.Leu292=) c.8417G>A (n.8417G>A) c.974G>A c.8313G>A (p.Leu2771=) | dbSNP |
13 | g.32370479G>C | CA483261215 | BRCA2 | c.8409G>C (p.Leu2803=) c.8040G>C (p.Leu2680=) c.876G>C (p.Leu292=) c.8417G>C (n.8417G>C) c.974G>C c.8313G>C (p.Leu2771=) | ClinVar dbSNP |
13 | g.32370479G>T | CA483261216 | BRCA2 | c.8409G>T (p.Leu2803=) c.8040G>T (p.Leu2680=) c.876G>T (p.Leu292=) c.8417G>T (n.8417G>T) c.974G>T c.8313G>T (p.Leu2771=) | ClinVar dbSNP |
13 | g.32370480C>A | CA387752509 | BRCA2 | c.8410C>A (p.Pro2804Thr) c.8041C>A (p.Pro2681Thr) c.877C>A (p.Pro293Thr) c.8418C>A (n.8418C>A) c.975C>A c.8314C>A (p.Pro2772Thr) | dbSNP |
13 | g.32370480C= | CA2082813753 | BRCA2 | c.8410C= (p.Pro2804=) c.8041C= (p.Pro2681=) c.877C= (p.Pro293=) c.8418C= (n.8418C=) c.975C= c.8314C= (p.Pro2772=) | |
13 | g.32370480C>G | CA6941227 | BRCA2 | c.8410C>G (p.Pro2804Ala) c.8041C>G (p.Pro2681Ala) c.877C>G (p.Pro293Ala) c.8418C>G (n.8418C>G) c.975C>G c.8314C>G (p.Pro2772Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370480C>T | CA387752510 | BRCA2 | c.8410C>T (p.Pro2804Ser) c.8041C>T (p.Pro2681Ser) c.877C>T (p.Pro293Ser) c.8418C>T (n.8418C>T) c.975C>T c.8314C>T (p.Pro2772Ser) | dbSNP |
13 | g.32370481C>A | CA10579783 | BRCA2 | c.8411C>A (p.Pro2804His) c.8042C>A (p.Pro2681His) c.878C>A (p.Pro293His) c.8419C>A (n.8419C>A) c.976C>A c.8315C>A (p.Pro2772His) | ClinVar dbSNP |
13 | g.32370481C= | CA2082813761 | BRCA2 | c.8411C= (p.Pro2804=) c.8042C= (p.Pro2681=) c.878C= (p.Pro293=) c.8419C= (n.8419C=) c.976C= c.8315C= (p.Pro2772=) | |
13 | g.32370481C>G | CA387752511 | BRCA2 | c.8411C>G (p.Pro2804Arg) c.8042C>G (p.Pro2681Arg) c.878C>G (p.Pro293Arg) c.8419C>G (n.8419C>G) c.976C>G c.8315C>G (p.Pro2772Arg) | dbSNP |
13 | g.32370481C>T | CA16613964 | BRCA2 | c.8411C>T (p.Pro2804Leu) c.8042C>T (p.Pro2681Leu) c.878C>T (p.Pro293Leu) c.8419C>T (n.8419C>T) c.976C>T c.8315C>T (p.Pro2772Leu) | ClinVar dbSNP |
13 | g.32370482C>A | CA483261217 | BRCA2 | c.8412C>A (p.Pro2804=) c.8043C>A (p.Pro2681=) c.879C>A (p.Pro293=) c.8420C>A (n.8420C>A) c.977C>A c.8316C>A (p.Pro2772=) | dbSNP |
13 | g.32370482C= | CA2082813772 | BRCA2 | c.8412C= (p.Pro2804=) c.8043C= (p.Pro2681=) c.879C= (p.Pro293=) c.8420C= (n.8420C=) c.977C= c.8316C= (p.Pro2772=) | |
13 | g.32370482C>G | CA483261218 | BRCA2 | c.8412C>G (p.Pro2804=) c.8043C>G (p.Pro2681=) c.879C>G (p.Pro293=) c.8420C>G (n.8420C>G) c.977C>G c.8316C>G (p.Pro2772=) | dbSNP |
13 | g.32370482C>T | CA6941228 | BRCA2 | c.8412C>T (p.Pro2804=) c.8043C>T (p.Pro2681=) c.879C>T (p.Pro293=) c.8420C>T (n.8420C>T) c.977C>T c.8316C>T (p.Pro2772=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32370483T>A | CA387752512 | BRCA2 | c.8413T>A (p.Leu2805Ile) c.8044T>A (p.Leu2682Ile) c.880T>A (p.Leu294Ile) c.8421T>A (n.8421T>A) c.978T>A c.8317T>A (p.Leu2773Ile) | ClinVar dbSNP |
13 | g.32370483T>C | CA483261221 | BRCA2 | c.8413T>C (p.Leu2805=) c.8044T>C (p.Leu2682=) c.880T>C (p.Leu294=) c.8421T>C (n.8421T>C) c.978T>C c.8317T>C (p.Leu2773=) | dbSNP |
13 | g.32370483T>G | CA387752513 | BRCA2 | c.8413T>G (p.Leu2805Val) c.8044T>G (p.Leu2682Val) c.880T>G (p.Leu294Val) c.8421T>G (n.8421T>G) c.978T>G c.8317T>G (p.Leu2773Val) | |
13 | g.32370483T= | CA2082813779 | BRCA2 | c.8413T= (p.Leu2805=) c.8044T= (p.Leu2682=) c.880T= (p.Leu294=) c.8421T= (n.8421T=) c.978T= c.8317T= (p.Leu2773=) | |
13 | g.32370484dup | CA2499222331 | BRCA2 | c.8414dup (p.Leu2805PhefsTer7) c.8045dup (p.Leu2682PhefsTer7) c.881dup (p.Leu294PhefsTer7) c.8422dup (n.8422dup) c.979dup c.8318dup (p.Leu2773PhefsTer7) | ClinVar |
13 | g.32370483_32370486delinsTTAT | CA2082813778 | BRCA2 | c.8413_8416delinsTTAT (p.Leu2805=) c.8044_8047delinsTTAT (p.Leu2682=) c.880_883delinsTTAT (p.Leu294=) c.8421_8424delinsTTAT (n.8421_8424delinsTTAT) c.978_981delinsTTAT c.8317_8320delinsTTAT (p.Leu2773=) | |
13 | g.32370484T>A | CA387752514 | BRCA2 | c.8414T>A (p.Leu2805Ter) c.8045T>A (p.Leu2682Ter) c.881T>A (p.Leu294Ter) c.8422T>A (n.8422T>A) c.979T>A c.8318T>A (p.Leu2773Ter) | |
13 | g.32370484T>C | CA025630 | BRCA2 | c.8414T>C (p.Leu2805Ser) c.8045T>C (p.Leu2682Ser) c.881T>C (p.Leu294Ser) c.8422T>C (n.8422T>C) c.979T>C c.8318T>C (p.Leu2773Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370484T>G | CA387752515 | BRCA2 | c.8414T>G (p.Leu2805Ter) c.8045T>G (p.Leu2682Ter) c.881T>G (p.Leu294Ter) c.8422T>G (n.8422T>G) c.979T>G c.8318T>G (p.Leu2773Ter) | |
13 | g.32370484T= | CA2082813796 | BRCA2 | c.8414T= (p.Leu2805=) c.8045T= (p.Leu2682=) c.881T= (p.Leu294=) c.8422T= (n.8422T=) c.979T= c.8318T= (p.Leu2773=) | |
13 | g.32370484_32370486delinsC | CA025629 | BRCA2 | c.8414_8416delinsC (p.Leu2805SerfsTer6) c.8045_8047delinsC (p.Leu2682SerfsTer6) c.881_883delinsC (p.Leu294SerfsTer6) c.8422_8424delinsC (n.8422_8424delinsC) c.979_981delinsC c.8318_8320delinsC (p.Leu2773SerfsTer6) | ClinVar dbSNP |
13 | g.32370485_32370486del | CA025631 | BRCA2 | c.8415_8416del (p.Leu2805PhefsTer6) c.8046_8047del (p.Leu2682PhefsTer6) c.882_883del (p.Leu294PhefsTer6) c.8423_8424del (n.8423_8424del) c.980_981del c.8319_8320del (p.Leu2773PhefsTer6) | ClinVar dbSNP gnomAD v4 |
13 | g.32370484_32370487delinsTATC | CA2082813795 | BRCA2 | c.8414_8417delinsTATC (p.Leu2805=) c.8045_8048delinsTATC (p.Leu2682=) c.881_884delinsTATC (p.Leu294=) c.8422_8425delinsTATC (n.8422_8425delinsTATC) c.979_982delinsTATC c.8318_8321delinsTATC (p.Leu2773=) | |
13 | g.32370485A>C | CA387752516 | BRCA2 | c.8415A>C (p.Leu2805Phe) c.8046A>C (p.Leu2682Phe) c.882A>C (p.Leu294Phe) c.8423A>C (n.8423A>C) c.980A>C c.8319A>C (p.Leu2773Phe) | |
13 | g.32370485A>G | CA483261222 | BRCA2 | c.8415A>G (p.Leu2805=) c.8046A>G (p.Leu2682=) c.882A>G (p.Leu294=) c.8423A>G (n.8423A>G) c.980A>G c.8319A>G (p.Leu2773=) | ClinVar dbSNP |
13 | g.32370485A>T | CA387752517 | BRCA2 | c.8415A>T (p.Leu2805Phe) c.8046A>T (p.Leu2682Phe) c.882A>T (p.Leu294Phe) c.8423A>T (n.8423A>T) c.980A>T c.8319A>T (p.Leu2773Phe) | dbSNP |
13 | g.32370485dup | CA025632 | BRCA2 | c.8415dup (p.Ser2806IlefsTer6) c.8046dup (p.Ser2683IlefsTer6) c.882dup (p.Ser295IlefsTer6) c.8423dup (n.8423dup) c.980dup c.8319dup (p.Ser2774IlefsTer6) | ClinVar dbSNP |
13 | g.32370485_32370486delinsAT | CA2082813815 | BRCA2 | c.8415_8416delinsAT (p.Leu2805=) c.8046_8047delinsAT (p.Leu2682=) c.882_883delinsAT (p.Leu294=) c.8423_8424delinsAT (n.8423_8424delinsAT) c.980_981delinsAT c.8319_8320delinsAT (p.Leu2773=) | |
13 | g.32370488_32370490del | CA16614010 | BRCA2 | c.8418_8420del (p.Ser2807del) c.8049_8051del (p.Ser2684del) c.885_887del (p.Ser296del) c.8426_8428del (n.8426_8428del) c.983_985del c.8322_8324del (p.Ser2775del) | ClinVar dbSNP |
13 | g.32370485_32370495delinsATCATCGCTTT | CA2082813814 | BRCA2 | c.8415_8425delinsATCATCGCTTT (p.Leu2805=) c.8046_8056delinsATCATCGCTTT (p.Leu2682=) c.882_892delinsATCATCGCTTT (p.Leu294=) c.8423_8433delinsATCATCGCTTT (n.8423_8433delinsATCATCGCTTT) c.980_990delinsATCATCGCTTT c.8319_8329delinsATCATCGCTTT (p.Leu2773=) | |
13 | g.32370486del | CA891843895 | BRCA2 | c.8416del (p.Ser2806HisfsTer15) c.8047del (p.Ser2683HisfsTer15) c.883del (p.Ser295HisfsTer15) c.8424del (n.8424del) c.981del c.8320del (p.Ser2774HisfsTer15) | ClinVar dbSNP |
13 | g.32370486T>A | CA387752519 | BRCA2 | c.8416T>A (p.Ser2806Thr) c.8047T>A (p.Ser2683Thr) c.883T>A (p.Ser295Thr) c.8424T>A (n.8424T>A) c.981T>A c.8320T>A (p.Ser2774Thr) | dbSNP |
13 | g.32370486T>C | CA387752518 | BRCA2 | c.8416T>C (p.Ser2806Pro) c.8047T>C (p.Ser2683Pro) c.883T>C (p.Ser295Pro) c.8424T>C (n.8424T>C) c.981T>C c.8320T>C (p.Ser2774Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32370486T>G | CA387752520 | BRCA2 | c.8416T>G (p.Ser2806Ala) c.8047T>G (p.Ser2683Ala) c.883T>G (p.Ser295Ala) c.8424T>G (n.8424T>G) c.981T>G c.8320T>G (p.Ser2774Ala) | |
13 | g.32370486T= | CA2082813829 | BRCA2 | c.8416T= (p.Ser2806=) c.8047T= (p.Ser2683=) c.883T= (p.Ser295=) c.8424T= (n.8424T=) c.981T= c.8320T= (p.Ser2774=) | |
13 | g.32370489_32370498del | CA354140 | BRCA2 | c.8419_8428del (p.Ser2807ValfsTer11) c.8050_8059del (p.Ser2684ValfsTer11) c.886_895del (p.Ser296ValfsTer11) c.8427_8436del (n.8427_8436del) c.984_993del c.8323_8332del (p.Ser2775ValfsTer11) | ClinVar dbSNP |
13 | g.32370487C>A | CA387752521 | BRCA2 | c.8417C>A (p.Ser2806Ter) c.8048C>A (p.Ser2683Ter) c.884C>A (p.Ser295Ter) c.8425C>A (n.8425C>A) c.982C>A c.8321C>A (p.Ser2774Ter) | ClinVar dbSNP |
13 | g.32370487C= | CA2082813838 | BRCA2 | c.8417C= (p.Ser2806=) c.8048C= (p.Ser2683=) c.884C= (p.Ser295=) c.8425C= (n.8425C=) c.982C= c.8321C= (p.Ser2774=) | |
13 | g.32370487C>G | CA387752522 | BRCA2 | c.8417C>G (p.Ser2806Ter) c.8048C>G (p.Ser2683Ter) c.884C>G (p.Ser295Ter) c.8425C>G (n.8425C>G) c.982C>G c.8321C>G (p.Ser2774Ter) | ClinVar dbSNP |
13 | g.32370487C>T | CA025633 | BRCA2 | c.8417C>T (p.Ser2806Leu) c.8048C>T (p.Ser2683Leu) c.884C>T (p.Ser295Leu) c.8425C>T (n.8425C>T) c.982C>T c.8321C>T (p.Ser2774Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370488A= | CA2082813848 | BRCA2 | c.8418A= (p.Ser2806=) c.8049A= (p.Ser2683=) c.885A= (p.Ser295=) c.8426A= (n.8426A=) c.983A= c.8322A= (p.Ser2774=) | |
13 | g.32370488A>C | CA483261227 | BRCA2 | c.8418A>C (p.Ser2806=) c.8049A>C (p.Ser2683=) c.885A>C (p.Ser295=) c.8426A>C (n.8426A>C) c.983A>C c.8322A>C (p.Ser2774=) | ClinVar |
13 | g.32370488A>G | CA483261228 | BRCA2 | c.8418A>G (p.Ser2806=) c.8049A>G (p.Ser2683=) c.885A>G (p.Ser295=) c.8426A>G (n.8426A>G) c.983A>G c.8322A>G (p.Ser2774=) | ClinVar dbSNP |
13 | g.32370488A>T | CA483261229 | BRCA2 | c.8418A>T (p.Ser2806=) c.8049A>T (p.Ser2683=) c.885A>T (p.Ser295=) c.8426A>T (n.8426A>T) c.983A>T c.8322A>T (p.Ser2774=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370489T>A | CA387752523 | BRCA2 | c.8419T>A (p.Ser2807Thr) c.8050T>A (p.Ser2684Thr) c.886T>A (p.Ser296Thr) c.8427T>A (n.8427T>A) c.984T>A c.8323T>A (p.Ser2775Thr) | |
13 | g.32370489T>C | CA387752524 | BRCA2 | c.8419T>C (p.Ser2807Pro) c.8050T>C (p.Ser2684Pro) c.886T>C (p.Ser296Pro) c.8427T>C (n.8427T>C) c.984T>C c.8323T>C (p.Ser2775Pro) | ClinVar dbSNP |
13 | g.32370489T>G | CA387752525 | BRCA2 | c.8419T>G (p.Ser2807Ala) c.8050T>G (p.Ser2684Ala) c.886T>G (p.Ser296Ala) c.8427T>G (n.8427T>G) c.984T>G c.8323T>G (p.Ser2775Ala) | |
13 | g.32370489T= | CA2082813857 | BRCA2 | c.8419T= (p.Ser2807=) c.8050T= (p.Ser2684=) c.886T= (p.Ser296=) c.8427T= (n.8427T=) c.984T= c.8323T= (p.Ser2775=) | |
13 | g.32370490C>A | CA336160 | BRCA2 | c.8420C>A (p.Ser2807Ter) c.8051C>A (p.Ser2684Ter) c.887C>A (p.Ser296Ter) c.8428C>A (n.8428C>A) c.985C>A c.8324C>A (p.Ser2775Ter) | ClinVar dbSNP |
13 | g.32370490C= | CA2082813876 | BRCA2 | c.8420C= (p.Ser2807=) c.8051C= (p.Ser2684=) c.887C= (p.Ser296=) c.8428C= (n.8428C=) c.985C= c.8324C= (p.Ser2775=) | |
13 | g.32370490C>G | CA387752526 | BRCA2 | c.8420C>G (p.Ser2807Trp) c.8051C>G (p.Ser2684Trp) c.887C>G (p.Ser296Trp) c.8428C>G (n.8428C>G) c.985C>G c.8324C>G (p.Ser2775Trp) | dbSNP |
13 | g.32370490C>T | CA025635 | BRCA2 | c.8420C>T (p.Ser2807Leu) c.8051C>T (p.Ser2684Leu) c.887C>T (p.Ser296Leu) c.8428C>T (n.8428C>T) c.985C>T c.8324C>T (p.Ser2775Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370491G>A | CA025636 | BRCA2 | c.8421G>A (p.Ser2807=) c.8052G>A (p.Ser2684=) c.888G>A (p.Ser296=) c.8429G>A (n.8429G>A) c.986G>A c.8325G>A (p.Ser2775=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32370491G>C | CA483261232 | BRCA2 | c.8421G>C (p.Ser2807=) c.8052G>C (p.Ser2684=) c.888G>C (p.Ser296=) c.8429G>C (n.8429G>C) c.986G>C c.8325G>C (p.Ser2775=) | ClinVar dbSNP |
13 | g.32370491G= | CA2082813888 | BRCA2 | c.8421G= (p.Ser2807=) c.8052G= (p.Ser2684=) c.888G= (p.Ser296=) c.8429G= (n.8429G=) c.986G= c.8325G= (p.Ser2775=) | |
13 | g.32370491G>T | CA483261233 | BRCA2 | c.8421G>T (p.Ser2807=) c.8052G>T (p.Ser2684=) c.888G>T (p.Ser296=) c.8429G>T (n.8429G>T) c.986G>T c.8325G>T (p.Ser2775=) | dbSNP |
13 | g.32370492C>A | CA387752528 | BRCA2 | c.8422C>A (p.Leu2808Ile) c.8053C>A (p.Leu2685Ile) c.889C>A (p.Leu297Ile) c.8430C>A (n.8430C>A) c.987C>A c.8326C>A (p.Leu2776Ile) | |
13 | g.32370492C= | CA2082813913 | BRCA2 | c.8422C= (p.Leu2808=) c.8053C= (p.Leu2685=) c.889C= (p.Leu297=) c.8430C= (n.8430C=) c.987C= c.8326C= (p.Leu2776=) | |
13 | g.32370492C>G | CA025637 | BRCA2 | c.8422C>G (p.Leu2808Val) c.8053C>G (p.Leu2685Val) c.889C>G (p.Leu297Val) c.8430C>G (n.8430C>G) c.987C>G c.8326C>G (p.Leu2776Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370492C>T | CA387752527 | BRCA2 | c.8422C>T (p.Leu2808Phe) c.8053C>T (p.Leu2685Phe) c.889C>T (p.Leu297Phe) c.8430C>T (n.8430C>T) c.987C>T c.8326C>T (p.Leu2776Phe) | COSMIC COSMIC |
13 | g.32370492_32370493delinsCT | CA2082813914 | BRCA2 | c.8422_8423delinsCT (p.Leu2808=) c.8053_8054delinsCT (p.Leu2685=) c.889_890delinsCT (p.Leu297=) c.8430_8431delinsCT (n.8430_8431delinsCT) c.987_988delinsCT c.8326_8327delinsCT (p.Leu2776=) | |
13 | g.32370492_32370497delinsCTTTTC | CA2082813915 | BRCA2 | c.8422_8427delinsCTTTTC (p.Leu2808=) c.8053_8058delinsCTTTTC (p.Leu2685=) c.889_894delinsCTTTTC (p.Leu297=) c.8430_8435delinsCTTTTC (n.8430_8435delinsCTTTTC) c.987_992delinsCTTTTC c.8326_8331delinsCTTTTC (p.Leu2776=) | |
13 | g.32370493T>A | CA387752529 | BRCA2 | c.8423T>A (p.Leu2808His) c.8054T>A (p.Leu2685His) c.890T>A (p.Leu297His) c.8431T>A (n.8431T>A) c.988T>A c.8327T>A (p.Leu2776His) | dbSNP |
13 | g.32370493T>C | CA025638 | BRCA2 | c.8423T>C (p.Leu2808Pro) c.8054T>C (p.Leu2685Pro) c.890T>C (p.Leu297Pro) c.8431T>C (n.8431T>C) c.988T>C c.8327T>C (p.Leu2776Pro) | ClinVar dbSNP |
13 | g.32370493T>G | CA387752530 | BRCA2 | c.8423T>G (p.Leu2808Arg) c.8054T>G (p.Leu2685Arg) c.890T>G (p.Leu297Arg) c.8431T>G (n.8431T>G) c.988T>G c.8327T>G (p.Leu2776Arg) | |
13 | g.32370493T= | CA2082813931 | BRCA2 | c.8423T= (p.Leu2808=) c.8054T= (p.Leu2685=) c.890T= (p.Leu297=) c.8431T= (n.8431T=) c.988T= c.8327T= (p.Leu2776=) | |
13 | g.32370496dup | CA16613965 | BRCA2 | c.8426dup (p.Ser2810GlnfsTer2) c.8057dup (p.Ser2687GlnfsTer2) c.893dup (p.Ser299GlnfsTer2) c.8434dup (n.8434dup) c.991dup c.8330dup (p.Ser2778GlnfsTer2) | ClinVar dbSNP |
13 | g.32370496del | CA891843896 | BRCA2 | c.8426del (p.Phe2809SerfsTer12) c.8057del (p.Phe2686SerfsTer12) c.893del (p.Phe298SerfsTer12) c.8434del (n.8434del) c.991del c.8330del (p.Phe2777SerfsTer12) | ClinVar dbSNP |
13 | g.32370493_32370497delinsA | CA2082813938 | BRCA2 | c.8423_8427delinsA (p.Leu2808GlnfsTer12) c.8054_8058delinsA (p.Leu2685GlnfsTer12) c.890_894delinsA (p.Leu297GlnfsTer12) c.8431_8435delinsA (n.8431_8435delinsA) c.988_992delinsA c.8327_8331delinsA (p.Leu2776GlnfsTer12) | ClinVar dbSNP |
13 | g.32370494T>A | CA483261238 | BRCA2 | c.8424T>A (p.Leu2808=) c.8055T>A (p.Leu2685=) c.891T>A (p.Leu297=) c.8432T>A (n.8432T>A) c.989T>A c.8328T>A (p.Leu2776=) | |
13 | g.32370494T>C | CA10579784 | BRCA2 | c.8424T>C (p.Leu2808=) c.8055T>C (p.Leu2685=) c.891T>C (p.Leu297=) c.8432T>C (n.8432T>C) c.989T>C c.8328T>C (p.Leu2776=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370494T>G | CA483261237 | BRCA2 | c.8424T>G (p.Leu2808=) c.8055T>G (p.Leu2685=) c.891T>G (p.Leu297=) c.8432T>G (n.8432T>G) c.989T>G c.8328T>G (p.Leu2776=) | |
13 | g.32370494T= | CA2082813946 | BRCA2 | c.8424T= (p.Leu2808=) c.8055T= (p.Leu2685=) c.891T= (p.Leu297=) c.8432T= (n.8432T=) c.989T= c.8328T= (p.Leu2776=) | |
13 | g.32370495T>A | CA387752531 | BRCA2 | c.8425T>A (p.Phe2809Ile) c.8056T>A (p.Phe2686Ile) c.892T>A (p.Phe298Ile) c.8433T>A (n.8433T>A) c.990T>A c.8329T>A (p.Phe2777Ile) | dbSNP |
13 | g.32370495T>C | CA387752532 | BRCA2 | c.8425T>C (p.Phe2809Leu) c.8056T>C (p.Phe2686Leu) c.892T>C (p.Phe298Leu) c.8433T>C (n.8433T>C) c.990T>C c.8329T>C (p.Phe2777Leu) | dbSNP |
13 | g.32370495T>G | CA387752533 | BRCA2 | c.8425T>G (p.Phe2809Val) c.8056T>G (p.Phe2686Val) c.892T>G (p.Phe298Val) c.8433T>G (n.8433T>G) c.990T>G c.8329T>G (p.Phe2777Val) | |
13 | g.32370496T>A | CA387752534 | BRCA2 | c.8426T>A (p.Phe2809Tyr) c.8057T>A (p.Phe2686Tyr) c.893T>A (p.Phe298Tyr) c.8434T>A (n.8434T>A) c.991T>A c.8330T>A (p.Phe2777Tyr) | |
13 | g.32370496T>C | CA387752535 | BRCA2 | c.8426T>C (p.Phe2809Ser) c.8057T>C (p.Phe2686Ser) c.893T>C (p.Phe298Ser) c.8434T>C (n.8434T>C) c.991T>C c.8330T>C (p.Phe2777Ser) | dbSNP |
13 | g.32370496T>G | CA387752536 | BRCA2 | c.8426T>G (p.Phe2809Cys) c.8057T>G (p.Phe2686Cys) c.893T>G (p.Phe298Cys) c.8434T>G (n.8434T>G) c.991T>G c.8330T>G (p.Phe2777Cys) | |
13 | g.32370497C>A | CA387752537 | BRCA2 | c.8427C>A (p.Phe2809Leu) c.8058C>A (p.Phe2686Leu) c.894C>A (p.Phe298Leu) c.8435C>A (n.8435C>A) c.992C>A c.8331C>A (p.Phe2777Leu) | dbSNP |
13 | g.32370497C= | CA2082813958 | BRCA2 | c.8427C= (p.Phe2809=) c.8058C= (p.Phe2686=) c.894C= (p.Phe298=) c.8435C= (n.8435C=) c.992C= c.8331C= (p.Phe2777=) | |
13 | g.32370497C>G | CA387752538 | BRCA2 | c.8427C>G (p.Phe2809Leu) c.8058C>G (p.Phe2686Leu) c.894C>G (p.Phe298Leu) c.8435C>G (n.8435C>G) c.992C>G c.8331C>G (p.Phe2777Leu) | ClinVar dbSNP |
13 | g.32370497C>T | CA025639 | BRCA2 | c.8427C>T (p.Phe2809=) c.8058C>T (p.Phe2686=) c.894C>T (p.Phe298=) c.8435C>T (n.8435C>T) c.992C>T c.8331C>T (p.Phe2777=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370498A= | CA2082813968 | BRCA2 | c.8428A= (p.Ser2810=) c.8059A= (p.Ser2687=) c.895A= (p.Ser299=) c.8436A= (n.8436A=) c.993A= c.8332A= (p.Ser2778=) | |
13 | g.32370498A>C | CA025640 | BRCA2 | c.8428A>C (p.Ser2810Arg) c.8059A>C (p.Ser2687Arg) c.895A>C (p.Ser299Arg) c.8436A>C (n.8436A>C) c.993A>C c.8332A>C (p.Ser2778Arg) | ClinVar dbSNP |
13 | g.32370498A>G | CA025641 | BRCA2 | c.8428A>G (p.Ser2810Gly) c.8059A>G (p.Ser2687Gly) c.895A>G (p.Ser299Gly) c.8436A>G (n.8436A>G) c.993A>G c.8332A>G (p.Ser2778Gly) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
13 | g.32370498A>T | CA387752539 | BRCA2 | c.8428A>T (p.Ser2810Cys) c.8059A>T (p.Ser2687Cys) c.895A>T (p.Ser299Cys) c.8436A>T (n.8436A>T) c.993A>T c.8332A>T (p.Ser2778Cys) | ClinVar dbSNP |
13 | g.32370499G>A | CA387752542 | BRCA2 | c.8429G>A (p.Ser2810Asn) c.8060G>A (p.Ser2687Asn) c.896G>A (p.Ser299Asn) c.8437G>A (n.8437G>A) c.994G>A c.8333G>A (p.Ser2778Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.32370499G>C | CA387752540 | BRCA2 | c.8429G>C (p.Ser2810Thr) c.8060G>C (p.Ser2687Thr) c.896G>C (p.Ser299Thr) c.8437G>C (n.8437G>C) c.994G>C c.8333G>C (p.Ser2778Thr) | ClinVar dbSNP |
13 | g.32370499G= | CA2082813991 | BRCA2 | c.8429G= (p.Ser2810=) c.8060G= (p.Ser2687=) c.896G= (p.Ser299=) c.8437G= (n.8437G=) c.994G= c.8333G= (p.Ser2778=) | |
13 | g.32370499G>T | CA387752541 | BRCA2 | c.8429G>T (p.Ser2810Ile) c.8060G>T (p.Ser2687Ile) c.896G>T (p.Ser299Ile) c.8437G>T (n.8437G>T) c.994G>T c.8333G>T (p.Ser2778Ile) | |
13 | g.32370500T>A | CA387752543 | BRCA2 | c.8430T>A (p.Ser2810Arg) c.8061T>A (p.Ser2687Arg) c.897T>A (p.Ser299Arg) c.8438T>A (n.8438T>A) c.995T>A c.8334T>A (p.Ser2778Arg) | dbSNP |
13 | g.32370500T>C | CA483261241 | BRCA2 | c.8430T>C (p.Ser2810=) c.8061T>C (p.Ser2687=) c.897T>C (p.Ser299=) c.8438T>C (n.8438T>C) c.995T>C c.8334T>C (p.Ser2778=) | dbSNP gnomAD v4 |
13 | g.32370500T>G | CA10579785 | BRCA2 | c.8430T>G (p.Ser2810Arg) c.8061T>G (p.Ser2687Arg) c.897T>G (p.Ser299Arg) c.8438T>G (n.8438T>G) c.995T>G c.8334T>G (p.Ser2778Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370500T= | CA2082813996 | BRCA2 | c.8430T= (p.Ser2810=) c.8061T= (p.Ser2687=) c.897T= (p.Ser299=) c.8438T= (n.8438T=) c.995T= c.8334T= (p.Ser2778=) | |
13 | g.32370500_32370507delinsTGATGGAG | CA2082813998 | BRCA2 | c.8430_8437delinsTGATGGAG (p.Ser2810=) c.8061_8068delinsTGATGGAG (p.Ser2687=) c.897_904delinsTGATGGAG (p.Ser299=) c.8438_8445delinsTGATGGAG (n.8438_8445delinsTGATGGAG) c.995_1002delinsTGATGGAG c.8334_8341delinsTGATGGAG (p.Ser2778=) | |
13 | g.32370501G>A | CA387752544 | BRCA2 | c.8431G>A (p.Asp2811Asn) c.8062G>A (p.Asp2688Asn) c.898G>A (p.Asp300Asn) c.8439G>A (n.8439G>A) c.996G>A c.8335G>A (p.Asp2779Asn) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32370501G>C | CA387752545 | BRCA2 | c.8431G>C (p.Asp2811His) c.8062G>C (p.Asp2688His) c.898G>C (p.Asp300His) c.8439G>C (n.8439G>C) c.996G>C c.8335G>C (p.Asp2779His) | ClinVar dbSNP |
13 | g.32370501G= | CA2082814008 | BRCA2 | c.8431G= (p.Asp2811=) c.8062G= (p.Asp2688=) c.898G= (p.Asp300=) c.8439G= (n.8439G=) c.996G= c.8335G= (p.Asp2779=) | |
13 | g.32370501G>T | CA387752546 | BRCA2 | c.8431G>T (p.Asp2811Tyr) c.8062G>T (p.Asp2688Tyr) c.898G>T (p.Asp300Tyr) c.8439G>T (n.8439G>T) c.996G>T c.8335G>T (p.Asp2779Tyr) | |
13 | g.32370503_32370509del | CA1139663161 | BRCA2 | c.8433_8439del (p.Asp2811GlufsTer8) c.8064_8070del (p.Asp2688GlufsTer8) c.900_906del (p.Asp300GlufsTer8) c.8441_8447del (n.8441_8447del) c.998_1004del c.8337_8343del (p.Asp2779GlufsTer8) | ClinVar dbSNP |
13 | g.32370502A= | CA2082814014 | BRCA2 | c.8432A= (p.Asp2811=) c.8063A= (p.Asp2688=) c.899A= (p.Asp300=) c.8440A= (n.8440A=) c.997A= c.8336A= (p.Asp2779=) | |
13 | g.32370502A>C | CA387752547 | BRCA2 | c.8432A>C (p.Asp2811Ala) c.8063A>C (p.Asp2688Ala) c.899A>C (p.Asp300Ala) c.8440A>C (n.8440A>C) c.997A>C c.8336A>C (p.Asp2779Ala) | |
13 | g.32370502A>G | CA025642 | BRCA2 | c.8432A>G (p.Asp2811Gly) c.8063A>G (p.Asp2688Gly) c.899A>G (p.Asp300Gly) c.8440A>G (n.8440A>G) c.997A>G c.8336A>G (p.Asp2779Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32370502A>T | CA387752548 | BRCA2 | c.8432A>T (p.Asp2811Val) c.8063A>T (p.Asp2688Val) c.899A>T (p.Asp300Val) c.8440A>T (n.8440A>T) c.997A>T c.8336A>T (p.Asp2779Val) | dbSNP |
13 | g.32370503_32371631dup | CA2580087371 | BRCA2 | c.8433_8632+531dup c.8064_8263+531dup c.900_1099+531dup c.8441_8640+531dup c.998_1197+531dup c.8337_8536+531dup | ClinVar |
13 | g.32370503T>A | CA387752549 | BRCA2 | c.8433T>A (p.Asp2811Glu) c.8064T>A (p.Asp2688Glu) c.900T>A (p.Asp300Glu) c.8441T>A (n.8441T>A) c.998T>A c.8337T>A (p.Asp2779Glu) | |
13 | g.32370503T>C | CA483261243 | BRCA2 | c.8433T>C (p.Asp2811=) c.8064T>C (p.Asp2688=) c.900T>C (p.Asp300=) c.8441T>C (n.8441T>C) c.998T>C c.8337T>C (p.Asp2779=) | gnomAD v4 |
13 | g.32370503T>G | CA387752550 | BRCA2 | c.8433T>G (p.Asp2811Glu) c.8064T>G (p.Asp2688Glu) c.900T>G (p.Asp300Glu) c.8441T>G (n.8441T>G) c.998T>G c.8337T>G (p.Asp2779Glu) | |
13 | g.32370503T= | CA2082814022 | BRCA2 | c.8433T= (p.Asp2811=) c.8064T= (p.Asp2688=) c.900T= (p.Asp300=) c.8441T= (n.8441T=) c.998T= c.8337T= (p.Asp2779=) | |
13 | g.32370503_32370506delinsTGGA | CA2082814021 | BRCA2 | c.8433_8436delinsTGGA (p.Asp2811=) c.8064_8067delinsTGGA (p.Asp2688=) c.900_903delinsTGGA (p.Asp300=) c.8441_8444delinsTGGA (n.8441_8444delinsTGGA) c.998_1001delinsTGGA c.8337_8340delinsTGGA (p.Asp2779=) | |
13 | g.32370503_32370504insC | CA658823581 | BRCA2 | c.8433_8434insC (p.Gly2812ArgfsTer8) c.8064_8065insC (p.Gly2689ArgfsTer8) c.900_901insC (p.Gly301ArgfsTer8) c.8441_8442insC (n.8441_8442insC) c.998_999insC c.8337_8338insC (p.Gly2780ArgfsTer8) | ClinVar dbSNP |
13 | g.32370504G>A | CA387752553 | BRCA2 | c.8434G>A (p.Gly2812Arg) c.8065G>A (p.Gly2689Arg) c.901G>A (p.Gly301Arg) c.8442G>A (n.8442G>A) c.999G>A c.8338G>A (p.Gly2780Arg) | ClinVar dbSNP |
13 | g.32370504G>C | CA387752552 | BRCA2 | c.8434G>C (p.Gly2812Arg) c.8065G>C (p.Gly2689Arg) c.901G>C (p.Gly301Arg) c.8442G>C (n.8442G>C) c.999G>C c.8338G>C (p.Gly2780Arg) | dbSNP |
13 | g.32370504G= | CA2082814034 | BRCA2 | c.8434G= (p.Gly2812=) c.8065G= (p.Gly2689=) c.901G= (p.Gly301=) c.8442G= (n.8442G=) c.999G= c.8338G= (p.Gly2780=) | |
13 | g.32370504G>T | CA387752551 | BRCA2 | c.8434G>T (p.Gly2812Ter) c.8065G>T (p.Gly2689Ter) c.901G>T (p.Gly301Ter) c.8442G>T (n.8442G>T) c.999G>T c.8338G>T (p.Gly2780Ter) | dbSNP |
13 | g.32370507_32370509del | CA025645 | BRCA2 | c.8437_8439del (p.Gly2813del) c.8068_8070del (p.Gly2690del) c.904_906del (p.Gly302del) c.8445_8447del (n.8445_8447del) c.1002_1004del c.8341_8343del (p.Gly2781del) | ClinVar dbSNP |
13 | g.32370504_32370505insC | CA10589496 | BRCA2 | c.8434_8435insC (p.Gly2812AlafsTer8) c.8065_8066insC (p.Gly2689AlafsTer8) c.901_902insC (p.Gly301AlafsTer8) c.8442_8443insC (n.8442_8443insC) c.999_1000insC c.8338_8339insC (p.Gly2780AlafsTer8) | ClinVar dbSNP |
13 | g.32370504_32370505insTT | CA2695217931 | BRCA2 | c.8434_8435insTT (p.Gly2812ValfsTer10) c.8065_8066insTT (p.Gly2689ValfsTer10) c.901_902insTT (p.Gly301ValfsTer10) c.8442_8443insTT (n.8442_8443insTT) c.999_1000insTT c.8338_8339insTT (p.Gly2780ValfsTer10) | ClinVar |
13 | g.32370505G>A | CA025643 | BRCA2 | c.8435G>A (p.Gly2812Glu) c.8066G>A (p.Gly2689Glu) c.902G>A (p.Gly301Glu) c.8443G>A (n.8443G>A) c.1000G>A c.8339G>A (p.Gly2780Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370505G>C | CA387752554 | BRCA2 | c.8435G>C (p.Gly2812Ala) c.8066G>C (p.Gly2689Ala) c.902G>C (p.Gly301Ala) c.8443G>C (n.8443G>C) c.1000G>C c.8339G>C (p.Gly2780Ala) | dbSNP |
13 | g.32370505G= | CA2082814046 | BRCA2 | c.8435G= (p.Gly2812=) c.8066G= (p.Gly2689=) c.902G= (p.Gly301=) c.8443G= (n.8443G=) c.1000G= c.8339G= (p.Gly2780=) | |
13 | g.32370505G>T | CA387752555 | BRCA2 | c.8435G>T (p.Gly2812Val) c.8066G>T (p.Gly2689Val) c.902G>T (p.Gly301Val) c.8443G>T (n.8443G>T) c.1000G>T c.8339G>T (p.Gly2780Val) | dbSNP |
13 | g.32370506A>C | CA483261246 | BRCA2 | c.8436A>C (p.Gly2812=) c.8067A>C (p.Gly2689=) c.903A>C (p.Gly301=) c.8444A>C (n.8444A>C) c.1001A>C c.8340A>C (p.Gly2780=) | |
13 | g.32370506A>G | CA483261247 | BRCA2 | c.8436A>G (p.Gly2812=) c.8067A>G (p.Gly2689=) c.903A>G (p.Gly301=) c.8444A>G (n.8444A>G) c.1001A>G c.8340A>G (p.Gly2780=) | dbSNP |
13 | g.32370506A>T | CA483261248 | BRCA2 | c.8436A>T (p.Gly2812=) c.8067A>T (p.Gly2689=) c.903A>T (p.Gly301=) c.8444A>T (n.8444A>T) c.1001A>T c.8340A>T (p.Gly2780=) | dbSNP |
13 | g.32370506dup | CA025644 | BRCA2 | c.8436dup (p.Gly2813ArgfsTer7) c.8067dup (p.Gly2690ArgfsTer7) c.903dup (p.Gly302ArgfsTer7) c.8444dup (n.8444dup) c.1001dup c.8340dup (p.Gly2781ArgfsTer7) | ClinVar dbSNP |
13 | g.32370506_32370507delinsAG | CA2082814057 | BRCA2 | c.8436_8437delinsAG (p.Gly2812=) c.8067_8068delinsAG (p.Gly2689=) c.903_904delinsAG (p.Gly301=) c.8444_8445delinsAG (n.8444_8445delinsAG) c.1001_1002delinsAG c.8340_8341delinsAG (p.Gly2780=) | |
13 | g.32370507G>A | CA387752556 | BRCA2 | c.8437G>A (p.Gly2813Arg) c.8068G>A (p.Gly2690Arg) c.904G>A (p.Gly302Arg) c.8445G>A (n.8445G>A) c.1002G>A c.8341G>A (p.Gly2781Arg) | dbSNP gnomAD v4 |
13 | g.32370507G>C | CA387752557 | BRCA2 | c.8437G>C (p.Gly2813Arg) c.8068G>C (p.Gly2690Arg) c.904G>C (p.Gly302Arg) c.8445G>C (n.8445G>C) c.1002G>C c.8341G>C (p.Gly2781Arg) | |
13 | g.32370507G>T | CA387752558 | BRCA2 | c.8437G>T (p.Gly2813Ter) c.8068G>T (p.Gly2690Ter) c.904G>T (p.Gly302Ter) c.8445G>T (n.8445G>T) c.1002G>T c.8341G>T (p.Gly2781Ter) | ClinVar dbSNP |
13 | g.32370508del | CA10589497 | BRCA2 | c.8438del (p.Gly2813GlufsTer8) c.8069del (p.Gly2690GlufsTer8) c.905del (p.Gly302GlufsTer8) c.8446del (n.8446del) c.1003del c.8342del (p.Gly2781GlufsTer8) | ClinVar dbSNP |
13 | g.32370507_32370508insTTTC | CA2695199694 | BRCA2 | c.8437_8438insTTTC (p.Gly2813ValfsTer8) c.8068_8069insTTTC (p.Gly2690ValfsTer8) c.904_905insTTTC (p.Gly302ValfsTer8) c.8445_8446insTTTC (n.8445_8446insTTTC) c.1002_1003insTTTC c.8341_8342insTTTC (p.Gly2781ValfsTer8) | ClinVar |
13 | g.32370508G>A | CA025646 | BRCA2 | c.8438G>A (p.Gly2813Glu) c.8069G>A (p.Gly2690Glu) c.905G>A (p.Gly302Glu) c.8446G>A (n.8446G>A) c.1003G>A c.8342G>A (p.Gly2781Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32370508G>C | CA387752559 | BRCA2 | c.8438G>C (p.Gly2813Ala) c.8069G>C (p.Gly2690Ala) c.905G>C (p.Gly302Ala) c.8446G>C (n.8446G>C) c.1003G>C c.8342G>C (p.Gly2781Ala) | dbSNP |
13 | g.32370508G= | CA2082814065 | BRCA2 | c.8438G= (p.Gly2813=) c.8069G= (p.Gly2690=) c.905G= (p.Gly302=) c.8446G= (n.8446G=) c.1003G= c.8342G= (p.Gly2781=) | |
13 | g.32370508G>T | CA387752560 | BRCA2 | c.8438G>T (p.Gly2813Val) c.8069G>T (p.Gly2690Val) c.905G>T (p.Gly302Val) c.8446G>T (n.8446G>T) c.1003G>T c.8342G>T (p.Gly2781Val) | |
13 | g.32370509A>C | CA483261250 | BRCA2 | c.8439A>C (p.Gly2813=) c.8070A>C (p.Gly2690=) c.906A>C (p.Gly302=) c.8447A>C (n.8447A>C) c.1004A>C c.8343A>C (p.Gly2781=) | ClinVar |
13 | g.32370509A>G | CA483261253 | BRCA2 | c.8439A>G (p.Gly2813=) c.8070A>G (p.Gly2690=) c.906A>G (p.Gly302=) c.8447A>G (n.8447A>G) c.1004A>G c.8343A>G (p.Gly2781=) | |
13 | g.32370509A>T | CA483261252 | BRCA2 | c.8439A>T (p.Gly2813=) c.8070A>T (p.Gly2690=) c.906A>T (p.Gly302=) c.8447A>T (n.8447A>T) c.1004A>T c.8343A>T (p.Gly2781=) | dbSNP |
13 | g.32370511del | CA1139768372 | BRCA2 | c.8441del (p.Asn2814MetfsTer7) c.8072del (p.Asn2691MetfsTer7) c.908del (p.Asn303MetfsTer7) c.8449del (n.8449del) c.1006del c.8345del (p.Asn2782MetfsTer7) | |
13 | g.32370510A= | CA2082814069 | BRCA2 | c.8440A= (p.Asn2814=) c.8071A= (p.Asn2691=) c.907A= (p.Asn303=) c.8448A= (n.8448A=) c.1005A= c.8344A= (p.Asn2782=) | |
13 | g.32370510A>C | CA387752562 | BRCA2 | c.8440A>C (p.Asn2814His) c.8071A>C (p.Asn2691His) c.907A>C (p.Asn303His) c.8448A>C (n.8448A>C) c.1005A>C c.8344A>C (p.Asn2782His) | ClinVar dbSNP |
13 | g.32370510A>G | CA10579786 | BRCA2 | c.8440A>G (p.Asn2814Asp) c.8071A>G (p.Asn2691Asp) c.907A>G (p.Asn303Asp) c.8448A>G (n.8448A>G) c.1005A>G c.8344A>G (p.Asn2782Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370510A>T | CA387752561 | BRCA2 | c.8440A>T (p.Asn2814Tyr) c.8071A>T (p.Asn2691Tyr) c.907A>T (p.Asn303Tyr) c.8448A>T (n.8448A>T) c.1005A>T c.8344A>T (p.Asn2782Tyr) | dbSNP |
13 | g.32370511A= | CA2082814077 | BRCA2 | c.8441A= (p.Asn2814=) c.8072A= (p.Asn2691=) c.908A= (p.Asn303=) c.8449A= (n.8449A=) c.1006A= c.8345A= (p.Asn2782=) | |
13 | g.32370511A>C | CA387752563 | BRCA2 | c.8441A>C (p.Asn2814Thr) c.8072A>C (p.Asn2691Thr) c.908A>C (p.Asn303Thr) c.8449A>C (n.8449A>C) c.1006A>C c.8345A>C (p.Asn2782Thr) | |
13 | g.32370511A>G | CA387752564 | BRCA2 | c.8441A>G (p.Asn2814Ser) c.8072A>G (p.Asn2691Ser) c.908A>G (p.Asn303Ser) c.8449A>G (n.8449A>G) c.1006A>G c.8345A>G (p.Asn2782Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32370511A>T | CA387752565 | BRCA2 | c.8441A>T (p.Asn2814Ile) c.8072A>T (p.Asn2691Ile) c.908A>T (p.Asn303Ile) c.8449A>T (n.8449A>T) c.1006A>T c.8345A>T (p.Asn2782Ile) | dbSNP |
13 | g.32370511_32370514delinsATGT | CA2082814074 | BRCA2 | c.8441_8444delinsATGT (p.Asn2814=) c.8072_8075delinsATGT (p.Asn2691=) c.908_911delinsATGT (p.Asn303=) c.8449_8452delinsATGT (n.8449_8452delinsATGT) c.1006_1009delinsATGT c.8345_8348delinsATGT (p.Asn2782=) | |
13 | g.32370512T>A | CA387752566 | BRCA2 | c.8442T>A (p.Asn2814Lys) c.8073T>A (p.Asn2691Lys) c.909T>A (p.Asn303Lys) c.8450T>A (n.8450T>A) c.1007T>A c.8346T>A (p.Asn2782Lys) | dbSNP |
13 | g.32370512T>C | CA483261255 | BRCA2 | c.8442T>C (p.Asn2814=) c.8073T>C (p.Asn2691=) c.909T>C (p.Asn303=) c.8450T>C (n.8450T>C) c.1007T>C c.8346T>C (p.Asn2782=) | ClinVar dbSNP gnomAD v4 |
13 | g.32370512T>G | CA387752567 | BRCA2 | c.8442T>G (p.Asn2814Lys) c.8073T>G (p.Asn2691Lys) c.909T>G (p.Asn303Lys) c.8450T>G (n.8450T>G) c.1007T>G c.8346T>G (p.Asn2782Lys) | dbSNP |
13 | g.32370512T= | CA2082814087 | BRCA2 | c.8442T= (p.Asn2814=) c.8073T= (p.Asn2691=) c.909T= (p.Asn303=) c.8450T= (n.8450T=) c.1007T= c.8346T= (p.Asn2782=) | |
13 | g.32370514_32370516del | CA658656376 | BRCA2 | c.8444_8446del (p.Val2815del) c.8075_8077del (p.Val2692del) c.911_913del (p.Val304del) c.8452_8454del (n.8452_8454del) c.1009_1011del c.8348_8350del (p.Val2783del) | ClinVar dbSNP gnomAD v4 |
13 | g.32370513G>A | CA025647 | BRCA2 | c.8443G>A (p.Val2815Ile) c.8074G>A (p.Val2692Ile) c.910G>A (p.Val304Ile) c.8451G>A (n.8451G>A) c.1008G>A c.8347G>A (p.Val2783Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32370513G>C | CA387752569 | BRCA2 | c.8443G>C (p.Val2815Leu) c.8074G>C (p.Val2692Leu) c.910G>C (p.Val304Leu) c.8451G>C (n.8451G>C) c.1008G>C c.8347G>C (p.Val2783Leu) | dbSNP |
13 | g.32370513G= | CA2082814101 | BRCA2 | c.8443G= (p.Val2815=) c.8074G= (p.Val2692=) c.910G= (p.Val304=) c.8451G= (n.8451G=) c.1008G= c.8347G= (p.Val2783=) | |
13 | g.32370513G>T | CA387752568 | BRCA2 | c.8443G>T (p.Val2815Phe) c.8074G>T (p.Val2692Phe) c.910G>T (p.Val304Phe) c.8451G>T (n.8451G>T) c.1008G>T c.8347G>T (p.Val2783Phe) | |
13 | g.32370514T>A | CA387752570 | BRCA2 | c.8444T>A (p.Val2815Asp) c.8075T>A (p.Val2692Asp) c.911T>A (p.Val304Asp) c.8452T>A (n.8452T>A) c.1009T>A c.8348T>A (p.Val2783Asp) | dbSNP |
13 | g.32370514T>C | CA387752571 | BRCA2 | c.8444T>C (p.Val2815Ala) c.8075T>C (p.Val2692Ala) c.911T>C (p.Val304Ala) c.8452T>C (n.8452T>C) c.1009T>C c.8348T>C (p.Val2783Ala) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32370514T>G | CA387752572 | BRCA2 | c.8444T>G (p.Val2815Gly) c.8075T>G (p.Val2692Gly) c.911T>G (p.Val304Gly) c.8452T>G (n.8452T>G) c.1009T>G c.8348T>G (p.Val2783Gly) | |
13 | g.32370514T= | CA2082814108 | BRCA2 | c.8444T= (p.Val2815=) c.8075T= (p.Val2692=) c.911T= (p.Val304=) c.8452T= (n.8452T=) c.1009T= c.8348T= (p.Val2783=) | |
13 | g.32370515T>A | CA483261258 | BRCA2 | c.8445T>A (p.Val2815=) c.8076T>A (p.Val2692=) c.912T>A (p.Val304=) c.8453T>A (n.8453T>A) c.1010T>A c.8349T>A (p.Val2783=) | |
13 | g.32370515T>C | CA483261259 | BRCA2 | c.8445T>C (p.Val2815=) c.8076T>C (p.Val2692=) c.912T>C (p.Val304=) c.8453T>C (n.8453T>C) c.1010T>C c.8349T>C (p.Val2783=) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32370515T>G | CA483261260 | BRCA2 | c.8445T>G (p.Val2815=) c.8076T>G (p.Val2692=) c.912T>G (p.Val304=) c.8453T>G (n.8453T>G) c.1010T>G c.8349T>G (p.Val2783=) | |
13 | g.32370515T= | CA2082814110 | BRCA2 | c.8445T= (p.Val2815=) c.8076T= (p.Val2692=) c.912T= (p.Val304=) c.8453T= (n.8453T=) c.1010T= c.8349T= (p.Val2783=) | |
13 | g.32370516G>A | CA387752573 | BRCA2 | c.8446G>A (p.Gly2816Ser) c.8077G>A (p.Gly2693Ser) c.913G>A (p.Gly305Ser) c.8454G>A (n.8454G>A) c.1011G>A c.8350G>A (p.Gly2784Ser) | ClinVar dbSNP |
13 | g.32370516G>C | CA387752574 | BRCA2 | c.8446G>C (p.Gly2816Arg) c.8077G>C (p.Gly2693Arg) c.913G>C (p.Gly305Arg) c.8454G>C (n.8454G>C) c.1011G>C c.8350G>C (p.Gly2784Arg) | ClinVar dbSNP |
13 | g.32370516G= | CA2082814117 | BRCA2 | c.8446G= (p.Gly2816=) c.8077G= (p.Gly2693=) c.913G= (p.Gly305=) c.8454G= (n.8454G=) c.1011G= c.8350G= (p.Gly2784=) | |
13 | g.32370516G>T | CA387752575 | BRCA2 | c.8446G>T (p.Gly2816Cys) c.8077G>T (p.Gly2693Cys) c.913G>T (p.Gly305Cys) c.8454G>T (n.8454G>T) c.1011G>T c.8350G>T (p.Gly2784Cys) | ClinVar dbSNP |
13 | g.32370517G>A | CA025648 | BRCA2 | c.8447G>A (p.Gly2816Asp) c.8078G>A (p.Gly2693Asp) c.914G>A (p.Gly305Asp) c.8455G>A (n.8455G>A) c.1012G>A c.8351G>A (p.Gly2784Asp) | ClinVar dbSNP |
13 | g.32370517G>C | CA358343 | BRCA2 | c.8447G>C (p.Gly2816Ala) c.8078G>C (p.Gly2693Ala) c.914G>C (p.Gly305Ala) c.8455G>C (n.8455G>C) c.1012G>C c.8351G>C (p.Gly2784Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32370517G= | CA2082814125 | BRCA2 | c.8447G= (p.Gly2816=) c.8078G= (p.Gly2693=) c.914G= (p.Gly305=) c.8455G= (n.8455G=) c.1012G= c.8351G= (p.Gly2784=) | |
13 | g.32370517G>T | CA387752576 | BRCA2 | c.8447G>T (p.Gly2816Val) c.8078G>T (p.Gly2693Val) c.914G>T (p.Gly305Val) c.8455G>T (n.8455G>T) c.1012G>T c.8351G>T (p.Gly2784Val) | ClinVar dbSNP |
13 | g.32370518T>A | CA483261263 | BRCA2 | c.8448T>A (p.Gly2816=) c.8079T>A (p.Gly2693=) c.915T>A (p.Gly305=) c.8456T>A (n.8456T>A) c.1013T>A c.8352T>A (p.Gly2784=) | |
13 | g.32370518T>C | CA483261265 | BRCA2 | c.8448T>C (p.Gly2816=) c.8079T>C (p.Gly2693=) c.915T>C (p.Gly305=) c.8456T>C (n.8456T>C) c.1013T>C c.8352T>C (p.Gly2784=) | |
13 | g.32370518T>G | CA483261266 | BRCA2 | c.8448T>G (p.Gly2816=) c.8079T>G (p.Gly2693=) c.915T>G (p.Gly305=) c.8456T>G (n.8456T>G) c.1013T>G c.8352T>G (p.Gly2784=) | |
13 | g.32370519T>A | CA387752577 | BRCA2 | c.8449T>A (p.Cys2817Ser) c.8080T>A (p.Cys2694Ser) c.916T>A (p.Cys306Ser) c.8457T>A (n.8457T>A) c.1014T>A c.8353T>A (p.Cys2785Ser) | |
13 | g.32370519T>C | CA387752578 | BRCA2 | c.8449T>C (p.Cys2817Arg) c.8080T>C (p.Cys2694Arg) c.916T>C (p.Cys306Arg) c.8457T>C (n.8457T>C) c.1014T>C c.8353T>C (p.Cys2785Arg) | |
13 | g.32370519T>G | CA387752579 | BRCA2 | c.8449T>G (p.Cys2817Gly) c.8080T>G (p.Cys2694Gly) c.916T>G (p.Cys306Gly) c.8457T>G (n.8457T>G) c.1014T>G c.8353T>G (p.Cys2785Gly) | |
13 | g.32370520G>A | CA387752580 | BRCA2 | c.8450G>A (p.Cys2817Tyr) c.8081G>A (p.Cys2694Tyr) c.917G>A (p.Cys306Tyr) c.8458G>A (n.8458G>A) c.1015G>A c.8354G>A (p.Cys2785Tyr) | dbSNP gnomAD v4 |
13 | g.32370520G>C | CA387752581 | BRCA2 | c.8450G>C (p.Cys2817Ser) c.8081G>C (p.Cys2694Ser) c.917G>C (p.Cys306Ser) c.8458G>C (n.8458G>C) c.1015G>C c.8354G>C (p.Cys2785Ser) | ClinVar dbSNP |
13 | g.32370520G= | CA2082814130 | BRCA2 | c.8450G= (p.Cys2817=) c.8081G= (p.Cys2694=) c.917G= (p.Cys306=) c.8458G= (n.8458G=) c.1015G= c.8354G= (p.Cys2785=) | |
13 | g.32370520G>T | CA025649 | BRCA2 | c.8450G>T (p.Cys2817Phe) c.8081G>T (p.Cys2694Phe) c.917G>T (p.Cys306Phe) c.8458G>T (n.8458G>T) c.1015G>T c.8354G>T (p.Cys2785Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |