| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
| 13 | g.32356502_32356793del | CA2580087468 | BRCA2 | c.7510_7617+184del c.7141_7248+184del c.75_182+184del n.7510_7617+184del c.7414_7521+184del | ClinVar |
| 13 | g.32356553_32356557delinsATCTC | CA2082815189 | BRCA2 | c.7561_7565delinsATCTC (p.Ile2521=) c.7192_7196delinsATCTC (p.Ile2398=) c.28_32delinsATCTC (p.Ile10=) c.126_130delinsATCTC n.7561_7565delinsATCTC c.7465_7469delinsATCTC (p.Ile2489=) | |
| 13 | g.32356559_32356560del | CA025157 | BRCA2 | c.7567_7568del (p.Leu2523GlufsTer15) c.7198_7199del (p.Leu2400GlufsTer15) c.34_35del (p.Leu12GlufsTer15) c.132_133del n.7567_7568del c.7471_7472del (p.Leu2491GlufsTer15) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356557_32356560del | CA10589439 | BRCA2 | c.7565_7568del (p.Ser2522Ter) c.7196_7199del (p.Ser2399Ter) c.32_35del (p.Ser11Ter) c.130_133del n.7565_7568del c.7469_7472del (p.Ser2490Ter) | dbSNP |
| 13 | g.32356555del | CA2573149394 | BRCA2 | c.7563del (p.Ser2522LeufsTer2) c.7194del (p.Ser2399LeufsTer2) c.30del (p.Ser11LeufsTer2) c.128del n.7563del c.7467del (p.Ser2490LeufsTer2) | ClinVar dbSNP |
| 13 | g.32356555C>A | CA025153 | BRCA2 | c.7563C>A (p.Ile2521=) c.7194C>A (p.Ile2398=) c.30C>A (p.Ile10=) c.128C>A n.7563C>A c.7467C>A (p.Ile2489=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356555C= | CA2082815225 | BRCA2 | c.7563C= (p.Ile2521=) c.7194C= (p.Ile2398=) c.30C= (p.Ile10=) c.128C= n.7563C= c.7467C= (p.Ile2489=) | |
| 13 | g.32356555C>G | CA387743749 | BRCA2 | c.7563C>G (p.Ile2521Met) c.7194C>G (p.Ile2398Met) c.30C>G (p.Ile10Met) c.128C>G n.7563C>G c.7467C>G (p.Ile2489Met) | dbSNP |
| 13 | g.32356555C>T | CA483260425 | BRCA2 | c.7563C>T (p.Ile2521=) c.7194C>T (p.Ile2398=) c.30C>T (p.Ile10=) c.128C>T n.7563C>T c.7467C>T (p.Ile2489=) | dbSNP |
| 13 | g.32356556T>A | CA387743752 | BRCA2 | c.7564T>A (p.Ser2522Thr) c.7195T>A (p.Ser2399Thr) c.31T>A (p.Ser11Thr) c.129T>A n.7564T>A c.7468T>A (p.Ser2490Thr) | dbSNP |
| 13 | g.32356556T>C | CA387743753 | BRCA2 | c.7564T>C (p.Ser2522Pro) c.7195T>C (p.Ser2399Pro) c.31T>C (p.Ser11Pro) c.129T>C n.7564T>C c.7468T>C (p.Ser2490Pro) | dbSNP |
| 13 | g.32356556T>G | CA387743755 | BRCA2 | c.7564T>G (p.Ser2522Ala) c.7195T>G (p.Ser2399Ala) c.31T>G (p.Ser11Ala) c.129T>G n.7564T>G c.7468T>G (p.Ser2490Ala) | |
| 13 | g.32356557C>A | CA387743761 | BRCA2 | c.7565C>A (p.Ser2522Tyr) c.7196C>A (p.Ser2399Tyr) c.32C>A (p.Ser11Tyr) c.130C>A n.7565C>A c.7469C>A (p.Ser2490Tyr) | |
| 13 | g.32356557C= | CA2082815237 | BRCA2 | c.7565C= (p.Ser2522=) c.7196C= (p.Ser2399=) c.32C= (p.Ser11=) c.130C= n.7565C= c.7469C= (p.Ser2490=) | |
| 13 | g.32356557C>G | CA387743759 | BRCA2 | c.7565C>G (p.Ser2522Cys) c.7196C>G (p.Ser2399Cys) c.32C>G (p.Ser11Cys) c.130C>G n.7565C>G c.7469C>G (p.Ser2490Cys) | |
| 13 | g.32356557C>T | CA025154 | BRCA2 | c.7565C>T (p.Ser2522Phe) c.7196C>T (p.Ser2399Phe) c.32C>T (p.Ser11Phe) c.130C>T n.7565C>T c.7469C>T (p.Ser2490Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356558T>A | CA483260426 | BRCA2 | c.7566T>A (p.Ser2522=) c.7197T>A (p.Ser2399=) c.33T>A (p.Ser11=) c.131T>A n.7566T>A c.7470T>A (p.Ser2490=) | dbSNP |
| 13 | g.32356558T>C | CA483260427 | BRCA2 | c.7566T>C (p.Ser2522=) c.7197T>C (p.Ser2399=) c.33T>C (p.Ser11=) c.131T>C n.7566T>C c.7470T>C (p.Ser2490=) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32356558T>G | CA483260428 | BRCA2 | c.7566T>G (p.Ser2522=) c.7197T>G (p.Ser2399=) c.33T>G (p.Ser11=) c.131T>G n.7566T>G c.7470T>G (p.Ser2490=) | ClinVar |
| 13 | g.32356559C>A | CA387743767 | BRCA2 | c.7567C>A (p.Leu2523Met) c.7198C>A (p.Leu2400Met) c.34C>A (p.Leu12Met) c.132C>A n.7567C>A c.7471C>A (p.Leu2491Met) | |
| 13 | g.32356559C= | CA2082815244 | BRCA2 | c.7567C= (p.Leu2523=) c.7198C= (p.Leu2400=) c.34C= (p.Leu12=) c.132C= n.7567C= c.7471C= (p.Leu2491=) | |
| 13 | g.32356559C>G | CA387743765 | BRCA2 | c.7567C>G (p.Leu2523Val) c.7198C>G (p.Leu2400Val) c.34C>G (p.Leu12Val) c.132C>G n.7567C>G c.7471C>G (p.Leu2491Val) | dbSNP |
| 13 | g.32356559C>T | CA483260429 | BRCA2 | c.7567C>T (p.Leu2523=) c.7198C>T (p.Leu2400=) c.34C>T (p.Leu12=) c.132C>T n.7567C>T c.7471C>T (p.Leu2491=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356560T>A | CA387743769 | BRCA2 | c.7568T>A (p.Leu2523Gln) c.7199T>A (p.Leu2400Gln) c.35T>A (p.Leu12Gln) c.133T>A n.7568T>A c.7472T>A (p.Leu2491Gln) | dbSNP |
| 13 | g.32356560T>C | CA16619765 | BRCA2 | c.7568T>C (p.Leu2523Pro) c.7199T>C (p.Leu2400Pro) c.35T>C (p.Leu12Pro) c.133T>C n.7568T>C c.7472T>C (p.Leu2491Pro) | ClinVar dbSNP |
| 13 | g.32356560T>G | CA387743772 | BRCA2 | c.7568T>G (p.Leu2523Arg) c.7199T>G (p.Leu2400Arg) c.35T>G (p.Leu12Arg) c.133T>G n.7568T>G c.7472T>G (p.Leu2491Arg) | |
| 13 | g.32356560T= | CA2082815254 | BRCA2 | c.7568T= (p.Leu2523=) c.7199T= (p.Leu2400=) c.35T= (p.Leu12=) c.133T= n.7568T= c.7472T= (p.Leu2491=) | |
| 13 | g.32356560dup | CA913189209 | BRCA2 | c.7568dup (p.Lys2524GlufsTer15) c.7199dup (p.Lys2401GlufsTer15) c.35dup (p.Lys13GlufsTer15) c.133dup n.7568dup c.7472dup (p.Lys2492GlufsTer15) | ClinVar dbSNP |
| 13 | g.32356561G>A | CA025158 | BRCA2 | c.7569G>A (p.Leu2523=) c.7200G>A (p.Leu2400=) c.36G>A (p.Leu12=) c.134G>A n.7569G>A c.7473G>A (p.Leu2491=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356561G>C | CA483260430 | BRCA2 | c.7569G>C (p.Leu2523=) c.7200G>C (p.Leu2400=) c.36G>C (p.Leu12=) c.134G>C n.7569G>C c.7473G>C (p.Leu2491=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356561G= | CA2082815264 | BRCA2 | c.7569G= (p.Leu2523=) c.7200G= (p.Leu2400=) c.36G= (p.Leu12=) c.134G= n.7569G= c.7473G= (p.Leu2491=) | |
| 13 | g.32356561G>T | CA483260431 | BRCA2 | c.7569G>T (p.Leu2523=) c.7200G>T (p.Leu2400=) c.36G>T (p.Leu12=) c.134G>T n.7569G>T c.7473G>T (p.Leu2491=) | |
| 13 | g.32356562A= | CA2082815277 | BRCA2 | c.7570A= (p.Lys2524=) c.7201A= (p.Lys2401=) c.37A= (p.Lys13=) c.135A= n.7570A= c.7474A= (p.Lys2492=) | |
| 13 | g.32356562A>C | CA387743781 | BRCA2 | c.7570A>C (p.Lys2524Gln) c.7201A>C (p.Lys2401Gln) c.37A>C (p.Lys13Gln) c.135A>C n.7570A>C c.7474A>C (p.Lys2492Gln) | |
| 13 | g.32356562A>G | CA387743776 | BRCA2 | c.7570A>G (p.Lys2524Glu) c.7201A>G (p.Lys2401Glu) c.37A>G (p.Lys13Glu) c.135A>G n.7570A>G c.7474A>G (p.Lys2492Glu) | ClinVar dbSNP |
| 13 | g.32356562A>T | CA387743779 | BRCA2 | c.7570A>T (p.Lys2524Ter) c.7201A>T (p.Lys2401Ter) c.37A>T (p.Lys13Ter) c.135A>T n.7570A>T c.7474A>T (p.Lys2492Ter) | ClinVar dbSNP |
| 13 | g.32356564dup | CA915946871 | BRCA2 | c.7572dup (p.Ala2525SerfsTer14) c.7203dup (p.Ala2402SerfsTer14) c.39dup (p.Ala14SerfsTer14) c.137dup n.7572dup c.7476dup (p.Ala2493SerfsTer14) | ClinVar dbSNP |
| 13 | g.32356563A>C | CA387743783 | BRCA2 | c.7571A>C (p.Lys2524Thr) c.7202A>C (p.Lys2401Thr) c.38A>C (p.Lys13Thr) c.136A>C n.7571A>C c.7475A>C (p.Lys2492Thr) | |
| 13 | g.32356563A>G | CA387743784 | BRCA2 | c.7571A>G (p.Lys2524Arg) c.7202A>G (p.Lys2401Arg) c.38A>G (p.Lys13Arg) c.136A>G n.7571A>G c.7475A>G (p.Lys2492Arg) | COSMIC COSMIC |
| 13 | g.32356563A>T | CA387743787 | BRCA2 | c.7571A>T (p.Lys2524Ile) c.7202A>T (p.Lys2401Ile) c.38A>T (p.Lys13Ile) c.136A>T n.7571A>T c.7475A>T (p.Lys2492Ile) | dbSNP |
| 13 | g.32356564A>C | CA387743790 | BRCA2 | c.7572A>C (p.Lys2524Asn) c.7203A>C (p.Lys2401Asn) c.39A>C (p.Lys13Asn) c.137A>C n.7572A>C c.7476A>C (p.Lys2492Asn) | |
| 13 | g.32356564A>G | CA483260432 | BRCA2 | c.7572A>G (p.Lys2524=) c.7203A>G (p.Lys2401=) c.39A>G (p.Lys13=) c.137A>G n.7572A>G c.7476A>G (p.Lys2492=) | |
| 13 | g.32356564A>T | CA387743792 | BRCA2 | c.7572A>T (p.Lys2524Asn) c.7203A>T (p.Lys2401Asn) c.39A>T (p.Lys13Asn) c.137A>T n.7572A>T c.7476A>T (p.Lys2492Asn) | ClinVar dbSNP |
| 13 | g.32356565G>A | CA025160 | BRCA2 | c.7573G>A (p.Ala2525Thr) c.7204G>A (p.Ala2402Thr) c.40G>A (p.Ala14Thr) c.138G>A n.7573G>A c.7477G>A (p.Ala2493Thr) | ClinVar dbSNP |
| 13 | g.32356565G>C | CA387743799 | BRCA2 | c.7573G>C (p.Ala2525Pro) c.7204G>C (p.Ala2402Pro) c.40G>C (p.Ala14Pro) c.138G>C n.7573G>C c.7477G>C (p.Ala2493Pro) | ClinVar dbSNP |
| 13 | g.32356565G= | CA2082815291 | BRCA2 | c.7573G= (p.Ala2525=) c.7204G= (p.Ala2402=) c.40G= (p.Ala14=) c.138G= n.7573G= c.7477G= (p.Ala2493=) | |
| 13 | g.32356565G>T | CA387743796 | BRCA2 | c.7573G>T (p.Ala2525Ser) c.7204G>T (p.Ala2402Ser) c.40G>T (p.Ala14Ser) c.138G>T n.7573G>T c.7477G>T (p.Ala2493Ser) | |
| 13 | g.32356565_32356566del | CA2499222296 | BRCA2 | c.7573_7574del (p.Ala2525SerfsTer13) c.7204_7205del (p.Ala2402SerfsTer13) c.40_41del (p.Ala14SerfsTer13) c.138_139del n.7573_7574del c.7477_7478del (p.Ala2493SerfsTer13) | |
| 13 | g.32356566C>A | CA387743801 | BRCA2 | c.7574C>A (p.Ala2525Glu) c.7205C>A (p.Ala2402Glu) c.41C>A (p.Ala14Glu) c.139C>A n.7574C>A c.7478C>A (p.Ala2493Glu) |