| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32357847_32357906dup | CA2580614662 | BRCA2 | c.7723_7782dup (p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.7354_7413dup (p.Lys2471_Ala2472insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.190_249dup (p.Lys83_Ala84insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) c.288_347dup n.7723_7782dup c.7627_7686dup (p.Lys2562_Ala2563insThrGlyLysGlyIleGlnLeuAlaAspGlyGlyTrpLeuIleProSerAsnAspGlyLys) | ClinVar |
| 13 | g.32357882_32357885del | CA2695217925 | BRCA2 | c.7758_7761del (p.Trp2586Ter) c.7389_7392del (p.Trp2463Ter) c.225_228del (p.Trp75Ter) c.323_326del n.7758_7761del c.7662_7665del (p.Trp2554Ter) | |
| 13 | g.32357884_32357885delinsTC | CA2082818768 | BRCA2 | c.7760_7761delinsTC (p.Leu2587=) c.7391_7392delinsTC (p.Leu2464=) c.227_228delinsTC (p.Leu76=) c.325_326delinsTC n.7760_7761delinsTC c.7664_7665delinsTC (p.Leu2555=) | |
| 13 | g.32357885del | CA025264 | BRCA2 | c.7761del (p.Ile2588TyrfsTer?) c.7392del (p.Ile2465TyrfsTer?) c.228del (p.Ile77TyrfsTer?) c.7761del (p.Ile2588TyrfsTer21) c.326del n.7761del c.7665del (p.Ile2556TyrfsTer?) | ClinVar dbSNP |
| 13 | g.32357885C>A | CA483439255 | BRCA2 | c.7761C>A (p.Leu2587=) c.7392C>A (p.Leu2464=) c.228C>A (p.Leu76=) c.326C>A n.7761C>A c.7665C>A (p.Leu2555=) | ClinVar dbSNP |
| 13 | g.32357885C= | CA2082818793 | BRCA2 | c.7761C= (p.Leu2587=) c.7392C= (p.Leu2464=) c.228C= (p.Leu76=) c.326C= n.7761C= c.7665C= (p.Leu2555=) | |
| 13 | g.32357885C>G | CA483439256 | BRCA2 | c.7761C>G (p.Leu2587=) c.7392C>G (p.Leu2464=) c.228C>G (p.Leu76=) c.326C>G n.7761C>G c.7665C>G (p.Leu2555=) | ClinVar dbSNP |
| 13 | g.32357885C>T | CA483439257 | BRCA2 | c.7761C>T (p.Leu2587=) c.7392C>T (p.Leu2464=) c.228C>T (p.Leu76=) c.326C>T n.7761C>T c.7665C>T (p.Leu2555=) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32357885_32357886delinsCA | CA2082818795 | BRCA2 | c.7761_7762delinsCA (p.Leu2587=) c.7392_7393delinsCA (p.Leu2464=) c.228_229delinsCA (p.Leu76=) c.326_327delinsCA n.7761_7762delinsCA c.7665_7666delinsCA (p.Leu2555=) | |
| 13 | g.32357885_32357888delinsCATA | CA2082818783 | BRCA2 | c.7761_7764delinsCATA (p.Leu2587=) c.7392_7395delinsCATA (p.Leu2464=) c.228_231delinsCATA (p.Leu76=) c.326_329delinsCATA n.7761_7764delinsCATA c.7665_7668delinsCATA (p.Leu2555=) | |
| 13 | g.32357886_32357890dup | CA10589449 | BRCA2 | c.7762_7766dup (p.Ser2590TyrfsTer?) c.7393_7397dup (p.Ser2467TyrfsTer?) c.229_233dup (p.Ser79TyrfsTer?) c.7762_7766dup (p.Ser2590TyrfsTer21) c.327_331dup n.7762_7766dup c.7666_7670dup (p.Ser2558TyrfsTer?) | ClinVar dbSNP |
| 13 | g.32357886del | CA025265 | BRCA2 | c.7762del (p.Ile2588TyrfsTer?) c.7393del (p.Ile2465TyrfsTer?) c.229del (p.Ile77TyrfsTer?) c.7762del (p.Ile2588TyrfsTer21) c.327del n.7762del c.7666del (p.Ile2556TyrfsTer?) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357886A>C | CA387745858 | BRCA2 | c.7762A>C (p.Ile2588Leu) c.7393A>C (p.Ile2465Leu) c.229A>C (p.Ile77Leu) c.327A>C n.7762A>C c.7666A>C (p.Ile2556Leu) | ClinVar |
| 13 | g.32357886A>G | CA387745862 | BRCA2 | c.7762A>G (p.Ile2588Val) c.7393A>G (p.Ile2465Val) c.229A>G (p.Ile77Val) c.327A>G n.7762A>G c.7666A>G (p.Ile2556Val) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357886A>T | CA387745864 | BRCA2 | c.7762A>T (p.Ile2588Leu) c.7393A>T (p.Ile2465Leu) c.229A>T (p.Ile77Leu) c.327A>T n.7762A>T c.7666A>T (p.Ile2556Leu) | |
| 13 | g.32357886delinsTT | CA2695217926 | BRCA2 | c.7762delinsTT (p.Ile2588PhefsTer5) c.7393delinsTT (p.Ile2465PhefsTer5) c.229delinsTT (p.Ile77PhefsTer5) c.327delinsTT n.7762delinsTT c.7666delinsTT (p.Ile2556PhefsTer5) | |
| 13 | g.32357886_32357888delinsCC | CA2580087360 | BRCA2 | c.7762_7764delinsCC (p.Ile2588ProfsTer?) c.7393_7395delinsCC (p.Ile2465ProfsTer?) c.229_231delinsCC (p.Ile77ProfsTer?) c.7762_7764delinsCC (p.Ile2588ProfsTer21) c.327_329delinsCC n.7762_7764delinsCC c.7666_7668delinsCC (p.Ile2556ProfsTer?) | ClinVar |
| 13 | g.32357886_32357888delinsTT | CA090898 | BRCA2 | c.7762_7764delinsTT (p.Ile2588PhefsTer?) c.7393_7395delinsTT (p.Ile2465PhefsTer?) c.229_231delinsTT (p.Ile77PhefsTer?) c.7762_7764delinsTT (p.Ile2588PhefsTer21) c.327_329delinsTT n.7762_7764delinsTT c.7666_7668delinsTT (p.Ile2556PhefsTer?) | ClinVar dbSNP |
| 13 | g.32357887T>A | CA387745870 | BRCA2 | c.7763T>A (p.Ile2588Lys) c.7394T>A (p.Ile2465Lys) c.230T>A (p.Ile77Lys) c.328T>A n.7763T>A c.7667T>A (p.Ile2556Lys) | dbSNP |
| 13 | g.32357887T>C | CA387745871 | BRCA2 | c.7763T>C (p.Ile2588Thr) c.7394T>C (p.Ile2465Thr) c.230T>C (p.Ile77Thr) c.328T>C n.7763T>C c.7667T>C (p.Ile2556Thr) | dbSNP |
| 13 | g.32357887T>G | CA387745873 | BRCA2 | c.7763T>G (p.Ile2588Arg) c.7394T>G (p.Ile2465Arg) c.230T>G (p.Ile77Arg) c.328T>G n.7763T>G c.7667T>G (p.Ile2556Arg) | |
| 13 | g.32357887T= | CA2082818821 | BRCA2 | c.7763T= (p.Ile2588=) c.7394T= (p.Ile2465=) c.230T= (p.Ile77=) c.328T= n.7763T= c.7667T= (p.Ile2556=) | |
| 13 | g.32357888del | CA2695217929 | BRCA2 | c.7764del (p.Ser2590ProfsTer?) c.7395del (p.Ser2467ProfsTer?) c.231del (p.Ser79ProfsTer?) c.7764del (p.Ser2590ProfsTer19) c.329del n.7764del c.7668del (p.Ser2558ProfsTer?) | |
| 13 | g.32357888A= | CA2082818835 | BRCA2 | c.7764A= (p.Ile2588=) c.7395A= (p.Ile2465=) c.231A= (p.Ile77=) c.329A= n.7764A= c.7668A= (p.Ile2556=) | |
| 13 | g.32357888A>C | CA483439260 | BRCA2 | c.7764A>C (p.Ile2588=) c.7395A>C (p.Ile2465=) c.231A>C (p.Ile77=) c.329A>C n.7764A>C c.7668A>C (p.Ile2556=) | |
| 13 | g.32357888A>G | CA387745876 | BRCA2 | c.7764A>G (p.Ile2588Met) c.7395A>G (p.Ile2465Met) c.231A>G (p.Ile77Met) c.329A>G n.7764A>G c.7668A>G (p.Ile2556Met) | |
| 13 | g.32357888A>T | CA025266 | BRCA2 | c.7764A>T (p.Ile2588=) c.7395A>T (p.Ile2465=) c.231A>T (p.Ile77=) c.329A>T n.7764A>T c.7668A>T (p.Ile2556=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357889C>A | CA6941137 | BRCA2 | c.7765C>A (p.Pro2589Thr) c.7396C>A (p.Pro2466Thr) c.232C>A (p.Pro78Thr) c.330C>A n.7765C>A c.7669C>A (p.Pro2557Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32357889C= | CA2082818848 | BRCA2 | c.7765C= (p.Pro2589=) c.7396C= (p.Pro2466=) c.232C= (p.Pro78=) c.330C= n.7765C= c.7669C= (p.Pro2557=) | |
| 13 | g.32357889C>G | CA387745884 | BRCA2 | c.7765C>G (p.Pro2589Ala) c.7396C>G (p.Pro2466Ala) c.232C>G (p.Pro78Ala) c.330C>G n.7765C>G c.7669C>G (p.Pro2557Ala) | dbSNP |
| 13 | g.32357889C>T | CA387745881 | BRCA2 | c.7765C>T (p.Pro2589Ser) c.7396C>T (p.Pro2466Ser) c.232C>T (p.Pro78Ser) c.330C>T n.7765C>T c.7669C>T (p.Pro2557Ser) | ClinVar dbSNP |
| 13 | g.32357891del | CA2499222306 | BRCA2 | c.7767del (p.Ser2590ProfsTer?) c.7398del (p.Ser2467ProfsTer?) c.234del (p.Ser79ProfsTer?) c.7767del (p.Ser2590ProfsTer19) c.332del n.7767del c.7671del (p.Ser2558ProfsTer?) | ClinVar dbSNP |
| 13 | g.32357890C>A | CA025267 | BRCA2 | c.7766C>A (p.Pro2589His) c.7397C>A (p.Pro2466His) c.233C>A (p.Pro78His) c.331C>A n.7766C>A c.7670C>A (p.Pro2557His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32357890C= | CA2082818874 | BRCA2 | c.7766C= (p.Pro2589=) c.7397C= (p.Pro2466=) c.233C= (p.Pro78=) c.331C= n.7766C= c.7670C= (p.Pro2557=) | |
| 13 | g.32357890C>G | CA387745888 | BRCA2 | c.7766C>G (p.Pro2589Arg) c.7397C>G (p.Pro2466Arg) c.233C>G (p.Pro78Arg) c.331C>G n.7766C>G c.7670C>G (p.Pro2557Arg) | dbSNP |
| 13 | g.32357890C>T | CA10579752 | BRCA2 | c.7766C>T (p.Pro2589Leu) c.7397C>T (p.Pro2466Leu) c.233C>T (p.Pro78Leu) c.331C>T n.7766C>T c.7670C>T (p.Pro2557Leu) | ClinVar dbSNP |
| 13 | g.32357891C>A | CA483439266 | BRCA2 | c.7767C>A (p.Pro2589=) c.7398C>A (p.Pro2466=) c.234C>A (p.Pro78=) c.332C>A n.7767C>A c.7671C>A (p.Pro2557=) | dbSNP |
| 13 | g.32357891C= | CA2082818885 | BRCA2 | c.7767C= (p.Pro2589=) c.7398C= (p.Pro2466=) c.234C= (p.Pro78=) c.332C= n.7767C= c.7671C= (p.Pro2557=) | |
| 13 | g.32357891C>G | CA483439267 | BRCA2 | c.7767C>G (p.Pro2589=) c.7398C>G (p.Pro2466=) c.234C>G (p.Pro78=) c.332C>G n.7767C>G c.7671C>G (p.Pro2557=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357891C>T | CA483439268 | BRCA2 | c.7767C>T (p.Pro2589=) c.7398C>T (p.Pro2466=) c.234C>T (p.Pro78=) c.332C>T n.7767C>T c.7671C>T (p.Pro2557=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32357892_32357893dup | CA2499222307 | BRCA2 | c.7768_7769dup (p.Asn2591ProfsTer?) c.7399_7400dup (p.Asn2468ProfsTer?) c.235_236dup (p.Asn80ProfsTer?) c.7768_7769dup (p.Asn2591ProfsTer19) c.333_334dup n.7768_7769dup c.7672_7673dup (p.Asn2559ProfsTer?) | ClinVar dbSNP |
| 13 | g.32357892T>A | CA025268 | BRCA2 | c.7768T>A (p.Ser2590Thr) c.7399T>A (p.Ser2467Thr) c.235T>A (p.Ser79Thr) c.333T>A n.7768T>A c.7672T>A (p.Ser2558Thr) | ClinVar dbSNP |
| 13 | g.32357892T>C | CA10579753 | BRCA2 | c.7768T>C (p.Ser2590Pro) c.7399T>C (p.Ser2467Pro) c.235T>C (p.Ser79Pro) c.333T>C n.7768T>C c.7672T>C (p.Ser2558Pro) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357892T>G | CA387745893 | BRCA2 | c.7768T>G (p.Ser2590Ala) c.7399T>G (p.Ser2467Ala) c.235T>G (p.Ser79Ala) c.333T>G n.7768T>G c.7672T>G (p.Ser2558Ala) | |
| 13 | g.32357892T= | CA2082818892 | BRCA2 | c.7768T= (p.Ser2590=) c.7399T= (p.Ser2467=) c.235T= (p.Ser79=) c.333T= n.7768T= c.7672T= (p.Ser2558=) | |
| 13 | g.32357893C>A | CA387745895 | BRCA2 | c.7769C>A (p.Ser2590Tyr) c.7400C>A (p.Ser2467Tyr) c.236C>A (p.Ser79Tyr) c.334C>A n.7769C>A c.7673C>A (p.Ser2558Tyr) | |
| 13 | g.32357893C= | CA2082818900 | BRCA2 | c.7769C= (p.Ser2590=) c.7400C= (p.Ser2467=) c.236C= (p.Ser79=) c.334C= n.7769C= c.7673C= (p.Ser2558=) | |
| 13 | g.32357893C>G | CA025269 | BRCA2 | c.7769C>G (p.Ser2590Cys) c.7400C>G (p.Ser2467Cys) c.236C>G (p.Ser79Cys) c.334C>G n.7769C>G c.7673C>G (p.Ser2558Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32357893C>T | CA387745900 | BRCA2 | c.7769C>T (p.Ser2590Phe) c.7400C>T (p.Ser2467Phe) c.236C>T (p.Ser79Phe) c.334C>T n.7769C>T c.7673C>T (p.Ser2558Phe) | ClinVar |
| 13 | g.32357894C>A | CA483439272 | BRCA2 | c.7770C>A (p.Ser2590=) c.7401C>A (p.Ser2467=) c.237C>A (p.Ser79=) c.335C>A n.7770C>A c.7674C>A (p.Ser2558=) | dbSNP |