| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32338128_32338142del | CA2580087225 | BRCA2 | c.3773_3787del (p.Ile1258_Ser1262del) c.3404_3418del (p.Ile1135_Ser1139del) n.3773_3787del | ClinVar |
| 13 | g.32338127del | CA018776 | BRCA2 | c.3772del (p.Ile1258Ter) c.3403del (p.Ile1135Ter) n.3772del | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32338126_32338128delinsAAT | CA2082820577 | BRCA2 | c.3771_3773delinsAAT (p.Pro1257=) c.3402_3404delinsAAT (p.Pro1134=) n.3771_3773delinsAAT | |
| 13 | g.32338127A= | CA2082820598 | BRCA2 | c.3772A= (p.Ile1258=) c.3403A= (p.Ile1135=) n.3772A= | |
| 13 | g.32338127A>C | CA387778271 | BRCA2 | c.3772A>C (p.Ile1258Leu) c.3403A>C (p.Ile1135Leu) n.3772A>C | |
| 13 | g.32338127A>G | CA018772 | BRCA2 | c.3772A>G (p.Ile1258Val) c.3403A>G (p.Ile1135Val) n.3772A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338127A>T | CA387778273 | BRCA2 | c.3772A>T (p.Ile1258Leu) c.3403A>T (p.Ile1135Leu) n.3772A>T | dbSNP |
| 13 | g.32338128_32338129del | CA018782 | BRCA2 | c.3773_3774del (p.Ile1258LysfsTer6) c.3404_3405del (p.Ile1135LysfsTer6) n.3773_3774del | ClinVar dbSNP |
| 13 | g.32338128T>A | CA6940724 | BRCA2 | c.3773T>A (p.Ile1258Lys) c.3404T>A (p.Ile1135Lys) n.3773T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338128T>C | CA387778281 | BRCA2 | c.3773T>C (p.Ile1258Thr) c.3404T>C (p.Ile1135Thr) n.3773T>C | |
| 13 | g.32338128T>G | CA387778277 | BRCA2 | c.3773T>G (p.Ile1258Arg) c.3404T>G (p.Ile1135Arg) n.3773T>G | ClinVar dbSNP |
| 13 | g.32338128T= | CA2082820623 | BRCA2 | c.3773T= (p.Ile1258=) c.3404T= (p.Ile1135=) n.3773T= | |
| 13 | g.32338128_32338130delinsTAA | CA2082820608 | BRCA2 | c.3773_3775delinsTAA (p.Ile1258=) c.3404_3406delinsTAA (p.Ile1135=) n.3773_3775delinsTAA | |
| 13 | g.32338129A= | CA2082820643 | BRCA2 | c.3774A= (p.Ile1258=) c.3405A= (p.Ile1135=) n.3774A= | |
| 13 | g.32338129A>C | CA483437910 | BRCA2 | c.3774A>C (p.Ile1258=) c.3405A>C (p.Ile1135=) n.3774A>C | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338129A>G | CA387778283 | BRCA2 | c.3774A>G (p.Ile1258Met) c.3405A>G (p.Ile1135Met) n.3774A>G | |
| 13 | g.32338129A>T | CA483437912 | BRCA2 | c.3774A>T (p.Ile1258=) c.3405A>T (p.Ile1135=) n.3774A>T | dbSNP |
| 13 | g.32338129_32338130del | CA10586515 | BRCA2 | c.3774_3775del (p.Ile1258MetfsTer6) c.3405_3406del (p.Ile1135MetfsTer6) n.3774_3775del | ClinVar dbSNP |
| 13 | g.32338130A= | CA2082820658 | BRCA2 | c.3775A= (p.Ser1259=) c.3406A= (p.Ser1136=) n.3775A= | |
| 13 | g.32338130A>C | CA018788 | BRCA2 | c.3775A>C (p.Ser1259Arg) c.3406A>C (p.Ser1136Arg) n.3775A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338130A>G | CA387778287 | BRCA2 | c.3775A>G (p.Ser1259Gly) c.3406A>G (p.Ser1136Gly) n.3775A>G | |
| 13 | g.32338130A>T | CA387778289 | BRCA2 | c.3775A>T (p.Ser1259Cys) c.3406A>T (p.Ser1136Cys) n.3775A>T | dbSNP |
| 13 | g.32338130_32338137dup | CA2573149335 | BRCA2 | c.3775_3782dup (p.Ser1262ValfsTer17) c.3406_3413dup (p.Ser1139ValfsTer17) n.3775_3782dup | ClinVar dbSNP |
| 13 | g.32338131G>A | CA6940725 | BRCA2 | c.3776G>A (p.Ser1259Asn) c.3407G>A (p.Ser1136Asn) n.3776G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338131G>C | CA387778292 | BRCA2 | c.3776G>C (p.Ser1259Thr) c.3407G>C (p.Ser1136Thr) n.3776G>C | |
| 13 | g.32338131G= | CA2082820668 | BRCA2 | c.3776G= (p.Ser1259=) c.3407G= (p.Ser1136=) n.3776G= | |
| 13 | g.32338131G>T | CA387778294 | BRCA2 | c.3776G>T (p.Ser1259Ile) c.3407G>T (p.Ser1136Ile) n.3776G>T | gnomAD v4 |
| 13 | g.32338131_32338133delinsGTT | CA2082820667 | BRCA2 | c.3776_3778delinsGTT (p.Ser1259=) c.3407_3409delinsGTT (p.Ser1136=) n.3776_3778delinsGTT | |
| 13 | g.32338132T>A | CA387778299 | BRCA2 | c.3777T>A (p.Ser1259Arg) c.3408T>A (p.Ser1136Arg) n.3777T>A | ClinVar dbSNP |
| 13 | g.32338132T>C | CA483437914 | BRCA2 | c.3777T>C (p.Ser1259=) c.3408T>C (p.Ser1136=) n.3777T>C | |
| 13 | g.32338132T>G | CA387778301 | BRCA2 | c.3777T>G (p.Ser1259Arg) c.3408T>G (p.Ser1136Arg) n.3777T>G | dbSNP |
| 13 | g.32338134dup | CA10589222 | BRCA2 | c.3779dup (p.Leu1260PhefsTer5) c.3410dup (p.Leu1137PhefsTer5) n.3779dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338134del | CA018789 | BRCA2 | c.3779del (p.Leu1260TyrfsTer16) c.3410del (p.Leu1137TyrfsTer16) n.3779del | ClinVar dbSNP |
| 13 | g.32338133_32338134del | CA018795 | BRCA2 | c.3778_3779del (p.Leu1260IlefsTer4) c.3409_3410del (p.Leu1137IlefsTer4) n.3778_3779del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338133T>A | CA387778309 | BRCA2 | c.3778T>A (p.Leu1260Ile) c.3409T>A (p.Leu1137Ile) n.3778T>A | dbSNP |
| 13 | g.32338133T>C | CA483437918 | BRCA2 | c.3778T>C (p.Leu1260=) c.3409T>C (p.Leu1137=) n.3778T>C | ClinVar dbSNP |
| 13 | g.32338133T>G | CA387778311 | BRCA2 | c.3778T>G (p.Leu1260Val) c.3409T>G (p.Leu1137Val) n.3778T>G | |
| 13 | g.32338134T>A | CA387778313 | BRCA2 | c.3779T>A (p.Leu1260Ter) c.3410T>A (p.Leu1137Ter) n.3779T>A | ClinVar dbSNP |
| 13 | g.32338134T>C | CA387778316 | BRCA2 | c.3779T>C (p.Leu1260Ser) c.3410T>C (p.Leu1137Ser) n.3779T>C | |
| 13 | g.32338134T>G | CA387778317 | BRCA2 | c.3779T>G (p.Leu1260Ter) c.3410T>G (p.Leu1137Ter) n.3779T>G | ClinVar dbSNP |
| 13 | g.32338134T= | CA2082820695 | BRCA2 | c.3779T= (p.Leu1260=) c.3410T= (p.Leu1137=) n.3779T= | |
| 13 | g.32338135A>C | CA387778320 | BRCA2 | c.3780A>C (p.Leu1260Phe) c.3411A>C (p.Leu1137Phe) n.3780A>C | |
| 13 | g.32338135A>G | CA483437920 | BRCA2 | c.3780A>G (p.Leu1260=) c.3411A>G (p.Leu1137=) n.3780A>G | |
| 13 | g.32338135A>T | CA387778322 | BRCA2 | c.3780A>T (p.Leu1260Phe) c.3411A>T (p.Leu1137Phe) n.3780A>T | dbSNP |
| 13 | g.32338136T>A | CA387778323 | BRCA2 | c.3781T>A (p.Ser1261Thr) c.3412T>A (p.Ser1138Thr) n.3781T>A | ClinVar dbSNP |
| 13 | g.32338136T>C | CA387778328 | BRCA2 | c.3781T>C (p.Ser1261Pro) c.3412T>C (p.Ser1138Pro) n.3781T>C | dbSNP |
| 13 | g.32338136T>G | CA387778325 | BRCA2 | c.3781T>G (p.Ser1261Ala) c.3412T>G (p.Ser1138Ala) n.3781T>G | |
| 13 | g.32338137C>A | CA387778332 | BRCA2 | c.3782C>A (p.Ser1261Tyr) c.3413C>A (p.Ser1138Tyr) n.3782C>A | dbSNP |
| 13 | g.32338137C= | CA2082820707 | BRCA2 | c.3782C= (p.Ser1261=) c.3413C= (p.Ser1138=) n.3782C= | |
| 13 | g.32338137C>G | CA018805 | BRCA2 | c.3782C>G (p.Ser1261Cys) c.3413C>G (p.Ser1138Cys) n.3782C>G | ClinVar dbSNP |
| 13 | g.32338137C>T | CA387778334 | BRCA2 | c.3782C>T (p.Ser1261Phe) c.3413C>T (p.Ser1138Phe) n.3782C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338138T>A | CA483437922 | BRCA2 | c.3783T>A (p.Ser1261=) c.3414T>A (p.Ser1138=) n.3783T>A | dbSNP |
| 13 | g.32338138T>C | CA483437923 | BRCA2 | c.3783T>C (p.Ser1261=) c.3414T>C (p.Ser1138=) n.3783T>C | dbSNP |
| 13 | g.32338138T>G | CA483437924 | BRCA2 | c.3783T>G (p.Ser1261=) c.3414T>G (p.Ser1138=) n.3783T>G | |
| 13 | g.32338143_32338169del | CA2622600840 | BRCA2 | c.3788_3814del (p.Ser1263_Ser1271del) c.3419_3445del (p.Ser1140_Ser1148del) n.3788_3814del | gnomAD v4 |
| 13 | g.32338139T>A | CA387778338 | BRCA2 | c.3784T>A (p.Ser1262Thr) c.3415T>A (p.Ser1139Thr) n.3784T>A | dbSNP |
| 13 | g.32338139T>C | CA387778340 | BRCA2 | c.3784T>C (p.Ser1262Pro) c.3415T>C (p.Ser1139Pro) n.3784T>C | dbSNP |
| 13 | g.32338139T>G | CA387778342 | BRCA2 | c.3784T>G (p.Ser1262Ala) c.3415T>G (p.Ser1139Ala) n.3784T>G | ClinVar dbSNP |
| 13 | g.32338139T= | CA2082820714 | BRCA2 | c.3784T= (p.Ser1262=) c.3415T= (p.Ser1139=) n.3784T= | |
| 13 | g.32338140C>A | CA387778343 | BRCA2 | c.3785C>A (p.Ser1262Ter) c.3416C>A (p.Ser1139Ter) n.3785C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338140C= | CA2082820724 | BRCA2 | c.3785C= (p.Ser1262=) c.3416C= (p.Ser1139=) n.3785C= | |
| 13 | g.32338140C>G | CA018810 | BRCA2 | c.3785C>G (p.Ser1262Ter) c.3416C>G (p.Ser1139Ter) n.3785C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338140C>T | CA387778346 | BRCA2 | c.3785C>T (p.Ser1262Leu) c.3416C>T (p.Ser1139Leu) n.3785C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338141A= | CA2082820730 | BRCA2 | c.3786A= (p.Ser1262=) c.3417A= (p.Ser1139=) n.3786A= | |
| 13 | g.32338141A>C | CA483437925 | BRCA2 | c.3786A>C (p.Ser1262=) c.3417A>C (p.Ser1139=) n.3786A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338141A>G | CA483437927 | BRCA2 | c.3786A>G (p.Ser1262=) c.3417A>G (p.Ser1139=) n.3786A>G | ClinVar dbSNP |
| 13 | g.32338141A>T | CA16614296 | BRCA2 | c.3786A>T (p.Ser1262=) c.3417A>T (p.Ser1139=) n.3786A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338142A>C | CA387778348 | BRCA2 | c.3787A>C (p.Ser1263Arg) c.3418A>C (p.Ser1140Arg) n.3787A>C | |
| 13 | g.32338142A>G | CA387778350 | BRCA2 | c.3787A>G (p.Ser1263Gly) c.3418A>G (p.Ser1140Gly) n.3787A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338142A>T | CA387778352 | BRCA2 | c.3787A>T (p.Ser1263Cys) c.3418A>T (p.Ser1140Cys) n.3787A>T | dbSNP |
| 13 | g.32338143G>A | CA387778357 | BRCA2 | c.3788G>A (p.Ser1263Asn) c.3419G>A (p.Ser1140Asn) n.3788G>A | ClinVar dbSNP |
| 13 | g.32338143G>C | CA387778354 | BRCA2 | c.3788G>C (p.Ser1263Thr) c.3419G>C (p.Ser1140Thr) n.3788G>C | dbSNP |
| 13 | g.32338143G= | CA2082820737 | BRCA2 | c.3788G= (p.Ser1263=) c.3419G= (p.Ser1140=) n.3788G= | |
| 13 | g.32338143G>T | CA387778356 | BRCA2 | c.3788G>T (p.Ser1263Ile) c.3419G>T (p.Ser1140Ile) n.3788G>T | dbSNP |
| 13 | g.32338144T>A | CA387778359 | BRCA2 | c.3789T>A (p.Ser1263Arg) c.3420T>A (p.Ser1140Arg) n.3789T>A | |
| 13 | g.32338144T>C | CA10579589 | BRCA2 | c.3789T>C (p.Ser1263=) c.3420T>C (p.Ser1140=) n.3789T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338144T>G | CA387778362 | BRCA2 | c.3789T>G (p.Ser1263Arg) c.3420T>G (p.Ser1140Arg) n.3789T>G | |
| 13 | g.32338144T= | CA2082820767 | BRCA2 | c.3789T= (p.Ser1263=) c.3420T= (p.Ser1140=) n.3789T= | |
| 13 | g.32338145A>C | CA387778364 | BRCA2 | c.3790A>C (p.Lys1264Gln) c.3421A>C (p.Lys1141Gln) n.3790A>C | |
| 13 | g.32338145A>G | CA387778366 | BRCA2 | c.3790A>G (p.Lys1264Glu) c.3421A>G (p.Lys1141Glu) n.3790A>G | dbSNP |
| 13 | g.32338145A>T | CA387778367 | BRCA2 | c.3790A>T (p.Lys1264Ter) c.3421A>T (p.Lys1141Ter) n.3790A>T | dbSNP |
| 13 | g.32338145_32338155delinsTTATC | CA2580087226 | BRCA2 | c.3790_3800delinsTTATC (p.Lys1264_Asp1267delinsLeuSer) c.3421_3431delinsTTATC (p.Lys1141_Asp1144delinsLeuSer) n.3790_3800delinsTTATC | ClinVar |
| 13 | g.32338146A>C | CA387778369 | BRCA2 | c.3791A>C (p.Lys1264Thr) c.3422A>C (p.Lys1141Thr) n.3791A>C | |
| 13 | g.32338146A>G | CA387778370 | BRCA2 | c.3791A>G (p.Lys1264Arg) c.3422A>G (p.Lys1141Arg) n.3791A>G | gnomAD v4 COSMIC COSMIC |
| 13 | g.32338146A>T | CA387778372 | BRCA2 | c.3791A>T (p.Lys1264Ile) c.3422A>T (p.Lys1141Ile) n.3791A>T | dbSNP |
| 13 | g.32338147A= | CA2082820770 | BRCA2 | c.3792A= (p.Lys1264=) c.3423A= (p.Lys1141=) n.3792A= | |
| 13 | g.32338147A>C | CA387778374 | BRCA2 | c.3792A>C (p.Lys1264Asn) c.3423A>C (p.Lys1141Asn) n.3792A>C | |
| 13 | g.32338147A>G | CA483437933 | BRCA2 | c.3792A>G (p.Lys1264=) c.3423A>G (p.Lys1141=) n.3792A>G | ClinVar dbSNP |
| 13 | g.32338147A>T | CA387778375 | BRCA2 | c.3792A>T (p.Lys1264Asn) c.3423A>T (p.Lys1141Asn) n.3792A>T | dbSNP |
| 13 | g.32338148T>A | CA276189 | BRCA2 | c.3793T>A (p.Cys1265Ser) c.3424T>A (p.Cys1142Ser) n.3793T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338148T>C | CA387778379 | BRCA2 | c.3793T>C (p.Cys1265Arg) c.3424T>C (p.Cys1142Arg) n.3793T>C | dbSNP |
| 13 | g.32338148T>G | CA387778377 | BRCA2 | c.3793T>G (p.Cys1265Gly) c.3424T>G (p.Cys1142Gly) n.3793T>G | |
| 13 | g.32338148T= | CA2082820775 | BRCA2 | c.3793T= (p.Cys1265=) c.3424T= (p.Cys1142=) n.3793T= | |
| 13 | g.32338149G>A | CA387778387 | BRCA2 | c.3794G>A (p.Cys1265Tyr) c.3425G>A (p.Cys1142Tyr) n.3794G>A | ClinVar dbSNP |
| 13 | g.32338149G>C | CA387778388 | BRCA2 | c.3794G>C (p.Cys1265Ser) c.3425G>C (p.Cys1142Ser) n.3794G>C | ClinVar dbSNP |
| 13 | g.32338149G= | CA2082820789 | BRCA2 | c.3794G= (p.Cys1265=) c.3425G= (p.Cys1142=) n.3794G= | |
| 13 | g.32338149G>T | CA018818 | BRCA2 | c.3794G>T (p.Cys1265Phe) c.3425G>T (p.Cys1142Phe) n.3794G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338150T>A | CA387778391 | BRCA2 | c.3795T>A (p.Cys1265Ter) c.3426T>A (p.Cys1142Ter) n.3795T>A | ClinVar dbSNP |
| 13 | g.32338150T>C | CA483437937 | BRCA2 | c.3795T>C (p.Cys1265=) c.3426T>C (p.Cys1142=) n.3795T>C | gnomAD v4 |
| 13 | g.32338150T>G | CA387778392 | BRCA2 | c.3795T>G (p.Cys1265Trp) c.3426T>G (p.Cys1142Trp) n.3795T>G | |
| 13 | g.32338151C>A | CA387778393 | BRCA2 | c.3796C>A (p.His1266Asn) c.3427C>A (p.His1143Asn) n.3796C>A | dbSNP gnomAD v4 |
| 13 | g.32338151C= | CA2082820795 | BRCA2 | c.3796C= (p.His1266=) c.3427C= (p.His1143=) n.3796C= | |
| 13 | g.32338151C>G | CA387778394 | BRCA2 | c.3796C>G (p.His1266Asp) c.3427C>G (p.His1143Asp) n.3796C>G | dbSNP |
| 13 | g.32338151C>T | CA387778395 | BRCA2 | c.3796C>T (p.His1266Tyr) c.3427C>T (p.His1143Tyr) n.3796C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338152A= | CA2082820801 | BRCA2 | c.3797A= (p.His1266=) c.3428A= (p.His1143=) n.3797A= | |
| 13 | g.32338152A>C | CA387778397 | BRCA2 | c.3797A>C (p.His1266Pro) c.3428A>C (p.His1143Pro) n.3797A>C | |
| 13 | g.32338152A>G | CA387778398 | BRCA2 | c.3797A>G (p.His1266Arg) c.3428A>G (p.His1143Arg) n.3797A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338152A>T | CA387778400 | BRCA2 | c.3797A>T (p.His1266Leu) c.3428A>T (p.His1143Leu) n.3797A>T | ClinVar dbSNP |
| 13 | g.32338154_32338156del | CA2580087227 | BRCA2 | c.3799_3801del (p.Asp1267del) c.3430_3432del (p.Asp1144del) n.3799_3801del | ClinVar |
| 13 | g.32338153T>A | CA387778401 | BRCA2 | c.3798T>A (p.His1266Gln) c.3429T>A (p.His1143Gln) n.3798T>A | |
| 13 | g.32338153T>C | CA483437940 | BRCA2 | c.3798T>C (p.His1266=) c.3429T>C (p.His1143=) n.3798T>C | ClinVar dbSNP |
| 13 | g.32338153T>G | CA387778403 | BRCA2 | c.3798T>G (p.His1266Gln) c.3429T>G (p.His1143Gln) n.3798T>G | |
| 13 | g.32338153T= | CA2082820809 | BRCA2 | c.3798T= (p.His1266=) c.3429T= (p.His1143=) n.3798T= | |
| 13 | g.32338154G>A | CA387778407 | BRCA2 | c.3799G>A (p.Asp1267Asn) c.3430G>A (p.Asp1144Asn) n.3799G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338154G>C | CA387778405 | BRCA2 | c.3799G>C (p.Asp1267His) c.3430G>C (p.Asp1144His) n.3799G>C | dbSNP |
| 13 | g.32338154G= | CA2082820814 | BRCA2 | c.3799G= (p.Asp1267=) c.3430G= (p.Asp1144=) n.3799G= | |
| 13 | g.32338154G>T | CA387778404 | BRCA2 | c.3799G>T (p.Asp1267Tyr) c.3430G>T (p.Asp1144Tyr) n.3799G>T | dbSNP COSMIC COSMIC |
| 13 | g.32338155A= | CA2082820820 | BRCA2 | c.3800A= (p.Asp1267=) c.3431A= (p.Asp1144=) n.3800A= | |
| 13 | g.32338155A>C | CA387778409 | BRCA2 | c.3800A>C (p.Asp1267Ala) c.3431A>C (p.Asp1144Ala) n.3800A>C | |
| 13 | g.32338155A>G | CA387778411 | BRCA2 | c.3800A>G (p.Asp1267Gly) c.3431A>G (p.Asp1144Gly) n.3800A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338155A>T | CA387778412 | BRCA2 | c.3800A>T (p.Asp1267Val) c.3431A>T (p.Asp1144Val) n.3800A>T | dbSNP |
| 13 | g.32338156T>A | CA387778414 | BRCA2 | c.3801T>A (p.Asp1267Glu) c.3432T>A (p.Asp1144Glu) n.3801T>A | dbSNP |
| 13 | g.32338156T>C | CA483437941 | BRCA2 | c.3801T>C (p.Asp1267=) c.3432T>C (p.Asp1144=) n.3801T>C | dbSNP gnomAD v4 |
| 13 | g.32338156T>G | CA387778416 | BRCA2 | c.3801T>G (p.Asp1267Glu) c.3432T>G (p.Asp1144Glu) n.3801T>G | dbSNP |
| 13 | g.32338157T>A | CA6940726 | BRCA2 | c.3802T>A (p.Ser1268Thr) c.3433T>A (p.Ser1145Thr) n.3802T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338157T>C | CA387778418 | BRCA2 | c.3802T>C (p.Ser1268Pro) c.3433T>C (p.Ser1145Pro) n.3802T>C | ClinVar |
| 13 | g.32338157T>G | CA387778420 | BRCA2 | c.3802T>G (p.Ser1268Ala) c.3433T>G (p.Ser1145Ala) n.3802T>G | dbSNP |
| 13 | g.32338157T= | CA2082820827 | BRCA2 | c.3802T= (p.Ser1268=) c.3433T= (p.Ser1145=) n.3802T= | |
| 13 | g.32338158_32338159del | CA2580087228 | BRCA2 | c.3803_3804del (p.Ser1268CysfsTer6) c.3434_3435del (p.Ser1145CysfsTer6) n.3803_3804del | ClinVar |
| 13 | g.32338158C>A | CA387778422 | BRCA2 | c.3803C>A (p.Ser1268Tyr) c.3434C>A (p.Ser1145Tyr) n.3803C>A | gnomAD v4 COSMIC COSMIC |
| 13 | g.32338158C= | CA2082820846 | BRCA2 | c.3803C= (p.Ser1268=) c.3434C= (p.Ser1145=) n.3803C= | |
| 13 | g.32338158C>G | CA387778424 | BRCA2 | c.3803C>G (p.Ser1268Cys) c.3434C>G (p.Ser1145Cys) n.3803C>G | dbSNP |
| 13 | g.32338158C>T | CA10579590 | BRCA2 | c.3803C>T (p.Ser1268Phe) c.3434C>T (p.Ser1145Phe) n.3803C>T | ClinVar dbSNP |
| 13 | g.32338158_32338161delinsCTGT | CA2082820838 | BRCA2 | c.3803_3806delinsCTGT (p.Ser1268=) c.3434_3437delinsCTGT (p.Ser1145=) n.3803_3806delinsCTGT | |
| 13 | g.32338159T>A | CA483437943 | BRCA2 | c.3804T>A (p.Ser1268=) c.3435T>A (p.Ser1145=) n.3804T>A | dbSNP gnomAD v4 |
| 13 | g.32338159T>C | CA483437944 | BRCA2 | c.3804T>C (p.Ser1268=) c.3435T>C (p.Ser1145=) n.3804T>C | dbSNP gnomAD v4 |
| 13 | g.32338159T>G | CA483437946 | BRCA2 | c.3804T>G (p.Ser1268=) c.3435T>G (p.Ser1145=) n.3804T>G | |
| 13 | g.32338163_32338165del | CA018850 | BRCA2 | c.3808_3810del (p.Val1270del) c.3439_3441del (p.Val1147del) n.3808_3810del | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32338160G>A | CA387778429 | BRCA2 | c.3805G>A (p.Val1269Ile) c.3436G>A (p.Val1146Ile) n.3805G>A | |
| 13 | g.32338160G>C | CA387778427 | BRCA2 | c.3805G>C (p.Val1269Leu) c.3436G>C (p.Val1146Leu) n.3805G>C | |
| 13 | g.32338160G= | CA2082820861 | BRCA2 | c.3805G= (p.Val1269=) c.3436G= (p.Val1146=) n.3805G= | |
| 13 | g.32338160G>T | CA6940727 | BRCA2 | c.3805G>T (p.Val1269Phe) c.3436G>T (p.Val1146Phe) n.3805G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338161T>A | CA387778433 | BRCA2 | c.3806T>A (p.Val1269Asp) c.3437T>A (p.Val1146Asp) n.3806T>A | |
| 13 | g.32338161T>C | CA387778431 | BRCA2 | c.3806T>C (p.Val1269Ala) c.3437T>C (p.Val1146Ala) n.3806T>C | |
| 13 | g.32338161T>G | CA387778435 | BRCA2 | c.3806T>G (p.Val1269Gly) c.3437T>G (p.Val1146Gly) n.3806T>G | |
| 13 | g.32338161_32338163delinsTTG | CA2082820878 | BRCA2 | c.3806_3808delinsTTG (p.Val1269=) c.3437_3439delinsTTG (p.Val1146=) n.3806_3808delinsTTG | |
| 13 | g.32338161_32338162insCGTTTCAA | CA2573332129 | BRCA2 | c.3806_3807insCGTTTCAA (p.Lys1274GlnfsTer5) c.3437_3438insCGTTTCAA (p.Lys1151GlnfsTer5) n.3806_3807insCGTTTCAA | |
| 13 | g.32338162T>A | CA483437947 | BRCA2 | c.3807T>A (p.Val1269=) c.3438T>A (p.Val1146=) n.3807T>A | gnomAD v4 |
| 13 | g.32338162T>C | CA018842 | BRCA2 | c.3807T>C (p.Val1269=) c.3438T>C (p.Val1146=) n.3807T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338162T>G | CA018847 | BRCA2 | c.3807T>G (p.Val1269=) c.3438T>G (p.Val1146=) n.3807T>G | ClinVar dbSNP |
| 13 | g.32338162T= | CA1630855868 | BRCA2 | c.3807T= (p.Val1269=) c.3438T= (p.Val1146=) n.3807T= | |
| 13 | g.32338162_32338163delinsCA | CA334444 | BRCA2 | c.3807_3808delinsCA (p.Val1270Ile) c.3438_3439delinsCA (p.Val1147Ile) n.3807_3808delinsCA | ClinVar dbSNP |
| 13 | g.32338162_32338163delinsTG | CA2082820901 | BRCA2 | c.3807_3808delinsTG (p.Val1269=) c.3438_3439delinsTG (p.Val1146=) n.3807_3808delinsTG | |
| 13 | g.32338163_32338164del | CA10586516 | BRCA2 | c.3808_3809del (p.Val1270PhefsTer4) c.3439_3440del (p.Val1147PhefsTer4) n.3808_3809del | ClinVar dbSNP |
| 13 | g.32338163G>A | CA10579591 | BRCA2 | c.3808G>A (p.Val1270Ile) c.3439G>A (p.Val1147Ile) n.3808G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338163G>C | CA387778439 | BRCA2 | c.3808G>C (p.Val1270Leu) c.3439G>C (p.Val1147Leu) n.3808G>C | dbSNP |
| 13 | g.32338163G= | CA2082820911 | BRCA2 | c.3808G= (p.Val1270=) c.3439G= (p.Val1147=) n.3808G= | |
| 13 | g.32338163G>T | CA387778441 | BRCA2 | c.3808G>T (p.Val1270Phe) c.3439G>T (p.Val1147Phe) n.3808G>T | ClinVar dbSNP |
| 13 | g.32338163_32338164delinsGT | CA2082820912 | BRCA2 | c.3808_3809delinsGT (p.Val1270=) c.3439_3440delinsGT (p.Val1147=) n.3808_3809delinsGT | |
| 13 | g.32338164T>A | CA387778442 | BRCA2 | c.3809T>A (p.Val1270Asp) c.3440T>A (p.Val1147Asp) n.3809T>A | dbSNP |
| 13 | g.32338164T>C | CA387778444 | BRCA2 | c.3809T>C (p.Val1270Ala) c.3440T>C (p.Val1147Ala) n.3809T>C | ClinVar dbSNP |
| 13 | g.32338164T>G | CA387778445 | BRCA2 | c.3809T>G (p.Val1270Gly) c.3440T>G (p.Val1147Gly) n.3809T>G | dbSNP |
| 13 | g.32338164T= | CA2082820921 | BRCA2 | c.3809T= (p.Val1270=) c.3440T= (p.Val1147=) n.3809T= | |
| 13 | g.32338166del | CA658656322 | BRCA2 | c.3811del (p.Ser1271GlnfsTer5) c.3442del (p.Ser1148GlnfsTer5) n.3811del | ClinVar dbSNP |
| 13 | g.32338165T>A | CA483437950 | BRCA2 | c.3810T>A (p.Val1270=) c.3441T>A (p.Val1147=) n.3810T>A | dbSNP |
| 13 | g.32338165T>C | CA483437951 | BRCA2 | c.3810T>C (p.Val1270=) c.3441T>C (p.Val1147=) n.3810T>C | ClinVar dbSNP |
| 13 | g.32338165T>G | CA483437952 | BRCA2 | c.3810T>G (p.Val1270=) c.3441T>G (p.Val1147=) n.3810T>G | dbSNP |
| 13 | g.32338166T>A | CA387778448 | BRCA2 | c.3811T>A (p.Ser1271Thr) c.3442T>A (p.Ser1148Thr) n.3811T>A | dbSNP |
| 13 | g.32338166T>C | CA387778449 | BRCA2 | c.3811T>C (p.Ser1271Pro) c.3442T>C (p.Ser1148Pro) n.3811T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338166T>G | CA387778451 | BRCA2 | c.3811T>G (p.Ser1271Ala) c.3442T>G (p.Ser1148Ala) n.3811T>G | ClinVar |
| 13 | g.32338166T= | CA2082820923 | BRCA2 | c.3811T= (p.Ser1271=) c.3442T= (p.Ser1148=) n.3811T= | |
| 13 | g.32338167C>A | CA018857 | BRCA2 | c.3812C>A (p.Ser1271Ter) c.3443C>A (p.Ser1148Ter) n.3812C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338167C= | CA2082820934 | BRCA2 | c.3812C= (p.Ser1271=) c.3443C= (p.Ser1148=) n.3812C= | |
| 13 | g.32338167C>G | CA10589223 | BRCA2 | c.3812C>G (p.Ser1271Ter) c.3443C>G (p.Ser1148Ter) n.3812C>G | ClinVar dbSNP |
| 13 | g.32338167C>T | CA387778453 | BRCA2 | c.3812C>T (p.Ser1271Leu) c.3443C>T (p.Ser1148Leu) n.3812C>T | dbSNP |
| 13 | g.32338168A= | CA2082820936 | BRCA2 | c.3813A= (p.Ser1271=) c.3444A= (p.Ser1148=) n.3813A= | |
| 13 | g.32338168A>C | CA483437953 | BRCA2 | c.3813A>C (p.Ser1271=) c.3444A>C (p.Ser1148=) n.3813A>C | ClinVar |
| 13 | g.32338168A>G | CA483437954 | BRCA2 | c.3813A>G (p.Ser1271=) c.3444A>G (p.Ser1148=) n.3813A>G | ClinVar dbSNP |
| 13 | g.32338168A>T | CA483437955 | BRCA2 | c.3813A>T (p.Ser1271=) c.3444A>T (p.Ser1148=) n.3813A>T | dbSNP |
| 13 | g.32338168_32338169insC | CA658823697 | BRCA2 | c.3813_3814insC (p.Met1272HisfsTer3) c.3444_3445insC (p.Met1149HisfsTer3) n.3813_3814insC | ClinVar dbSNP |
| 13 | g.32338169A= | CA2082820943 | BRCA2 | c.3814A= (p.Met1272=) c.3445A= (p.Met1149=) n.3814A= | |
| 13 | g.32338169A>C | CA387778456 | BRCA2 | c.3814A>C (p.Met1272Leu) c.3445A>C (p.Met1149Leu) n.3814A>C | |
| 13 | g.32338169A>G | CA018861 | BRCA2 | c.3814A>G (p.Met1272Val) c.3445A>G (p.Met1149Val) n.3814A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338169A>T | CA387778458 | BRCA2 | c.3814A>T (p.Met1272Leu) c.3445A>T (p.Met1149Leu) n.3814A>T | ClinVar dbSNP |
| 13 | g.32338169_32338170insC | CA10589224 | BRCA2 | c.3814_3815insC (p.Met1272ThrfsTer3) c.3445_3446insC (p.Met1149ThrfsTer3) n.3814_3815insC | ClinVar dbSNP |
| 13 | g.32338170T>A | CA387778463 | BRCA2 | c.3815T>A (p.Met1272Lys) c.3446T>A (p.Met1149Lys) n.3815T>A | dbSNP |
| 13 | g.32338170T>C | CA387778462 | BRCA2 | c.3815T>C (p.Met1272Thr) c.3446T>C (p.Met1149Thr) n.3815T>C | dbSNP gnomAD v4 |
| 13 | g.32338170T>G | CA387778460 | BRCA2 | c.3815T>G (p.Met1272Arg) c.3446T>G (p.Met1149Arg) n.3815T>G | |
| 13 | g.32338171G>A | CA387778464 | BRCA2 | c.3816G>A (p.Met1272Ile) c.3447G>A (p.Met1149Ile) n.3816G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338171G>C | CA387778465 | BRCA2 | c.3816G>C (p.Met1272Ile) c.3447G>C (p.Met1149Ile) n.3816G>C | ClinVar dbSNP |
| 13 | g.32338171G= | CA2082820952 | BRCA2 | c.3816G= (p.Met1272=) c.3447G= (p.Met1149=) n.3816G= | |
| 13 | g.32338171G>T | CA387778466 | BRCA2 | c.3816G>T (p.Met1272Ile) c.3447G>T (p.Met1149Ile) n.3816G>T | |
| 13 | g.32338172T>A | CA387778467 | BRCA2 | c.3817T>A (p.Phe1273Ile) c.3448T>A (p.Phe1150Ile) n.3817T>A | dbSNP gnomAD v4 |
| 13 | g.32338172T>C | CA387778469 | BRCA2 | c.3817T>C (p.Phe1273Leu) c.3448T>C (p.Phe1150Leu) n.3817T>C | dbSNP COSMIC COSMIC |
| 13 | g.32338172T>G | CA387778471 | BRCA2 | c.3817T>G (p.Phe1273Val) c.3448T>G (p.Phe1150Val) n.3817T>G | dbSNP |
| 13 | g.32338174dup | CA10589225 | BRCA2 | c.3819dup (p.Lys1274Ter) c.3450dup (p.Lys1151Ter) n.3819dup | ClinVar dbSNP |
| 13 | g.32338173T>A | CA387778473 | BRCA2 | c.3818T>A (p.Phe1273Tyr) c.3449T>A (p.Phe1150Tyr) n.3818T>A | dbSNP |
| 13 | g.32338173T>C | CA387778475 | BRCA2 | c.3818T>C (p.Phe1273Ser) c.3449T>C (p.Phe1150Ser) n.3818T>C | dbSNP |
| 13 | g.32338173T>G | CA387778474 | BRCA2 | c.3818T>G (p.Phe1273Cys) c.3449T>G (p.Phe1150Cys) n.3818T>G | |
| 13 | g.32338174T>A | CA387778477 | BRCA2 | c.3819T>A (p.Phe1273Leu) c.3450T>A (p.Phe1150Leu) n.3819T>A | |
| 13 | g.32338174T>C | CA483437959 | BRCA2 | c.3819T>C (p.Phe1273=) c.3450T>C (p.Phe1150=) n.3819T>C | |
| 13 | g.32338174T>G | CA387778479 | BRCA2 | c.3819T>G (p.Phe1273Leu) c.3450T>G (p.Phe1150Leu) n.3819T>G | |
| 13 | g.32338174_32338178delinsTAAGA | CA2082820968 | BRCA2 | c.3819_3823delinsTAAGA (p.Phe1273=) c.3450_3454delinsTAAGA (p.Phe1150=) n.3819_3823delinsTAAGA | |
| 13 | g.32338175A>C | CA387778480 | BRCA2 | c.3820A>C (p.Lys1274Gln) c.3451A>C (p.Lys1151Gln) n.3820A>C | gnomAD v4 |
| 13 | g.32338175A>G | CA387778481 | BRCA2 | c.3820A>G (p.Lys1274Glu) c.3451A>G (p.Lys1151Glu) n.3820A>G | ClinVar dbSNP |
| 13 | g.32338175A>T | CA387778483 | BRCA2 | c.3820A>T (p.Lys1274Ter) c.3451A>T (p.Lys1151Ter) n.3820A>T | dbSNP |
| 13 | g.32338176del | CA2499222145 | BRCA2 | c.3821del (p.Lys1274ArgfsTer2) c.3452del (p.Lys1151ArgfsTer2) n.3821del | |
| 13 | g.32338175_32338178del | CA018870 | BRCA2 | c.3820_3823del (p.Lys1274Ter) c.3451_3454del (p.Lys1151Ter) n.3820_3823del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338175_32338179delinsAAGAT | CA2082820989 | BRCA2 | c.3820_3824delinsAAGAT (p.Lys1274=) c.3451_3455delinsAAGAT (p.Lys1151=) n.3820_3824delinsAAGAT | |
| 13 | g.32338176A= | CA2082820996 | BRCA2 | c.3821A= (p.Lys1274=) c.3452A= (p.Lys1151=) n.3821A= | |
| 13 | g.32338176A>C | CA387778485 | BRCA2 | c.3821A>C (p.Lys1274Thr) c.3452A>C (p.Lys1151Thr) n.3821A>C | |
| 13 | g.32338176A>G | CA387778486 | BRCA2 | c.3821A>G (p.Lys1274Arg) c.3452A>G (p.Lys1151Arg) n.3821A>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338176A>T | CA387778488 | BRCA2 | c.3821A>T (p.Lys1274Met) c.3452A>T (p.Lys1151Met) n.3821A>T | dbSNP |
| 13 | g.32338179_32338182dup | CA2499222146 | BRCA2 | c.3824_3827dup (p.Glu1276AspfsTer5) c.3455_3458dup (p.Glu1153AspfsTer5) n.3824_3827dup | ClinVar dbSNP |
| 13 | g.32338179_32338182del | CA018874 | BRCA2 | c.3824_3827del (p.Ile1275LysfsTer8) c.3455_3458del (p.Ile1152LysfsTer8) n.3824_3827del | ClinVar dbSNP |
| 13 | g.32338177G>A | CA483437963 | BRCA2 | c.3822G>A (p.Lys1274=) c.3453G>A (p.Lys1151=) n.3822G>A | ClinVar dbSNP |
| 13 | g.32338177G>C | CA387778491 | BRCA2 | c.3822G>C (p.Lys1274Asn) c.3453G>C (p.Lys1151Asn) n.3822G>C | ClinVar dbSNP |
| 13 | g.32338177G= | CA2082821013 | BRCA2 | c.3822G= (p.Lys1274=) c.3453G= (p.Lys1151=) n.3822G= | |
| 13 | g.32338177G>T | CA387778493 | BRCA2 | c.3822G>T (p.Lys1274Asn) c.3453G>T (p.Lys1151Asn) n.3822G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338177_32338179delinsGAT | CA2082821018 | BRCA2 | c.3822_3824delinsGAT (p.Lys1274=) c.3453_3455delinsGAT (p.Lys1151=) n.3822_3824delinsGAT | |
| 13 | g.32338178A>C | CA387778498 | BRCA2 | c.3823A>C (p.Ile1275Leu) c.3454A>C (p.Ile1152Leu) n.3823A>C | |
| 13 | g.32338178A>G | CA387778495 | BRCA2 | c.3823A>G (p.Ile1275Val) c.3454A>G (p.Ile1152Val) n.3823A>G | ClinVar dbSNP |
| 13 | g.32338178A>T | CA387778497 | BRCA2 | c.3823A>T (p.Ile1275Leu) c.3454A>T (p.Ile1152Leu) n.3823A>T | dbSNP |
| 13 | g.32338178dup | CA2573149340 | BRCA2 | c.3823dup (p.Ile1275AsnfsTer5) c.3454dup (p.Ile1152AsnfsTer5) n.3823dup | ClinVar dbSNP |
| 13 | g.32338179_32338180del | CA658656323 | BRCA2 | c.3824_3825del (p.Ile1275ArgfsTer4) c.3455_3456del (p.Ile1152ArgfsTer4) n.3824_3825del | ClinVar dbSNP |
| 13 | g.32338179T>A | CA387778500 | BRCA2 | c.3824T>A (p.Ile1275Lys) c.3455T>A (p.Ile1152Lys) n.3824T>A | |
| 13 | g.32338179T>C | CA018880 | BRCA2 | c.3824T>C (p.Ile1275Thr) c.3455T>C (p.Ile1152Thr) n.3824T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338179T>G | CA387778502 | BRCA2 | c.3824T>G (p.Ile1275Arg) c.3455T>G (p.Ile1152Arg) n.3824T>G | |
| 13 | g.32338179T= | CA2082821028 | BRCA2 | c.3824T= (p.Ile1275=) c.3455T= (p.Ile1152=) n.3824T= | |
| 13 | g.32338180A>C | CA483437964 | BRCA2 | c.3825A>C (p.Ile1275=) c.3456A>C (p.Ile1152=) n.3825A>C | |
| 13 | g.32338180A>G | CA387778504 | BRCA2 | c.3825A>G (p.Ile1275Met) c.3456A>G (p.Ile1152Met) n.3825A>G | dbSNP gnomAD v4 |
| 13 | g.32338180A>T | CA483437967 | BRCA2 | c.3825A>T (p.Ile1275=) c.3456A>T (p.Ile1152=) n.3825A>T | dbSNP |
| 13 | g.32338181G>A | CA387778506 | BRCA2 | c.3826G>A (p.Glu1276Lys) c.3457G>A (p.Glu1153Lys) n.3826G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338181G>C | CA10583095 | BRCA2 | c.3826G>C (p.Glu1276Gln) c.3457G>C (p.Glu1153Gln) n.3826G>C | ClinVar dbSNP |
| 13 | g.32338181G= | CA2082821035 | BRCA2 | c.3826G= (p.Glu1276=) c.3457G= (p.Glu1153=) n.3826G= | |
| 13 | g.32338181G>T | CA387778508 | BRCA2 | c.3826G>T (p.Glu1276Ter) c.3457G>T (p.Glu1153Ter) n.3826G>T | ClinVar dbSNP |
| 13 | g.32338181_32338183delinsGAA | CA2082821039 | BRCA2 | c.3826_3828delinsGAA (p.Glu1276=) c.3457_3459delinsGAA (p.Glu1153=) n.3826_3828delinsGAA | |
| 13 | g.32338182A= | CA2082821050 | BRCA2 | c.3827A= (p.Glu1276=) c.3458A= (p.Glu1153=) n.3827A= | |
| 13 | g.32338182A>C | CA387778512 | BRCA2 | c.3827A>C (p.Glu1276Ala) c.3458A>C (p.Glu1153Ala) n.3827A>C | dbSNP |
| 13 | g.32338182A>G | CA387778517 | BRCA2 | c.3827A>G (p.Glu1276Gly) c.3458A>G (p.Glu1153Gly) n.3827A>G | ClinVar dbSNP |
| 13 | g.32338182A>T | CA16613956 | BRCA2 | c.3827A>T (p.Glu1276Val) c.3458A>T (p.Glu1153Val) n.3827A>T | ClinVar dbSNP |
| 13 | g.32338185dup | CA2580612212 | BRCA2 | c.3830dup (p.Asn1277LysfsTer3) c.3461dup (p.Asn1154LysfsTer3) n.3830dup | |
| 13 | g.32338185del | CA018884 | BRCA2 | c.3830del (p.Asn1277IlefsTer7) c.3461del (p.Asn1154IlefsTer7) n.3830del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338184_32338185del | CA10589226 | BRCA2 | c.3829_3830del (p.Asn1277SerfsTer2) c.3460_3461del (p.Asn1154SerfsTer2) n.3829_3830del | ClinVar dbSNP |
| 13 | g.32338183A= | CA2082821082 | BRCA2 | c.3828A= (p.Glu1276=) c.3459A= (p.Glu1153=) n.3828A= | |
| 13 | g.32338183A>C | CA387778519 | BRCA2 | c.3828A>C (p.Glu1276Asp) c.3459A>C (p.Glu1153Asp) n.3828A>C | |
| 13 | g.32338183A>G | CA16613959 | BRCA2 | c.3828A>G (p.Glu1276=) c.3459A>G (p.Glu1153=) n.3828A>G | ClinVar dbSNP |
| 13 | g.32338183A>T | CA387778520 | BRCA2 | c.3828A>T (p.Glu1276Asp) c.3459A>T (p.Glu1153Asp) n.3828A>T | dbSNP |
| 13 | g.32338183_32338189delinsAAATCAT | CA2082821084 | BRCA2 | c.3828_3834delinsAAATCAT (p.Glu1276=) c.3459_3465delinsAAATCAT (p.Glu1153=) n.3828_3834delinsAAATCAT | |
| 13 | g.32338184A>C | CA387778525 | BRCA2 | c.3829A>C (p.Asn1277His) c.3460A>C (p.Asn1154His) n.3829A>C | dbSNP |
| 13 | g.32338184A>G | CA387778522 | BRCA2 | c.3829A>G (p.Asn1277Asp) c.3460A>G (p.Asn1154Asp) n.3829A>G | ClinVar |
| 13 | g.32338184A>T | CA387778523 | BRCA2 | c.3829A>T (p.Asn1277Tyr) c.3460A>T (p.Asn1154Tyr) n.3829A>T | |
| 13 | g.32338187_32338192del | CA697331526 | BRCA2 | c.3832_3837del (p.His1278_Asn1279del) c.3463_3468del (p.His1155_Asn1156del) n.3832_3837del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338185A>C | CA387778529 | BRCA2 | c.3830A>C (p.Asn1277Thr) c.3461A>C (p.Asn1154Thr) n.3830A>C | |
| 13 | g.32338185A>G | CA387778530 | BRCA2 | c.3830A>G (p.Asn1277Ser) c.3461A>G (p.Asn1154Ser) n.3830A>G | dbSNP |
| 13 | g.32338185A>T | CA387778532 | BRCA2 | c.3830A>T (p.Asn1277Ile) c.3461A>T (p.Asn1154Ile) n.3830A>T | dbSNP |
| 13 | g.32338186T>A | CA387778534 | BRCA2 | c.3831T>A (p.Asn1277Lys) c.3462T>A (p.Asn1154Lys) n.3831T>A | dbSNP |
| 13 | g.32338186T>C | CA483437974 | BRCA2 | c.3831T>C (p.Asn1277=) c.3462T>C (p.Asn1154=) n.3831T>C | dbSNP |
| 13 | g.32338186T>G | CA10585894 | BRCA2 | c.3831T>G (p.Asn1277Lys) c.3462T>G (p.Asn1154Lys) n.3831T>G | ClinVar dbSNP |
| 13 | g.32338186T= | CA2082821097 | BRCA2 | c.3831T= (p.Asn1277=) c.3462T= (p.Asn1154=) n.3831T= | |
| 13 | g.32338187C>A | CA387778536 | BRCA2 | c.3832C>A (p.His1278Asn) c.3463C>A (p.His1155Asn) n.3832C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338187C= | CA2082821125 | BRCA2 | c.3832C= (p.His1278=) c.3463C= (p.His1155=) n.3832C= | |
| 13 | g.32338187C>G | CA387778538 | BRCA2 | c.3832C>G (p.His1278Asp) c.3463C>G (p.His1155Asp) n.3832C>G | dbSNP |
| 13 | g.32338187C>T | CA387778540 | BRCA2 | c.3832C>T (p.His1278Tyr) c.3463C>T (p.His1155Tyr) n.3832C>T | dbSNP |
| 13 | g.32338187_32338189delinsCAT | CA2082821120 | BRCA2 | c.3832_3834delinsCAT (p.His1278=) c.3463_3465delinsCAT (p.His1155=) n.3832_3834delinsCAT | |
| 13 | g.32338187_32338190delinsCATA | CA2082821104 | BRCA2 | c.3832_3835delinsCATA (p.His1278=) c.3463_3466delinsCATA (p.His1155=) n.3832_3835delinsCATA | |
| 13 | g.32338188A= | CA2082821139 | BRCA2 | c.3833A= (p.His1278=) c.3464A= (p.His1155=) n.3833A= | |
| 13 | g.32338188A>C | CA387778544 | BRCA2 | c.3833A>C (p.His1278Pro) c.3464A>C (p.His1155Pro) n.3833A>C | |
| 13 | g.32338188A>G | CA387778543 | BRCA2 | c.3833A>G (p.His1278Arg) c.3464A>G (p.His1155Arg) n.3833A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338188A>T | CA387778542 | BRCA2 | c.3833A>T (p.His1278Leu) c.3464A>T (p.His1155Leu) n.3833A>T | dbSNP |
| 13 | g.32338189_32338190del | CA10575917 | BRCA2 | c.3834_3835del (p.His1278GlnfsTer2) c.3465_3466del (p.His1155GlnfsTer2) n.3834_3835del | ClinVar dbSNP |
| 13 | g.32338190_32338192del | CA348712 | BRCA2 | c.3835_3837del (p.Asn1279del) c.3466_3468del (p.Asn1156del) n.3835_3837del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338192_32338197del | CA2573149344 | BRCA2 | c.3837_3842del (p.Asn1279_Asp1280del) c.3468_3473del (p.Asn1156_Asp1157del) n.3837_3842del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338189T>A | CA387778548 | BRCA2 | c.3834T>A (p.His1278Gln) c.3465T>A (p.His1155Gln) n.3834T>A | ClinVar gnomAD v4 |
| 13 | g.32338189T>C | CA483437976 | BRCA2 | c.3834T>C (p.His1278=) c.3465T>C (p.His1155=) n.3834T>C | ClinVar gnomAD v4 |
| 13 | g.32338189T>G | CA387778546 | BRCA2 | c.3834T>G (p.His1278Gln) c.3465T>G (p.His1155Gln) n.3834T>G | |
| 13 | g.32338189_32338190delinsTA | CA2082821144 | BRCA2 | c.3834_3835delinsTA (p.His1278=) c.3465_3466delinsTA (p.His1155=) n.3834_3835delinsTA | |
| 13 | g.32338190A= | CA2082821156 | BRCA2 | c.3835A= (p.Asn1279=) c.3466A= (p.Asn1156=) n.3835A= | |
| 13 | g.32338190A>C | CA387778550 | BRCA2 | c.3835A>C (p.Asn1279His) c.3466A>C (p.Asn1156His) n.3835A>C | |
| 13 | g.32338190A>G | CA018891 | BRCA2 | c.3835A>G (p.Asn1279Asp) c.3466A>G (p.Asn1156Asp) n.3835A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338190A>T | CA387778552 | BRCA2 | c.3835A>T (p.Asn1279Tyr) c.3466A>T (p.Asn1156Tyr) n.3835A>T | dbSNP |
| 13 | g.32338191dup | CA196954 | BRCA2 | c.3836dup (p.Asn1279LysfsTer2) c.3467dup (p.Asn1156LysfsTer2) n.3836dup | ClinVar dbSNP |
| 13 | g.32338191del | CA018897 | BRCA2 | c.3836del (p.Asn1279MetfsTer5) c.3467del (p.Asn1156MetfsTer5) n.3836del | ClinVar dbSNP |
| 13 | g.32338197_32338391del | CA2580618074 | BRCA2 | c.3842_4036del (p.Lys1281_Asp1345del) c.3473_3667del (p.Lys1158_Asp1222del) n.3842_4036del | |
| 13 | g.32338191A= | CA2082821192 | BRCA2 | c.3836A= (p.Asn1279=) c.3467A= (p.Asn1156=) n.3836A= | |
| 13 | g.32338191A>C | CA387778559 | BRCA2 | c.3836A>C (p.Asn1279Thr) c.3467A>C (p.Asn1156Thr) n.3836A>C | |
| 13 | g.32338191A>G | CA16613874 | BRCA2 | c.3836A>G (p.Asn1279Ser) c.3467A>G (p.Asn1156Ser) n.3836A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338191A>T | CA387778555 | BRCA2 | c.3836A>T (p.Asn1279Ile) c.3467A>T (p.Asn1156Ile) n.3836A>T | dbSNP |
| 13 | g.32338191_32338192delinsAT | CA2082821170 | BRCA2 | c.3836_3837delinsAT (p.Asn1279=) c.3467_3468delinsAT (p.Asn1156=) n.3836_3837delinsAT | |
| 13 | g.32338193_32338195del | CA2622600950 | BRCA2 | c.3838_3840del (p.Asp1280del) c.3469_3471del (p.Asp1157del) n.3838_3840del | gnomAD v4 |
| 13 | g.32338192del | CA018900 | BRCA2 | c.3837del (p.Asn1279LysfsTer5) c.3468del (p.Asn1156LysfsTer5) n.3837del | ClinVar dbSNP |
| 13 | g.32338192T>A | CA387778560 | BRCA2 | c.3837T>A (p.Asn1279Lys) c.3468T>A (p.Asn1156Lys) n.3837T>A | dbSNP gnomAD v4 |
| 13 | g.32338192T>C | CA483437980 | BRCA2 | c.3837T>C (p.Asn1279=) c.3468T>C (p.Asn1156=) n.3837T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338192T>G | CA387778561 | BRCA2 | c.3837T>G (p.Asn1279Lys) c.3468T>G (p.Asn1156Lys) n.3837T>G | ClinVar |
| 13 | g.32338192T= | CA2082821201 | BRCA2 | c.3837T= (p.Asn1279=) c.3468T= (p.Asn1156=) n.3837T= | |
| 13 | g.32338193G>A | CA387778562 | BRCA2 | c.3838G>A (p.Asp1280Asn) c.3469G>A (p.Asp1157Asn) n.3838G>A | dbSNP |
| 13 | g.32338193G>C | CA387778563 | BRCA2 | c.3838G>C (p.Asp1280His) c.3469G>C (p.Asp1157His) n.3838G>C | dbSNP |
| 13 | g.32338193G>T | CA387778564 | BRCA2 | c.3838G>T (p.Asp1280Tyr) c.3469G>T (p.Asp1157Tyr) n.3838G>T | dbSNP gnomAD v4 |
| 13 | g.32338194A= | CA2082821205 | BRCA2 | c.3839A= (p.Asp1280=) c.3470A= (p.Asp1157=) n.3839A= | |
| 13 | g.32338194A>C | CA387778565 | BRCA2 | c.3839A>C (p.Asp1280Ala) c.3470A>C (p.Asp1157Ala) n.3839A>C | |
| 13 | g.32338194A>G | CA387778566 | BRCA2 | c.3839A>G (p.Asp1280Gly) c.3470A>G (p.Asp1157Gly) n.3839A>G | ClinVar |
| 13 | g.32338194A>T | CA018906 | BRCA2 | c.3839A>T (p.Asp1280Val) c.3470A>T (p.Asp1157Val) n.3839A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338195T>A | CA387778571 | BRCA2 | c.3840T>A (p.Asp1280Glu) c.3471T>A (p.Asp1157Glu) n.3840T>A | |
| 13 | g.32338195T>C | CA018918 | BRCA2 | c.3840T>C (p.Asp1280=) c.3471T>C (p.Asp1157=) n.3840T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338195T>G | CA387778569 | BRCA2 | c.3840T>G (p.Asp1280Glu) c.3471T>G (p.Asp1157Glu) n.3840T>G | |
| 13 | g.32338195T= | CA2082821211 | BRCA2 | c.3840T= (p.Asp1280=) c.3471T= (p.Asp1157=) n.3840T= | |
| 13 | g.32338196A>C | CA387778572 | BRCA2 | c.3841A>C (p.Lys1281Gln) c.3472A>C (p.Lys1158Gln) n.3841A>C | |
| 13 | g.32338196A>G | CA387778574 | BRCA2 | c.3841A>G (p.Lys1281Glu) c.3472A>G (p.Lys1158Glu) n.3841A>G | ClinVar gnomAD v4 |
| 13 | g.32338196A>T | CA387778575 | BRCA2 | c.3841A>T (p.Lys1281Ter) c.3472A>T (p.Lys1158Ter) n.3841A>T | dbSNP |
| 13 | g.32338197A>C | CA387778577 | BRCA2 | c.3842A>C (p.Lys1281Thr) c.3473A>C (p.Lys1158Thr) n.3842A>C | ClinVar dbSNP |
| 13 | g.32338197A>G | CA387778578 | BRCA2 | c.3842A>G (p.Lys1281Arg) c.3473A>G (p.Lys1158Arg) n.3842A>G | |
| 13 | g.32338197A>T | CA387778580 | BRCA2 | c.3842A>T (p.Lys1281Ile) c.3473A>T (p.Lys1158Ile) n.3842A>T | dbSNP |
| 13 | g.32338198A>C | CA387778581 | BRCA2 | c.3843A>C (p.Lys1281Asn) c.3474A>C (p.Lys1158Asn) n.3843A>C | |
| 13 | g.32338198A>G | CA483437984 | BRCA2 | c.3843A>G (p.Lys1281=) c.3474A>G (p.Lys1158=) n.3843A>G | |
| 13 | g.32338198A>T | CA387778583 | BRCA2 | c.3843A>T (p.Lys1281Asn) c.3474A>T (p.Lys1158Asn) n.3843A>T | |
| 13 | g.32338199A>C | CA387778584 | BRCA2 | c.3844A>C (p.Thr1282Pro) c.3475A>C (p.Thr1159Pro) n.3844A>C | |
| 13 | g.32338199A>G | CA387778586 | BRCA2 | c.3844A>G (p.Thr1282Ala) c.3475A>G (p.Thr1159Ala) n.3844A>G | dbSNP |
| 13 | g.32338199A>T | CA387778589 | BRCA2 | c.3844A>T (p.Thr1282Ser) c.3475A>T (p.Thr1159Ser) n.3844A>T | dbSNP |
| 13 | g.32338199_32338201delinsACT | CA2082821221 | BRCA2 | c.3844_3846delinsACT (p.Thr1282=) c.3475_3477delinsACT (p.Thr1159=) n.3844_3846delinsACT | |
| 13 | g.32338199_32338202delinsACTG | CA2082821223 | BRCA2 | c.3844_3847delinsACTG (p.Thr1282=) c.3475_3478delinsACTG (p.Thr1159=) n.3844_3847delinsACTG | |
| 13 | g.32338200C>A | CA387778594 | BRCA2 | c.3845C>A (p.Thr1282Asn) c.3476C>A (p.Thr1159Asn) n.3845C>A | dbSNP |
| 13 | g.32338200C= | CA2082821234 | BRCA2 | c.3845C= (p.Thr1282=) c.3476C= (p.Thr1159=) n.3845C= | |
| 13 | g.32338200C>G | CA387778593 | BRCA2 | c.3845C>G (p.Thr1282Ser) c.3476C>G (p.Thr1159Ser) n.3845C>G | ClinVar dbSNP |
| 13 | g.32338200C>T | CA387778591 | BRCA2 | c.3845C>T (p.Thr1282Ile) c.3476C>T (p.Thr1159Ile) n.3845C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338200_32338201del | CA919242510 | BRCA2 | c.3845_3846del (p.Thr1282SerfsTer3) c.3476_3477del (p.Thr1159SerfsTer3) n.3845_3846del | dbSNP |
| 13 | g.32338200_32338202delinsA | CA915948457 | BRCA2 | c.3845_3847delinsA (p.Thr1282AsnfsTer3) c.3476_3478delinsA (p.Thr1159AsnfsTer3) n.3845_3847delinsA | ClinVar dbSNP |
| 13 | g.32338200_32338202delinsCTG | CA2082821233 | BRCA2 | c.3845_3847delinsCTG (p.Thr1282=) c.3476_3478delinsCTG (p.Thr1159=) n.3845_3847delinsCTG | |
| 13 | g.32338200_32338203del | CA2622600951 | BRCA2 | c.3845_3848del (p.Thr1282LysfsTer10) c.3476_3479del (p.Thr1159LysfsTer10) n.3845_3848del | gnomAD v4 |
| 13 | g.32338201T>A | CA483437988 | BRCA2 | c.3846T>A (p.Thr1282=) c.3477T>A (p.Thr1159=) n.3846T>A | dbSNP |
| 13 | g.32338201T>C | CA483437989 | BRCA2 | c.3846T>C (p.Thr1282=) c.3477T>C (p.Thr1159=) n.3846T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338201T>G | CA483437990 | BRCA2 | c.3846T>G (p.Thr1282=) c.3477T>G (p.Thr1159=) n.3846T>G | ClinVar dbSNP |
| 13 | g.32338201T= | CA2082821253 | BRCA2 | c.3846T= (p.Thr1282=) c.3477T= (p.Thr1159=) n.3846T= | |
| 13 | g.32338201_32338202delinsTG | CA2082821261 | BRCA2 | c.3846_3847delinsTG (p.Thr1282=) c.3477_3478delinsTG (p.Thr1159=) n.3846_3847delinsTG | |
| 13 | g.32338202_32338203del | CA018922 | BRCA2 | c.3847_3848del (p.Val1283LysfsTer2) c.3478_3479del (p.Val1160LysfsTer2) n.3847_3848del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32338201_32338205delinsTGTAA | CA2082821255 | BRCA2 | c.3846_3850delinsTGTAA (p.Thr1282=) c.3477_3481delinsTGTAA (p.Thr1159=) n.3846_3850delinsTGTAA | |
| 13 | g.32338202del | CA018939 | BRCA2 | c.3847del (p.Val1283Ter) c.3478del (p.Val1160Ter) n.3847del | ClinVar dbSNP |
| 13 | g.32338202G>A | CA6940728 | BRCA2 | c.3847G>A (p.Val1283Ile) c.3478G>A (p.Val1160Ile) n.3847G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338202G>C | CA387778599 | BRCA2 | c.3847G>C (p.Val1283Leu) c.3478G>C (p.Val1160Leu) n.3847G>C | ClinVar dbSNP |
| 13 | g.32338202G= | CA2082821282 | BRCA2 | c.3847G= (p.Val1283=) c.3478G= (p.Val1160=) n.3847G= | |
| 13 | g.32338202G>T | CA387778601 | BRCA2 | c.3847G>T (p.Val1283Leu) c.3478G>T (p.Val1160Leu) n.3847G>T | gnomAD v4 |
| 13 | g.32338204_32338207del | CA018955 | BRCA2 | c.3849_3852del (p.Ser1284LysfsTer8) c.3480_3483del (p.Ser1161LysfsTer8) n.3849_3852del | ClinVar dbSNP |
| 13 | g.32338203T>A | CA387778602 | BRCA2 | c.3848T>A (p.Val1283Glu) c.3479T>A (p.Val1160Glu) n.3848T>A | |
| 13 | g.32338203T>C | CA10577468 | BRCA2 | c.3848T>C (p.Val1283Ala) c.3479T>C (p.Val1160Ala) n.3848T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338203T>G | CA018950 | BRCA2 | c.3848T>G (p.Val1283Gly) c.3479T>G (p.Val1160Gly) n.3848T>G | ClinVar dbSNP |
| 13 | g.32338203T= | CA2082821299 | BRCA2 | c.3848T= (p.Val1283=) c.3479T= (p.Val1160=) n.3848T= | |
| 13 | g.32338203dup | CA018945 | BRCA2 | c.3848dup (p.Ser1284LysfsTer2) c.3479dup (p.Ser1161LysfsTer2) n.3848dup | ClinVar dbSNP |
| 13 | g.32338204A= | CA2082821308 | BRCA2 | c.3849A= (p.Val1283=) c.3480A= (p.Val1160=) n.3849A= | |
| 13 | g.32338204A>C | CA483437991 | BRCA2 | c.3849A>C (p.Val1283=) c.3480A>C (p.Val1160=) n.3849A>C | ClinVar dbSNP |
| 13 | g.32338204A>G | CA483437992 | BRCA2 | c.3849A>G (p.Val1283=) c.3480A>G (p.Val1160=) n.3849A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338204A>T | CA483437993 | BRCA2 | c.3849A>T (p.Val1283=) c.3480A>T (p.Val1160=) n.3849A>T | ClinVar dbSNP |
| 13 | g.32338204_32338205insT | CA10586517 | BRCA2 | c.3849_3850insT (p.Ser1284Ter) c.3480_3481insT (p.Ser1161Ter) n.3849_3850insT | ClinVar dbSNP |
| 13 | g.32338205A>C | CA387778605 | BRCA2 | c.3850A>C (p.Ser1284Arg) c.3481A>C (p.Ser1161Arg) n.3850A>C | |
| 13 | g.32338205A>G | CA387778607 | BRCA2 | c.3850A>G (p.Ser1284Gly) c.3481A>G (p.Ser1161Gly) n.3850A>G | ClinVar dbSNP |
| 13 | g.32338205A>T | CA387778609 | BRCA2 | c.3850A>T (p.Ser1284Cys) c.3481A>T (p.Ser1161Cys) n.3850A>T | dbSNP |
| 13 | g.32338206G>A | CA387778615 | BRCA2 | c.3851G>A (p.Ser1284Asn) c.3482G>A (p.Ser1161Asn) n.3851G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338206G>C | CA387778613 | BRCA2 | c.3851G>C (p.Ser1284Thr) c.3482G>C (p.Ser1161Thr) n.3851G>C | |
| 13 | g.32338206G>T | CA387778611 | BRCA2 | c.3851G>T (p.Ser1284Ile) c.3482G>T (p.Ser1161Ile) n.3851G>T | |
| 13 | g.32338207T>A | CA10579592 | BRCA2 | c.3852T>A (p.Ser1284Arg) c.3483T>A (p.Ser1161Arg) n.3852T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338207T>C | CA483437999 | BRCA2 | c.3852T>C (p.Ser1284=) c.3483T>C (p.Ser1161=) n.3852T>C | ClinVar |
| 13 | g.32338207T>G | CA6940729 | BRCA2 | c.3852T>G (p.Ser1284Arg) c.3483T>G (p.Ser1161Arg) n.3852T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338207T= | CA2082821325 | BRCA2 | c.3852T= (p.Ser1284=) c.3483T= (p.Ser1161=) n.3852T= | |
| 13 | g.32338208del | CA2580614661 | BRCA2 | c.3853del (p.Glu1285LysfsTer8) c.3484del (p.Glu1162LysfsTer8) n.3853del | ClinVar |
| 13 | g.32338208G>A | CA387778617 | BRCA2 | c.3853G>A (p.Glu1285Lys) c.3484G>A (p.Glu1162Lys) n.3853G>A | |
| 13 | g.32338208G>C | CA387778619 | BRCA2 | c.3853G>C (p.Glu1285Gln) c.3484G>C (p.Glu1162Gln) n.3853G>C | |
| 13 | g.32338208G>T | CA387778621 | BRCA2 | c.3853G>T (p.Glu1285Ter) c.3484G>T (p.Glu1162Ter) n.3853G>T | ClinVar gnomAD v4 |
| 13 | g.32338208dup | CA913188538 | BRCA2 | c.3853dup (p.Glu1285GlyfsTer4) c.3484dup (p.Glu1162GlyfsTer4) n.3853dup | ClinVar dbSNP |
| 13 | g.32338208_32338212delinsGAAAA | CA2082821339 | BRCA2 | c.3853_3857delinsGAAAA (p.Glu1285=) c.3484_3488delinsGAAAA (p.Glu1162=) n.3853_3857delinsGAAAA | |
| 13 | g.32338209A= | CA2082821372 | BRCA2 | c.3854A= (p.Glu1285=) c.3485A= (p.Glu1162=) n.3854A= | |
| 13 | g.32338209A>C | CA387778635 | BRCA2 | c.3854A>C (p.Glu1285Ala) c.3485A>C (p.Glu1162Ala) n.3854A>C | |
| 13 | g.32338209A>G | CA6940730 | BRCA2 | c.3854A>G (p.Glu1285Gly) c.3485A>G (p.Glu1162Gly) n.3854A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338209A>T | CA387778632 | BRCA2 | c.3854A>T (p.Glu1285Val) c.3485A>T (p.Glu1162Val) n.3854A>T | dbSNP |
| 13 | g.32338215dup | CA018986 | BRCA2 | c.3860dup (p.Asn1287LysfsTer2) c.3491dup (p.Asn1164LysfsTer2) n.3860dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338213_32338215dup | CA2082821374 | BRCA2 | c.3858_3860dup (p.Lys1286_Asn1287insLys) c.3489_3491dup (p.Lys1163_Asn1164insLys) n.3858_3860dup | ClinVar dbSNP |
| 13 | g.32338215del | CA018995 | BRCA2 | c.3860del (p.Asn1287IlefsTer6) c.3491del (p.Asn1164IlefsTer6) n.3860del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.32338214_32338215del | CA018979 | BRCA2 | c.3859_3860del (p.Asn1287Ter) c.3490_3491del (p.Asn1164Ter) n.3859_3860del | ClinVar dbSNP |
| 13 | g.32338213_32338215del | CA018972 | BRCA2 | c.3858_3860del (p.Lys1286del) c.3489_3491del (p.Lys1163del) n.3858_3860del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338212_32338215del | CA018962 | BRCA2 | c.3857_3860del (p.Lys1286IlefsTer6) c.3488_3491del (p.Lys1163IlefsTer6) n.3857_3860del | ClinVar dbSNP |
| 13 | g.32338210A>C | CA387778637 | BRCA2 | c.3855A>C (p.Glu1285Asp) c.3486A>C (p.Glu1162Asp) n.3855A>C | |
| 13 | g.32338210A>G | CA483438004 | BRCA2 | c.3855A>G (p.Glu1285=) c.3486A>G (p.Glu1162=) n.3855A>G | |
| 13 | g.32338210A>T | CA387778638 | BRCA2 | c.3855A>T (p.Glu1285Asp) c.3486A>T (p.Glu1162Asp) n.3855A>T | |
| 13 | g.32338211A= | CA2082821393 | BRCA2 | c.3856A= (p.Lys1286=) c.3487A= (p.Lys1163=) n.3856A= | |
| 13 | g.32338211A>C | CA387778641 | BRCA2 | c.3856A>C (p.Lys1286Gln) c.3487A>C (p.Lys1163Gln) n.3856A>C | |
| 13 | g.32338211A>G | CA018967 | BRCA2 | c.3856A>G (p.Lys1286Glu) c.3487A>G (p.Lys1163Glu) n.3856A>G | ClinVar dbSNP |
| 13 | g.32338211A>T | CA387778639 | BRCA2 | c.3856A>T (p.Lys1286Ter) c.3487A>T (p.Lys1163Ter) n.3856A>T | |
| 13 | g.32338212A>C | CA387778645 | BRCA2 | c.3857A>C (p.Lys1286Thr) c.3488A>C (p.Lys1163Thr) n.3857A>C | COSMIC COSMIC |
| 13 | g.32338212A>G | CA387778644 | BRCA2 | c.3857A>G (p.Lys1286Arg) c.3488A>G (p.Lys1163Arg) n.3857A>G | dbSNP |
| 13 | g.32338212A>T | CA387778642 | BRCA2 | c.3857A>T (p.Lys1286Ile) c.3488A>T (p.Lys1163Ile) n.3857A>T | |
| 13 | g.32338212_32338216delinsAAAAT | CA2082821402 | BRCA2 | c.3857_3861delinsAAAAT (p.Lys1286=) c.3488_3492delinsAAAAT (p.Lys1163=) n.3857_3861delinsAAAAT | |
| 13 | g.32338213A= | CA2082821411 | BRCA2 | c.3858A= (p.Lys1286=) c.3489A= (p.Lys1163=) n.3858A= | |
| 13 | g.32338213A>C | CA387778647 | BRCA2 | c.3858A>C (p.Lys1286Asn) c.3489A>C (p.Lys1163Asn) n.3858A>C | ClinVar |
| 13 | g.32338213A>G | CA483438011 | BRCA2 | c.3858A>G (p.Lys1286=) c.3489A>G (p.Lys1163=) n.3858A>G | |
| 13 | g.32338213A>T | CA387778648 | BRCA2 | c.3858A>T (p.Lys1286Asn) c.3489A>T (p.Lys1163Asn) n.3858A>T | ClinVar dbSNP |
| 13 | g.32338213_32338216delinsAAAT | CA2082821412 | BRCA2 | c.3858_3861delinsAAAT (p.Lys1286=) c.3489_3492delinsAAAT (p.Lys1163=) n.3858_3861delinsAAAT | |
| 13 | g.32338215_32338218del | CA018990 | BRCA2 | c.3860_3863del (p.Asn1287IlefsTer5) c.3491_3494del (p.Asn1164IlefsTer5) n.3860_3863del | ClinVar dbSNP |
| 13 | g.32338214A= | CA2082821438 | BRCA2 | c.3859A= (p.Asn1287=) c.3490A= (p.Asn1164=) n.3859A= | |
| 13 | g.32338214A>C | CA387778651 | BRCA2 | c.3859A>C (p.Asn1287His) c.3490A>C (p.Asn1164His) n.3859A>C | ClinVar dbSNP |
| 13 | g.32338214A>G | CA387778653 | BRCA2 | c.3859A>G (p.Asn1287Asp) c.3490A>G (p.Asn1164Asp) n.3859A>G | |
| 13 | g.32338214A>T | CA387778655 | BRCA2 | c.3859A>T (p.Asn1287Tyr) c.3490A>T (p.Asn1164Tyr) n.3859A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338214_32338219delinsAATAAT | CA2082821428 | BRCA2 | c.3859_3864delinsAATAAT (p.Asn1287=) c.3490_3495delinsAATAAT (p.Asn1164=) n.3859_3864delinsAATAAT | |
| 13 | g.32338219_32338221del | CA019013 | BRCA2 | c.3864_3866del (p.Asn1288del) c.3495_3497del (p.Asn1165del) n.3864_3866del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338215A>C | CA387778661 | BRCA2 | c.3860A>C (p.Asn1287Thr) c.3491A>C (p.Asn1164Thr) n.3860A>C | |
| 13 | g.32338215A>G | CA387778660 | BRCA2 | c.3860A>G (p.Asn1287Ser) c.3491A>G (p.Asn1164Ser) n.3860A>G | ClinVar |
| 13 | g.32338215A>T | CA387778657 | BRCA2 | c.3860A>T (p.Asn1287Ile) c.3491A>T (p.Asn1164Ile) n.3860A>T | ClinVar dbSNP |
| 13 | g.32338215_32338216delinsAT | CA2082821453 | BRCA2 | c.3860_3861delinsAT (p.Asn1287=) c.3491_3492delinsAT (p.Asn1164=) n.3860_3861delinsAT | |
| 13 | g.32338215_32338219delinsATAAT | CA2082821452 | BRCA2 | c.3860_3864delinsATAAT (p.Asn1287=) c.3491_3495delinsATAAT (p.Asn1164=) n.3860_3864delinsATAAT | |
| 13 | g.32338216_32338220del | CA658798131 | BRCA2 | c.3861_3865del (p.Asn1287LysfsTer9) c.3492_3496del (p.Asn1164LysfsTer9) n.3861_3865del | ClinVar dbSNP |
| 13 | g.32338216del | CA919242517 | BRCA2 | c.3861del (p.Asn1287LysfsTer6) c.3492del (p.Asn1164LysfsTer6) n.3861del | dbSNP |
| 13 | g.32338216T>A | CA387778663 | BRCA2 | c.3861T>A (p.Asn1287Lys) c.3492T>A (p.Asn1164Lys) n.3861T>A | ClinVar dbSNP |
| 13 | g.32338216T>C | CA483438015 | BRCA2 | c.3861T>C (p.Asn1287=) c.3492T>C (p.Asn1164=) n.3861T>C | |
| 13 | g.32338216T>G | CA387778665 | BRCA2 | c.3861T>G (p.Asn1287Lys) c.3492T>G (p.Asn1164Lys) n.3861T>G | dbSNP |
| 13 | g.32338216T= | CA2082821464 | BRCA2 | c.3861T= (p.Asn1287=) c.3492T= (p.Asn1164=) n.3861T= | |
| 13 | g.32338216_32338219del | CA10589227 | BRCA2 | c.3861_3864del (p.Asn1287LysfsTer5) c.3492_3495del (p.Asn1164LysfsTer5) n.3861_3864del | ClinVar dbSNP |
| 13 | g.32338216_32338220delinsTAATA | CA2082821472 | BRCA2 | c.3861_3865delinsTAATA (p.Asn1287=) c.3492_3496delinsTAATA (p.Asn1164=) n.3861_3865delinsTAATA | |
| 13 | g.32338216_32338217insTA | CA916080546 | BRCA2 | c.3861_3862insTA (p.Asn1288Ter) c.3492_3493insTA (p.Asn1165Ter) n.3861_3862insTA | ClinVar dbSNP |
| 13 | g.32338217A>C | CA387778667 | BRCA2 | c.3862A>C (p.Asn1288His) c.3493A>C (p.Asn1165His) n.3862A>C | |
| 13 | g.32338217A>G | CA387778670 | BRCA2 | c.3862A>G (p.Asn1288Asp) c.3493A>G (p.Asn1165Asp) n.3862A>G | |
| 13 | g.32338217A>T | CA387778669 | BRCA2 | c.3862A>T (p.Asn1288Tyr) c.3493A>T (p.Asn1165Tyr) n.3862A>T | gnomAD v4 |
| 13 | g.32338217_32338218insCA | CA2622600955 | BRCA2 | c.3862_3863insCA (p.Asn1288ThrfsTer6) c.3493_3494insCA (p.Asn1165ThrfsTer6) n.3862_3863insCA | gnomAD v4 |
| 13 | g.32338218dup | CA019002 | BRCA2 | c.3863dup (p.Asn1288LysfsTer2) c.3494dup (p.Asn1165LysfsTer2) n.3863dup | ClinVar dbSNP |
| 13 | g.32338217_32338219delinsAAT | CA2082821491 | BRCA2 | c.3862_3864delinsAAT (p.Asn1288=) c.3493_3495delinsAAT (p.Asn1165=) n.3862_3864delinsAAT | |
| 13 | g.32338220_32338223del | CA019016 | BRCA2 | c.3865_3868del (p.Lys1289AlafsTer3) c.3496_3499del (p.Lys1166AlafsTer3) n.3865_3868del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338218A= | CA2082821508 | BRCA2 | c.3863A= (p.Asn1288=) c.3494A= (p.Asn1165=) n.3863A= | |
| 13 | g.32338218A>C | CA387778672 | BRCA2 | c.3863A>C (p.Asn1288Thr) c.3494A>C (p.Asn1165Thr) n.3863A>C | |
| 13 | g.32338218A>G | CA6940731 | BRCA2 | c.3863A>G (p.Asn1288Ser) c.3494A>G (p.Asn1165Ser) n.3863A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338218A>T | CA019007 | BRCA2 | c.3863A>T (p.Asn1288Ile) c.3494A>T (p.Asn1165Ile) n.3863A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338218_32338219insCCAAACACACCCAACACA | CA2798719297 | BRCA2 | c.3863_3864insCCAAACACACCCAACACA (p.Asn1288_Lys1289insGlnThrHisProThrHis) c.3494_3495insCCAAACACACCCAACACA (p.Asn1165_Lys1166insGlnThrHisProThrHis) n.3863_3864insCCAAACACACCCAACACA | |
| 13 | g.32338218_32338219insACCAAACACACCCAACACA | CA2798719299 | BRCA2 | c.3863_3864insACCAAACACACCCAACACA (p.Asn1288LysfsTer8) c.3494_3495insACCAAACACACCCAACACA (p.Asn1165LysfsTer8) n.3863_3864insACCAAACACACCCAACACA | |
| 13 | g.32338219_32338220del | CA10586518 | BRCA2 | c.3864_3865del (p.Asn1288LysfsTer9) c.3495_3496del (p.Asn1165LysfsTer9) n.3864_3865del | ClinVar dbSNP |
| 13 | g.32338219T>A | CA387778673 | BRCA2 | c.3864T>A (p.Asn1288Lys) c.3495T>A (p.Asn1165Lys) n.3864T>A | |
| 13 | g.32338219T>C | CA483438020 | BRCA2 | c.3864T>C (p.Asn1288=) c.3495T>C (p.Asn1165=) n.3864T>C | ClinVar |
| 13 | g.32338219T>G | CA387778675 | BRCA2 | c.3864T>G (p.Asn1288Lys) c.3495T>G (p.Asn1165Lys) n.3864T>G | |
| 13 | g.32338219_32338221delinsTAA | CA2082821514 | BRCA2 | c.3864_3866delinsTAA (p.Asn1288=) c.3495_3497delinsTAA (p.Asn1165=) n.3864_3866delinsTAA | |
| 13 | g.32338220A= | CA2082821548 | BRCA2 | c.3865A= (p.Lys1289=) c.3496A= (p.Lys1166=) n.3865A= | |
| 13 | g.32338220A>C | CA387778677 | BRCA2 | c.3865A>C (p.Lys1289Gln) c.3496A>C (p.Lys1166Gln) n.3865A>C | |
| 13 | g.32338220A>G | CA019026 | BRCA2 | c.3865A>G (p.Lys1289Glu) c.3496A>G (p.Lys1166Glu) n.3865A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338220A>T | CA387778679 | BRCA2 | c.3865A>T (p.Lys1289Ter) c.3496A>T (p.Lys1166Ter) n.3865A>T | dbSNP |
| 13 | g.32338222dup | CA10589229 | BRCA2 | c.3867dup (p.Cys1290MetfsTer8) c.3498dup (p.Cys1167MetfsTer8) n.3867dup | ClinVar dbSNP |
| 13 | g.32338221_32338222del | CA019031 | BRCA2 | c.3866_3867del (p.Lys1289MetfsTer8) c.3497_3498del (p.Lys1166MetfsTer8) n.3866_3867del | ClinVar dbSNP |
| 13 | g.32338220_32338224delinsAAATG | CA2082821542 | BRCA2 | c.3865_3869delinsAAATG (p.Lys1289=) c.3496_3500delinsAAATG (p.Lys1166=) n.3865_3869delinsAAATG | |
| 13 | g.32338221A>C | CA387778691 | BRCA2 | c.3866A>C (p.Lys1289Thr) c.3497A>C (p.Lys1166Thr) n.3866A>C | |
| 13 | g.32338221A>G | CA387778683 | BRCA2 | c.3866A>G (p.Lys1289Arg) c.3497A>G (p.Lys1166Arg) n.3866A>G | dbSNP |
| 13 | g.32338221A>T | CA387778689 | BRCA2 | c.3866A>T (p.Lys1289Ile) c.3497A>T (p.Lys1166Ile) n.3866A>T | dbSNP |
| 13 | g.32338221_32338223dup | CA658653658 | BRCA2 | c.3866_3868dup (p.Cys1290Ter) c.3497_3499dup (p.Cys1167Ter) n.3866_3868dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338221_32338224del | CA10589228 | BRCA2 | c.3866_3869del (p.Lys1289ThrfsTer3) c.3497_3500del (p.Lys1166ThrfsTer3) n.3866_3869del | ClinVar dbSNP |
| 13 | g.32338222A>C | CA387778692 | BRCA2 | c.3867A>C (p.Lys1289Asn) c.3498A>C (p.Lys1166Asn) n.3867A>C | gnomAD v4 |
| 13 | g.32338222A>G | CA483438023 | BRCA2 | c.3867A>G (p.Lys1289=) c.3498A>G (p.Lys1166=) n.3867A>G | ClinVar dbSNP |
| 13 | g.32338222A>T | CA387778694 | BRCA2 | c.3867A>T (p.Lys1289Asn) c.3498A>T (p.Lys1166Asn) n.3867A>T | dbSNP |
| 13 | g.32338223T>A | CA387778695 | BRCA2 | c.3868T>A (p.Cys1290Ser) c.3499T>A (p.Cys1167Ser) n.3868T>A | ClinVar dbSNP |
| 13 | g.32338223T>C | CA387778697 | BRCA2 | c.3868T>C (p.Cys1290Arg) c.3499T>C (p.Cys1167Arg) n.3868T>C | gnomAD v4 |
| 13 | g.32338223T>G | CA387778698 | BRCA2 | c.3868T>G (p.Cys1290Gly) c.3499T>G (p.Cys1167Gly) n.3868T>G | dbSNP |
| 13 | g.32338224G>A | CA019036 | BRCA2 | c.3869G>A (p.Cys1290Tyr) c.3500G>A (p.Cys1167Tyr) n.3869G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338224G>C | CA387778701 | BRCA2 | c.3869G>C (p.Cys1290Ser) c.3500G>C (p.Cys1167Ser) n.3869G>C | dbSNP |
| 13 | g.32338224G= | CA2082821572 | BRCA2 | c.3869G= (p.Cys1290=) c.3500G= (p.Cys1167=) n.3869G= | |
| 13 | g.32338224G>T | CA387778702 | BRCA2 | c.3869G>T (p.Cys1290Phe) c.3500G>T (p.Cys1167Phe) n.3869G>T | ClinVar dbSNP |
| 13 | g.32338225C>A | CA387778704 | BRCA2 | c.3870C>A (p.Cys1290Ter) c.3501C>A (p.Cys1167Ter) n.3870C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338225C= | CA2082821577 | BRCA2 | c.3870C= (p.Cys1290=) c.3501C= (p.Cys1167=) n.3870C= | |
| 13 | g.32338225C>G | CA387778705 | BRCA2 | c.3870C>G (p.Cys1290Trp) c.3501C>G (p.Cys1167Trp) n.3870C>G | dbSNP |
| 13 | g.32338225C>T | CA483438027 | BRCA2 | c.3870C>T (p.Cys1290=) c.3501C>T (p.Cys1167=) n.3870C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338226C>A | CA387778707 | BRCA2 | c.3871C>A (p.Gln1291Lys) c.3502C>A (p.Gln1168Lys) n.3871C>A | dbSNP gnomAD v4 |
| 13 | g.32338226C= | CA2082821596 | BRCA2 | c.3871C= (p.Gln1291=) c.3502C= (p.Gln1168=) n.3871C= | |
| 13 | g.32338226C>G | CA387778708 | BRCA2 | c.3871C>G (p.Gln1291Glu) c.3502C>G (p.Gln1168Glu) n.3871C>G | dbSNP |
| 13 | g.32338226C>T | CA019043 | BRCA2 | c.3871C>T (p.Gln1291Ter) c.3502C>T (p.Gln1168Ter) n.3871C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338226_32338227delinsCA | CA2082821584 | BRCA2 | c.3871_3872delinsCA (p.Gln1291=) c.3502_3503delinsCA (p.Gln1168=) n.3871_3872delinsCA | |
| 13 | g.32338227A>C | CA387778712 | BRCA2 | c.3872A>C (p.Gln1291Pro) c.3503A>C (p.Gln1168Pro) n.3872A>C | |
| 13 | g.32338227A>G | CA387778713 | BRCA2 | c.3872A>G (p.Gln1291Arg) c.3503A>G (p.Gln1168Arg) n.3872A>G | dbSNP |
| 13 | g.32338227A>T | CA387778715 | BRCA2 | c.3872A>T (p.Gln1291Leu) c.3503A>T (p.Gln1168Leu) n.3872A>T | |
| 13 | g.32338228del | CA019049 | BRCA2 | c.3873del (p.Gln1291HisfsTer2) c.3504del (p.Gln1168HisfsTer2) n.3873del | ClinVar dbSNP gnomAD v4 |