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.32338128_32338130delinsTAA | CA2082820608 | BRCA2 | c.3773_3775delinsTAA (p.Ile1258=) c.3404_3406delinsTAA (p.Ile1135=) n.3773_3775delinsTAA | |
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 |